diff --git a/.gitignore b/.gitignore new file mode 100644 index 0000000..ffcddff --- /dev/null +++ b/.gitignore @@ -0,0 +1,11 @@ +node_modules +build +npm-debug.log +.env +.DS_Store +package-lock.json + +# Elastic Beanstalk Files +.elasticbeanstalk/* +!.elasticbeanstalk/*.cfg.yml +!.elasticbeanstalk/*.global.yml diff --git a/Algorithms/Bayes_Distance_combo/combination.js b/Algorithms/Bayes_Distance_combo/combination.js new file mode 100644 index 0000000..a31b50e --- /dev/null +++ b/Algorithms/Bayes_Distance_combo/combination.js @@ -0,0 +1,67 @@ +var db = require('../../controllers/DatabaseConnection') +var Disease = db.Disease; +var Symptom = db.Symptom; +const {Op} = require('sequelize'); +var distance_function = require('euclidean-distance') + +function arraysEqual(a, b) { + if (a === b) return true; + if (a == null || b == null) return false; + if (a.length !== b.length) return false; + for (var i = 0; i < a.length; ++i) { + if (a[i] !== b[i]) return false; + } + return true; +} + +async function combination(input_symptoms) { + var results = [] + let number_of_input_symptoms = parseFloat(input_symptoms.length) + let unchanged_vector = Array((input_symptoms.length)).fill(0); + var parent_symptoms = await db.getParentSymptoms(input_symptoms); + // again we push superclasses to the input + var parent_symptoms_names = parent_symptoms.map(sym => sym.symptom_name); + + for (superclass of parent_symptoms_names) {input_symptoms.push(superclass)}; + + var diseases = await Disease.findAll({include: Symptom}) + + // initialize the symptom vector (currently all symptom point values are 1.5 but this would change with input symptom frequency) + var symptom_vector = Array((input_symptoms.length)).fill(1.5); + + for (var disease of diseases){ + var disease_vector = Array((input_symptoms.length)).fill(0); + // initialize variables + let matches = 0; + let frequency_sum = 0; + let frequency = 0; + + for (var symptom of disease.Symptoms) { + frequency_sum += parseFloat(symptom.Correlation.frequency); + // If one of the input symptoms matches this symptom + if (input_symptoms.includes(symptom.symptom_name)) { + matches += 1; + frequency += parseFloat(symptom.Correlation.frequency); + let index = input_symptoms.indexOf(symptom.name); + if (symptom.frequency == 0.895) {disease_vector.splice(index,1,3);} + if (symptom.frequency == 0.545) {disease_vector.splice(index,1,2);} + if (symptom.frequency == 0.17) {disease_vector.splice(index,1,1);} + } + } + + if (!arraysEqual(disease_vector,unchanged_vector)) { + var distance = (distance_function(disease_vector, symptom_vector)); + var likelihood = (frequency / frequency_sum) * (matches/number_of_input_symptoms); + var score = distance * (1-likelihood); + results.push({ + disease: disease, + score: score + }); + } + } + return results; +} + +module.exports = { + combination +} diff --git a/Algorithms/Bayes_Distance_combo/combination_test.js b/Algorithms/Bayes_Distance_combo/combination_test.js new file mode 100644 index 0000000..16dcff8 --- /dev/null +++ b/Algorithms/Bayes_Distance_combo/combination_test.js @@ -0,0 +1,12 @@ +var combination = require('./combination'); + +let input_symptoms = ['Hypertension', 'Portal hypertension', 'Umbilical hernia', 'Ascites', 'Splenomegaly', 'Iron deficiency anemia', 'Polycythemia', 'Anemia', 'Acidosis', 'Pulmonary embolism', 'Hematemesis', 'Colitis', 'Intestinal bleeding', 'Duodenal ulcer', 'Venous thrombosis', 'Portal vein thrombosis', 'Hernia']; +combination.combination(input_symptoms).then(ranking => { + var ordered_ranking = ranking.sort(function(a,b){return a.score - b.score}) + var results = [] + for (var i=0; i < 10; i++){ + results.push({name: ordered_ranking[i].disease.disease_name,score: ordered_ranking[i].score}) + } + console.log('Combination Test Results') + console.log(results) +}) diff --git a/Algorithms/BayesianAlgorithm/bayesian.js b/Algorithms/BayesianAlgorithm/bayesian.js new file mode 100644 index 0000000..5ef499f --- /dev/null +++ b/Algorithms/BayesianAlgorithm/bayesian.js @@ -0,0 +1,75 @@ +// var queries = require(__dirname+'/queries'); +// var q = require('q'); +// var database = require(__dirname+'/db_connection') +// var getdata_controller = require(__dirname+'/getData'); + +var db = require('../../controllers/DatabaseConnection') +var Disease = db.Disease; +var Symptom = db.Symptom; + +// Input symptoms by name: ['Pain','Fever'] +// Returns: array of score/disease tuple: [{disease: Disease, score: float}] +//TODO: Not case sensitive +async function likelihoodCalculator(input_symptoms) { + //The results array we return later + var results = [] + + var parent_symptoms = await db.getParentSymptoms(input_symptoms); + // number of input symptoms does not includes superclasses + let number_of_input_symptoms = parseFloat(input_symptoms.length) + + var parent_symptoms = await db.getParentSymptoms(input_symptoms); + var parent_symptoms_names = parent_symptoms.map(sym => sym.symptom_name); + + for (superclass of parent_symptoms_names) {input_symptoms.push(superclass)}; + + //We put this in a variable for later use. + + //Pull every disease into memory. TODO: Make request a bit finer. + var diseases = await Disease.findAll({include: Symptom}) + + //We iterate through each disease and calculate their score. + for (var disease of diseases){ + // Initial some computational variables + var frequency = 0.0; + var matches = 0.0; + var importance = 1.0; //We don't actually use this at the moment. + var frequency_sum = 0.0; + + //Example Symptom object (for easy reference) + // { + // id: 'HP:0000003', + // symptom_name: 'Multicystic kidney dysplasia', + // definition: 'Multicystic dysplasi...', + // Correlation: { disease_orpha: '564', symptom_id: 'HP:0000003', frequency: 0.895 } + // } + for (var symptom of disease.Symptoms) { + frequency_sum += parseFloat(symptom.Correlation.frequency); + + // If one of the input symptoms matches this symptom + if (input_symptoms.includes(symptom.symptom_name)) { + matches += 1; + frequency += parseFloat(symptom.Correlation.frequency); + } + + //There is no match, so pull parent symptoms and see if they might match. + + } + + //else if: deal with subclasses + + // If there was at least oen symptom match + if (matches != 0) { + let likelihood = (frequency / frequency_sum) * (matches/number_of_input_symptoms); + results.push({ + disease: disease, + score: likelihood + }) + } + } + return results; +} + +module.exports = { + likelihoodCalculator +} diff --git a/Algorithms/BayesianAlgorithm/bayesiantest.js b/Algorithms/BayesianAlgorithm/bayesiantest.js new file mode 100644 index 0000000..ede46d0 --- /dev/null +++ b/Algorithms/BayesianAlgorithm/bayesiantest.js @@ -0,0 +1,16 @@ +// problem is we always get diseases with very few symtpms +// want to emphasize similar symptoms over few symptoms + +var bayesian = require('./bayesian'); + +let input_symptoms = ['Arthritis','Fever','Anorexia','Immunodeficiency','Arthralgia','Erythema','Neutrophilia','Hepatitis','Pharyngitis'] + +bayesian.likelihoodCalculator(input_symptoms).then(ranking => { + var ordered_ranking = ranking.sort(function(a,b){return b.score - a.score}) + var results = [] + for (var i=0; i < 10; i++){ + results.push({name: ordered_ranking[i].disease.disease_name,score: ordered_ranking[i].score}) + } + console.log('Bayesian Test Results') + console.log(results) +}) diff --git a/Algorithms/DistanceAlgorithm/distance.js b/Algorithms/DistanceAlgorithm/distance.js new file mode 100644 index 0000000..e238341 --- /dev/null +++ b/Algorithms/DistanceAlgorithm/distance.js @@ -0,0 +1,60 @@ +var db = require('../../controllers/DatabaseConnection') +var Disease = db.Disease; +var Symptom = db.Symptom; +//const {Op} = require('sequelize'); + +var distance_function = require('euclidean-distance') + +function arraysEqual(a, b) { + if (a === b) return true; + if (a == null || b == null) return false; + if (a.length !== b.length) return false; + for (var i = 0; i < a.length; ++i) { + if (a[i] !== b[i]) return false; + } + return true; +} + +async function distanceCalculator(input_symptoms) { + //The results array we return later + var results = [] + var parent_symptoms = await db.getParentSymptoms(input_symptoms); + var parent_symptoms_names = parent_symptoms.map(sym => sym.symptom_name) + // here we just add the parent symptoms to the input symptoms so we treat + // all superclasses as symptoms + for (superclass of parent_symptoms_names) {input_symptoms.push(superclass)}; + + var diseases = await Disease.findAll({include: Symptom}) + + // initialize the symptom vector (currently all symptom point values are 1.5 but this would change with input symptom frequency) + var symptom_vector = Array((input_symptoms.length)).fill(1.5); + let unchanged_vector = Array((input_symptoms.length)).fill(0); + + for (var disease of diseases){ + var disease_vector = Array((input_symptoms.length)).fill(0); + // disease symptoms + for (var symptom of disease.Symptoms) { + if (input_symptoms.includes(symptom.symptom_name)) { + index = input_symptoms.indexOf(symptom.symptom_name); + if (symptom.Correlation.frequency == 0.895) {disease_vector.splice(index,1,3);} + if (symptom.Correlation.frequency == 0.545) {disease_vector.splice(index,1,2);} + if (symptom.Correlation.frequency == 0.17) {disease_vector.splice(index,1,1); } + } + } + // example: + // s = 1.5 1.5 1.5 1.5 1.5 + // d = 1 0 3 2 0 + if (!arraysEqual(disease_vector,unchanged_vector)) { + var distance = (distance_function(disease_vector, symptom_vector)); + results.push({ + disease: disease, + score: distance + }) + } + } + return results; +} + +module.exports = { + distanceCalculator +} diff --git a/Algorithms/DistanceAlgorithm/distance_test.js b/Algorithms/DistanceAlgorithm/distance_test.js new file mode 100644 index 0000000..ea0c872 --- /dev/null +++ b/Algorithms/DistanceAlgorithm/distance_test.js @@ -0,0 +1,12 @@ +var distance = require('./distance'); + +let input_symptoms = ['Hypertension', 'Portal hypertension', 'Umbilical hernia', 'Ascites', 'Splenomegaly', 'Iron deficiency anemia', 'Polycythemia', 'Anemia', 'Acidosis', 'Pulmonary embolism', 'Hematemesis', 'Colitis', 'Intestinal bleeding', 'Duodenal ulcer', 'Venous thrombosis', 'Portal vein thrombosis', 'Hernia']; +distance.distanceCalculator(input_symptoms).then(ranking => { + var ordered_ranking = ranking.sort(function(a,b){return a.score - b.score}) + var results = [] + for (var i=0; i < 10; i++){ + results.push({name: ordered_ranking[i].disease.disease_name,score: ordered_ranking[i].score}) + } + console.log('Distance Test Results') + console.log(results) +}) diff --git a/Algorithms/test.js b/Algorithms/test.js new file mode 100644 index 0000000..e044864 --- /dev/null +++ b/Algorithms/test.js @@ -0,0 +1,39 @@ +var bayesian = require('./BayesianAlgorithm/bayesian'); +var distance = require('./DistanceAlgorithm/distance'); +var combination = require('./Bayes_Distance_combo/combination'); + + +let input_symptoms = ['Hypertension', 'Portal hypertension', 'Umbilical hernia', 'Ascites', 'Splenomegaly', 'Iron deficiency anemia', 'Polycythemia', 'Anemia', 'Acidosis', 'Pulmonary embolism', 'Hematemesis', 'Colitis', 'Intestinal bleeding', 'Duodenal ulcer', 'Venous thrombosis', 'Portal vein thrombosis', 'Hernia']; + +var bayesian = require('./BayesianAlgorithm/bayesian'); + +bayesian.likelihoodCalculator(input_symptoms).then(ranking => { + var ordered_ranking = ranking.sort(function(a,b){return b.score - a.score}) + var results = [] + for (var i=0; i < 10; i++){ + results.push({name: ordered_ranking[i].disease.disease_name,score: ordered_ranking[i].score}) + } + console.log('Bayesian Test Results') + console.log(results) +}) + + +distance.distanceCalculator(input_symptoms).then(ranking => { + var ordered_ranking = ranking.sort(function(a,b){return a.score - b.score}) + var results = [] + for (var i=0; i < 10; i++){ + results.push({name: ordered_ranking[i].disease.disease_name,score: ordered_ranking[i].score}) + } + console.log('Distance Test Results') + console.log(results) +}) + +combination.combination(input_symptoms).then(ranking => { + var ordered_ranking = ranking.sort(function(a,b){return a.score - b.score}) + var results = [] + for (var i=0; i < 10; i++){ + results.push({name: ordered_ranking[i].disease.disease_name,score: ordered_ranking[i].score}) + } + console.log('Combination Test Results') + console.log(results) +}) diff --git a/BayesianAlgorithm/bayesionmodel.js b/BayesianAlgorithm/bayesionmodel.js deleted file mode 100644 index 2a5ed81..0000000 --- a/BayesianAlgorithm/bayesionmodel.js +++ /dev/null @@ -1,122 +0,0 @@ - -// likelihood function takes the input symptoms of the patient -// and returns a Map of key value pairs -// Key = the likelihood of a specific disease given those Symptoms -// Value = the orpha number of the disease - // this is because we can then get the disease back given its likelihood (in calculate) since we only - // want the diseases with the highest likelihoods -function likelihood(inputsymptoms, database, getdata_controller, matrix, inheritance, symptoms) { - - var likelihood_map = new Map(); - let total_symptomcount = 0; - let input = []; - for (i of inputsymptoms) { - input.push(symptoms.get(i)); - } - - let superclasses = module.exports.superclasses(input, inheritance); - let subclasses = module.exports.subclasses(input, inheritance); - let return_subclass = []; - - // we calculate the likelihood for all diseases - for (correlation of matrix) { - let frequency = 0; - let matches = 0; - let importance = 1; - - let num_diseases = matrix.length; - - let num_input = parseFloat(input.length); - let frequencysum = 0; - // correlation = (disease, symptom, frequency) - - for (const symptom of correlation.slice(1)) { - // symptom = [HP, frequency] - frequencysum += parseFloat(symptom[1]); - - if (input.includes(symptom[0])) { - matches += 1; - frequency += parseFloat(symptom[1]); - } - -// // NOTE: -// I would say let's only do this on the first round. if they then specify the symptoms we suggest, -// we no longer take into account the superclasses - else if (superclasses.includes(symptom[0])) { - matches += 1; - frequency += parseFloat(symptom[1]); - } - - else if (subclasses.includes(symptom[0]) && !return_subclass.includes(symptoms.get(symptom[0]))) { - return_subclass.push(symptoms.get(symptom[0])) - } - } - if (matches != 0) { - let likelihood = (frequency / frequencysum) * (matches/num_input); - likelihood_map.set(likelihood, correlation[0]) - } - } - - // want to ask about the subclasses of symptoms that were inputted - // after the user selects any subclasses the code would be run again - // but would not take into account symptom superclasses anymore - console.log("do you have any of the following symptoms? " + return_subclass ) - return likelihood_map; -} - -// currently we do not have any prior (uninformative prior) -function prior() { - return 1; -} - -// this takes the input symptom of the user and the inheritance map of the Symptoms -// and returns a list of all of the subclasses of the inputted symptoms -function subclasses(inputsymptoms, inheritance) { - let subclasses = []; - for (i of inheritance) { - if (inputsymptoms.includes(i[0]) && !subclasses.includes(i[1])) { - subclasses.push(i[1]); - } - } - return subclasses; -} - -// this takes the input symptoms of the user and the inheritance map of the Symptoms -// and returns a list of all of the superclasses of the inputted symptoms -function superclasses(inputsymptoms, inheritance) { - let superclasses = []; - for (i of inheritance) { - if (inputsymptoms.includes(i[1]) && !superclasses.includes(i[0])) { - superclasses.push(i[0]); - } - } - return superclasses; -} - -// this takes in all diseases and their Symptoms -// and returns a key value map -// key = a symptom -// value = the "weight" of the symptom calculated by (how many diseases have that symptom / total number of Diseases) -// we are currently not using this -function weights(correlations) { - let counts = new Map(); - let count = 0; - let total = correlations.length; - for (var correlation of correlations) { - count += 1; - var hp = correlation[1]; - if (counts.has(hp)) { - counts.set(hp, (counts.get(hp)*total+1)/total); - } - else { - counts.set(hp, 1/total); - } - } - return counts; -} -module.exports = { - likelihood, - weights, - superclasses, - subclasses -}; diff --git a/BayesianAlgorithm/calculate.js b/BayesianAlgorithm/calculate.js deleted file mode 100644 index c801a0e..0000000 --- a/BayesianAlgorithm/calculate.js +++ /dev/null @@ -1,62 +0,0 @@ -// problem is we always get diseases with very few symtpms -// want to emphasize similar symptoms over few symptoms -var queries = require('./BayesianAlgorithm(1)/queries'); -var q = require('q'); -var database = require('./BayesianAlgorithm(1)/db_connection') -var getdata_controller = require('./BayesianAlgorithm(1)/getData'); -var bayesionmodel = require('./BayesianAlgorithm(1)/bayesionmodel'); - -let inputsymptoms = ['Arthritis', 'Fever', 'Anorexia', 'Immunodeficiency', 'Arthralgia', 'Erythema', 'Neutrophilia', 'Hepatitis','Pharyngitis'] - -queries.getSymptoms(database, q, getdata_controller).then(function(query) { - let symptoms = query; - -queries.getDiseases(database, q, getdata_controller).then(function(query) { - let diseases = query; - -queries.getInheritance(database, q, getdata_controller).then(function(query) { - let inheritance = query; - -queries.getCorrelations(database, q, getdata_controller).then(function(query) { - var correlations = list; - // matrix of diseases and corresponding symptoms - let matrix = getdata_controller.getCorrelationMatrix(correlations); - - //let weights = bm.weights(correlations); - - // this is a map of diseases and their corresponding likelihood based on the input symptoms - var posterior = bayesionmodel.likelihood(inputsymptoms, database, getdata_controller, matrix, inheritance, symptoms); - - let totalsymptomcount = 0; - let prior = 1; - let values = [] - - for (const [key, value] of posterior.entries()) { - values.push(key); - } - - values.sort(function(a, b){ return b - a;}); - - // we print the 10 most likely diseases - for (var i=0; i< 10; i++) { - console.log(diseases.get(posterior.get(values[i]))); - //console.log(values[i]) - } - - - let count = 0; - - for (var i=0; i< 100; i++) { - count += 1; - if (diseases.get(posterior.get(values[i])) == "Adult-onset Still disease") { - console.log(count) - } - } - - database.end(); - - }); - -}); -}); -}); diff --git a/BayesianAlgorithm/db_connection.js b/BayesianAlgorithm/db_connection.js deleted file mode 100644 index 9a0e911..0000000 --- a/BayesianAlgorithm/db_connection.js +++ /dev/null @@ -1,15 +0,0 @@ -var mysql = require('mysql'); - -var con = mysql.createConnection({ - host: "localhost", - user: "axel", - password: "pass", - database: "RareDiagnostics" -}); - -con.connect(function(err) { - if (err) throw err; - console.log("Connected!"); -}); - - module.exports = con; diff --git a/BayesianAlgorithm/getData.js b/BayesianAlgorithm/getData.js deleted file mode 100644 index b6d1ebe..0000000 --- a/BayesianAlgorithm/getData.js +++ /dev/null @@ -1,58 +0,0 @@ - -// this function makes a general query to the SQL database -// returns a promise -function makeQuery(database, q, query_str, element1, element2, element3) -{ - list = [] - var deferred = q.defer(); // Use Q - - var quer = database.query(query_str, function (err, rows, fields) { - //if (err) throw err; - if (err) { - //throw err; - deferred.reject(err); - } - else { - rows.forEach( (row) => { - entry = [] - entry.push(`${row[element1]}`); - entry.push(`${row[element2]}`); - if (`${row[element3]}` != "undefined") { - entry.push(`${row[element3]}`); - } - list.push(entry); - }); - deferred.resolve(list); - } - }); - -return deferred.promise; -} - -//this function returns a matrix of correlation = [disease, symptom, frequency] -function getCorrelationMatrix(correlations) { - var matrix = []; - var disease = correlations[0][0]; - var entry = [disease]; - var count = 0; - for (correlation of correlations) { - var symptom = [] - if (entry[0] == correlation[0]) { - // we have the first disease still - symptom.push(correlation[1]); - symptom.push(correlation[2]); - entry.push(symptom); - } - else { - count += 1; - matrix.push(entry); - entry = [correlation[0]]; - } - } - return matrix; - } - -module.exports = { - getCorrelationMatrix, - makeQuery, -}; diff --git a/BayesianAlgorithm/queries.js b/BayesianAlgorithm/queries.js deleted file mode 100644 index 2e9e4c2..0000000 --- a/BayesianAlgorithm/queries.js +++ /dev/null @@ -1,50 +0,0 @@ - -async function getCorrelations(db, q, getData) { - var query = await getData.makeQuery(db, q, "SELECT * FROM Correlation", "disease_orpha", "symptom_id", "frequency") - .then(function(rows) { - var correlations = list; - return correlations; - }); - return query; -} - -async function getDiseases(db, q, getData) { - var map = new Map(); - var query = await getData.makeQuery(db, q, "SELECT * FROM Disease", "orpha_number", "type", "disease_name") - .then(function(rows) { - var diseases = list; - for (i of diseases) { map.set(i[0],i[2])}; - return map; - }); - return query; -} - -async function getSymptoms(db, q, getData) { - - var map = new Map(); - var query = await getData.makeQuery(db, q, "SELECT * FROM Symptom", "id", "definition", "symptom_name") - .then(function(rows) { - var symptoms = list; - for (i of symptoms) { map.set(i[2], i[0]); map.set(i[0],i[2])}; - return map; - }); - return query; -} - -async function getInheritance(db, q, getData) { - var query = await getData.makeQuery(db, q, "SELECT * FROM SymptomInheritance", "superclass_id", "subclass_id") - .then(function(rows) { - var inheritance = list; - return inheritance; - - }); - return query; -} - - -module.exports = { - getCorrelations, - getInheritance, - getDiseases, - getSymptoms -}; diff --git a/BayesianAlgorithm/testing.js b/BayesianAlgorithm/testing.js deleted file mode 100644 index 73d71f3..0000000 --- a/BayesianAlgorithm/testing.js +++ /dev/null @@ -1,5 +0,0 @@ -var queries = require('./Algorithm/queries'); -var q = require('q'); -var database = require('./Algorithm/db_connection') -var getdata_controller = require('./Algorithm/getData'); -var bayesionmodel = require('./Algorithm/bayesionmodel'); diff --git a/Parsers/checksymptoms.py b/Database/Parsers/checksymptoms.py similarity index 100% rename from Parsers/checksymptoms.py rename to Database/Parsers/checksymptoms.py diff --git a/Parsers/correlationparser.py b/Database/Parsers/correlationparser.py similarity index 100% rename from Parsers/correlationparser.py rename to Database/Parsers/correlationparser.py diff --git a/Parsers/diseaseparser.py b/Database/Parsers/diseaseparser.py similarity index 60% rename from Parsers/diseaseparser.py rename to Database/Parsers/diseaseparser.py index 4042cc0..e1cadac 100644 --- a/Parsers/diseaseparser.py +++ b/Database/Parsers/diseaseparser.py @@ -15,12 +15,16 @@ #functionalconsequences_tree = ET.parse(urlopen("http://www.orphadata.org/data/xml/en_funct_consequences.xml")) #fc_root = functionalconsequences_tree.getroot() -insert = "INSERT INTO Disease VALUES" +#insert = "INSERT INTO Diseases VALUES" +insert_synonym = "INSERT INTO DiseaseSynonyms VALUES" if __name__ == "__main__": - insert_file = "USE RareDiagnostics;\n\n" - + #insert_file = "USE RareDiagnostics;\n\n" + insert_synonym_file = "USE RareDiagnostics;\n\n" for disorder in generalroot[1]: + synonyms = [] + for synonym in disorder[4]: + synonyms.append(synonym.text) orpha = disorder[0].text name = disorder[2].text type = disorder[5][0].text @@ -30,8 +34,16 @@ definition = "no definition available" insert_row = "('{}', '{}', '{}', '{}'),".format(orpha, name.replace("'", "`"), type.replace("'", "`"), definition.replace("'", "`")) - insert += insert_row + "\n" - insert_file += insert + ";" + for synonym in synonyms: + insert_synonym_row = "('{}','{}'),".format(orpha, synonym.replace("'", "`")) + insert_synonym += insert_synonym_row + "\n" + + insert_synonym_file += insert_synonym + ";" + #insert += insert_row + "\n" + + #insert_file += insert + ";" - with open("Database/insertDiseases.sql", "w+") as file: - file.write(insert_file) + #with open("Database/insertDiseases.sql", "w+") as file: + # file.write(insert_file) + with open("Database/insertDiseaseSynonyms.sql", "w+") as file: + file.write(insert_synonym_file) diff --git a/Parsers/symptomparser.py b/Database/Parsers/symptomparser.py similarity index 100% rename from Parsers/symptomparser.py rename to Database/Parsers/symptomparser.py diff --git a/Database/backup2.sql b/Database/backup2.sql new file mode 100644 index 0000000..e9f0279 --- /dev/null +++ b/Database/backup2.sql @@ -0,0 +1,173 @@ +-- MariaDB dump 10.17 Distrib 10.4.13-MariaDB, for osx10.15 (x86_64) +-- +-- Host: localhost Database: RareDiagnostics +-- ------------------------------------------------------ +-- Server version 10.4.13-MariaDB + +/*!40101 SET @OLD_CHARACTER_SET_CLIENT=@@CHARACTER_SET_CLIENT */; +/*!40101 SET @OLD_CHARACTER_SET_RESULTS=@@CHARACTER_SET_RESULTS */; +/*!40101 SET @OLD_COLLATION_CONNECTION=@@COLLATION_CONNECTION */; +/*!40101 SET NAMES utf8mb4 */; +/*!40103 SET @OLD_TIME_ZONE=@@TIME_ZONE */; +/*!40103 SET TIME_ZONE='+00:00' */; +/*!40014 SET @OLD_UNIQUE_CHECKS=@@UNIQUE_CHECKS, UNIQUE_CHECKS=0 */; +/*!40014 SET @OLD_FOREIGN_KEY_CHECKS=@@FOREIGN_KEY_CHECKS, FOREIGN_KEY_CHECKS=0 */; +/*!40101 SET @OLD_SQL_MODE=@@SQL_MODE, SQL_MODE='NO_AUTO_VALUE_ON_ZERO' */; +/*!40111 SET @OLD_SQL_NOTES=@@SQL_NOTES, SQL_NOTES=0 */; + +-- +-- Current Database: `RareDiagnostics` +-- + +CREATE DATABASE /*!32312 IF NOT EXISTS*/ `RareDiagnostics` /*!40100 DEFAULT CHARACTER SET utf8mb4 */; + +USE `RareDiagnostics`; + +-- +-- Table structure for table `Correlations` +-- + +DROP TABLE IF EXISTS `Correlations`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `Correlations` ( + `disease_orpha` varchar(10) DEFAULT NULL, + `symptom_id` varchar(255) DEFAULT NULL, + `frequency` float DEFAULT NULL, + KEY `disease_orpha` (`disease_orpha`), + KEY `symptom_id` (`symptom_id`), + CONSTRAINT `correlations_ibfk_1` FOREIGN KEY (`disease_orpha`) REFERENCES `diseases` (`orpha_number`) ON DELETE CASCADE, + CONSTRAINT `correlations_ibfk_2` FOREIGN KEY (`symptom_id`) REFERENCES `symptoms` (`id`) ON DELETE CASCADE +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `Correlations` +-- + +LOCK TABLES `Correlations` WRITE; +/*!40000 ALTER TABLE `Correlations` DISABLE KEYS */; +INSERT INTO `Correlations` VALUES 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+/*!40000 ALTER TABLE `Correlations` ENABLE KEYS */; +UNLOCK TABLES; + +-- +-- Table structure for table `Diseases` +-- + +DROP TABLE IF EXISTS `Diseases`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `Diseases` ( + `orpha_number` varchar(10) NOT NULL, + `disease_name` varchar(255) DEFAULT NULL, + `type` varchar(100) DEFAULT NULL, + `definition` text DEFAULT NULL, + PRIMARY KEY (`orpha_number`) +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `Diseases` +-- + +LOCK TABLES `Diseases` WRITE; +/*!40000 ALTER TABLE `Diseases` DISABLE KEYS */; +INSERT INTO `Diseases` VALUES ('10','48,XXYY syndrome','Malformation syndrome','A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.'),('100','Ataxia-telangiectasia','Disease','A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.'),('1000','Ocular albinism with late-onset sensorineural deafness','Disease','Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.'),('100000','Reticular perineurioma','Clinical subtype','no definition available'),('100001','Sclerosing perineurioma','Clinical subtype','no definition available'),('100002','Extraneural perineurioma','Disease','Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.'),('100003','Intraneural perineurioma','Disease','Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.'),('100006','ABeta amyloidosis, Dutch type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.'),('100008','ACys amyloidosis','Clinical subtype','A form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.'),('100011','Lissencephaly with cerebellar hypoplasia type A','Malformation syndrome','A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.'),('100012','Lissencephaly with cerebellar hypoplasia type B','Malformation syndrome','A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.'),('100013','Lissencephaly with cerebellar hypoplasia type C','Malformation syndrome','A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.'),('100014','Lissencephaly with cerebellar hypoplasia type D','Malformation syndrome','A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.'),('100015','Lissencephaly with cerebellar hypoplasia type E','Malformation syndrome','A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.'),('100016','Lissencephaly with cerebellar hypoplasia type F','Malformation syndrome','A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.'),('100019','Refractory anemia with excess blasts type 1','Clinical subtype','A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.'),('100020','Refractory anemia with excess blasts type 2','Clinical subtype','A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.'),('100021','Primary plasmacytoma of the bone','Clinical subtype','no definition available'),('100022','Extramedullary soft tissue plasmacytoma','Clinical subtype','no definition available'),('100024','Mu-heavy chain disease','Clinical subtype','A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).'),('100025','Alpha-heavy chain disease','Clinical subtype','A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.'),('100026','Gamma-heavy chain disease','Clinical subtype','A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.'),('100031','Hypoplastic amelogenesis imperfecta','Clinical subtype','no definition available'),('100032','Hypocalcified amelogenesis imperfecta','Clinical subtype','no definition available'),('100033','Hypomaturation amelogenesis imperfecta','Clinical subtype','no definition available'),('100034','Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism','Clinical subtype','no definition available'),('100035','Solitary necrotic nodule of the liver','Disease','A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.'),('100039','Familial pseudohyperkalemia type 1','Clinical subtype','no definition available'),('100040','OBSOLETE: Familial pseudohyperkalemia type 2','Clinical subtype','no definition available'),('100041','OBSOLETE: Familial pseudohyperkalemia, Cardiff type','Clinical subtype','no definition available'),('100043','Autosomal dominant intermediate Charcot-Marie-Tooth disease type A','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.'),('100044','Autosomal dominant intermediate Charcot-Marie-Tooth disease type B','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.'),('100045','Autosomal dominant intermediate Charcot-Marie-Tooth disease type C','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.'),('100046','Autosomal dominant intermediate Charcot-Marie-Tooth disease type D','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.'),('100047','Esophageal duplication cyst','Morphological anomaly','Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.'),('100048','Tubular duplication of the esophagus','Morphological anomaly','A rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.'),('100049','Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies','Category','A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.'),('100050','Hereditary angioedema type 1','Etiological subtype','A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100051','Hereditary angioedema type 2','Etiological subtype','Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100054','F12-related hereditary angioedema with normal C1Inh','Etiological subtype','Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100055','Acquired angioedema type 2','Clinical subtype','A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100056','Acquired angioedema type 1','Clinical subtype','A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100057','Renin-angiotensin-aldosterone system-blocker-induced angioedema','Disease','Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100067','Waterhouse-Friderichsen syndrome','Clinical subtype','no definition available'),('100069','Semantic dementia','Disease','Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.'),('100070','Progressive non-fluent aphasia','Disease','Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.'),('100071','Mosaic trisomy 3','Malformation syndrome','Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.'),('100072','OBSOLETE: True vascular thoracic outlet syndrome','Disease','no definition available'),('100073','Neurogenic thoracic outlet syndrome','Clinical subtype','Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.'),('100075','Neuroendocrine tumor of stomach','Disease','Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.'),('100076','Duodenal neuroendocrine tumor','Category','no definition available'),('100077','Jejunal neuroendocrine tumor','Category','Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.'),('100078','Ileal neuroendocrine tumor','Disease','Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.'),('100079','Neuroendocrine neoplasm of appendix','Disease','Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).'),('100080','Neuroendocrine tumor of the colon','Disease','A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).'),('100081','Neuroendocrine tumor of the rectum','Disease','Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.'),('100082','Neuroendocrine tumor of anal canal','Disease','Neuroendocrine tumor of the anal canal is an epithelial tumor of anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).'),('100083','Laryngeal neuroendocrine tumor','Disease','no definition available'),('100084','Middle ear neuroendocrine tumor','Disease','Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.'),('100085','Primary hepatic neuroendocrine carcinoma','Disease','Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.'),('100086','Gallbladder neuroendocrine tumor','Disease','A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.'),('100087','Thyroid tumor','Category','no definition available'),('100088','Thyroid carcinoma','Category','no definition available'),('100090','Rare parathyroid tumor','Category','no definition available'),('100091','Adrenal/paraganglial tumor','Category','no definition available'),('100092','Gastroenteropancreatic neuroendocrine neoplasm','Category','no definition available'),('100093','Carcinoid syndrome','Clinical syndrome','A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.'),('100094','Multiple polyglandular tumor','Category','no definition available'),('1001','2q37 microdeletion syndrome','Malformation syndrome','A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.'),('100100','Thymic tumor','Category','no definition available'),('100101','Neuroendocrine tumor with other location','Category','no definition available'),('1002','NON RARE IN EUROPE: Cluster headache','Disease','no definition available'),('1003','Scalp defects-postaxial polydactyly syndrome','Malformation syndrome','Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.'),('1005','Alopecia-contractures-dwarfism-intellectual disability syndrome','Malformation syndrome','A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.'),('1006','Alopecia antibody deficiency','Disease','A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.'),('100642','NON RARE IN EUROPE: Gonorrhea','Disease','no definition available'),('1008','Alopecia-epilepsy-pyorrhea-intellectual disability syndrome','Disease','A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.'),('100924','Porphyria due to ALA dehydratase deficiency','Disease','Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.'),('100932','OBSOLETE: Nuclear oculomotor paralysis','Category','no definition available'),('100973','FRAXE intellectual disability','Disease','FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.'),('100974','FRAXF syndrome','Disease','FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.'),('100976','Bathing suit ichthyosis','Disease','Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.'),('100978','Cloverleaf skull-asphyxiating thoracic dysplasia syndrome','Malformation syndrome','A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.'),('100979','Autosomal dominant complex spastic paraplegia','Clinical group','no definition available'),('100980','Autosomal dominant pure spastic paraplegia','Clinical group','no definition available'),('100981','Autosomal recessive complex spastic paraplegia','Clinical group','no definition available'),('100982','Autosomal recessive pure spastic paraplegia','Clinical group','no definition available'),('100984','Autosomal dominant spastic paraplegia type 3','Disease','A rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.'),('100985','Autosomal dominant spastic paraplegia type 4','Disease','A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.'),('100986','Autosomal recessive spastic paraplegia type 5A','Disease','Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.'),('100988','Autosomal dominant spastic paraplegia type 6','Disease','A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.'),('100989','Autosomal dominant spastic paraplegia type 8','Disease','A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated.'),('100990','OBSOLETE: Autosomal dominant spastic paraplegia type 9','Disease','no definition available'),('100991','Autosomal dominant spastic paraplegia type 10','Disease','A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.'),('100993','Autosomal dominant spastic paraplegia type 12','Disease','A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.'),('100994','Autosomal dominant spastic paraplegia type 13','Disease','A rare hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs.'),('100995','Autosomal recessive spastic paraplegia type 14','Disease','Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.'),('100996','Autosomal recessive spastic paraplegia type 15','Disease','Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.'),('100997','X-linked spastic paraplegia type 16','Disease','A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.'),('100998','Autosomal dominant spastic paraplegia type 17','Disease','A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.'),('100999','Autosomal dominant spastic paraplegia type 19','Disease','A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.'),('101','Dentatorubral pallidoluysian atrophy','Disease','A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.'),('1010','Autosomal dominant palmoplantar keratoderma and congenital alopecia','Disease','A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.'),('101000','Autosomal recessive spastic paraplegia type 20','Disease','Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.'),('101001','Autosomal recessive spastic paraplegia type 21','Disease','Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.'),('101003','Autosomal recessive spastic paraplegia type 23','Disease','Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ``sharp`` features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.'),('101004','Autosomal recessive spastic paraplegia type 24','Disease','A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.'),('101005','Autosomal recessive spastic paraplegia type 25','Disease','Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.'),('101006','Autosomal recessive spastic paraplegia type 26','Disease','Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.'),('101007','Autosomal recessive spastic paraplegia type 27','Disease','Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.'),('101008','Autosomal recessive spastic paraplegia type 28','Disease','Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.'),('101009','Autosomal dominant spastic paraplegia type 29','Disease','A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.'),('101010','Autosomal spastic paraplegia type 30','Disease','Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.'),('101011','Autosomal dominant spastic paraplegia type 31','Disease','A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.'),('101016','Romano-Ward syndrome','Disease','Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).'),('101022','Mediterranean macrothrombocytopenia','Disease','no definition available'),('101023','Cleft hard palate','Morphological anomaly','no definition available'),('101028','Transaldolase deficiency','Disease','Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.'),('101029','Sub-cortical nodular heterotopia','Clinical subtype','no definition available'),('101030','Subependymal nodular heterotopia','Clinical subtype','no definition available'),('101033','OBSOLETE: Peters anomaly-cataract syndrome','Clinical subtype','no definition available'),('101036','OBSOLETE: Zlotogura-Martinez syndrome','Malformation syndrome','no definition available'),('101039','Female restricted epilepsy with intellectual disability','Disease','Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.'),('101041','Familial hypofibrinogenemia','Clinical subtype','Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.'),('101042','OBSOLETE: Taussig-Bing syndrome','Clinical subtype','no definition available'),('101043','Congenital aortic valve dysplasia','Clinical subtype','no definition available'),('101046','Autosomal dominant epilepsy with auditory features','Disease','A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.'),('101049','Familial hypocalciuric hypercalcemia type 2','Etiological subtype','no definition available'),('101050','Familial hypocalciuric hypercalcemia type 3','Etiological subtype','no definition available'),('101052','OBSOLETE: Microlissencephaly type B','Disease','no definition available'),('101063','Situs inversus totalis','Morphological anomaly','A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.'),('101068','Congenital stromal corneal dystrophy','Disease','Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.'),('101070','Bilateral frontoparietal polymicrogyria','Clinical subtype','Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.'),('101071','Unilateral hemispheric polymicrogyria','Clinical subtype','no definition available'),('101075','X-linked Charcot-Marie-Tooth disease type 1','Disease','X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.'),('101076','X-linked Charcot-Marie-Tooth disease type 2','Disease','X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.'),('101077','X-linked Charcot-Marie-Tooth disease type 3','Disease','X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.'),('101078','X-linked Charcot-Marie-Tooth disease type 4','Disease','X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.'),('101081','Charcot-Marie-Tooth disease type 1A','Disease','no definition available'),('101082','Charcot-Marie-Tooth disease type 1B','Disease','Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.'),('101083','Charcot-Marie-Tooth disease type 1C','Disease','A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.'),('101084','Charcot-Marie-Tooth disease type 1D','Disease','Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.'),('101085','Charcot-Marie-Tooth disease type 1F','Disease','Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ``demyelinating`` form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).'),('101088','X-linked hyper-IgM syndrome','Clinical subtype','no definition available'),('101089','Hyper-IgM syndrome type 2','Clinical subtype','no definition available'),('101090','Hyper-IgM syndrome type 3','Clinical subtype','no definition available'),('101091','Hyper-IgM syndrome type 4','Clinical subtype','no definition available'),('101092','Hyper-IgM syndrome type 5','Clinical subtype','no definition available'),('101096','Aregenerative anemia','Disease','no definition available'),('101097','Autosomal recessive Charcot-Marie-Tooth disease with hoarseness','Disease','A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.'),('1011','Alopecia-hypogonadism-extrapyramidal syndrome','Disease','no definition available'),('101101','Charcot-Marie-Tooth disease type 2B2','Disease','Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.'),('101102','Charcot-Marie-Tooth disease type 2H','Disease','Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.'),('101104','Marin-Amat syndrome','Clinical subtype','no definition available'),('101106','OBSOLETE: Non-secreting chemodectoma','Clinical subtype','no definition available'),('101107','Spinocerebellar ataxia type 22','Disease','no definition available'),('101108','Spinocerebellar ataxia type 23','Disease','Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.'),('101109','Spinocerebellar ataxia type 28','Disease','Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.'),('101110','Spinocerebellar ataxia type 20','Disease','Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.'),('101111','Spinocerebellar ataxia type 25','Disease','Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.'),('101112','Spinocerebellar ataxia type 26','Disease','A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.'),('101150','Autosomal recessive dopa-responsive dystonia','Disease','A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.'),('101151','Dystonia 14','Disease','no definition available'),('101206','Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome','Malformation syndrome','Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.'),('101330','Porphyria cutanea tarda','Disease','Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.'),('101334','African tick typhus','Disease','A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.'),('101335','OBSOLETE: Indian tick typhus','Etiological subtype','no definition available'),('101336','OBSOLETE: Kenya tick typhus','Etiological subtype','no definition available'),('101337','OBSOLETE: Marseilles fever','Etiological subtype','no definition available'),('101338','OBSOLETE: Mediterranean spotted fever','Etiological subtype','no definition available'),('101351','Familial isolated congenital asplenia','Morphological anomaly','Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.'),('101356','OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome','Disease','no definition available'),('1014','Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome','Disease','This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.'),('101433','Rare urogenital disease','Category','no definition available'),('101435','Rare genetic eye disease','Category','no definition available'),('101685','Rare non-syndromic intellectual disability','Disease','Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.'),('1018','X-linked Alport syndrome-diffuse leiomyomatosis','Clinical subtype','A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.'),('1019','Epstein syndrome','Clinical subtype','no definition available'),('101932','Anomaly of the mitral subvalvular apparatus','Morphological anomaly','no definition available'),('101934','Genetic cardiac rhythm disease','Category','no definition available'),('101936','Rare gastroesophageal disease','Category','no definition available'),('101937','Rare pancreatic disease','Category','no definition available'),('101938','Rare vascular liver disease','Category','no definition available'),('101939','Rare parenchymal liver disease','Category','no definition available'),('101940','Rare metabolic liver disease','Category','no definition available'),('101941','Rare biliary tract disease','Category','no definition available'),('101943','Rare hepatic and biliary tract tumor','Category','no definition available'),('101944','Rare pulmonary disease','Category','no definition available'),('101945','Rare bronchopulmonary tumor','Category','no definition available'),('101949','OBSOLETE: Rare acquired eye disease','Category','no definition available'),('101950','Rare eye tumor','Category','no definition available'),('101952','Rare diabetes mellitus','Category','no definition available'),('101953','Rare dyslipidemia','Category','no definition available'),('101954','Rare adrenal disease','Category','no definition available'),('101955','Rare thyroid disease','Category','no definition available'),('101956','Polyendocrinopathy','Category','no definition available'),('101957','Pituitary deficiency','Category','no definition available'),('101958','Primary adrenal insufficiency','Category','no definition available'),('101959','Chronic primary adrenal insufficiency','Category','Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.'),('101960','Genetic chronic primary adrenal insufficiency','Category','no definition available'),('101963','Acquired chronic primary adrenal insufficiency','Category','no definition available'),('101972','Combined T and B cell immunodeficiency','Clinical group','no definition available'),('101977','Immunodeficiency predominantly affecting antibody production','Category','no definition available'),('101978','OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells','Clinical group','no definition available'),('101980','OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells','Clinical group','no definition available'),('101982','OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells','Clinical group','no definition available'),('101985','Quantitative and/or qualitative congenital phagocyte defect','Category','no definition available'),('101987','Constitutional neutropenia','Category','no definition available'),('101988','Primary immunodeficiency due to a defect in innate immunity','Category','no definition available'),('101992','Immunodeficiency due to a complement cascade protein anomaly','Category','no definition available'),('101995','Periodic fever syndrome','Category','no definition available'),('101997','Primary immunodeficiency','Category','no definition available'),('101998','Rare epilepsy','Category','no definition available'),('102','Multiple system atrophy','Disease','Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.'),('1020','Early-onset autosomal dominant Alzheimer disease','Disease','Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.'),('102000','Medullar disease','Category','no definition available'),('102002','Rare ataxia','Category','no definition available'),('102003','Rare movement disorder','Category','no definition available'),('102005','Brain inflammatory disease','Category','no definition available'),('102006','Neurovascular malformation','Category','no definition available'),('102009','Classic lissencephaly','Clinical group','no definition available'),('102010','Other syndrome with lissencephaly as a major feature','Category','no definition available'),('102011','Lissencephaly type 3','Clinical group','no definition available'),('102012','Pure hereditary spastic paraplegia','Clinical group','no definition available'),('102013','Complex hereditary spastic paraplegia','Clinical group','no definition available'),('102014','Autosomal dominant limb-girdle muscular dystrophy','Category','no definition available'),('102015','Autosomal recessive limb-girdle muscular dystrophy','Category','no definition available'),('102020','Autosomal monosomy','Category','no definition available'),('102021','Rickettsial disease','Category','no definition available'),('102022','Spotted fever rickettsiosis','Category','no definition available'),('102023','Typhus-group rickettsiosis','Category','no definition available'),('102024','Human herpesvirus 8-related disorder','Category','no definition available'),('102025','OBSOLETE: Nuclear cell envelopathy','Category','no definition available'),('102069','OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis','Disease','no definition available'),('1021','Amaurosis-hypertrichosis syndrome','Disease','A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.'),('102237','Unexplained periodic fever syndrome','Category','no definition available'),('102283','Multiple congenital anomalies/dysmorphic syndrome-intellectual disability','Category','no definition available'),('102284','Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome','Category','no definition available'),('102285','Multiple congenital anomalies/dysmorphic syndrome without intellectual disability','Category','no definition available'),('1023','Congenital generalized hypertrichosis, Ambras type','Clinical subtype','Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.'),('102369','Rare syndromic intellectual disability','Category','no definition available'),('102373','OBSOLETE: Primary glomerular disease','Category','no definition available'),('102379','Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent','Disease','A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).'),('102381','Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor','Disease','A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.'),('1027','Autosomal recessive amelia','Malformation syndrome','A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.'),('102724','Acute myeloid leukemia with t(8;21)(q22;q22) translocation','Disease','A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.'),('1028','Amelo-onycho-hypohidrotic syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975.'),('103','OBSOLETE: Genetic optic atrophy','Clinical group','no definition available'),('1031','Enamel-renal syndrome','Malformation syndrome','A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.'),('1032','OBSOLETE: Hyperdibasic aminoaciduria type 1','Disease','no definition available'),('1034','OBSOLETE: Amniotic bands','Clinical group','no definition available'),('1035','Beta-mercaptolactate cysteine disulfiduria','Biological anomaly','An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.'),('1037','Arthrogryposis multiplex congenita','Clinical group','A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.'),('103907','Chronic diarrhea due to glucoamylase deficiency','Disease','This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.'),('103908','Congenital sodium diarrhea','Disease','Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.'),('103909','Trehalase deficiency','Disease','A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.'),('103910','Congenital enterocyte heparan sulfate deficiency','Disease','A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.'),('103912','OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome','Disease','no definition available'),('103915','OBSOLETE: Immunoproliferative small intestinal disease','Disease','no definition available'),('103916','OBSOLETE: Autoimmune enteropathy type 2','Disease','no definition available'),('103917','OBSOLETE: Autoimmune enteropathy type 3','Disease','no definition available'),('103918','Tropical pancreatitis','Disease','Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.'),('103919','Autoimmune pancreatitis','Disease','A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.'),('103920','Undetermined colitis','Disease','Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.'),('104','Leber hereditary optic neuropathy','Disease','Leber`s hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.'),('1040','Metaphyseal anadysplasia','Disease','Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.'),('104003','Congenital intestinal transport defect','Category','no definition available'),('104004','Intestinal disease due to vitamin absorption anomaly','Category','no definition available'),('104005','Intestinal disease due to fat malabsorption','Category','no definition available'),('104006','Congenital intestinal disease due to an enzymatic defect','Category','no definition available'),('104007','Congenital enteropathy involving intestinal mucosa development','Category','no definition available'),('104008','Short bowel syndrome','Clinical group','Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.'),('104009','Rare disease involving intestinal motility','Category','no definition available'),('104010','Intestinal polyposis syndrome','Clinical group','no definition available'),('104011','Rare tumor of intestine','Category','no definition available'),('104012','Rare inflammatory bowel disease','Category','no definition available'),('104013','Metabolic disease with intestinal involvement','Category','no definition available'),('104075','Adenocarcinoma of the small instestine','Disease','Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.'),('104076','Leiomyosarcoma of small intestine','Disease','Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.'),('104077','Myopathic intestinal pseudoobstruction','Etiological subtype','no definition available'),('104078','Unclassified intestinal pseudoobstruction','Etiological subtype','no definition available'),('1041','Hydrops fetalis','Malformation syndrome','Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).'),('1044','OBSOLETE: Anemia due to adenosine triphosphatase deficiency','Disease','no definition available'),('1046','Lethal hemolytic anemia-genital anomalies syndrome','Malformation syndrome','A rare syndrome characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.'),('1047','Sideroblastic anemia','Category','Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls` staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).'),('1048','Isolated anencephaly/exencephaly','Morphological anomaly','A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.'),('105','Atresia of urethra','Morphological anomaly','Aa rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.'),('1051','Ramos-Arroyo syndrome','Malformation syndrome','Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.'),('1052','Mosaic variegated aneuploidy syndrome','Malformation syndrome','Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.'),('1053','Vein of Galen aneurysmal malformation','Morphological anomaly','A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.'),('1054','Aneurysm of sinus of Valsalva','Morphological anomaly','Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.'),('1055','Congenital left ventricular aneurysm','Malformation syndrome','no definition available'),('1057','OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome','Malformation syndrome','no definition available'),('1059','Blue rubber bleb nevus','Malformation syndrome','A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.'),('106','NON RARE IN EUROPE: Autism','Malformation syndrome','no definition available'),('1060','Systemic cystic angiomatosis-Seip syndrome','Disease','no definition available'),('1062','Hereditary neurocutaneous malformation','Disease','A disorder characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.'),('1063','Tufted angioma','Disease','A very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.'),('1064','Aniridia-renal agenesis-psychomotor retardation syndrome','Malformation syndrome','An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.'),('1065','Aniridia-cerebellar ataxia-intellectual disability syndrome','Malformation syndrome','A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.'),('1067','Aniridia-ptosis-intellectual disability-familial obesity syndrome','Malformation syndrome','An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.'),('1068','Aniridia-intellectual disability syndrome','Malformation syndrome','An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.'),('1069','Aniridia-absent patella syndrome','Malformation syndrome','A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.'),('107','BOR syndrome','Malformation syndrome','Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).'),('1070','Anisakiasis','Disease','A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).'),('1071','Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome','Malformation syndrome','An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.'),('1072','Ankyloblepharon filiforme adnatum-cleft palate syndrome','Clinical subtype','A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.'),('1074','Ankyloblepharon filiforme adnatum-imperforate anus syndrome','Clinical subtype','An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.'),('1077','Dental ankylosis','Malformation syndrome','A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.'),('1078','Thumb stiffness-brachydactyly-intellectual disability syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.'),('108','Babesiosis','Disease','Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.'),('1081','Coronary artery congenital malformation','Category','no definition available'),('1083','Microlissencephaly','Morphological anomaly','Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.'),('1084','Isolated lissencephaly type 1 without known genetic defects','Disease','Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.'),('1088','OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome','Malformation syndrome','no definition available'),('108959','Non-syndromic esophageal malformation','Category','no definition available'),('108961','Syndromic esophageal malformation','Category','no definition available'),('108963','Non-syndromic gastroduodenal malformation','Category','no definition available'),('108965','Syndromic gastroduodenal malformation','Category','no definition available'),('108967','Non-syndromic intestinal malformation','Category','no definition available'),('108969','Syndromic intestinal malformation','Category','no definition available'),('108971','Non-syndromic visceral malformation','Category','no definition available'),('108973','Syndromic visceral malformation','Category','no definition available'),('108977','Non-syndromic diaphragmatic or abdominal wall malformation','Category','no definition available'),('108979','Syndromic diaphragmatic or abdominal wall malformation','Category','no definition available'),('108985','OBSOLETE: Non-syndromic developmental defect of the eye','Category','no definition available'),('108987','OBSOLETE: Syndromic developmental defect of the eye','Category','no definition available'),('108989','Non-syndromic central nervous system malformation','Category','no definition available'),('108991','Syndrome with a central nervous system malformation as a major feature','Category','no definition available'),('108993','Non-syndromic respiratory or mediastinal malformation','Category','no definition available'),('108995','Syndromic respiratory or mediastinal malformation','Category','no definition available'),('108997','Rare anemia','Category','no definition available'),('108999','Rare disorder due to toxic effects','Category','no definition available'),('109','Bannayan-Riley-Ruvalcaba syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.'),('109007','Arthrogryposis syndrome','Category','no definition available'),('109009','Syndrome with limb malformations as a major feature','Category','no definition available'),('109011','Non-syndromic limb malformation','Category','no definition available'),('1092','Renal-genital-middle ear anomalies','Malformation syndrome','no definition available'),('1094','Anonychia-microcephaly syndrome','Malformation syndrome','A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.'),('11','Pentasomy X','Malformation syndrome','Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).'),('110','Bardet-Biedl syndrome','Disease','Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.'),('1101','Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome','Malformation syndrome','Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.'),('1102','Anophthalmia-hypothalamo-pituitary insufficiency syndrome','Malformation syndrome','no definition available'),('1104','Anophthalmia plus syndrome','Malformation syndrome','A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.'),('1106','Microphthalmia with limb anomalies','Malformation syndrome','A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.'),('111','Barth syndrome','Disease','Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.'),('1110','Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome','Malformation syndrome','A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.'),('1112','Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome','Malformation syndrome','An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.'),('1113','Aphalangy-syndactyly-microcephaly syndrome','Malformation syndrome','An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.'),('1114','Aplasia cutis congenita','Malformation syndrome','A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.'),('1115','OBSOLETE: Recessive aplasia cutis congenita of limbs','Disease','no definition available'),('1116','Aplasia cutis congenita-intestinal lymphangiectasia syndrome','Disease','An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.'),('1117','Aplasia cutis-myopia syndrome','Disease','A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.'),('1118','Fibular aplasia-ectrodactyly syndrome','Malformation syndrome','A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.'),('112','Bartter syndrome','Disease','Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle`s loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.'),('1120','Lung agenesis-heart defect-thumb anomalies syndrome','Malformation syndrome','Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.'),('1121','Radial deficiency-tibial hypoplasia syndrome','Malformation syndrome','Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.'),('1122','Ulnar hypoplasia-split foot syndrome','Malformation syndrome','Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.'),('1123','Caudal appendage-deafness syndrome','Malformation syndrome','Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.'),('1125','Ocular motor apraxia, Cogan type','Disease','Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.'),('1126','Aprosencephaly cerebellar dysgenesis','Malformation syndrome','A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.'),('1129','Arachnodactyly-abnormal ossification-intellectual disability syndrome','Malformation syndrome','A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.'),('113','Bazex-Dupré-Christol syndrome','Disease','Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.'),('1130','Arachnodactyly-intellectual disability-dysmorphism syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.'),('1131','X-linked mandibulofacial dysostosis','Malformation syndrome','X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.'),('1132','Aortic arch defects','Category','no definition available'),('1133','AREDYLD syndrome','Malformation syndrome','A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.'),('1134','Isolated arrhinia','Malformation syndrome','An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.'),('1135','Arrhinia-choanal atresia-microphthalmia syndrome','Malformation syndrome','A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.'),('1136','Arnold-Chiari malformation type II','Morphological anomaly','A rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.'),('1137','OBSOLETE: Pulmonary aortic stenosis obstructive uropathy','Disease','no definition available'),('1138','Abnormal origin of the pulmonary artery','Clinical group','no definition available'),('1139','OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome','Disease','no definition available'),('114','Auriculoosteodysplasia','Malformation syndrome','A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.'),('1143','Neurogenic arthrogryposis multiplex congenita','Disease','Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.'),('1144','Arthrogryposis-like hand anomaly-sensorineural deafness syndrome','Malformation syndrome','A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.'),('1145','Infantile-onset X-linked spinal muscular atrophy','Disease','X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.'),('1146','Digitotalar dysmorphism','Malformation syndrome','Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).'),('1147','Sheldon-Hall syndrome','Malformation syndrome','Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.'),('1149','Kuskokwim syndrome','Malformation syndrome','A very rare congenital contracture disorder, reported exclusively in Yup`ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.'),('115','Congenital contractural arachnodactyly','Malformation syndrome','Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.'),('1150','Arthrogryposis multiplex congenita-whistling face syndrome','Malformation syndrome','An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.'),('1153','OBSOLETE: Transient neonatal arthrogryposis','Disease','no definition available'),('1154','Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome','Malformation syndrome','Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.'),('1155','OBSOLETE: Arthrogryposis due to muscular dystrophy','Disease','no definition available'),('1159','Progressive pseudorheumatoid arthropathy of childhood','Disease','Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.'),('116','Beckwith-Wiedemann syndrome','Malformation syndrome','Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.'),('1160','Chylous ascites','Disease','Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.'),('1162','NON RARE IN EUROPE: Asperger syndrome','Disease','no definition available'),('1163','Aspergillosis','Disease','A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.'),('1164','Allergic bronchopulmonary aspergillosis','Disease','A rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.'),('1166','Congenital unilateral hypoplasia of depressor anguli oris','Morphological anomaly','Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).'),('1167','OBSOLETE: Facial asymmetry-temporal seizures syndrome','Malformation syndrome','no definition available'),('1168','Ataxia-oculomotor apraxia type 1','Disease','A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.'),('117','Behçet disease','Disease','A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.'),('1170','Autosomal recessive cerebelloparenchymal disorder type 3','Disease','The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.'),('1171','Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome','Disease','Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.'),('1172','Autosomal recessive cerebellar ataxia','Category','A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.'),('1173','Cerebellar ataxia-hypogonadism syndrome','Disease','Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).'),('1174','Cerebellar ataxia-ectodermal dysplasia syndrome','Malformation syndrome','Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.'),('1175','X-linked progressive cerebellar ataxia','Disease','A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.'),('117569','Rare intestinal disease','Category','no definition available'),('117573','Syndromic anorectal malformation','Category','no definition available'),('1177','Early-onset cerebellar ataxia with retained tendon reflexes','Disease','Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.'),('1178','Ataxia-tapetoretinal degeneration syndrome','Disease','A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.'),('1179','Benign paroxysmal tonic upgaze of childhood with ataxia','Disease','Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.'),('118','Beta-mannosidosis','Disease','Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.'),('1180','Ataxia-hypogonadism-choroidal dystrophy syndrome','Disease','A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).'),('1182','Spastic ataxia with congenital miosis','Disease','Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.'),('1183','Opsoclonus-myoclonus syndrome','Disease','Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.'),('1184','Ataxia-photosensitivity-short stature syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.'),('1185','Spinocerebellar ataxia-dysmorphism syndrome','Disease','A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.'),('1186','Infantile-onset spinocerebellar ataxia','Disease','Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.'),('1187','Lethal ataxia with deafness and optic atrophy','Disease','Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.'),('1188','Ataxia-deafness-intellectual disability syndrome','Malformation syndrome','This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.'),('119','Beta-sarcoglycan-related limb-girdle muscular dystrophy R4','Disease','A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.'),('1190','Atelosteogenesis type I','Malformation syndrome','A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.'),('1192','Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome','Malformation syndrome','A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.'),('1193','Atkin-Flaitz syndrome','Malformation syndrome','A rare syndrome characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.'),('1194','TMEM70-related mitochondrial encephalo-cardio-myopathy','Disease','Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.'),('1195','Congenital atransferrinemia','Disease','Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.'),('1198','Colonic atresia','Morphological anomaly','Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.'),('1199','Esophageal atresia','Morphological anomaly','Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.'),('120','NON RARE IN EUROPE: Pernicious anemia','Disease','no definition available'),('1200','Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome','Malformation syndrome','Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).'),('1201','Atresia of small intestine','Morphological anomaly','A special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an `apple peel` and may have less than half of the normal length of the small bowel and a physiologically short bowel. This disorder is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. It may be a manifestation of cystic fibrosis and the most important cause of mortality is short bowel syndrome, encountered in 65% of cases.'),('1202','Larynx atresia','Malformation syndrome','no definition available'),('1203','Duodenal atresia','Morphological anomaly','Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.'),('1205','Mitral atresia','Morphological anomaly','no definition available'),('1207','Pulmonary atresia with ventricular septal defect','Morphological anomaly','Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).'),('1208','Pulmonary atresia-intact ventricular septum syndrome','Morphological anomaly','Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.'),('1209','Tricuspid atresia','Morphological anomaly','Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).'),('1211','OBSOLETE: Atrichia-mental and growth delay syndrome','Disease','no definition available'),('1214','Progressive hemifacial atrophy','Disease','Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.'),('1215','Autosomal dominant optic atrophy plus syndrome','Disease','A rare variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.'),('1216','Autosomal dominant congenital benign spinal muscular atrophy','Disease','A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.'),('1217','Spinal atrophy-ophthalmoplegia-pyramidal syndrome','Disease','Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.'),('1219','Aurocephalosyndactyly','Malformation syndrome','no definition available'),('122','Birt-Hogg-Dubé syndrome','Malformation syndrome','Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.'),('1221','Cheilitis glandularis','Disease','Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.'),('1223','Balantidiasis','Disease','Balantidiasis is an infectious disease, rare in western countries. It is caused by Balantidium coli, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.'),('1225','Baller-Gerold syndrome','Malformation syndrome','Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).'),('1226','Bamforth-Lazarus syndrome','Malformation syndrome','A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.'),('1227','Bangstad syndrome','Malformation syndrome','Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.'),('1228','Banki syndrome','Malformation syndrome','Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.'),('1229','Congenital intrauterine infection-like syndrome','Malformation syndrome','Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.'),('123','Björnstad syndrome','Disease','Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.'),('1231','Barber-Say syndrome','Malformation syndrome','Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.'),('1232','NON RARE IN EUROPE: Barrett esophagus','Disease','no definition available'),('1234','Bartsocas-Papas syndrome','Malformation syndrome','Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.'),('1235','OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome','Disease','no definition available'),('1236','Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome','Malformation syndrome','Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.'),('1237','Beemer-Ertbruggen syndrome','Malformation syndrome','Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.'),('1239','OBSOLETE: Behr syndrome','Malformation syndrome','no definition available'),('124','Blackfan-Diamond anemia','Disease','Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.'),('1240','Metaphyseal acroscyphodysplasia','Disease','Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.'),('1241','Bencze syndrome','Malformation syndrome','Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.'),('1243','Best vitelliform macular dystrophy','Disease','Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.'),('1244','NON RARE IN EUROPE: Bicuspid aortic valve','Morphological anomaly','no definition available'),('1245','BIDS syndrome','Malformation syndrome','no definition available'),('1246','Brachydactyly-nystagmus-cerebellar ataxia syndrome','Malformation syndrome','Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.'),('1247','Schistosomiasis','Disease','Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer`s itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.'),('1248','Maxillonasal dysplasia','Malformation syndrome','Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.'),('1249','OBSOLETE: Binswanger disease','Disease','no definition available'),('125','Bloom syndrome','Disease','Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.'),('1250','OBSOLETE: Blaichman syndrome','Malformation syndrome','no definition available'),('1251','Blepharofacioskeletal syndrome','Malformation syndrome','no definition available'),('1252','Blepharonasofacial malformation syndrome','Malformation syndrome','Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.'),('1253','Ascher syndrome','Malformation syndrome','A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.'),('1256','OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome','Malformation syndrome','no definition available'),('1258','OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome','Malformation syndrome','no definition available'),('1259','Blepharoptosis-myopia-ectopia lentis syndrome','Disease','This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.'),('126','Blepharophimosis-ptosis-epicanthus inversus syndrome','Malformation syndrome','A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).'),('1260','OBSOLETE: Sino-auricular heart block','Disease','no definition available'),('1261','Bonnemann-Meinecke-Reich syndrome','Malformation syndrome','Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.'),('1262','Böök syndrome','Malformation syndrome','Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.'),('1263','Boomerang dysplasia','Disease','Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.'),('1264','Tricho-retino-dento-digital syndrome','Malformation syndrome','Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.'),('1266','Dermato-cardio-skeletal syndrome, Borrone type','Malformation syndrome','no definition available'),('1267','Botulism','Disease','Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.'),('127','Borjeson-Forssman-Lehmann syndrome','Malformation syndrome','Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.'),('1270','Bowen-Conradi syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.'),('1271','Bowen syndrome','Disease','no definition available'),('1272','Aymé-Gripp syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum, and digital anomalies.'),('1275','Brachydactyly-elbow wrist dysplasia syndrome','Malformation syndrome','Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.'),('1276','Brachydactyly-arterial hypertension syndrome','Malformation syndrome','Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.'),('1277','Brachydactyly-mesomelia-intellectual disability-heart defects syndrome','Malformation syndrome','Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).'),('1278','Brachydactyly-preaxial hallux varus syndrome','Malformation syndrome','A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals.'),('128','Diphyllobothriasis','Disease','Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).'),('129','Pseudopelade of Brocq','Disease','Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.'),('1292','Brachymorphism-onychodysplasia-dysphalangism syndrome','Malformation syndrome','Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.'),('1293','Brachyolmia','Clinical group','Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.'),('1295','Brachytelephalangy-dysmorphism-Kallmann syndrome','Malformation syndrome','Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.'),('1296','Lambert syndrome','Malformation syndrome','Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.'),('1297','Branchio-oculo-facial syndrome','Malformation syndrome','Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears (`burn-like` lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.'),('1299','Branchioskeletogenital syndrome','Malformation syndrome','Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.'),('13','6-pyruvoyl-tetrahydropterin synthase deficiency','Clinical subtype','6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.'),('130','Brugada syndrome','Disease','Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.'),('1300','Autosomal dominant popliteal pterygium syndrome','Malformation syndrome','A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.'),('1301','Bronchiectasis-oligospermia syndrome','Disease','no definition available'),('1302','Cryptogenic organizing pneumonia','Disease','Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.'),('1303','Bronchiolitis obliterans with obstructive pulmonary disease','Disease','Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.'),('1304','Brucellosis','Disease','Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.'),('1305','Feingold syndrome','Malformation syndrome','Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.'),('1306','Buschke-Ollendorff syndrome','Malformation syndrome','Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones``) in the skeleton and connective tissue nevi in the skin.'),('1307','Distal limb deficiencies-micrognathia syndrome','Malformation syndrome','The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.'),('1308','C syndrome','Malformation syndrome','C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.'),('1309','Medullary sponge kidney','Morphological anomaly','no definition available'),('131','Budd-Chiari syndrome','Disease','Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.'),('1310','Caffey disease','Malformation syndrome','Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.'),('1313','Infantile choroidocerebral calcification syndrome','Disease','A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.'),('1314','Symmetrical thalamic calcifications','Disease','Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.'),('1317','CAMFAK syndrome','Disease','no definition available'),('1318','Campomelia, Cumming type','Malformation syndrome','Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.'),('1319','Camptobrachydactyly','Malformation syndrome','Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.'),('132','Butyrylcholinesterase deficiency','Disease','Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.'),('1320','Idiopathic camptocormia','Morphological anomaly','Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.'),('1321','Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome','Malformation syndrome','Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.'),('1323','Camptodactyly-joint contractures-facial skeletal defects syndrome','Malformation syndrome','Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).'),('1325','Camptodactyly-taurinuria syndrome','Malformation syndrome','Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.'),('1326','Camptodactyly syndrome, Guadalajara type 2','Malformation syndrome','Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.'),('1327','Camptodactyly syndrome, Guadalajara type 1','Malformation syndrome','Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.'),('1328','Camurati-Engelmann disease','Malformation syndrome','Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.'),('1329','Complete atrioventricular septal defect','Morphological anomaly','Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.'),('133','Chronic beryllium disease','Disease','A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.'),('1330','Partial atrioventricular septal defect','Morphological anomaly','A congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.'),('1331','Familial prostate cancer','Disease','Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.'),('1332','Medullary thyroid carcinoma','Disease','Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).'),('1333','Familial pancreatic carcinoma','Disease','Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.'),('1334','Chronic mucocutaneous candidiasis','Disease','Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.'),('1335','Pentalogy of Cantrell','Malformation syndrome','Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.'),('1336','Hyperkeratosis-hyperpigmentation syndrome','Disease','Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.'),('1338','Heart defect-tongue hamartoma-polysyndactyly syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.'),('1339','OBSOLETE: Cranioacrofacial syndrome','Malformation syndrome','no definition available'),('134','Beta-ketothiolase deficiency','Disease','A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.'),('1340','Cardiofaciocutaneous syndrome','Malformation syndrome','Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphism, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.'),('1342','Heart-hand syndrome type 3','Malformation syndrome','Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.'),('1344','Atrial standstill','Disease','A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.'),('1345','Cardiomyopathy-cataract-hip spine disease syndrome','Disease','Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.'),('1349','Mitochondrial DNA-related cardiomyopathy and hearing loss','Malformation syndrome','Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.'),('135','CACH syndrome','Disease','A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy`` aspect.'),('1350','Heart-hand syndrome type 2','Malformation syndrome','Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).'),('1352','Atrioventricular defect-blepharophimosis-radial and anal defect syndrome','Malformation syndrome','A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.'),('1354','Heart defects-limb shortening syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.'),('1355','Congenital heart defect-round face-developmental delay syndrome','Malformation syndrome','Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.'),('1358','Carey-Fineman-Ziter syndrome','Malformation syndrome','Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.'),('1359','Carney complex','Disease','Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.'),('136','Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy','Disease','CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.'),('1361','Carnosinase deficiency','Biological anomaly','Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.'),('1366','Autosomal recessive palmoplantar keratoderma and congenital alopecia','Disease','Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.'),('1368','Cataract-ataxia-deafness syndrome','Disease','Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.'),('1369','Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome','Disease','Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.'),('137','Congenital disorder of glycosylation','Category','A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.'),('1373','Cataract-aberrant oral frenula-growth delay syndrome','Malformation syndrome','Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.'),('1375','Cataract-hypertrichosis-intellectual disability syndrome','Malformation syndrome','Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.'),('137577','Neonatal hypoxic and ischemic brain injury','Particular clinical situation in a disease or syndrome','A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.'),('137583','Vulvar intraepithelial neoplasia','Disease','A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritis/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosis or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.'),('137586','OBSOLETE: Herpes simplex virus keratitis','Category','no definition available'),('137593','Infectious epithelial keratitis','Disease','Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.'),('137596','Neurotrophic keratopathy','Disease','Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.'),('137599','Herpes simplex virus stromal keratitis','Disease','Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.'),('1376','OBSOLETE: Congenital cataract-ichthyosis syndrome','Disease','no definition available'),('137602','Endotheliitis','Disease','no definition available'),('137605','Legius syndrome','Malformation syndrome','Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.'),('137608','Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome','Malformation syndrome','Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.'),('137617','Nephrogenic systemic fibrosis','Disease','Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.'),('137622','Intractable diarrhea-choanal atresia-eye anomalies syndrome','Malformation syndrome','Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.'),('137625','Glycogen storage disease due to muscle and heart glycogen synthase deficiency','Disease','Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.'),('137628','Cardiac anomalies-heterotaxy syndrome','Malformation syndrome','Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.'),('137631','Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome','Disease','Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.'),('137634','Overgrowth-macrocephaly-facial dysmorphism syndrome','Malformation syndrome','This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.'),('137639','Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome','Clinical subtype','no definition available'),('137653','Microcephaly-digital anomalies-intellectual disability syndrome','Malformation syndrome','no definition available'),('137658','Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome','Malformation syndrome','no definition available'),('137667','Capillary malformation-arteriovenous malformation','Malformation syndrome','This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.'),('137672','Pellucid marginal degeneration','Disease','no definition available'),('137675','Histiocytoid cardiomyopathy','Disease','A rare arrhythmogenic disorder characterized by cardiomymegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.'),('137678','Czech dysplasia, metatarsal type','Disease','A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.'),('137681','Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1','Disease','Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.'),('137686','Asherman syndrome','Disease','A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss).'),('137698','Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk','Particular clinical situation in a disease or syndrome','no definition available'),('1377','Cataract-microcornea syndrome','Malformation syndrome','Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.'),('137754','Neurological conditions associated with aminoacylase 1 deficiency','Disease','An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.'),('137776','Lethal congenital contracture syndrome type 2','Malformation syndrome','Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.'),('137783','Lethal congenital contracture syndrome type 3','Malformation syndrome','Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.'),('137807','Primary cutaneous amyloidosis','Clinical group','Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms).'),('137810','Nodular cutaneous amyloidosis','Disease','Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms).'),('137814','Macular amyloidosis','Disease','Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.'),('137817','Arachnoiditis','Disease','A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.'),('137820','Extrapelvic endometriosis','Disease','Rare endometriosis is a rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.'),('137831','X-linked intellectual disability-cerebellar hypoplasia syndrome','Disease','X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.'),('137834','Frank-Ter Haar syndrome','Disease','A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.'),('137839','Lemierre syndrome','Disease','Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.'),('137862','Martínez-Frías syndrome','Malformation syndrome','no definition available'),('137867','Madras motor neuron disease','Disease','Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.'),('137871','OBSOLETE: Laminopathy type Decaudain-Vigouroux','Disease','no definition available'),('137888','Auriculocondylar syndrome','Malformation syndrome','A rare disorder that presents with bilateral external ear malformations (`question mark` ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.'),('137893','Male infertility due to large-headed multiflagellar polyploid spermatozoa','Clinical subtype','Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).'),('137898','Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome','Disease','This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.'),('137902','Isolated optic nerve hypoplasia/aplasia','Morphological anomaly','A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.'),('137905','Syndromic optic nerve hypoplasia','Category','no definition available'),('137908','Hypotonia with lactic acidemia and hyperammonemia','Disease','This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.'),('137911','Autism-facial port-wine stain syndrome','Malformation syndrome','This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.'),('137914','Choanal atresia','Morphological anomaly','Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.'),('137917','Choanal atresia, unilateral','Clinical subtype','Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.'),('137920','Choanal atresia, bilateral','Clinical subtype','Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.'),('137923','OBSOLETE: Cervicofacial lymphatic malformation','Malformation syndrome','no definition available'),('137926','Primary laryngeal lymphangioma','Malformation syndrome','Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.'),('137929','Neonatal brainstem dysfunction','Disease','Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.'),('137932','Congenital laryngeal palsy','Malformation syndrome','Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.'),('137935','Laryngotracheal angioma','Disease','no definition available'),('138','CHARGE syndrome','Malformation syndrome','CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C`s).'),('1380','Cataract-nephropathy-encephalopathy syndrome','Malformation syndrome','Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.'),('138041','Pierre Robin syndrome associated with collagen disease','Category','no definition available'),('138044','Rare disease with Pierre Robin syndrome','Category','no definition available'),('138047','Pierre Robin syndrome associated with a chromosomal anomaly','Category','no definition available'),('138050','Pierre Robin syndrome associated with branchial archs anomalies','Category','no definition available'),('138055','Pierre Robin syndrome associated with bone disease','Category','no definition available'),('138059','Teratogenic Pierre Robin syndrome','Category','no definition available'),('138063','OBSOLETE: Syndrome associated with Pierre Robin syndrome','Clinical group','no definition available'),('138066','OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies','Clinical group','no definition available'),('138069','Sucking/swallowing disorder not related with Pierre Robin syndrome','Category','no definition available'),('138072','Sucking/swallowing disorder associated with an identified syndrome','Category','no definition available'),('138076','Sucking/swallowing disorder associated to a chromosomal anomaly','Category','no definition available'),('138080','Syndromic sucking/swallowing disorder with unidentifyed syndrome','Category','no definition available'),('138084','Sucking/swallowing disorder associated to cervicofacial or esophageal malformation','Category','no definition available'),('138095','Sucking/swallowing disorder associated with neurologic anomalies','Category','no definition available'),('1381','Cataract-intellectual disability-anal atresia-urinary defects syndrome','Malformation syndrome','Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.'),('138101','Sucking/swallowing disorder associated with suprabulbar anomalies','Category','no definition available'),('138104','Sucking/swallowing disorder associated with basal ganglia anomalies','Category','no definition available'),('138109','Sucking/swallowing disorder associated with posterior fossa anomalies','Category','no definition available'),('138112','Sucking/swallowing disorder associated with cerebellar anomalies','Category','no definition available'),('138115','Sucking/swallowing disorder associated with a neuromuscular disease','Category','no definition available'),('138118','OBSOLETE: Acquired alimentary behavior disorder of infancy','Clinical group','no definition available'),('138221','Rare sucking/swallowing disorder','Category','no definition available'),('1383','Cataract-deafness-hypogonadism syndrome','Malformation syndrome','Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.'),('1387','Cataract-intellectual disability-hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.'),('1388','Catel-Manzke syndrome','Malformation syndrome','Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.'),('1389','Cortical blindness-intellectual disability-polydactyly syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.'),('139','CHILD syndrome','Disease','CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.'),('1390','Night blindness-skeletal anomalies-dysmorphism syndrome','Malformation syndrome','This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).'),('139006','OBSOLETE: Sequence or association','Clinical group','no definition available'),('139009','Developmental anomaly of metabolic origin','Category','no definition available'),('139012','Rare bone development disorder','Category','no definition available'),('139015','OBSOLETE: Chondrodysplastic malformation syndrome','Clinical group','no definition available'),('139018','OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones','Clinical group','no definition available'),('139021','Malformation syndrome with short stature','Category','no definition available'),('139024','Overgrowth/obesity syndrome','Category','no definition available'),('139027','Rare developmental defect with skin/mucosae involvement','Category','no definition available'),('139030','Rare developmental defect with connective tissue involvement','Category','no definition available'),('139033','Progeroid syndrome','Category','no definition available'),('139036','Branchial arch or oral-acral syndrome','Category','no definition available'),('139039','Orofacial clefting syndrome','Category','no definition available'),('139042','Malformation syndrome with odontal and/or periodontal component','Category','no definition available'),('1393','Cerebrocostomandibular syndrome','Malformation syndrome','Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.'),('139373','OBSOLETE: Recessive hereditary methemoglobinemia type 1','Clinical subtype','no definition available'),('139380','OBSOLETE: Recessive hereditary methemoglobinemia type 2','Clinical subtype','no definition available'),('139390','Isolated craniosynostosis','Clinical group','no definition available'),('139393','Syndromic craniosynostosis','Category','no definition available'),('139396','X-linked cerebral adrenoleukodystrophy','Clinical subtype','A subtype of X-linked adrenoleukodystrophy (X-ALD), a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.'),('139399','Adrenomyeloneuropathy','Clinical subtype','An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.'),('1394','Cerebrofaciothoracic dysplasia','Malformation syndrome','Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.'),('139402','Drug rash with eosinophilia and systemic symptoms','Disease','A rare hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.'),('139406','Encephalopathy due to prosaposin deficiency','Disease','A lysosomal storage disease belonging to the group of sphingolipidoses.'),('139411','Carney triad','Disease','A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.'),('139414','Congenital panfollicular nevus','Disease','Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.'),('139417','Acute transverse myelitis','Disease','A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).'),('139420','Secondary acute transverse myelitis','Clinical subtype','A rare disorder characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.'),('139423','Idiopathic acute transverse myelitis','Clinical subtype','A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.'),('139426','Perioral myoclonia with absences','Disease','A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.'),('139431','Jeavons syndrome','Disease','A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.'),('139436','Multicentric reticulohistiocytosis','Disease','A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.'),('139441','Hypomyelination with atrophy of basal ganglia and cerebellum','Disease','A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.'),('139444','Leukoencephalopathy with bilateral anterior temporal lobe cysts','Disease','A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.'),('139447','Progressive cavitating leukoencephalopathy','Disease','A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.'),('139450','Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome','Malformation syndrome','This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.'),('139455','Autosomal recessive bestrophinopathy','Disease','A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).'),('139466','SERKAL syndrome','Malformation syndrome','SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.'),('139471','Microphthalmia with brain and digit anomalies','Malformation syndrome','Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.'),('139474','17q11.2 microduplication syndrome','Malformation syndrome','17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.'),('139477','Al-Gazali-Dattani syndrome','Malformation syndrome','no definition available'),('139480','Autosomal recessive spastic paraplegia type 39','Disease','This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.'),('139485','Autosomal recessive ataxia due to ubiquinone deficiency','Disease','This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.'),('139491','Hemochromatosis type 4','Disease','Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.'),('139498','NON RARE IN EUROPE: Hemochromatosis type 1','Disease','no definition available'),('139507','African iron overload','Disease','A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.'),('139512','Neuropathy with hearing impairment','Disease','This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.'),('139515','Charcot-Marie-Tooth disease type 4J','Disease','Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.'),('139518','Distal hereditary motor neuropathy type 1','Disease','Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.'),('139525','Distal hereditary motor neuropathy type 2','Disease','no definition available'),('139536','Distal hereditary motor neuropathy type 5','Disease','no definition available'),('139547','Distal spinal muscular atrophy type 3','Disease','Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.'),('139552','Distal hereditary motor neuropathy, Jerash type','Disease','A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).'),('139557','X-linked distal spinal muscular atrophy type 3','Disease','X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.'),('139564','Hereditary sensory and autonomic neuropathy type 1B','Disease','Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).'),('139573','Hereditary sensory and autonomic neuropathy with deafness and global delay','Disease','This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.'),('139578','Mutilating hereditary sensory neuropathy with spastic paraplegia','Disease','This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.'),('139583','X-linked hereditary sensory and autonomic neuropathy with deafness','Disease','This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.'),('139589','Distal hereditary motor neuropathy type 7','Disease','A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.'),('1396','OBSOLETE: Cerebrorenodigital syndrome','Malformation syndrome','no definition available'),('1397','Hydrocephaly-cerebellar agenesis syndrome','Malformation syndrome','A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973.'),('1398','Isolated cerebellar agenesis','Morphological anomaly','A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.'),('1399','Richards-Rundle syndrome','Malformation syndrome','Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.'),('14','Abetalipoproteinemia','Disease','A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.'),('140','Campomelic dysplasia','Malformation syndrome','Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).'),('1401','CHAND syndrome','Malformation syndrome','no definition available'),('140162','Inherited cancer-predisposing syndrome','Category','no definition available'),('140286','Secondary hypoparathyroidism due to impaired parathormon secretion','Disease','no definition available'),('140428','OBSOLETE: Hereditary iron overload with neurologic manifestation','Category','no definition available'),('140432','OBSOLETE: Hereditary iron overload with anemia','Category','no definition available'),('140436','Primary intraosseous venous malformation','Disease','Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.'),('140450','OBSOLETE: Hereditary motor and sensory neuropathy','Category','no definition available'),('140453','Autosomal dominant hereditary demyelinating motor and sensory neuropathy','Category','no definition available'),('140456','Autosomal dominant hereditary axonal motor and sensory neuropathy','Category','no definition available'),('140459','Autosomal recessive hereditary demyelinating motor and sensory neuropathy','Category','no definition available'),('140462','OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy','Category','no definition available'),('140465','Autosomal dominant distal hereditary motor neuropathy','Category','no definition available'),('140468','Autosomal recessive distal hereditary motor neuropathy','Category','no definition available'),('140471','Hereditary sensory and autonomic neuropathy','Clinical group','no definition available'),('140474','Autosomal dominant hereditary sensory and autonomic neuropathy','Category','no definition available'),('140477','Autosomal recessive hereditary sensory and autonomic neuropathy','Category','no definition available'),('140481','Autosomal dominant slowed nerve conduction velocity','Disease','A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.'),('140500','OBSOLETE: Neurological channelopathy','Category','no definition available'),('140503','OBSOLETE: Channelopathy','Category','no definition available'),('1406','Charlie M syndrome','Malformation syndrome','Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.'),('140653','Neuro-ophthalmological disease','Category','no definition available'),('1408','Hair defect-photosensitivity-intellectual disability syndrome','Malformation syndrome','no definition available'),('140874','Joubert syndrome and related disorders','Category','Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign`` (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.'),('140896','Severe acute respiratory syndrome','Disease','A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).'),('1409','Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome','Malformation syndrome','no definition available'),('140905','Hyperlipidemia due to hepatic triacylglycerol lipase deficiency','Disease','Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.'),('140908','Brachydactyly type B2','Clinical subtype','A rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.'),('140917','Stapes ankylosis with broad thumbs and toes','Malformation syndrome','Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.'),('140922','Titin-related limb-girdle muscular dystrophy R10','Disease','A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.'),('140927','Benign familial neonatal-infantile seizures','Disease','Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.'),('140933','Linear atrophoderma of Moulin','Disease','Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.'),('140936','Lelis syndrome','Malformation syndrome','Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.'),('140941','Short stature due to primary acid-labile subunit deficiency','Disease','Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.'),('140944','CLOVES syndrome','Malformation syndrome','CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.'),('140949','Low-flow priapism','Particular clinical situation in a disease or syndrome','no definition available'),('140952','Syndactyly-telecanthus-anogenital and renal malformations syndrome','Malformation syndrome','This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.'),('140957','Autosomal dominant macrothrombocytopenia','Disease','This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.'),('140963','Bilateral microtia-deafness-cleft palate syndrome','Malformation syndrome','This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.'),('140966','Palmoplantar keratoderma, Nagashima type','Disease','Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term).'),('140969','Saldino-Mainzer syndrome','Disease','Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.'),('140976','RHYNS syndrome','Disease','RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.'),('140989','Primary angiitis of the central nervous system','Disease','A rare neurologic disease characterized by focal and diffuse neurologic symptoms due to vasculitis of the intracerebral blood vessels. Most common manifestations are insidiously progressive headaches and cognitive impairment, in addition to stroke and transient ischemic attacks, seizures, aphasia, and visual field deficits, among others. Signs of vasculitis outside the central nervous system are rare, serologic markers of inflammation are typically normal. Cerebrospinal fluid analysis may reveal elevations in total protein level and cell count.'),('140997','Orofaciodigital syndrome','Clinical group','no definition available'),('141','Canavan disease','Disease','Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.'),('1410','Uncombable hair syndrome','Disease','Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.'),('141000','Orofaciodigital syndrome type 11','Malformation syndrome','Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.'),('141007','Orofaciodigital syndrome type 9','Malformation syndrome','Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).'),('141013','First branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.'),('141022','Second branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae ans sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.'),('141030','Third branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia,and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.'),('141037','Fourth branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.'),('141046','Cervical dermoid cyst','Morphological anomaly','Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.'),('141051','Facial dermoid cyst','Morphological anomaly','Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.'),('141061','Commissural lip fistula','Morphological anomaly','no definition available'),('141064','Lower lip fistula','Morphological anomaly','no definition available'),('141067','Cervicofacial fibrochondroma','Morphological anomaly','A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described.'),('141071','Digestive duplication cyst of the tongue','Morphological anomaly','Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.'),('141074','External auditory canal aplasia/hypoplasia','Morphological anomaly','A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.'),('141077','Epignathus','Clinical subtype','Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.'),('141083','Nasolacrimal duct cyst','Morphological anomaly','Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.'),('141091','Polyrrhinia','Malformation syndrome','Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.'),('141096','Supernumerary nostril','Malformation syndrome','Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.'),('141099','Proboscis lateralis','Malformation syndrome','Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).'),('141103','Nasal dermoid cyst','Morphological anomaly','A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess.'),('141107','Nasopharyngeal teratoma','Clinical subtype','no definition available'),('141112','Nasal glial heterotopia','Disease','Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.'),('141115','Nasal ganglioglioma','Clinical subtype','Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.'),('141118','Nasal encephalocele','Clinical subtype','Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.'),('141121','Congenital subglottic stenosis','Malformation syndrome','A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.'),('141124','Congenital laryngeal cyst','Morphological anomaly','Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.'),('141127','Congenital tracheal stenosis','Morphological anomaly','A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.'),('141132','Oculo-auriculo-vertebral spectrum','Malformation syndrome','A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.'),('141136','Otomandibular syndrome','Malformation syndrome','no definition available'),('141145','Hemifacial hyperplasia','Malformation syndrome','Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.'),('141148','Hemifacial myohyperplasia','Malformation syndrome','Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.'),('141152','Isolated congenital hypoglossia/aglossia','Morphological anomaly','Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).'),('141163','Glossopalatine ankylosis','Malformation syndrome','Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.'),('141168','Frontonasal arteriovenous malformation','Malformation syndrome','Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.'),('141171','Maxillary arteriovenous malformation','Malformation syndrome','Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.'),('141174','Mandibular arteriovenous malformation','Malformation syndrome','Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.'),('141179','Non-involuting congenital hemangioma','Disease','Non-involuting congenital hemangiomas (NICH) are a distinctive type of large congenital hemangioma that are fully formed in utero and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase.'),('141184','Rapidly involuting congenital hemangioma','Disease','Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution.'),('141189','Cerebrofacial arteriovenous metameric syndrome','Clinical group','A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible.'),('141194','Cerebrofacial arteriovenous metameric syndrome type 1','Malformation syndrome','A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.'),('141199','Cerebrofacial arteriovenous metameric syndrome type 3','Malformation syndrome','A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.'),('1412','Tarsal-carpal coalition syndrome','Malformation syndrome','Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.'),('141209','Diffuse lymphatic malformation','Malformation syndrome','A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.'),('141214','Isolated congenital syngnathia','Malformation syndrome','Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.'),('141219','Nasal dorsum fistula','Morphological anomaly','A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.'),('141229','Facial cleft','Category','no definition available'),('141234','Median facial cleft','Clinical group','no definition available'),('141239','Median cleft of the upper lip and maxilla','Morphological anomaly','Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.'),('141242','Paramedian nasal cleft','Morphological anomaly','Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.'),('141253','Oblique facial cleft','Clinical group','no definition available'),('141258','Tessier number 4 facial cleft','Morphological anomaly','A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid`s bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.'),('141261','Tessier number 5 facial cleft','Morphological anomaly','no definition available'),('141265','Tessier number 6 facial cleft','Morphological anomaly','no definition available'),('141269','Lateral facial cleft','Clinical group','no definition available'),('141276','Tessier number 7 facial cleft','Morphological anomaly','no definition available'),('141288','Midline cervical cleft','Morphological anomaly','Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.'),('141291','Cleft lip and alveolus','Morphological anomaly','Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.'),('141327','Orofaciodigital syndrome type 12','Malformation syndrome','Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.'),('141330','Orofaciodigital syndrome type 13','Malformation syndrome','Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.'),('141333','Biemond syndrome type 2','Disease','Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.'),('1414','Cholestasis-lymphedema syndrome','Disease','Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.'),('1415','Cholestasis-pigmentary retinopathy-cleft palate syndrome','Malformation syndrome','Cholestasis-pigmentary retinopathy-cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat`s paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.'),('1416','Familial calcium pyrophosphate deposition','Disease','Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).'),('1417','OBSOLETE: Platyspondylic lethal chondrodysplasia','Malformation syndrome','no definition available'),('142','Anaplastic thyroid carcinoma','Disease','A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.'),('1420','OBSOLETE: Lethal chondrodysplasia, Moerman type','Malformation syndrome','no definition available'),('1421','OBSOLETE: Lethal chondrodysplasia, Seller type','Malformation syndrome','no definition available'),('1422','Chondrodysplasia-disorder of sex development syndrome','Malformation syndrome','Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.'),('1423','Lethal recessive chondrodysplasia','Malformation syndrome','Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.'),('1425','Desbuquois syndrome','Malformation syndrome','Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.'),('1426','Greenberg dysplasia','Disease','Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.'),('1427','Otospondylomegaepiphyseal dysplasia','Disease','Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.'),('1428','Familial chondromalacia patellae','Disease','Familial chondromalacia patellae is an extremely rare, inherited patellar dysostosis disorder characterized by chondromalacia of the patella associated with patellar pain and dislocation (distal displacement) upon knee extension. Male-to-male transmission is reported. There have been no further descriptions in the literature since 1963.'),('1429','Benign hereditary chorea','Disease','A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.'),('143','Parathyroid carcinoma','Disease','Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.'),('1431','Paroxysmal dyskinesia','Clinical group','Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).'),('1432','Autosomal dominant chorioretinopathy-microcephaly syndrome','Malformation syndrome','no definition available'),('1433','Choroidal atrophy-alopecia syndrome','Malformation syndrome','Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.'),('1434','OBSOLETE: Choroideremia-hypopituitarism syndrome','Disease','no definition available'),('1435','Xq21 microdeletion syndrome','Malformation syndrome','Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.'),('1436','X-linked skeletal dysplasia-intellectual disability syndrome','Malformation syndrome','A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.'),('1437','Ring chromosome 1 syndrome','Malformation syndrome','Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.'),('1438','Ring chromosome 10 syndrome','Malformation syndrome','An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.'),('1439','Ring chromosome 12 syndrome','Malformation syndrome','Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.'),('144','Lynch syndrome','Disease','no definition available'),('1440','Ring chromosome 14 syndrome','Malformation syndrome','Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.'),('1441','Ring chromosome 17 syndrome','Malformation syndrome','Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.'),('1442','Ring chromosome 18 syndrome','Malformation syndrome','Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.'),('1443','Ring chromosome 19 syndrome','Malformation syndrome','Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.'),('1444','Ring chromosome 20 syndrome','Malformation syndrome','Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.'),('1445','Ring chromosome 21 syndrome','Malformation syndrome','Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.'),('1446','Ring chromosome 22 syndrome','Malformation syndrome','Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.'),('1447','Ring chromosome 4 syndrome','Malformation syndrome','Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.'),('1448','Ring chromosome 6 syndrome','Malformation syndrome','Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.'),('1449','Ring chromosome 7 syndrome','Malformation syndrome','Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).'),('145','Hereditary breast and ovarian cancer syndrome','Disease','Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.'),('1450','Ring chromosome 8 syndrome','Malformation syndrome','Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).'),('1451','CINCA syndrome','Disease','A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).'),('1452','Cleidocranial dysplasia','Malformation syndrome','Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.'),('1453','Cleidorhizomelic syndrome','Malformation syndrome','Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.'),('1454','Joubert syndrome with hepatic defect','Disease','Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).'),('1455','Autosomal dominant coarctation of aorta','Clinical subtype','A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation.'),('1456','Atypical coarctation of aorta','Clinical subtype','Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).'),('1457','Aorta coarctation','Morphological anomaly','no definition available'),('1458','CODAS syndrome','Malformation syndrome','Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.'),('1459','Celiac disease-epilepsy-cerebral calcification syndrome','Disease','Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.'),('146','Differentiated thyroid carcinoma','Disease','A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).'),('1460','Isolated complex III deficiency','Disease','Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).'),('1461','Criss-cross heart','Morphological anomaly','Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.'),('1463','Triatrial heart','Clinical group','no definition available'),('1464','Univentricular heart','Morphological anomaly','Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.'),('1465','Coffin-Siris syndrome','Malformation syndrome','A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.'),('1466','COFS syndrome','Clinical subtype','Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.'),('1467','Cogan syndrome','Disease','A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.'),('147','Carbamoyl-phosphate synthetase 1 deficiency','Disease','A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.'),('1471','Coloboma of macula-brachydactyly type B syndrome','Malformation syndrome','Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.'),('1473','Uveal coloboma-cleft lip and palate-intellectual disability','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.'),('1474','Colobomatous-microphthalmia-heart disease-hearing loss syndrome','Malformation syndrome','no definition available'),('1475','Renal coloboma syndrome','Malformation syndrome','A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.'),('1478','Interatrial communication','Morphological anomaly','Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.'),('1479','Atrial septal defect-atrioventricular conduction defects syndrome','Malformation syndrome','An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.'),('148','Multiple carboxylase deficiency','Clinical group','Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.'),('1480','NON RARE IN EUROPE: Ventricular septal defect','Morphological anomaly','no definition available'),('1482','Gonococcal conjunctivitis','Disease','A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.'),('1484','Contractures-ectodermal dysplasia-cleft lip/palate syndrome','Malformation syndrome','Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.'),('1485','Arthrogryposis-hyperkeratosis syndrome, lethal form','Malformation syndrome','A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.'),('1486','Lethal congenital contracture syndrome type 1','Malformation syndrome','Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.'),('1487','Cooks syndrome','Malformation syndrome','Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.'),('1488','Cooper-Jabs syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.'),('1489','Whooping cough','Disease','A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with Bordetella pertussis. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.'),('1490','Corneal dystrophy-perceptive deafness syndrome','Malformation syndrome','Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.'),('1492','OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome','Malformation syndrome','no definition available'),('1493','Vici syndrome','Malformation syndrome','Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.'),('1495','Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome','Malformation syndrome','Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.'),('1496','Corpus callosum agenesis-neuronopathy syndrome','Disease','Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and `autistic-like` features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.'),('1497','X-linked complicated corpus callosum dysgenesis','Clinical subtype','X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.'),('1499','OBSOLETE: Cortada-Koussef-Matsumoto syndrome','Malformation syndrome','no definition available'),('15','Achondroplasia','Disease','A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.'),('150','Nasopharyngeal carcinoma','Disease','Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.'),('1501','Adrenocortical carcinoma','Disease','A rare cancer that arises from the adrenal cortex.'),('1505','Short rib-polydactyly syndrome','Clinical group','A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).'),('1506','Thin ribs-tubular bones-dysmorphism syndrome','Malformation syndrome','An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.'),('1507','Autosomal recessive Robinow syndrome','Clinical subtype','Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.'),('1508','Coxoauricular syndrome','Malformation syndrome','Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.'),('1509','Coxopodopatellar syndrome','Disease','Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.'),('151','OBSOLETE: Familial renal cell carcinoma','Clinical group','no definition available'),('1512','Crane-Heise syndrome','Malformation syndrome','Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.'),('1513','Craniodiaphyseal dysplasia','Malformation syndrome','Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.'),('1514','Craniodigital-intellectual disability syndrome','Malformation syndrome','Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled` facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.'),('1515','Cranioectodermal dysplasia','Malformation syndrome','Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).'),('1516','Craniofacial dyssynostosis','Malformation syndrome','Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.'),('1517','Hypertrichotic osteochondrodysplasia, Cantu type','Malformation syndrome','Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.'),('1519','Hypertelorism, Teebi type','Malformation syndrome','Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow`s peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).'),('1520','Craniofrontonasal dysplasia','Malformation syndrome','Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.'),('1521','Craniofrontonasal dysplasia-Poland anomaly syndrome','Malformation syndrome','Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.'),('1522','Craniometaphyseal dysplasia','Malformation syndrome','Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.'),('1524','Craniomicromelic syndrome','Malformation syndrome','Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.'),('1525','Cranio-osteoarthropathy','Malformation syndrome','Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.'),('1526','OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome','Malformation syndrome','no definition available'),('1527','Craniosynostosis, Philadelphia type','Malformation syndrome','Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.'),('1528','Craniotelencephalic dysplasia','Malformation syndrome','Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.'),('1529','Craniofacial-deafness-hand syndrome','Malformation syndrome','Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ``pursed`` mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.'),('1530','OBSOLETE: Craniosynostosis-cataract syndrome','Malformation syndrome','no definition available'),('1531','Craniosynostosis','Category','Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.'),('1532','Gómez-López-Hernández syndrome','Malformation syndrome','Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.'),('1533','Craniosynostosis-fibular aplasia syndrome','Malformation syndrome','Craniosynostosis-fibular aplasia syndrome is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.'),('1534','OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type','Malformation syndrome','no definition available'),('1535','Craniosynostosis-dysmorphism-brachydactyly syndrome','Malformation syndrome','no definition available'),('1538','Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome','Malformation syndrome','Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.'),('154','Familial isolated dilated cardiomyopathy','Disease','Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.'),('1540','Jackson-Weiss syndrome','Malformation syndrome','Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.'),('1541','Craniosynostosis, Boston type','Malformation syndrome','Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.'),('1544','Benign focal seizures of adolescence','Disease','A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.'),('1545','Crisponi syndrome','Malformation syndrome','Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.'),('1546','Cryptococcosis','Disease','A cosmopolitan fungal infection due to Cryptococcus neoformans.'),('1547','Cryptomicrotia-brachydactyly-excess fingertip arch syndrome','Malformation syndrome','Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.'),('1548','Cryptorchidism-arachnodactyly-intellectual disability syndrome','Malformation syndrome','Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.'),('1549','Cryptosporidiosis','Disease','Cryptosporidiosis is a protozoan disease caused by small coccidia, e.g. Cryptosporidium spp, that colonize the intestinal epithelial cells of humans and of a wide variety of animals.'),('155','NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy','Disease','no definition available'),('1551','Familial benign copper deficiency','Disease','Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.'),('1552','Currarino syndrome','Malformation syndrome','Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).'),('1553','Curry-Jones syndrome','Malformation syndrome','Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.'),('1555','Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome','Malformation syndrome','Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.'),('1556','Cutis marmorata telangiectatica congenita','Malformation syndrome','Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.'),('1557','Cutis verticis gyrata-intellectual disability syndrome','Malformation syndrome','no definition available'),('155832','Rare head and neck malformation','Category','no definition available'),('155835','Cysts and fistulae of the face and oral cavity','Category','no definition available'),('155838','Pinnae fistula or cyst','Morphological anomaly','Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.'),('155867','Paramedian facial cleft','Clinical group','no definition available'),('155878','Submucosal cleft palate','Morphological anomaly','no definition available'),('155884','Coloboma of superior eyelid','Morphological anomaly','Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.'),('155889','Coloboma of inferior eyelid','Morphological anomaly','Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.'),('155896','Otomandibular dysplasia','Category','no definition available'),('155899','Mandibulofacial dysostosis','Clinical group','no definition available'),('156','Carnitine palmitoyl transferase 1A deficiency','Disease','Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.'),('1560','Cysticercosis','Disease','Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.'),('156005','Primary early-onset glaucoma','Clinical group','no definition available'),('156071','OBSOLETE: Keratoconus','Category','no definition available'),('1561','Fatal infantile cytochrome C oxidase deficiency','Disease','Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.'),('156140','Predominantly large-vessel vasculitis','Clinical group','no definition available'),('156143','Predominantly medium-vessel vasculitis','Clinical group','no definition available'),('156146','Predominantly small-vessel vasculitis','Clinical group','no definition available'),('156149','Immune complex mediated vasculitis','Category','no definition available'),('156152','Anti-neutrophil cytoplasmic antibody-associated vasculitis','Clinical group','no definition available'),('156156','Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy','Disease','no definition available'),('156159','Isolated dystonia','Category','no definition available'),('156162','Nephropathy-associated ciliopathy','Category','no definition available'),('156165','Retinal ciliopathy','Category','no definition available'),('156168','Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene','Category','no definition available'),('156171','Retinal ciliopathy due to mutation in the RPGR gene','Category','no definition available'),('156174','Retinal ciliopathy due to mutation in the RPGRIP gene','Category','no definition available'),('156177','Retinal ciliopathy due to mutation in Usher gene','Category','no definition available'),('156180','Retinal ciliopathy due to mutation in nephronophthisis gene','Category','no definition available'),('156183','Retinal ciliopathy due to mutation in Bardet-Biedl gene','Category','no definition available'),('1562','Dacryocystitis-osteopoikilosis syndrome','Malformation syndrome','Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).'),('156202','Otomandibular dysplasia associated with monogenic syndromes','Category','no definition available'),('156207','Macroglossia','Category','no definition available'),('156212','Hypoglossia/aglossia','Category','no definition available'),('156215','Oromandibular-limb anomalies syndrome','Category','no definition available'),('156224','Paralytic facial malformation','Category','no definition available'),('156230','Facial arteriovenous malformation','Clinical group','Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.'),('156237','Syndrome or malformation associated with head and neck malformations','Category','no definition available'),('156243','Pinnae and external auditory canal anomaly','Category','no definition available'),('156246','Nose and cavum anomaly','Category','no definition available'),('156249','Larynx anomaly','Category','no definition available'),('156252','Tracheal anomaly','Category','no definition available'),('1563','Dahlberg-Borer-Newcomer syndrome','Malformation syndrome','Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.'),('1564','Dandy-Walker malformation-facial hemangioma syndrome','Malformation syndrome','no definition available'),('156532','Rare syndrome with cardiac malformations','Category','no definition available'),('1566','Dandy-Walker malformation-postaxial polydactyly syndrome','Malformation syndrome','Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.'),('156601','Rare genetic hepatic disease','Category','no definition available'),('156604','Genetic parenchymatous liver disease','Category','no definition available'),('156607','Genetic biliary tract disease','Category','no definition available'),('156610','Rare genetic respiratory disease','Category','no definition available'),('156619','Rare genetic urogenital disease','Category','no definition available'),('156622','Genetic urogenital tract malformation','Category','no definition available'),('156629','Rare genetic cause of hypertension','Category','no definition available'),('156638','Rare genetic endocrine disease','Category','no definition available'),('156643','Genetic endocrine growth disease','Category','no definition available'),('156723','Piepkorn dysplasia','Disease','no definition available'),('156728','Spondyloepimetaphyseal dysplasia, matrilin-3 type','Disease','Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.'),('156731','Dyssegmental dysplasia, Rolland-Desbuquois type','Disease','no definition available'),('1568','X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome','Malformation syndrome','X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.'),('1569','De Sanctis-Cacchione syndrome','Disease','no definition available'),('157','Carnitine palmitoyltransferase II deficiency','Disease','Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).'),('1570','Symbrachydactyly of hands and feet','Malformation syndrome','Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.'),('1571','Knobloch syndrome','Malformation syndrome','A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.'),('1572','Common variable immunodeficiency','Disease','Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.'),('157215','Hereditary hypophosphatemic rickets with hypercalciuria','Disease','Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.'),('1573','Hypotrichosis with juvenile macular degeneration','Malformation syndrome','Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.'),('1574','Retinal degeneration-nanophthalmos-glaucoma syndrome','Malformation syndrome','Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.'),('1575','OBSOLETE: Infantile striatothalamic degeneration','Disease','no definition available'),('1576','Infantile bilateral striatal necrosis','Clinical group','Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).'),('1577','OBSOLETE: Infantile thalamic degeneration','Disease','no definition available'),('157713','Congenital or early infantile CACH syndrome','Clinical subtype','no definition available'),('157716','Late infantile CACH syndrome','Clinical subtype','no definition available'),('157719','Juvenile or adult CACH syndrome','Clinical subtype','no definition available'),('157769','Situs ambiguus','Morphological anomaly','A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.'),('157788','Hypospadias-hypertelorism-coloboma and deafness syndrome','Malformation syndrome','no definition available'),('157791','Epithelioid hemangioendothelioma','Disease','A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.'),('157794','Hereditary mixed polyposis syndrome','Disease','Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.'),('157798','Hyperplastic polyposis syndrome','Disease','Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.'),('1578','Pterin-4 alpha-carbinolamine dehydratase deficiency','Clinical subtype','Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.'),('157801','Mesoaxial synostotic syndactyly with phalangeal reduction','Morphological anomaly','Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.'),('157808','Congenital pseudoarthrosis of the limbs','Morphological anomaly','Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.'),('157820','Cold-induced sweating syndrome','Disease','Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.'),('157823','Klüver-Bucy syndrome','Clinical syndrome','A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.'),('157826','Congenital epulis','Disease','A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.'),('157832','Craniorhiny','Malformation syndrome','A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmertical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.'),('157835','Paroxysmal hemicrania','Disease','A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.'),('157843','Trigeminal autonomic cephalalgia','Clinical group','no definition available'),('157846','Neuroferritinopathy','Disease','Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.'),('157850','Pantothenate kinase-associated neurodegeneration','Disease','Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.'),('157855','HARP syndrome','Clinical subtype','no definition available'),('157938','OBSOLETE: Joker disease','Disease','no definition available'),('157941','Huntington disease-like 1','Disease','A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.'),('157946','Huntington disease-like 3','Disease','Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.'),('157949','Combined immunodeficiency with granulomatosis','Disease','A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.'),('157954','ANE syndrome','Disease','A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.'),('157962','Oculoauricular syndrome, Schorderet type','Malformation syndrome','Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).'),('157965','SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome','Clinical subtype','A rare subtype of spondylodysplastic Ehlers-Danlos syndrome (EDS) characterized by the presence of classic cutaneous features of EDS (i.e. hyperextensible, soft, doughy, thin translucent skin with atrophic scarring) associated with short stature (progressive in childhood), protuberant eyes with bluish sclerae, excessively wrinkled palms, hypotrophic thenar muscles, tapering fingers, and hypermobile distal joints with tendency to contractures, due to mutations in the SLC39A13 gene. Characteristic radiological findings include platyspondyly, osteopenia (predominantly in the vertebrae), widened metaphyses (elbow, wrist, interphalanges), flat epiphyses (femoral neck and short tubular bones), and small broad ilea.'),('157973','Congenital muscular dystrophy due to LMNA mutation','Disease','Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.'),('157980','NON RARE IN EUROPE: Bladder cancer','Disease','no definition available'),('157987','Non-Langerhans cell histiocytosis','Clinical group','no definition available'),('157991','Generalized eruptive histiocytosis','Disease','no definition available'),('157997','Benign cephalic histiocytosis','Disease','A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.'),('158','Systemic primary carnitine deficiency','Disease','A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.'),('1580','Distal monosomy 10p','Malformation syndrome','Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.'),('158000','Juvenile xanthogranuloma','Disease','Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.'),('158003','Xanthoma disseminatum','Disease','A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.'),('158008','Papular xanthoma','Disease','Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.'),('158011','Necrobiotic xanthogranuloma','Disease','Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.'),('158014','Rosaï-Dorfman disease','Disease','Rosaï-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia.'),('158019','Indeterminate cell histiocytosis','Disease','A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).'),('158022','Progressive nodular histiocytosis','Disease','Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.'),('158025','Hereditary progressive mucinous histiocytosis','Disease','Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.'),('158029','Sea-blue histiocytosis','Disease','no definition available'),('158032','Hemophagocytic syndrome','Category','Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).'),('158038','Primary hemophagocytic lymphohistiocytosis','Clinical group','no definition available'),('158041','Secondary hemophagocytic lymphohistiocytosis','Category','no definition available'),('158048','Hemophagocytic syndrome associated with an infection','Particular clinical situation in a disease or syndrome','no definition available'),('158057','Acquired hemophagocytic lymphohistiocytosis associated with malignant disease','Particular clinical situation in a disease or syndrome','A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.'),('158061','Macrophage activation syndrome','Clinical syndrome','no definition available'),('1581','Non-distal monosomy 10q','Malformation syndrome','Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.'),('158124','Genetic dementia','Category','no definition available'),('158266','Huntington disease-like syndrome','Clinical group','no definition available'),('158300','Rare genetic hematologic disease','Category','no definition available'),('158661','Suprabasal epidermolysis bullosa simplex','Clinical group','Suprabasal epidermolysis bullosa simplex is a subtype of inherited epidermolysis bullosa simplex and comprises a group of clinically and genetically heterogeneous conditions, with phenotype ranging from mild to severe, principally characterized by infantile, localized or generalized, superficial skin erosions due to blistering within the middle or upper epidermal layers. Features of ectodermal dysplasia are frequently associated and depending on the specific disorder, variable extracutaneous involvement may be observed.'),('158665','Basal epidermolysis bullosa simplex','Clinical group','no definition available'),('158668','Epidermolysis bullosa simplex due to plakophilin deficiency','Disease','Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.'),('158673','Acral dystrophic epidermolysis bullosa','Disease','A very rare dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.'),('158676','Dominant dystrophic epidermolysis bullosa, nails only','Disease','Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails.'),('158681','Epidermolysis bullosa simplex with circinate migratory erythema','Disease','Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.'),('158684','Epidermolysis bullosa simplex with pyloric atresia','Disease','Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.'),('158687','Lethal acantholytic epidermolysis bullosa','Disease','Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.'),('1587','Monosomy 13q14','Malformation syndrome','Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.'),('158766','Typical urticaria pigmentosa','Clinical subtype','no definition available'),('158769','Plaque-form urticaria pigmentosa','Clinical subtype','no definition available'),('158772','Nodular urticaria pigmentosa','Clinical subtype','no definition available'),('158775','Smoldering systemic mastocytosis','Disease','A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.'),('158778','Isolated bone marrow mastocytosis','Disease','no definition available'),('158793','OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia','Clinical subtype','no definition available'),('158796','OBSOLETE: Classic mast cell leukemia','Disease','no definition available'),('158799','OBSOLETE: Aleukemic mast cell leukemia','Disease','no definition available'),('159','Carnitine-acylcarnitine translocase deficiency','Disease','Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.'),('1590','Distal monosomy 13q','Malformation syndrome','Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.'),('1596','Distal monosomy 15q','Malformation syndrome','Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.'),('1597','Distal monosomy 17q','Malformation syndrome','A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.'),('1598','Monosomy 18p','Disease','Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.'),('16','Blue cone monochromatism','Disease','Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).'),('160','Castleman disease','Disease','Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form (see these terms). The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.'),('1600','Monosomy 18q','Malformation syndrome','Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.'),('160148','Cap polyposis','Disease','A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.'),('1606','1p36 deletion syndrome','Malformation syndrome','1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.'),('1611','OBSOLETE: Deletion 20p','Malformation syndrome','no definition available'),('1617','2q24 microdeletion syndrome','Malformation syndrome','2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.'),('162','Cataract-glaucoma syndrome','Malformation syndrome','Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.'),('1620','Distal monosomy 3p','Malformation syndrome','Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.'),('1621','3q13 microdeletion syndrome','Malformation syndrome','3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.'),('1625','OBSOLETE: Deletion 4q','Malformation syndrome','no definition available'),('162516','Isolated congenital nasal pyriform aperture stenosis','Malformation syndrome','no definition available'),('162521','OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly','Malformation syndrome','no definition available'),('162526','Isolated congenital auditory ossicle malformation','Morphological anomaly','Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.'),('1627','Deletion 5q35','Malformation syndrome','Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.'),('163','Hereditary hyperferritinemia-cataract syndrome','Disease','Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.'),('163209','Non-syndromic cerebral malformation due to abnormal neuronal migration','Category','no definition available'),('163525','Subacute cutaneous lupus erythematosus','Disease','A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.'),('163528','OBSOLETE: Acute cutaneous lupus erythematosus','Clinical group','no definition available'),('163531','Chronic cutaneous lupus erythematosus','Clinical group','A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.'),('163582','Rare bacterial infectious disease','Category','no definition available'),('163585','Rare viral disease','Category','no definition available'),('163588','Rare parasitic disease','Category','no definition available'),('163591','Rare mycosis','Category','no definition available'),('163596','Hb Bart`s hydrops fetalis','Clinical subtype','A rare, severe form of alpha-thalassemia that is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.'),('1636','Distal monosomy 7q36','Malformation syndrome','Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.'),('163631','Bile acid synthesis defect with cholestasis and malabsorption','Category','no definition available'),('163634','Maffucci syndrome','Disease','Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.'),('163637','Rare disorder related with pregnancy, childbirth and puerperium','Category','no definition available'),('163649','Spondyloepiphyseal dysplasia, Nishimura type','Disease','Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.'),('163654','Spondyloepiphyseal dysplasia, Cantu type','Disease','Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).'),('163662','Spondyloepiphyseal dysplasia, Reardon type','Disease','Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.'),('163665','Spondyloepiphyseal dysplasia tarda, Kohn type','Disease','Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.'),('163668','Spondyloepiphyseal dysplasia, MacDermot type','Malformation syndrome','Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.'),('163673','Spondyloepiphyseal dysplasia, Byers type','Disease','no definition available'),('163678','OBSOLETE: Unclassified spondylometaphyseal dysplasia','Disease','no definition available'),('163681','Cortical dysplasia-focal epilepsy syndrome','Disease','A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.'),('163684','Leukoencephalopathy-dystonia-motor neuropathy syndrome','Disease','Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.'),('163690','Hypotonia-cystinuria syndrome','Disease','A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.'),('163693','2p21 microdeletion syndrome','Disease','The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.'),('163696','Action myoclonus-renal failure syndrome','Disease','A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.'),('163699','Alveolar soft tissue sarcoma','Disease','A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epitheloid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.'),('163703','Febrile infection-related epilepsy syndrome','Disease','Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.'),('163708','Cryptogenic late-onset epileptic spasms','Disease','Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.'),('163717','Benign familial mesial temporal lobe epilepsy','Disease','Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.'),('163721','Rolandic epilepsy-speech dyspraxia syndrome','Disease','Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.'),('163727','Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer`s cramp syndrome','Disease','no definition available'),('163746','Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease','Disease','Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.'),('163892','Limbic encephalitis','Clinical group','no definition available'),('163895','Paraneoplastic limbic encephalitis','Clinical group','no definition available'),('163898','Classic paraneoplastic limbic encephalitis','Disease','Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.'),('163903','Limbic encephalitis associated with antibodies to cell membrane antigens','Category','no definition available'),('163908','Limbic encephalitis with LGI1 antibodies','Disease','Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.'),('163914','OBSOLETE: Limbic encephalitis with nCMAgs antibodies','Disease','no definition available'),('163918','Non-paraneoplastic limbic encephalitis','Category','no definition available'),('163921','Posttransplant acute limbic encephalitis','Particular clinical situation in a disease or syndrome','Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.'),('163924','Non-herpetic acute limbic encephalitis','Disease','Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.'),('163927','Pustulosis palmaris et plantaris','Disease','no definition available'),('163931','Acrodermatitis continua of Hallopeau','Disease','A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.'),('163934','Atopic keratoconjunctivitis','Disease','A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.'),('163937','X-linked intellectual disability, Najm type','Disease','Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.'),('163953','X-linked intellectual disability, Raymond type','Disease','no definition available'),('163956','X-linked intellectual disability, Nascimento type','Disease','X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.'),('163961','X-linked cerebral-cerebellar-coloboma syndrome','Disease','X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.'),('163966','X-linked dominant chondrodysplasia, Chassaing-Lacombe type','Disease','X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.'),('163971','X-linked intellectual disability, Cilliers type','Disease','X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).'),('163976','X-linked intellectual disability, Van Esch type','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge.'),('163979','X-linked intellectual disability-craniofacioskeletal syndrome','Disease','X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.'),('163982','X-linked intellectual disability-spastic quadriparesis syndrome','Disease','no definition available'),('163985','Hyperekplexia-epilepsy syndrome','Disease','A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsecuent decline, may be additionally associated.'),('163988','OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type','Malformation syndrome','no definition available'),('164','NON RARE IN EUROPE: Cerebral cavernous malformations','Disease','no definition available'),('164001','Rare odontal or periodontal disorder','Category','no definition available'),('164004','Middle ear anomaly','Category','no definition available'),('1642','Distal monosomy 9p','Malformation syndrome','Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.'),('1643','Xp22.3 microdeletion syndrome','Malformation syndrome','Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.'),('1646','Partial chromosome Y deletion','Malformation syndrome','Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.'),('1647','Oculocerebrocutaneous syndrome','Malformation syndrome','A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.'),('164726','Acute myeloid leukemia and myelodysplastic syndromes related to radiation','Disease','A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.'),('164736','Familial advanced sleep-phase syndrome','Disease','A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.'),('1648','NON RARE IN EUROPE: Dementia with Lewy body','Disease','no definition available'),('164823','Rare acquired aplastic anemia','Category','no definition available'),('165','Neutral lipid storage disease','Clinical group','Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.'),('1651','OBSOLETE: Dennis-Cohen syndrome','Clinical group','no definition available'),('1652','Dent disease','Disease','Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.'),('1653','Dentin dysplasia','Disease','Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).'),('1654','OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome','Malformation syndrome','no definition available'),('1655','Müllerian derivatives-lymphangiectasia-polydactyly syndrome','Malformation syndrome','Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.'),('1656','Dermatitis herpetiformis','Disease','A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.'),('165652','Rare genetic gastroenterological disease','Category','no definition available'),('165655','Genetic intestinal disease','Category','no definition available'),('165658','Genetic gastro-esophageal disease','Category','no definition available'),('165661','Genetic pancreatic disease','Category','no definition available'),('1657','Dermatoosteolysis, Kirghizian type','Malformation syndrome','Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.'),('165704','Non-syndromic urogenital tract malformation','Category','no definition available'),('165707','Syndromic urogenital tract malformation','Category','no definition available'),('165711','Rare abdominal surgical disease','Category','no definition available'),('1658','Absence of fingerprints-congenital milia syndrome','Disease','A rare syndrome syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.'),('165805','Familial mesial temporal lobe epilepsy with febrile seizures','Disease','A rare, genetic, familial partial epilepsy disease characterized by simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedant history of febrile seizures, ocurring in various members of a family. Hippocampal abnormalities (e.g. hippocampal sclerosis) may also be associated.'),('1659','Dermatoleukodystrophy','Disease','A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.'),('165955','Wound myiasis','Disease','A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.'),('165958','Cavitary myiasis','Disease','Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.'),('165961','OBSOLETE: Subcutaneous myiasis','Clinical group','no definition available'),('165985','Diazoxide-sensitive diffuse hyperinsulinism','Clinical group','no definition available'),('165988','Diazoxide-resistant diffuse hyperinsulinism','Clinical group','Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.'),('165991','Exercise-induced hyperinsulinism','Disease','Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.'),('165994','Pituitary resistance to thyroid hormone','Disease','no definition available'),('166','Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy','Category','no definition available'),('1660','Dermoodontodysplasia','Malformation syndrome','Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.'),('166002','Multiple epiphyseal dysplasia due to collagen 9 anomaly','Disease','Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.'),('166011','Multiple epiphyseal dysplasia, Beighton type','Disease','Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.'),('166016','Multiple epiphyseal dysplasia, Lowry type','Disease','Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.'),('166024','Multiple epiphyseal dysplasia, Al-Gazali type','Disease','Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.'),('166029','Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia','Disease','Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.'),('166032','Multiple epiphyseal dysplasia, with miniepiphyses','Disease','Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.'),('166035','Brachydactyly-short stature-retinitis pigmentosa syndrome','Malformation syndrome','Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.'),('166038','Metaphyseal chondrodysplasia, Kaitila type','Disease','Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.'),('166063','Pontocerebellar hypoplasia type 4','Malformation syndrome','Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.'),('166068','Pontocerebellar hypoplasia type 5','Malformation syndrome','Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.'),('166073','Pontocerebellar hypoplasia type 6','Malformation syndrome','Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.'),('166078','Von Willebrand disease type 1','Clinical subtype','Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).'),('166081','Von Willebrand disease type 2','Clinical subtype','Type 2 von Willebrand disease (type 2 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).'),('166084','Von Willebrand disease type 2A','Clinical subtype','Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.'),('166087','Von Willebrand disease type 2B','Clinical subtype','Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.'),('166090','Von Willebrand disease type 2M','Clinical subtype','Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.'),('166093','Von Willebrand disease type 2N','Clinical subtype','Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).'),('166096','Von Willebrand disease type 3','Clinical subtype','Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD (see this term) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).'),('1661','X-linked corneal dermoid','Disease','X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.'),('166100','Autosomal dominant otospondylomegaepiphyseal dysplasia','Malformation syndrome','Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.'),('166105','FASTKD2-related infantile mitochondrial encephalomyopathy','Disease','FASTKD2-related infantile mitochondrial encephalomyopathy is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase acitivity in skeletal muscle biopsy.'),('166108','Intellectual disability, Birk-Barel type','Disease','Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.'),('166113','Bazex syndrome','Disease','Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.'),('166119','Isolated osteopoikilosis','Disease','no definition available'),('1662','Restrictive dermopathy','Disease','A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.'),('166260','Dentinogenesis imperfecta type 2','Clinical subtype','Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.'),('166265','Dentinogenesis imperfecta type 3','Clinical subtype','Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).'),('166272','Odontochondrodysplasia','Malformation syndrome','Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.'),('166277','Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia','Malformation syndrome','Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.'),('166282','Familial sick sinus syndrome','Disease','Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.'),('166286','Porokeratotic eccrine ostial and dermal duct nevus','Disease','no definition available'),('166291','Dirofilariasis','Disease','Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus Dirofilaria (including Dirofilaria repens, Dirofilaria immitis), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of `crawling` under the skin, and the ``Calabar`` swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.'),('166295','Benign non-familial infantile seizures','Clinical group','no definition available'),('166299','Benign partial epilepsy of infancy with complex partial seizures','Disease','Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.'),('166302','Benign partial epilepsy with secondarily generalized seizures in infancy','Disease','Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.'),('166305','Benign infantile seizures associated with mild gastroenteritis','Disease','Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.'),('166308','Benign infantile focal epilepsy with midline spikes and waves during sleep','Disease','Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.'),('166311','Benign partial infantile seizures','Clinical group','no definition available'),('1664','OBSOLETE: Embryonary disorganization syndrome','Malformation syndrome','no definition available'),('166409','Photosensitive epilepsy','Disease','A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.'),('166412','Hot water reflex epilepsy','Disease','Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.'),('166415','Audiogenic seizures','Disease','A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).'),('166418','Eating reflex epilepsy','Disease','A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.'),('166421','Orgasm-induced seizures','Disease','Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.'),('166424','Thinking seizures','Disease','Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik`s cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.'),('166427','Startle epilepsy','Disease','Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.'),('166430','Micturation-induced seizures','Disease','Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.'),('166433','Reading seizures','Disease','A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.'),('166457','OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis','Clinical group','no definition available'),('166463','Epilepsy syndrome','Category','no definition available'),('166466','Neurocutaneous syndrome with epilepsy','Category','no definition available'),('166469','Chromosomal anomaly with epilepsy as a major feature','Category','no definition available'),('166472','Monogenic disease with epilepsy','Category','no definition available'),('166475','Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes','Category','no definition available'),('166478','Cerebral malformation with epilepsy','Category','no definition available'),('166481','Metabolic diseases with epilepsy','Category','no definition available'),('166484','Inflammatory and autoimmune disease with epilepsy','Category','no definition available'),('166487','Cerebral diseases of vascular origin with epilepsy','Category','no definition available'),('166490','Infectious disease with epilepsy','Category','no definition available'),('1665','Sporadic fetal brain disruption sequence','Malformation syndrome','Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.'),('1666','Dextrocardia','Morphological anomaly','A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricles, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.'),('1667','Wolcott-Rallison syndrome','Disease','Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.'),('166775','Rare hemorrhagic disorder due to an acquired coagulation factor defect','Category','no definition available'),('167','Chédiak-Higashi syndrome','Disease','Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.'),('1670','Chronic diarrhea with villous atrophy','Disease','Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.'),('1671','Split cord malformation type I','Clinical subtype','A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.'),('1672','Diencephalic syndrome','Disease','Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.'),('1674','Digitorenocerebral syndrome','Malformation syndrome','no definition available'),('1675','Dihydropyrimidine dehydrogenase deficiency','Disease','no definition available'),('1676','Idiopathic pulmonary artery dilatation','Disease','Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.'),('167635','Scleromyxedema','Disease','no definition available'),('1677','Familial idiopathic dilatation of the right atrium','Morphological anomaly','A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.'),('167714','Unclassified acute myeloid leukemia','Category','no definition available'),('167759','Hereditary dentin defect','Category','The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.'),('167762','Rare disease with dentinogenesis imperfecta','Category','no definition available'),('1678','Dincsoy-Salih-Patel syndrome','Malformation syndrome','no definition available'),('167848','Rare cardiomyopathy','Category','no definition available'),('1679','Diphtheria','Disease','A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.'),('168','Loose anagen syndrome','Disease','Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.'),('1680','OBSOLETE: Spastic diplegia, infantile type','Disease','no definition available'),('1681','Diprosopus','Morphological anomaly','Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.'),('168194','Rare cardiac tumor','Category','no definition available'),('1682','Arterial dissection-lentiginosis syndrome','Malformation syndrome','A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).'),('1683','Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome','Malformation syndrome','no definition available'),('168443','Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome','Disease','Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.'),('168448','Spondyloepimetaphyseal dysplasia, Bieganski type','Disease','no definition available'),('168451','Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome','Disease','Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.'),('168454','Spondyloepimetaphyseal dysplasia, Geneviève type','Disease','Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.'),('168486','Congenital neuronal ceroid lipofuscinosis','Disease','Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.'),('168491','Late infantile neuronal ceroid lipofuscinosis','Disease','Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.'),('1685','Distomatosis','Disease','A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.'),('168544','Spondylometaphyseal dysplasia, Golden type','Disease','Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.'),('168549','Axial spondylometaphyseal dysplasia','Disease','Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.'),('168552','Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome','Disease','Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.'),('168555','Spondylometaphyseal dysplasia, A4 type','Disease','Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.'),('168558','46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency','Disease','46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.'),('168563','46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome','Malformation syndrome','46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.'),('168566','Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3','Disease','Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.'),('168569','H syndrome','Malformation syndrome','A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.'),('168572','Native American myopathy','Malformation syndrome','Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.'),('168577','Hereditary cryohydrocytosis with reduced stomatin','Disease','Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.'),('168583','Hereditary North American Indian childhood cirrhosis','Clinical subtype','Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.'),('168588','Hyperandrogenism due to cortisone reductase deficiency','Malformation syndrome','A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.'),('168593','Sudden infant death-dysgenesis of the testes syndrome','Malformation syndrome','Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.'),('168598','Brain demyelination due to methionine adenosyltransferase deficiency','Disease','Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.'),('1686','Cardiac diverticulum','Morphological anomaly','Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.'),('168601','Congenital enteropathy due to enteropeptidase deficiency','Disease','Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.'),('168606','Seborrhea-like dermatitis with psoriasiform elements','Disease','Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.'),('168609','Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure','Etiological subtype','no definition available'),('168612','Congenital deficiency in alpha-fetoprotein','Biological anomaly','Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.'),('168615','Hereditary persistence of alpha-fetoprotein','Biological anomaly','Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy'),('168621','Dysplasia of head of femur, Meyer type','Disease','Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.'),('168624','Familial scaphocephaly syndrome, McGillivray type','Malformation syndrome','Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.'),('168629','Autosomal thrombocytopenia with normal platelets','Etiological subtype','no definition available'),('168632','Generalized basaloid follicular hamartoma syndrome','Disease','Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.'),('168778','Rare pervasive developmental disorder','Category','no definition available'),('168782','Childhood disintegrative disorder','Disease','Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.'),('168796','Heart-hand syndrome, Slovenian type','Malformation syndrome','Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.'),('168803','Primary peritoneal tumor','Category','no definition available'),('168807','Primary malignant peritoneal tumor','Category','no definition available'),('168811','Malignant peritoneal mesothelioma','Disease','Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.'),('168816','Peritoneal cystic mesothelioma','Disease','Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.'),('168829','Primary peritoneal carcinoma','Disease','Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).'),('168940','Chronic eosinophilic leukemia','Disease','no definition available'),('168943','Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1','Category','no definition available'),('168947','Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement','Disease','A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.'),('168950','Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement','Disease','A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.'),('168953','Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement','Disease','A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.'),('168956','Hypereosinophilic syndrome','Clinical group','Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.'),('168960','Refractory anemia with excess blasts in transformation','Disease','no definition available'),('168966','Composite lymphoma','Disease','no definition available'),('168972','Kahrizi syndrome','Disease','no definition available'),('168984','CLAPO syndrome','Malformation syndrome','CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).'),('168999','Malignant melanoma of the mucosa','Disease','A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.'),('169','Ringed hair disease','Disease','Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.'),('169079','Cernunnos-XLF deficiency','Disease','Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.'),('169082','Combined immunodeficiency due to CD3gamma deficiency','Disease','Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.'),('169085','Susceptibility to respiratory infections associated with CD8alpha chain mutation','Disease','Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.'),('169090','Combined immunodeficiency due to CRAC channel dysfunction','Disease','Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.'),('169095','Severe combined immunodeficiency due to FOXN1 deficiency','Disease','A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.'),('169100','Immunodeficiency due to CD25 deficiency','Disease','Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.'),('169105','Good syndrome','Disease','Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.'),('169110','Immunoglobulin heavy chain deficiency','Disease','no definition available'),('169139','Transient hypogammaglobulinemia of infancy','Disease','no definition available'),('169142','Recurrent infection due to specific granule deficiency','Disease','no definition available'),('169147','Immunodeficiency due to a classical component pathway complement deficiency','Disease','Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.'),('169150','Immunodeficiency due to a late component of complement deficiency','Disease','Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.'),('169154','T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency','Disease','no definition available'),('169157','T-B+ severe combined immunodeficiency due to CD45 deficiency','Disease','no definition available'),('169160','T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta','Disease','no definition available'),('169163','Familial scaphocephaly syndrome','Category','no definition available'),('169186','Autosomal recessive centronuclear myopathy','Disease','A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.'),('169189','Autosomal dominant centronuclear myopathy','Disease','A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.'),('1692','Mosaic trisomy 1','Malformation syndrome','A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (campodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.'),('169346','DNA repair defect other than combined T-cell and B-cell immunodeficiencies','Category','no definition available'),('169349','Immuno-osseous dysplasia','Clinical group','no definition available'),('169355','Immunodeficiency syndrome with autoimmunity','Category','no definition available'),('169361','Immune dysregulation disease with immunodeficiency','Category','no definition available'),('169443','Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells','Category','no definition available'),('169446','OBSOLETE: Autosomal recessive hyper-IgE syndrome','Clinical group','no definition available'),('169464','Primary CD59 deficiency','Disease','Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).'),('169467','Recurrent Neisseria infections due to factor D deficiency','Disease','Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.'),('1695','Non-distal trisomy 10q','Malformation syndrome','Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.'),('169615','Idiopathic central precocious puberty','Etiological subtype','no definition available'),('169618','Secondary central precocious puberty','Etiological subtype','no definition available'),('169793','Severe hemophilia B','Clinical subtype','Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169796','Moderately severe hemophilia B','Clinical subtype','Moderately severe hemophilia B is a form of hemophilia B (see this term) characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169799','Mild hemophilia B','Clinical subtype','Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('1698','Mosaic trisomy 12','Malformation syndrome','Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.'),('169802','Severe hemophilia A','Clinical subtype','Severe hemophilia A is a form of hemophilia A (see this term) characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169805','Moderately severe hemophilia A','Clinical subtype','Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169808','Mild hemophilia A','Clinical subtype','Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169826','Congenital vitamin K-dependent coagulation factors deficiency','Category','no definition available'),('1699','Trisomy 12p','Malformation syndrome','A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.'),('17','Fatal infantile lactic acidosis with methylmalonic aciduria','Disease','Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.'),('170','Woolly hair','Disease','A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.'),('1702','Non-distal trisomy 13q','Malformation syndrome','Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.'),('1703','Mosaic trisomy 14','Malformation syndrome','Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.'),('1705','Distal trisomy 14q','Malformation syndrome','Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.'),('1706','Mosaic trisomy 15','Malformation syndrome','Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.'),('1707','Distal trisomy 15q','Etiological subtype','no definition available'),('1708','Mosaic trisomy 16','Malformation syndrome','Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.'),('171','Primary sclerosing cholangitis','Disease','Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.'),('1711','Mosaic trisomy 17','Malformation syndrome','Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.'),('171201','High isolated anorectal malformation','Morphological anomaly','High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.'),('171208','Intermediate isolated anorectal malformation','Morphological anomaly','Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.'),('171215','Low isolated anorectal malformation','Morphological anomaly','Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.'),('171220','Rectal duplication','Morphological anomaly','Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.'),('1713','17p11.2 microduplication syndrome','Malformation syndrome','17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.'),('171430','Severe congenital nemaline myopathy','Disease','Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.'),('171433','Intermediate nemaline myopathy','Disease','Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.'),('171436','Typical nemaline myopathy','Disease','Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.'),('171439','Childhood-onset nemaline myopathy','Disease','Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.'),('171442','Adult-onset nemaline myopathy','Disease','A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.'),('171445','Muscle filaminopathy','Disease','Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.'),('1715','Trisomy 18p','Malformation syndrome','Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.'),('1716','Distal trisomy 18q','Malformation syndrome','Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.'),('171607','X-linked spastic paraplegia type 34','Disease','X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.'),('171612','Autosomal dominant spastic paraplegia type 37','Disease','A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.'),('171617','Autosomal dominant spastic paraplegia type 38','Disease','A complex hereditary spastic paraplegia characterized by mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported.'),('171622','Autosomal recessive spastic paraplegia type 32','Disease','Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.'),('171629','Autosomal recessive spastic paraplegia type 35','Disease','Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.'),('171673','Limbal stem cell deficiency','Disease','no definition available'),('171676','Periventricular leukomalacia','Particular clinical situation in a disease or syndrome','A rare neurologic condition characterized by focal periventricular necrosis and diffuse cerebral white matter injury. It most commonly occurs in premature infants. Signs of brain damage typically begin to show in early childhood. Long-term outcomes depend on the extent of the white matter injury and include cognitive delay, motor delay, vision and hearing impairment, and cerebral palsy.'),('171680','Lissencephaly due to TUBA1A mutation','Malformation syndrome','Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.'),('171684','Idiopathic bilateral vestibulopathy','Disease','Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.'),('171690','Metabolic myopathy due to lactate transporter defect','Disease','Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.'),('171695','Parkinsonian-pyramidal syndrome','Disease','Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).'),('1717','Distal trisomy 19q','Malformation syndrome','Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.'),('171700','Diffuse panbronchiolitis','Disease','Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis'),('171703','Microcephaly-polymicrogyria-corpus callosum agenesis syndrome','Malformation syndrome','Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.'),('171706','Short stature-delayed bone age due to thyroid hormone metabolism deficiency','Disease','Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.'),('171709','Male infertility due to globozoospermia','Clinical subtype','Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.'),('171714','Amish infantile epilepsy syndrome','Disease','no definition available'),('171719','Cutis laxa-Marfanoid syndrome','Malformation syndrome','A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.'),('171723','White sponge nevus','Disease','White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.'),('171829','6q16 microdeletion syndrome','Disease','Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.'),('171836','Amelogenesis imperfecta-gingival hyperplasia syndrome','Disease','no definition available'),('171839','Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome','Malformation syndrome','Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.'),('171844','Blindness-scoliosis-arachnodactyly syndrome','Malformation syndrome','This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.'),('171848','Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome','Disease','Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.'),('171851','MEDNIK syndrome','Disease','MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).'),('171860','Intellectual disability-cataracts-kyphosis syndrome','Disease','This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.'),('171863','Autosomal dominant spastic paraplegia type 42','Disease','A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.'),('171866','Spondyloepimetaphyseal dysplasia, aggrecan type','Disease','Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.'),('171871','Renal pseudohypoaldosteronism type 1','Clinical subtype','Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.'),('171876','Generalized pseudohypoaldosteronism type 1','Clinical subtype','Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.'),('171881','Cap myopathy','Disease','Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.'),('171886','Cylindrical spirals myopathy','Disease','Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.'),('171889','Myopathy with hexagonally cross-linked tubular arrays','Disease','Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.'),('171895','Myeloid hemopathy','Category','no definition available'),('171898','Lymphoid hemopathy','Category','no definition available'),('171901','Primary cutaneous T-cell lymphoma','Category','no definition available'),('171915','B-cell non-Hodgkin lymphoma','Category','no definition available'),('171918','T-cell non-Hodgkin lymphoma','Category','no definition available'),('171929','Trisomy 10p','Malformation syndrome','Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.'),('172','Progressive familial intrahepatic cholestasis','Disease','Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.'),('1723','Mosaic trisomy 2','Malformation syndrome','Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.'),('1724','Mosaic trisomy 20','Malformation syndrome','Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.'),('1727','22q11.2 microduplication syndrome','Malformation syndrome','The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.'),('172973','OBSOLETE: Congenital myopathy with protein accumulation','Category','no definition available'),('172976','Congenital myopathy with cores','Clinical group','no definition available'),('172979','OBSOLETE: Congenital myopathy with central nuclei','Category','no definition available'),('172982','OBSOLETE: Congenital myopathy with fiber size variation','Category','no definition available'),('172985','OBSOLETE: Congenital myopathy with vacuoles','Category','no definition available'),('173','Cholera','Disease','Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.'),('1738','Trisomy 4p','Malformation syndrome','Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.'),('1739','OBSOLETE: Duplication 4q','Malformation syndrome','no definition available'),('174','Metaphyseal chondrodysplasia, Schmid type','Disease','Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.'),('1742','Trisomy 5p','Malformation syndrome','Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.'),('1745','Distal trisomy 6p','Malformation syndrome','Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.'),('174590','Congenital hypogonadotropic hypogonadism','Category','no definition available'),('1747','Mosaic trisomy 7','Malformation syndrome','Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.'),('175','Cartilage-hair hypoplasia','Disease','Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.'),('1752','Trisomy 8q','Malformation syndrome','A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.'),('1756','Caudal duplication','Malformation syndrome','Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.'),('1757','Fibular dimelia-diplopodia syndrome','Malformation syndrome','A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.'),('1759','Thoraco-abdominal enteric duplication','Malformation syndrome','Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.'),('176','Non-rhizomelic chondrodysplasia punctata','Clinical group','Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.'),('1762','Trisomy Xq28','Malformation syndrome','Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.'),('1764','Familial dysautonomia','Disease','A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.'),('1765','Dyschondrosteosis-nephritis syndrome','Malformation syndrome','Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.'),('1766','Dysequilibrium syndrome','Disease','Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.'),('1767','Familial progressive vestibulocochlear dysfunction','Disease','no definition available'),('1768','Familial caudal dysgenesis','Malformation syndrome','Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.'),('177','Rhizomelic chondrodysplasia punctata','Disease','Rhizomelic chondrodysplasia is a form chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is calcifications near joints at birth.'),('1770','XY type gonadal dysgenesis-associated anomalies syndrome','Malformation syndrome','Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a `squashed down` appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included `punched out scalp defects` and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.'),('177101','Rare adult hypothyroidism','Category','no definition available'),('177107','Syndromic hypothyroidism','Category','no definition available'),('1772','45,X/46,XY mixed gonadal dysgenesis','Malformation syndrome','45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.'),('1773','Sacrococcygeal dysgenesis association','Malformation syndrome','no definition available'),('1775','Dyskeratosis congenita','Disease','A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.'),('1777','Temtamy syndrome','Malformation syndrome','A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.'),('1778','Facial dysmorphism-shawl scrotum-joint laxity syndrome','Malformation syndrome','Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.'),('1779','Dysmorphism-cleft palate-loose skin syndrome','Malformation syndrome','Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.'),('177901','Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1','Etiological subtype','no definition available'),('177904','Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2','Etiological subtype','no definition available'),('177907','Prader-Willi syndrome due to translocation','Etiological subtype','no definition available'),('177910','Prader-Willi syndrome due to imprinting mutation','Etiological subtype','no definition available'),('177926','Symptomatic form of hemophilia A in female carriers','Clinical subtype','Symptomatic hemophilia A in female carriers is a form of hemophilia A (see this term) that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.'),('177929','Symptomatic form of hemophilia B in female carriers','Clinical subtype','Symptomatic hemophilia B in female carriers is a form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.'),('178','Chordoma','Disease','Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.'),('1780','Thakker-Donnai syndrome','Malformation syndrome','Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.'),('178025','Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations','Category','no definition available'),('178029','Central diabetes insipidus','Disease','Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).'),('178040','Rare peripheral precocious puberty','Category','no definition available'),('178045','Transient congenital hypothyroidism','Clinical group','no definition available'),('178145','Moderate multiminicore disease with hand involvement','Clinical subtype','no definition available'),('178148','Antenatal multiminicore disease with arthrogryposis multiplex congenita','Clinical subtype','no definition available'),('1782','Dysosteosclerosis','Malformation syndrome','Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.'),('178303','8q22.1 microdeletion syndrome','Malformation syndrome','The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.'),('178307','Reticulate acropigmentation of Kitamura','Disease','A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.'),('178311','Isolated sternocostoclavicular hyperostosis','Disease','Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.'),('178315','Undifferentiated embryonal sarcoma of the liver','Disease','Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.'),('178320','Acute lung injury','Clinical syndrome','no definition available'),('178330','OBSOLETE: Heinz body anemia','Disease','no definition available'),('178333','Åland Islands eye disease','Disease','An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.'),('178338','UV-sensitive syndrome','Disease','A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.'),('178342','Inflammatory myofibroblastic tumor','Disease','Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.'),('178345','Aromatase excess syndrome','Disease','A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.'),('178355','Smith-McCort dysplasia','Disease','Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.'),('178364','Syndromic microphthalmia type 5','Malformation syndrome','Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.'),('178377','Osteosclerosis-developmental delay-craniosynostosis syndrome','Malformation syndrome','This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).'),('178382','Congenital vertical talus','Morphological anomaly','Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.'),('178389','Osteopetrosis-hypogammaglobulinemia syndrome','Disease','Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.'),('178396','Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation','Disease','Hemorrhagic disease due to alpha-1-antitrypsin Pittsburg mutation is a rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.'),('1784','Acrofrontofacionasal dysostosis','Malformation syndrome','A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.'),('178400','Distal myopathy with anterior tibial onset','Disease','Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.'),('178461','X-linked myopathy with postural muscle atrophy','Disease','X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.'),('178464','Hereditary myopathy with early respiratory failure','Disease','A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.'),('178469','Autosomal dominant non-syndromic intellectual disability','Etiological subtype','no definition available'),('178475','Wound botulism','Etiological subtype','Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by Clostridium botulinum.'),('178478','Infant botulism','Clinical subtype','A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.'),('178481','Intestinal botulism','Clinical subtype','A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).'),('178487','Adult intestinal botulism','Clinical subtype','A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.'),('178493','Myopic macular degeneration','Disease','A rare, genetic macular disorder characterised by severe near-sightedness resulting from continual elongation of the eyeball. As the eyeball stretches the sclera and retina thin and the macula can tear, causing bleeding beneath the retina. It is a major cause of irreversible vision loss.'),('178503','Dursun syndrome','Malformation syndrome','no definition available'),('178506','Brain calcification, Rajab type','Disease','A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.'),('178509','Perry syndrome','Disease','A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.'),('178512','Folliculotropic mycosis fungoides','Disease','A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.'),('178517','Localized pagetoid reticulosis','Disease','A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.'),('178522','Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma','Disease','A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.'),('178528','Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma','Disease','Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.'),('178533','Primary cutaneous gamma/delta-positive T-cell lymphoma','Disease','Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.'),('178536','Primary cutaneous marginal zone B-cell lymphoma','Disease','A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.'),('178540','Primary cutaneous follicle center lymphoma','Disease','A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.'),('178544','Primary cutaneous diffuse large B-cell lymphoma, leg type','Disease','A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.'),('178548','Indolent primary cutaneous T-cell lymphoma','Clinical group','no definition available'),('178551','Aggressive primary cutaneous T-cell lymphoma','Clinical group','no definition available'),('178554','Aggressive primary cutaneous B-cell lymphoma','Clinical group','no definition available'),('178557','Indolent primary cutaneous B-cell lymphoma','Clinical group','no definition available'),('178563','Primary cutaneous B-cell lymphoma','Category','no definition available'),('178566','Mycosis fungoides and variants','Clinical group','A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.'),('1786','Acrofacial dysostosis, Catania type','Malformation syndrome','A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow`s peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.'),('1787','Acrofacial dysostosis, Palagonia type','Malformation syndrome','A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.'),('1788','Acrofacial dysostosis, Rodríguez type','Malformation syndrome','A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.'),('1789','OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome','Malformation syndrome','no definition available'),('178996','Acquired neutropenia','Category','no definition available'),('179','Birdshot chorioretinopathy','Disease','Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.'),('1790','Hypomandibular faciocranial dysostosis','Malformation syndrome','Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.'),('179006','Primary immunodeficiency due to a defect in adaptive immunity','Category','no definition available'),('1791','Frontofacionasal dysplasia','Malformation syndrome','A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).'),('1792','Humerospinal dysostosis','Disease','no definition available'),('1794','Oculomaxillofacial dysostosis','Malformation syndrome','Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.'),('179490','Obesity due to congenital leptin resistance','Etiological subtype','no definition available'),('179494','Obesity due to leptin receptor gene deficiency','Etiological subtype','A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.'),('1795','Peripheral dysostosis','Malformation syndrome','Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.'),('1797','Autosomal dominant spondylocostal dysostosis','Malformation syndrome','A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.'),('1798','Dysostosis, Stanescu type','Malformation syndrome','Stanescu type dysostosis is a rare form of osteosclerosis.'),('1799','Familial developmental dysphasia','Clinical syndrome','Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.'),('18','Distal renal tubular acidosis','Disease','Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.'),('180','Choroideremia','Disease','Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.'),('1800','OBSOLETE: Craniofaciocervical osteoglyphic dysplasia','Malformation syndrome','no definition available'),('180062','Uterovaginal malformation','Category','no definition available'),('180065','Non-syndromic uterovaginal malformation','Category','no definition available'),('180068','Partial bilateral aplasia of the Müllerian ducts','Clinical group','no definition available'),('180071','Unilateral aplasia of the Müllerian ducts','Clinical group','no definition available'),('180074','True unicornuate uterus','Morphological anomaly','A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.'),('180079','Pseudounicornuate uterus','Morphological anomaly','A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.'),('180086','Didelphys uterus','Morphological anomaly','no definition available'),('1801','Kyphomelic dysplasia','Malformation syndrome','A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.'),('180106','Bicervical bicornuate uterus and blind hemivagina','Clinical subtype','no definition available'),('180111','Bicervical bicornuate uterus with patent cervix and vagina','Clinical subtype','no definition available'),('180114','Unicervical bicornuate uterus','Morphological anomaly','no definition available'),('180118','NON RARE IN EUROPE: Cordiform uterus','Morphological anomaly','no definition available'),('180122','Septate uterus','Clinical group','no definition available'),('180126','Complete septate uterus','Morphological anomaly','Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.'),('180129','Partial septate uterus','Morphological anomaly','Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.'),('180134','Bicornuate uterus','Clinical group','no definition available'),('180139','Uterine hypoplasia','Morphological anomaly','A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.'),('180142','Absence of uterine body','Morphological anomaly','A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.'),('180145','Uterine cervical aplasia and agenesis','Morphological anomaly','A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.'),('180148','Syndromic uterovaginal malformation','Category','no definition available'),('180151','Rare vaginal malformation','Category','no definition available'),('180154','Septate vagina','Morphological anomaly','no definition available'),('180157','Longitudinal vaginal septum','Clinical subtype','no definition available'),('180160','Transverse vaginal septum','Clinical subtype','no definition available'),('180163','Rare breast malformation','Category','no definition available'),('180170','Excess breast volume or number','Category','no definition available'),('180173','Deficient breast volume or number','Category','no definition available'),('180176','Familial juvenile hypertrophy of the breast','Morphological anomaly','A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.'),('180182','Supernumerary breasts','Morphological anomaly','A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.'),('180188','Isolated congenital breast hypoplasia/aplasia','Morphological anomaly','A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.'),('180193','Syndromic breast hypoplasia/aplasia','Category','no definition available'),('180199','Rare non-malformative gynecologic or obstetric disease','Category','no definition available'),('1802','Ghosal hematodiaphyseal dysplasia','Malformation syndrome','Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.'),('180202','Rare non-malformative breast disease','Category','no definition available'),('180205','Rare non-malformative uterovaginal or vulvovaginal disease','Category','no definition available'),('180208','Anomaly of puberty or/and menstrual cycle','Category','no definition available'),('180220','Rare uterine adnexal tumor','Category','no definition available'),('180226','Embryonal carcinoma','Disease','no definition available'),('180229','Polyembryoma','Disease','no definition available'),('180234','Mixed germ cell tumor','Disease','no definition available'),('180237','Benign tumor of fallopian tubes','Disease','no definition available'),('180242','Malignant tumor of fallopian tubes','Disease','no definition available'),('180247','Vaginal carcinoma','Disease','no definition available'),('180250','Rare breast tumor','Category','no definition available'),('180253','Rare benign breast tumor','Category','no definition available'),('180257','Rare malignant breast tumor','Category','no definition available'),('180261','Phyllodes tumor of the breast','Disease','Phyllode tumor of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumors, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin.'),('180267','Giant adenofibroma of the breast','Disease','Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.'),('180275','Paget disease of the nipple','Disease','Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.'),('180284','NON RARE IN EUROPE: Benign ductal tumor of breast','Disease','no definition available'),('1803','Thoracomelic dysplasia','Disease','Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.'),('180303','Rare non-malformative uterine adnexal disease','Category','no definition available'),('180312','Rare vulvovaginal tumor','Category','no definition available'),('1804','Dyssegmental dysplasia-glaucoma syndrome','Malformation syndrome','no definition available'),('1806','Ectodermal dysplasia-blindness syndrome','Malformation syndrome','Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.'),('1807','Focal facial dermal dysplasia type III','Clinical subtype','Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.'),('180766','Malformative syndrome with dentinogenesis imperfecta','Category','no definition available'),('180772','Rare disease with autism','Category','no definition available'),('180776','Non-syndromic diaphragmatic or thoracic malformation','Category','no definition available'),('180779','Syndromic diaphragmatic or thoracic malformation','Category','no definition available'),('1808','Hidrotic ectodermal dysplasia, Christianson-Fourie type','Malformation syndrome','Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.'),('180821','Rare gastroesophageal tumor','Category','no definition available'),('180824','Rare tumor of pancreas','Category','no definition available'),('1809','Hidrotic ectodermal dysplasia, Halal type','Malformation syndrome','Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.'),('181','X-linked hypohidrotic ectodermal dysplasia','Etiological subtype','no definition available'),('1810','Autosomal dominant hypohidrotic ectodermal dysplasia','Etiological subtype','no definition available'),('1811','Odontomicronychial dysplasia','Malformation syndrome','Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.'),('1812','Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome','Malformation syndrome','Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.'),('181368','Rare insulin-resistance syndrome','Category','no definition available'),('181371','Rare diabetes mellitus type 1','Category','no definition available'),('181376','Rare diabetes mellitus type 2','Category','no definition available'),('181381','Other rare diabetes mellitus','Category','no definition available'),('181384','Rare hypothalamic or pituitary disease','Category','no definition available'),('181387','Rare disorder with hypogonadotropic hypogonadism','Category','no definition available'),('181390','Hypogonadotropic hypogonadism associated with other endocrinopathies','Category','no definition available'),('181393','Growth hormone insensitivity syndrome','Category','Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).'),('181396','Rare hypothyroidism','Category','no definition available'),('181399','Rare hyperthyroidism','Category','no definition available'),('181402','Syndrome with hypoparathyroidism','Category','no definition available'),('181405','Rare hypoparathyroidism','Category','no definition available'),('181408','Rare hyperparathyroidism','Category','no definition available'),('181412','Adrenogenital syndrome','Category','no definition available'),('181415','Rare primary hyperaldosteronism','Category','no definition available'),('181419','Rare hypoaldosteronism','Category','no definition available'),('181422','Rare hyperlipidemia','Category','no definition available'),('181425','OBSOLETE: Rare major hypertriglyceridemia','Clinical group','no definition available'),('181428','Hyperalphalipoproteinemia','Clinical group','no definition available'),('181431','Rare hypolipidemia','Category','no definition available'),('181437','Rare syndromic dyslipidemia','Category','no definition available'),('181441','Rare disorder with hypergonadotropic hypogonadism','Category','no definition available'),('1816','Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome','Malformation syndrome','Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.'),('1818','Ectodermal dysplasia, trichoodontoonychial type','Malformation syndrome','Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.'),('1819','OBSOLETE: Epimetaphyseal skeletal dysplasia','Malformation syndrome','no definition available'),('182','Chromomycosis','Disease','Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.'),('182040','Aplastic anemia','Category','no definition available'),('182043','Rare constitutional hemolytic anemia','Category','no definition available'),('182047','Rare acquired hemolytic anemia','Category','no definition available'),('182050','MYH9-related disease','Disease','MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.'),('182054','Rare thrombotic disease of hematologic origin','Category','no definition available'),('182058','Primary orthostatic hypotension','Clinical group','no definition available'),('182061','Cerebellar malformation','Category','no definition available'),('182064','Rare neuroinflammatory or neuroimmunological disease','Category','no definition available'),('182067','Glial tumor','Clinical group','no definition available'),('182070','Rare neurodegenerative disease','Category','no definition available'),('182073','Syndromic neurometabolic disease with non-X-linked intellectual disability','Category','no definition available'),('182076','Syndromic neurometabolic disease with X-linked intellectual disability','Category','no definition available'),('182079','ARX-related epileptic encephalopathy','Clinical group','no definition available'),('182083','Channelopathy with epilepsy','Category','no definition available'),('182086','Acquired peripheral neuropathy','Category','no definition available'),('182090','Pulmonary arterial hypertension','Category','Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).'),('182095','Interstitial lung disease','Category','no definition available'),('182098','Pneumoconiosis','Clinical group','no definition available'),('182101','Idiopathic eosinophilic pneumonia','Clinical group','no definition available'),('182104','Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease','Category','no definition available'),('182108','Thoracic malformation','Category','no definition available'),('182111','Respiratory malformation','Category','no definition available'),('182114','Rare urogenital tumor','Category','no definition available'),('182117','Non-syndromic urogenital tract malformation of female','Category','no definition available'),('182121','Non-syndromic urogenital tract malformation of male','Category','no definition available'),('182124','Non-syndromic urogenital tract malformation of male and female','Category','no definition available'),('182127','Extragonadal germinoma','Disease','Extragonadal germinoma is a rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.'),('182130','Tumor of endocrine glands','Category','no definition available'),('1822','Dysplasia epiphysealis hemimelica','Malformation syndrome','no definition available'),('182214','OBSOLETE: Rare inflammatory eye disease','Category','no definition available'),('182222','Rare systemic disease','Category','no definition available'),('182228','Systemic autoimmune disease','Category','no definition available'),('182231','Rare rheumatologic disease','Category','no definition available'),('1823','OBSOLETE: Localized epiphyseal dysplasia','Malformation syndrome','no definition available'),('1824','Lowry-Wood syndrome','Disease','A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.'),('1825','Epiphyseal dysplasia-hearing loss-dysmorphism syndrome','Malformation syndrome','Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.'),('1826','Frontometaphyseal dysplasia','Disease','A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.'),('1827','Acromelic frontonasal dysplasia','Malformation syndrome','A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.'),('182734','Genetic urticaria','Clinical group','no definition available'),('183','Eosinophilic granulomatosis with polyangiitis','Disease','Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.'),('1830','Schimke immuno-osseous dysplasia','Disease','Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.'),('1831','De Hauwere syndrome','Malformation syndrome','no definition available'),('1832','Lethal osteosclerotic bone dysplasia','Malformation syndrome','A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.'),('1834','Axial mesodermal dysplasia spectrum','Malformation syndrome','Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.'),('183422','Polymalformative genetic syndrome with increased risk of developing cancer','Category','Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.'),('183426','Genetic epidermal disorder','Category','no definition available'),('183435','Inherited ichthyosis','Category','no definition available'),('183438','Genetic erythrokeratoderma','Category','no definition available'),('183441','Genetic acrokeratoderma','Category','no definition available'),('183444','Genetic porokeratosis','Category','no definition available'),('183447','Genetic epidermal appendage anomaly','Category','no definition available'),('183450','Genetic hair anomaly','Category','no definition available'),('183454','Genetic nail anomaly','Category','no definition available'),('183460','Genetic sebaceous gland anomaly','Category','no definition available'),('183463','Genetic pigmentation anomaly of the skin','Category','no definition available'),('183466','Genetic hyperpigmentation of the skin','Category','no definition available'),('183469','Genetic hypopigmentation of the skin','Category','no definition available'),('183472','Genetic dermis disorder','Category','no definition available'),('183478','Genetic skin vascular disorder','Category','no definition available'),('183481','Genetic mixed dermis disorder','Category','no definition available'),('183484','Genetic subcutaneous tissue disorder','Category','no definition available'),('183487','Genetic skin tumor','Category','no definition available'),('183490','Genetic photodermatosis','Category','no definition available'),('183494','Genetic immune deficiency with skin involvement','Category','no definition available'),('183497','Genetic neuromuscular disease','Category','no definition available'),('183500','Genetic neurodegenerative disease','Category','no definition available'),('183503','Genetic central nervous system and retinal vascular disease','Category','no definition available'),('183506','Genetic central nervous system malformation','Category','no definition available'),('183509','Rare genetic headache','Category','no definition available'),('183512','Rare genetic epilepsy','Category','no definition available'),('183515','Rare genetic medullar disease','Category','no definition available'),('183518','Rare hereditary ataxia','Category','no definition available'),('183521','Rare genetic movement disorder','Category','no definition available'),('183524','Rare genetic bone disease','Category','no definition available'),('183527','Genetic bone tumor','Category','no definition available'),('183530','Rare genetic developmental defect during embryogenesis','Category','no definition available'),('183533','Genetic multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('183536','Genetic congenital limb malformation','Category','no definition available'),('183539','Genetic renal or urinary tract malformation','Category','no definition available'),('183542','Genetic cranial malformation','Category','no definition available'),('183545','Genetic digestive tract malformation','Category','no definition available'),('183548','Genetic visceral malformation of the liver, biliary tract, pancreas or spleen','Category','no definition available'),('183554','Genetic respiratory or mediastinal malformation','Category','no definition available'),('183557','Genetic developmental defect of the eye','Category','no definition available'),('183570','Genetic malformation syndrome with short stature','Category','no definition available'),('183573','Genetic overgrowth/obesity syndrome','Category','no definition available'),('183576','Genetic branchial arch or oral-acral syndrome','Category','no definition available'),('183580','Genetic malformation syndrome with odontal and/or periodontal component','Category','no definition available'),('183583','Genetic head and neck malformation','Category','no definition available'),('183586','Genetic glomerular disease','Category','no definition available'),('183589','Genetic thrombotic microangiopathy','Category','no definition available'),('183592','Genetic renal tubular disease','Category','no definition available'),('183595','Genetic renal tumor','Category','no definition available'),('183598','OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease','Category','no definition available'),('1836','Mesomelic dysplasia, Kantaputra type','Malformation syndrome','Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.'),('183601','OBSOLETE: Rare genetic refraction anomaly','Category','no definition available'),('183604','OBSOLETE: Rare genetic glaucoma','Clinical group','no definition available'),('183607','Genetic lens and zonula anomaly','Category','no definition available'),('183616','Genetic neuro-ophthalmological disease','Category','no definition available'),('183619','Genetic eye tumor','Category','no definition available'),('183622','Genetic respiratory malformation','Category','no definition available'),('183625','Rare genetic diabetes mellitus','Category','no definition available'),('183628','Rare genetic hypothalamic or pituitary disease','Category','no definition available'),('183631','Rare genetic thyroid disease','Category','no definition available'),('183634','Rare genetic parathyroid disease and phosphocalcic metabolism disorder','Category','no definition available'),('183637','Rare genetic adrenal disease','Category','no definition available'),('183643','Genetic polyendocrinopathy','Category','no definition available'),('183651','Rare constitutional anemia','Category','no definition available'),('183654','Rare genetic coagulation disorder','Category','no definition available'),('183660','Severe combined immunodeficiency','Clinical group','Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.'),('183663','Hyper-IgM syndrome with susceptibility to opportunistic infections','Disease','Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.'),('183666','Hyper-IgM syndrome without susceptibility to opportunistic infections','Disease','Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.'),('183669','Agammaglobulinemia','Category','no definition available'),('183672','OBSOLETE: Common variable immunodeficiency due to TNFR deficiency','Etiological subtype','no definition available'),('183675','Recurrent infections associated with rare immunoglobulin isotypes deficiency','Disease','Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.'),('183678','Hermansky-Pudlak syndrome with neutropenia','Clinical subtype','Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.'),('183681','Functional neutrophil defect','Category','no definition available'),('1837','Ulna metaphyseal dysplasia syndrome','Disease','Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.'),('183707','Neutrophil immunodeficiency syndrome','Disease','Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.'),('183710','Genetic susceptibility to infections due to particular pathogens','Category','no definition available'),('183713','Bacterial susceptibility due to TLR signaling pathway deficiency','Disease','Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.'),('183716','OBSOLETE: Other complex syndrome of primary immunodeficiency','Category','no definition available'),('183731','Rare genetic gynecological and obstetrical diseases','Category','no definition available'),('183734','Genetic gynecological tumor','Category','no definition available'),('183757','Rare genetic intellectual disability','Category','no definition available'),('183763','Rare genetic syndromic intellectual disability','Category','no definition available'),('183770','Rare genetic immune disease','Category','no definition available'),('1838','Metaphyseal dysplasia without hypotrichosis','Disease','no definition available'),('1839','Hereditary mucoepithelial dysplasia','Malformation syndrome','A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.'),('184','Cherubism','Malformation syndrome','Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.'),('1842','Bone dysplasia, lethal Holmgren type','Malformation syndrome','Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.'),('1844','OBSOLETE: Bone dysplasia, Azouz type','Malformation syndrome','no definition available'),('1848','Renal agenesis, bilateral','Clinical subtype','Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.'),('1849','OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome','Malformation syndrome','no definition available'),('185','Scimitar syndrome','Malformation syndrome','Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.'),('1850','Renal dysplasia-megalocystis-sirenomelia syndrome','Malformation syndrome','no definition available'),('1851','Multicystic dysplastic kidney','Morphological anomaly','A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.'),('1852','X-linked retinal dysplasia','Disease','no definition available'),('1855','Spondyloenchondrodysplasia','Malformation syndrome','Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.'),('1856','Spondyloperipheral dysplasia-short ulna syndrome','Disease','Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.'),('1858','Skeletal dysplasia-epilepsy-short stature syndrome','Malformation syndrome','A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.'),('186','Primary biliary cholangitis','Disease','Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.'),('1860','Thanatophoric dysplasia type 1','Clinical subtype','Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.'),('1861','Thoracic dysplasia-hydrocephalus syndrome','Malformation syndrome','Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.'),('1863','NON RARE IN EUROPE: Trochlear dysplasia','Morphological anomaly','no definition available'),('1864','OBSOLETE: Congenital valvular dysplasia','Morphological anomaly','no definition available'),('1865','Dyssegmental dysplasia, Silverman-Handmaker type','Disease','Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.'),('1866','Focal, segmental or multifocal dystonia','Category','Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.'),('1867','Hereditary bullous dystrophy, macular type','Disease','Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.'),('187','Citrullinemia','Category','Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).'),('1871','Progressive cone dystrophy','Disease','A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.'),('1872','Cone rod dystrophy','Disease','A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.'),('1873','Jalili syndrome','Malformation syndrome','Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).'),('1875','Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome','Disease','Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.'),('1876','Oculogastrointestinal muscular dystrophy','Disease','Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.'),('1877','Muscular dystrophy-white matter spongiosis syndrome','Disease','no definition available'),('1878','TRIM32-related limb-girdle muscular dystrophy R8','Disease','A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.'),('1879','Melorheostosis with osteopoikilosis','Malformation syndrome','Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.'),('188','Systemic capillary leak syndrome','Disease','Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.'),('1880','Ebstein malformation','Morphological anomaly','Ebstein`s malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.'),('1882','Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome','Malformation syndrome','A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.'),('1883','Ectodermal dysplasia-sensorineural deafness syndrome','Malformation syndrome','Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.'),('1884','Ectopia lentis-chorioretinal dystrophy-myopia syndrome','Disease','A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.'),('1885','Isolated ectopia lentis','Malformation syndrome','Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.'),('1888','Ectrodactyly-ectodermal dysplasia without clefting syndrome','Malformation syndrome','no definition available'),('1889','Ectrodactyly-cleft palate syndrome','Malformation syndrome','no definition available'),('189','Hidrotic ectodermal dysplasia','Disease','Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.'),('1891','Intellectual disability-spasticity-ectrodactyly syndrome','Malformation syndrome','Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).'),('1892','Ectrodactyly-polydactyly syndrome','Malformation syndrome','Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.'),('1894','Ectrodactyly-spina bifida-cardiopathy syndrome','Malformation syndrome','no definition available'),('189424','OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia','Clinical group','no definition available'),('189427','Cushing syndrome due to macronodular adrenal hyperplasia','Disease','A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.'),('189439','Primary pigmented nodular adrenocortical disease','Disease','Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).'),('189466','Familial isolated hypoparathyroidism due to impaired PTH secretion','Clinical subtype','no definition available'),('1895','Edinburgh malformation syndrome','Malformation syndrome','Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.'),('1896','EEC syndrome','Malformation syndrome','EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).'),('1897','EEM syndrome','Malformation syndrome','EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).'),('1899','Arthrochalasia Ehlers-Danlos syndrome','Disease','A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.'),('19','2-hydroxyglutaric aciduria','Clinical group','2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.'),('190','Coats disease','Disease','Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.'),('1900','Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency','Clinical subtype','A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.'),('1901','Dermatosparaxis Ehlers-Danlos syndrome','Disease','A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.'),('1902','Ehrlichiosis','Disease','A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).'),('1906','Fetal valproate syndrome','Malformation syndrome','A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).'),('1908','Aminopterin/methotrexate embryofetopathy','Malformation syndrome','A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.'),('1909','Indomethacin embryofetopathy','Malformation syndrome','Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.'),('191','Cockayne syndrome','Disease','Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.'),('1910','Fetal iodine syndrome','Malformation syndrome','Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).'),('1911','Cocaine embryofetopathy','Malformation syndrome','Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.'),('1912','Fetal hydantoin syndrome','Malformation syndrome','A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.'),('1913','Fetal trimethadione syndrome','Malformation syndrome','A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.'),('1914','Vitamin K antagonist embryofetopathy','Malformation syndrome','Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.'),('1915','Fetal alcohol syndrome','Malformation syndrome','Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).'),('1916','Diethylstilbestrol syndrome','Malformation syndrome','A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.'),('1917','Fetal methylmercury syndrome','Malformation syndrome','A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.'),('1918','Fetal minoxidil syndrome','Malformation syndrome','Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.'),('1919','Phenobarbital embryopathy','Malformation syndrome','A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.'),('192','Coffin-Lowry syndrome','Malformation syndrome','Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.'),('1920','Toluene embryopathy','Malformation syndrome','A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.'),('1923','Methimazole embryofetopathy','Malformation syndrome','A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves` disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.'),('1926','Diabetic embryopathy','Malformation syndrome','A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.'),('1927','Emery-Nelson syndrome','Malformation syndrome','Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.'),('1928','Congenital lobar emphysema','Morphological anomaly','A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.'),('1929','Rasmussen subacute encephalitis','Disease','A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.'),('193','Cohen syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.'),('1930','Herpes simplex virus encephalitis','Disease','A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.'),('1931','Frontal encephalocele','Clinical subtype','no definition available'),('1933','Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria','Disease','Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.'),('1934','Early infantile epileptic encephalopathy','Clinical syndrome','A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.'),('1935','Early myoclonic encephalopathy','Clinical syndrome','A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.'),('1937','Eng-Strom syndrome','Malformation syndrome','A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.'),('1939','OBSOLETE: Envenomization by Bothrops lanceolatus','Disease','no definition available'),('194','OBSOLETE: Ocular coloboma','Clinical group','no definition available'),('1940','Shoulder and thorax deformity-congenital heart disease syndrome','Malformation syndrome','no definition available'),('1941','Juvenile absence epilepsy','Disease','Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.'),('1942','Myoclonic-astastic epilepsy','Disease','A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.'),('1943','Early-onset progressive encephalopathy with migrant continuous myoclonus','Disease','A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.'),('1945','Rolandic epilepsy','Disease','Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.'),('1946','Amelocerebrohypohidrotic syndrome','Malformation syndrome','Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.'),('1947','Progressive epilepsy-intellectual disability syndrome, Finnish type','Disease','Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.'),('1948','Epilepsy-microcephaly-skeletal dysplasia syndrome','Malformation syndrome','Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.'),('1949','Benign familial neonatal epilepsy','Disease','Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.'),('195','Cat-eye syndrome','Malformation syndrome','Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.'),('1951','Epilepsy-telangiectasia syndrome','Disease','A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.'),('1952','Pacman dysplasia','Malformation syndrome','A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.'),('1954','Congenital lethal erythroderma','Disease','A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.'),('1955','Spinocerebellar ataxia type 34','Disease','An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.'),('1956','OBSOLETE: Erythromelalgia','Disease','no definition available'),('1957','Esthesioneuroblastoma','Disease','Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.'),('1959','Evans syndrome','Disease','A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.'),('1962','Exostoses-anetodermia-brachydactyly type E syndrome','Malformation syndrome','An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.'),('1964','Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome','Malformation syndrome','Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.'),('1968','Flat face-microstomia-ear anomaly syndrome','Malformation syndrome','Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.'),('1969','Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome','Malformation syndrome','Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.'),('1970','Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome','Malformation syndrome','A rare disorder characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.'),('1972','Lethal faciocardiomelic dysplasia','Malformation syndrome','An extremely rare polymalformative syndrome.'),('1973','Faciocardiorenal syndrome','Malformation syndrome','A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.'),('1974','Autosomal recessive faciodigitogenital syndrome','Malformation syndrome','A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.'),('1979','Lipodystrophy due to peptidic growth factors deficiency','Disease','Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).'),('198','Occipital horn syndrome','Disease','Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.'),('1980','Bilateral striopallidodentate calcinosis','Disease','Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.'),('1981','Fanconi syndrome-ichthyosis-dysmorphism syndrome','Disease','no definition available'),('1983','NON RARE IN EUROPE: Chronic fatigue syndrome','Disease','no definition available'),('1984','Fechtner syndrome','Clinical subtype','no definition available'),('1986','Gollop-Wolfgang complex','Malformation syndrome','A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.'),('1987','Femoral agenesis/hypoplasia','Malformation syndrome','Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.'),('1988','Femoral-facial syndrome','Malformation syndrome','Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.'),('199','Cornelia de Lange syndrome','Malformation syndrome','Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).'),('1991','Cleft lip with or without cleft palate','Clinical group','no definition available'),('199241','Pulmonary capillary hemangiomatosis','Disease','no definition available'),('199244','Nelson syndrome','Clinical syndrome','A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing`s disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes inspidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.'),('199247','Corticosteroid-binding globulin deficiency','Disease','Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.'),('199251','Ledderhose disease','Disease','A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, fixed, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.'),('199257','Superficial fibromatosis','Clinical group','no definition available'),('199260','Calcifying aponeurotic fibroma','Disease','A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.'),('199267','Infantile digital fibromatosis','Disease','Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.'),('199276','Familial multiple lipomatosis','Disease','Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.'),('199279','Familial angiolipomatosis','Disease','Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.'),('199282','Harlequin syndrome','Disease','Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.'),('199285','Hereditary hypercarotenemia and vitamin A deficiency','Disease','Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.'),('199293','Congenital microgastria','Morphological anomaly','Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.'),('199296','Congenital isolated ACTH deficiency','Disease','A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.'),('199299','Late-onset isolated ACTH deficiency','Disease','Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto`s thyroiditis has been described.'),('1993','Pai syndrome','Malformation syndrome','A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.'),('199302','Isolated cleft lip','Morphological anomaly','Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.'),('199306','Cleft lip/palate','Morphological anomaly','Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.'),('199310','Tetragametic chimerism','Malformation syndrome','A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.'),('199315','Familial clubfoot with or without associated lower limb anomalies','Malformation syndrome','Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.'),('199318','15q13.3 microdeletion syndrome','Malformation syndrome','15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.'),('199323','Endophthalmitis','Disease','no definition available'),('199326','Isolated autosomal dominant hypomagnesemia, Glaudemans type','Disease','Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.'),('199329','Congenital myopathy, Paradas type','Disease','Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.'),('199332','Endocrine-cerebro-osteodysplasia syndrome','Malformation syndrome','Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.'),('199337','Pancreatic insufficiency-anemia-hyperostosis syndrome','Disease','This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.'),('199340','Muscular dystrophy, Selcen type','Disease','Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.'),('199343','EAST syndrome','Disease','SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).'),('199348','Thiamine-responsive encephalopathy','Disease','Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.'),('199351','Adult-onset dystonia-parkinsonism','Disease','A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.'),('199354','Cerebral autosomal recessive arteriopathy-subcortical infracts-leukoencephalopathy','Disease','CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.'),('1995','Cleft lip-retinopathy syndrome','Malformation syndrome','Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.'),('199627','Atypical autism','Disease','A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.'),('199630','Isolated cerebellar vermis hypoplasia','Morphological anomaly','Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.'),('199633','Non-syndromic cerebral malformation','Category','no definition available'),('199639','Syndrome with corpus callosum agenesis/dysgenesis as a major feature','Category','no definition available'),('199642','Isolated congenital microcephaly','Malformation syndrome','A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.'),('199647','Isolated encephalocele','Morphological anomaly','A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size nad location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.'),('1997','Blepharo-cheilo-odontic syndrome','Malformation syndrome','Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.'),('20','3-hydroxy-3-methylglutaric aciduria','Disease','A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.'),('200','Isolated corpus callosum agenesis','Morphological anomaly','no definition available'),('200037','Paroxysmal dystonia','Clinical group','no definition available'),('2001','Cleft lip/palate-intestinal malrotation-cardiopathy syndrome','Malformation syndrome','Cleft lip/palate-intestinal malrotation-cardiopathy is a multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.'),('2003','Cleft lip/palate-deafness-sacral lipoma syndrome','Malformation syndrome','Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.'),('2004','Laryngotracheoesophageal cleft','Morphological anomaly','A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.'),('200418','Immunodeficiency with factor I anomaly','Disease','Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.'),('200421','Immunodeficiency with factor H anomaly','Disease','Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.'),('2005','OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome','Malformation syndrome','no definition available'),('2006','Median cleft lip/mandibule','Morphological anomaly','Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier`s classification.'),('2007','Alar cartilages hypoplasia-coloboma-telecanthus syndrome','Malformation syndrome','A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.'),('2008','Acrocardiofacial syndrome','Malformation syndrome','A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.'),('201','Cowden syndrome','Disease','A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.'),('2010','Cleft palate-stapes fixation-oligodontia syndrome','Malformation syndrome','Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.'),('2013','Cleft palate-large ears-small head syndrome','Malformation syndrome','Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.'),('2014','Cleft palate','Clinical group','A fissure type embryopathy that affects the soft and hard palate to varying degrees.'),('2015','Cleft palate-short stature-vertebral anomalies syndrome','Malformation syndrome','Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.'),('2016','Cleft palate-lateral synechia syndrome','Malformation syndrome','Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.'),('2017','Sternal cleft','Morphological anomaly','Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.'),('2019','Femur-fibula-ulna complex','Malformation syndrome','Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.'),('202','Crandall syndrome','Disease','Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad`s syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.'),('2020','Congenital fiber-type disproportion myopathy','Disease','A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.'),('2021','Fibrochondrogenesis','Disease','Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.'),('2022','Endocardial fibroelastosis','Disease','Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.'),('2023','Undifferentiated pleomorphic sarcoma','Disease','An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.'),('2024','Hereditary gingival fibromatosis','Malformation syndrome','Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.'),('2025','Gingival fibromatosis-facial dysmorphism syndrome','Malformation syndrome','A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.'),('2026','Gingival fibromatosis-hypertrichosis syndrome','Malformation syndrome','A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.'),('2027','Gingival fibromatosis-progressive deafness syndrome','Malformation syndrome','A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.'),('2028','Juvenile hyaline fibromatosis','Clinical subtype','A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.'),('2029','Multiple non-ossifying fibromatosis','Malformation syndrome','no definition available'),('202940','Anomaly of puberty or/and menstrual cycle of genetic origin','Category','no definition available'),('202948','Syndromic microphthalmia-anophthalmia-coloboma','Category','no definition available'),('2030','Fibrosarcoma','Disease','no definition available'),('2031','Hepatic fibrosis-renal cysts-intellectual disability syndrome','Malformation syndrome','Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.'),('2032','Idiopathic pulmonary fibrosis','Disease','Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.'),('2033','OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome','Disease','no definition available'),('2034','Filariasis','Category','A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.'),('2035','Lymphatic filariasis','Disease','Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti, Brugia malayi and Brugia timori, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.'),('2036','Scalp-ear-nipple syndrome','Malformation syndrome','A rare syndrome characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed.'),('2037','Congenital aortopulmonary window','Morphological anomaly','no definition available'),('2038','Pulmonary arteriovenous malformation','Morphological anomaly','Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.'),('2039','Congenital systemic arteriovenous fistula','Morphological anomaly','Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.'),('204','Sporadic Creutzfeldt-Jakob disease','Disease','A subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD , and iatrogenic and variant CJD (vCJD).'),('2040','Congenital respiratory-biliary fistula','Morphological anomaly','Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.'),('2041','Coronary arterial fistula','Morphological anomaly','Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.'),('2042','OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome','Malformation syndrome','no definition available'),('2044','Floating-Harbor syndrome','Malformation syndrome','A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.'),('2045','FLOTCH syndrome','Disease','FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.'),('2047','Flynn-Aird syndrome','Disease','A rare neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts.'),('2048','Foix-Chavany-Marie syndrome','Malformation syndrome','A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.'),('205','Crigler-Najjar syndrome','Disease','Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.'),('2050','Cole-Carpenter syndrome','Malformation syndrome','An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).'),('2051','Fraser-like syndrome','Malformation syndrome','no definition available'),('2052','Fraser syndrome','Malformation syndrome','A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.'),('2053','Freeman-Sheldon syndrome','Malformation syndrome','Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.'),('2054','OBSOLETE: Osteochondritis of tarsal/metatarsal bone','Disease','no definition available'),('2055','Growth deficiency-brachydactyly-dysmorphism syndrome','Malformation syndrome','no definition available'),('2056','Essential fructosuria','Disease','Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.'),('2057','Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome','Malformation syndrome','A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.'),('2058','Fryns-Smeets-Thiry syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994.'),('2059','Fryns syndrome','Malformation syndrome','A rare multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.'),('206','NON RARE IN EUROPE: Crohn disease','Disease','no definition available'),('2060','Fukuda-Miyanomae-Nakata syndrome','Malformation syndrome','no definition available'),('2062','Progressive non-infectious anterior vertebral fusion','Malformation syndrome','Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.'),('2063','Splenogonadal fusion-limb defects-micrognathia syndrome','Malformation syndrome','Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.'),('2064','Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome','Malformation syndrome','A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.'),('206428','Hypoxanthine-guanine phosphoribosyltransferase deficiency','Clinical group','Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.'),('206436','Infantile Krabbe disease','Clinical subtype','no definition available'),('206443','Late-infantile/juvenile Krabbe disease','Clinical subtype','no definition available'),('206448','Adult Krabbe disease','Clinical subtype','no definition available'),('206470','Cystadenoma of childhood','Disease','Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.'),('206473','Borderline epithelial tumor of ovary','Disease','Borderline epithelial tumor of the ovary is an uncommon epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterized by indolent behavior and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognized, based on the epithelial cell type.'),('206484','Gonadoblastoma','Disease','Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.'),('206489','Malignant germ cell tumor of the vagina','Disease','Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported.'),('206492','Vulvovaginal rhabdomyosarcoma','Disease','Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.'),('2065','Galloway-Mowat syndrome','Malformation syndrome','A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.'),('206538','Malignant non-dysgerminomatous germ cell tumor of ovary','Disease','Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.'),('206546','Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers','Disease','A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.'),('206549','Anoctamin-5-related limb-girdle muscular dystrophy R12','Disease','A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.'),('206554','Fukutin-related limb-girdle muscular dystrophy R13','Disease','A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.'),('206559','POMT2-related limb-girdle muscular dystrophy R14','Disease','A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).'),('206564','POMGNT1-related limb-girdle muscular dystrophy R15','Disease','A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.'),('206569','Immune-mediated necrotizing myopathy','Disease','Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.'),('206572','Overlap myositis','Disease','Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.'),('206575','Rippling muscle disease with myasthenia gravis','Disease','Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).'),('206580','Autosomal recessive lower motor neuron disease with childhood onset','Disease','A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.'),('206583','Adult polyglucosan body disease','Clinical subtype','A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.'),('206586','Neurolymphomatosis','Disease','Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin`s lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.'),('206594','Subacute inflammatory demyelinating polyneuropathy','Disease','Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).'),('206599','Isolated asymptomatic elevation of creatine phosphokinase','Biological anomaly','Isolated asymptomatic elevation of creatine phosphokinase is a rare neurologic disease characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.'),('2066','Gamma-aminobutyric acid transaminase deficiency','Disease','Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.'),('206606','OBSOLETE: Other muscle weakness and/or chronic muscle pain','Clinical group','no definition available'),('206610','OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain','Clinical group','no definition available'),('206613','Infectious disease with peripheral neuropathy','Category','no definition available'),('206616','OBSOLETE: Acquired metabolic neuropathy','Disease','no definition available'),('206619','OBSOLETE: Toxic or/and iatrogenic neuropathy','Disease','no definition available'),('206634','Genetic skeletal muscle disease','Category','no definition available'),('206638','Acquired skeletal muscle disease','Category','no definition available'),('206644','Progressive muscular dystrophy','Category','no definition available'),('206647','Myotonic dystrophy','Clinical group','no definition available'),('206650','Autosomal dominant distal myopathy','Category','no definition available'),('206653','Autosomal recessive distal myopathy','Category','no definition available'),('206656','Non-dystrophic myopathy','Category','no definition available'),('206659','OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly','Clinical group','no definition available'),('206662','Inclusion myopathy','Category','no definition available'),('2067','GAPO syndrome','Malformation syndrome','A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations.'),('206701','Bulbospinal muscular atrophy','Category','no definition available'),('206704','Bulbospinal muscular atrophy of childhood','Clinical group','no definition available'),('206707','Bulbospinal muscular atrophy of adult','Clinical group','no definition available'),('206710','Generalized bulbospinal muscular atrophy','Clinical group','no definition available'),('206713','OBSOLETE: Distal spinal muscular atrophy','Clinical group','no definition available'),('2069','Gastrocutaneous syndrome','Disease','A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.'),('206953','Muscular lipidosis','Category','no definition available'),('206959','Muscular glycogenosis','Clinical group','no definition available'),('206966','Mitochondrial myopathy','Category','no definition available'),('206970','Myotonic syndrome','Category','no definition available'),('206973','Congenital myotonia','Clinical group','no definition available'),('206976','Periodic paralysis','Clinical group','no definition available'),('206979','OBSOLETE: Granulomatous myositis','Category','no definition available'),('206982','Muscular tumor','Category','no definition available'),('206985','OBSOLETE: Drug and/or toxic myopathy','Category','no definition available'),('206988','Infectious, fungal or parasitic myopathy','Category','no definition available'),('206991','Viral myositis','Disease','A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.'),('206994','Bacterial myositis','Disease','A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.'),('206997','Parasitic myositis','Category','no definition available'),('207','Crouzon disease','Malformation syndrome','Crouzon disease is characterized by craniosynostosis and facial hypoplasia.'),('2070','Eosinophilic gastroenteritis','Disease','A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.'),('207000','Fungal myositis','Disease','A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are Candida species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are Cryptococcus neoformans, Histoplasma capsulatum, Coccidioides species, or Aspergillus species, among others.'),('207003','OBSOLETE: Endocrine myopathy','Category','no definition available'),('207006','OBSOLETE: Acquired amyloid myopathy','Category','no definition available'),('207009','OBSOLETE: Acquired rod-body myopathy','Category','no definition available'),('207012','Spinal muscular atrophy associated with central nervous system anomaly','Clinical group','no definition available'),('207015','Rare hereditary disease with peripheral neuropathy','Category','no definition available'),('207018','Rare hereditary metabolic disease with peripheral neuropathy','Category','no definition available'),('207021','Rare hereditary systemic disease with peripheral neuropathy','Category','no definition available'),('207025','Rare hereditary neurologic disease with peripheral neuropathy','Category','no definition available'),('207028','Cerebellar ataxia with peripheral neuropathy','Category','no definition available'),('207031','OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy','Category','no definition available'),('207038','Acute and subacute inflammatory demyelinating polyneuropathy','Category','no definition available'),('207046','Malignant lymphoma with peripheral neuropathy','Category','no definition available'),('207049','Qualitative or quantitative protein defects in neuromuscular diseases','Category','no definition available'),('207052','Qualitative or quantitative defects of sarcoglycan','Category','no definition available'),('207060','Qualitative or quantitative defects of alpha-sarcoglycan','Category','no definition available'),('207063','Qualitative or quantitative defects of beta-sarcoglycan','Category','no definition available'),('207067','Qualitative or quantitative defects of gamma-sarcoglycan','Category','no definition available'),('207070','Qualitative or quantitative defects of delta-sarcoglycan','Category','no definition available'),('207073','Qualitative or quantitative defects of dysferlin','Category','no definition available'),('207078','Qualitative or quantitative defects of caveolin-3','Category','no definition available'),('207085','Qualitative or quantitative defects of dystrophin','Category','no definition available'),('207090','Qualitative or quantitative defects of collagen 6','Category','no definition available'),('207094','Laminin subunit alpha 2-related muscular dystrophy','Category','no definition available'),('207098','Qualitative or quantitative defects of integrin alpha-7','Category','no definition available'),('207101','Qualitative or quantitative defects of perlecan','Category','no definition available'),('207104','Qualitative or quantitative defects of calpain','Category','no definition available'),('207107','Qualitative or quantitative defects of TRIM32','Category','no definition available'),('207110','Qualitative or quantitative defects of myotubularin','Category','no definition available'),('207113','Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan','Category','no definition available'),('207119','Qualitative or quantitative defects of FKRP','Category','no definition available'),('207122','Qualitative or quantitative defects of fukutin','Category','no definition available'),('2072','Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome','Clinical subtype','Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.'),('2073','Narcolepsy type 1','Disease','Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).'),('2074','Gemignani syndrome','Malformation syndrome','Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.'),('2075','Genitopalatocardiac syndrome','Malformation syndrome','Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.'),('2076','X-linked intellectual disability-epilepsy syndrome','Clinical group','no definition available'),('2077','German syndrome','Malformation syndrome','German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ``carp``-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.'),('2078','Geroderma osteodysplastica','Malformation syndrome','Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.'),('2081','Cerebral gigantism-jaw cysts syndrome','Malformation syndrome','no definition available'),('2083','Prominent glabella-microcephaly-hypogenitalism syndrome','Malformation syndrome','Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.'),('2084','Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome','Malformation syndrome','Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).'),('208441','Bilateral parasagittal parieto-occipital polymicrogyria','Clinical subtype','no definition available'),('208444','Bilateral frontal polymicrogyria','Clinical subtype','no definition available'),('208447','Bilateral generalized polymicrogyria','Clinical subtype','no definition available'),('2085','Glaucoma-sleep apnea syndrome','Disease','Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).'),('208508','Autosomal dominant cerebellar ataxia type II','Clinical group','no definition available'),('208513','Spinocerebellar ataxia type 29','Disease','An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.'),('208524','Herpetiform pemphigus','Disease','A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).'),('208593','Genetic hypoparathyroidism','Category','no definition available'),('208596','Genetic hyperparathyroidism','Category','no definition available'),('2086','Optic pathway glioma','Disease','Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).'),('208600','OBSOLETE: Papillary fibroelastoma of the heart','Disease','no definition available'),('208650','Cryopyrin-associated periodic syndrome','Clinical group','Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).'),('2087','Glomerulonephritis-sparse hair-telangiectasis syndrome','Malformation syndrome','no definition available'),('2088','Fanconi-Bickel Syndrome','Disease','A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.'),('2089','Glycogen storage disease due to hepatic glycogen synthase deficiency','Disease','A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.'),('208974','Chronic acquired demyelinating polyneuropathy','Clinical group','no definition available'),('208978','Chronic polyradiculoneuropathy','Clinical group','no definition available'),('208981','Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies','Disease','no definition available'),('208984','Acquired sensory ganglionopathy','Category','no definition available'),('208989','Non-paraneoplastic sensory ganglionopathy','Category','no definition available'),('208994','OBSOLETE: Other ganglionopathy related to autoimmune diseases','Clinical group','no definition available'),('208999','Paraneoplastic sensory ganglionopathy','Category','no definition available'),('209','Cutis laxa','Clinical group','Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.'),('2090','GMS syndrome','Malformation syndrome','GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.'),('209004','Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy','Disease','no definition available'),('209007','Systemic inflammatory disease associated with an acquired peripheral neuropathy','Category','no definition available'),('209010','Peripheral neuropathy associated with monoclonal gammopathy','Category','no definition available'),('209013','Acquired amyloid peripheral neuropathy','Category','no definition available'),('209016','Hematological disease associated with an acquired peripheral neuropathy','Category','no definition available'),('209019','Solid tumor associated with an acquired peripheral neuropathy','Category','no definition available'),('209024','Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase','Category','no definition available'),('209027','Qualitative or quantitative defects of protein glycosyltransferase-like','Category','no definition available'),('209030','Qualitative or quantitative defects of protein O-mannosyltransferase 1','Category','no definition available'),('209033','Qualitative or quantitative defects of protein O-mannosyltransferase 2','Category','no definition available'),('209038','Qualitative or quantitative defects of myofibrillar proteins','Category','no definition available'),('209041','Qualitative or quantitative defects of desmin','Category','no definition available'),('209044','Qualitative or quantitative defects of alphaB-cristallin','Category','no definition available'),('209047','Qualitative or quantitative defects of filamin C','Category','no definition available'),('209050','Qualitative or quantitative defects of protein ZASP','Category','no definition available'),('209053','Qualitative or quantitative defects of titin','Category','no definition available'),('209056','Qualitative or quantitative defects of telethonin','Category','no definition available'),('209059','Qualitative or quantitative defects of alpha-actin','Category','no definition available'),('2091','Multinodular goiter-cystic kidney-polydactyly syndrome','Malformation syndrome','Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.'),('209182','Qualitative or quantitative defects of nebulin','Category','no definition available'),('209185','Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)','Category','no definition available'),('209188','Qualitative or quantitative defects of emerin','Category','no definition available'),('209193','Qualitative or quantitative defects of selenoprotein N1','Category','no definition available'),('209196','Qualitative or quantitative defects of plectin','Category','no definition available'),('209199','Qualitative or quantitative defects of protein SERCA1','Category','no definition available'),('2092','Focal dermal hypoplasia','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.'),('209203','Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -','Category','no definition available'),('209224','Myotilinopathy','Category','no definition available'),('209335','Autosomal dominant adult-onset proximal spinal muscular atrophy','Disease','A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.'),('209341','DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy','Etiological subtype','no definition available'),('209370','Severe neonatal-onset encephalopathy with microcephaly','Disease','Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.'),('2095','Gorlin-Chaudhry-Moss syndrome','Malformation syndrome','Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.'),('2097','Grant syndrome','Malformation syndrome','Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.'),('2098','Acromesomelic dysplasia, Grebe type','Malformation syndrome','A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.'),('209867','Autosomal dominant rhegmatogenous retinal detachment','Disease','A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.'),('209886','OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1','Disease','no definition available'),('209893','NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency','Biological anomaly','no definition available'),('2099','OBSOLETE: Grix-Blankenship-Peterson syndrome','Malformation syndrome','no definition available'),('209902','Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency','Disease','Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.'),('209905','Brain-lung-thyroid syndrome','Disease','Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).'),('209908','Childhood apraxia of speech','Disease','A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits. Initial presentation may be a severe expressive speech delay. Later, characteristic features are inconsistent errors on consonants and vowels in repeated productions of syllables or words, lengthened and disrupted coarticulatory transitions between sounds and syllables, and inappropriate prosody.'),('209916','Extraskeletal myxoid chondrosarcoma','Disease','A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.'),('209919','Idiopathic copper-associated cirrhosis','Disease','Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.'),('209932','Cone dystrophy with supernormal rod response','Disease','Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.'),('209943','IRVAN syndrome','Disease','A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.'),('209951','Autosomal recessive spastic paraplegia type 18','Disease','Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.'),('209956','Idiopathic uveal effusion syndrome','Disease','Idiopathic uveal effusion syndrome is a rare acquired eye disease characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.'),('209959','Phacoanaphylactic uveitis','Disease','no definition available'),('209964','Solitary rectal ulcer syndrome','Disease','Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.'),('209967','Episodic ataxia type 6','Disease','Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.'),('209970','Episodic ataxia type 7','Disease','Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.'),('209973','Benign nocturnal alternating hemiplegia of childhood','Disease','Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.'),('209978','Alternating hemiplegia','Clinical group','no definition available'),('209981','IRIDA syndrome','Disease','IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.'),('209989','Non-papillary transitional cell carcinoma of the bladder','Disease','no definition available'),('210','Cyclosporosis','Disease','Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.'),('2101','Grubben-de Cock-Borghgraef syndrome','Malformation syndrome','Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.'),('210110','Intermediate osteopetrosis','Malformation syndrome','Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.'),('210115','Sterile multifocal osteomyelitis with periostitis and pustulosis','Disease','Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.'),('210122','Congenital alveolar capillary dysplasia','Disease','Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.'),('210128','Urocanic aciduria','Disease','Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.'),('210133','Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome','Disease','Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.'),('210136','Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome','Disease','Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.'),('210141','Inherited congenital spastic tetraplegia','Disease','Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.'),('210144','Lethal polymalformative syndrome, Boissel type','Malformation syndrome','Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.'),('210159','Adult hepatocellular carcinoma','Disease','A rare neoplastic disease and the most common primary liver cancer of adulthood, characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse.'),('210163','Congenital lethal myopathy, Compton-North type','Disease','Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.'),('2102','GTP cyclohydrolase I deficiency','Clinical subtype','GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.'),('210272','Mal de débarquement','Clinical syndrome','Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.'),('2103','Guillain-Barré syndrome','Clinical group','A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.'),('2104','Dysmorphism-pectus carinatum-joint laxity syndrome','Malformation syndrome','Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.'),('210548','Macrocephaly-intellectual disability-autism syndrome','Disease','A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.'),('210566','Myoclonic dystonia 15','Disease','no definition available'),('210571','Dystonia 16','Disease','Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.'),('210576','Congenital temporomandibular joint ankylosis','Disease','Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.'),('210581','Temporomandibular joint anomaly','Category','no definition available'),('210584','Spindle cell hemangioma','Disease','Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis.'),('210589','Infantile hemangioma of rare localization','Clinical group','no definition available'),('210592','OBSOLETE: Giant infantile hemangioma','Disease','no definition available'),('2107','Hall-Riggs syndrome','Malformation syndrome','Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.'),('2108','Hallermann-Streiff syndrome','Malformation syndrome','Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.'),('2109','Hallermann-Streiff-like syndrome','Malformation syndrome','no definition available'),('211','Familial cylindromatosis','Clinical subtype','no definition available'),('2110','Hallux varus-preaxial polysyndactyly syndrome','Malformation syndrome','Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.'),('211017','Spinocerebellar ataxia type 30','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.'),('211037','Autosomal dominant proximal spinal muscular atrophy','Clinical group','no definition available'),('211047','Specific learning disability','Clinical group','no definition available'),('211053','Specific language disorder','Clinical group','no definition available'),('211062','Hereditary episodic ataxia','Category','Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.'),('211067','Episodic ataxia type 5','Disease','Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.'),('2111','Cystic hamartoma of lung and kidney','Disease','Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.'),('2112','OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome','Malformation syndrome','no definition available'),('211237','Rare vascular tumor','Category','no definition available'),('211240','Genetic vascular anomaly','Category','no definition available'),('211243','Simple vascular malformation','Category','no definition available'),('211247','Rare capillary malformation','Category','no definition available'),('211252','Rare venous malformation','Category','no definition available'),('211255','Rare lymphatic system anomaly','Category','no definition available'),('211266','Rare arteriovenous malformation','Category','no definition available'),('211277','Complex vascular malformation with associated anomalies','Category','no definition available'),('2113','Congenital hypothalamic hamartoma syndrome','Malformation syndrome','no definition available'),('2114','Hip dysplasia, Beukes type','Disease','Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.'),('2115','Harrod syndrome','Malformation syndrome','Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.'),('2116','Hartnup disease','Disease','A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).'),('2117','Hartsfield syndrome','Malformation syndrome','Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.'),('2118','Hawkinsinuria','Disease','Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.'),('2119','HEC syndrome','Malformation syndrome','A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.'),('212','Cystathioninuria','Disease','A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.'),('2120','OBSOLETE: Heckenlively syndrome','Malformation syndrome','no definition available'),('2122','Kaposiform hemangioendothelioma','Disease','A very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.'),('2123','Diffuse neonatal hemangiomatosis','Malformation syndrome','Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.'),('2124','Cavernous hemangiomas of face-supraumbilical midline raphe syndrome','Malformation syndrome','no definition available'),('2125','Sacral hemangiomas-multiple congenital abnormalities syndrome','Malformation syndrome','no definition available'),('2126','Solitary fibrous tumour/hemangiopericytoma','Disease','Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).'),('2128','Isolated hemihyperplasia','Morphological anomaly','Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.'),('2129','OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome','Malformation syndrome','no definition available'),('213','Cystinosis','Disease','A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.'),('2130','Hemimelia','Clinical group','Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.'),('2131','Alternating hemiplegia of childhood','Disease','A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep.'),('2132','Hemoglobin C disease','Disease','Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).'),('2133','Hemoglobin E disease','Disease','Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.'),('2134','Atypical hemolytic uremic syndrome','Disease','A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.'),('2135','Hennekam-Beemer syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.'),('213500','Ovarian cancer','Category','no definition available'),('213504','Adenocarcinoma of ovary','Disease','no definition available'),('213512','Malignant mixed Müllerian tumor of the ovary','Disease','Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.'),('213517','Familial ovarian cancer','Clinical group','no definition available'),('213524','Hereditary site-specific ovarian cancer syndrome','Disease','Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.'),('213528','Rare adenocarcinoma of the breast','Disease','no definition available'),('213531','Metaplastic carcinoma of the breast','Disease','Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.'),('213557','Salivary gland type cancer of the breast','Disease','Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.'),('213564','Rare uterine cancer','Category','no definition available'),('213569','Rare cancer of corpus uteri','Category','no definition available'),('213574','Rare variants of adenocarcinoma of the corpus uteri','Disease','no definition available'),('213589','Malignant mixed epithelial and mesenchymal tumor of corpus uteri','Clinical group','no definition available'),('2136','Hennekam syndrome','Malformation syndrome','Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.'),('213600','Adenosarcoma of the corpus uteri','Disease','A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.'),('213605','Carcinofibroma of the corpus uteri','Disease','Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.'),('213610','Carcinosarcoma of the corpus uteri','Disease','Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.'),('213615','Rhabdomyosarcoma of the corpus uteri','Disease','Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.'),('213620','Sarcoma of the corpus uteri','Clinical group','no definition available'),('213625','Leiomyosarcoma of the corpus uteri','Disease','Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.'),('213630','Primitive neuroectodermal tumor of the corpus uteri','Disease','Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.'),('2137','Autoimmune hepatitis','Disease','Chronic autoimmune hepatitis (AIH) is a rare progressive inflammatory disorder of unknown cause primarily affecting women and associated with circulating autoantibodies, elevated transaminase levels, and increased levels of immunoglobulin.'),('213711','Endometrial stromal sarcoma','Disease','no definition available'),('213716','Squamous cell carcinoma of the corpus uteri','Disease','Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.'),('213721','Undifferentiated carcinoma of the corpus uteri','Disease','Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.'),('213726','Papillary carcinoma of the corpus uteri','Disease','no definition available'),('213731','High-grade neuroendocrine carcinoma of the corpus uteri','Disease','High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.'),('213736','Low-grade neuroendocrine tumor of the corpus uteri','Disease','Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.'),('213741','OBSOLETE: Adenoid cystic carcinoma of the corpus uteri','Disease','no definition available'),('213746','Transitional cell carcinoma of the corpus uteri','Disease','A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.'),('213751','Malignant germ cell tumor of the corpus uteri','Disease','Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common.'),('213761','Rare cancer of cervix uteri','Category','no definition available'),('213767','Squamous cell carcinoma of the cervix uteri','Disease','no definition available'),('213772','Adenocarcinoma of the cervix uteri','Disease','no definition available'),('213777','High-grade neuroendocrine carcinoma of the cervix uteri','Disease','High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.'),('213782','Malignant mixed epithelial and mesenchymal tumor of cervix uteri','Clinical group','no definition available'),('213787','Carcinosarcoma of the cervix uteri','Disease','Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.'),('213792','Adenosarcoma of the cervix uteri','Disease','A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.'),('213797','Sarcoma of cervix uteri','Clinical group','no definition available'),('2138','46,XX ovotesticular disorder of sex development','Malformation syndrome','A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.'),('213802','Rhabdomyosarcoma of the cervix uteri','Disease','Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.'),('213807','Leiomyosarcoma of the cervix uteri','Disease','Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.'),('213812','Primitive neuroectodermal tumor of the cervix uteri','Disease','Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.'),('213817','Papillary carcinoma of the cervix uteri','Disease','no definition available'),('213823','Adenoid cystic carcinoma of the cervix uteri','Disease','A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.'),('213828','Adenoid basal carcinoma of the cervix uteri','Disease','A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.'),('213833','Glassy cell carcinoma of the cervix uteri','Disease','Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with `ground glass` cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).'),('213837','Malignant germ cell tumor of the cervix uteri','Disease','Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.'),('2139','Hernández-Aguirre Negrete syndrome','Malformation syndrome','Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.'),('214','Cystinuria','Disease','A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.'),('2140','Congenital diaphragmatic hernia','Morphological anomaly','Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.'),('2141','Diaphragmatic defect-limb deficiency-skull defect syndrome','Malformation syndrome','Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.'),('2143','Donnai-Barrow syndrome','Malformation syndrome','A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.'),('2145','Craniosynostosis, Herrmann-Opitz type','Malformation syndrome','Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.'),('2148','Lissencephaly type 1 due to doublecortin gene mutation','Disease','Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.'),('2149','Nodular neuronal heterotopia','Morphological anomaly','no definition available'),('215','Congenital stationary night blindness','Disease','Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.'),('2150','Hirschsprung disease-type D brachydactyly syndrome','Malformation syndrome','Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.'),('2151','Hirschsprung disease-ganglioneuroblastoma syndrome','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.'),('2152','Mowat-Wilson syndrome','Malformation syndrome','Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations.'),('2153','Hirschsprung disease-nail hypoplasia-dysmorphism syndrome','Malformation syndrome','Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.'),('2155','Hirschsprung disease-deafness-polydactyly syndrome','Malformation syndrome','Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.'),('2156','OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome','Malformation syndrome','no definition available'),('2157','Histidinemia','Disease','Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.'),('2158','Histidinuria-renal tubular defect syndrome','Disease','no definition available'),('216','Neuronal ceroid lipofuscinosis','Clinical group','Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.'),('2161','OBSOLETE: Holoacardius amorphus','Malformation syndrome','no definition available'),('2162','Holoprosencephaly','Malformation syndrome','Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.'),('2163','Holoprosencephaly-craniosynostosis syndrome','Malformation syndrome','Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.'),('216445','Prelingual non-syndromic genetic deafness','Clinical subtype','no definition available'),('216452','Postlingual non-syndromic genetic deafness','Clinical subtype','no definition available'),('2165','Holoprosencephaly-caudal dysgenesis syndrome','Malformation syndrome','Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).'),('2166','Holoprosencephaly-postaxial polydactyly syndrome','Malformation syndrome','Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).'),('216675','Transposition of the great arteries','Category','no definition available'),('216694','Congenitally corrected transposition of the great arteries','Morphological anomaly','Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.'),('2167','Holzgreve syndrome','Malformation syndrome','Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.'),('216718','Isolated congenitally uncorrected transposition of the great arteries','Clinical subtype','no definition available'),('216729','Congenitally uncorrected transposition of the great arteries with cardiac malformation','Clinical subtype','no definition available'),('216796','Osteogenesis imperfecta type 1','Clinical subtype','Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.'),('2168','Homocarnosinosis','Disease','no definition available'),('216804','Osteogenesis imperfecta type 2','Clinical subtype','Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.'),('216812','Osteogenesis imperfecta type 3','Clinical subtype','Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).'),('216820','Osteogenesis imperfecta type 4','Clinical subtype','Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).'),('216828','Osteogenesis imperfecta type 5','Clinical subtype','Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).'),('216866','Classic pantothenate kinase-associated neurodegeneration','Clinical subtype','no definition available'),('216873','Atypical pantothenate kinase-associated neurodegeneration','Clinical subtype','no definition available'),('2169','Methylcobalamin deficiency type cblE','Clinical subtype','no definition available'),('216972','Niemann-Pick disease type C, severe perinatal form','Clinical subtype','no definition available'),('216975','Niemann-Pick disease type C, severe early infantile neurologic onset','Clinical subtype','no definition available'),('216978','Niemann-Pick disease type C, late infantile neurologic onset','Clinical subtype','no definition available'),('216981','Niemann-Pick disease type C, juvenile neurologic onset','Clinical subtype','no definition available'),('216986','Niemann-Pick disease type C, adult neurologic onset','Clinical subtype','no definition available'),('216989','Autosomal dominant dystrophic epidermolysis bullosa, Pasini type','Clinical subtype','no definition available'),('217','Isolated Dandy-Walker malformation','Morphological anomaly','Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.'),('2170','Methylcobalamin deficiency type cblG','Clinical subtype','no definition available'),('217008','Bockenheimer syndrome','Malformation syndrome','no definition available'),('217012','Spinocerebellar ataxia type 31','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.'),('217017','Zechi-Ceide syndrome','Malformation syndrome','Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.'),('217023','OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly','Etiological subtype','no definition available'),('217026','Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type','Malformation syndrome','Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.'),('217031','NON RARE IN EUROPE: Obesity due to MC3R deficiency','Disease','no definition available'),('217034','Male infertility with normal virilization due to meiosis defect','Disease','no definition available'),('217046','OBSOLETE: Autosomal recessive childhood-onset cortical cataract','Clinical subtype','no definition available'),('217049','OBSOLETE: Rare non-syndromic cataract','Clinical group','no definition available'),('217052','OBSOLETE: Infantile non-syndromic cataract','Disease','no definition available'),('217055','Autosomal recessive intermediate Charcot-Marie-Tooth disease type A','Disease','A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.'),('217059','Isolated congenital digital clubbing','Morphological anomaly','Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.'),('217064','5-fluorouracil poisoning','Particular clinical situation in a disease or syndrome','5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.'),('217067','Pouchitis','Particular clinical situation in a disease or syndrome','no definition available'),('217071','Renal cell carcinoma','Clinical group','no definition available'),('217074','Rare carcinoma of pancreas','Category','no definition available'),('217080','Pulmonary fungal infections in patients deemed at risk','Particular clinical situation in a disease or syndrome','no definition available'),('217085','Mucopolysaccharidosis type 2, severe form','Clinical subtype','Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.'),('217093','Mucopolysaccharidosis type 2, attenuated form','Clinical subtype','Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.'),('2172','Microcephaly-glomerulonephritis-marfanoid habitus syndrome','Malformation syndrome','This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.'),('217253','Limbic encephalitis with NMDA receptor antibodies','Disease','A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.'),('217260','Progressive multifocal leukoencephalopathy','Disease','no definition available'),('217266','BNAR syndrome','Malformation syndrome','BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).'),('217315','Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome','Malformation syndrome','no definition available'),('217330','REN-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).'),('217335','RIN2 syndrome','Malformation syndrome','RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.'),('217340','17q21.31 microduplication syndrome','Malformation syndrome','The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.'),('217346','19q13.11 microdeletion syndrome','Malformation syndrome','The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.'),('217371','Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins','Disease','A very rare mitochondrial respiratory chain deficiency characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.'),('217377','Microduplication Xp11.22p11.23 syndrome','Malformation syndrome','Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.'),('217382','Neurodegenerative syndrome due to cerebral folate transport deficiency','Disease','no definition available'),('217385','17p13.3 microduplication syndrome','Malformation syndrome','17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.'),('217390','Combined immunodeficiency due to DOCK8 deficiency','Disease','Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).'),('217396','Progressive polyneuropathy with bilateral striatal necrosis','Disease','Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.'),('217399','Congenital insensitivity to pain with hyperhidrosis','Disease','no definition available'),('2174','Hunter-Carpenter-McDonald syndrome','Disease','no definition available'),('217407','Hereditary hypotrichosis with recurrent skin vesicles','Disease','Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.'),('217410','OBSOLETE: Circumscribed lymphatic malformation','Clinical subtype','no definition available'),('217454','Rare hereditary thrombophilia','Clinical group','no definition available'),('217467','Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency','Disease','Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.'),('217557','Pulmonary interstitial glycogenosis','Disease','Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).'),('217560','Neuroendocrine cell hyperplasia of infancy','Disease','Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.'),('217563','Neonatal acute respiratory distress due to SP-B deficiency','Disease','no definition available'),('217566','Chronic respiratory distress with surfactant metabolism deficiency','Disease','Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.'),('217569','Hypertrophic cardiomyopathy','Category','no definition available'),('217572','Glycogen storage disease with hypertrophic cardiomyopathy','Category','no definition available'),('217581','Lysosomal disease with hypertrophic cardiomyopathy','Category','no definition available'),('217587','Mitochondrial disease with hypertrophic cardiomyopathy','Category','no definition available'),('217591','Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy','Category','no definition available'),('217595','Syndrome associated with hypertrophic cardiomyopathy','Category','no definition available'),('217598','Non-familial hypertrophic cardiomyopathy','Category','no definition available'),('2176','Infantile systemic hyalinosis','Clinical subtype','Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.'),('217601','Hypertrophic cardiomyopathy due to intensive athletic training','Disease','no definition available'),('217604','Dilated cardiomyopathy','Category','no definition available'),('217607','Familial dilated cardiomyopathy','Category','no definition available'),('217610','Neuromuscular disease with dilated cardiomyopathy','Category','no definition available'),('217613','Mitochondrial disease with dilated cardiomyopathy','Category','no definition available'),('217616','Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy','Category','no definition available'),('217619','Syndrome associated with dilated cardiomyopathy','Category','no definition available'),('217622','Sensorineural deafness with dilated cardiomyopathy','Disease','Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.'),('217629','Non-familial dilated cardiomyopathy','Category','no definition available'),('217632','Restrictive cardiomyopathy','Category','no definition available'),('217635','Familial restrictive cardiomyopathy','Category','no definition available'),('217638','Lysosomal disease with restrictive cardiomyopathy','Category','no definition available'),('217656','Familial isolated arrhythmogenic right ventricular dysplasia','Disease','Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.'),('217678','Unclassified cardiomyopathy','Category','no definition available'),('2177','Hydranencephaly','Malformation syndrome','A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.'),('217720','Non-familial restrictive cardiomyopathy','Category','no definition available'),('218','Darier disease','Disease','Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.'),('2180','Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome','Malformation syndrome','This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.'),('2181','Hydrocephaly-tall stature-joint laxity syndrome','Malformation syndrome','Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.'),('2182','Hydrocephalus with stenosis of the aqueduct of Sylvius','Clinical subtype','Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.'),('2183','Hydrocephalus-obesity-hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.'),('2184','Hydrocephaly-low insertion umbilicus syndrome','Malformation syndrome','no definition available'),('218432','OBSOLETE: Familial restrictive cardiomyopathy type 3','Etiological subtype','no definition available'),('218436','Rare cardiac rhythm disease','Category','no definition available'),('218439','Non-genetic cardiac rhythm disease','Category','no definition available'),('2185','Congenital hydrocephalus','Malformation syndrome','A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.'),('2186','Hydrocephalus-blue sclerae-nephropathy syndrome','Malformation syndrome','Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.'),('2189','Hydrolethalus','Malformation syndrome','Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.'),('219','Delta-sarcoglycan-related limb-girdle muscular dystrophy R6','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.'),('2190','OBSOLETE: Congenital hydronephrosis','Morphological anomaly','no definition available'),('2194','Anti-HLA hyperimmunization','Disease','An increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.'),('2195','Dicarboxylic aminoaciduria','Disease','Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.'),('2196','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement','Disease','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.'),('2197','Idiopathic hypercalciuria','Disease','no definition available'),('2198','Palmoplantar keratoderma-esophageal carcinoma syndrome','Disease','no definition available'),('2199','Epidermolytic palmoplantar keratoderma','Disease','no definition available'),('22','Succinic semialdehyde dehydrogenase deficiency','Disease','A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.'),('220','Denys-Drash syndrome','Disease','A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.'),('2200','Focal palmoplantar and gingival keratoderma','Disease','Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.'),('2201','Palmoplantar keratoderma-spastic paralysis syndrome','Disease','A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.'),('2202','Palmoplantar keratoderma-deafness syndrome','Disease','Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.'),('220295','Xeroderma pigmentosum-Cockayne syndrome complex','Disease','Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).'),('2203','Hyperlysinemia','Disease','Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.'),('220386','Semilobar holoprosencephaly','Clinical subtype','Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.'),('220393','Diffuse cutaneous systemic sclerosis','Clinical subtype','Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).'),('2204','Dysplastic cortical hyperostosis','Malformation syndrome','Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.'),('220402','Limited cutaneous systemic sclerosis','Clinical subtype','Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud`s phenomenon with skin fibrosis limited to the hands, face, feet and forearms.'),('220407','Limited systemic sclerosis','Clinical subtype','Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.'),('220436','Quebec platelet disorder','Disease','Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.'),('220443','Bleeding diathesis due to thromboxane synthesis deficiency','Disease','Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).'),('220448','Macrothrombocytopenia with mitral valve insufficiency','Disease','Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.'),('220452','Isolated hereditary giant platelet disorder','Category','no definition available'),('220460','Attenuated familial adenomatous polyposis','Disease','A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.'),('220465','Laron syndrome with immunodeficiency','Disease','This syndrome is characterized by severe growth retardation associated with immunodeficiency.'),('220489','Rare hereditary hemochromatosis','Category','Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.'),('220493','Joubert syndrome with ocular defect','Malformation syndrome','Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.'),('220497','Joubert syndrome with renal defect','Malformation syndrome','Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.'),('2206','Ankylosing vertebral hyperostosis with tylosis','Malformation syndrome','A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.'),('2207','Familial primary hyperparathyroidism','Clinical group','no definition available'),('2209','Maternal phenylketonuria','Malformation syndrome','A rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.'),('221','Dermatomyositis','Disease','A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.'),('221008','Rothmund-Thomson syndrome type 1','Clinical subtype','Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.'),('221016','Rothmund-Thomson syndrome type 2','Clinical subtype','Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.'),('221039','Hereditary sclerosing poikiloderma, Weary type','Disease','no definition available'),('221043','Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome','Disease','Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.'),('221046','Poikiloderma with neutropenia','Disease','Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.'),('221054','Acrocephalopolydactyly','Malformation syndrome','An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.'),('221061','Familial cerebral cavernous malformation','Malformation syndrome','A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.'),('221074','Marchiafava-Bignami disease','Disease','A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.'),('221078','Combined hyperactive dysfunction syndrome of the cranial nerves','Disease','Combined hyperactive dysfunction syndrome of the cranial nerves is a rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.'),('221083','Hemifacial spasm','Disease','A rare acquired peripheral neuropathy characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses.'),('221091','Trigeminal neuralgia','Disease','A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.'),('221098','Glossopharyngeal neuralgia','Disease','A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia.'),('2211','Hypertelorism-hypospadias-polysyndactyly syndrome','Malformation syndrome','Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.'),('221106','Isolated facial myokymia','Disease','no definition available'),('221109','Cranial neuralgia','Clinical group','no definition available'),('221114','Acquired peripheral movement disorder','Category','no definition available'),('221117','Gerstmann syndrome','Disease','Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.'),('221120','Pseudoaminopterin syndrome','Malformation syndrome','Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.'),('221126','Fowler vasculopaty','Malformation syndrome','A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.'),('221139','Combined immunodeficiency with faciooculoskeletal anomalies','Disease','Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).'),('221142','Confetti-like macular atrophy','Disease','A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis.'),('221145','Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies','Malformation syndrome','A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).'),('221150','Pitt-Hopkins-like syndrome','Disease','Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.'),('2213','Hypertelorism-microtia-facial clefting syndrome','Malformation syndrome','Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.'),('2215','Multiple pterygium-malignant hyperthermia syndrome','Malformation syndrome','An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.'),('2216','Maternal hyperthermia-induced birth defects','Malformation syndrome','Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.'),('2218','Cervical hypertrichosis-peripheral neuropathy syndrome','Disease','Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.'),('222','Erosive pustular dermatosis of the scalp','Disease','Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.'),('2220','Hypertrichosis cubiti','Malformation syndrome','Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.'),('2221','Acquired hypertrichosis lanuginosa','Disease','A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.'),('2222','Hypertrichosis lanuginosa congenita','Disease','Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.'),('2224','Hypertryptophanemia','Disease','Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.'),('222628','Hereditary poikiloderma','Category','no definition available'),('2227','NON RARE IN EUROPE: Hypodontia','Morphological anomaly','no definition available'),('2228','Hypodontia-dysplasia of nails syndrome','Malformation syndrome','Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.'),('2229','Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).'),('223','Nephrogenic diabetes insipidus','Disease','A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.'),('2230','Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome','Disease','This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.'),('2232','Primary hypergonadotropic hypogonadism-partial alopecia syndrome','Disease','This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.'),('2233','Hypogonadism-mitral valve prolapse-intellectual disability syndrome','Disease','This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.'),('2234','Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome','Malformation syndrome','This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.'),('2235','Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome','Disease','This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.'),('2237','Hypoparathyroidism-sensorineural deafness-renal disease syndrome','Malformation syndrome','Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).'),('223713','Mitochondrial oxidative phosphorylation disorder','Category','no definition available'),('223727','Bone sarcoma','Clinical group','no definition available'),('223735','Lymphoma','Category','no definition available'),('2238','Familial isolated hypoparathyroidism','Disease','Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.'),('2239','Familial isolated hypoparathyroidism due to agenesis of parathyroid gland','Clinical subtype','X-linked recessive hypoparathyroidism (XLHPT) is a very rare cause of hypoparathyroidism. It has been reported in two multigeneration families from Missouri. Affected males suffer from true neonatal idiopathic hypoparathyroidism leading to severe hypocalcemia with undetectable parathyroid hormone levels and epilepsy. They are also sterile. Carrier females are normocalcemic and asymptomatic. XLHPT is caused by congenital parathyroid gland agenesis. The XLHPT locus has been mapped to chromosome Xq26-q27, in a 1.5 Mb interval flanked by markers F9 and DXS984. Neonatal onset and parathyroid agenesis found at autopsy in one of the patients suggest that the gene involved in XLHPT plays a role in parathyroid gland development.'),('224','Neonatal diabetes mellitus','Category','Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.'),('2241','Megacystis-microcolon-intestinal hypoperistalsis syndrome','Malformation syndrome','Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.'),('2243','Hypopituitarism-micropenis-cleft lip/palate syndrome','Malformation syndrome','no definition available'),('2244','Hypopituitarism-microphthalmia syndrome','Malformation syndrome','no definition available'),('2245','OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome','Malformation syndrome','no definition available'),('2246','Cerebellar hypoplasia-tapetoretinal degeneration syndrome','Malformation syndrome','Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.'),('2248','Hypoplastic left heart syndrome','Morphological anomaly','A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.'),('2249','Ulna hypoplasia-intellectual disability syndrome','Malformation syndrome','Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.'),('225','Maternally-inherited diabetes and deafness','Disease','Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.'),('2250','Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome','Disease','This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.'),('2251','Thumb deformity-alopecia-pigmentation anomaly syndrome','Malformation syndrome','Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of `raindrop` depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.'),('225123','Hemochromatosis type 3','Disease','Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.'),('225147','Sporadic infantile bilateral striatal necrosis','Disease','Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.'),('225154','Familial infantile bilateral striatal necrosis','Disease','Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.'),('2252','Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome','Malformation syndrome','Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.'),('2253','Foveal hypoplasia-presenile cataract syndrome','Disease','Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.'),('2254','Pontocerebellar hypoplasia type 1','Malformation syndrome','Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman`s disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.'),('2255','Pancreatic hypoplasia-diabetes-congenital heart disease syndrome','Disease','Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).'),('2256','Fibulo-ulnar hypoplasia-renal anomalies syndrome','Malformation syndrome','Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.'),('225681','Lysosomal disease with epilepsy','Category','no definition available'),('225686','Peroxisomal disease with epilepsy','Category','no definition available'),('225689','Amino acid or protein metabolism disease with epilepsy','Category','no definition available'),('225692','Metal transport or utilization disorder with epilepsy','Category','no definition available'),('225696','Energy metabolism disorder with epilepsy','Category','no definition available'),('2257','Primary pulmonary hypoplasia','Malformation syndrome','Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.'),('225700','Mitochondrial disease with epilepsy','Category','no definition available'),('225703','Mitochondrial disease with peripheral neuropathy','Category','no definition available'),('225707','Metabolic neurotransmission anomaly with epilepsy','Category','no definition available'),('225710','Sterol metabolism disorder with epilepsy','Category','no definition available'),('225713','Other metabolic disease with epilepsy','Category','no definition available'),('2258','Congenital unilateral pulmonary hypoplasia','Disease','no definition available'),('225968','OBSOLETE: Inherited predisposition to essential thrombocythemia','Disease','no definition available'),('226','Dihydropteridine reductase deficiency','Clinical subtype','Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.'),('2260','Oligomeganephronia','Morphological anomaly','Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.'),('2261','Hypospadias-intellectual disability, Goldblatt type syndrome','Malformation syndrome','Hypospasdias – intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.'),('226292','Permanent congenital hypothyroidism','Category','Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.'),('226295','Primary congenital hypothyroidism','Clinical group','Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.'),('226298','Central congenital hypothyroidism','Clinical group','Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.'),('226307','Hypothyroidism due to deficient transcription factors involved in pituitary development or function','Disease','Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.'),('226310','Peripheral hypothyroidism','Clinical group','Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.'),('226313','Congenital hypothyroidism due to maternal intake of antithyroid drugs','Disease','Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.'),('226316','Genetic transient congenital hypothyroidism','Disease','Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.'),('2266','Hypotrichosis-intellectual disability, Lopes type','Disease','A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.'),('2267','OBSOLETE: Ichthyosis-cheek-eyebrow syndrome','Disease','no definition available'),('2268','ICF syndrome','Malformation syndrome','The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.'),('2269','Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome','Disease','Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.'),('227','Diphallia','Morphological anomaly','A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.'),('2271','Congenital ichthyosis-microcephalus-tetraplegia syndrome','Disease','no definition available'),('2272','Ichthyosis-oral and digital anomalies syndrome','Malformation syndrome','Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.'),('2273','Ichthyosis follicularis-alopecia-photophobia syndrome','Disease','Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.'),('2274','Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome','Disease','Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.'),('227510','Multiple system atrophy, cerebellar type','Clinical subtype','Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).'),('227535','Hereditary breast cancer','Disease','no definition available'),('227786','OBSOLETE: Familial flecked retinopathy','Category','no definition available'),('227796','Fundus albipunctatus','Disease','Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.'),('2278','Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome','Malformation syndrome','Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.'),('227972','Toxic oil syndrome','Disease','Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.'),('227976','Autosomal recessive optic atrophy, OPA7 type','Disease','A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.'),('227982','Autoimmune polyendocrinopathy type 3','Disease','A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.'),('227990','Autoimmune polyendocrinopathy type 4','Disease','no definition available'),('228000','Idiopathic CD4 lymphocytopenia','Biological anomaly','Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.'),('228003','Severe combined immunodeficiency due to CORO1A deficiency','Disease','no definition available'),('228012','Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome','Disease','Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.'),('228113','Anal fistula','Particular clinical situation in a disease or syndrome','no definition available'),('228116','Hughes-Stovin syndrome','Disease','Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet`s disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.'),('228119','Fusariosis','Disease','Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.'),('228123','Coccidioidomycosis','Disease','Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and C. posadasii, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.'),('228140','Idiopathic ventricular fibrillation, non Brugada type','Disease','A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.'),('228145','Multiple sclerosis variant','Category','no definition available'),('228157','Marburg acute multiple sclerosis','Disease','Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.'),('228165','Baló concentric sclerosis','Disease','A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.'),('228169','Autosomal dominant striatal neurodegeneration','Disease','An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.'),('228174','Autosomal dominant Charcot-Marie-Tooth disease type 2N','Disease','A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.'),('228179','Autosomal dominant Charcot-Marie-Tooth disease type 2M','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.'),('228184','Heart-hand syndrome','Category','Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).'),('228190','Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome','Malformation syndrome','Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.'),('2282','Dysmorphism-short stature-deafness-disorder of sex development syndrome','Malformation syndrome','Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.'),('228215','Genetic dermis elastic tissue disorder','Category','no definition available'),('228218','Acquired dermis elastic tissue disorder','Category','no definition available'),('228221','Acquired dermis elastic tissue disorder with decreased elastic tissue','Category','no definition available'),('228224','Acquired dermis elastic tissue disorder with increased elastic tissue','Category','no definition available'),('228227','Late-onset focal dermal elastosis','Disease','Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.'),('228236','Linear focal elastosis','Disease','Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.'),('228240','Elastoderma','Disease','An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically ocurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.'),('228243','Elastofibroma dorsi','Disease','Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.'),('228247','Acquired pseudoxanthoma elasticum','Disease','no definition available'),('228254','Elastoma','Disease','A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.'),('228264','Papular elastorrhexis','Disease','A rare, acquired, dermis elastic tissue disorder characterized by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis.'),('228272','Primary anetoderma','Disease','Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.'),('228277','Familial anetoderma','Disease','Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.'),('228285','Acquired cutis laxa','Disease','no definition available'),('228290','White fibrous papulosis of the neck','Disease','White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.'),('228293','Pseudoxanthoma elasticum-like papillary dermal elastolysis','Disease','Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.'),('228299','Mid-dermal elastolysis','Disease','A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.'),('228302','Carnitine palmitoyl transferase II deficiency, myopathic form','Clinical subtype','The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).'),('228305','Carnitine palmitoyl transferase II deficiency, severe infantile form','Clinical subtype','The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.'),('228308','Carnitine palmitoyl transferase II deficiency, neonatal form','Clinical subtype','The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.'),('228312','Autoimmune hemolytic anemia, cold type','Clinical group','Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms).'),('228315','OBSOLETE: Idiopathic hypersomnia with long sleep time','Clinical subtype','no definition available'),('228318','OBSOLETE: Idiopathic hypersomnia without long sleep time','Clinical subtype','no definition available'),('228329','CLN1 disease','Etiological subtype','no definition available'),('228337','CLN10 disease','Etiological subtype','no definition available'),('228340','CLN4A disease','Etiological subtype','no definition available'),('228343','CLN4B disease','Etiological subtype','no definition available'),('228346','CLN3 disease','Etiological subtype','no definition available'),('228349','CLN2 disease','Etiological subtype','no definition available'),('228354','CLN8 disease','Etiological subtype','no definition available'),('228357','CLN9 disease','Etiological subtype','no definition available'),('228360','CLN5 disease','Etiological subtype','no definition available'),('228363','CLN6 disease','Etiological subtype','no definition available'),('228366','CLN7 disease','Etiological subtype','no definition available'),('228371','Foodborne botulism','Clinical subtype','Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.'),('228374','Charcot-Marie-Tooth disease type 2B5','Disease','A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.'),('228379','Virus-associated trichodysplasia spinulosa','Disease','Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.'),('228384','5q14.3 microdeletion syndrome','Malformation syndrome','The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.'),('228387','Spondylo-megaepiphyseal-metaphyseal dysplasia','Disease','Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.'),('228390','Frontonasal dysplasia-alopecia-genital anomalies syndrome','Malformation syndrome','Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.'),('228396','Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome','Malformation syndrome','Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.'),('228399','8q12 microduplication syndrome','Malformation syndrome','The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).'),('2284','OBSOLETE: Primary T cell immunodeficiency','Disease','no definition available'),('228402','2q23.1 microdeletion syndrome','Malformation syndrome','The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.'),('228407','Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome','Malformation syndrome','no definition available'),('228410','Polyvalvular heart disease syndrome','Malformation syndrome','Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.'),('228415','5q35 microduplication syndrome','Malformation syndrome','The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.'),('228418','OBSOLETE: Microcephaly-seizures-developmental delay syndrome','Disease','no definition available'),('228423','Monocytopenia with susceptibility to infections','Disease','Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.'),('228426','Syndromic multisystem autoimmune disease due to Itch deficiency','Disease','Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.'),('228429','Generalized congenital lipodystrophy with myopathy','Disease','no definition available'),('2285','Primary basilar invagination','Morphological anomaly','Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.'),('2286','OBSOLETE: Solitary median maxillary central incisor syndrome','Clinical subtype','no definition available'),('2287','Fused mandibular incisors','Morphological anomaly','Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.'),('2289','Neuronal intranuclear inclusion disease','Disease','Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.'),('229','Familial aortic dissection','Disease','Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.'),('2290','Microvillus inclusion disease','Disease','Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.'),('2291','Congenital velopharyngeal incompetence','Morphological anomaly','no definition available'),('2292','Congenital bowing of long bones','Malformation syndrome','Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.'),('2295','Familial articular hypermobility syndrome','Disease','A rare, genetic, dermis elastic tissue disease characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.'),('2297','Insulin-resistance syndrome type A','Disease','Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.'),('229717','Isolated agammaglobulinemia','Disease','Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.'),('229720','Syndromic agammaglobulinemia','Category','no definition available'),('2298','Insulin-resistance syndrome type B','Disease','A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.'),('2299','Aortic arch interruption','Morphological anomaly','A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.'),('23','Argininosuccinic aciduria','Disease','A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.'),('230','Dopamine beta-hydroxylase deficiency','Disease','Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.'),('2300','Multiple intestinal atresia','Morphological anomaly','Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.'),('2301','Congenital short bowel syndrome','Morphological anomaly','Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.'),('2302','Asbestos intoxication','Disease','A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.'),('2305','Isotretinoin syndrome','Malformation syndrome','Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.'),('2306','Isotretinoin-like syndrome','Malformation syndrome','Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.'),('2307','IVIC syndrome','Malformation syndrome','IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.'),('2308','Jacobsen syndrome','Malformation syndrome','A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.'),('230800','Toxin-mediated infectious botulism','Clinical subtype','Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).'),('230839','Classical-like Ehlers-Danlos syndrome type 1','Disease','Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.'),('230845','Vascular-like classical Ehlers-Danlos syndrome','Disease','no definition available'),('230851','Cardiac-valvular Ehlers-Danlos syndrome','Disease','A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.'),('230857','Ehlers-Danlos/osteogenesis imperfecta syndrome','Disease','A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.'),('2309','Pachyonychia congenita','Disease','Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.'),('231','Dracunculiasis','Disease','Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).'),('2310','Absence deformity of leg-cataract syndrome','Malformation syndrome','A very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.'),('231013','Congenital trigeminal anesthesia','Disease','Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).'),('231031','Erythema palmare hereditarium','Disease','Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.'),('231040','Familial generalized lentiginosis','Disease','Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.'),('231080','High-grade dysplasia in patients with Barrett esophagus','Particular clinical situation in a disease or syndrome','no definition available'),('2311','Autosomal recessive spondylocostal dysostosis','Malformation syndrome','A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.'),('231108','Familial rhabdoid tumor','Clinical subtype','no definition available'),('231111','Drug-induced lupus erythematosus','Disease','A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydrazaline are the drugs most frequently implicated.'),('231117','Beckwith-Wiedemann syndrome due to imprinting defect of 11p15','Etiological subtype','no definition available'),('231120','Beckwith-Wiedemann syndrome due to CDKN1C mutation','Etiological subtype','no definition available'),('231127','Beckwith-Wiedemann syndrome due to 11p15 microdeletion','Etiological subtype','no definition available'),('231130','Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion','Etiological subtype','no definition available'),('231137','Silver-Russell syndrome due to 7p11.2p13 microduplication','Etiological subtype','no definition available'),('231140','Silver-Russell syndrome due to an imprinting defect of 11p15','Etiological subtype','no definition available'),('231144','Silver-Russell syndrome due to 11p15 microduplication','Etiological subtype','no definition available'),('231147','Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11','Etiological subtype','no definition available'),('231154','Combined immunodeficiency due to partial RAG1 deficiency','Disease','Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.'),('231160','Familial cerebral saccular aneurysm','Disease','A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.'),('231169','Usher syndrome type 1','Clinical subtype','no definition available'),('231178','Usher syndrome type 2','Clinical subtype','no definition available'),('231183','Usher syndrome type 3','Clinical subtype','no definition available'),('2312','Transient familial neonatal hyperbilirubinemia','Disease','A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.'),('231205','OBSOLETE: Common variable immunodeficiency without known genetic defect','Etiological subtype','no definition available'),('231214','Beta-thalassemia major','Clinical subtype','Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.'),('231222','Beta-thalassemia intermedia','Clinical subtype','Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.'),('231226','Dominant beta-thalassemia','Clinical subtype','Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.'),('231230','Beta-thalassemia associated with another hemoglobin anomaly','Category','Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].'),('231237','Delta-beta-thalassemia','Disease','Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.'),('231242','Hemoglobin C-beta-thalassemia syndrome','Disease','Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.'),('231249','Hemoglobin E-beta-thalassemia syndrome','Disease','Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).'),('231256','Beta-thalassemia-trichothiodystrophy syndrome','Disease','no definition available'),('231386','Beta-thalassemia with other manifestations','Category','Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.'),('231393','Beta-thalassemia-X-linked thrombocytopenia syndrome','Disease','Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.'),('2314','Autosomal dominant hyper-IgE syndrome','Disease','A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.'),('231401','Alpha-thalassemia-myelodysplastic syndrome','Disease','An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).'),('231413','Variant of Guillain-Barré syndrome','Category','no definition available'),('231416','Regional variant of Guillain-Barré syndrome','Clinical group','no definition available'),('231419','Functional variant of Guillain-Barré syndrome','Clinical group','no definition available'),('231426','Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome','Disease','Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.'),('231445','Paraparetic variant of Guillain-Barré syndrome','Disease','Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.'),('231450','Acute pure sensory neuropathy','Disease','A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.'),('231457','Acute pandysautonomia','Disease','A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.'),('231466','Acute sensory ataxic neuropathy','Disease','A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.'),('2315','Johanson-Blizzard syndrome','Malformation syndrome','Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.'),('231500','Hermansky-Pudlak syndrome with pulmonary fibrosis','Clinical subtype','Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.'),('231512','Hermansky-Pudlak syndrome without pulmonary fibrosis','Clinical subtype','Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.'),('231531','Hermansky-Pudlak syndrome type 7','Clinical subtype','no definition available'),('231537','Hermansky-Pudlak syndrome type 8','Clinical subtype','no definition available'),('231556','Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome','Disease','Late-onset localized jonctional epidermolysis bullosa-intellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.'),('231568','Generalized dominant dystrophic epidermolysis bullosa','Disease','Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.'),('231573','Congenital erosive and vesicular dermatosis','Disease','Congenital erosive and vesicular dermatosis is a rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.'),('231580','Primary unilateral adrenal hyperplasia','Disease','Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.'),('2316','Johnson neuroectodermal syndrome','Malformation syndrome','Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.'),('231625','Adrenocortical carcinoma with pure aldosterone hypersecretion','Disease','A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.'),('231632','Ectopic aldosterone-producing tumor','Disease','Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.'),('231637','Rare surgically correctable form of primary aldosteronism','Category','Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.'),('231641','Rare non surgically correctable form of primary aldosteronism','Category','no definition available'),('231662','Isolated growth hormone deficiency type IA','Clinical subtype','no definition available'),('231671','Isolated growth hormone deficiency type IB','Clinical subtype','no definition available'),('231679','Isolated growth hormone deficiency type II','Clinical subtype','no definition available'),('231692','Isolated growth hormone deficiency type III','Clinical subtype','no definition available'),('231720','Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome','Malformation syndrome','Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.'),('231736','Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome','Malformation syndrome','Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.'),('231742','Epibulbar lipodermoid-preauricular appendage-polythelia syndrome','Malformation syndrome','Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.'),('2318','Joubert syndrome with oculorenal defect','Malformation syndrome','A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.'),('2319','Juberg-Hayward syndrome','Malformation syndrome','Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.'),('232','Sickle cell anemia','Disease','Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.'),('232035','Infectious embryofetopathy','Category','no definition available'),('2321','Jung syndrome','Malformation syndrome','A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.'),('2322','Kabuki syndrome','Malformation syndrome','Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.'),('232288','Alpha-thalassemia-related diseases','Category','This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*'),('2323','Sanjad-Sakati syndrome','Malformation syndrome','Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.'),('2324','Osteopenia-intellectual disability-sparse hair syndrome','Malformation syndrome','Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.'),('2325','Epidermolysis bullosa simplex with anodontia/hypodontia','Malformation syndrome','no definition available'),('2326','Kallmann syndrome-heart disease syndrome','Malformation syndrome','Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.'),('2328','Kapur-Toriello syndrome','Malformation syndrome','Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.'),('2329','Karsch-Neugebauer syndrome','Malformation syndrome','Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.'),('233','Duane retraction syndrome','Malformation syndrome','A congenital form of strabismus characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction. It is an ocular congenital cranial dysinnervation disorder (CCDD) and can lead to amblyopia.'),('2330','Kasabach-Merritt syndrome','Disease','Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.'),('2331','Kawasaki disease','Disease','A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.'),('2332','KBG syndrome','Malformation syndrome','KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.'),('2333','Kenny-Caffey syndrome','Malformation syndrome','A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additonal manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.'),('2334','Autosomal dominant keratitis','Disease','Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.'),('2335','NON RARE IN EUROPE: Isolated keratoconus','Disease','no definition available'),('233655','Rare genetic vascular disease','Category','no definition available'),('2337','Non-epidermolytic palmoplantar keratoderma','Disease','A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes.'),('2338','Isolated punctate palmoplantar keratoderma','Clinical group','no definition available'),('2339','Keratosis follicularis-dwarfism-cerebral atrophy syndrome','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.'),('234','Dubin-Johnson syndrome','Disease','Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.'),('2340','Keratosis follicularis spinulosa decalvans','Disease','Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.'),('2342','Haim-Munk syndrome','Disease','Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.'),('2343','Isolated cloverleaf skull syndrome','Morphological anomaly','A form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.'),('2345','Isolated Klippel-Feil syndrome','Malformation syndrome','Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.'),('2346','Angioosteohypertrophic syndrome','Disease','A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.'),('2347','Lethal Kniest-like dysplasia','Malformation syndrome','A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a `Swiss cheese` appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.'),('2348','Familial partial lipodystrophy, Dunnigan type','Disease','A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.'),('2349','Muscular pseudohypertrophy-hypothyroidism syndrome','Disease','Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).'),('235','Dubowitz syndrome','Malformation syndrome','Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.'),('2351','Kousseff syndrome','Malformation syndrome','Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11 (see this term).'),('2352','Kozlowski-Brown-Hardwick syndrome','Disease','no definition available'),('2353','Schilbach-Rott syndrome','Malformation syndrome','Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.'),('2355','Kumar-Levick syndrome','Malformation syndrome','no definition available'),('2356','Arachnoid cyst','Morphological anomaly','A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.'),('2357','Bronchogenic cyst','Morphological anomaly','Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.'),('235832','Congenital vascular bone syndrome','Clinical group','no definition available'),('235835','OBSOLETE: Congenital vascular bone syndrome with limb overgrowth','Clinical group','no definition available'),('235838','OBSOLETE: Congenital vascular bone syndrome with limb shortening','Clinical group','no definition available'),('235936','Familial hyperaldosteronism','Clinical group','Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.'),('236','Trisomy 9p','Malformation syndrome','Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.'),('2363','Lacrimoauriculodentodigital syndrome','Malformation syndrome','Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.'),('2364','Glycogen storage disease due to lactate dehydrogenase deficiency','Disease','no definition available'),('2368','Gastroschisis','Morphological anomaly','A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.'),('2369','Limb body wall complex','Malformation syndrome','Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.'),('237','Duplication of urethra','Morphological anomaly','Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.'),('2370','Larsen-like osseous dysplasia-short stature syndrome','Malformation syndrome','Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.'),('2371','Lethal Larsen-like syndrome','Malformation syndrome','Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.'),('2372','Laryngocele','Malformation syndrome','A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected.'),('2373','Congenital laryngomalacia','Malformation syndrome','A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.'),('2374','Congenital laryngeal web','Malformation syndrome','A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.'),('2375','Laryngeal abductor paralysis-intellectual disability syndrome','Malformation syndrome','Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.'),('2377','Laurence-Moon syndrome','Malformation syndrome','A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.'),('2378','Laurin-Sandrow syndrome','Malformation syndrome','Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.'),('2379','Early-onset parkinsonism-intellectual disability syndrome','Disease','A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.'),('238','Digestive duplication','Morphological anomaly','Digestive duplication is a rare developmental defect during embryogenesis characterized by cystic, spherical or tubular structures (communicating or not with the lumen), located on a segment of the digestive tract (from the mouth cavity to anus), and constituted of a wall with a double smooth muscle layer and a digestive mucosa. The malformation may be asymptomatic or manifest with various signs including abdominal mass, abdominal pain, transit troubles or subocclusive syndrome. Mild digestive hemorrhage, perforation, pancreatitis and neonatal respiratory distress are possible complications.'),('2380','Legg-Calvé-Perthes disease','Disease','A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.'),('2382','Lennox-Gastaut syndrome','Disease','A rare syndrome that belongs to the group of severe childhood epileptic encephalopathies.'),('238269','AApoAII amyloidosis','Clinical subtype','no definition available'),('238305','Infundibulo-neurohypophysitis','Disease','Infundibulo-neurohypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.'),('238329','Severe X-linked mitochondrial encephalomyopathy','Disease','Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.'),('238446','15q11q13 microduplication syndrome','Malformation syndrome','The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.'),('238455','Infantile dystonia-parkinsonism','Disease','Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.'),('238459','SLC35A1-CDG','Disease','SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.'),('238468','Hypohidrotic ectodermal dysplasia','Disease','Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms).'),('238475','Familial hypercholanemia','Disease','Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.'),('238505','Combined immunodeficiency due to CD27 deficiency','Disease','A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.'),('238510','Lymphoproliferative syndrome','Clinical group','no definition available'),('238517','Hypotonia-cystinuria type 1 syndrome','Clinical group','no definition available'),('238523','Atypical hypotonia-cystinuria syndrome','Disease','A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).'),('238536','Congenital secondary polycythemia','Category','no definition available'),('238547','Acquired secondary polycythemia','Category','no definition available'),('238557','Chuvash erythrocytosis','Disease','Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.'),('238569','Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome','Disease','A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.'),('238578','Familial clubfoot due to 17q23.1q23.2 microduplication','Etiological subtype','17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.'),('238583','Hyperphenylalaninemia due to tetrahydrobiopterin deficiency','Disease','Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.'),('238593','IgG4-related mesenteritis','Disease','Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).'),('2386','Leukoencephalopathy-palmoplantar keratoderma syndrome','Disease','Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.'),('238606','Primary orthostatic tremor','Disease','Primary orthostatic tremor (POT), or ``shaky legs syndrome``, is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.'),('238613','Beckwith-Wiedemann syndrome due to NSD1 mutation','Etiological subtype','no definition available'),('238616','NON RARE IN EUROPE: Alzheimer disease','Disease','no definition available'),('238621','Ileal pouch anal anastomosis related faecal incontinence','Particular clinical situation in a disease or syndrome','no definition available'),('238624','Idiopathic intracranial hypertension','Disease','Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.'),('238637','Megacystis-megaureter syndrome','Disease','Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.'),('238642','Primary megaureter, adult-onset form','Clinical subtype','no definition available'),('238646','Congenital primary megaureter, obstructed form','Clinical subtype','no definition available'),('238650','Congenital primary megaureter, refluxing form','Clinical subtype','no definition available'),('238654','Congenital primary megaureter, nonrefluxing and unobstructed form','Clinical subtype','no definition available'),('238666','Isolated congenital hypogonadotropic hypogonadism','Disease','A rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).'),('238670','Isolated thyrotropin-releasing hormone deficiency','Disease','no definition available'),('238688','Neonatal iodine exposure','Disease','Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.'),('238691','OBSOLETE: Congenital liver hemangioma','Disease','no definition available'),('238696','Transient congenital hypothyroidism due to maternal factor','Category','no definition available'),('238699','Transient congenital hypothyroidism due to neonatal factor','Category','no definition available'),('2387','Leukonychia totalis','Disease','Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.'),('238722','Familial congenital mirror movements','Disease','A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.'),('238744','Mammary-digital-nail syndrome','Malformation syndrome','Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.'),('238750','4q21 microdeletion syndrome','Malformation syndrome','The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.'),('238755','Autosomal dominant limb-girdle muscular dystrophy type 1H','Disease','A rare subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.'),('238763','Glaucoma secondary to spherophakia/ectopia lentis and megalocornea','Malformation syndrome','Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.'),('238766','Ptosis-syndactyly-learning difficulties syndrome','Malformation syndrome','no definition available'),('238769','1q44 microdeletion syndrome','Malformation syndrome','1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.'),('2388','Choreoacanthocytosis','Disease','Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.'),('2389','Lewis-Pashayan syndrome','Malformation syndrome','no definition available'),('239','Dyggve-Melchior-Clausen disease','Disease','A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)'),('2390','Lichtenstein syndrome','Disease','Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.'),('2391','Congenitally short costocoracoid ligament','Malformation syndrome','Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.'),('2394','Pyruvate dehydrogenase E3 deficiency','Clinical subtype','Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.'),('2396','Encephalocraniocutaneous lipomatosis','Disease','A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.'),('2398','Multiple symmetric lipomatosis','Disease','A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).'),('2399','Nasopalpebral lipoma-coloboma syndrome','Malformation syndrome','Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.'),('24','Fumaric aciduria','Disease','Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.'),('240','Léri-Weill dyschondrosteosis','Malformation syndrome','A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.'),('2400','Peripheral motor neuropathy-dysautonomia syndrome','Disease','Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.'),('240071','Classic progressive supranuclear palsy syndrome','Clinical subtype','Classical progressive supranuclear palsy, also known as Richardson`s syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.'),('240085','Progressive supranuclear palsy-parkinsonism syndrome','Clinical subtype','PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.'),('240094','Progressive supranuclear palsy-pure akinesia with gait freezing syndrome','Clinical subtype','PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.'),('240103','Progressive supranuclear palsy-corticobasal syndrome','Clinical subtype','PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.'),('240112','Progressive supranuclear palsy-progressive non-fluent aphasia syndrome','Clinical subtype','PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.'),('240266','OBSOLETE: Systemic non-Langerhans cell histiocytosis','Clinical group','no definition available'),('240371','Syndromic obesity','Category','no definition available'),('2404','Loiasis','Disease','Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (``African eye worm``) and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).'),('2405','Thickened earlobes-conductive deafness syndrome','Malformation syndrome','Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.'),('2406','Locked-in syndrome','Disease','Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.'),('2407','LOC syndrome','Disease','LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.'),('240760','Nijmegen breakage syndrome-like disorder','Malformation syndrome','Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.'),('2408','Lowe-Kohn-Cohen syndrome','Malformation syndrome','Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.'),('2409','Lowry-MacLean syndrome','Malformation syndrome','Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.'),('241','Dyschromatosis universalis hereditaria','Disease','A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.'),('2410','Hypergonadotropic hypogonadism-cataract syndrome','Malformation syndrome','This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.'),('2412','Dislocation of the hip-dysmorphism syndrome','Malformation syndrome','Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.'),('2414','Congenital pulmonary lymphangiectasia','Disease','A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.'),('2415','Rare lymphatic malformation','Category','no definition available'),('2416','Congenital primary lymphedema without systemic or visceral involvement','Clinical group','no definition available'),('2419','Lymphedema-ptosis syndrome','Malformation syndrome','no definition available'),('242','46,XY complete gonadal dysgenesis','Malformation syndrome','A rare disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.'),('2420','Primary pulmonary lymphoma','Disease','A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).'),('2427','Macrocephaly-short stature-paraplegia syndrome','Malformation syndrome','Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.'),('2429','Macrocephaly-spastic paraplegia-dysmorphism syndrome','Malformation syndrome','Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.'),('243','46,XX gonadal dysgenesis','Malformation syndrome','46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.'),('2430','Congenital macroglossia','Malformation syndrome','A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.'),('2431','Central bilateral macrogyria','Disease','A neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy.'),('2432','Macrosomia-microphthalmia-cleft palate syndrome','Malformation syndrome','Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.'),('243343','Dimethylglycine dehydrogenase deficiency','Disease','Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.'),('243367','Acute fatty liver of pregnancy','Disease','A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.'),('243377','NON RARE IN EUROPE: Diabetes mellitus type 1','Disease','no definition available'),('2435','Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome','Disease','Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.'),('2437','Czeizel-Losonci syndrome','Malformation syndrome','Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.'),('243761','NON RARE IN EUROPE: Essential hypertension','Disease','no definition available'),('2438','Hand-foot-genital syndrome','Malformation syndrome','Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.'),('2439','Patterson-Stevenson-Fontaine syndrome','Malformation syndrome','Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.'),('244','Primary ciliary dyskinesia','Disease','A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).'),('2440','Isolated split hand-split foot malformation','Malformation syndrome','Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.'),('2442','X-linked lymphoproliferative disease','Clinical group','no definition available'),('244242','HELLP syndrome','Disease','A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.'),('244283','Biliary atresia with splenic malformation syndrome','Malformation syndrome','Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.'),('2443','Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies','Category','Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).'),('244305','Dominant hypophosphatemia with nephrolithiasis or osteoporosis','Disease','A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.'),('244310','RFT1-CDG','Disease','RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).'),('2444','Congenital pulmonary airway malformation','Malformation syndrome','no definition available'),('2445','Conotruncal heart malformations','Category','A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).'),('2447','Congenital mitral malformation','Category','no definition available'),('245','Nager syndrome','Malformation syndrome','A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.'),('2451','Mucocutaneous venous malformations','Malformation syndrome','Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.'),('2452','OBSOLETE: Vascular malposition','Clinical group','no definition available'),('2453','Malpuech syndrome','Malformation syndrome','no definition available'),('2454','OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome','Malformation syndrome','no definition available'),('2456','Familial supernumerary nipples','Morphological anomaly','Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.'),('2457','Mandibuloacral dysplasia','Malformation syndrome','Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.'),('2458','OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome','Malformation syndrome','no definition available'),('2459','Mansonelliasis','Disease','Mansonellosis is a mild form of filariasis (see this term), distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis (see this term)), severe abdominal pain and endocrine disturbances.'),('246','Postaxial acrofacial dysostosis','Malformation syndrome','Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.'),('2460','Van den Ende-Gupta syndrome','Malformation syndrome','Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.'),('2461','Marden-Walker syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.'),('2462','Shprintzen-Goldberg syndrome','Malformation syndrome','Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.'),('2463','Marfanoid habitus-autosomal recessive intellectual disability syndrome','Malformation syndrome','Marfanoid habitus – intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.'),('2464','Marfanoid syndrome, De Silva type','Malformation syndrome','A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.'),('2466','MASA syndrome','Clinical subtype','A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.'),('2467','Systemic mastocytosis','Clinical group','A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.'),('247','Arrhythmogenic right ventricular cardiomyopathy','Clinical group','A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.'),('2470','Matthew-Wood syndrome','Malformation syndrome','Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.'),('2471','McDonough syndrome','Malformation syndrome','McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.'),('247165','Infantile mercury poisoning','Disease','Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.'),('247198','Progressive cerebello-cerebral atrophy','Disease','no definition available'),('247203','Collecting duct carcinoma','Disease','Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.'),('247234','Sporadic adult-onset ataxia of unknown etiology','Disease','Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.'),('247239','Non-hereditary degenerative ataxia','Category','no definition available'),('247242','Acquired ataxia','Category','no definition available'),('247245','Superficial siderosis','Disease','Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.'),('247257','Inhalational anthrax','Disease','Inhalational anthrax is a rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.'),('247262','Hyperphosphatasia-intellectual disability syndrome','Disease','A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.'),('2473','McKusick-Kaufman syndrome','Malformation syndrome','McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.'),('247353','Generalized pustular psoriasis','Disease','Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.'),('247378','Autosomal recessive secondary polycythemia not associated with VHL gene','Disease','A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.'),('2474','OBSOLETE: McLain-Dekaban syndrome','Malformation syndrome','no definition available'),('2475','White forelock with malformations','Malformation syndrome','White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.'),('247511','Autosomal dominant secondary polycythemia','Disease','A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.'),('247522','Primary ciliary dyskinesia-retinitis pigmentosa syndrome','Disease','Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.'),('247525','Citrullinemia type I','Disease','Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).'),('247546','Acute neonatal citrullinemia type I','Clinical subtype','A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.'),('247573','Adult-onset citrullinemia type I','Clinical subtype','A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.'),('247582','Citrin deficiency','Category','A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).'),('247585','Citrullinemia type II','Disease','A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.'),('247598','Neonatal intrahepatic cholestasis due to citrin deficiency','Disease','A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.'),('2476','Dysraphism-cleft lip/palate-limb reduction defects syndrome','Malformation syndrome','A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.'),('247604','Juvenile primary lateral sclerosis','Disease','A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.'),('247623','Perinatal lethal hypophosphatasia','Clinical subtype','A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.'),('247638','Prenatal benign hypophosphatasia','Clinical subtype','A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.'),('247651','Infantile hypophosphatasia','Clinical subtype','A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.'),('247667','Childhood-onset hypophosphatasia','Clinical subtype','A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.'),('247676','Adult hypophosphatasia','Clinical subtype','A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.'),('247685','Odontohypophosphatasia','Clinical subtype','A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.'),('247691','Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations','Disease','Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.'),('247698','Multiple endocrine neoplasia type 2A','Clinical subtype','Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.'),('2477','Megalencephaly','Malformation syndrome','A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.'),('247709','Multiple endocrine neoplasia type 2B','Clinical subtype','Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus.'),('247718','Inflammatory myopathy with abundant macrophages','Disease','Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.'),('247724','Idiopathic eosinophilic myositis','Disease','Idiopathic eosinophilic myositis is a rare skeletal muscle disease characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral aquilae retraction, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.'),('247762','Lipoblastoma','Disease','A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.'),('247765','X-linked cerebellar ataxia','Category','no definition available'),('247768','Müllerian aplasia and hyperandrogenism','Malformation syndrome','no definition available'),('247775','Mayer-Rokitansky-Küster-Hauser syndrome type 1','Clinical subtype','Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.'),('247790','FTH1-related iron overload','Disease','no definition available'),('247794','Juvenile cataract-microcornea-renal glucosuria syndrome','Disease','Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.'),('247798','MUTYH-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('2478','Megalencephalic leukoencephalopathy with subcortical cysts','Disease','Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.'),('247806','APC-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('247815','Autosomal recessive ataxia due to PEX10 deficiency','Disease','no definition available'),('247820','Ectodermal dysplasia-syndactyly syndrome','Malformation syndrome','Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.'),('247827','Ectodermal dysplasia-cutaneous syndactyly syndrome','Malformation syndrome','no definition available'),('247834','Occult macular dystrophy','Disease','Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.'),('247839','Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies','Etiological subtype','no definition available'),('247846','Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies','Etiological subtype','no definition available'),('247854','Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies','Etiological subtype','no definition available'),('247861','Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies','Etiological subtype','no definition available'),('247868','NLRP12-associated hereditary periodic fever syndrome','Disease','NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.'),('247871','OBSOLETE: Vitiligo-associated autoimmune disease','Disease','no definition available'),('2479','Megalocornea-intellectual disability syndrome','Malformation syndrome','Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.'),('248','Autosomal recessive hypohidrotic ectodermal dysplasia','Etiological subtype','no definition available'),('248095','Primary hypertrophic osteoarthropathy','Clinical group','Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).'),('2481','Neurocutaneous melanocytosis','Disease','Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.'),('248111','Juvenile Huntington disease','Disease','Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.'),('2482','Melhem-Fahl syndrome','Malformation syndrome','Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.'),('248293','Rare deficiency anemia','Category','no definition available'),('248296','Constitutional deficiency anemia','Category','no definition available'),('2483','Melkersson-Rosenthal syndrome','Malformation syndrome','The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.'),('248302','Rare acquired deficiency anemia','Category','no definition available'),('248305','OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency','Disease','no definition available'),('248308','Rare hemorrhagic disorder','Category','no definition available'),('248315','Rare hemorrhagic disorder due to a coagulation factors defect','Category','no definition available'),('248326','Rare hemorrhagic disorder due to a platelet anomaly','Category','no definition available'),('248340','Isolated delta-storage pool disease','Disease','Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.'),('248347','Rare hemorrhagic disorder due to an acquired platelet anomaly','Category','no definition available'),('248358','Rare thrombotic disorder due to a coagulation factors defect','Category','no definition available'),('248361','Rare thrombotic disorder due to a constitutional coagulation factors defect','Category','no definition available'),('248365','Rare thrombotic disorder due to an acquired coagulation factors defect','Category','no definition available'),('248368','Rare thrombotic disorder due to a platelet anomaly','Category','no definition available'),('2484','Melnick-Needles syndrome','Malformation syndrome','Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.'),('248401','Rare thrombotic disorder due to a constitutional platelet anomaly','Category','no definition available'),('248404','Rare thrombotic disorder due to an acquired platelet anomaly','Category','no definition available'),('248408','Familial hypodysfibrinogenemia','Clinical subtype','no definition available'),('2485','Melorheostosis','Malformation syndrome','Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.'),('2486','Transverse limb deficiency-hemangioma syndrome','Malformation syndrome','no definition available'),('2487','Lower limb malformation-hypospadias syndrome','Malformation syndrome','Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.'),('2489','Upper limb defect-eye and ear abnormalities syndrome','Malformation syndrome','Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.'),('249','Fibrous dysplasia of bone','Malformation syndrome','A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.'),('2491','Müllerian duct anomalies-limb anomalies syndrome','Malformation syndrome','Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.'),('2492','FATCO syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.'),('2494','Ménétrier disease','Disease','Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.'),('2495','Meningioma','Disease','A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.'),('2496','Mesomelia-synostoses syndrome','Malformation syndrome','Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.'),('2497','Upper limb mesomelic dysplasia','Malformation syndrome','This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.'),('2498','Syndactyly type 8','Morphological anomaly','Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.'),('2499','Metachondromatosis','Malformation syndrome','Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.'),('25','Glutaryl-CoA dehydrogenase deficiency','Disease','Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.'),('250','Frontonasal dysplasia','Clinical group','A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow`s peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.'),('2500','Acrogeria','Malformation syndrome','A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.'),('2501','Metaphyseal chondrodysplasia, Spahr type','Disease','A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.'),('250165','Genetic polycythemia','Category','no definition available'),('2502','Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome','Malformation syndrome','Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.'),('2504','Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome','Malformation syndrome','Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.'),('2505','Multiple benign circumferential skin creases on limbs','Disease','no definition available'),('2506','Michels syndrome','Malformation syndrome','no definition available'),('2507','OBSOLETE: Mickleson syndrome','Malformation syndrome','no definition available'),('2508','Corpus callosum agenesis-abnormal genitalia syndrome','Malformation syndrome','Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.'),('250805','Serpinopathy','Category','no definition available'),('250808','Serpinopathy with toxic serpin polymerization','Category','no definition available'),('250811','Serpinopathy with loss of serpin function','Category','no definition available'),('250831','Logopenic progressive aphasia','Disease','Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.'),('250908','Rare neoplastic disease','Category','no definition available'),('250923','Isolated aniridia','Morphological anomaly','Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.'),('250932','Autosomal dominant optic atrophy and peripheral neuropathy','Disease','A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.'),('250972','Polymicrogyria with optic nerve hypoplasia','Malformation syndrome','Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.'),('250977','AICA-ribosiduria','Disease','An extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.'),('250984','Autosomal recessive Stickler syndrome','Clinical subtype','Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms'),('250989','1q21.1 microdeletion syndrome','Malformation syndrome','1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.'),('250994','1q21.1 microduplication syndrome','Malformation syndrome','1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.'),('250999','1q41q42 microdeletion syndrome','Malformation syndrome','1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.'),('251','Multiple epiphyseal dysplasia','Clinical group','A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.'),('2510','Micro syndrome','Malformation syndrome','Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.'),('251004','Paternal uniparental disomy of chromosome 1','Malformation syndrome','Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('251009','Maternal uniparental disomy of chromosome 1','Malformation syndrome','Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('251014','2q31.1 microdeletion syndrome','Malformation syndrome','2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.'),('251019','2q32q33 microdeletion syndrome','Malformation syndrome','2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.'),('251028','SATB2-associated syndrome due to a chromosomal rearrangement','Etiological subtype','2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.'),('251038','3q29 microduplication syndrome','Malformation syndrome','3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.'),('251043','Ring chromosome 5 syndrome','Malformation syndrome','Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).'),('251046','6p22 microdeletion syndrome','Malformation syndrome','6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.'),('251056','6q25 microdeletion syndrome','Malformation syndrome','6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.'),('251061','7q31 microdeletion syndrome','Malformation syndrome','7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.'),('251066','8p11.2 deletion syndrome','Malformation syndrome','8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.'),('251071','8p23.1 microdeletion syndrome','Malformation syndrome','8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.'),('251076','8p23.1 duplication syndrome','Malformation syndrome','8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).'),('2511','Microbrachycephaly-ptosis-cleft lip syndrome','Malformation syndrome','Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.'),('2512','Autosomal recessive primary microcephaly','Etiological subtype','Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.'),('251262','Familial osteochondritis dissecans','Disease','Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.'),('251274','Familial hyperaldosteronism type III','Disease','Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.'),('251279','Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome','Disease','Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.'),('251282','Autosomal dominant spastic ataxia type 1','Disease','A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.'),('251287','Benign concentric annular macular dystrophy','Disease','Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.'),('251290','Parietal foramina with clavicular hypoplasia','Malformation syndrome','A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.'),('251295','Pigmented paravenous retinochoroidal atrophy','Disease','Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ``bone-corpuscle`` pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.'),('2513','Microcephaly-albinism-digital anomalies syndrome','Malformation syndrome','Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.'),('251304','Infantile onset panniculitis with uveitis and systemic granulomatosis','Disease','Infantile onset panniculitis with uveitis and systemic granulomatosis is a rare granulomatous autoinflammatroy disease characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.'),('251307','Idiopathic recurrent pericarditis','Disease','Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.'),('251312','Overlapping connective tissue disease','Clinical group','no definition available'),('251316','OBSOLETE: Unclassified overlapping connective tissue disease','Disease','no definition available'),('251325','Drug-induced vasculitis','Disease','no definition available'),('251328','Unclassified vasculitis','Disease','no definition available'),('251332','Unexplained long-lasting fever/inflammatory syndrome','Disease','no definition available'),('251347','Ataxia-telangiectasia-like disorder','Disease','A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.'),('251355','Sickle cell disease associated with an other hemoglobin anomaly','Category','no definition available'),('251359','Sickle cell-beta-thalassemia disease syndrome','Disease','A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.'),('251365','Sickle cell-hemoglobin C disease syndrome','Disease','A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.'),('251370','Sickle cell-hemoglobin D disease syndrome','Disease','A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells, and irreversibly sickled cells. Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis.'),('251375','Sickle cell-hemoglobin E disease syndrome','Disease','A rare, genetic hemoglobinopathy usually characterized by mild hemolysis without vaso-occlusive complications or abnormality of red blood cell morphology. However, more severe manifestations have also been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis.'),('251380','Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome','Disease','A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.'),('251383','CK syndrome','Malformation syndrome','CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.'),('251393','Localized junctional epidermolysis bullosa, non-Herlitz type','Clinical subtype','Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.'),('2514','Autosomal dominant primary microcephaly','Etiological subtype','A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.'),('2515','Microcephaly-cardiomyopathy syndrome','Malformation syndrome','Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.'),('251510','46,XY partial gonadal dysgenesis','Malformation syndrome','46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.'),('251515','Distal arthrogryposis type 10','Malformation syndrome','A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.'),('251523','Hyperzincemia and hypercalprotectinemia','Disease','A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.'),('251529','Toxic or drug-related embryofetopathy','Category','no definition available'),('251535','Maternal disease-related embryofetopathy','Category','no definition available'),('251558','Rare tumor of neuroepithelial tissue','Category','no definition available'),('251561','High-grade astrocytoma','Clinical group','no definition available'),('251576','Gliosarcoma','Histopathological subtype','no definition available'),('251579','Giant cell glioblastoma','Histopathological subtype','no definition available'),('251582','Gliomatosis cerebri','Disease','A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.'),('251589','Anaplastic astrocytoma','Disease','A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.'),('251592','Low-grade astrocytoma','Clinical group','no definition available'),('251595','Diffuse astrocytoma','Disease','A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.'),('251598','Protoplasmic astrocytoma','Histopathological subtype','no definition available'),('2516','Microcephaly-cardiac defect-lung malsegmentation syndrome','Malformation syndrome','Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.'),('251601','Fibrillary astrocytoma','Histopathological subtype','no definition available'),('251604','Gemistocytic astrocytoma','Histopathological subtype','no definition available'),('251607','Pleomorphic xanthoastrocytoma','Disease','A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors.'),('251612','Pilocytic astrocytoma','Disease','Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.'),('251615','Pilomyxoid astrocytoma','Histopathological subtype','no definition available'),('251618','Subependymal giant cell astrocytoma','Disease','A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.'),('251623','Pituicytoma','Disease','A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection.'),('251627','Oligodendroglioma','Disease','A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.'),('251630','Anaplastic oligodendroglioma','Disease','A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.'),('251633','OBSOLETE: Low-grade ependymoma','Disease','no definition available'),('251636','Ependymoma','Disease','Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.'),('251639','Subependymoma','Disease','Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.'),('251643','Myxopapillary ependymoma','Disease','Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.'),('251646','Anaplastic ependymoma','Disease','A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.'),('251651','Oligoastrocytic tumor','Clinical group','no definition available'),('251656','Oligoastrocytoma','Disease','Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.'),('251663','Anaplastic oligoastrocytoma','Disease','A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.'),('251668','Glial tumor of neuroepithelial tissue with unknown origin','Clinical group','no definition available'),('251671','Angiocentric glioma','Disease','An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.'),('251674','Chordoid glioma','Disease','Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.'),('251679','Astroblastoma','Disease','A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.'),('2518','Autosomal recessive chorioretinopathy-microcephaly syndrome','Malformation syndrome','A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.'),('251852','Embryonal tumor of neuroepithelial tissue','Category','no definition available'),('251855','Anaplastic/large cell medulloblastoma','Histopathological subtype','A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.'),('251858','Medulloblastoma with extensive nodularity','Histopathological subtype','Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.'),('251863','Desmoplastic/nodular medulloblastoma','Histopathological subtype','Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.'),('251867','Classic medulloblastoma','Histopathological subtype','Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.'),('251870','Central nervous system embryonal tumor','Clinical group','no definition available'),('251877','Ganglioneuroblastoma','Disease','Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.'),('251880','Ependymoblastoma','Disease','Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.'),('251883','Medulloepithelioma of the central nervous system','Disease','Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.'),('251891','OBSOLETE: Atypical teratoid/rhabdoid tumor','Disease','no definition available'),('251896','Choroid plexus tumor','Clinical group','no definition available'),('251899','Choroid plexus carcinoma','Disease','Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.'),('2519','Microcephaly-seizures-intellectual disability-heart disease syndrome','Malformation syndrome','A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.'),('251902','Atypical papilloma of choroid plexus','Disease','A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.'),('251905','Pineal tumor of neuroepithelial tissue','Clinical group','no definition available'),('251909','Pineoblastoma','Disease','Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.'),('251912','Pineocytoma','Disease','Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud`s syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.'),('251915','Papillary tumor of the pineal region','Disease','Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.'),('251919','Pineal parenchymal tumor of intermediate differenciation','Disease','Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.'),('251924','Neuronal tumor','Clinical group','no definition available'),('251927','Extraventricular neurocytoma','Disease','Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.'),('251931','Cerebellar liponeurocytoma','Disease','Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.'),('251934','Mixed neuronal-glial tumor','Clinical group','no definition available'),('251937','Gangliocytoma','Disease','Gangliocytoma is a rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.'),('251940','Desmoplastic infantile astrocytoma/ganglioglioma','Disease','Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.'),('251946','Dysembryoplastic neuroepithelial tumor','Disease','A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.'),('251949','Ganglioglioma','Disease','Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.'),('251957','Anaplastic ganglioglioma','Disease','A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.'),('251962','Papillary glioneuronal tumor','Disease','A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.'),('251975','Rosette-forming glioneuronal tumor','Disease','Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.'),('251992','Ganglioneuroma','Disease','Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.'),('251995','Primary germ cell tumor of central nervous system','Category','no definition available'),('252','OBSOLETE: Spondyloepimetaphyseal dysplasia','Clinical group','no definition available'),('252006','Yolk sac tumor of central nervous system','Clinical subtype','no definition available'),('252015','Choriocarcinoma of the central nervous system','Disease','A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.'),('252018','Teratoma of the central nervous system','Clinical subtype','no definition available'),('252021','Mixed germ cell tumor of central nervous system','Clinical subtype','no definition available'),('252025','Tumor of meninges','Category','no definition available'),('252028','Primary melanocytic tumor of central nervous system','Category','no definition available'),('252031','Diffuse leptomeningeal melanocytosis','Disease','Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.'),('252046','Meningeal melanocytoma','Disease','A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection.'),('252050','Primary melanoma of the central nervous system','Disease','Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.'),('252054','Hemangioblastoma','Disease','Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.'),('252057','Tumor of cranial and spinal nerves','Category','no definition available'),('2521','Microcephaly-cleft palate-abnormal retinal pigmentation syndrome','Malformation syndrome','Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.'),('252128','Malignant peripheral nerve sheath tumor with perineurial differentiation','Histopathological subtype','Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.'),('252131','Benign peripheral nerve sheath tumor','Category','no definition available'),('252164','Benign schwannoma','Disease','A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.'),('252175','Vestibular schwannoma','Clinical subtype','Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.'),('252183','Neurofibroma','Disease','A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.'),('252190','Inherited nervous system cancer-predisposing syndrome','Category','no definition available'),('2522','Microcephaly-cervical spine fusion anomalies syndrome','Malformation syndrome','Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.'),('252202','Constitutional mismatch repair deficiency syndrome','Disease','Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.'),('252206','Melanoma and neural system tumor syndrome','Disease','Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).'),('252212','Malignant triton tumor','Histopathological subtype','Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.'),('2523','Microcephaly-brain defect-spasticity-hypernatremia syndrome','Malformation syndrome','Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.'),('2524','Pontocerebellar hypoplasia type 2','Malformation syndrome','Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.'),('2526','Microcephaly-lymphedema-chorioretinopathy syndrome','Malformation syndrome','Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.'),('2528','Microcephaly-microcornea syndrome, Seemanova type','Malformation syndrome','Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister`s son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.'),('253','Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia','Clinical group','no definition available'),('2533','Microcephaly-deafness-intellectual disability syndrome','Malformation syndrome','Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.'),('2535','OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome','Malformation syndrome','no definition available'),('2536','Microcornea-glaucoma-absent frontal sinuses syndrome','Malformation syndrome','A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.'),('2538','Microgastria-limb reduction defect syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.'),('254','Spondylometaphyseal dysplasia','Clinical group','Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.'),('2542','Isolated microphthalmia-anophthalmia-coloboma','Clinical group','A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.'),('2543','OBSOLETE: Microphthalmia-cataract syndrome','Malformation syndrome','no definition available'),('254334','Autosomal recessive intermediate Charcot-Marie-Tooth disease type B','Disease','An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.'),('254343','Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome','Disease','A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.'),('254346','19p13.12 microdeletion syndrome','Malformation syndrome','19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.'),('254351','Distal 7q11.23 microdeletion syndrome','Malformation syndrome','Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).'),('254361','Plectin-related limb-girdle muscular dystrophy R17','Disease','A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.'),('254367','Rare lichen planus','Category','Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms).'),('254370','Rare cutaneous lichen planus','Category','no definition available'),('254373','Rare mucosal lichen planus','Category','no definition available'),('254379','Linear lichen planus','Disease','Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.'),('254395','Actinic lichen planus','Disease','A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.'),('254411','Annular atrophic lichen planus','Disease','A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.'),('254424','Annular lichen planus','Disease','A rare variant of cutaneous lichen planus characterized by the development of annular lesions.'),('254449','Atrophic lichen planus','Disease','A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.'),('254463','Lichen planus pigmentosus','Disease','Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.'),('254478','Lichen planus pemphigoides','Disease','Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms).'),('254492','Frontal fibrosing alopecia','Disease','Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.'),('254504','Inhalational botulism','Clinical subtype','Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).'),('254509','Iatrogenic botulism','Clinical subtype','Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.'),('254516','Temple syndrome','Malformation syndrome','Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).'),('254519','Kagami-Ogata syndrome','Malformation syndrome','Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.'),('254525','Temple syndrome due to paternal 14q32.2 microdeletion','Etiological subtype','no definition available'),('254528','Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion','Etiological subtype','no definition available'),('254531','Temple syndrome due to paternal 14q32.2 hypomethylation','Etiological subtype','no definition available'),('254534','Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation','Etiological subtype','no definition available'),('254685','Gestational trophoblastic disease','Category','no definition available'),('254688','Complete hydatidiform mole','Clinical subtype','Complete hydatidiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma (see this term).'),('254693','Partial hydatidiform mole','Clinical subtype','Partial hydatiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.'),('254698','Epithelioid trophoblastic tumor','Disease','An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT; see this term) which generally occurs several years after pregnancy.'),('2547','Microphthalmia-microtia-fetal akinesia syndrome','Malformation syndrome','no definition available'),('254704','Genetic hyperferritinemia without iron overload','Biological anomaly','Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.'),('254707','Faisalabad histiocytosis','Disease','no definition available'),('254712','Familial sinus histiocytosis with massive lymphadenopathy','Disease','no definition available'),('254723','Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome','Disease','no definition available'),('254746','Pyruvate metabolism disorder','Category','no definition available'),('254749','Tricarboxylic acid cycle disorder','Category','no definition available'),('254758','Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies','Category','no definition available'),('254767','Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA','Category','no definition available'),('254776','Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA','Category','no definition available'),('254788','Mitochondrial DNA-related mitochondrial myopathy','Clinical group','no definition available'),('254793','Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA','Category','no definition available'),('254803','Mitochondrial DNA depletion syndrome, encephalomyopathic form','Clinical group','Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.'),('254807','Multiple mitochondrial DNA deletion syndrome','Category','no definition available'),('254818','Ataxia neuropathy spectrum','Clinical group','no definition available'),('254822','Mitochondrial oxidative phosphorylation disorder with no known mechanism','Category','no definition available'),('254827','Mitochondrial membrane transport disorder','Category','no definition available'),('254830','Mitochondrial substrate carrier disorder','Category','no definition available'),('254834','Mitochondrial protein import disorder','Category','no definition available'),('254837','Unspecified mitochondrial disorder','Clinical group','no definition available'),('254843','Exercise intolerance with lactic acidosis','Clinical group','no definition available'),('254846','Isolated oxidative phosphorylation complex disorder','Category','no definition available'),('254851','Mitochondrial DNA-related dystonia','Disease','Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.'),('254854','Pure mitochondrial myopathy','Disease','Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.'),('254857','Lethal infantile mitochondrial myopathy','Disease','Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.'),('254864','Mitochondrial myopathy with reversible cytochrome C oxidase deficiency','Disease','A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.'),('254871','Mitochondrial DNA depletion syndrome, hepatocerebral form','Clinical group','no definition available'),('254875','Mitochondrial DNA depletion syndrome, myopathic form','Disease','Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.'),('254881','Spinocerebellar ataxia with epilepsy','Disease','Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.'),('254886','Autosomal recessive progressive external ophthalmoplegia','Disease','A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.'),('254892','Autosomal dominant progressive external ophthalmoplegia','Disease','A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.'),('254898','Deafness-encephaloneuropathy-obesity-valvulopathy syndrome','Disease','Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.'),('2549','Oculoauriculovertebral spectrum with radial defects','Malformation syndrome','Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.'),('254902','Renal tubulopathy-encephalopathy-liver failure syndrome','Disease','Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.'),('254905','Isolated cytochrome C oxidase deficiency','Disease','no definition available'),('254913','Isolated ATP synthase deficiency','Disease','Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).'),('254920','Combined oxidative phosphorylation defect type 2','Disease','Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.'),('254925','Combined oxidative phosphorylation defect type 4','Disease','Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.'),('254930','Combined oxidative phosphorylation defect type 7','Disease','Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.'),('255','Dopa-responsive dystonia','Clinical group','Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.'),('2551','Microspherophakia-metaphyseal dysplasia syndrome','Malformation syndrome','Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.'),('255117','OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness','Disease','no definition available'),('255132','Adult-onset autosomal recessive sideroblastic anemia','Disease','A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.'),('255138','Pyruvate dehydrogenase E1-beta deficiency','Clinical subtype','Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.'),('255182','Pyruvate dehydrogenase E3-binding protein deficiency','Clinical subtype','Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.'),('255199','OBSOLETE: Sporadic Leigh syndrome','Disease','no definition available'),('2552','Microsporidiosis','Disease','Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).'),('255210','Mitochondrial DNA-associated Leigh syndrome','Disease','Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.'),('255225','OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy','Disease','no definition available'),('255229','Navajo neurohepatopathy','Disease','A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of funtion, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.'),('255235','Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy','Disease','no definition available'),('255241','Leigh syndrome with leukodystrophy','Disease','no definition available'),('255249','Leigh syndrome with nephrotic syndrome','Disease','A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.'),('2554','Ear-patella-short stature syndrome','Malformation syndrome','Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).'),('2556','Microphthalmia with linear skin defects syndrome','Malformation syndrome','MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.'),('2557','Mietens syndrome','Malformation syndrome','Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.'),('2558','Mikati-Najjar-Sahli syndrome','Malformation syndrome','Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).'),('256','Early-onset generalized limb-onset dystonia','Disease','A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.'),('2560','Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction; see this term) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.'),('2561','Pyramidal molars-abnormal upper lip syndrome','Malformation syndrome','A rare syndrome characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.'),('2563','MOMO syndrome','Malformation syndrome','MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.'),('2564','Tetramelic monodactyly','Malformation syndrome','Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.'),('2565','Mononen-Karnes-Senac syndrome','Malformation syndrome','Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.'),('2566','Chronic Epstein-Barr virus infection syndrome','Disease','Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.'),('2569','Moore-Federman syndrome','Malformation syndrome','no definition available'),('257','Epidermolysis bullosa simplex with muscular dystrophy','Disease','Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.'),('2570','Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome','Malformation syndrome','Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.'),('2571','X-linked immunoneurologic disorder','Disease','X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.'),('2572','Spastic ataxia-corneal dystrophy syndrome','Disease','Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.'),('2573','Moyamoya disease','Disease','Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.'),('2574','Moynahan syndrome','Malformation syndrome','A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.'),('2575','Cystic fibrosis-gastritis-megaloblastic anemia syndrome','Disease','Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.'),('2576','Mulibrey nanism','Malformation syndrome','A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.'),('2578','Mayer-Rokitansky-Küster-Hauser syndrome type 2','Clinical subtype','Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.'),('2579','Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome','Disease','A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.'),('258','Laminin subunit alpha 2-related congenital muscular dystrophy','Malformation syndrome','Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.'),('2580','OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome','Malformation syndrome','no definition available'),('2582','Myalgia-eosinophilia syndrome associated with tryptophan','Malformation syndrome','Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.'),('2583','Mycetoma','Disease','Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.'),('2584','Classic mycosis fungoides','Disease','Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.'),('2585','Ataxia-pancytopenia syndrome','Malformation syndrome','A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.'),('2587','Myeloperoxidase deficiency','Disease','A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.'),('2588','Myhre syndrome','Malformation syndrome','Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.'),('2589','Myoclonus-cerebellar ataxia-deafness syndrome','Malformation syndrome','This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.'),('2590','Spinal muscular atrophy-progressive myoclonic epilepsy syndrome','Disease','Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.'),('2591','Infantile myofibromatosis','Disease','A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.'),('2593','Tubular aggregate myopathy','Disease','A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.'),('2596','Myopathy and diabetes mellitus','Disease','A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.'),('25968','Benign occipital epilepsy','Disease','Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.'),('2597','Mitochondrial myopathy-lactic acidosis-deafness syndrome','Disease','Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.'),('2598','Mitochondrial myopathy and sideroblastic anemia','Disease','Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.'),('25980','X-linked myopathy with excessive autophagy','Disease','X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.'),('26','Methylmalonic acidemia with homocystinuria','Disease','A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).'),('2601','OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome','Malformation syndrome','no definition available'),('260305','Autosomal recessive sideroblastic anemia','Disease','Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.'),('2604','Familial visceral myopathy','Disease','Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.'),('2608','N syndrome','Malformation syndrome','A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.'),('2609','Isolated complex I deficiency','Disease','Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).'),('261','Emery-Dreifuss muscular dystrophy','Disease','A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.'),('26106','Hereditary diffuse gastric cancer','Disease','Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.'),('2611','Linear verrucous nevus syndrome','Disease','no definition available'),('261102','Distal 7q11.23 microduplication syndrome','Malformation syndrome','Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.'),('261112','Monosomy 9p','Malformation syndrome','Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.'),('261120','14q11.2 microdeletion syndrome','Malformation syndrome','14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.'),('261144','14q12 microdeletion syndrome','Malformation syndrome','14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.'),('261183','15q11.2 microdeletion syndrome','Malformation syndrome','15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).'),('261190','15q14 microdeletion syndrome','Malformation syndrome','15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.'),('261197','Proximal 16p11.2 microdeletion syndrome','Malformation syndrome','The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.'),('2612','Linear nevus sebaceus syndrome','Disease','A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.'),('261204','16p11.2p12.2 microduplication syndrome','Malformation syndrome','16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.'),('261211','16p11.2p12.2 microdeletion syndrome','Malformation syndrome','16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.'),('261222','Distal 16p11.2 microdeletion syndrome','Malformation syndrome','Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.'),('261229','14q11.2 microduplication syndrome','Malformation syndrome','14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.'),('261236','16p13.11 microdeletion syndrome','Malformation syndrome','16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.'),('261243','16p13.11 microduplication syndrome','Malformation syndrome','16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.'),('261250','16q24.3 microdeletion syndrome','Malformation syndrome','16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.'),('261257','Distal 17p13.3 microdeletion syndrome','Malformation syndrome','Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.'),('261265','17q12 microdeletion syndrome','Malformation syndrome','17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.'),('261272','17q12 microduplication syndrome','Malformation syndrome','17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.'),('261279','17q23.1q23.2 microdeletion syndrome','Malformation syndrome','17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.'),('261290','Trisomy 17p','Malformation syndrome','Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.'),('261295','20p12.3 microdeletion syndrome','Malformation syndrome','20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.'),('2613','Nail-patella-like renal disease','Disease','A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.'),('261304','Paternal 20q13.2q13.3 microdeletion syndrome','Malformation syndrome','Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.'),('261311','20q13.33 microdeletion syndrome','Malformation syndrome','20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.'),('261318','Trisomy 20p','Malformation syndrome','Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.'),('261323','21q22.11q22.12 microdeletion syndrome','Malformation syndrome','A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.'),('261330','Distal 22q11.2 microdeletion syndrome','Malformation syndrome','Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.'),('261337','Distal 22q11.2 microduplication syndrome','Malformation syndrome','Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.'),('261344','Trisomy 1q','Malformation syndrome','Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.'),('261349','2p15p16.1 microdeletion syndrome','Malformation syndrome','2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.'),('26137','Juvenile temporal arteritis','Disease','Juvenile temporal arteritis (JTA) is an extremely uncommon vasculitis of unknown etiology. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area. The term JTA was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and microaneurysmal disruption of the media. JTA has a benign clinical course, is treated by surgical excision and does not recur.'),('2614','Nail-patella syndrome','Malformation syndrome','Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.'),('261476','Xp21 microdeletion syndrome','Disease','Xp21 microdeletion syndrome is a rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.'),('261483','Xq27.3q28 duplication syndrome','Malformation syndrome','Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.'),('261494','Kleefstra syndrome','Malformation syndrome','Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.'),('2615','Nakajo-Nishimura syndrome','Clinical subtype','no definition available'),('261501','Atypical Norrie disease due to Xp11.3 microdeletion','Malformation syndrome','A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.'),('261512','OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3','Malformation syndrome','no definition available'),('261519','Maternal uniparental disomy of chromosome X','Malformation syndrome','A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.'),('261524','Paternal uniparental disomy of chromosome X','Malformation syndrome','A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.'),('261529','Ring chromosome Y syndrome','Malformation syndrome','Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.'),('261534','49,XXXYY syndrome','Malformation syndrome','49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.'),('261537','Mowat-Wilson syndrome due to monosomy 2q22','Etiological subtype','no definition available'),('261552','Mowat-Wilson syndrome due to a ZEB2 point mutation','Etiological subtype','no definition available'),('261559','OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome','Etiological subtype','no definition available'),('261572','OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome','Etiological subtype','no definition available'),('261579','OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations','Etiological subtype','no definition available'),('261584','Familial adenomatous polyposis due to 5q22.2 microdeletion','Etiological subtype','no definition available'),('2616','3M syndrome','Malformation syndrome','A primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.'),('261600','Alagille syndrome due to 20p12 microdeletion','Etiological subtype','no definition available'),('261619','Alagille syndrome due to a JAG1 point mutation','Etiological subtype','no definition available'),('261629','Alagille syndrome due to a NOTCH2 point mutation','Etiological subtype','no definition available'),('261638','Okihiro syndrome due to 20q13 microdeletion','Etiological subtype','no definition available'),('261647','Okihiro syndrome due to a point mutation','Etiological subtype','no definition available'),('261652','Kleefstra syndrome due to a point mutation','Etiological subtype','no definition available'),('261697','Anomaly of chromosome 1','Category','no definition available'),('2617','Microcephalic primordial dwarfism, Montreal type','Malformation syndrome','A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.'),('261700','Anomaly of chromosome 2','Category','no definition available'),('261703','Anomaly of chromosome 3','Category','no definition available'),('261706','Anomaly of chromosome 4','Category','no definition available'),('261709','Anomaly of chromosome 5','Category','no definition available'),('261712','Anomaly of chromosome 6','Category','no definition available'),('261715','Anomaly of chromosome 7','Category','no definition available'),('261718','Anomaly of chromosome 8','Category','no definition available'),('261721','Anomaly of chromosome 9','Category','no definition available'),('261724','Anomaly of chromosome 10','Category','no definition available'),('261730','Anomaly of chromosome 11','Category','no definition available'),('261733','Anomaly of chromosome 12','Category','no definition available'),('261736','Anomaly of chromosome 13','Category','no definition available'),('261739','Anomaly of chromosome 14','Category','no definition available'),('261742','Anomaly of chromosome 15','Category','no definition available'),('261745','Anomaly of chromosome 16','Category','no definition available'),('261748','Anomaly of chromosome 17','Category','no definition available'),('261751','Anomaly of chromosome 18','Category','no definition available'),('261754','Anomaly of chromosome 19','Category','no definition available'),('261757','Anomaly of chromosome 20','Category','no definition available'),('261760','Anomaly of chromosome 21','Category','no definition available'),('261763','Anomaly of chromosome 22','Category','no definition available'); +INSERT INTO `Diseases` VALUES ('261766','Partial deletion of chromosome 1','Category','no definition available'),('261771','Partial deletion of chromosome 2','Category','no definition available'),('261776','Partial deletion of chromosome 3','Category','no definition available'),('261781','Partial deletion of chromosome 4','Category','no definition available'),('261786','Partial deletion of chromosome 5','Category','no definition available'),('261791','Partial deletion of chromosome 6','Category','no definition available'),('261796','Partial deletion of chromosome 7','Category','no definition available'),('261801','Partial deletion of chromosome 8','Category','no definition available'),('261806','Partial deletion of chromosome 9','Category','no definition available'),('261811','Partial deletion of chromosome 10','Category','no definition available'),('261816','Partial deletion of chromosome 11','Category','no definition available'),('261821','Partial deletion of the long arm of chromosome 12','Category','no definition available'),('261826','Partial deletion of chromosome 16','Category','no definition available'),('261831','Partial deletion of chromosome 17','Category','no definition available'),('261836','Partial deletion of chromosome 18','Category','no definition available'),('261841','Partial deletion of chromosome 19','Category','no definition available'),('261846','Partial deletion of chromosome 20','Category','no definition available'),('261857','Partial deletion of the short arm of chromosome 1','Category','no definition available'),('261866','Partial deletion of the short arm of chromosome 2','Category','no definition available'),('261875','Partial deletion of the short arm of chromosome 3','Category','no definition available'),('261884','Partial deletion of the short arm of chromosome 4','Category','no definition available'),('261893','Partial deletion of the short arm of chromosome 5','Category','no definition available'),('2619','Brachydactylous dwarfism, Mseleni type','Disease','Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient`s ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.'),('261902','Partial deletion of the short arm of chromosome 6','Category','no definition available'),('261911','Partial deletion of the short arm of chromosome 7','Category','no definition available'),('261920','Partial deletion of the short arm of chromosome 8','Category','no definition available'),('261929','Partial deletion of the short arm of chromosome 9','Category','no definition available'),('261938','Partial deletion of the short arm of chromosome 10','Category','no definition available'),('261947','Partial deletion of the short arm of chromosome 11','Category','no definition available'),('261956','Partial deletion of the short arm of chromosome 16','Category','no definition available'),('261965','Partial monosomy of the short arm of chromosome 17','Category','no definition available'),('261974','Partial deletion of the short arm of chromosome 18','Category','no definition available'),('261983','Partial deletion of the short arm of chromosome 19','Category','no definition available'),('261992','Partial monosomy of the short arm of chromosome 20','Category','no definition available'),('262','Duchenne and Becker muscular dystrophy','Clinical group','Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.'),('262001','Partial deletion of the long arm of chromosome 1','Category','no definition available'),('262010','Partial deletion of the long arm of chromosome 2','Category','no definition available'),('262019','Partial deletion of the long arm of chromosome 3','Category','no definition available'),('262029','Partial deletion of the long arm of chromosome 4','Category','no definition available'),('262038','Partial deletion of the long arm of chromosome 5','Category','no definition available'),('262047','Partial deletion of the long arm of chromosome 6','Category','no definition available'),('262056','Partial deletion of the long arm of chromosome 7','Category','no definition available'),('262065','Partial deletion of the long arm of chromosome 8','Category','no definition available'),('262074','Partial monosomy of the long arm of chromosome 9','Category','no definition available'),('262083','Partial monosomy of the long arm of chromosome 10','Category','no definition available'),('262092','Partial deletion of the long arm of chromosome 11','Category','no definition available'),('2621','OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome','Malformation syndrome','no definition available'),('262101','Partial deletion of the long arm of chromosome 13','Category','no definition available'),('262110','Partial deletion of the long arm of chromosome 14','Category','no definition available'),('262119','Partial deletion of the long arm of chromosome 15','Category','no definition available'),('262128','Partial deletion of the long arm of chromosome 16','Category','no definition available'),('262137','Partial deletion of the long arm of chromosome 17','Category','no definition available'),('262146','Partial deletion of the long arm of chromosome 18','Category','no definition available'),('262155','Partial deletion of the long arm of chromosome 19','Category','no definition available'),('262164','Partial deletion of the long arm of chromosome 20','Category','no definition available'),('262173','Partial deletion of the long arm of chromosome 21','Category','no definition available'),('262182','Partial deletion of the long arm of chromosome 22','Category','no definition available'),('262191','Partial duplication of chromosome 1','Category','no definition available'),('262196','Partial duplication of chromosome 2','Category','no definition available'),('262201','Partial duplication of chromosome 3','Category','no definition available'),('262206','Partial duplication of chromosome 4','Category','no definition available'),('262211','Partial trisomy/tetrasomy of chromosome 5','Category','no definition available'),('2623','Geleophysic dysplasia','Malformation syndrome','A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy``).'),('2626','OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome','Malformation syndrome','no definition available'),('262628','Partial duplication of chromosome 6','Category','no definition available'),('262633','Partial duplication of chromosome 7','Category','no definition available'),('262638','Partial duplication of chromosome 8','Category','no definition available'),('262643','Partial trisomy/tetrasomy of chromosome 9','Category','no definition available'),('262648','Partial duplication of chromosome 10','Category','no definition available'),('262653','Partial duplication of chromosome 11','Category','no definition available'),('262658','Partial trisomy/tetrasomy of the short arm of chromosome 12','Category','no definition available'),('262672','Partial duplication of chromosome 16','Category','no definition available'),('262677','Partial duplication of chromosome 17','Category','no definition available'),('262682','Partial trisomy/tetrasomy of chromosome 18','Category','no definition available'),('262687','Partial duplication of chromosome 19','Category','no definition available'),('262692','Partial trisomy of chromosome 20','Category','no definition available'),('262698','Partial duplication of the short arm of chromosome 2','Category','no definition available'),('262707','Partial duplication of the short arm of chromosome 3','Category','no definition available'),('262716','Partial duplication of the short arm of chromosome 4','Category','no definition available'),('262725','Partial trisomy/tetrasomy of the short arm of chromosome 5','Category','no definition available'),('262740','Partial duplication of the short arm of chromosome 6','Category','no definition available'),('262749','Partial duplication of the short arm of chromosome 7','Category','no definition available'),('262758','Partial duplication of the short arm of chromosome 8','Category','no definition available'),('262767','Partial trisomy/tetrasomy of the short arm of chromosome 9','Category','no definition available'),('262776','Partial duplication of the short arm of chromosome 10','Category','no definition available'),('262785','Partial duplication of the short arm of chromosome 11','Category','no definition available'),('262794','Partial duplication of the short arm of chromosome 16','Category','no definition available'),('262803','Partial duplication of the short arm of chromosome 17','Category','no definition available'),('262812','Partial trisomy/tetrasomy of the short arm of chromosome 18','Category','no definition available'),('262833','Partial duplication of the long arm of chromosome 1','Category','no definition available'),('262842','Partial duplication of the long arm of chromosome 2','Category','no definition available'),('262851','Partial duplication of the long arm of chromosome 3','Category','no definition available'),('262860','Partial duplication of the long arm of chromosome 4','Category','no definition available'),('262869','Partial trisomy of the long arm of chromosome 5','Category','no definition available'),('262878','Partial duplication of the long arm of chromosome 6','Category','no definition available'),('262887','Partial duplication of the long arm of chromosome 7','Category','no definition available'),('262896','Partial duplication of the long arm of chromosome 8','Category','no definition available'),('262905','Partial trisomy of the long arm of chromosome 9','Category','no definition available'),('262914','Partial duplication of the long arm of chromosome 10','Category','no definition available'),('262923','Partial duplication of the long arm of chromosome 11','Category','no definition available'),('262932','Partial duplication of the long arm of chromosome 13','Category','no definition available'),('262941','Partial duplication of the long arm of chromosome 14','Category','no definition available'),('262950','Partial duplication of the long arm of chromosome 15','Category','no definition available'),('262959','Partial trisomy of the long arm of chromosome 16','Category','no definition available'),('262968','Partial duplication of the long arm of chromosome 17','Category','no definition available'),('262977','Partial trisomy of the long arm of chromosome 18','Category','no definition available'),('262986','Partial duplication of the long arm of chromosome 19','Category','no definition available'),('262995','Partial trisomy of the long arm of chromosome 20','Category','no definition available'),('263','Limb-girdle muscular dystrophy','Clinical group','Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.'),('263004','Partial duplication of the long arm of chromosome 22','Category','no definition available'),('263019','Uniparental disomy of chromosome 1','Category','no definition available'),('263024','Uniparental disomy of chromosome 6','Category','no definition available'),('263029','Uniparental disomy of chromosome 7','Category','no definition available'),('263034','Uniparental disomy of chromosome 11','Category','no definition available'),('263044','Uniparental disomy of chromosome 13','Category','no definition available'),('263049','Uniparental disomy of chromosome 14','Category','no definition available'),('263054','Uniparental disomy of chromosome 15','Category','no definition available'),('263059','Uniparental disomy of chromosome 20','Category','no definition available'),('263064','Uniparental disomy of chromosome 21','Category','no definition available'),('2631','Mesomelic dwarfism-cleft palate-camptodactyly syndrome','Malformation syndrome','A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.'),('2632','Langer mesomelic dysplasia','Malformation syndrome','A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.'),('263297','Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency','Disease','Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.'),('2633','Mesomelic dysplasia, Nievergelt type','Malformation syndrome','no definition available'),('263310','Thymoma type A','Histopathological subtype','no definition available'),('263317','Thymoma type B','Histopathological subtype','no definition available'),('263324','Thymoma type AB','Histopathological subtype','no definition available'),('263331','Well-differentiated thymic neuroendocrine carcinoma','Histopathological subtype','no definition available'),('263335','Moderately-differentiated thymic neuroendocrine carcinoma','Histopathological subtype','no definition available'),('263339','Poorly differentiated thymic neuroendocrine carcinoma','Histopathological subtype','no definition available'),('263347','MRCS syndrome','Disease','MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.'),('263352','Postcardiotomy right ventricular failure','Particular clinical situation in a disease or syndrome','no definition available'),('263355','ATR-X-related syndrome','Clinical group','no definition available'),('2634','Mesomelic dwarfism, Reinhardt-Pfeiffer type','Malformation syndrome','A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.'),('263410','Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome','Disease','Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.'),('263413','Angiosarcoma','Disease','A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.'),('263417','Bartter syndrome with hypocalcemia','Clinical subtype','no definition available'),('263425','Nevus of Ota','Disease','Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.'),('263432','Nevus of Ito','Disease','Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.'),('263435','Congenital smooth muscle hamartoma','Disease','Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.'),('263440','Neuroacanthocytosis','Clinical group','Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.'),('263455','Hyperinsulinism due to HNF4A deficiency','Disease','Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).'),('263458','Hyperinsulinism due to INSR deficiency','Disease','Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.'),('263463','CHST3-related skeletal dysplasia','Disease','CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.'),('263479','Fuchs heterochromic iridocyclitis','Disease','Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.'),('26348','Acquired prothrombin deficiency','Disease','no definition available'),('263482','Spondyloepiphyseal dysplasia, Maroteaux type','Disease','Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.'),('263487','COG5-CDG','Disease','COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.'),('26349','Protein S acquired deficiency','Disease','no definition available'),('263494','DPM3-CDG','Disease','DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).'),('2635','Metatropic dysplasia','Disease','Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.'),('263501','COG4-CDG','Disease','COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.'),('263508','COG1-CDG','Disease','COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.'),('263516','Progressive myoclonic epilepsy type 3','Clinical subtype','A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.'),('263524','Acute necrotizing encephalopathy of childhood','Disease','A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.'),('263534','Acral peeling skin syndrome','Disease','A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.'),('263543','Generalized peeling skin syndrome','Disease','Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.'),('263548','Peeling skin syndrome type A','Clinical subtype','Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.'),('263553','Peeling skin syndrome type B','Clinical subtype','Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.'),('263558','Peeling skin syndrome type C','Clinical subtype','no definition available'),('2636','Microcephalic osteodysplastic primordial dwarfism types I and III','Malformation syndrome','Rare disorders characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although they were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.'),('263662','Familial multiple meningioma','Disease','Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.'),('263665','NK-cell enteropathy','Disease','Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).'),('263676','OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features','Category','no definition available'),('2637','Microcephalic osteodysplastic primordial dwarfism type II','Malformation syndrome','A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'),('263708','Complex chromosomal rearrangement','Category','no definition available'),('263711','X chromosome anomaly','Category','no definition available'),('263714','X chromosome number anomaly','Category','no definition available'),('263717','X chromosome number anomaly with female phenotype','Category','no definition available'),('263720','X chromosome number anomaly with male phenotype','Category','no definition available'),('263723','Polysomy of X chromosome','Category','no definition available'),('263726','Partial deletion of chromosome X','Category','no definition available'),('263731','Partial monosomy of the short arm of chromosome X','Category','no definition available'),('263746','Y chromosome number anomaly','Category','no definition available'),('263749','X and Y chromosomal anomaly','Category','no definition available'),('263756','Partial deletion of the long arm of chromosome X','Category','no definition available'),('263768','Partial duplication of chromosome X','Category','no definition available'),('263775','Partial duplication of the short arm of chromosome X','Category','no definition available'),('263783','Partial duplication of the long arm of chromosome X','Category','no definition available'),('263793','Uniparental disomy of chromosome X','Category','no definition available'),('263798','Y chromosomal anomaly','Category','no definition available'),('2639','Fibular aplasia-complex brachydactyly syndrome','Malformation syndrome','A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).'),('264','Autosomal dominant limb-girdle muscular dystrophy type 1B','Disease','no definition available'),('2640','Lethal short-limb dwarfism, McAlister-Crane type','Malformation syndrome','no definition available'),('2641','OBSOLETE: Micromelic dwarfism, Fryns type','Disease','no definition available'),('264200','14q22q23 microdeletion syndrome','Malformation syndrome','14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.'),('2643','Microcephalic primordial dwarfism, Toriello type','Malformation syndrome','A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.'),('264431','Partial duplication of the short arm of chromosome 1','Category','no definition available'),('264450','Trisomy 8p','Malformation syndrome','Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.'),('2645','Osteoglosphonic dysplasia','Malformation syndrome','A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.'),('264580','Glycogen storage disease due to liver phosphorylase kinase deficiency','Disease','Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.'),('2646','Parastremmatic dwarfism','Malformation syndrome','A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.'),('264656','Interstitial lung disease specific to childhood','Category','no definition available'),('264665','Primary interstitial lung disease specific to childhood','Category','no definition available'),('264670','Primary interstitial lung disease specific to childhood due to alveolar structure disorder','Category','no definition available'),('264675','Hereditary pulmonary alveolar proteinosis','Disease','A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.'),('264683','Primary interstitial lung disease specific to childhood due to alveolar vascular disorder','Category','no definition available'),('264688','Congenital chylothorax','Disease','Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.'),('264691','Isolated pulmonary capillaritis','Disease','Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.'),('264694','Interstitial lung disease specific to infancy','Category','no definition available'),('264699','Secondary interstitial lung disease specific to childhood associated with a systemic disease','Category','no definition available'),('264704','Secondary interstitial lung disease specific to childhood associated with a connective tissue disease','Category','no definition available'),('264709','Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis','Category','no definition available'),('264714','Secondary interstitial lung disease specific to childhood associated with a granulomatous disease','Category','no definition available'),('264719','Secondary interstitial lung disease specific to childhood associated with a metabolic disease','Category','no definition available'),('264724','OBSOLETE: Langerhans cell histiocytosis specific to childhood','Category','no definition available'),('264735','Interstitial lung disease specific to adulthood','Category','no definition available'),('264740','Primary interstitial lung disease specific to adulthood','Category','no definition available'),('264745','Secondary interstitial lung disease specific to adulthood associated with a systemic disease','Category','no definition available'),('264750','OBSOLETE: Langerhans cell histiocytosis specific to adulthood','Category','no definition available'),('264757','Interstitial lung disease in childhood and adulthood','Category','no definition available'),('264762','Primary interstitial lung disease in childhood and adulthood','Category','no definition available'),('2649','Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome','Malformation syndrome','no definition available'),('264930','Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder','Category','no definition available'),('264935','Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder','Category','no definition available'),('264944','Secondary interstitial lung disease in childhood and adulthood','Category','no definition available'),('264949','Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease','Category','no definition available'),('264955','OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood','Category','no definition available'),('264968','Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease','Category','no definition available'),('264973','Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis','Category','no definition available'),('264978','Drug or radiation exposure-related interstitial lung disease','Particular clinical situation in a disease or syndrome','no definition available'),('264984','Exposure-related interstitial lung disease','Category','no definition available'),('264992','Genetic interstitial lung disease','Category','no definition available'),('265','Autosomal dominant limb-girdle muscular dystrophy type 1C','Disease','no definition available'),('2650','OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome','Malformation syndrome','no definition available'),('2653','Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome','Malformation syndrome','Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.'),('2654','Syndesmodysplasic dwarfism','Disease','no definition available'),('2655','Thanatophoric dysplasia','Disease','A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.'),('2658','Lenz-Majewski hyperostotic dwarfism','Malformation syndrome','An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.'),('266','Autosomal dominant limb-girdle muscular dystrophy type 1A','Disease','A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.'),('2661','Dwarfism-tall vertebrae syndrome','Malformation syndrome','no definition available'),('2662','Keipert syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.'),('2663','Nathalie syndrome','Malformation syndrome','A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.'),('2665','Congenital mesoblastic nephroma','Disease','no definition available'),('2666','Adult familial nephronophthisis-spastic quadriparesia syndrome','Disease','A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.'),('2668','Nephropathy-deafness-hyperparathyroidism syndrome','Malformation syndrome','A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.'),('2669','Nephrosis-deafness-urinary tract-digital malformations syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.'),('267','Calpain-3-related limb-girdle muscular dystrophy R1','Disease','A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.'),('2670','Pierson syndrome','Malformation syndrome','A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.'),('2671','Neu-Laxova syndrome','Malformation syndrome','Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.'),('2672','Neuhauser-Eichner-Opitz syndrome','Malformation syndrome','no definition available'),('2673','Neurofaciodigitorenal syndrome','Malformation syndrome','Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.'),('2674','Cyprus facial-neuromusculoskeletal syndrome','Malformation syndrome','Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.'),('2675','OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome','Disease','no definition available'),('2676','Neuroectodermal-endocrine syndrome','Malformation syndrome','no definition available'),('2677','OBSOLETE: Neuroepithelioma','Disease','no definition available'),('2678','Neurofibromatosis type 6','Malformation syndrome','Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.'),('2679','OBSOLETE: Infantile axonal neuropathy','Disease','no definition available'),('26790','Pseudomyxoma peritonei','Disease','Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.'),('26791','Multiple acyl-CoA dehydrogenase deficiency','Disease','Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.'),('26792','Short chain acyl-CoA dehydrogenase deficiency','Disease','Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.'),('26793','Very long chain acyl-CoA dehydrogenase deficiency','Disease','Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.'),('268','Dysferlin-related limb-girdle muscular dystrophy R2','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.'),('2680','Hypomyelination neuropathy-arthrogryposis syndrome','Malformation syndrome','Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.'),('268114','RAS-associated autoimmune leukoproliferative disease','Disease','RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.'),('268129','Spheroid body myopathy','Disease','Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.'),('268139','Intraocular medulloepithelioma','Disease','Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.'),('268145','Classic maple syrup urine disease','Clinical subtype','Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.'),('268162','Intermediate maple syrup urine disease','Clinical subtype','Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.'),('268173','Intermittent maple syrup urine disease','Clinical subtype','Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.'),('268184','Thiamine-responsive maple syrup urine disease','Clinical subtype','Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.'),('26823','NON RARE IN EUROPE: Pigment-dispersion syndrome','Disease','no definition available'),('268249','Mycophenolate mofetil embryopathy','Malformation syndrome','Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.'),('268261','DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion','Clinical subtype','A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.'),('268316','Complication in hemodialysis','Particular clinical situation in a disease or syndrome','no definition available'),('268322','Hereditary thrombocytopenia with normal platelets','Disease','A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.'),('268337','Autosomal recessive intermediate Charcot-Marie-Tooth disease','Clinical group','no definition available'),('268357','Neural tube closure defect','Category','no definition available'),('268363','Open iniencephaly','Clinical subtype','no definition available'),('268366','Closed iniencephaly','Clinical subtype','no definition available'),('268369','Spina bifida aperta','Morphological anomaly','A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.'),('268377','Total spina bifida aperta','Clinical subtype','no definition available'),('268384','Thoracolumbosacral spina bifida aperta','Clinical subtype','no definition available'),('268388','Lumbosacral spina bifida aperta','Clinical subtype','no definition available'),('268392','Cervical spina bifida aperta','Clinical subtype','no definition available'),('268397','Cervicothoracic spina bifida aperta','Clinical subtype','no definition available'),('2686','Cyclic neutropenia','Disease','A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.'),('2687','Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome','Disease','no definition available'),('268740','Upper thoracic spina bifida aperta','Clinical subtype','no definition available'),('268744','Spina bifida cystica','Clinical group','no definition available'),('268748','Total spina bifida cystica','Clinical subtype','no definition available'),('268752','Thoracolumbosacral spina bifida cystica','Clinical subtype','no definition available'),('268758','Lumbosacral spina bifida cystica','Clinical subtype','no definition available'),('268762','Cervical spina bifida cystica','Clinical subtype','no definition available'),('268766','Cervicothoracic spina bifida cystica','Clinical subtype','no definition available'),('268770','Upper thoracic spina bifida cystica','Clinical subtype','no definition available'),('2688','Adult idiopathic neutropenia','Disease','A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.'),('268810','Posterior meningocele','Morphological anomaly','Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.'),('268813','Myelocystocele','Morphological anomaly','A rare neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.'),('268817','Cephalocele','Clinical group','no definition available'),('268820','Cranial meningocele','Morphological anomaly','no definition available'),('268823','Occipital encephalocele','Clinical subtype','no definition available'),('268826','Parietal encephalocele','Clinical subtype','no definition available'),('268829','Basal encephalocele','Clinical subtype','no definition available'),('268832','Lipoma associated with neurospinal dysraphism','Clinical group','no definition available'),('268835','Lipomyelomeningocele','Morphological anomaly','Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.'),('268838','Leptomyelolipoma','Morphological anomaly','Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.'),('268843','Malformation of the neurenteric canal, spinal cord and column','Category','no definition available'),('268861','Primary tethered cord syndrome','Morphological anomaly','Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.'),('268865','Neurenteric cyst','Morphological anomaly','A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.'),('268868','Isolated amyelia','Morphological anomaly','no definition available'),('268871','OBSOLETE: Primary syringomyelia/hydromyelia','Morphological anomaly','no definition available'),('268874','OBSOLETE: Congenital hydromyelia','Clinical subtype','no definition available'),('268882','Arnold-Chiari malformation type I','Morphological anomaly','A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.'),('2689','Intermittent neutropenia','Disease','no definition available'),('268920','Isolated megalencephaly','Clinical subtype','no definition available'),('268926','Midline cerebral malformation','Category','no definition available'),('268936','Isolated arhinencephaly','Morphological anomaly','Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.'),('268940','Bilateral polymicrogyria','Morphological anomaly','Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.'),('268943','Unilateral polymicrogyria','Morphological anomaly','Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).'),('268947','Unilateral focal polymicrogyria','Clinical subtype','Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.'),('268950','Cerebral cortical dysplasia','Clinical group','no definition available'),('268961','Isolated focal cortical dysplasia type I','Clinical subtype','no definition available'),('268973','Isolated focal cortical dysplasia type Ia','Histopathological subtype','no definition available'),('268980','Isolated focal cortical dysplasia type Ib','Histopathological subtype','no definition available'),('268987','Isolated focal cortical dysplasia type Ic','Histopathological subtype','no definition available'),('268994','Isolated focal cortical dysplasia type II','Clinical subtype','no definition available'),('269','Facioscapulohumeral dystrophy','Disease','Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.'),('2690','Neutropenia-monocytopenia-deafness syndrome','Disease','Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.'),('269001','Isolated focal cortical dysplasia type IIa','Histopathological subtype','no definition available'),('269008','Isolated focal cortical dysplasia type IIb','Histopathological subtype','no definition available'),('2691','Nevo syndrome','Malformation syndrome','no definition available'),('269190','Encephaloclastic disorder','Clinical group','no definition available'),('269194','Central nervous system cystic malformation','Category','no definition available'),('269197','Glioependymal/ependymal cyst','Morphological anomaly','Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).'),('269200','OBSOLETE: Retrocerebellar cyst','Morphological anomaly','no definition available'),('269203','Isolated cerebellar vermis agenesis','Morphological anomaly','A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.'),('269206','Isolated total cerebellar vermis agenesis','Clinical subtype','no definition available'),('269209','Isolated partial cerebellar vermis agenesis','Clinical subtype','no definition available'),('269212','Isolated Dandy-Walker malformation with hydrocephalus','Clinical subtype','no definition available'),('269215','Isolated Dandy-Walker malformation without hydrocephalus','Clinical subtype','no definition available'),('269218','Isolated unilateral hemispheric cerebellar hypoplasia','Morphological anomaly','Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.'),('269221','Isolated bilateral hemispheric cerebellar hypoplasia','Morphological anomaly','Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.'),('269224','Global cerebellar malformation','Category','no definition available'),('269229','Pontine tegmental cap dysplasia','Morphological anomaly','Pontine tegmental cap dysplasia is a rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.'),('2694','OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome','Disease','no definition available'),('2695','Bifid nose','Malformation syndrome','Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.'),('269505','Congenital communicating hydrocephalus','Clinical subtype','no definition available'),('269510','Congenital non-communicating hydrocephalus','Clinical subtype','no definition available'),('269523','Syndrome with a cerebellar malformation as a major feature','Category','no definition available'),('269528','Syndrome with microcephaly as a major feature','Category','no definition available'),('269531','Other syndrome with a central nervous system malformation as a major feature','Category','no definition available'),('269546','Syndrome with a Dandy-Walker malformation as a major feature','Category','no definition available'),('269550','Genetic non-syndromic central nervous system malformation','Category','no definition available'),('269553','Genetic cerebral malformation','Category','no definition available'),('269557','Genetic posterior fossa malformation','Category','no definition available'),('269560','Genetic cerebellar malformation','Category','no definition available'),('269564','Genetic syndrome with a central nervous system malformation as a major feature','Category','no definition available'),('269567','Genetic syndrome with a cerebellar malformation as a major feature','Category','no definition available'),('269570','Genetic syndrome with a Dandy-Walker malformation as a major feature','Category','no definition available'),('269573','Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature','Category','no definition available'),('2697','Arthrogryposis-renal dysfunction-cholestasis syndrome','Malformation syndrome','A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.'),('2698','Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome','Disease','A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.'),('2699','Median nodule of the upper lip','Malformation syndrome','Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.'),('27','Vitamin B12-unresponsive methylmalonic acidemia','Disease','Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).'),('270','Oculopharyngeal muscular dystrophy','Disease','Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.'),('2700','Noma','Disease','Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.'),('2701','Noonan syndrome-like disorder with loose anagen hair','Malformation syndrome','Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.'),('2703','Port-wine nevi-mega cisterna magna-hydrocephalus syndrome','Malformation syndrome','A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.'),('2704','Ochoa syndrome','Malformation syndrome','Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.'),('2705','OBSOLETE: Oculocerebral dysplasia','Malformation syndrome','no definition available'),('2706','OBSOLETE: Oculocerebroacral syndrome','Malformation syndrome','no definition available'),('2707','Oculocerebrofacial syndrome, Kaufman type','Malformation syndrome','Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.'),('2708','OBSOLETE: Oculocerebroosseous syndrome','Malformation syndrome','no definition available'),('2709','Oculodental syndrome, Rutherfurd type','Malformation syndrome','Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.'),('2710','Oculodentodigital dysplasia','Malformation syndrome','Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.'),('2712','Oculofaciocardiodental syndrome','Malformation syndrome','Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.'),('2713','Oculoosteocutaneous syndrome','Malformation syndrome','Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.'),('2714','Oculo-palato-cerebral syndrome','Malformation syndrome','Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.'),('2715','Severe oculo-renal-cerebellar syndrome','Malformation syndrome','no definition available'),('2716','OBSOLETE: Oculo-skeletal-renal syndrome','Malformation syndrome','no definition available'),('2717','Oculotrichoanal syndrome','Malformation syndrome','Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.'),('2718','Oculotrichodysplasia','Malformation syndrome','Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.'),('271832','Genetic soft tissue tumor','Category','no definition available'),('271835','Genetic digestive tract tumor','Category','no definition available'),('271841','Genetic cardiac tumor','Category','no definition available'),('271844','Genetic urogenital tumor','Category','no definition available'),('271847','Genetic neuroendocrine tumor','Category','no definition available'),('271853','Genetic cardiac anomaly','Category','no definition available'),('271861','Hereditary ATTR amyloidosis','Clinical group','no definition available'),('271870','Rare genetic systemic or rheumatologic disease','Category','no definition available'),('2719','Oculocerebral hypopigmentation syndrome, Cross type','Malformation syndrome','Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.'),('272','Congenital muscular dystrophy, Fukuyama type','Malformation syndrome','Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.'),('2720','Oculocerebral hypopigmentation syndrome, Preus type','Malformation syndrome','Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.'),('2721','Odonto-onycho-dermal dysplasia','Disease','Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.'),('2722','Odonto-onycho dysplasia-alopecia syndrome','Malformation syndrome','Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.'),('2723','Odontotrichomelic syndrome','Malformation syndrome','Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.'),('2724','Odontomatosis-aortae esophagus stenosis syndrome','Malformation syndrome','Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.'),('2725','Eye defects-arachnodactyly-cardiopathy syndrome','Malformation syndrome','no definition available'),('2728','Blepharophimosis-intellectual disability syndrome, Ohdo type','Malformation syndrome','Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.'),('2729','Okamoto syndrome','Malformation syndrome','Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.'),('273','Steinert myotonic dystrophy','Disease','Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.'),('2730','Postaxial tetramelic oligodactyly','Malformation syndrome','Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.'),('2731','Taurodontia-absent teeth-sparse hair syndrome','Malformation syndrome','no definition available'),('2732','Olivopontocerebellar atrophy-deafness syndrome','Malformation syndrome','Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.'),('2733','Omodysplasia','Malformation syndrome','Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.'),('2736','Lethal omphalocele-cleft palate syndrome','Malformation syndrome','Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.'),('2737','Onchocerciasis','Disease','A form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (``lizard skin``) and ``hanging groin``, which may be associated with lymphadenopathy.'),('2739','Onycho-tricho-dysplasia-neutropenia syndrome','Disease','no definition available'),('274','Bernard-Soulier syndrome','Disease','Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.'),('2741','Ophthalmomandibulomelic dysplasia','Malformation syndrome','Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.'),('2742','OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome','Disease','no definition available'),('2743','Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome','Malformation syndrome','Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud`s syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.'),('2744','Horizontal gaze palsy with progressive scoliosis','Disease','Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.'),('2745','Opitz G/BBB syndrome','Malformation syndrome','Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS) (see these terms).'),('2746','Opsismodysplasia','Disease','Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.'),('2749','Oromandibular-limb hypogenesis syndrome','Clinical group','Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).'),('275','Severe combined immunodeficiency due to DCLRE1C deficiency','Disease','Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.'),('2750','Orofaciodigital syndrome type 1','Malformation syndrome','Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.'),('2751','Orofaciodigital syndrome type 2','Malformation syndrome','Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.'),('2752','Orofaciodigital syndrome type 3','Malformation syndrome','Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.'),('2753','Orofaciodigital syndrome type 4','Malformation syndrome','Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.'),('2754','Orofaciodigital syndrome type 6','Malformation syndrome','Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.'),('2755','Orofaciodigital syndrome type 8','Malformation syndrome','Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.'),('275517','Autoimmune lymphoproliferative syndrome with recurrent viral infections','Disease','A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.'),('275523','Dianzani autoimmune lymphoproliferative disease','Disease','Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.'),('275534','Myostatin-related muscle hypertrophy','Disease','no definition available'),('275543','L1 syndrome','Malformation syndrome','L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms).'),('275555','Preeclampsia','Disease','Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.'),('2756','Orofaciodigital syndrome type 10','Malformation syndrome','Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.'),('275729','Rare hemorrhagic disorder due to a constitutional thrombocytopenia','Category','no definition available'),('275736','Rare hemorrhagic disorder due to a qualitative platelet defect','Category','no definition available'),('275742','Genetic infertility','Category','no definition available'),('275745','Alpha-thalassemia and related diseases','Category','no definition available'),('275749','Beta-thalassemia and related diseases','Category','no definition available'),('275752','Sickle cell disease and related diseases','Category','no definition available'),('275761','Lysosomal acid lipase deficiency','Disease','A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.'),('275766','Idiopathic pulmonary arterial hypertension','Etiological subtype','Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.'),('275777','Heritable pulmonary arterial hypertension','Etiological subtype','Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.'),('275786','Drug- or toxin-induced pulmonary arterial hypertension','Clinical group','Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.'),('275791','Pulmonary arterial hypertension associated with another disease','Category','Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.'),('275798','Pulmonary arterial hypertension associated with connective tissue disease','Clinical group','Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.'),('275803','Pulmonary arterial hypertension associated with congenital heart disease','Clinical group','Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.'),('275808','Pulmonary arterial hypertension associated with HIV infection','Clinical group','Pulmonary arterial hypertension (PAH, see this entry) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.'),('275813','Pulmonary arterial hypertension associated with portal hypertension','Clinical group','Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.'),('275823','Pulmonary arterial hypertension associated with schistosomiasis','Clinical group','Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).'),('275828','Pulmonary arterial hypertension associated with chronic hemolytic anemia','Clinical group','Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.'),('275837','Pulmonary hypertension owing to lung disease and/or hypoxia','Clinical group','no definition available'),('275844','Pulmonary hypertension with unclear multifactorial mechanism','Clinical group','no definition available'),('275853','Syndrome with pulmonary hypertension as a major feature','Category','no definition available'),('275864','Behavioral variant of frontotemporal dementia','Disease','Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.'),('275872','Frontotemporal dementia with motor neuron disease','Disease','Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.'),('2759','Imperforate oropharynx-costovertebral anomalies syndrome','Malformation syndrome','Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.'),('275938','Hemolytic disease due to fetomaternal alloimmunization','Category','no definition available'),('275944','Hemolytic disease of the newborn with Kell alloimmunization','Disease','A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.'),('276','T-B+ severe combined immunodeficiency due to gamma chain deficiency','Disease','Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.'),('2760','OSLAM syndrome','Malformation syndrome','OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.'),('276058','Genetic neurodegenerative disease with dementia','Category','no definition available'),('276061','Genetic frontotemporal degeneration with dementia','Category','no definition available'),('276066','Bile acid CoA ligase deficiency and defective amidation','Disease','Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.'),('276142','Rare tumor of salivary glands','Category','no definition available'),('276145','Malignant epithelial tumor of salivary glands','Disease','Malignant epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.'),('276148','Benign epithelial tumor of salivary glands','Disease','Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.'),('276152','Multiple endocrine neoplasia type 4','Disease','Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.'),('276161','Multiple endocrine neoplasia','Clinical group','Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.'),('276174','Idiopathic recurrent stupor','Disease','A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.'),('276183','Spinocerebellar ataxia type 32','Disease','An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.'),('276193','Spinocerebellar ataxia type 35','Disease','An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.'),('276198','Spinocerebellar ataxia type 36','Disease','An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.'),('2762','Progressive osseous heteroplasia','Malformation syndrome','Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.'),('276212','Mucopolysaccharidosis type 6, rapidly progressing','Clinical subtype','no definition available'),('276223','Mucopolysaccharidosis type 6, slowly progressing','Clinical subtype','no definition available'),('276234','Non-syndromic male infertility due to sperm motility disorder','Disease','Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.'),('276238','Machado-Joseph disease type 1','Clinical subtype','Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.'),('276241','Machado-Joseph disease type 2','Clinical subtype','Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.'),('276244','Machado-Joseph disease type 3','Clinical subtype','Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.'),('276249','OBSOLETE: Xeroderma pigmentosum complementation group A','Clinical subtype','no definition available'),('276252','OBSOLETE: Xeroderma pigmentosum complementation group B','Clinical subtype','no definition available'),('276255','OBSOLETE: Xeroderma pigmentosum complementation group C','Clinical subtype','no definition available'),('276258','OBSOLETE: Xeroderma pigmentosum complementation group D','Clinical subtype','no definition available'),('276261','OBSOLETE: Xeroderma pigmentosum complementation group E','Clinical subtype','no definition available'),('276264','OBSOLETE: Xeroderma pigmentosum complementation group F','Clinical subtype','no definition available'),('276267','OBSOLETE: Xeroderma pigmentosum complementation group G','Clinical subtype','no definition available'),('276271','NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia','Biological anomaly','no definition available'),('276280','Hemihyperplasia-multiple lipomatosis syndrome','Malformation syndrome','Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.'),('2763','Osteocraniostenosis','Malformation syndrome','Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.'),('276399','Familial multinodular goiter','Disease','no definition available'),('2764','Osteochondritis dissecans','Disease','Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.'),('276402','Limbic encephalitis with caspr2 antibodies','Disease','Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.'),('276405','Hyperbiliverdinemia','Disease','Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.'),('276413','10q22.3q23.3 microdeletion syndrome','Malformation syndrome','10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.'),('276422','10q22.3q23.3 microduplication syndrome','Malformation syndrome','10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.'),('276429','Hypnic headache','Disease','A rare headache characterized by recurrent brief, intense headache attacks occurring exclusively during sleep, typically at the same time of the night, causing the patient to wake up. The pain usually lasts more than 15 minutes after waking. It is mostly bilateral and may be associated with nausea, photophobia, or phonophobia, while characteristically no autonomic symptoms are present.'),('276432','Ogden syndrome','Malformation syndrome','Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.'),('276435','Lower motor neuron syndrome with late-adult onset','Disease','A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.'),('2765','OBSOLETE: Hypertrichotic osteochondrodysplasia','Malformation syndrome','no definition available'),('276525','Familial hyperinsulinism','Category','no definition available'),('276556','Hyperinsulinism due to UCP2 deficiency','Disease','HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.'),('276575','Autosomal dominant hyperinsulinism due to SUR1 deficiency','Disease','A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually present a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).'),('276580','Autosomal dominant hyperinsulinism due to Kir6.2 deficiency','Disease','A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).'),('276585','Diazoxide-resistant hyperinsulinism','Clinical group','Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.'),('276598','Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.'),('276603','Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.'),('276608','Non-insulinoma pancreatogenous hypoglycemia syndrome','Disease','no definition available'),('276621','Sporadic pheochromocytoma/secreting paraganglioma','Disease','A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.'),('276624','OBSOLETE: Sporadic pheochromocytoma','Clinical subtype','no definition available'),('276627','OBSOLETE: Sporadic secreting paraganglioma','Clinical subtype','no definition available'),('276630','Symptomatic form of Coffin-Lowry syndrome in female carriers','Malformation syndrome','no definition available'),('2767','Carpotarsal osteochondromatosis','Malformation syndrome','Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.'),('2768','Blount disease','Malformation syndrome','Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.'),('2769','Familial osteodysplasia, Anderson type','Malformation syndrome','Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.'),('277','Severe combined immunodeficiency due to adenosine deaminase deficiency','Disease','Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.'),('2770','Nasu-Hakola disease','Malformation syndrome','Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.'),('2771','Bruck syndrome','Malformation syndrome','Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.'),('2772','Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome','Malformation syndrome','Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.'),('2773','Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome','Malformation syndrome','Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.'),('2774','Multicentric carpo-tarsal osteolysis with or without nephropathy','Malformation syndrome','Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.'),('2775','Autosomal recessive carpotarsal osteolysis','Disease','no definition available'),('2776','Autosomal recessive distal osteolysis syndrome','Malformation syndrome','An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.'),('2777','Osteomesopyknosis','Malformation syndrome','Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.'),('2778','OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis','Clinical subtype','no definition available'),('2779','Osteopathia striata-pigmentary dermopathy-white forelock syndrome','Malformation syndrome','Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.'),('278','OBSOLETE: Corticobasal degeneration','Disease','no definition available'),('2780','Osteopathia striata-cranial sclerosis syndrome','Malformation syndrome','Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.'),('2781','Osteopetrosis and related disorders','Clinical group','Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.'),('2783','Autosomal dominant osteopetrosis type 1','Malformation syndrome','A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.'),('2785','Osteopetrosis with renal tubular acidosis','Disease','Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.'),('2786','Osteoporosis-oculocutaneous hypopigmentation syndrome','Malformation syndrome','Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.'),('2787','Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome','Malformation syndrome','Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.'),('2788','Osteoporosis-pseudoglioma syndrome','Disease','Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.'),('2789','Lateral meningocele syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.'),('279','NON RARE IN EUROPE: Age-related macular degeneration','Disease','no definition available'),('2790','Endosteal hyperostosis, Worth type','Malformation syndrome','Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.'),('2791','Otodental syndrome','Malformation syndrome','Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.'),('2792','Otofaciocervical syndrome','Malformation syndrome','Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.'),('2793','Otoonychoperoneal syndrome','Malformation syndrome','no definition available'),('2794','NON RARE IN EUROPE: Familial otosclerosis','Disease','no definition available'),('2795','Fowler urethral sphincter dysfunction syndrome','Disease','Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.'),('2796','Pachydermoperiostosis','Malformation syndrome','Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.'),('2798','Pachygyria-intellectual disability-epilepsy syndrome','Malformation syndrome','A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.'),('279882','Spasmus nutans','Clinical syndrome','Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.'),('279888','Acute endophthalmitis','Clinical subtype','no definition available'),('279891','Chronic endophthalmitis','Clinical subtype','no definition available'),('279894','Toxic maculopathy due to antimalarial drugs','Disease','Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull`s-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.'),('279897','Primary oculocerebral lymphoma','Disease','Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin`s lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.'),('279904','Primary intraocular lymphoma','Disease','no definition available'),('279911','Primary organ-specific lymphoma','Category','no definition available'),('279914','Intermediate uveitis','Disease','no definition available'),('279919','Infectious posterior uveitis','Disease','no definition available'),('279922','Infectious anterior uveitis','Disease','no definition available'),('279925','Infectious panuveitis','Disease','no definition available'),('279928','Paraneoplastic uveitis','Disease','no definition available'),('279934','Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency','Disease','A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.'),('279943','Hereditary neutrophilia','Disease','A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspena, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.'),('279947','Postorgasmic illness syndrome','Clinical syndrome','Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.'),('28','Vitamin B12-responsive methylmalonic acidemia','Disease','An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).'),('280','Wolf-Hirschhorn syndrome','Malformation syndrome','A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.'),('2800','Extramammary Paget disease','Disease','no definition available'),('280062','Calciphylaxis','Disease','An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.'),('280065','Calciphylaxis cutis','Clinical subtype','Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.'),('280068','Visceral calciphylaxis','Clinical subtype','Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.'),('280071','ALG11-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).'),('2801','Juvenile Paget disease','Malformation syndrome','Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.'),('280110','NON RARE IN EUROPE: Paget disease of bone','Disease','no definition available'),('280133','Complement component 3 deficiency','Disease','Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.'),('280142','Severe combined immunodeficiency due to LCK deficiency','Disease','A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.'),('280183','Methylmalonic aciduria due to transcobalamin receptor defect','Biological anomaly','Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.'),('280195','Septopreoptic holoprosencephaly','Clinical subtype','Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.'),('2802','X-linked sideroblastic anemia and spinocerebellar ataxia','Disease','A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.'),('280200','Microform holoprosencephaly','Malformation syndrome','Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.'),('280205','Laryngotracheoesophageal cleft type 0','Clinical subtype','Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.'),('280210','Pelizaeus-Merzbacher disease, connatal form','Clinical subtype','The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).'),('280219','Pelizaeus-Merzbacher disease, classic form','Clinical subtype','The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.'),('280224','Pelizaeus-Merzbacher disease, transitional form','Clinical subtype','The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).'),('280229','Pelizaeus-Merzbacher disease in female carriers','Clinical subtype','Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the PLP1 gene (Xq22).'),('280234','Null syndrome','Clinical subtype','The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.'),('280270','Pelizaeus-Merzbacher-like disease','Disease','Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).'),('280282','Pelizaeus-Merzbacher-like disease due to GJC2 mutation','Clinical subtype','no definition available'),('280288','Pelizaeus-Merzbacher-like disease due to HSPD1 mutation','Clinical subtype','no definition available'),('280293','Pelizaeus-Merzbacher-like disease due to AIMP1 mutation','Clinical subtype','no definition available'),('280302','Autoimmune pancreatitis type 1','Clinical subtype','Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.'),('280315','Autoimmune pancreatitis type 2','Clinical subtype','Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.'),('280325','Distal monosomy 12p','Malformation syndrome','A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.'),('280333','Alpha-dystroglycan-related limb-girdle muscular dystrophy R16','Disease','A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.'),('280342','Rare systemic or rheumatological disease of childhood','Category','no definition available'),('280356','PLIN1-related familial partial lipodystrophy','Disease','A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.'),('280365','Autosomal semi-dominant severe lipodystrophic laminopathy','Disease','no definition available'),('280369','Rare pediatric vasculitis','Category','no definition available'),('280373','Rare pediatric systemic disease','Category','no definition available'),('280379','Erythropoietic uroporphyria associated with myeloid malignancy','Disease','A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.'),('280384','Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome','Disease','Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.'),('280397','Familial Alzheimer-like prion disease','Disease','Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.'),('2804','W syndrome','Malformation syndrome','W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.'),('280400','Inherited human prion disease','Category','no definition available'),('280403','Familial omphalocele syndrome with facial dysmorphism','Malformation syndrome','Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.'),('280406','Familial steroid-resistant nephrotic syndrome with sensorineural deafness','Disease','Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.'),('2805','Partial pancreatic agenesis','Morphological anomaly','Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.'),('280553','Fatal infantile hypertonic myofibrillar myopathy','Disease','Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.'),('280558','Warsaw breakage syndrome','Malformation syndrome','no definition available'),('280569','OBSOLETE: Rapidly progressive glomerulonephritis','Disease','no definition available'),('280576','Nestor-Guillermo progeria syndrome','Malformation syndrome','Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.'),('280586','Chondrodysplasia with joint dislocations, gPAPP type','Malformation syndrome','Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.'),('280598','Hereditary sensorimotor neuropathy with hyperelastic skin','Disease','Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatus, dolichocephaly) may also be associated.'),('2806','Subacute sclerosing leukoencephalitis','Disease','A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.'),('280615','Hemoglobinopathy Toms River','Disease','Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gama subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.'),('280620','Progressive myoclonic epilepsy type 6','Disease','A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.'),('280628','Familial progressive hyper- and hypopigmentation','Disease','Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.'),('280633','Multiple congenital anomalies-hypotonia-seizures syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (incl. gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.'),('280640','Occipital pachygyria and polymicrogyria','Malformation syndrome','Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.'),('280651','Acrodysostosis with multiple hormone resistance','Disease','no definition available'),('280654','Autosomal recessive nail dysplasia','Disease','Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.'),('280663','Hermansky-Pudlak syndrome type 9','Clinical subtype','no definition available'),('280671','Megaconial congenital muscular dystrophy','Disease','A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.'),('280679','Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome','Disease','Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.'),('2807','Papilloma of choroid plexus','Disease','Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.'),('280763','Severe intellectual disability and progressive spastic paraplegia','Disease','Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.'),('280774','Generalized essential telangiectasia','Disease','A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.'),('280779','Cutaneous collagenous vasculopathy','Disease','Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.'),('280785','Bullous diffuse cutaneous mastocytosis','Clinical subtype','Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.'),('280794','Pseudoxanthomatous diffuse cutaneous mastocytosis','Clinical subtype','Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.'),('2808','Laryngeal abductor paralysis','Malformation syndrome','no definition available'),('280802','Intralobar congenital pulmonary sequestration','Clinical subtype','no definition available'),('280811','Extralobar congenital pulmonary sequestration','Clinical subtype','no definition available'),('280821','Communicating congenital bronchopulmonary-foregut malformation','Clinical subtype','no definition available'),('280827','Congenital pulmonary airway malformation type 0','Clinical subtype','no definition available'),('280832','Congenital pulmonary airway malformation type 1','Clinical subtype','no definition available'),('280840','Congenital pulmonary airway malformation type 2','Clinical subtype','no definition available'),('280847','Congenital pulmonary airway malformation type 3','Clinical subtype','no definition available'),('280854','Congenital pulmonary airway malformation type 4','Clinical subtype','no definition available'),('280886','Anterior uveitis','Category','no definition available'),('280892','Posterior uveitis','Category','no definition available'),('280898','Panuveitis','Category','no definition available'),('2809','Familial recurrent peripheral facial palsy','Disease','Familial recurrent peripheral facial palsy is a rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell`s phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.'),('280914','Idiopathic anterior uveitis','Disease','no definition available'),('280917','Idiopathic posterior uveitis','Disease','Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.'),('280921','Idiopathic panuveitis','Disease','Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.'),('280926','Systemic diseases with anterior uveitis','Category','no definition available'),('280930','Systemic diseases with posterior uveitis','Category','no definition available'),('280933','Systemic diseases with panuveitis','Category','no definition available'),('281','Monosomy 5p','Malformation syndrome','A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.'),('2810','NON RARE IN EUROPE: Idiopathic facial palsy','Disease','no definition available'),('281082','Inherited non-syndromic ichthyosis','Category','no definition available'),('281085','Inherited ichthyosis syndromic form','Category','no definition available'),('281090','Syndromic recessive X-linked ichthyosis','Disease','Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.'),('281097','Autosomal recessive congenital ichthyosis','Clinical group','no definition available'),('281103','Keratinopathic ichthyosis','Clinical group','no definition available'),('281122','Self-improving collodion baby','Disease','Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.'),('281127','Acral self-healing collodion baby','Disease','A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.'),('281139','Annular epidermolytic ichthyosis','Disease','A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.'),('281190','Congenital reticular ichthyosiform erythroderma','Disease','no definition available'),('2812','Parana hard skin syndrome','Disease','Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.'),('281201','Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome','Disease','Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.'),('281210','X-linked ichthyosis syndrome','Clinical group','no definition available'),('281217','Autosomal ichthyosis syndrome','Category','no definition available'),('281222','Autosomal ichthyosis syndrome with prominent hair abnormalities','Category','no definition available'),('281234','OBSOLETE: Congenital ichthyosis with trichothiodystrophy','Clinical group','no definition available'),('281238','Autosomal ichthyosis syndrome with prominent neurologic signs','Category','no definition available'),('281241','Autosomal ichthyosis syndrome with fatal disease course','Category','no definition available'),('281244','Autosomal ichthyosis syndrome with other associated signs','Category','no definition available'),('2815','Spastic paraparesis-deafness syndrome','Malformation syndrome','A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.'),('2816','Spastic paraplegia-epilepsy-intellectual disability syndrome','Disease','no definition available'),('2818','Spastic paraplegia-glaucoma-intellectual disability syndrome','Disease','Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.'),('2819','Spastic paraplegia-facial-cutaneous lesions syndrome','Malformation syndrome','A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.'),('282','Frontotemporal dementia','Clinical group','Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).'),('2820','Spastic paraplegia-nephritis-deafness syndrome','Clinical syndrome','Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.'),('2821','Spastic paraplegia-neuropathy-poikiloderma syndrome','Disease','A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.'),('282124','Partial deletion of chromosome 12','Category','no definition available'),('282166','Inherited Creutzfeldt-Jakob disease','Disease','Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.'),('282196','Autoimmune polyendocrinopathy','Clinical group','no definition available'),('2822','Autosomal recessive spastic paraplegia type 11','Disease','A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.'),('2823','OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome','Malformation syndrome','no definition available'),('2824','Paraplegia-intellectual disability-hyperkeratosis syndrome','Malformation syndrome','A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis.'),('2825','PARC syndrome','Malformation syndrome','PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.'),('2826','Spastic paraplegia-precocious puberty syndrome','Disease','Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.'),('2828','Young-onset Parkinson disease','Disease','Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.'),('2829','Partington-Anderson syndrome','Malformation syndrome','no definition available'),('283','Demodicidosis','Disease','Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.'),('2831','Rhizomelic dysplasia, Patterson-Lowry type','Malformation syndrome','Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.'),('2832','Short tarsus-absence of lower eyelashes syndrome','Malformation syndrome','Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.'),('2833','Stiff skin syndrome','Disease','Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.'),('2834','Wrinkly skin syndrome','Clinical subtype','Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).'),('2835','Pectus excavatum-macrocephaly-dysplastic nails syndrome','Malformation syndrome','Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.'),('2836','PEHO syndrome','Disease','PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.'),('2837','Pellagra-like skin rash-neurological manifestations syndrome','Disease','no definition available'),('28378','Tyrosinemia type 2','Disease','Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.'),('2838','Renal caliceal diverticuli-deafness syndrome','Malformation syndrome','Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.'),('2839','Pelvis-shoulder dysplasia','Malformation syndrome','Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.'),('284','Alveolar echinococcosis','Disease','A rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.'),('2840','Pelvic dysplasia-arthrogryposis of lower limbs syndrome','Malformation syndrome','Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.'),('2841','Familial benign chronic pemphigus','Disease','Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).'),('284130','NON RARE IN EUROPE: Rheumatoid arthritis','Disease','no definition available'),('284139','Larsen-like syndrome, B3GAT3 type','Malformation syndrome','Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.'),('284149','Craniosynostosis-dental anomalies','Malformation syndrome','Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.'),('284160','8q21.11 microdeletion syndrome','Malformation syndrome','8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid`s bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.'),('284169','Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion','Clinical subtype','Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.'),('284180','Xp22.13p22.2 duplication syndrome','Malformation syndrome','Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.'),('2842','Penoscrotal transposition','Morphological anomaly','Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).'),('284227','TEMPI syndrome','Clinical syndrome','TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.'),('284232','Autosomal dominant Charcot-Marie-Tooth disease type 2O','Disease','A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.'),('284247','Familial retinal arterial macroaneurysm','Malformation syndrome','Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.'),('284264','IgG4-related disease','Clinical group','no definition available'),('284271','Autosomal recessive cerebellar ataxia-psychomotor delay syndrome','Disease','A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.'),('284282','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency','Disease','A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.'),('284289','Adult-onset autosomal recessive cerebellar ataxia','Disease','A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.'),('2843','Pentosuria','Disease','Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.'),('284324','Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia','Disease','A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.'),('284332','Infantile-onset autosomal recessive nonprogressive cerebellar ataxia','Disease','A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.'),('284339','Pontocerebellar hypoplasia type 7','Malformation syndrome','Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.'),('284343','Pleuropulmonary blastoma familial tumor susceptibility syndrome','Clinical subtype','no definition available'),('284362','Fetal lung interstitial tumor','Clinical subtype','no definition available'),('284385','Familial intrahepatic cholestasis','Category','no definition available'),('284388','Reversible cerebral vasoconstriction syndrome','Clinical syndrome','Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.'),('284395','Well-differentiated fetal adenocarcinoma of the lung','Disease','Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.'),('284400','Small cell carcinoma of the bladder','Disease','Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.'),('284408','Glycerol kinase deficiency, infantile form','Clinical subtype','Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.'),('284411','Glycerol kinase deficiency, juvenile form','Clinical subtype','Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.'),('284414','Glycerol kinase deficiency, adult form','Clinical subtype','A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.'),('284417','Phosphoserine aminotransferase deficiency, infantile/juvenile form','Etiological subtype','Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.'),('284426','Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency','Clinical subtype','no definition available'),('284435','Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency','Clinical subtype','no definition available'),('284448','CLIPPERS','Disease','CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.'),('284454','Acute zonal occult outer retinopathy','Disease','A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.'),('284460','Acute annular outer retinopathy','Disease','A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.'),('28455','OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus','Disease','no definition available'),('2846','Congenital pericardium anomaly','Category','Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).'),('2847','Pericardial and diaphragmatic defect','Malformation syndrome','Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.'),('284786','Qualitative or quantitative defects of troponin','Category','no definition available'),('284790','Qualitative or quantitative defects of tropomyosin','Category','no definition available'),('2848','Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome','Disease','Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.'),('284804','Ocular albinism','Clinical group','no definition available'),('284811','Syndromic oculocutaneous albinism','Category','no definition available'),('284814','Disorder of phenylalanine metabolism','Category','no definition available'),('284818','Disorder of tyrosine metabolism','Category','no definition available'),('2849','Perlman syndrome','Malformation syndrome','Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.'),('284963','Marfan syndrome type 1','Clinical subtype','no definition available'),('284973','Marfan syndrome type 2','Clinical subtype','no definition available'),('284979','Neonatal Marfan syndrome','Disease','Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a `senile` facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.'),('284984','Aneurysm-osteoarthritis syndrome','Disease','A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.'),('284993','Marfan and Marfan-related disorders','Category','no definition available'),('285','Hypermobile Ehlers-Danlos syndrome','Disease','Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.'),('2850','Alopecia-intellectual disability syndrome','Disease','An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.'),('285014','Rare disease with thoracic aortic aneurysm and aortic dissection','Category','no definition available'),('2853','Serpentine fibula-polycystic kidneys syndrome','Disease','no definition available'),('2854','Fuhrmann syndrome','Malformation syndrome','Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.'),('2855','Perrault syndrome','Disease','Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.'),('2856','Persistent Müllerian duct syndrome','Malformation syndrome','Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.'),('285657','Disorder of folate metabolism and transport','Category','no definition available'),('286','Vascular Ehlers-Danlos syndrome','Disease','A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.'),('2860','OBSOLETE: Preeyasombat-Varavithya syndrome','Malformation syndrome','no definition available'),('2861','OBSOLETE: Short stature-microcephaly-heart defect syndrome','Malformation syndrome','no definition available'),('2863','Short stature-wormian bones-dextrocardia syndrome','Malformation syndrome','A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).'),('2864','OBSOLETE: Short stature-prognathism-short femoral necks syndrome','Malformation syndrome','no definition available'),('2865','Short stature-webbed neck-heart disease syndrome','Malformation syndrome','Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.'),('2866','Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome','Malformation syndrome','A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.'),('2867','Short stature, Brussels type','Malformation syndrome','This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.'),('2868','Short stature-valvular heart disease-characteristic facies syndrome','Malformation syndrome','Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.'),('2869','Peutz-Jeghers syndrome','Disease','A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.'),('287','Classical Ehlers-Danlos syndrome','Disease','A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.'),('2870','NON RARE IN EUROPE: Peyronie syndrome','Disease','no definition available'),('2871','Pfeiffer-Palm-Teller syndrome','Malformation syndrome','Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.'),('2872','Cardiocranial syndrome, Pfeiffer type','Malformation syndrome','A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.'),('2874','Phakomatosis pigmentokeratotica','Malformation syndrome','Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.'),('2875','Phakomatosis pigmentovascularis','Disease','no definition available'),('2876','PHAVER syndrome','Malformation syndrome','Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.'),('2878','Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome','Malformation syndrome','Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.'),('2879','Phocomelia, Schinzel type','Malformation syndrome','Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.'),('288','Hereditary elliptocytosis','Disease','Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.'),('2880','Phosphoenolpyruvate carboxykinase deficiency','Disease','Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.'),('2881','Cutaneous photosensitivity-lethal colitis syndrome','Disease','Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease (see this term) characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.'),('2882','Sitosterolemia','Disease','Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.'),('2884','Piebaldism','Disease','Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.'),('2885','Piebald trait-neurologic defects syndrome','Malformation syndrome','Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.'),('2886','TARP syndrome','Malformation syndrome','TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.'),('2888','Pierre Robin syndrome-faciodigital anomaly syndrome','Malformation syndrome','This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.'),('2889','Pili torti','Disease','Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).'),('289','Ellis Van Creveld syndrome','Malformation syndrome','Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.'),('2890','Pili torti-onychodysplasia syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.'),('289098','Disorders of vitamin D metabolism','Category','no definition available'),('2891','Pili torti-developmental delay-neurological abnormalities syndrome','Malformation syndrome','Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.'),('289103','Hypocalcemic rickets','Clinical group','Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms).'),('289157','Hypocalcemic vitamin D-dependent rickets','Disease','Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.'),('289176','Autosomal recessive hypophosphatemic rickets','Disease','A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.'),('2892','Pilodental dysplasia-refractive errors syndrome','Malformation syndrome','Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.'),('289266','Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation','Disease','Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.'),('289290','Hypermethioninemia encephalopathy due to adenosine kinase deficiency','Disease','Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.'),('289307','Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency','Disease','Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.'),('289326','Tropical spastic paraparesis','Disease','Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.'),('289347','Infective dermatitis associated with HTLV-1','Disease','Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms).'),('289356','Primary non-gestational choriocarcinoma of ovary','Disease','Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism.'),('289362','Non-central nervous system-localized embryonal carcinoma','Clinical subtype','no definition available'),('289365','Familial vesicoureteral reflux','Malformation syndrome','Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.'),('289377','Early-onset myopathy with fatal cardiomyopathy','Disease','A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.'),('289380','Myosclerosis','Disease','Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.'),('289385','Malignancy diagnosed during pregnancy','Particular clinical situation in a disease or syndrome','no definition available'),('289390','Primary Sjögren syndrome','Disease','A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.'),('289395','NON RARE IN EUROPE: Secondary Sjögren syndrome','Disease','no definition available'),('2894','OBSOLETE: Pilotto syndrome','Malformation syndrome','no definition available'),('289465','Isolated congenital adermatoglyphia','Disease','Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.'),('289478','Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome','Disease','A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.'),('289483','Intellectual disability-alacrima-achalasia syndrome','Disease','Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.'),('289494','4H leukodystrophy','Disease','A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.'),('289499','Congenital cataract microcornea with corneal opacity','Malformation syndrome','no definition available'),('2895','Pinsky-Di George-Harley syndrome','Malformation syndrome','no definition available'),('289504','Combined malonic and methylmalonic acidemia','Disease','Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.'),('289513','12q15q21.1 microdeletion syndrome','Malformation syndrome','12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.'),('289522','Microtriplication 11q24.1','Malformation syndrome','Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.'),('289527','OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency','Disease','no definition available'),('289539','BAP1-related tumor predisposition syndrome','Disease','BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.'),('289548','Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency','Disease','Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.'),('289553','Dysmorphism-conductive hearing loss-heart defect syndrome','Malformation syndrome','Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid`s bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.'),('289560','Mitochondrial membrane protein-associated neurodegeneration','Disease','A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.'),('289573','Multiple mitochondrial dysfunctions syndrome','Clinical group','Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.'),('289586','Exfoliative ichthyosis','Disease','Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.'),('289596','Juvenile nasopharyngeal angiofibroma','Disease','Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.'),('2896','Pitt-Hopkins syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.'),('289601','Hereditary arterial and articular multiple calcification syndrome','Disease','Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.'),('289635','Rare virus associated tumor','Category','no definition available'),('289638','Epstein-Barr Virus-related tumor','Category','no definition available'),('289644','Epstein-Barr virus-associated malignant lymphoproliferative disorder','Category','no definition available'),('289651','Epstein-Barr Virus-associated carcinoma','Category','no definition available'),('289656','Epstein-Barr Virus-associated mesenchymal tumor','Category','no definition available'),('289661','Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly','Disease','Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.'),('289666','Plasmablastic lymphoma','Disease','no definition available'),('289682','Lymphoepithelial-like carcinoma','Disease','Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.'),('289685','Myopericytoma','Disease','A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.'),('2897','Pityriasis rubra pilaris','Disease','Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.'),('2898','X-linked intellectual disability-plagiocephaly syndrome','Malformation syndrome','A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.'),('289825','Late-onset primary lymphedema without systemic or visceral involvement','Clinical group','no definition available'),('289829','Disorder of tryptophan metabolism','Category','no definition available'),('289832','Disorder of lysine and hydroxylysine metabolism','Category','no definition available'),('289841','Disorder of glutamine metabolism','Category','no definition available'),('289846','Glutathione synthetase deficiency with 5-oxoprolinuria','Clinical subtype','no definition available'),('289849','Glutathione synthetase deficiency without 5-oxoprolinuria','Clinical subtype','no definition available'),('289857','Neonatal glycine encephalopathy','Clinical subtype','Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.'),('289860','Infantile glycine encephalopathy','Clinical subtype','Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.'),('289863','Atypical glycine encephalopathy','Clinical subtype','A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.'),('289866','Disorder of proline metabolism','Category','no definition available'),('289869','Disorder of ornithine metabolism','Category','no definition available'),('289877','Transient hyperammonemia of the newborn','Particular clinical situation in a disease or syndrome','no definition available'),('289891','Hypermethioninemia due to glycine N-methyltransferase deficiency','Disease','Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.'),('289899','Organic aciduria','Category','no definition available'),('2899','Brachyolmia-amelogenesis imperfecta syndrome','Malformation syndrome','An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.'),('289902','3-methylglutaconic aciduria','Clinical group','no definition available'),('289916','Vitamin B12-unresponsive methylmalonic acidemia type mut0','Clinical subtype','Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.'),('29','Mevalonic aciduria','Disease','A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.'),('290','Congenital rubella syndrome','Disease','An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.'),('2900','Leri pleonosteosis','Malformation syndrome','Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a `spade-shaped` appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.'),('2901','Neuralgic amyotrophy','Disease','Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.'),('2902','Idiopathic chronic eosinophilic pneumonia','Disease','Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).'),('2903','Familial spontaneous pneumothorax','Disease','Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.'),('2905','POEMS syndrome','Disease','POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.'),('2907','Hereditary acrokeratotic poikiloderma','Disease','no definition available'),('29072','Hereditary pheochromocytoma-paraganglioma','Disease','A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.'),('29073','Multiple myeloma','Disease','Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).'),('2908','Kindler syndrome','Disease','Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.'),('290836','Systemic disease with skin involvement','Category','no definition available'),('290839','Autoinflammatory syndrome with immune deficiency','Category','no definition available'),('290842','Autoinflammatory syndrome with skin involvement','Category','no definition available'),('290849','Rare head and neck tumor','Category','no definition available'),('2909','Rothmund-Thomson syndrome','Disease','Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.'),('291','Congenital varicella syndrome','Disease','Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.'),('2911','Poland syndrome','Malformation syndrome','A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper arm defects.'),('2912','Poliomyelitis','Disease','Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.'),('2913','Non-syndromic polydactyly','Category','no definition available'),('2916','Postaxial polydactyly-dental and vertebral anomalies syndrome','Malformation syndrome','Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.'),('2917','Polydactyly-myopia syndrome','Malformation syndrome','Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.'),('2919','Orofaciodigital syndrome type 5','Malformation syndrome','Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).'),('292','Congenital enterovirus infection','Disease','An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations.'),('2920','Oliver syndrome','Malformation syndrome','Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.'),('29207','Reactive arthritis','Disease','Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.'),('2921','Preaxial polydactyly-colobomata-intellectual disability syndrome','Malformation syndrome','Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.'),('2924','Isolated polycystic liver disease','Malformation syndrome','Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).'),('2925','OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome','Malformation syndrome','no definition available'),('2926','Digital extensor muscle aplasia-polyneuropathy','Malformation syndrome','Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.'),('2928','Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome','Malformation syndrome','Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.'),('2929','Juvenile polyposis syndrome','Disease','A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.'),('293','Congenital herpes simplex virus infection','Disease','Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.'),('2930','Cronkhite-Canada syndrome','Disease','Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.'),('293144','Familial clubfoot due to 5q31 microdeletion','Etiological subtype','no definition available'),('293150','Familial clubfoot due to PITX1 point mutation','Etiological subtype','no definition available'),('293165','Skin fragility-woolly hair-palmoplantar keratoderma syndrome','Disease','Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.'),('293168','Infantile-onset ascending hereditary spastic paralysis','Disease','Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.'),('293173','Acute generalized exanthematous pustulosis','Disease','A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Histologically reveals characteristic spongiform, subcorneal and/or intraepidermal, pustules, as well as marked edema of the papillary dermis, a perivascularly accentuated, neutrophil-rich inflammatory infiltrate, and intrapustular or intradermal eosinophils.'),('293181','Malignant migrating focal seizures of infancy','Disease','A rare, genetic, neonatal epilepsy syndrome disease characterized by onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development, and usually early mortality.'),('293190','OBSOLETE: Pleomorphic undifferentiated sarcoma','Disease','no definition available'),('293199','Pleomorphic rhabdomyosarcoma','Clinical subtype','A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of smooth muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.'),('2932','Chronic inflammatory demyelinating polyneuropathy','Disease','A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.'),('293202','Epithelioid sarcoma','Disease','Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.'),('293208','Celiac artery compression syndrome','Disease','A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.'),('293284','Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria','Clinical subtype','Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.'),('293355','Methylmalonic acidemia without homocystinuria','Clinical group','Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.'),('293375','Grayson-Wilbrandt corneal dystrophy','Disease','Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.'),('293381','Epithelial recurrent erosion dystrophy','Disease','Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.'),('2934','Polysyndactyly-cardiac malformation syndrome','Malformation syndrome','Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).'),('293462','Pre-Descemet corneal dystrophy','Disease','Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.'),('2935','Crossed polysyndactyly','Malformation syndrome','A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.'),('293603','Congenital hereditary endothelial dystrophy type II','Disease','Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.'),('293621','X-linked endothelial corneal dystrophy','Disease','X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.'),('293633','PYCR1-related De Barsy syndrome','Etiological subtype','no definition available'),('293642','Blepharophimosis-intellectual disability syndrome','Clinical group','no definition available'),('293707','Blepharophimosis-intellectual disability syndrome, MKB type','Malformation syndrome','A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.'),('293725','Blepharophimosis-intellectual disability syndrome, Verloes type','Malformation syndrome','Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.'),('293807','Ketamine-induced biliary dilatation','Disease','Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.'),('293812','Fixed drug eruption','Disease','Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.'),('293815','Toxic dermatosis','Category','no definition available'),('293822','MITF-related melanoma and renal cell carcinoma predisposition syndrome','Disease','MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.'),('293825','Congenital dyserythropoietic anemia type IV','Disease','Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.'),('293830','Constitutional dyserythropoietic anemia','Category','no definition available'),('293838','Fatal infantile encephalopathy-pulmonary hypertension syndrome','Disease','no definition available'),('293843','3MC syndrome','Malformation syndrome','3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.'),('293848','Frontotemporal dementia, right temporal atrophy variant','Disease','Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.'),('293864','Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome','Malformation syndrome','Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.'),('293888','Familial isolated arrhythmogenic ventricular dysplasia, left dominant form','Clinical subtype','no definition available'),('293899','Familial isolated arrhythmogenic ventricular dysplasia, biventricular form','Clinical subtype','no definition available'),('293910','Familial isolated arrhythmogenic ventricular dysplasia, right dominant form','Clinical subtype','no definition available'),('293925','Lethal occipital encephalocele-skeletal dysplasia syndrome','Malformation syndrome','Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.'),('293936','EDICT syndrome','Disease','EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.'),('293939','Distal Xq28 microduplication syndrome','Malformation syndrome','Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.'),('293948','1p21.3 microdeletion syndrome','Malformation syndrome','1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).'),('293955','Childhood encephalopathy due to thiamine pyrophosphokinase deficiency','Disease','Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.'),('293958','Hypertelorism-preauricular sinus-punctual pits-deafness syndrome','Malformation syndrome','Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.'),('293964','Hypoinsulinemic hypoglycemia and body hemihypertrophy','Disease','Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.'),('293967','Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome','Malformation syndrome','Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.'),('293978','Deficiency in anterior pituitary function-variable immunodeficiency syndrome','Disease','Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.'),('293987','Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome','Disease','A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.'),('294','Fetal cytomegalovirus syndrome','Disease','A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.'),('2940','Porencephaly','Disease','A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.'),('294016','Microcephaly-capillary malformation syndrome','Malformation syndrome','Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.'),('294023','Neonatal inflammatory skin and bowel disease','Disease','Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.'),('294026','Syndactyly-nystagmus syndrome due to 2q31.1 microduplication','Malformation syndrome','A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.'),('294049','Reunion Island Larsen-like syndrome','Disease','A rare, genetic, congenital disorder of glycosylation characterized by severe, pre- and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties, and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora, is observed on imaging.'),('294057','Rare nevus','Category','no definition available'),('294060','Multiple pterygium syndrome','Clinical group','no definition available'),('2941','Porencephaly-cerebellar hypoplasia-internal malformations syndrome','Malformation syndrome','Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.'),('2942','Postpoliomyelitis syndrome','Disease','Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.'),('294415','Renal-hepatic-pancreatic dysplasia','Malformation syndrome','Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.'),('294422','Chronic intestinal failure','Clinical syndrome','Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).'),('2946','Brachydactyly-long thumb syndrome','Malformation syndrome','Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.'),('2947','Triphalangeal thumbs-brachyectrodactyly syndrome','Malformation syndrome','Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.'),('294925','Amelia','Clinical group','no definition available'),('294927','Intercalary limb defects','Clinical group','no definition available'),('294929','OBSOLETE: Terminal limb defects','Clinical group','no definition available'),('294931','OBSOLETE: Adactyly of hand','Clinical group','no definition available'),('294935','OBSOLETE: Split hand or/and split foot malformation','Clinical group','no definition available'),('294937','OBSOLETE: Brachydactyly','Clinical group','no definition available'),('294939','OBSOLETE: Preaxial polydactyly of fingers','Clinical group','no definition available'),('294942','OBSOLETE: Postaxial polydactyly of fingers','Clinical group','no definition available'),('294944','Congenital deformities of limbs','Category','no definition available'),('294947','Congenital deformities of fingers','Category','no definition available'),('294949','Joint formation defects','Category','no definition available'),('294951','Congenital joint dislocations','Category','no definition available'),('294953','Non syndromic limb overgrowth','Category','no definition available'),('294955','Syndrome with limb reduction defects','Category','no definition available'),('294957','Dysostosis with combined reduction defects of upper and lower limbs','Category','no definition available'),('294959','Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy','Category','no definition available'),('294961','OBSOLETE: Syndromes with synostoses of limbs','Clinical group','no definition available'),('294963','Popliteal pterygium syndrome','Clinical group','no definition available'),('294965','Lethal congenital contracture syndrome','Clinical group','no definition available'),('294967','Amelia of upper limb','Morphological anomaly','A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.'),('294969','Amelia of lower limb','Morphological anomaly','A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.'),('294971','Tetra-amelia','Morphological anomaly','A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.'),('294973','Humeral agenesis/hypoplasia','Morphological anomaly','Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.'),('294975','Congenital absence of upper arm and forearm with hand present','Morphological anomaly','no definition available'),('294977','Congenital absence of thigh and lower leg with foot present','Morphological anomaly','Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.'),('294979','Congenital absence of both forearm and hand','Morphological anomaly','Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.'),('294981','Congenital absence of both lower leg and foot','Morphological anomaly','Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.'),('294983','Acheiria','Morphological anomaly','A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.'),('294986','Apodia','Morphological anomaly','A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.'),('294988','Congenital hypoplasia of thumb','Morphological anomaly','Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.'),('294990','OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb','Morphological anomaly','no definition available'),('294992','OBSOLETE: Split hand','Morphological anomaly','no definition available'),('294994','OBSOLETE: Split foot','Morphological anomaly','no definition available'),('294996','OBSOLETE: Brachydactyly of fingers','Morphological anomaly','no definition available'),('294998','OBSOLETE: Brachydactyly of toes','Morphological anomaly','no definition available'),('295','Fetal parvovirus syndrome','Malformation syndrome','Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; `slapped cheek disease`) and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.'),('2950','Triphalangeal thumb-polysyndactyly syndrome','Malformation syndrome','Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.'),('295000','Constriction rings syndrome','Malformation syndrome','Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.'),('295002','Hyperphalangy','Morphological anomaly','Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.'),('295004','Central polydactyly','Morphological anomaly','no definition available'),('295006','OBSOLETE: Preaxial polydactyly of toes','Morphological anomaly','no definition available'),('295008','OBSOLETE: Postaxial polydactyly of toes','Morphological anomaly','no definition available'),('295010','OBSOLETE: Central polydactyly of toes','Morphological anomaly','no definition available'),('295012','Syndactyly type 6','Morphological anomaly','Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.'),('295014','Familial isolated clinodactyly of fingers','Morphological anomaly','Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.'),('295016','Camptodactyly of fingers','Morphological anomaly','Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.'),('295018','Congenital pseudoarthrosis of the tibia','Clinical subtype','A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.'),('295020','Congenital pseudoarthrosis of the femur','Clinical subtype','A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.'),('295022','Congenital pseudoarthrosis of the fibula','Clinical subtype','A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.'),('295024','Congenital pseudoarthrosis of the radius','Clinical subtype','A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.'),('295026','Congenital pseudoarthrosis of the ulna','Clinical subtype','A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.'),('295028','Tibio-fibular synostosis','Morphological anomaly','Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.'),('295030','True congenital shoulder dislocation','Morphological anomaly','A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.'),('295032','Isolated congenital radial head dislocation','Morphological anomaly','A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.'),('295034','Congenital knee dislocation','Morphological anomaly','A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen`s syndrome, arthrogryposis multiplex congenita).'),('295036','Congenital patella dislocation','Morphological anomaly','A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.'),('295038','OBSOLETE: Patella aplasia/hypoplasia, unilateral','Clinical subtype','no definition available'),('295041','OBSOLETE: Patella aplasia/hypoplasia, bilateral','Clinical subtype','no definition available'),('295044','Macrodactyly of fingers','Morphological anomaly','no definition available'),('295047','Macrodactyly of toes','Morphological anomaly','no definition available'),('295049','Upper limb hypertrophy','Morphological anomaly','no definition available'),('295051','Lower limb hypertrophy','Morphological anomaly','A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.'),('295053','OBSOLETE: Amelia of upper limb, unilateral','Clinical subtype','no definition available'),('295055','OBSOLETE: Amelia of upper limb, bilateral','Clinical subtype','no definition available'),('295057','OBSOLETE: Amelia of lower limb, unilateral','Clinical subtype','no definition available'),('295059','OBSOLETE: Amelia of lower limb, bilateral','Clinical subtype','no definition available'),('295061','OBSOLETE: Humeral agenesis/hypoplasia, unilateral','Clinical subtype','no definition available'),('295063','OBSOLETE: Humeral agenesis/hypoplasia, bilateral','Clinical subtype','no definition available'),('295065','OBSOLETE: Femoral agenesis/hypoplasia, unilateral','Clinical subtype','no definition available'),('295067','OBSOLETE: Femoral agenesis/hypoplasia, bilateral','Clinical subtype','no definition available'),('295069','OBSOLETE: Radial hemimelia, unilateral','Clinical subtype','no definition available'),('295071','OBSOLETE: Radial hemimelia, bilateral','Clinical subtype','no definition available'),('295073','OBSOLETE: Ulnar hemimelia, bilateral','Clinical subtype','no definition available'),('295075','OBSOLETE: Ulnar hemimelia, unilateral','Clinical subtype','no definition available'),('295077','OBSOLETE: Tibial hemimelia, unilateral','Clinical subtype','no definition available'),('295079','OBSOLETE: Tibial hemimelia, bilateral','Clinical subtype','no definition available'),('295081','OBSOLETE: Fibular hemimelia, unilateral','Clinical subtype','no definition available'),('295083','OBSOLETE: Fibular hemimelia, bilateral','Clinical subtype','no definition available'),('295085','OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral','Clinical subtype','no definition available'),('295087','OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral','Clinical subtype','no definition available'),('295089','OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral','Clinical subtype','no definition available'),('295091','OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral','Clinical subtype','no definition available'),('295093','OBSOLETE: Congenital absence of both forearm and hand, unilateral','Clinical subtype','no definition available'),('295095','OBSOLETE: Congenital absence of both forearm and hand, bilateral','Clinical subtype','no definition available'),('295097','OBSOLETE: Congenital absence of both lower leg and foot, unilateral','Clinical subtype','no definition available'),('295099','OBSOLETE: Congenital absence of both lower leg and foot, bilateral','Clinical subtype','no definition available'),('2951','Absent thumb-short stature-immunodeficiency syndrome','Malformation syndrome','An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.'),('295101','OBSOLETE: Acheiria, unilateral','Clinical subtype','no definition available'),('295103','OBSOLETE: Acheiria, bilateral','Clinical subtype','no definition available'),('295105','OBSOLETE: Apodia, unilateral','Clinical subtype','no definition available'),('295107','OBSOLETE: Apodia, bilateral','Clinical subtype','no definition available'),('295110','OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral','Clinical subtype','no definition available'),('295112','OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral','Clinical subtype','no definition available'),('295114','OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral','Clinical subtype','no definition available'),('295116','OBSOLETE: Adactyly of foot, unilateral','Clinical subtype','no definition available'),('295118','OBSOLETE: Adactyly of foot, bilateral','Clinical subtype','no definition available'),('295120','OBSOLETE: Split hand, unilateral','Clinical subtype','no definition available'),('295122','OBSOLETE: Split hand, bilateral','Clinical subtype','no definition available'),('295124','OBSOLETE: Split foot, unilateral','Clinical subtype','no definition available'),('295126','OBSOLETE: Split foot, bilateral','Clinical subtype','no definition available'),('295128','OBSOLETE: Brachydactyly of fingers, unilateral','Clinical subtype','no definition available'),('295130','OBSOLETE: Brachydactyly of fingers, bilateral','Clinical subtype','no definition available'),('295132','OBSOLETE: Brachydactyly of toes, unilateral','Clinical subtype','no definition available'),('295134','OBSOLETE: Brachydactyly of toes, bilateral','Clinical subtype','no definition available'),('295136','OBSOLETE: Symbrachydactyly of hand and foot, unilateral','Clinical subtype','no definition available'),('295138','OBSOLETE: Symbrachydactyly of hand and foot, bilateral','Clinical subtype','no definition available'),('295140','OBSOLETE: Hyperphalangy, unilateral','Clinical subtype','no definition available'),('295142','OBSOLETE: Hyperphalangy, bilateral','Clinical subtype','no definition available'),('295144','OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral','Clinical subtype','no definition available'),('295146','OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral','Clinical subtype','no definition available'),('295148','OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral','Clinical subtype','no definition available'),('295150','OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral','Clinical subtype','no definition available'),('295152','OBSOLETE: Polydactyly of an index finger, unilateral','Clinical subtype','no definition available'),('295154','OBSOLETE: Polydactyly of an index finger, bilateral','Clinical subtype','no definition available'),('295159','OBSOLETE: Polysyndactyly, unilateral','Clinical subtype','no definition available'),('295161','OBSOLETE: Polysyndactyly, bilateral','Clinical subtype','no definition available'),('295163','OBSOLETE: Postaxial polydactyly type A, unilateral','Clinical subtype','no definition available'),('295165','OBSOLETE: Postaxial polydactyly type A, bilateral','Clinical subtype','no definition available'),('295167','OBSOLETE: Postaxial polydactyly type B, unilateral','Clinical subtype','no definition available'),('295169','OBSOLETE: Postaxial polydactyly type B, bilateral','Clinical subtype','no definition available'),('295171','OBSOLETE: Central polydactyly of fingers, unilateral','Clinical subtype','no definition available'),('295173','OBSOLETE: Central polydactyly of fingers, bilateral','Clinical subtype','no definition available'),('295175','OBSOLETE: Preaxial polydactyly of toes, unilateral','Clinical subtype','no definition available'),('295177','OBSOLETE: Preaxial polydactyly of toes, bilateral','Clinical subtype','no definition available'),('295179','OBSOLETE: Postaxial polydactyly of toes, unilateral','Clinical subtype','no definition available'),('295181','OBSOLETE: Postaxial polydactyly of toes, bilateral','Clinical subtype','no definition available'),('295183','OBSOLETE: Central polydactyly of toes, unilateral','Clinical subtype','no definition available'),('295185','OBSOLETE: Central polydactyly of toes, bilateral','Clinical subtype','no definition available'),('295187','Zygodactyly type 1','Clinical subtype','no definition available'),('295189','Zygodactyly type 2','Clinical subtype','no definition available'),('295191','Zygodactyly type 3','Clinical subtype','no definition available'),('295193','Zygodactyly type 4','Clinical subtype','no definition available'),('295195','Synpolydactyly type 1','Clinical subtype','no definition available'),('295197','Synpolydactyly type 2','Clinical subtype','no definition available'),('295199','Synpolydactyly type 3','Clinical subtype','no definition available'),('2952','Adducted thumbs-arthrogryposis syndrome, Christian type','Malformation syndrome','A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (`myopathic` stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.'),('295201','Congenital vertical talus, unilateral','Clinical subtype','no definition available'),('295203','Congenital vertical talus, bilateral','Clinical subtype','no definition available'),('295205','OBSOLETE: Humero-radio-ulnar synostosis, unilateral','Clinical subtype','no definition available'),('295207','OBSOLETE: Humero-radio-ulnar synostosis, bilateral','Clinical subtype','no definition available'),('295209','OBSOLETE: Humero-radial synostosis, unilateral','Clinical subtype','no definition available'),('295211','OBSOLETE: Humero-radial synostosis, bilateral','Clinical subtype','no definition available'),('295213','Humero-ulnar synostosis, unilateral','Clinical subtype','no definition available'),('295215','Humero-ulnar synostosis, bilateral','Clinical subtype','no definition available'),('295217','Radio-ulnar synostosis, unilateral','Clinical subtype','no definition available'),('295219','Radio-ulnar synostosis, bilateral','Clinical subtype','no definition available'),('295221','OBSOLETE: Madelung deformity, unilateral','Clinical subtype','no definition available'),('295223','OBSOLETE: Madelung deformity, bilateral','Clinical subtype','no definition available'),('295225','Congenital elbow dislocation, unilateral','Clinical subtype','no definition available'),('295227','Congenital elbow dislocation, bilateral','Clinical subtype','no definition available'),('295229','Congenital genu recurvatum','Clinical subtype','A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen`s syndrome).'),('295232','Congenital genu flexum','Clinical subtype','A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita).'),('295234','OBSOLETE: Congenital patella dislocation, unilateral','Clinical subtype','no definition available'),('295237','OBSOLETE: Congenital patella dislocation, bilateral','Clinical subtype','no definition available'),('295239','Macrodactyly of fingers, unilateral','Clinical subtype','no definition available'),('295241','Macrodactyly of fingers, bilateral','Clinical subtype','no definition available'),('295243','Macrodactyly of toes, unilateral','Clinical subtype','no definition available'),('295245','Macrodactyly of toes, bilateral','Clinical subtype','no definition available'),('2953','Musculocontractural Ehlers-Danlos syndrome','Disease','A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.'),('2956','Acrodysplasia scoliosis','Malformation syndrome','A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.'),('2957','Guttmacher syndrome','Malformation syndrome','Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.'),('2958','X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome','Malformation syndrome','An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.'),('2959','Progeria-short stature-pigmented nevi syndrome','Malformation syndrome','Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.'),('296','Ollier disease','Disease','Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.'),('2962','De Barsy syndrome','Disease','De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.'),('2963','Progeroid syndrome, Petty type','Malformation syndrome','Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.'),('2964','Autosomal dominant prognathism','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.'),('2965','Prolactinoma','Disease','A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.'),('2966','Properdin deficiency','Disease','Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.'),('2967','Transcobalamin I deficiency','Disease','A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.'),('2968','Leukocyte adhesion deficiency','Disease','Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.'),('2969','Proteus-like syndrome','Disease','Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.'),('297','Tick-borne encephalitis','Disease','Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.'),('2970','Prune belly syndrome','Malformation syndrome','Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.'),('2971','Peroxisomal acyl-CoA oxidase deficiency','Disease','Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.'),('2972','Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome','Malformation syndrome','Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.'),('2973','46,XX disorder of sex development-anorectal anomalies syndrome','Malformation syndrome','46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.'),('2975','46,XX disorder of sex development-skeletal anomalies syndrome','Malformation syndrome','46,XX disorder of sex development-skeletal anomalies syndrome is characterised by primary amenorrhoea, ambiguous external genitalia, and bone abnormalities (hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads, etc.). It has been described in two sisters born to consanguineous parents.'),('2976','Pseudoleprechaunism syndrome, Patterson type','Malformation syndrome','Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.'),('2978','Chronic intestinal pseudoobstruction','Clinical syndrome','Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.'),('298','Mitochondrial neurogastrointestinal encephalomyopathy','Disease','Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.'),('2980','Acrootoocular syndrome','Malformation syndrome','A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.'),('2981','Pseudo-Zellweger syndrome','Disease','no definition available'),('2982','46,XX disorder of sex development','Category','no definition available'),('29822','Spontaneous periodic hypothermia','Disease','A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.'),('2983','Disorder of sex development-intellectual disability syndrome','Disease','Verloes-Gillerot-Fryns syndrome is a rare association of malformations.'),('2985','Pseudoprogeria syndrome','Malformation syndrome','A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.'),('298644','Disorder of thiamine metabolism and transport','Category','no definition available'),('2987','Antecubital pterygium syndrome','Malformation syndrome','A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.'),('2988','Pterygium colli-intellectual disability-digital anomalies syndrome','Malformation syndrome','A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.'),('2989','Familial pterygium of the conjunctiva','Morphological anomaly','A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.'),('2990','Autosomal recessive multiple pterygium syndrome','Malformation syndrome','no definition available'),('2994','Short stature-craniofacial anomalies-genital hypoplasia syndrome','Malformation syndrome','Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.'),('2995','Baraitser-Winter cerebrofrontofacial syndrome','Malformation syndrome','Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.'),('2997','Ptosis-vocal cord paralysis syndrome','Malformation syndrome','Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.'),('2998','Carnevale syndrome','Malformation syndrome','no definition available'),('2999','Ptosis-strabismus-ectopic pupils syndrome','Malformation syndrome','A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.'),('30','Hereditary orotic aciduria','Disease','A rare autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5`-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5`-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.'),('300','Bifunctional enzyme deficiency','Disease','no definition available'),('3000','Familial male-limited precocious puberty','Disease','Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.'),('300179','Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency','Clinical subtype','A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.'),('3002','Immune thrombocytopenia','Disease','Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.'),('300284','Connective tissue disorder due to lysyl hydroxylase-3 deficiency','Disease','Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.'),('300293','Transient infantile hypertriglyceridemia and hepatosteatosis','Disease','Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.'),('300298','Severe congenital hypochromic anemia with ringed sideroblasts','Disease','STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.'),('3003','Pyknoachondrogenesis','Malformation syndrome','A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.'),('300305','11p15.4 microduplication syndrome','Malformation syndrome','A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.'),('300313','Congenital cataract-hearing loss-severe developmental delay syndrome','Disease','Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.'),('300319','Charcot-Marie-Tooth disease type 2P','Disease','Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.'),('300324','Persistent polyclonal B-cell lymphocytosis','Disease','Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.'),('300333','Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome','Disease','Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.'),('300337','OBSOLETE: Congenital blindness due to retinal non-attachment','Disease','no definition available'),('300345','Autosomal systemic lupus erythematosus','Disease','Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.'),('300359','PLCG2-associated antibody deficiency and immune dysregulation','Disease','PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.'),('300373','X-linked acrogigantism','Disease','A rare genetic endocrine disease characterized by early-onset (from <12 months to 3 years), rapid and excessive acceleration of linear growth and body size due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.'),('300382','Progeroid and marfanoid aspect-lipodystrophy syndrome','Disease','Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.'),('300385','Pituitary carcinoma','Disease','A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.'),('3004','Mirror polydactyly-vertebral segmentation-limbs defects syndrome','Malformation syndrome','A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.'),('300493','Sagliker syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('300496','Multiple congenital anomalies-hypotonia-seizures syndrome type 2','Malformation syndrome','Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.'),('3005','Pyle disease','Disease','A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask`` appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.'),('300501','Painful orbital and systemic neurofibromas-marfanoid habitus syndrome','Disease','Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.'),('300504','Onychocytic matricoma','Disease','Onychocytic matricoma is a rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.'),('300512','Onychomatricoma','Disease','Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.'),('300515','Rare nail tumor','Category','no definition available'),('300525','Pseudohypoaldosteronism type 2D','Etiological subtype','no definition available'),('300530','Pseudohypoaldosteronism type 2E','Etiological subtype','no definition available'),('300536','DDOST-CDG','Disease','DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).'),('300547','Autosomal recessive infantile hypercalcemia','Disease','A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.'),('300552','Follicular cholangitis and pancreatitis','Disease','Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.'),('300557','Carcinoma of the ampulla of Vater','Disease','Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.'),('300564','Combined pulmonary fibrosis-emphysema syndrome','Disease','no definition available'),('300570','Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation','Disease','A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.'),('300573','Polymicrogyria due to TUBB2B mutation','Malformation syndrome','A rare, genetic, central nervous system malformation characterized by generalized or focal polmicrogryia-like cortical dysplasia and simplified gyral pattern, or alternatively by microlissencephaly and agenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).'),('300576','Oligodontia-cancer predisposition syndrome','Disease','Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.'),('300579','Staphylococcal toxemia','Category','no definition available'),('3006','Pyridoxine-dependent epilepsy','Disease','A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).'),('300605','Juvenile amyotrophic lateral sclerosis','Disease','Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.'),('300751','Familial dilated cardiomyopathy with conduction defect due to LMNA mutation','Disease','Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.'),('300755','Laminopathy with striated muscle involvement','Category','no definition available'),('300758','Laminopathy with peripheral neuropathy','Category','no definition available'),('300763','Laminopathy with lipodystrophy','Category','no definition available'),('300766','Laminopathy with premature aging','Category','no definition available'),('3008','Pyruvate carboxylase deficiency','Disease','Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.'),('300842','Indolent B-cell non-Hodgkin lymphoma','Category','no definition available'),('300846','Aggressive B-cell non-Hodgkin lymphoma','Category','no definition available'),('300849','Diffuse large B-cell lymphoma of the central nervous system','Disease','no definition available'),('300857','T-cell/histiocyte rich large B cell lymphoma','Disease','T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.'),('300865','Primary cutaneous anaplastic large cell lymphoma','Disease','Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.'),('300869','Splenic diffuse red pulp small B-cell lymphoma','Disease','Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.'),('300878','Hairy cell leukemia variant','Disease','A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.'),('300888','Diffuse large B-cell lymphoma with chronic inflammation','Disease','Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.'),('300895','ALK-positive anaplastic large cell lymphoma','Histopathological subtype','A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).'),('300903','ALK-negative anaplastic large cell lymphoma','Histopathological subtype','A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).'),('300912','Marginal zone lymphoma','Clinical group','no definition available'),('301','Ependymal tumor','Clinical group','Ependymal tumor is a tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (benign or low grade tumors) or anaplastic ependymoma (malignant or grade III tumors).'),('3010','Qazi-Markouizos syndrome','Disease','A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.'),('3011','Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome','Disease','A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.'),('3013','Radiculomegaly of canine teeth- congenital cataract','Malformation syndrome','no definition available'),('3015','Radio-renal syndrome','Malformation syndrome','Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.'),('3016','Absent radius-anogenital anomalies syndrome','Malformation syndrome','A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.'),('3018','Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome','Malformation syndrome','A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.'),('3019','Ramon syndrome','Malformation syndrome','A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.'),('302','Epidermodysplasia verruciformis','Disease','Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.'),('3020','Ramsay Hunt syndrome','Disease','A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus.'),('3021','RAPADILINO syndrome','Malformation syndrome','A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.'),('3022','Rapp-Hodgkin syndrome','Disease','no definition available'),('3023','External auditory canal atresia-vertical talus-hypertelorism syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.'),('3026','Radial ray hypoplasia-choanal atresia syndrome','Malformation syndrome','An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.'),('3027','Caudal regression sequence','Malformation syndrome','Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.'),('3029','NON RARE IN EUROPE: Horseshoe kidney','Morphological anomaly','no definition available'),('303','Dystrophic epidermolysis bullosa','Clinical group','Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms).'),('3032','NPHP3-related Meckel-like syndrome','Malformation syndrome','NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.'),('3033','Renal tubular dysgenesis','Malformation syndrome','Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.'),('3034','Delayed membranous cranial ossification','Malformation syndrome','Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.'),('3035','Growth delay-hydrocephaly-lung hypoplasia syndrome','Malformation syndrome','Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.'),('3038','Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome','Malformation syndrome','This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.'),('30391','Isolated biliary atresia','Morphological anomaly','Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.'),('304','Epidermolysis bullosa simplex','Clinical group','Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.'),('304055','Pituitary tumor','Category','no definition available'),('3041','Intellectual disability-balding-patella luxation-acromicria syndrome','Malformation syndrome','Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.'),('3042','Intellectual disability-cataracts-calcified pinnae-myopathy syndrome','Malformation syndrome','Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.'),('3043','OBSOLETE: Intellectual disability-unusual facies syndrome','Malformation syndrome','no definition available'),('3044','Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.'),('3046','OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type','Malformation syndrome','no definition available'),('3047','Blepharophimosis-intellectual disability syndrome, SBBYS type','Malformation syndrome','Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.'),('305','Junctional epidermolysis bullosa','Clinical group','Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.'),('3050','OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome','Disease','no definition available'),('3051','Intellectual disability-sparse hair-brachydactyly syndrome','Malformation syndrome','Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.'),('3052','X-linked intellectual disability-seizures-psoriasis syndrome','Disease','A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.'),('3055','X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome','Malformation syndrome','X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.'),('3056','X-linked intellectual disability, Brooks type','Disease','X-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.'),('3057','Monoamine oxidase A deficiency','Disease','Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.'),('3059','X-linked intellectual disability, Gu type','Disease','no definition available'),('306','Benign familial infantile epilepsy','Disease','Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.'),('3061','OBSOLETE: X-linked intellectual disability, Raynaud type','Disease','no definition available'),('3062','OBSOLETE: X-linked intellectual disability, Schutz type','Disease','no definition available'),('3063','X-linked intellectual disability, Snyder type','Disease','X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.'),('3064','OBSOLETE: X-linked intellectual disability, Wittner type','Disease','no definition available'),('306431','Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies','Disease','A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.'),('306436','Congenital sucrase-isomaltase deficiency with starch intolerance','Clinical subtype','no definition available'),('306446','Congenital sucrase-isomaltase deficiency with minimal starch tolerance','Clinical subtype','no definition available'),('306462','Congenital sucrase-isomaltase deficiency without starch intolerance','Clinical subtype','no definition available'),('306474','Congenital sucrase-isomaltase deficiency with starch and lactose intolerance','Clinical subtype','no definition available'),('306486','Congenital sucrase-isomaltase deficiency without sucrose intolerance','Clinical subtype','no definition available'),('306498','PTEN hamartoma tumor syndrome','Clinical group','PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.'),('3065','X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome','Disease','no definition available'),('306504','Junctional epidermolysis bullosa with respiratory and renal involvement','Disease','Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.'),('306507','LAMB2-related infantile-onset nephrotic syndrome','Disease','no definition available'),('306511','Autosomal recessive spastic paraplegia type 48','Disease','Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.'),('306516','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis','Clinical group','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).'),('306519','Genetic primary hypomagnesemia with hypocalciuria','Clinical group','no definition available'),('306522','Genetic primary hypomagnesemia with normocalciuria','Clinical group','Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms).'),('306527','Isolated hereditary congenital facial paralysis','Morphological anomaly','Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.'),('306530','Congenital hereditary facial paralysis-variable hearing loss syndrome','Morphological anomaly','Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.'),('306539','OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary','Disease','no definition available'),('306542','Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome','Malformation syndrome','Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.'),('306547','Porencephaly-microcephaly-bilateral congenital cataract syndrome','Malformation syndrome','Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.'),('306550','FADD-related immunodeficiency','Disease','FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.'),('306553','Myospherulosis','Disease','no definition available'),('306558','Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome','Disease','Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.'),('306561','OBSOLETE: Autosomal dominant childhood-onset cortical cataract','Clinical subtype','no definition available'),('306566','OBSOLETE: Susceptibility to myopathies due to statin treatment','Particular clinical situation in a disease or syndrome','no definition available'),('306574','OBSOLETE: Methotrexate dose selection','Particular clinical situation in a disease or syndrome','no definition available'),('306577','Sodium channelopathy-related small fiber neuropathy','Disease','Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.'),('306588','Autosomal dominant Opitz G/BBB syndrome','Etiological subtype','no definition available'),('306597','X-linked Opitz G/BBB syndrome','Etiological subtype','no definition available'),('306617','X-linked complicated spastic paraplegia type 1','Clinical subtype','no definition available'),('306633','Rare tumor of gallbladder and extrahepatic biliary tract','Category','no definition available'),('306636','Rare tumor of liver and intrahepatic biliary tract','Category','no definition available'),('306640','Rare intoxication due to medical products','Category','no definition available'),('306644','Complication after organ transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('306648','Non-infectious anterior uveitis','Category','no definition available'),('306658','Familial normophosphatemic tumoral calcinosis','Clinical subtype','no definition available'),('306661','Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome','Clinical subtype','Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.'),('306666','Rare parkinsonian syndrome due to neurodegenerative disease','Category','no definition available'),('306669','Hemiparkinsonism-hemiatrophy syndrome','Disease','Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.'),('306674','Kufor-Rakeb syndrome','Disease','Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.'),('306679','Rare parkinsonian syndrome due to intoxication','Category','no definition available'),('306682','Manganese poisoning','Disease','A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.'),('306686','Delayed encephalopathy due to carbon monoxide poisoning','Disease','A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.'),('306692','Cyanide-induced parkinsonism-dystonia','Disease','Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.'),('306695','Miscellaneous movement disorder due to neurodegenerative disease','Category','no definition available'),('3067','OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome','Malformation syndrome','no definition available'),('306708','Frontotemporal neurodegeneration with movement disorder','Category','no definition available'),('306712','Rare tremor disorder','Category','no definition available'),('306715','Rare choreic movement disorder','Category','no definition available'),('306719','Neurodegenerative disease with chorea','Category','no definition available'),('306727','Postinfectious autoimmune disease with chorea','Category','no definition available'),('306731','Sydenham chorea','Particular clinical situation in a disease or syndrome','no definition available'),('306734','Primary dystonia, DYT21 type','Disease','Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.'),('306741','Hemidystonia-hemiatrophy syndrome','Disease','Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.'),('306747','Rare myoclonus','Category','no definition available'),('306750','Primary myoclonus','Category','no definition available'),('306753','Rare disease with myoclonus as a major feature','Category','no definition available'),('306756','Epilepsy and/or ataxia with myoclonus as a major feature','Category','no definition available'),('306759','Non progressive epilepsy and/or ataxia with myoclonus as a major feature','Category','no definition available'),('306762','OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature','Category','no definition available'),('306765','Motor stereotypies','Category','no definition available'),('306768','Rare paroxysmal movement disorder','Category','no definition available'),('306773','Hyperekplexia','Clinical group','no definition available'),('306776','Sporadic hyperekplexia','Disease','A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.'),('3068','Intellectual disability-myopathy-short stature-endocrine defect syndrome','Disease','Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.'),('307','Juvenile myoclonic epilepsy','Disease','Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).'),('307052','Rare genetic parkinsonian disorder','Category','no definition available'),('307055','Rare parkinsonian syndrome due to genetic neurodegenerative disease','Category','no definition available'),('307058','Miscellaneous movement disorder due to genetic neurodegenerative disease','Category','no definition available'),('307061','Rare genetic tremor disorder','Category','no definition available'),('307064','Rare genetic myoclonus','Category','no definition available'),('307067','Rare genetic disease with myoclonus as a major feature','Category','no definition available'),('3071','Costello syndrome','Malformation syndrome','A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.'),('307141','Diffuse palmoplantar keratoderma','Category','no definition available'),('307148','Isolated diffuse palmoplantar keratoderma','Clinical group','no definition available'),('3074','Intellectual disability-short stature-hypertelorism syndrome','Malformation syndrome','Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad `square` forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.'),('3077','X-linked intellectual disability-psychosis-macroorchidism syndrome','Malformation syndrome','An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.'),('307711','Disease with diffuse palmoplantar keratoderma as a major feature','Category','no definition available'),('307766','Curly hair-acral keratoderma-caries syndrome','Disease','Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.'),('307773','Autosomal dominant diffuse mutilating palmoplantar keratoderma','Clinical group','no definition available'),('3078','Severe X-linked intellectual disability, Gustavson type','Malformation syndrome','A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.'),('307804','Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature','Category','no definition available'),('307837','Focal palmoplantar keratoderma','Category','no definition available'),('307846','Isolated focal palmoplantar keratoderma','Clinical group','no definition available'),('307871','Disease with focal palmoplantar keratoderma as a major feature','Category','no definition available'),('3079','Intellectual disability, Buenos-Aires type','Malformation syndrome','Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.'),('307936','Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome','Disease','Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.'),('307967','Punctate palmoplantar keratoderma','Category','no definition available'),('307995','Marginal papular palmoplantar keratoderma','Clinical group','no definition available'),('308','Unverricht-Lundborg disease','Malformation syndrome','Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.'),('3080','Intellectual disability, Wolff type','Malformation syndrome','Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.'),('308013','Focal acral hyperkeratosis','Disease','no definition available'),('308023','Disease with punctate palmoplantar keratoderma as a major feature','Category','no definition available'),('308031','Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature','Category','no definition available'),('308041','Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature','Category','no definition available'),('308166','Erythrokeratoderma variabilis progressiva','Clinical group','Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.'),('3082','Intellectual disability-polydactyly-uncombable hair syndrome','Malformation syndrome','Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.'),('308380','Methylcobalamin deficiency type cblDv1','Clinical subtype','no definition available'),('308386','Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A','Etiological subtype','no definition available'),('308393','Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B','Etiological subtype','no definition available'),('3084','Mirhosseini-Holmes-Walton syndrome','Malformation syndrome','no definition available'),('308400','Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C','Etiological subtype','no definition available'),('308407','Disorder of beta and omega amino acid metabolism','Category','no definition available'),('308410','Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency','Disease','A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.'),('308425','Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency','Disease','Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.'),('308442','Vitamin B12-responsive methylmalonic acidemia, type cblDv2','Clinical subtype','no definition available'),('308448','Aminoacylase deficiency','Clinical group','no definition available'),('308451','Disorder of neutral amino acid transport','Category','no definition available'),('308459','Disorder of glycolysis','Category','no definition available'),('308463','Disorder of fructose metabolism','Category','no definition available'),('308467','Disorder of galactose metabolism','Category','no definition available'),('308473','Erythrocyte galactose epimerase deficiency','Clinical subtype','no definition available'),('308487','Generalized galactose epimerase deficiency','Clinical subtype','no definition available'),('3085','Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome','Malformation syndrome','Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.'),('308520','Glycogen storage disease due to glycogen synthase deficiency','Clinical group','no definition available'),('308552','Glycogen storage disease due to acid maltase deficiency, infantile onset','Clinical subtype','Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.'),('308573','OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset','Clinical subtype','no definition available'),('3086','Autosomal dominant vitreoretinochoroidopathy','Disease','A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.'),('308604','OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset','Clinical subtype','no definition available'),('308621','Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form','Clinical subtype','no definition available'),('308638','Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form','Clinical subtype','no definition available'),('308655','Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form','Clinical subtype','no definition available'),('308670','Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form','Clinical subtype','no definition available'),('308684','Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form','Clinical subtype','no definition available'),('308698','Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form','Clinical subtype','no definition available'),('3087','Retinohepatoendocrinologic syndrome','Malformation syndrome','no definition available'),('308712','Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form','Clinical subtype','no definition available'),('3088','Revesz syndrome','Malformation syndrome','Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.'),('308993','Glycerol kinase deficiency','Clinical group','no definition available'),('308998','Disorder of glyoxylate metabolism','Category','no definition available'),('309','Familial partial epilepsy','Clinical group','no definition available'),('3090','Congenital pulmonary venous return anomaly','Clinical group','A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.'),('309001','Disorder of carbohydrate absorption and transport','Category','no definition available'),('309005','Disorder of lipid metabolism','Category','no definition available'),('309015','Familial lipoprotein lipase deficiency','Etiological subtype','no definition available'),('309020','Familial apolipoprotein C-II deficiency','Etiological subtype','no definition available'),('309025','Mevalonate kinase deficiency','Clinical group','no definition available'),('309028','Disorder of lipid absorption and transport','Category','no definition available'),('309031','Pancreatic triacylglycerol lipase deficiency','Disease','no definition available'),('3091','Congenital systemic veins anomaly','Category','no definition available'),('309108','Pancreatic colipase deficiency','Disease','no definition available'),('309111','Combined pancreatic lipase-colipase deficiency','Disease','Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.'),('309115','Disorder of fatty acid oxidation and ketogenesis','Category','no definition available'),('309120','Acyl-CoA dehydrogenase deficiency','Clinical group','no definition available'),('309127','3-hydroxyacyl-CoA dehydrogenase deficiency','Clinical group','no definition available'),('309130','Disorder of carnitine cycle and carnitine transport','Category','no definition available'),('309133','Metabolic disease due to other fatty acid oxidation disorder','Category','no definition available'),('309136','Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes','Category','no definition available'),('309139','OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA','Clinical group','no definition available'),('309144','Gangliosidosis','Category','no definition available'),('309147','Hyper-beta-alaninemia','Disease','A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopahty. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.'),('309152','GM2 gangliosidosis','Clinical group','no definition available'),('309155','Sandhoff disease, infantile form','Clinical subtype','no definition available'),('309162','Sandhoff disease, juvenile form','Clinical subtype','no definition available'),('309169','Sandhoff disease, adult form','Clinical subtype','no definition available'),('309178','Tay-Sachs disease, B variant, infantile form','Clinical subtype','no definition available'),('309185','Tay-Sachs disease, B variant, juvenile form','Clinical subtype','no definition available'),('309192','Tay-Sachs disease, B variant, adult form','Clinical subtype','no definition available'),('3092','Fixed subaortic stenosis','Morphological anomaly','Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.'),('309239','Tay-Sachs disease, B1 variant','Clinical subtype','no definition available'),('30924','Primary hypomagnesemia with secondary hypocalcemia','Disease','Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.'),('309246','GM2 gangliosidosis, AB variant','Disease','GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.'),('30925','Hereditary central diabetes insipidus','Clinical subtype','Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.'),('309252','Atypical Gaucher disease due to saposin C deficiency','Clinical subtype','no definition available'),('309256','Metachromatic leukodystrophy, late infantile form','Clinical subtype','A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.'),('309263','Metachromatic leukodystrophy, juvenile form','Clinical subtype','A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.'),('309271','Metachromatic leukodystrophy, adult form','Clinical subtype','A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.'),('309279','Glycoproteinosis','Category','no definition available'),('309282','Alpha-mannosidosis, infantile form','Clinical subtype','no definition available'),('309288','Alpha-mannosidosis, adult form','Clinical subtype','no definition available'),('309294','Sialidosis','Clinical group','Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.'),('309297','Mucopolysaccharidosis type 4A','Clinical subtype','no definition available'),('3093','Congenital aortic valve stenosis','Morphological anomaly','A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.'),('309310','Mucopolysaccharidosis type 4B','Clinical subtype','no definition available'),('309319','Disorder of sialic acid metabolism','Category','no definition available'),('309324','Free sialic acid storage disease, infantile form','Clinical subtype','no definition available'),('309331','Intermediate severe Salla disease','Clinical subtype','no definition available'),('309334','Salla disease','Clinical subtype','no definition available'),('309337','Lysosomal glycogen storage disease','Category','no definition available'),('309340','Disorder of lysosomal-related organelles','Category','no definition available'),('309347','Disorder of protein N-glycosylation','Category','no definition available'),('309447','Disorder of protein O-glycosylation','Category','no definition available'),('309450','Disorder of O-xylosylglycan synthesis','Category','no definition available'),('309458','Disorder of O-N-acetylgalactosaminylglycan synthesis','Category','no definition available'),('309463','Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis','Category','no definition available'),('309469','Disorder of O-mannosylglycan synthesis','Category','no definition available'),('3095','Atypical Rett syndrome','Disease','A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.'),('309505','Disorder of fucoglycosan synthesis','Category','no definition available'),('309515','Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation','Category','no definition available'),('309526','Disorder of multiple glycosylation','Category','no definition available'),('309568','Defect in conserved oligomeric Golgi complex','Category','no definition available'),('3096','Reye syndrome','Disease','A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.'),('3097','Meacham syndrome','Malformation syndrome','Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.'),('309778','Defect in V-ATPase','Category','no definition available'),('309789','Rhizomelic chondrodysplasia punctata type 1','Etiological subtype','no definition available'),('309796','Rhizomelic chondrodysplasia punctata type 2','Etiological subtype','no definition available'),('3098','Rhizomelic syndrome, Urbach type','Malformation syndrome','Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.'),('309803','Rhizomelic chondrodysplasia punctata type 3','Etiological subtype','no definition available'),('309810','Disorder of peroxisomal alpha-, beta- and omega-oxidation','Category','no definition available'),('309813','Disorder of porphyrin and heme metabolism','Category','no definition available'),('309816','Disorder of bilirubin metabolism and excretion','Category','no definition available'),('309819','Disorder of pterin metabolism','Category','no definition available'),('309824','Disorder of metabolite absorption and transport','Category','no definition available'),('309827','Disorder of vitamin and non-protein cofactor absorption and transport','Category','no definition available'),('309830','Disorder of catecholamine synthesis','Category','no definition available'),('309833','Disorder of other vitamins and cofactors metabolism and transport','Category','no definition available'),('309836','Disorder of mineral absorption and transport','Category','no definition available'),('309839','Disorder of copper metabolism','Category','no definition available'),('309842','Disorder of iron metabolism and transport','Category','no definition available'),('309845','Disorder of zinc metabolism and transport','Category','no definition available'),('309848','Disorder of magnesium transport','Category','no definition available'),('309851','Disorder of manganese transport','Category','no definition available'),('309854','Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome','Disease','no definition available'),('3099','Rheumatic fever','Disease','Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.'),('31','Oxoglutaric aciduria','Disease','A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.'),('310','Reflex epilepsy','Clinical group','Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).'),('310050','Acquired immunodeficiency','Category','no definition available'),('3101','Richieri Costa-da Silva syndrome','Malformation syndrome','Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.'),('3102','Richieri Costa-Pereira syndrome','Malformation syndrome','Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.'),('3103','Roberts syndrome','Malformation syndrome','Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.'),('3104','Robin sequence-oligodactyly syndrome','Malformation syndrome','Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.'),('31043','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement','Disease','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.'),('3105','Robinow-like syndrome','Malformation syndrome','no definition available'),('3106','Robinow-Sorauf syndrome','Malformation syndrome','no definition available'),('3107','Autosomal dominant Robinow syndrome','Clinical subtype','The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.'),('3109','Mayer-Rokitansky-Küster-Hauser syndrome','Malformation syndrome','Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).'),('3110','Rombo syndrome','Disease','Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.'),('3111','Rotor syndrome','Disease','A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.'),('31112','Dermatofibrosarcoma protuberans','Disease','Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).'),('3112','Patella aplasia-coxa vara-tarsal synostosis syndrome','Disease','no definition available'),('31142','Oral erosive lichen','Disease','no definition available'),('3115','Roussy-Lévy syndrome','Disease','A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.'),('31150','Tangier disease','Disease','Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.'),('31153','Hypoalphalipoproteinemia','Clinical group','no definition available'),('31154','Hypobetalipoproteinemia','Clinical group','Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.'),('3118','Rudiger syndrome','Malformation syndrome','no definition available'),('312','Autosomal dominant epidermolytic ichthyosis','Disease','Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.'),('31202','Melioidosis','Disease','A rare infectious disease caused by the Gram-negative bacillus Burkholderia (pseudomonas) pseudomallei, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.'),('31204','Nocardiosis','Disease','Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.'),('31205','Rat-bite fever','Disease','Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.'),('3121','Ruvalcaba syndrome','Malformation syndrome','Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.'),('3122','OBSOLETE: Sinus node disease-myopia syndrome','Malformation syndrome','no definition available'),('3123','Brittle hair syndrome, Sabinas type','Malformation syndrome','no definition available'),('3124','Saccharopinuria','Disease','Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.'),('3128','OBSOLETE: Sakati-Nyhan syndrome','Malformation syndrome','no definition available'),('3129','Sarcosinemia','Disease','A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.'),('313','Lamellar ichthyosis','Disease','Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.'),('3130','Satoyoshi syndrome','Disease','Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.'),('3132','Say-Barber-Miller syndrome','Malformation syndrome','Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.'),('3133','Say-Field-Coldwell syndrome','Malformation syndrome','Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.'),('3134','SCARF syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.'),('3135','Familial Scheuermann disease','Malformation syndrome','Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl`s nodes, disk-space narrowing, and vertebral wedging and is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.'),('3137','Alpha-N-acetylgalactosaminidase deficiency','Disease','A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.'),('313772','Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome','Disease','Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.'),('313781','20p13 microdeletion syndrome','Malformation syndrome','20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.'),('313795','Jawad syndrome','Malformation syndrome','Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.'),('3138','Ulnar-mammary syndrome','Malformation syndrome','Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.'),('313800','Optic nerve edema-splenomegaly syndrome','Disease','Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.'),('313808','Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia','Disease','Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.'),('313838','Coats plus syndrome','Disease','Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.'),('313846','Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome','Disease','Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.'),('313850','Infantile cerebellar-retinal degeneration','Disease','Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.'),('313855','FGFR2-related bent bone dysplasia','Disease','FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.'),('313884','12p12.1 microdeletion syndrome','Malformation syndrome','12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.'),('313892','Developmental and speech delay due to SOX5 deficiency','Disease','Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).'),('313906','Congenital pancreatic cyst','Morphological anomaly','no definition available'),('313920','Epstein-Barr virus-associated gastric carcinoma','Disease','Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.'),('313936','PENS syndrome','Disease','PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ``gem-like`` appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.'),('313947','2q23.1 microduplication syndrome','Malformation syndrome','2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.'),('314','Erythroderma desquamativum','Disease','no definition available'),('3140','NON RARE IN EUROPE: Schizophrenia','Disease','no definition available'),('314002','Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome','Malformation syndrome','Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.'),('314017','Idiopathic linear interstitial keratitis','Disease','Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.'),('314022','Gastric adenocarcinoma and proximal polyposis of the stomach','Disease','Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.'),('314029','High bone mass osteogenesis imperfecta','Disease','High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with mutiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.'),('314034','7p22.1 microduplication syndrome','Malformation syndrome','7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.'),('314041','Marfanoid habitus-inguinal hernia-advanced bone age syndrome','Malformation syndrome','Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).'),('314051','Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome','Disease','Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.'),('3143','Autoimmune polyendocrinopathy type 2','Disease','A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.'),('314373','Chronic infantile diarrhea due to guanylate cyclase 2C overactivity','Disease','A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn`s disease, are frequently associated.'),('314376','Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency','Disease','Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.'),('314381','Hereditary sensory and autonomic neuropathy type 6','Disease','no definition available'),('314389','Xq12-q13.3 duplication syndrome','Malformation syndrome','Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.'),('314394','Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome','Disease','Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.'),('314399','Autosomal dominant aplasia and myelodysplasia','Disease','A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.'),('3144','Schneckenbecken dysplasia','Malformation syndrome','Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.'),('314404','Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome','Disease','A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.'),('314419','Ameloblastoma','Disease','A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.'),('314422','Ameloblastic carcinoma','Disease','A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.'),('314425','Rare odontogenic tumor','Category','no definition available'),('314432','Spigelian hernia-cryptorchidism syndrome','Malformation syndrome','Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.'),('314451','Meigs syndrome','Clinical syndrome','Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.'),('314459','Pseudo-Meigs syndrome','Clinical syndrome','Pseudo-Meigs syndrome is a rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.'),('314466','Atypical Meigs syndrome','Clinical syndrome','A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.'),('314473','Ovarian fibroma','Disease','A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.'),('314478','Ovarian fibrothecoma','Disease','Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).'),('314485','Young adult-onset distal hereditary motor neuropathy','Disease','Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.'),('3145','Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome','Disease','This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.'),('314555','Craniofacial dysplasia-osteopenia syndrome','Malformation syndrome','Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.'),('314566','Primary progressive apraxia of speech','Disease','Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.'),('314572','Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome','Disease','A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.'),('314575','Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome','Malformation syndrome','Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.'),('314585','15q overgrowth syndrome','Malformation syndrome','A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.'),('314588','Distal tetrasomy 15q','Etiological subtype','no definition available'),('314597','Chudley-McCullough syndrome','Malformation syndrome','Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.'),('314603','Autosomal recessive spastic ataxia with leukoencephalopathy','Disease','A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.'),('314613','Growing teratoma syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('314621','Duplication of the pituitary gland','Morphological anomaly','Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).'),('314629','CLN11 disease','Etiological subtype','no definition available'),('314632','ATP13A2-related juvenile neuronal ceroid lipofuscinosis','Disease','A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.'),('314637','Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency','Disease','A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.'),('314647','Non-progressive cerebellar ataxia with intellectual disability','Disease','Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).'),('314652','Variant ABeta2M amyloidosis','Disease','A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.'),('314655','Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion','Etiological subtype','no definition available'),('314662','Segmental progressive overgrowth syndrome with fibroadipose hyperplasia','Disease','A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.'),('314667','TMEM165-CDG','Disease','TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).'),('314679','Cerebrofacioarticular syndrome','Malformation syndrome','Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.'),('314684','Primary bone lymphoma','Disease','Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.'),('314689','Combined immunodeficiency due to STK4 deficiency','Disease','A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).'),('314697','Acquired porencephaly','Etiological subtype','no definition available'),('314701','Primary systemic amyloidosis','Clinical subtype','Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement.'),('314709','Primary localized amyloidosis','Clinical subtype','Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.'),('314718','Lethal arteriopathy syndrome due to fibulin-4 deficiency','Disease','Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.'),('314721','Atypical dentin dysplasia due to SMOC2 deficiency','Clinical subtype','A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.'),('314749','Rare disease with Cushing syndrome as a major feature','Category','no definition available'),('314753','Functioning pituitary adenoma','Clinical group','no definition available'),('314759','Mixed functioning pituitary adenoma','Category','no definition available'),('314769','Somatomammotropinoma','Disease','Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.'),('314777','Familial isolated pituitary adenoma','Disease','A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.'),('314786','Silent pituitary adenoma','Histopathological subtype','no definition available'),('314790','Null pituitary adenoma','Histopathological subtype','no definition available'),('314795','SHOX-related short stature','Disease','SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.'),('3148','Malignant peripheral nerve sheath tumor','Disease','Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.'),('314802','Short stature due to partial GHR deficiency','Disease','Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.'),('314811','Short stature due to GHSR deficiency','Disease','Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.'),('314822','Primary renal tubular acidosis','Clinical group','no definition available'),('314889','Autosomal dominant proximal renal tubular acidosis','Clinical subtype','A rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.'),('314911','Severe Canavan disease','Clinical subtype','Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.'),('314918','Mild Canavan disease','Clinical subtype','Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.'),('314928','NON RARE IN EUROPE: Normal pressure hydrocephalus','Disease','no definition available'),('314946','OBSOLETE: Mycobacterium xenopi infection','Disease','no definition available'),('314950','Primary hypereosinophilic syndrome','Disease','no definition available'),('314962','Secondary hypereosinophilic syndrome','Disease','no definition available'),('314970','Lymphocytic hypereosinophilic syndrome','Clinical subtype','no definition available'),('314978','X-linked non progressive cerebellar ataxia','Disease','X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.'),('314993','Cataract-congenital heart disease-neural tube defect syndrome','Malformation syndrome','Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.'),('315','Erythrokeratoderma ``en cocardes``','Disease','A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or `en cocardes`) plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.'),('3151','Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome','Disease','Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.'),('3152','Sclerosteosis','Malformation syndrome','Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.'),('3153','NON RARE IN EUROPE: Adolescent idiopathic scoliosis','Disease','no definition available'),('315306','Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form','Clinical subtype','The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.'),('315311','Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form','Clinical subtype','The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.'),('315350','Autoimmune disease with skin involvement','Category','no definition available'),('3156','Senior-Loken syndrome','Disease','A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.'),('3157','Septo-optic dysplasia spectrum','Malformation syndrome','Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.'),('316','Progressive symmetric erythrokeratodermia','Disease','no definition available'),('3160','OBSOLETE: Vascular disruption sequence','Malformation syndrome','no definition available'),('3161','Congenital pulmonary sequestration','Malformation syndrome','Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.'),('3162','Sézary syndrome','Disease','Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).'),('316226','Spastic ataxia','Clinical group','no definition available'),('316235','Autosomal dominant spastic ataxia','Category','no definition available'),('316240','Autosomal recessive spastic ataxia','Category','no definition available'),('316244','Partial deletion of the short arm of chromosome 12','Category','no definition available'),('3163','SHORT syndrome','Malformation syndrome','A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.'),('3164','Omphalocele syndrome, Shprintzen-Goldberg type','Malformation syndrome','Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.'),('3165','Eosinophilic fasciitis','Disease','Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.'),('3166','Sialuria','Disease','Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.'),('3167','Siegler-Brewer-Carey syndrome','Malformation syndrome','A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.'),('3168','Sillence syndrome','Malformation syndrome','Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.'),('3169','Sirenomelia','Malformation syndrome','Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.'),('317','Erythrokeratodermia variabilis','Disease','no definition available'),('31709','Infantile convulsions and choreoathetosis','Disease','Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.'),('3172','Eyebrow duplication-syndactyly syndrome','Malformation syndrome','Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.'),('3173','Infantile spasms-broad thumbs syndrome','Disease','Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.'),('31740','Hypersensitivity pneumonitis','Clinical group','Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.'),('317416','T-B+ severe combined immunodeficiency','Clinical group','T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.'),('317419','T-B- severe combined immunodeficiency','Clinical group','T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.'),('317425','Severe combined immunodeficiency due to DNA-PKcs deficiency','Disease','Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.'),('317428','Combined immunodeficiency due to ORAI1 deficiency','Clinical subtype','Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.'),('317430','Combined immunodeficiency due to STIM1 deficiency','Clinical subtype','Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.'),('317473','Pancytopenia due to IKZF1 mutations','Disease','A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.'),('317476','X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia','Disease','X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.'),('3175','X-linked spasticity-intellectual disability-epilepsy syndrome','Disease','This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).'),('3176','Spina bifida-hypospadias syndrome','Malformation syndrome','Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.'),('3177','Spinocerebellar degeneration-corneal dystrophy syndrome','Malformation syndrome','A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.'),('318','Acute erythroid leukemia','Disease','no definition available'),('3180','Spondylocamptodactyly syndrome','Malformation syndrome','Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.'),('3181','Sprengel deformity','Morphological anomaly','A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.'),('31824','Colchicine poisoning','Particular clinical situation in a disease or syndrome','Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.'),('31825','Methanol poisoning','Disease','Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).'),('31826','Ethylene glycol poisoning','Disease','Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.'),('31827','Paraquat poisoning','Disease','Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.'),('31828','Digitalis poisoning','Particular clinical situation in a disease or syndrome','Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.'),('31837','Pulmonary venoocclusive disease','Disease','no definition available'),('3184','Steatocystoma multiplex-natal teeth syndrome','Malformation syndrome','The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.'),('3185','NON RARE IN EUROPE: Polycystic ovary syndrome','Disease','no definition available'),('3186','Holoprosencephaly-radial heart renal anomalies syndrome','Malformation syndrome','Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.'),('3188','Congenital pulmonary veins atresia or stenosis','Morphological anomaly','Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH) (see this term). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly (see this term) and septal defects.'),('3189','Congenital pulmonary valve stenosis','Morphological anomaly','Congenital pulmonary stenosis (PS) is a congenital heart malformation (see this term) that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS; see these terms).'),('319','Skeletal Ewing sarcoma','Disease','Ewing`s sarcoma is a malignant small round cell bone tumor with strong metastatic potential.'),('3190','Subpulmonary stenosis','Clinical subtype','no definition available'),('3191','Subaortic stenosis-short stature syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.'),('319160','Congenital myopathy with internal nuclei and atypical cores','Disease','Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.'),('319171','Distal 17p13.1 microdeletion syndrome','Malformation syndrome','Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.'),('319182','Wiedemann-Steiner syndrome','Malformation syndrome','Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.'),('319189','Familial cortical myoclonus','Disease','Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.'),('319192','Diencephalic-mesencephalic junction dysplasia','Morphological anomaly','Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the `butterfly sign` is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.'),('319195','Chondroectodermal dysplasia with night blindness','Disease','Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.'),('319199','Autosomal recessive spastic paraplegia type 53','Disease','Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.'),('3192','Supravalvular pulmonary stenosis','Clinical subtype','no definition available'),('319205','Bilateral massive adrenal hemorrhage','Etiological subtype','no definition available'),('319213','Lujo hemorrhagic fever','Disease','Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.'),('319218','Ebola hemorrhagic fever','Disease','Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.'),('319223','Argentine hemorrhagic fever','Disease','A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.'),('319229','Bolivian hemorrhagic fever','Disease','Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.'),('319234','Venezuelan hemorrhagic fever','Disease','Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.'),('319239','Brazilian hemorrhagic fever','Disease','Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.'),('319244','Chapare hemorrhagic fever','Disease','Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.'),('319247','Hantavirus pulmonary syndrome','Disease','A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.'),('319251','Rift valley fever','Disease','Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.'),('319254','Kyasanur forest disease','Disease','Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.'),('319266','Omsk hemorrhagic fever','Disease','Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.'),('319276','Clear cell renal carcinoma','Disease','A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.'),('319287','Multilocular cystic renal neoplasm of low malignant potential','Histopathological subtype','Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.'),('319298','Papillary renal cell carcinoma','Disease','Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.'),('3193','Supravalvular aortic stenosis','Morphological anomaly','SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.'),('319303','Chromophobe renal cell carcinoma','Disease','Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.'),('319308','MiT family translocation renal cell carcinoma','Disease','MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.'),('319314','OBSOLETE: Renal cell carcinoma associated with neuroblastoma','Disease','no definition available'),('319319','Renal medullary carcinoma','Disease','Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.'),('319322','Mucinous tubular and spindle cell renal carcinoma','Disease','Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.'),('319325','Tubulocystic renal cell carcinoma','Disease','Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.'),('319328','Inherited renal cancer-predisposing syndrome','Category','no definition available'),('319332','Autosomal recessive myogenic arthrogryposis multiplex congenita','Disease','Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.'),('319340','Carney complex-trismus-pseudocamptodactyly syndrome','Disease','Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).'),('3194','Corneodermatoosseous syndrome','Malformation syndrome','A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.'),('319462','Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations','Disease','Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.'),('319465','Inherited acute myeloid leukemia','Disease','Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.'),('319480','Acute myeloid leukemia with CEBPA somatic mutations','Disease','A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).'),('319487','Familial papillary or follicular thyroid carcinoma','Disease','Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.'),('319494','Familial nonmedullary thyroid carcinoma','Clinical group','Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.'),('3195','Sternal malformation-vascular dysplasia syndrome','Malformation syndrome','no definition available'),('319504','Combined oxidative phosphorylation defect type 8','Disease','Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.'),('319509','Combined oxidative phosphorylation defect type 9','Disease','Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.'),('319514','Combined oxidative phosphorylation defect type 13','Disease','Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.'),('319519','Combined oxidative phosphorylation defect type 14','Disease','Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.'),('319524','Combined oxidative phosphorylation defect type 15','Disease','Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.'),('319535','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency','Category','A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.'),('319539','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency','Category','A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.'),('319543','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency','Category','A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).'),('319547','Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency','Disease','Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319552','Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.'),('319558','Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.'),('319563','Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.'),('319569','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency','Disease','A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319574','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency','Disease','Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319581','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency','Disease','A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319589','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency','Disease','A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319595','Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.'),('3196','Steroid dehydrogenase deficiency-dental anomalies syndrome','Disease','Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.'),('319600','Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..'),('319605','X-linked mendelian susceptibility to mycobacterial diseases','Disease','X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.'),('319612','X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency','Etiological subtype','no definition available'),('319623','X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency','Etiological subtype','no definition available'),('319635','Amyloidosis cutis dyschromia','Disease','A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.'),('319640','Retinal macular dystrophy type 2','Disease','Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ``bull`s eye`` maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.'),('319646','PGM1-CDG','Disease','A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.'),('319651','Constitutional megaloblastic anemia with severe neurologic disease','Disease','no definition available'),('319658','NON RARE IN EUROPE: Unexplained intellectual disability','Disease','no definition available'),('319667','Primary lymphoma of the conjunctiva','Disease','Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ``fleshy`` patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.'),('319671','Microcephalic primordial dwarfism, Alazami type','Malformation syndrome','Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.'),('319675','Microcephalic primordial dwarfism, Dauber type','Malformation syndrome','Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.'),('319678','Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome','Disease','Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.'),('319681','NON RARE IN EUROPE: Lactase non-persistence in adulthood','Disease','no definition available'),('319684','NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency','Disease','no definition available'),('319691','NON RARE IN EUROPE: Partial color blindness, protan type','Disease','no definition available'),('319698','NON RARE IN EUROPE: Partial color blindness, deutan type','Disease','no definition available'),('3197','Hereditary hyperekplexia','Disease','Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.'),('319705','NON RARE IN EUROPE: Parkinson disease','Disease','no definition available'),('319719','Autoinflammatory syndrome of childhood','Category','no definition available'),('3198','Stiff person spectrum disorder','Disease','A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.'),('3199','Stimmler syndrome','Malformation syndrome','Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.'),('32','Glutathione synthetase deficiency','Disease','A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.'),('320','Apparent mineralocorticoid excess','Disease','A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.'),('3200','Arthrogryposis-ectodermal dysplasia syndrome','Malformation syndrome','A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.'),('3201','Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome','Malformation syndrome','This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).'),('3202','Dehydrated hereditary stomatocytosis','Disease','Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.'),('3203','Overhydrated hereditary stomatocytosis','Disease','Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.'),('320317','OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome','Clinical group','no definition available'),('320332','X-linked pure spastic paraplegia','Clinical group','no definition available'),('320335','Pure or complex hereditary spastic paraplegia','Clinical group','no definition available'),('320342','Pure or complex autosomal dominant spastic paraplegia','Clinical group','no definition available'),('320346','Pure or complex autosomal recessive spastic paraplegia','Clinical group','no definition available'),('320350','Pure or complex X-linked spastic paraplegia','Clinical group','no definition available'),('320355','Autosomal dominant spastic paraplegia type 41','Disease','A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.'),('320360','MT-ATP6-related mitochondrial spastic paraplegia','Disease','MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.'),('320365','Autosomal dominant spastic paraplegia type 36','Disease','A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.'),('320370','Autosomal recessive spastic paraplegia type 43','Disease','Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.'),('320375','Autosomal recessive spastic paraplegia type 55','Disease','Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.'),('320380','Autosomal recessive spastic paraplegia type 54','Disease','Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.'),('320385','Hereditary sensory and autonomic neuropathy due to TECPR2 mutation','Disease','Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.'),('320391','Autosomal recessive spastic paraplegia type 46','Disease','Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.'),('320396','Autosomal recessive spastic paraplegia type 45','Disease','Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.'),('3204','Stormorken-Sjaastad-Langslet syndrome','Disease','Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.'),('320401','Autosomal recessive spastic paraplegia type 44','Disease','Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.'),('320406','Spastic paraplegia-optic atrophy-neuropathy syndrome','Disease','Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.'),('320411','Autosomal recessive spastic paraplegia type 56','Disease','A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.'),('3205','Sturge-Weber syndrome','Malformation syndrome','Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.'),('3206','Stüve-Wiedemann syndrome','Malformation syndrome','Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.'),('3207','White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.'),('3208','Isolated succinate-CoQ reductase deficiency','Disease','A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.'),('321','Multiple osteochondromas','Disease','Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.'),('3210','Summitt syndrome','Malformation syndrome','Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.'),('3212','Autosomal dominant optic atrophy and congenital deafness','Disease','no definition available'),('3213','Deafness-opticoacoustic nerve atrophy-dementia syndrome','Disease','no definition available'),('3214','Deaf blind hypopigmentation syndrome, Yemenite type','Malformation syndrome','Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.'),('3215','OBSOLETE: Deafness-white hair-contractures-papillomas syndrome','Disease','no definition available'),('3216','Conductive deafness-malformed external ear syndrome','Malformation syndrome','A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.'),('3217','Deafness-small bowel diverticulosis-neuropathy syndrome','Disease','A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.'),('3218','Deafness-epiphyseal dysplasia-short stature syndrome','Malformation syndrome','This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).'),('3219','Fountain syndrome','Malformation syndrome','Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.'),('322','Exstrophy-epispadias complex','Malformation syndrome','Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.'),('3220','Deafness-enamel hypoplasia-nail defects syndrome','Malformation syndrome','Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau`s lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.'),('3221','Generalized resistance to thyroid hormone','Disease','no definition available'),('322126','Genetic tumor of hematopoietic and lymphoid tissues','Category','no definition available'),('3222','Phosphoribosylpyrophosphate synthetase superactivity','Disease','A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.'),('3224','Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome','Malformation syndrome','Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).'),('3225','Hearing loss-familial salivary gland insensitivity to aldosterone syndrome','Malformation syndrome','Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.'),('3226','Deafness-lymphedema-leukemia syndrome','Malformation syndrome','Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.'),('3228','OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome','Disease','no definition available'),('3229','OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome','Malformation syndrome','no definition available'),('323','NON RARE IN EUROPE: FG syndrome phenotypic spectrum','Malformation syndrome','no definition available'),('3230','Deafness-oligodontia syndrome','Malformation syndrome','Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.'),('3231','Deafness-onychodystrophy syndrome','Clinical group','Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.'),('3232','Deafness-ear malformation-facial palsy syndrome','Malformation syndrome','Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.'),('3233','Cochleosaccular degeneration-cataract syndrome','Malformation syndrome','Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.'),('3235','Progressive deafness with stapes fixation','Malformation syndrome','Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget`s disease and osteogenesis imperfecta (Lobstein disease).'),('3236','Conductive deafness-ptosis-skeletal anomalies syndrome','Malformation syndrome','Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.'),('3237','Multiple synostoses syndrome','Malformation syndrome','Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.'),('3238','Cardiospondylocarpofacial syndrome','Malformation syndrome','Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.'),('3239','Deafness-vitiligo-achalasia syndrome','Malformation syndrome','Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.'),('324','Fabry disease','Disease','Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.'),('3240','Central nervous system calcification-deafness-tubular acidosis-anemia syndrome','Disease','A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis. There have been no further descriptions in the literature since 1997.'),('3241','Deafness-craniofacial syndrome','Malformation syndrome','Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.'),('3242','Renpenning syndrome','Malformation syndrome','Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.'),('324262','Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency','Clinical subtype','A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.'),('324290','Early-onset Lafora body disease','Disease','A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.'),('324294','T-cell immunodeficiency with epidermodysplasia verruciformis','Disease','A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.'),('324299','Multiple paragangliomas associated with polycythemia','Disease','A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.'),('3243','Sweet syndrome','Disease','Sweet`s syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.'),('324307','Severe lateral tibial bowing with short stature','Disease','Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.'),('324313','9p13 microdeletion syndrome','Malformation syndrome','9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).'),('324321','Sinoatrial node dysfunction and deafness','Disease','Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.'),('324353','Congenital achiasma','Morphological anomaly','Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.'),('324364','Mixed sclerosing bone dystrophy with extra-skeletal manifestations','Disease','A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.'),('324381','Hereditary inclusion body myopathy type 4','Disease','Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.'),('324410','X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome','Disease','X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.'),('324416','Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome','Malformation syndrome','Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.'),('324422','ALG13-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).'),('324442','Autosomal recessive axonal neuropathy with neuromyotonia','Disease','A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.'),('324525','Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation','Disease','A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.'),('324530','Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation','Disease','A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.'),('324535','Combined oxidative phosphorylation defect type 11','Disease','A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.'),('324540','Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.'),('324561','Hypopigmentation-punctate palmoplantar keratoderma syndrome','Disease','A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.'),('324569','Pontocerebellar hypoplasia type 8','Malformation syndrome','Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.'),('324575','Hyperinsulinism due to HNF1A deficiency','Disease','Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.'),('324581','Benign Samaritan congenital myopathy','Disease','Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.'),('324585','Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain','Disease','A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.'),('324588','Familial dyskinesia and facial myokymia','Disease','Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.'),('3246','Symphalangism with multiple anomalies of hands and feet','Malformation syndrome','Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.'),('324601','X-linked cleft palate and ankyloglossia','Malformation syndrome','X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.'),('324604','Classic multiminicore myopathy','Clinical subtype','no definition available'),('324611','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation','Disease','A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.'),('324625','Chikungunya','Disease','A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.'),('324632','Hendra virus infection','Disease','Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.'),('324636','Autoerythrocyte sensitization syndrome','Disease','no definition available'),('324648','Invasive non-typhoidal salmonellosis','Disease','Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.'),('324703','ABetaL34V amyloidosis','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.'),('324708','ABeta amyloidosis, Iowa type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.'),('324713','ABeta amyloidosis, Italian type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.'),('324718','ABetaA21G amyloidosis','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer`s disease-like dementia and lobar intracerebral hemorrhage in some patients.'),('324723','ABeta amyloidosis, Arctic type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer`s disease-like dementia, without intracerebral hemorrhages.'),('324737','SRD5A3-CDG','Disease','SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.'),('324761','Microcephalic primordial dwarfism','Clinical group','no definition available'),('324764','Trichorhinophalangeal syndrome','Clinical group','no definition available'),('324767','Non-familial rare disease with dilated cardiomyopathy','Category','no definition available'),('3248','Distal symphalangism','Morphological anomaly','Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.'),('324924','Hereditary periodic fever syndrome','Category','no definition available'),('324927','Pyogenic autoinflammatory syndrome','Category','no definition available'),('324930','Granulomatous autoinflammatory syndrome','Category','no definition available'),('324933','Mixed autoinflammatory and autoimmune syndrome','Category','Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincially with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.'),('324936','Unclassified autoinflammatory syndrome','Category','no definition available'),('324939','Periodic fever syndrome of childhood','Category','no definition available'),('324942','Pyogenic autoinflammatory syndrome of childhood','Category','no definition available'),('324950','Granulomatous autoinflammatory syndrome of childhood','Category','no definition available'),('324953','Unclassified autoinflammatory syndrome of childhood','Category','no definition available'),('324960','Unexplained periodic fever syndrome of childhood','Category','no definition available'),('324964','Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis','Disease','Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.'),('324972','MAGIC syndrome','Disease','no definition available'),('324977','Proteasome-associated autoinflammatory syndrome','Disease','Proteasome disability syndrome describes a group of autosomal recessively inherited autoinflammatory disorders characterized by lipodystrophy and skin eruptions. The disorders belonging to this group include Nakajo-Nishimura syndrome (NNS), JMP syndrome and CANDLE syndrome and all are caused by mutations in the PSMB8 gene (6p21.3).'),('324982','OBSOLETE: Adult-onset SAPHO syndrome','Clinical subtype','no definition available'),('324989','OBSOLETE: Juvenile-onset SAPHO syndrome','Clinical subtype','no definition available'),('324999','JMP syndrome','Clinical subtype','no definition available'),('325','Congenital factor II deficiency','Disease','An inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.'),('3250','Proximal symphalangism','Malformation syndrome','Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.'),('325004','CANDLE syndrome','Clinical subtype','no definition available'),('325055','46,XX disorder of gonadal development','Category','no definition available'),('325061','46,XX disorder of sex development induced by fetoplacental androgens excess','Category','no definition available'),('325093','46,XX disorder of sex development induced by endogenous maternal-derived androgen','Clinical group','no definition available'),('325099','46,XX disorder of sex development induced by exogenous maternal-derived androgen','Clinical group','no definition available'),('325109','Syndrome with 46,XX disorder of sex development','Category','no definition available'),('325118','46,XY disorder of gonadal development','Category','no definition available'),('325124','Testicular agenesis','Morphological anomaly','no definition available'),('3253','Cleft lip/palate-ectodermal dysplasia syndrome','Malformation syndrome','Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.'),('325345','46,XY ovotesticular disorder of sex development','Disease','46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.'),('325351','46,XY disorder of sex development of endocrine origin','Category','no definition available'),('325357','46,XY disorder of sex development due to impaired androgen production','Category','no definition available'),('325448','Leydig cell hypoplasia due to LHB deficiency','Clinical subtype','no definition available'),('3255','Filippi syndrome','Malformation syndrome','Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.'),('325511','46,XY disorder of sex development due to a cholesterol synthesis defect','Category','no definition available'),('325524','Classic congenital lipoid adrenal hyperplasia due to STAR deficency','Clinical subtype','no definition available'),('325529','Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency','Clinical subtype','no definition available'),('325537','46,XY disorder of sex development induced by maternal exposure to endocrine disruptors','Category','no definition available'),('325546','Sex chromosome disorder of sex development','Category','no definition available'),('325620','Disorder of sex development of gynecological interest','Category','no definition available'),('325632','46,XY disorder of sex development of gynecological interest','Category','no definition available'),('325638','Syndrome with disorder of sex development of gynecological interest','Category','no definition available'),('325665','Genetic disorder of sex development of gynecological interest','Category','no definition available'),('325690','Genetic disorder of sex development','Category','no definition available'),('325697','Genetic 46,XX disorder of sex development','Category','no definition available'),('325706','Genetic 46,XY disorder of sex development','Category','no definition available'),('325713','Genetic 46,XY disorder of sex development of endocrine origin','Category','no definition available'),('3258','Cenani-Lenz syndrome','Malformation syndrome','Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.'),('3259','Syndactyly-polydactyly-ear lobe syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.'),('326','Congenital factor V deficiency','Disease','Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.'),('3260','Idiopathic hypereosinophilic syndrome','Disease','no definition available'),('3261','Autoimmune lymphoproliferative syndrome','Disease','A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin`s and non-Hodgkin`s lymphoma.'),('3262','Dobrow syndrome','Malformation syndrome','Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.'),('3263','Syngnathia-cleft palate syndrome','Malformation syndrome','no definition available'),('3265','Humero-radial synostosis','Morphological anomaly','Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.'),('3266','Humero-radio-ulnar synostosis','Morphological anomaly','Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.'),('3267','Familial lambdoid synostosis','Morphological anomaly','Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.'),('3268','Radioulnar synostosis-microcephaly-scoliosis syndrome','Malformation syndrome','Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.'),('3269','Congenital radioulnar synostosis','Morphological anomaly','Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.'),('327','Congenital factor VII deficiency','Disease','A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.'),('3270','Radioulnar synostosis-developmental delay-hypotonia syndrome','Malformation syndrome','Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).'),('3271','Radio-ulnar synostosis-retinal pigment abnormalities syndrome','Malformation syndrome','no definition available'),('3273','Synovial sarcoma','Disease','Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).'),('3274','Granulomatous arthritis of childhood','Disease','no definition available'),('3275','Spondylocarpotarsal synostosis','Malformation syndrome','A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.'),('3276','Disorder of plasmalogens biosynthesis','Category','no definition available'),('328','Congenital factor X deficiency','Disease','Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.'),('3280','Syringomyelia','Clinical group','Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).'),('3282','Multifocal atrial tachycardia','Disease','Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.'),('328269','OBSOLETE: Rare bone disease with limb reduction defect','Clinical group','no definition available'),('3283','His bundle tachycardia','Disease','His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.'),('3284','OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome','Disease','no definition available'),('3286','Catecholaminergic polymorphic ventricular tachycardia','Disease','Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.'),('3287','Takayasu arteritis','Disease','A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.'),('3289','NON RARE IN EUROPE: Taurodontism','Morphological anomaly','no definition available'),('329','Congenital factor XI deficiency','Disease','Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.'),('3291','Teebi-Shaltout syndrome','Malformation syndrome','Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.'),('329173','Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis','Disease','A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.'),('329178','Congenital muscular dystrophy with intellectual disability and severe epilepsy','Disease','Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.'),('329191','Tall stature-scoliosis-macrodactyly of the great toes syndrome','Disease','Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.'),('329195','Developmental delay with autism spectrum disorder and gait instability','Disease','Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.'),('3292','Tel Hashomer camptodactyly syndrome','Malformation syndrome','Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.'),('329206','OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome','Disease','no definition available'),('329211','Autosomal dominant neovascular inflammatory vitreoretinopathy','Disease','A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.'),('329217','Cerebral sinovenous thrombosis','Disease','A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.'),('329224','Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome','Malformation syndrome','Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.'),('329228','Microcephalic primordial dwarfism due to ZNF335 deficiency','Malformation syndrome','Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.'),('329235','X-linked central congenital hypothyroidism with late-onset testicular enlargement','Disease','X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.'),('329242','Congenital chronic diarrhea with protein-losing enteropathy','Disease','Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.'),('329249','Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency','Etiological subtype','A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.'),('329252','Spondylocostal dysostosis-hypospadias-intellectual disability syndrome','Disease','Spondylocostal dysostosis-hypospadias-intellectual disability syndrome is a rare, genetic, bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers.'),('329255','Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency','Disease','no definition available'),('329258','Autosomal dominant Charcot-Marie-Tooth disease type 2Q','Disease','A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.'),('329284','Beta-propeller protein-associated neurodegeneration','Disease','Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.'),('3293','Telecanthus-hypertelorism-strabismus-pes cavus syndrome','Malformation syndrome','Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.'),('329303','PLA2G6-associated neurodegeneration','Clinical group','no definition available'),('329308','Fatty acid hydroxylase-associated neurodegeneration','Disease','Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.'),('329314','Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency','Disease','An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.'),('329319','Thrombocythemia with distal limb defects','Disease','Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.'),('329324','Inverse Klippel-Trénaunay syndrome','Disease','no definition available'),('329329','Autosomal recessive frontotemporal pachygyria','Malformation syndrome','A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.'),('329332','Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome','Malformation syndrome','Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.'),('329336','Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy','Disease','A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.'),('329341','Limbic encephalitis with DPP6 antibodies','Disease','Limbic encephalitis with DPP6 antibodies is a rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthia, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation.'),('3294','Extensor tendons of finger anomalies','Malformation syndrome','Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.'),('329457','Distal arthrogryposis type 5D','Disease','Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.'),('329466','Autosomal dominant focal dystonia, DYT25 type','Disease','A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.'),('329469','Acute megakaryoblastic leukemia without Down syndrome','Clinical subtype','no definition available'),('329475','Spastic paraplegia-Paget disease of bone syndrome','Disease','Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.'),('329478','Adult-onset distal myopathy due to VCP mutation','Disease','A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.'),('329481','Lipoprotein glomerulopathy','Disease','no definition available'),('32960','Tumor necrosis factor receptor 1 associated periodic syndrome','Disease','Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).'),('329802','5p13 microduplication syndrome','Malformation syndrome','A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).'),('329813','Mosaic genome-wide paternal uniparental disomy','Malformation syndrome','A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.'),('329874','Idiopathic giant cell myocarditis','Disease','A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders.'),('329883','Non-hypoproteinemic hypertrophic gastropathy','Disease','Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.'),('329888','Juvenile idiopathic inflammatory myopathy','Category','no definition available'),('329894','Juvenile overlap myositis','Disease','Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.'),('3299','Tetanus','Disease','A toxin-mediated infection due to the anaerobic bacteria Clostridium tetani and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal.'),('329903','Immunoglobulin-mediated membranoproliferative glomerulonephritis','Clinical subtype','no definition available'),('329918','C3 glomerulopathy','Clinical subtype','no definition available'),('329931','C3 glomerulonephritis','Histopathological subtype','no definition available'),('329942','Transient neonatal multiple acyl-CoA dehydrogenase deficiency','Disease','Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.'),('329967','Intermittent hydrarthrosis','Disease','no definition available'),('329971','Generalized juvenile polyposis/juvenile polyposis coli','Clinical subtype','no definition available'),('329977','Classic neuroendocrine tumor of appendix','Clinical subtype','Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix (see this term), seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.'),('329984','Goblet cell carcinoma','Clinical subtype','Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.'),('329998','OBSOLETE: Lymphomatous meningitis','Particular clinical situation in a disease or syndrome','no definition available'),('33','Isovaleric acidemia','Disease','An autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ``sweaty feet`` odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.'),('330','Congenital factor XII deficiency','Disease','A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.'),('330001','Wild type ATTR amyloidosis','Disease','A rare systemic amyloidosis characterized by combination of various symptoms, depending on the organ involved. Common clinical features are cardiac failure, cardiac conduction anomalies or arrhythmia, renal dysfunction, carpal tunnel syndrome and spinal canal stenosis. Histology reveals fibrillary amyloid deposition of wild type transthyretin mostly in the kidneys, heart, gastrointestinal tract, skin and tenosynovial tissue.'),('330006','NON RARE IN EUROPE: Macular telangiectasia type 2','Disease','no definition available'),('330009','OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk','Particular clinical situation in a disease or syndrome','no definition available'),('33001','Lymphedema-distichiasis syndrome','Malformation syndrome','Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.'),('330012','High altitude pulmonary edema','Particular clinical situation in a disease or syndrome','no definition available'),('330015','Lead poisoning','Disease','Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.'),('330021','Mercury poisoning','Disease','Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.'),('330029','Hypotrichosis-deafness syndrome','Disease','A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.'),('330032','Hemoglobin Lepore-beta-thalassemia syndrome','Disease','no definition available'),('330041','Hemoglobin M disease','Disease','A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.'),('330050','DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect','Etiological subtype','no definition available'),('330054','Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome','Disease','Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.'),('330058','Hydroa vacciniforme','Disease','no definition available'),('330061','Actinic prurigo','Disease','A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.'),('330064','Chronic actinic dermatitis','Disease','Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.'),('3301','Tetraamelia-multiple malformations syndrome','Malformation syndrome','Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.'),('330197','Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome','Category','no definition available'),('330206','Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability','Category','no definition available'),('3303','Tetralogy of Fallot','Malformation syndrome','Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.'),('3304','Fallot complex-intellectual disability-growth delay syndrome','Malformation syndrome','Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.'),('3305','Tetraploidy','Malformation syndrome','Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.'),('3306','Inverted duplicated chromosome 15 syndrome','Malformation syndrome','A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.'),('33067','Metaphyseal chondrodysplasia, Jansen type','Disease','Jansen`s metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.'),('33069','Dravet syndrome','Disease','Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.'),('3307','Tetrasomy 18p','Malformation syndrome','Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.'),('3309','Tetrasomy 5p','Malformation syndrome','Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).'),('331','Congenital factor XIII deficiency','Disease','Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.'),('3310','Tetrasomy 9p','Malformation syndrome','Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).'),('33108','Lethal multiple pterygium syndrome','Malformation syndrome','A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.'),('3311','OBSOLETE: Infantile symmetrical thalamic degeneration','Disease','no definition available'),('33110','Autosomal agammaglobulinemia','Clinical subtype','A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.'),('33111','Granulomatous slack skin','Disease','Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.'),('331176','Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency','Disease','Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.'),('331184','Constitutional neutropenia with extra-hematopoietic manifestations','Category','no definition available'),('331187','Immunodeficiency due to MASP-2 deficiency','Disease','Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.'),('331190','Immunodeficiency due to ficolin3 deficiency','Disease','Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.'),('331193','Other immunodeficiency syndromes due to defects in innate immunity','Category','no definition available'),('3312','Thalidomide embryopathy','Malformation syndrome','Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.'),('331206','Severe combined immunodeficiency due to complete RAG1/2 deficiency','Disease','Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.'),('331217','Syndrome with combined immunodeficiency','Category','no definition available'),('331220','Immunodeficiency due to absence of thymus','Category','no definition available'),('331223','Hyper-IgE syndrome','Clinical group','no definition available'),('331226','Susceptibility to infection due to TYK2 deficiency','Disease','Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.'),('331232','Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells','Category','no definition available'),('331235','Selective IgM deficiency','Disease','no definition available'),('331240','Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells','Category','no definition available'),('331244','Other immunodeficiency syndrome with predominantly antibody defects','Category','no definition available'),('331249','Immunodeficiency syndrome with hypopigmentation','Category','no definition available'),('3313','OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome','Disease','no definition available'),('3314','Thiemann disease, familial form','Disease','Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.'),('3315','NON RARE IN EUROPE: Thiopurine S-methyltransferase deficiency','Disease','no definition available'),('3316','Thomas syndrome','Malformation syndrome','Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.'),('3317','Thoracolaryngopelvic dysplasia','Malformation syndrome','Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.'),('3318','Essential thrombocythemia','Disease','Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.'),('3319','Congenital amegakaryocytic thrombocytopenia','Disease','An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.'),('332','Congenital intrinsic factor deficiency','Disease','Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.'),('3320','Thrombocytopenia-absent radius syndrome','Malformation syndrome','Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.'),('33208','Idiopathic hypersomnia','Disease','Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.'),('3322','Hoyeraal-Hreidarsson syndrome','Disease','An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.'),('33226','Waldenström macroglobulinemia','Disease','Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.'),('3323','Braddock-Carey syndrome','Malformation syndrome','no definition available'),('3324','Familial thrombomodulin anomalies','Disease','Familial thrombomodulin anomalies is a rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.'),('3325','Heparin-induced thrombocytopenia','Disease','A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.'),('3326','Thymic-renal-anal-lung dysplasia','Malformation syndrome','This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.'),('3327','Thyrocerebrorenal syndrome','Malformation syndrome','A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.'),('33271','NON RARE IN EUROPE: Non-alcoholic fatty liver disease','Clinical syndrome','no definition available'),('33276','Kaposi sarcoma','Disease','A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.'),('3328','Absent tibia-polydactyly-arachnoid cyst syndrome','Malformation syndrome','Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.'),('3329','Tibial aplasia-ectrodactyly syndrome','Malformation syndrome','Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.'),('333','Farber disease','Disease','A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.'),('3331','OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome','Malformation syndrome','no definition available'),('33314','Jessner lymphocytic infiltration of the skin','Disease','Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.'),('3332','Hypoplastic tibiae-postaxial polydactyly syndrome','Malformation syndrome','Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.'),('3333','Connective tissue dysplasia, Spellacy type','Disease','no definition available'),('33355','Reticular dysgenesis','Disease','Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.'),('3336','Tomé-Brunet-Fardeau syndrome','Malformation syndrome','no definition available'),('33364','Trichothiodystrophy','Disease','Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).'),('3337','Primary Fanconi renotubular syndrome','Disease','A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.'),('3338','Toriello-Carey syndrome','Malformation syndrome','Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.'),('3339','Toriello-Lacassie-Droste syndrome','Malformation syndrome','Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.'),('334','Familial atrial fibrillation','Disease','Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.'),('3340','OBSOLETE: Torres-Aybar syndrome','Malformation syndrome','no definition available'),('33402','Pediatric hepatocellular carcinoma','Disease','A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).'),('33408','Bullous lichen planus','Disease','Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.'),('33409','NON RARE IN EUROPE: Lichen sclerosus','Disease','no definition available'),('3341','Torticollis-keloids-cryptorchidism-renal dysplasia syndrome','Malformation syndrome','Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.'),('3342','Arterial tortuosity syndrome','Malformation syndrome','A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.'),('3343','Toxocariasis','Disease','A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).'),('3344','Weismann-Netter syndrome','Malformation syndrome','Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.'),('33445','Neuroectodermal melanolysosomal disease','Malformation syndrome','Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.'),('3346','Tracheal agenesis','Morphological anomaly','Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.'),('3347','Mounier-Kühn syndrome','Clinical syndrome','A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.'),('33475','Meningococcal meningitis','Disease','Meningococcal meningitis is an acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.'),('3348','Tracheobronchopathia osteochondroplastica','Disease','Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.'),('3349','Treft-Sanborn-Carey syndrome','Disease','no definition available'),('335','Congenital fibrinogen deficiency','Disease','Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).'),('3350','Tremor-nystagmus-duodenal ulcer syndrome','Disease','Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.'),('3351','Trichodental syndrome','Malformation syndrome','Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.'),('3352','Tricho-dento-osseous syndrome','Malformation syndrome','Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.'),('3353','Trichodermodysplasia-dental alterations syndrome','Malformation syndrome','Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.'),('3354','OBSOLETE: Tricho-oculo-dermo-vertebral syndrome','Malformation syndrome','no definition available'),('33543','Kleine-Levin syndrome','Disease','Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.'),('3355','Trichoodontoonychial dysplasia','Malformation syndrome','Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.'),('3357','OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly','Malformation syndrome','no definition available'),('33572','5-oxoprolinase deficiency','Disease','A very heterogeneous condition characterized by 5-oxoprolinuria.'),('33573','Gamma-glutamyl transpeptidase deficiency','Disease','A disorder that is characterized by increased glutathione concentration in the plasma and urine.'),('33574','Glutamate-cysteine ligase deficiency','Disease','A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.'),('33577','Nodular non-suppurative panniculitis','Disease','A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.'),('336','NON RARE IN EUROPE: Fibromuscular dysplasia of arteries','Disease','no definition available'),('3360','OBSOLETE: Trichodermal syndrome-intellectual disability syndrome','Malformation syndrome','no definition available'),('3361','Trichodysplasia-xeroderma syndrome','Malformation syndrome','Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.'),('3362','OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome','Malformation syndrome','no definition available'),('3363','Trichomegaly-retina pigmentary degeneration-dwarfism syndrome','Malformation syndrome','Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.'),('3365','Trigonocephaly-broad thumbs syndrome','Malformation syndrome','Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.'),('3366','Isolated trigonocephaly','Morphological anomaly','Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.'),('3368','Trigonocephaly-bifid nose-acral anomalies syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.'),('3369','Trigonocephaly-short stature-developmental delay syndrome','Malformation syndrome','Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.'),('337','Fibrodysplasia ossificans progressiva','Disease','Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.'),('3374','Triopia','Morphological anomaly','no definition available'),('3375','Trisomy X','Malformation syndrome','Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).'),('3376','Triploidy','Malformation syndrome','Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.'),('3377','Trismus-pseudocamptodactyly syndrome','Malformation syndrome','A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.'),('3378','Trisomy 13','Malformation syndrome','Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.'),('3379','Distal trisomy 17q','Malformation syndrome','Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.'),('338','Familial multiple fibrofolliculoma','Disease','no definition available'),('3380','Trisomy 18','Malformation syndrome','Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.'),('3383','Humerus trochlea aplasia','Malformation syndrome','Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.'),('3384','Truncus arteriosus','Morphological anomaly','Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.'),('3385','African trypanosomiasis','Disease','Human African Trypanosomiasis (HAT), also called sleeping sickness, is a vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.'),('3386','American trypanosomiasis','Disease','A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.'),('3387','Isolated anterior cervical hypertrichosis','Disease','A rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.'),('3388','Neural tube defect','Category','no definition available'),('3389','Tuberculosis','Disease','Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.'),('3390','Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome','Disease','no definition available'),('3391','Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome','Malformation syndrome','no definition available'),('3392','Tularemia','Disease','A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.'),('3394','Soft tissue sarcoma','Clinical group','no definition available'),('3398','Thymic epithelial neoplasm','Category','Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).'),('3399','Germ cell tumor','Category','no definition available'),('34','Pipecolic acidemia','Disease','no definition available'),('340','Hemorrhagic fever-renal syndrome','Disease','Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.'),('3400','Aorto-ventricular tunnel','Morphological anomaly','A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.'),('3402','Transient tyrosinemia of the newborn','Disease','Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.'),('3403','Uhl anomaly','Morphological anomaly','Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.'),('3404','Ulbright-Hodes syndrome','Malformation syndrome','Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.'),('3405','Umbilical cord ulceration-intestinal atresia syndrome','Malformation syndrome','A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.'),('3406','Ulerythema ophryogenesis','Disease','Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.'),('3408','Upington disease','Malformation syndrome','Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.'),('3409','Urban-Rogers-Meyer syndrome','Malformation syndrome','This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.'),('341','Viral hemorrhagic fever','Category','Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg`s disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).'),('3411','Double uterus-hemivagina-renal agenesis syndrome','Malformation syndrome','Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis (see this term) and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.'),('3412','VACTERL with hydrocephalus','Malformation syndrome','VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.'),('34145','NON RARE IN EUROPE: Berger disease','Disease','no definition available'),('34149','Autosomal dominant tubulointerstitial kidney disease','Disease','A chronic tubulointerstitial nephropathy, which belongs, together with nephronophthisis (NPH), to a heterogeneous group of inherited tubulo-interstitial nephritis, termed NPH-MCKD complex.'),('3416','Hyperostosis corticalis generalisata','Malformation syndrome','Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.'),('3417','Van den Bosch syndrome','Malformation syndrome','Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.'),('3419','OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome','Disease','no definition available'),('342','Familial Mediterranean fever','Disease','Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.'),('3421','Cerebroretinal vasculopathy','Disease','no definition available'),('34217','Naxos disease','Disease','A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.'),('3423','Vasquez-Hurst-Sotos syndrome','Malformation syndrome','no definition available'),('3424','Velo-facial-skeletal syndrome','Malformation syndrome','A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.'),('3426','Double outlet right ventricle','Morphological anomaly','A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.'),('3427','Double outlet left ventricle','Morphological anomaly','Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.'),('3429','Verloove Vanhorick-Brubakk syndrome','Malformation syndrome','Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.'),('343','Hyperimmunoglobulinemia D with periodic fever','Disease','A rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).'),('3433','Microcephaly-brachydactyly-kyphoscoliosis syndrome','Malformation syndrome','Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.'),('3434','MMEP syndrome','Malformation syndrome','The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.'),('3435','NON RARE IN EUROPE: Vitiligo','Disease','no definition available'),('3437','Vogt-Koyanagi-Harada disease','Disease','Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.'),('3438','Biliary tract malformation-renal failure syndrome','Disease','no definition available'),('3439','Von Voss-Cherstvoy syndrome','Malformation syndrome','Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.'),('344','Arbovirus fever','Category','A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.'),('3440','Waardenburg syndrome','Disease','Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.'),('34412','NON RARE IN EUROPE: HAIR-AN syndrome','Disease','no definition available'),('3444','Watson syndrome','Malformation syndrome','no definition available'),('3446','Weaver-like syndrome','Malformation syndrome','no definition available'),('3447','Weaver syndrome','Malformation syndrome','Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.'),('3448','Weaver-Williams syndrome','Malformation syndrome','Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.'),('3449','Weill-Marchesani syndrome','Malformation syndrome','Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.'),('345','Dissecting cellulitis of the scalp','Disease','Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.'),('3450','Weissenbacher-Zweymuller syndrome','Malformation syndrome','no definition available'),('3451','West syndrome','Clinical syndrome','A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.'),('34514','Telethonin-related limb-girdle muscular dystrophy R7','Disease','A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.'),('34515','FKRP-related limb-girdle muscular dystrophy R9','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.'),('34516','DNAJB6-related limb-girdle muscular dystrophy D1','Disease','A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.'),('34517','Autosomal dominant limb-girdle muscular dystrophy type 1E','Disease','no definition available'),('3452','Whipple disease','Disease','A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).'),('34520','Congenital muscular dystrophy with integrin alpha-7 deficiency','Disease','Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.'),('34521','Distal myopathy with early respiratory muscle involvement','Disease','no definition available'),('34526','Genetic primary hypomagnesemia','Category','A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood.'),('34527','Familial primary hypomagnesemia with normocalciuria and normocalcemia','Disease','A form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.'),('34528','Autosomal dominant primary hypomagnesemia with hypocalciuria','Disease','A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.'),('3453','Autoimmune polyendocrinopathy type 1','Disease','A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.'),('34533','Corneal dystrophy','Category','The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.'),('3454','Intellectual disability-developmental delay-contractures syndrome','Malformation syndrome','Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.'),('3455','Wiedemann-Rautenstrauch syndrome','Malformation syndrome','Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.'),('3456','Wildervanck syndrome','Malformation syndrome','Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.'),('34587','Glycogen storage disease due to LAMP-2 deficiency','Disease','Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.'),('3459','Wilson-Turner syndrome','Malformation syndrome','Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.'),('34592','Immunodeficiency by defective expression of MHC class I','Disease','Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.'),('346','Quinquaud folliculitis decalvans','Disease','A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.'),('3460','Torg-Winchester syndrome','Clinical subtype','no definition available'),('3463','Wolfram syndrome','Disease','A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.'),('3464','Woodhouse-Sakati syndrome','Disease','Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.'),('3465','Worster-Drought syndrome','Malformation syndrome','Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.'),('3466','WT limb-blood syndrome','Disease','A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.'),('3467','Hereditary xanthinuria','Disease','A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.'),('3469','XK aprosencephaly syndrome','Malformation syndrome','XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.'),('347','Frasier syndrome','Disease','A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.'),('3471','Young syndrome','Disease','Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.'),('3472','Yunis-Varon syndrome','Malformation syndrome','A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.'),('3473','Zimmermann-Laband syndrome','Malformation syndrome','Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.'),('3474','CHIME syndrome','Malformation syndrome','CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.'),('348','Fructose-1,6-bisphosphatase deficiency','Disease','Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.'),('349','Fucosidosis','Disease','Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.'),('35','Propionic acidemia','Disease','Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.'),('35056','NON RARE IN EUROPE: Trimethylaminuria','Disease','no definition available'),('35061','OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes','Disease','no definition available'),('35062','Idiopathic disseminated cytomegalovirus infection','Disease','no definition available'),('35063','Fulminant viral hepatitis','Disease','Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.'),('35064','OBSOLETE: Lethal idiopathic viral infection','Disease','no definition available'),('35065','OBSOLETE: Idiopathic severe pneumococcemia','Disease','no definition available'),('35066','NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis','Disease','no definition available'),('35069','Infantile neuroaxonal dystrophy','Disease','Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.'),('35078','T-B+ severe combined immunodeficiency due to JAK3 deficiency','Disease','Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.'),('35093','Isolated scaphocephaly','Morphological anomaly','Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.'),('35098','Isolated plagiocephaly','Morphological anomaly','Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.'),('35099','Isolated brachycephaly','Morphological anomaly','Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.'),('351','Galactosialidosis','Disease','Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ``cherry red spot``, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.'),('35107','Desmosterolosis','Disease','Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.'),('35120','Hemolytic anemia due to pyrimidine 5` nucleotidase deficiency','Disease','Hemolytic anemia due to pyrimidine 5` nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.'),('35121','Lysosomal acid phosphatase deficiency','Disease','no definition available'),('35122','Congenital sucrase-isomaltase deficiency','Disease','Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and disaccharides.'),('35123','OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency','Disease','no definition available'),('35125','Epidermal nevus syndrome','Disease','Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.'),('35173','X-linked dominant chondrodysplasia punctata','Disease','A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.'),('352','Galactosemia','Category','Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).'),('352298','OBSOLETE: Genetic muscular channelopathy','Category','no definition available'),('352301','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis','Category','no definition available'),('352306','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement','Category','no definition available'),('352309','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement','Category','no definition available'),('352312','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement','Category','no definition available'),('352328','MEGDEL syndrome','Disease','MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.'),('352333','Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome','Disease','no definition available'),('352403','Spectrin-associated autosomal recessive cerebellar ataxia','Disease','Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).'),('352447','Progressive external ophthalmoplegia-myopathy-emaciation syndrome','Disease','Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.'),('352456','Mitochondrial DNA maintenance syndrome','Category','no definition available'),('352470','DNA2-related mitochondrial DNA deletion syndrome','Disease','A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.'),('352479','ISPD-related limb-girdle muscular dystrophy R20','Disease','A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers` sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.'),('352482','OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement','Disease','no definition available'),('352487','Digital anomalies-intellectual disability-short stature syndrome','Disease','no definition available'),('352490','Autism spectrum disorder due to AUTS2 deficiency','Disease','A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.'),('352497','OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency','Disease','no definition available'),('352504','OBSOLETE: Levodopa-unresponsive juvenile parkinsonism','Disease','no definition available'),('352530','Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome','Disease','Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.'),('352540','Oncogenic osteomalacia','Disease','A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.'),('352563','Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency','Disease','A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.'),('352577','Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome','Disease','Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome is rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip.'),('352582','Familial infantile myoclonic epilepsy','Disease','A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.'),('352587','Focal epilepsy-intellectual disability-cerebro-cerebellar malformation','Disease','Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.'),('352596','Progressive myoclonic epilepsy with dystonia','Disease','Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.'),('352613','Male infertility due to NANOS1 mutation','Disease','no definition available'),('352629','16q24.1 microdeletion syndrome','Disease','A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).'),('352636','Phalangeal microgeodic syndrome','Disease','A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.'),('352641','Autosomal recessive cerebellar ataxia with late-onset spasticity','Disease','A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.'),('352649','Brain dopamine-serotonin vesicular transport disease','Disease','A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.'),('352654','Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome','Disease','A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.'),('352657','Hereditary benign intraepithelial dyskeratosis','Disease','A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.'),('352662','Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome','Disease','Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.'),('352665','Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion','Etiological subtype','no definition available'),('352670','Autosomal dominant intermediate Charcot-Marie-Tooth disease type F','Disease','A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.'),('352675','X-linked Charcot-Marie-Tooth disease type 6','Disease','X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).'),('352682','Cobblestone lissencephaly without muscular or ocular involvement','Disease','A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.'),('352687','Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies','Clinical group','Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.'),('352694','OBSOLETE: Cobblestone lissencephaly type A','Clinical group','no definition available'),('352699','OBSOLETE: Cobblestone lissencephaly type C','Clinical group','no definition available'),('352704','OBSOLETE: Cobblestone lissencephaly type B','Disease','no definition available'),('352709','CLN13 disease','Etiological subtype','no definition available'),('352712','Facial dysmorphism-immunodeficiency-livedo-short stature syndrome','Disease','Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.'),('352718','Progressive retinal dystrophy due to retinol transport defect','Disease','Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.'),('352723','Attenuated Chédiak-Higashi syndrome','Disease','A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.'),('352728','Disorder of melanin metabolism','Category','no definition available'),('352731','Oculocutaneous albinism type 1','Disease','A group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).'),('352734','Minimal pigment oculocutaneous albinism type 1','Clinical subtype','An extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.'),('352737','Temperature-sensitive oculocutaneous albinism type 1','Clinical subtype','An extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).'),('352740','Ocular albinism with congenital sensorineural deafness','Disease','Ocular albinism with congenital sensorineural deafness is a rare, genetic, oculocutaneous disorder characterized by profound, congenital, sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and café-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus, and an iris transillumination defect.'),('352745','Oculocutaneous albinism type 7','Disease','Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.'),('352763','Scleredema','Disease','no definition available'),('353','Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.'),('353217','Epileptic encephalopathy with global cerebral demyelination','Disease','Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.'),('353220','Familial primary localized cutaneous amyloidosis','Disease','no definition available'),('353225','NON RARE IN EUROPE: Primary adult open-angle glaucoma','Disease','no definition available'),('353253','Burning mouth syndrome','Disease','A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.'),('353277','Rubinstein-Taybi syndrome due to CREBBP mutations','Clinical subtype','no definition available'),('353281','Rubinstein-Taybi syndrome due to 16p13.3 microdeletion','Clinical subtype','no definition available'),('353284','Rubinstein-Taybi syndrome due to EP300 haploinsufficiency','Clinical subtype','no definition available'),('353298','Roifman syndrome','Disease','Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.'),('353308','Pyruvate carboxylase deficiency, infantile type','Clinical subtype','Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.'),('353314','Pyruvate carboxylase deficiency, severe neonatal type','Clinical subtype','Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.'),('353320','Pyruvate carboxylase deficiency, benign type','Clinical subtype','Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.'),('353327','Congenital myasthenic syndromes with glycosylation defect','Etiological subtype','no definition available'),('353334','Congenital retinal arteriovenous communication','Morphological anomaly','no definition available'),('353344','Idiopathic macular telangiectasia type 1','Disease','Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.'),('353351','Idiopathic macular telangiectasia type 3','Disease','Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.'),('353356','Vasoproliferative tumor of the retina','Disease','Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.'),('354','GM1 gangliosidosis','Disease','GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.'),('355','Gaucher disease','Disease','Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).'),('356','Gerstmann-Straussler-Scheinker syndrome','Disease','Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.'),('35612','Nanophthalmos','Malformation syndrome','A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.'),('35656','Coenzyme Q10 deficiency','Clinical group','no definition available'),('35664','ALDH18A1-related De Barsy syndrome','Etiological subtype','A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.'),('35686','Serpiginous choroiditis','Disease','no definition available'),('35687','Erdheim-Chester disease','Disease','Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.'),('35688','OBSOLETE: Madelung deformity','Morphological anomaly','no definition available'),('35689','Primary lateral sclerosis','Disease','Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.'),('356947','3q26q27 microdeletion syndrome','Malformation syndrome','3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.'),('35696','Mitochondrial disorder due to a defect in mitochondrial protein synthesis','Category','no definition available'),('356961','SLC35A2-CDG','Disease','A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).'),('356978','D,L-2-hydroxyglutaric aciduria','Disease','A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.'),('35698','Mitochondrial DNA depletion syndrome','Category','The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.'),('356996','ANK3-related intellectual disability-sleep disturbance syndrome','Disease','A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankryin-3 (ANK3 gene). Additional features observed may incude muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.'),('357','NON RARE IN EUROPE: Gilbert syndrome','Disease','no definition available'),('357001','19p13.13 microdeletion syndrome','Malformation syndrome','A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).'),('357008','Hemolytic uremic syndrome with DGKE deficiency','Disease','no definition available'),('35701','3-hydroxy-3-methylglutaryl-CoA synthase deficiency','Disease','3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.'),('357027','Hereditary retinoblastoma','Clinical subtype','no definition available'),('357034','Non-hereditary retinoblastoma','Clinical subtype','no definition available'),('35704','L-Arginine:glycine amidinotransferase deficiency','Disease','L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.'),('357043','Amyotrophic lateral sclerosis type 4','Disease','A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.'),('35705','Neurometabolic disorder due to serine deficiency','Category','Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).'),('357058','Autosomal recessive cutis laxa type 2A','Disease','A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.'),('35706','Glutaric acidemia type 3','Disease','Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.'),('357064','Autosomal recessive cutis laxa type 2B','Disease','A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.'),('357074','Autosomal recessive cutis laxa type 2, classic type','Clinical subtype','no definition available'),('35708','Aromatic L-amino acid decarboxylase deficiency','Disease','A very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.'),('35710','Glucose-galactose malabsorption','Disease','Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.'),('357107','Arterial thoracic outlet syndrome','Clinical subtype','A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.'),('357131','Venous thoracic outlet syndrome','Clinical subtype','Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.'),('357154','Oral submucous fibrosis','Disease','Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.'),('357158','Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome','Disease','Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelases, anterverted nares, abnormal dentition and capillary hemangioma.'),('357175','Short ulna-dysmorphism-hypotonia-intellectual disability syndrome','Malformation syndrome','Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.'),('357220','Primary essential cutis verticis gyrata','Disease','Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.'),('357225','Primary non-essential cutis verticis gyrata','Disease','Primary non-essential cutis verticis gyrata is a rare, genetic, dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).'),('357237','Severe combined immunodeficiency due to CARD11 deficiency','Disease','Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.'),('357329','Combined immunodeficiency due to IL21R deficiency','Disease','A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.'),('357332','Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.'),('35737','Morning glory disc anomaly','Morphological anomaly','A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.'),('357502','Idiopathic nephrotic syndrome','Clinical group','A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.'),('357506','Genetic non-syndromic renal or urinary tract malformation','Category','no definition available'),('358','Gitelman syndrome','Disease','A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.'),('35807','Malignant germ cell tumor of ovary','Category','Malignant germ cell tumor of ovary is a rare ovarian cancer (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.'),('35808','Malignant sex cord stromal tumor of ovary','Category','Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.'),('35858','Imerslund-Gräsbeck syndrome','Disease','Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.'),('35878','Hyperinsulinism-hyperammonemia syndrome','Disease','Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.'),('35889','Acute opioid poisoning','Disease','A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.'),('359','Hereditary glaucoma','Category','Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.'),('35909','Combined deficiency of factor V and factor VIII','Disease','Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.'),('35981','Polymicrogyria','Clinical group','Polymicrogyria (PMG) is a heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy'),('36','Acrocallosal syndrome','Malformation syndrome','A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.'),('360','Glioblastoma','Disease','Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).'),('361','Familial glucocorticoid deficiency','Disease','Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.'),('362','NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency','Disease','no definition available'),('36204','Intestinal lymphangiectasia','Clinical group','no definition available'),('36205','OBSOLETE: Collagenous colitis','Clinical subtype','no definition available'),('36234','Bacterial toxic-shock syndrome','Disease','Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS (see this term) or Streptococcus pyogenes in streptococcal TSS (see this term).'),('36235','Staphylococcal scarlet fever','Disease','A rare bacterial infectious disease most prominently characterized by a red, sandpaper-like rash, a strawberry-like tongue, and a flushed face with perioral pallor. Other clinical symptoms include pharyngitis, tonsillitis, fever, headaches, and swollen lymph nodes. Potential complications are sinusitis, pneumonia, rheumatic fever, glomerulonephritis, and endocarditis, among others. The disease is caused by infection with toxin producing strains of Streptococcus pyogenes and can affect people of any age, although it is most common in children.'),('36236','Staphylococcal scalded skin syndrome','Disease','A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.'),('36237','Bullous impetigo','Disease','A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.'),('36238','Staphylococcal necrotizing pneumonia','Disease','Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.'),('36258','Buerger disease','Disease','Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.'),('36273','Gastric linitis plastica','Disease','Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.'),('36297','NON RARE IN EUROPE: Anorexia nervosa','Disease','no definition available'),('363189','Congenital anomaly of the great veins','Category','no definition available'),('363203','Ring chromosome','Category','no definition available'),('363245','Genetic progeroid syndrome','Category','no definition available'),('363250','Ciliopathy','Category','no definition available'),('363266','OBSOLETE: Rare hereditary iron overload disease','Category','no definition available'),('363294','Genetic syndromic Pierre Robin syndrome','Category','no definition available'),('363300','Genetic intractable diarrhea of infancy','Category','no definition available'),('363306','Genetic intestinal disease due to fat malabsorption','Category','no definition available'),('363314','Genetic intestinal polyposis','Category','no definition available'),('363396','High myopia-sensorineural deafness syndrome','Disease','High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.'),('363400','Severe neurodegenerative syndrome with lipodystrophy','Disease','Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.'),('363409','Fetal akinesia-cerebral and retinal hemorrhage syndrome','Disease','Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.'),('363412','Hypomyelination with brain stem and spinal cord involvement and leg spasticity','Disease','Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.'),('363417','Temtamy preaxial brachydactyly syndrome','Malformation syndrome','Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.'),('363424','Multiple mitochondrial dysfunctions syndrome type 3','Disease','A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.'),('363429','Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome','Disease','A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.'),('363432','Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency','Clinical subtype','A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.'),('363444','THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome','Malformation syndrome','THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.'),('363447','Autosomal dominant childhood-onset proximal spinal muscular atrophy','Disease','A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.'),('363454','BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy','Etiological subtype','no definition available'),('363472','Tumor of testis and paratestis','Category','no definition available'),('363478','Paratesticular adenocarcinoma','Disease','A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.'),('363483','Testicular teratoma','Disease','A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.'),('363489','Sex cord-stromal tumor of testis','Disease','no definition available'),('363494','Non-seminomatous germ cell tumor of testis','Disease','Testicular non seminomatous germ cell tumor describes a group of testicular germ cell tumors (see this term) occurring in the third decade of life (mean age: 25 years) with a usually painless unilateral mass in the scrotum or in some cases with gynaecomastia and/or back and flack pain and characterized by a more aggressive clinical course than testicular seminomatous germ cell tumors (see this term) with rapid involvement of blood vessels and a poorer prognosis. Histologically, they can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.'),('363504','Germ cell tumor of testis','Category','no definition available'),('363523','Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome','Disease','Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.'),('363528','Intellectual disability-strabismus syndrome','Disease','Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.'),('363534','Mitochondrial DNA depletion syndrome, hepatocerebrorenal form','Disease','Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.'),('363540','Leukoencephalopathy with mild cerebellar ataxia and white matter edema','Disease','A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.'),('363543','Autosomal recessive limb-girdle muscular dystrophy type 2R','Disease','no definition available'),('363549','Acute encephalopathy with biphasic seizures and late reduced diffusion','Disease','A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.'),('36355','Bleeding disorder due to P2Y12 defect','Disease','P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.'),('363558','New-onset refractory status epilepticus','Disease','New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.'),('363567','Acute encephalopathy with inflammation-mediated status epilepticus','Clinical group','no definition available'),('363579','Extragonadal germ cell tumor','Category','no definition available'),('363582','Gonadal germ cell tumor','Category','no definition available'),('363611','Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome','Disease','Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).'),('363618','LMNA-related cardiocutaneous progeria syndrome','Disease','LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.'),('363623','GMPPB-related limb-girdle muscular dystrophy R19','Disease','A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.'),('363629','OBSOLETE: GMPPB-related congenital muscular dystrophy','Disease','no definition available'),('363649','Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome','Disease','Mandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.'),('363654','X-linked parkinsonism-spasticity syndrome','Disease','A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.'),('363659','20q11.2 microduplication syndrome','Malformation syndrome','20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.'),('363665','Acroosteolysis-keloid-like lesions-premature aging syndrome','Disease','A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.'),('36367','Distal monosomy 1q','Malformation syndrome','1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.'),('363677','Childhood-onset autosomal recessive myopathy with external ophthalmoplegia','Disease','A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.'),('363680','2p13.2 microdeletion syndrome','Malformation syndrome','A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.'),('363686','Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome','Disease','Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.'),('363694','Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome','Disease','Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.'),('363700','Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion','Etiological subtype','no definition available'),('363705','Craniofaciofrontodigital syndrome','Disease','Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).'),('363710','Spinocerebellar ataxia type 37','Disease','An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.'),('363717','Alexander disease type I','Clinical subtype','An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.'),('363722','Alexander disease type II','Clinical subtype','An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.'),('363727','X-linked dyserythropoietic anemia with abnormal platelets and neutropenia','Disease','X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.'),('363741','Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome','Disease','Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.'),('363746','Balint syndrome','Disease','Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.'),('36382','Familial cervical artery dissection','Disease','Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.'),('36383','COL4A1-related familial vascular leukoencephalopathy','Disease','COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.'),('36386','Hereditary sensory and autonomic neuropathy type 1','Disease','Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.'),('36387','Generalized epilepsy with febrile seizures-plus','Disease','Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).'),('36388','Paraneoplastic neurologic syndrome','Category','Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.'),('363958','17q21.31 microdeletion syndrome','Etiological subtype','no definition available'),('363965','Koolen-De Vries syndrome due to a point mutation','Etiological subtype','no definition available'),('363969','Autosomal recessive cerebral atrophy','Disease','A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.'),('36397','Adiposis dolorosa','Disease','A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity.'),('363972','Noonan syndrome-like disorder with juvenile myelomonocytic leukemia','Malformation syndrome','A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.'),('363976','Giant cell tumor of bone','Disease','A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.'),('363981','Charcot-Marie-Tooth disease type 4B3','Disease','Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).'),('363989','Familial benign flecked retina','Disease','Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.'),('363992','Ichthyosis-short stature-brachydactyly-microspherophakia syndrome','Disease','A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.'),('363999','Non-immune hydrops fetalis','Clinical subtype','Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.'),('364','Glycogen storage disease due to glucose-6-phosphatase deficiency','Disease','Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.'),('364013','Immune hydrops fetalis','Clinical subtype','Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.'),('364028','X-linked intellectual disability due to GRIA3 mutations','Disease','A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.'),('364033','Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood','Disease','A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.'),('364039','Hydroa vacciniforme-like lymphoma','Disease','A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.'),('364043','ALK-positive large B-cell lymphoma','Disease','A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.'),('364055','Severe early-childhood-onset retinal dystrophy','Disease','Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.'),('364063','Infantile epileptic-dyskinetic encephalopathy','Disease','A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.'),('36412','Hypocomplementemic urticarial vasculitis','Disease','Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.'),('36414','OBSOLETE: Brain stem tumor','Clinical group','no definition available'),('364198','Bipartite talus','Morphological anomaly','A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.'),('36426','Stevens-Johnson syndrome','Clinical subtype','A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.'),('364526','Primary bone dysplasia','Category','no definition available'),('364531','Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments','Category','no definition available'),('364536','Primary bone dysplasia with micromelia','Category','no definition available'),('364541','Otopalatodigital syndrome spectrum disorder','Clinical group','Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.'),('364559','Dysostosis','Category','no definition available'),('364568','Dysostosis with limb anomaly as a major feature','Category','no definition available'),('364571','Dysostosis with limb and face anomalies as a major feature','Category','no definition available'),('364574','Acrofacial dysostosis','Clinical group','no definition available'),('364577','Intellectual disability-brachydactyly-Pierre Robin syndrome','Malformation syndrome','Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.'),('364803','Rare bone disease related to a common gene or pathway defect','Category','no definition available'),('364817','Aggrecan-related bone disorder','Category','no definition available'),('364820','TRPV4-related bone disorder','Category','no definition available'),('365','Glycogen storage disease due to acid maltase deficiency','Disease','Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal.'),('365563','Primary short bowel syndrome','Clinical group','no definition available'),('366','Glycogen storage disease due to glycogen debranching enzyme deficiency','Disease','Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.'),('367','Glycogen storage disease due to glycogen branching enzyme deficiency','Disease','Glycogen branching enzyme (GBE) deficiency (Andersen`s disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).'),('368','Glycogen storage disease due to muscle glycogen phosphorylase deficiency','Disease','Myophosphorylase deficiency (McArdle`s disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.'),('36899','Myoclonus-dystonia syndrome','Disease','Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with `lightning-like` myoclonic jerks.'),('369','Glycogen storage disease due to liver glycogen phosphorylase deficiency','Disease','Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers` disease, GSD 6b) is a benign and rare form of glycogen storage disease.'),('36913','Autoimmune hypoparathyroidism','Disease','no definition available'),('369837','Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome','Malformation syndrome','Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.'),('369840','TRAPPC11-related limb-girdle muscular dystrophy R18','Disease','A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.'),('369847','Intellectual disability-hyperkinetic movement-truncal ataxia syndrome','Disease','A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.'),('369852','Congenital neutropenia-myelofibrosis-nephromegaly syndrome','Disease','Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).'),('369861','Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome','Disease','Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.'),('369867','Autosomal recessive intermediate Charcot-Marie-Tooth disease type C','Disease','A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.'),('369873','Obesity due to SIM1 deficiency','Etiological subtype','A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.'),('369881','2p21 microdeletion syndrome without cystinuria','Malformation syndrome','2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.'),('369886','Homozygous 2p21 microdeletion syndrome','Clinical group','no definition available'),('369891','Developmental delay-facial dysmorphism syndrome due to MED13L deficiency','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (i.e. broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and, variably, macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight), and brain morphology anomalies (such as ventriculomegaly and myelination defects).'),('369894','OBSOLETE: Early infantile epileptic encephalopathy without suppression burst','Disease','no definition available'),('369897','Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies','Disease','A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.'),('369902','OBSOLETE: DDX59-related orofaciodigital syndrome','Malformation syndrome','no definition available'),('369913','Combined oxidative phosphorylation defect type 17','Disease','Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.'),('369920','Pontocerebellar hypoplasia type 9','Malformation syndrome','Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ``figure of 8`` midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.'),('369929','Primary hyperaldosteronism-seizures-neurological abnormalities syndrome','Disease','A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).'),('369939','Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome','Malformation syndrome','A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).'),('369942','CADDS','Disease','CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).'),('369950','Intellectual disability-seizures-macrocephaly-obesity syndrome','Disease','Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.'),('369955','Methylmalonic acidemia with homocystinuria, type cblJ','Clinical subtype','no definition available'),('369962','Methylmalonic acidemia with homocystinuria, type cblX','Clinical subtype','no definition available'),('369970','Microcornea-myopic chorioretinal atrophy-telecanthus syndrome','Disease','Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.'),('369979','Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome','Malformation syndrome','Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.'),('369992','Severe dermatitis-multiple allergies-metabolic wasting syndrome','Disease','Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.'),('369999','Diffuse palmoplantar keratoderma with painful fissures','Disease','Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.'),('37','Acrodermatitis enteropathica','Disease','A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.'),('370','Glycogen storage disease due to phosphorylase kinase deficiency','Clinical group','Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).'),('370002','Focal palmoplantar keratoderma with joint keratoses','Disease','Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.'),('370006','Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome','Malformation syndrome','no definition available'),('370010','Intellectual disability-facial dysmorphism-hand anomalies syndrome','Malformation syndrome','Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.'),('370015','Spondyloepimetaphyseal dysplasia, Isidor type','Disease','Spondyloepimetaphyseal dysplasia, Isidor type is rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genum varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.'),('370019','Spondylometaphyseal dysplasia, Czarny-Ratajczak type','Disease','Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly.'),('370022','Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome','Disease','A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.'),('370026','Acute myeloid leukemia with t(8;16)(p11;p13) translocation','Disease','A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.'),('370034','Familial syringomyelia','Clinical subtype','no definition available'),('370039','Angora hair nevus','Disease','A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko`s lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.'),('370046','Didymosis aplasticosebacea','Disease','Didymosis aplasticosebacea is a rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.'),('370052','SCALP syndrome','Disease','SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemishpere enlargement.'),('370059','NEVADA syndrome','Disease','NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.'),('370068','Fetal anticonvulsant syndrome','Clinical group','no definition available'),('370076','Fetal carbamazepine syndrome','Malformation syndrome','Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.'),('370079','Proximal 16p11.2 microduplication syndrome','Malformation syndrome','Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.'),('370088','Acute infantile liver failure-multisystemic involvement syndrome','Disease','A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.'),('370091','Oculocutaneous albinism type 5','Disease','Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.'),('370097','Oculocutaneous albinism type 6','Disease','Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1).'),('370103','Primary dystonia, DYT17 type','Disease','Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.'),('370106','Rare disorder with dystonia and other neurologic or systemic manifestation','Category','no definition available'),('370109','Ataxia-telangiectasia variant','Disease','A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.'),('370114','Combined cervical dystonia','Disease','no definition available'),('370127','Medich giant platelet syndrome','Disease','Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.'),('370131','White platelet syndrome','Disease','White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.'),('370334','Extraskeletal Ewing sarcoma','Disease','Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.'),('370348','Peripheral primitive neuroectodermal tumor','Disease','A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.'),('370396','Small cell carcinoma of the ovary','Disease','Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.'),('37042','Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome','Disease','A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.'),('370921','STT3A-CDG','Disease','STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).'),('370924','STT3B-CDG','Disease','STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).'),('370927','SSR4-CDG','Disease','SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).'),('370930','XYLT1-CDG','Disease','XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.'),('370933','GM3 synthase deficiency','Clinical group','GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.'),('370938','Salt-and-pepper syndrome','Disease','A rare, genetic, congenital disorder of glycosylation with neurological involvement disorder characterized by the association of severe intellectual disability with altered dermal pigmentation (scattered hyper-and hypo-pigmented macules ranging from 1 to 5 mm on the face, trunk and extremities). Additional variable manifestations include scoliosis, choreoathetosis, seizures, spasticity and nonspecific abnormal electrocardiogram. Reported facial dysmorphism includes microcephaly, midface hypoplasia, and prominent lower face. Radiographic examination shows decreased bone mineralization.'),('370943','Autism spectrum disorder-epilepsy-arthrogryposis syndrome','Disease','SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).'),('370953','Congenital muscular dystrophy due to dystroglycanopathy','Category','no definition available'),('370959','Congenital muscular dystrophy with cerebellar involvement','Disease','Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.'),('370968','Congenital muscular dystrophy with intellectual disability','Disease','Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.'),('370980','Congenital muscular dystrophy without intellectual disability','Disease','Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.'),('370997','Muscle-eye-brain disease with bilateral multicystic leucodystrophy','Disease','A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.'),('371','Glycogen storage disease due to muscle phosphofructokinase deficiency','Disease','Muscle phosphofructokinase (PFK) deficiency (Tarui`s disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.'),('371007','Congenital muscular dystrophy with hyperlaxity','Disease','Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.'),('371024','Qualitative or quantitative defects of alpha-dystroglycan','Category','no definition available'),('371040','Primary qualitative or quantitative defects of alpha-dystroglycan','Category','no definition available'),('371047','Congenital disorder of glycosylation with neurological involvement','Category','no definition available'),('371054','X-linked congenital disorder of glycosylation with intellectual disability as a major feature','Category','no definition available'),('371064','Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature','Category','no definition available'),('371071','Congenital disorder of glycosylation with epilepsy as a major feature','Category','no definition available'),('371157','Congenital disorder of glycosylation with hepatic involvement','Category','no definition available'),('371176','Congenital disorder of glycosylation with dilated cardiomyopathy','Category','no definition available'),('371183','Congenital disorder of glycosylation with cardiac malformation as a major feature','Category','no definition available'),('371188','Congenital disorder of glycosylation with intestinal involvement','Category','no definition available'),('371195','Congenital disorder of glycosylation-related bone disorder','Category','no definition available'),('371200','Congenital disorder of glycosylation with skin involvement','Category','no definition available'),('371207','Congenital disorder of glycosylation with nephropathy as a major feature','Category','no definition available'),('371212','Congenital disorder of glycosylation with deafness as a major feature','Category','no definition available'),('371235','Congenital disorder of glycosylation with developmental anomaly','Category','no definition available'),('371364','Hypotonia-speech impairment-severe cognitive delay syndrome','Disease','Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).'),('371428','Multicentric osteolysis-nodulosis-arthropathy spectrum','Disease','A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.'),('371433','Genetic periodic paralysis','Category','no definition available'),('371436','Genetic neurovascular malformation','Category','no definition available'),('371439','OBSOLETE: Genetic cerebrovascular dementia','Category','no definition available'),('371442','Sphingolipidosis with epilepsy','Category','no definition available'),('371445','Genetic syndromic esophageal malformation','Category','no definition available'),('371861','Genetic hyperaldosteronism','Category','no definition available'),('37202','Interstitial cystitis','Disease','Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.'),('373','Simpson-Golabi-Behmel syndrome','Malformation syndrome','Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.'),('374','Goldenhar syndrome','Malformation syndrome','no definition available'),('375','Anti-glomerular basement membrane disease','Disease','A rapidly progressive and generally fulminant rare autoimmune condition characterized by the presence of anti-GBM antibodies, affecting glomerular and/or pulmonary capillaries. It may manifest as an isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage (Goodpasture`s syndrome).'),('37553','Andersen-Tawil syndrome','Disease','A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.'),('37559','Acquired kinky hair syndrome','Disease','A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.'),('376','Gordon syndrome','Malformation syndrome','Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.'),('37612','Episodic ataxia type 1','Disease','Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.'),('37629','Neonatal neutropenia','Disease','no definition available'),('376724','Generalized isolated dystonia','Category','no definition available'),('377','Gorlin syndrome','Malformation syndrome','A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.'),('37748','Schnitzler syndrome','Malformation syndrome','Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.'),('378','NON RARE IN EUROPE: Sjögren syndrome','Disease','no definition available'),('379','Chronic granulomatous disease','Disease','Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.'),('38','Acrokeratoelastoidosis of Costa','Disease','A rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later'),('380','Greig cephalopolysyndactyly syndrome','Malformation syndrome','A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.'),('381','Griscelli syndrome','Disease','Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).'),('382','Guanidinoacetate methyltransferase deficiency','Disease','Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.'),('383','X-linked mixed deafness with perilymphatic gusher','Clinical subtype','no definition available'),('384','Huriez syndrome','Disease','no definition available'),('385','Neurodegeneration with brain iron accumulation','Clinical group','Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.'),('386','Hepatic cystic hamartoma','Disease','Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).'),('387','NON RARE IN EUROPE: Hidradenitis suppurativa','Disease','no definition available'),('388','Hirschsprung disease','Disease','Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.'),('38874','Dihydropyrimidinuria','Disease','Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.'),('389','Langerhans cell histiocytosis','Disease','Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.'),('39','Acromelanosis','Disease','A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.'),('390','Histoplasmosis','Disease','A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others.'),('39041','Omenn syndrome','Disease','Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).'),('39044','Uveal melanoma','Disease','Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.'),('391','Classic Hodgkin lymphoma','Disease','Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.'),('391307','Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome','Malformation syndrome','Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.'),('391311','Susceptibility to viral and mycobacterial infections due to STAT1 deficiency','Disease','Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.'),('391316','Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression','Disease','Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.'),('391320','East Texas bleeding disorder','Disease','East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.'),('391327','X-linked calvarial hyperostosis','Disease','X-linked calvarial hyperostosis is a rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.'),('391330','X-linked osteoporosis with fractures','Disease','X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.'),('391343','Fatal post-viral neurodegenerative disorder','Disease','Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.'),('391348','Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome','Disease','Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.'),('391351','SURF1-related Charcot-Marie-Tooth disease type 4','Disease','A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).'),('391366','Growth retardation-mild developmental delay-chronic hepatitis syndrome','Disease','Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.'),('391372','Intellectual disability-severe speech delay-mild dysmorphism syndrome','Malformation syndrome','Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.'),('391376','Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome','Disease','Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.'),('391381','Disorder of asparagine metabolism','Category','no definition available'),('391384','Familial episodic pain syndrome','Disease','Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.'),('391389','Familial episodic pain syndrome with predominantly upper body involvement','Clinical subtype','Familial episodic pain syndrome with predominantly upper body involvement is a subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.'),('391392','Familial episodic pain syndrome with predominantly lower limb involvement','Clinical subtype','Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.'),('391397','Hereditary sensory and autonomic neuropathy type 7','Disease','A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.'),('391408','Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome','Disease','Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.'),('391411','Atypical juvenile parkinsonism','Disease','A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.'),('391417','HSD10 disease','Disease','HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.'),('391428','HSD10 disease, infantile type','Clinical subtype','HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.'),('391457','HSD10 disease, neonatal type','Clinical subtype','HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.'),('391474','Frontorhiny','Malformation syndrome','Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.'),('391479','OBSOLETE: Syndromic frontonasal dysplasia','Clinical group','no definition available'),('391487','Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome','Disease','An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.'),('391490','Adult-onset myasthenia gravis','Clinical subtype','A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.'),('391497','Juvenile myasthenia gravis','Clinical subtype','Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.'),('391504','Transient neonatal myasthenia gravis','Clinical subtype','Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.'),('391641','Feingold syndrome type 1','Clinical subtype','Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.'),('391646','Feingold syndrome type 2','Clinical subtype','Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.'),('391651','Glomus tumor','Disease','A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.'),('391655','Off-periods in Parkinson disease not responding to oral treatment','Particular clinical situation in a disease or syndrome','no definition available'),('391658','OBSOLETE: Cowpox infection','Disease','no definition available'),('391665','Homozygous familial hypercholesterolemia','Disease','A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction.'),('391673','Necrotizing enterocolitis','Disease','no definition available'),('391677','Short stature-optic atrophy-Pelger-Huët anomaly syndrome','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.'),('391711','Persistent combined dystonia','Clinical group','no definition available'),('391723','Mucinous adenocarcinoma of the appendix','Disease','Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.'),('391799','Rare genetic dystonia','Category','no definition available'),('392','Holt-Oram syndrome','Malformation syndrome','A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.'),('393','46,XX testicular disorder of sex development','Malformation syndrome','A rare disorder of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.'),('394','Classic homocystinuria','Disease','Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.'),('394529','Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type','Clinical subtype','no definition available'),('394532','Multiple acyl-CoA dehydrogenase deficiency, mild type','Clinical subtype','no definition available'),('395','Homocystinuria due to methylene tetrahydrofolate reductase deficiency','Disease','Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.'),('396','Chronic hiccup','Disease','Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.'),('397','Giant cell arteritis','Disease','Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.'),('397587','Deep dermatophytosis','Disease','A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients.'),('397590','Silver-Russell syndrome due to a point mutation','Etiological subtype','no definition available'),('397593','Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency','Disease','Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.'),('397596','Activated PI3K-delta syndrome','Disease','A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.'),('397606','PrP systemic amyloidosis','Disease','Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.'),('397612','Macrocephaly-developmental delay syndrome','Malformation syndrome','Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.'),('397615','Obesity due to CEP19 deficiency','Etiological subtype','A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.'),('397618','Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome','Disease','Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.'),('397623','Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome','Malformation syndrome','Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.'),('397685','Familial hyperprolactinemia','Disease','Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.'),('397692','Hereditary isolated aplastic anemia','Disease','Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.'),('397695','3q27.3 microdeletion syndrome','Disease','3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.'),('397709','Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome','Malformation syndrome','Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.'),('397715','Joubert syndrome with Jeune asphyxiating thoracic dystrophy','Malformation syndrome','A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.'),('397725','COASY protein-associated neurodegeneration','Disease','COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.'),('397735','Autosomal dominant Charcot-Marie-Tooth disease type 2U','Disease','A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.'),('397744','Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome','Disease','Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.'),('397750','Periodic paralysis with later-onset distal motor neuropathy','Disease','Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.'),('397755','Periodic paralysis with transient compartment-like syndrome','Disease','Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.'),('397758','Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies','Disease','Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.'),('397787','Severe combined immunodeficiency due to IKK2 deficiency','Disease','Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.'),('397802','T+ B+ severe combined immunodeficiency','Clinical group','no definition available'),('397922','Ferro-cerebro-cutaneous syndrome','Disease','Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, wiedely spaced and pointed teeth with delayed eruption, and gingival overgrowth.'),('397927','Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome','Malformation syndrome','Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.'),('397933','Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome','Disease','Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.'),('397937','Polyglucosan body myopathy type 1','Disease','Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.'),('397941','MAN1B1-CDG','Disease','MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).'),('397946','Autosomal spastic paraplegia type 58','Disease','A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.'),('397951','Microcephaly-thin corpus callosum-intellectual disability syndrome','Disease','A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.'),('397959','TCR-alpha-beta-positive T-cell deficiency','Disease','TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.'),('397964','Combined immunodeficiency due to MALT1 deficiency','Disease','Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.'),('397968','Charcot-Marie-Tooth disease type 2R','Disease','Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.'),('397973','Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome','Disease','Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.'),('398043','Malignant tumor of penis','Category','no definition available'),('398053','Adenocarcinoma of the penis','Disease','An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.'),('398058','Squamous cell carcinoma of the penis','Disease','no definition available'),('398063','Refractory celiac disease','Disease','Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.'),('398069','MAGEL2-related Prader-Willi-like syndrome','Disease','no definition available'),('398073','Prader-Willi-like syndrome','Clinical group','Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.'),('398079','SIM1-related Prader-Willi-like syndrome','Disease','no definition available'),('398088','Hereditary cryohydrocytosis with normal stomatin','Disease','Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.'),('398091','Secondary neonatal autoimmune disease','Category','no definition available'),('398097','Neonatal antiphospholipid syndrome','Disease','Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).'),('398109','Neonatal autoimmune hemolytic anemia','Disease','Neonatal autoimmune hemolytic anemia is a very rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.'),('398117','Neonatal dermatomyositis','Disease','Neonatal dermatomyositis is a very rare, secondary, neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.'),('39812','Graft versus host disease','Disease','A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.'),('398124','Neonatal lupus erythematosus','Disease','A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.'),('398127','Neonatal scleroderma','Disease','Neonatal scleroderma is a very rare, secondary, neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.'),('398147','Persistent idiopathic facial pain','Disease','A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.'),('398156','Oculoauriculofrontonasal syndrome','Malformation syndrome','Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.'),('398166','Focal facial dermal dysplasia','Malformation syndrome','Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.'),('398173','Focal facial dermal dysplasia type II','Clinical subtype','Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.'),('398189','Focal facial dermal dysplasia type IV','Clinical subtype','Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.'),('398934','Malignant epithelial tumor of ovary','Category','no definition available'),('398940','Malignant non-epithelial tumor of ovary','Category','no definition available'),('398961','Mucinous adenocarcinoma of ovary','Disease','Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.'),('398971','Clear cell adenocarcinoma of the ovary','Disease','Clear cell adenocarcinoma of ovary is a rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.'),('398980','Primary peritoneal serous/papillary carcinoma','Disease','no definition available'),('398987','Malignant teratoma of ovary','Disease','no definition available'),('399','Huntington disease','Disease','Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.'),('399058','Alpha-B crystallin-related late-onset myopathy','Disease','A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopthay changes.'),('399081','KLHL9-related early-onset distal myopathy','Disease','KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.'),('399086','Finnish upper limb-onset distal myopathy','Disease','Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.'),('399096','Distal anoctaminopathy','Disease','Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.'),('399103','Distal nebulin myopathy','Disease','Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.'),('399158','Osteonecrosis','Category','no definition available'),('399164','Avascular necrosis','Category','no definition available'),('399169','Secondary avascular necrosis','Category','no definition available'),('399175','Traumatic avascular necrosis','Disease','no definition available'),('399180','Secondary non-traumatic avascular necrosis','Disease','A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.'),('399185','Rare hereditary disease with avascular necrosis','Category','no definition available'),('399293','Osteonecrosis of the jaw','Disease','no definition available'),('399302','Primary avascular necrosis','Clinical group','no definition available'),('399307','Idiopathic avascular necrosis','Disease','no definition available'),('399319','Osteochondrosis','Category','no definition available'),('399329','Epiphysiolysis of the hip','Disease','Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).'),('399380','Osteonecrosis of genetic origin','Category','no definition available'),('399388','Avascular necrosis of genetic origin','Category','no definition available'),('399391','Osteochondrosis of genetic origin','Category','no definition available'),('399572','Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder','Category','no definition available'),('399584','Rare male infertility due to adrenal disorder','Category','no definition available'),('399685','Rare male infertility due to testicular endocrine disorder','Category','no definition available'),('399764','Male infertility due to gonadal dysgenesis or sperm disorder','Category','no definition available'),('399771','Male infertility due to sperm disorder','Category','no definition available'),('399775','Male infertility with spermatogenesis disorder','Category','no definition available'),('399786','Male infertility with spermatogenesis disorder due to single gene mutation','Category','no definition available'),('399805','Male infertility with azoospermia or oligozoospermia due to single gene mutation','Disease','Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.'),('399808','Male infertility with teratozoospermia due to single gene mutation','Disease','Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.'),('399813','Male infertility due to sperm motility disorder','Category','no definition available'),('399824','Rare disorder with obstructive azoospermia','Category','no definition available'),('399831','Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder','Category','no definition available'),('399839','Rare female infertility due to a congenital hypogonadotropic hypogonadism','Category','no definition available'),('399846','Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism','Category','no definition available'),('399849','Rare female infertility due to an adrenal disorder','Category','no definition available'),('399853','Rare female infertility due to an anomaly of ovarian function','Category','no definition available'),('399877','Rare female infertility due to gonadal dysgenesis','Category','no definition available'),('399882','Rare female infertility due to an implantation defect','Category','no definition available'),('399980','Rare genetic male infertility','Category','no definition available'),('399983','Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin','Category','no definition available'),('399994','Rare male infertility due to adrenal disorder of genetic origin','Category','no definition available'),('399998','Male infertility due to obstructive azoospermia of genetic origin','Category','no definition available'),('40','Acromesomelic dysplasia, Maroteaux type','Malformation syndrome','A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .'),('400','Cystic echinococcosis','Disease','Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.'),('400003','Rare genetic disorder with obstructive azoospermia','Category','no definition available'),('400008','Rare genetic female infertility','Category','no definition available'),('400011','Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin','Category','no definition available'),('400018','Rare female infertility due to adrenal disorder of genetic origin','Category','no definition available'),('400022','Rare female infertility due to an anomaly of ovarian function of genetic origin','Category','no definition available'),('400025','Female infertility due to an implantation defect of genetic origin','Category','no definition available'),('40050','NON RARE IN EUROPE: Psoriatic arthritis','Disease','no definition available'),('401','Hymenolepiasis','Disease','Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.'),('401764','Pancytopenia-developmental delay syndrome','Disease','Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.'),('401768','Proximal myopathy with extrapyramidal signs','Disease','Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.'),('401777','Optic atrophy-intellectual disability syndrome','Disease','Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.'),('401780','Autosomal recessive spastic paraplegia type 61','Disease','Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.'),('401785','Autosomal recessive spastic paraplegia type 62','Disease','A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.'),('401795','Autosomal recessive spastic paraplegia type 59','Disease','Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.'),('401800','Autosomal recessive spastic paraplegia type 60','Disease','Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.'),('401805','Autosomal recessive spastic paraplegia type 63','Disease','Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.'),('401810','Autosomal recessive spastic paraplegia type 64','Disease','Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.'),('401815','Autosomal recessive spastic paraplegia type 66','Disease','Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.'),('401820','Autosomal recessive spastic paraplegia type 67','Disease','Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.'),('401825','Autosomal recessive spastic paraplegia type 68','Disease','no definition available'),('401830','Autosomal recessive spastic paraplegia type 69','Disease','Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.'),('401835','Autosomal recessive spastic paraplegia type 70','Disease','Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.'),('401840','Autosomal recessive spastic paraplegia type 71','Disease','Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.'),('401849','Autosomal spastic paraplegia type 72','Disease','Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.'),('401854','Lipoic acid biosynthesis defect','Category','no definition available'),('401859','Lipoic acid synthetase deficiency','Disease','Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.'),('401862','Lipoyl transferase 1 deficiency','Disease','Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.'),('401866','Childhood-onset spasticity with hyperglycinemia','Disease','Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.'),('401869','Multiple mitochondrial dysfunctions syndrome type 1','Disease','no definition available'),('401874','Multiple mitochondrial dysfunctions syndrome type 2','Disease','no definition available'),('401901','Huntington disease-like syndrome due to C9ORF72 expansions','Disease','Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.'),('401911','AXIN2-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('401920','Fibrolamellar hepatocellular carcinoma','Disease','A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.'),('401923','9q31.1q31.3 microdeletion syndrome','Malformation syndrome','9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.'),('401935','14q24.1q24.3 microdeletion syndrome','Malformation syndrome','14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.'),('401942','Familial median cleft of the upper and lower lips','Malformation syndrome','Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.'),('401945','Moyamoya disease with early-onset achalasia','Disease','Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.'),('401948','Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency','Disease','A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.'),('401953','Episodic ataxia with slurred speech','Disease','Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.'),('401959','Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome','Malformation syndrome','Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.'),('401964','Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons','Disease','A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.'),('401973','MEND syndrome','Malformation syndrome','MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.'),('401979','Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type','Malformation syndrome','Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.'),('401986','1p31p32 microdeletion syndrome','Malformation syndrome','1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.'),('401993','Cold-induced sweating syndrome-hyperthermia spectrum','Clinical group','no definition available'),('401996','Karyomegalic interstitial nephritis','Disease','Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.'),('402003','Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering','Disease','A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.'),('402007','Lichen myxedematosus','Clinical group','no definition available'),('402014','Acute myeloid leukemia with t(6;9)(p23;q34)','Disease','A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.'),('402017','Acute myeloid leukemia with t(9;11)(p22;q23)','Disease','A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.'),('402020','Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)','Disease','A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.'),('402023','Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)','Disease','Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.'),('402026','Acute myeloid leukemia with NPM1 somatic mutations','Disease','A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.'),('402029','Primary eosinophilic gastrointestinal disease','Clinical group','no definition available'),('402035','Eosinophilic colitis','Disease','no definition available'),('402041','Autosomal recessive distal renal tubular acidosis','Clinical subtype','An inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.'),('402075','Familial bicuspid aortic valve','Morphological anomaly','Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).'),('402082','Progressive myoclonic epilepsy type 5','Disease','A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.'),('402364','Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly','Malformation syndrome','Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.'),('402823','Hepatitis delta','Disease','Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.'),('403','Familial hyperaldosteronism type I','Disease','Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.'),('40366','Acitretin/etretinate embryopathy','Malformation syndrome','A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.'),('404','Familial hyperaldosteronism type II','Disease','Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.'),('404437','Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome','Malformation syndrome','Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.'),('404440','Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency','Malformation syndrome','Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.'),('404443','Tall stature-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.'),('404448','ADNP syndrome','Malformation syndrome','A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.'),('404451','FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome','Malformation syndrome','FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.'),('404454','Alacrimia-choreoathetosis-liver dysfunction syndrome','Disease','A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.'),('404463','Multisystemic smooth muscle dysfunction syndrome','Disease','Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.'),('404466','Female infertility due to zona pellucida defect','Disease','Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.'),('404469','Rare female infertility due to oocyte maturation defect','Category','no definition available'),('404473','Severe intellectual disability-progressive spastic diplegia syndrome','Malformation syndrome','Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.'),('404476','Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome','Malformation syndrome','Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.'),('404481','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome','Clinical group','no definition available'),('404493','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency','Disease','A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.'),('404499','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency','Disease','An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.'),('404507','Chondromyxoid fibroma','Disease','A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.'),('404511','Clear cell papillary renal cell carcinoma','Histopathological subtype','Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.'),('404514','Acquired cystic disease-associated renal cell carcinoma','Disease','A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.'),('404521','Spinal muscular atrophy with respiratory distress type 2','Disease','Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.'),('404538','X-linked distal hereditary motor neuropathy','Category','no definition available'),('404546','DITRA','Disease','A rare, genetic, autoimflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.'),('404553','Vasculitis due to ADA2 deficiency','Disease','Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.'),('404560','Familial atypical multiple mole melanoma syndrome','Disease','Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.'),('404568','Dysostosis of genetic origin','Category','no definition available'),('404571','Dysostosis of genetic origin with limb anomaly as a major feature','Category','no definition available'),('404574','Genetic syndrome with limb reduction defects','Category','no definition available'),('404577','Genetic syndrome with limb malformations as a major feature','Category','no definition available'),('404580','Polyarticular juvenile idiopathic arthritis','Clinical group','no definition available'),('404584','Rare genetic bone development disorder','Category','no definition available'),('405','Familial hypocalciuric hypercalcemia','Disease','Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.'),('406','NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia','Disease','no definition available'),('407','Glycine encephalopathy','Disease','Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.'),('408','Isolated glycerol kinase deficiency','Disease','Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).'),('409','Hyperkeratosis lenticularis perstans','Disease','no definition available'),('40923','Eales disease','Disease','A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.'),('41','Dyschromatosis symmetrica hereditaria','Disease','A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.'),('411','Hyperlipoproteinemia type 1','Disease','no definition available'),('411493','Pontocerebellar hypoplasia type 10','Malformation syndrome','Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.'),('411501','Williams-Campbell syndrome','Morphological anomaly','A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.'),('411511','Angelman syndrome due to a point mutation','Etiological subtype','no definition available'),('411515','Angelman syndrome due to imprinting defect in 15q11-q13','Etiological subtype','no definition available'),('411527','Central retinal vein occlusion','Particular clinical situation in a disease or syndrome','A rare retinal vasculopathy characterized by impaired venous return from the retinal circulation due to an occlusion occurring within or posterior to the optic nerve head. The clinical presentation is variable and may range from asymptomatic to an abrupt and profound loss of vision. Complications causing visual loss include macular edema, macular ischemia, optic neuropathy, vitreous hemorrhage, tractional retinal detachment, and in more severe cases extensive capillary non-perfusion with a high risk of neovascular glaucoma.'),('411533','NON RARE IN EUROPE: Melanoma','Disease','no definition available'),('411536','Mild phosphoribosylpyrophosphate synthetase superactivity','Clinical subtype','A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.'),('411543','Severe phosphoribosylpyrophosphate synthetase superactivity','Clinical subtype','A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.'),('411590','Wolfram-like syndrome','Disease','Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.'),('411593','Insulin autoimmune syndrome','Disease','no definition available'),('411602','Hereditary late-onset Parkinson disease','Disease','Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).'),('411629','Nephropathic infantile cystinosis','Clinical subtype','Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.'),('411634','Juvenile nephropathic cystinosis','Clinical subtype','Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.'),('411641','Ocular cystinosis','Clinical subtype','Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.'),('411696','Proton-pump inhibitor-responsive esophageal eosinophilia','Disease','Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.'),('411703','Pulmonary non-tuberculous mycobacterial infection','Disease','A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.'),('411709','Renal agenesis','Morphological anomaly','Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).'),('411712','Maternal riboflavin deficiency','Disease','Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.'),('411777','Generalized eruptive keratoacanthoma','Disease','Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.'),('411788','Familial isolated trichomegaly','Disease','Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.'),('411969','NON RARE IN EUROPE: Metabolic syndrome','Clinical syndrome','no definition available'),('411986','Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.'),('412','Dysbetalipoproteinemia','Disease','A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.'),('412022','Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome','Malformation syndrome','Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.'),('412035','13q12.3 microdeletion syndrome','Malformation syndrome','13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.'),('412057','Autosomal recessive cerebellar ataxia due to STUB1 deficiency','Disease','A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.'),('412066','PRKAR1B-related neurodegenerative dementia with intermediate filaments','Disease','PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.'),('412069','AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome','Malformation syndrome','A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.'),('412181','Epidermolysis bullosa simplex due to BP230 deficiency','Disease','Epidermolysis bullosa simplex due to BP230 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big.'),('412189','Epidermolysis bullosa simplex due to exophilin 5 deficiency','Disease','Epidermolysis bullosa simplex due to exophilin 5 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.'),('412206','Primary failure of tooth eruption','Disease','no definition available'),('412217','Dystonia-aphonia syndrome','Disease','Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.'),('412220','OBSOLETE: Ramsay Hunt syndrome type II','Disease','no definition available'),('413','NON RARE IN EUROPE: Hyperlipoproteinemia type 4','Disease','no definition available'),('414','Gyrate atrophy of choroid and retina','Disease','Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.'),('414726','Genetic facial cleft','Category','no definition available'),('415','Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome','Disease','A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.'),('415268','NON RARE IN EUROPE: Adenocarcinoma of the lung','Disease','no definition available'),('415286','Bilirubin encephalopathy','Clinical group','no definition available'),('415300','NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy','Disease','no definition available'),('415675','OBSOLETE: Small pox','Disease','no definition available'),('415687','NON RARE IN EUROPE: Sudden infant death syndrome','Disease','no definition available'),('416','Primary hyperoxaluria','Disease','A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.'),('417','Neonatal severe primary hyperparathyroidism','Disease','Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.'),('41751','Bietti crystalline dystrophy','Disease','Bietti`s crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.'),('418','Congenital adrenal hyperplasia','Clinical group','Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.'),('41842','NON RARE IN EUROPE: Fibromyalgia','Disease','no definition available'),('418945','Carcinoma of esophagus, salivary gland type','Disease','A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct‐lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.'),('418951','Undifferentiated carcinoma of esophagus','Disease','A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.'),('418959','Squamous cell carcinoma of the stomach','Disease','Squamous cell carcinoma of stomach is a rare epithelial tumour of stomach, defined histropathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.'),('419','Hyperprolinemia type 1','Disease','Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).'),('42','Medium chain acyl-CoA dehydrogenase deficiency','Disease','Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.'),('420179','Malan overgrowth syndrome','Malformation syndrome','Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.'),('420259','Secondary pulmonary alveolar proteinosis','Disease','A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.'),('420402','Semicircular canal dehiscence syndrome','Clinical syndrome','Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.'),('420429','Glycogen storage disease due to acid maltase deficiency, late-onset','Clinical subtype','Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.'),('420485','Cranio-cervical dystonia with laryngeal and upper-limb involvement','Disease','Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.'),('420492','Adult-onset cervical dystonia, DYT23 type','Disease','A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.'),('420556','Visual snow syndrome','Disease','Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.'),('420561','Temple-Baraitser syndrome','Disease','Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.'),('420566','Bleeding disorder due to CalDAG-GEFI deficiency','Disease','Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.'),('420573','Severe combined immunodeficiency due to CTPS1 deficiency','Disease','Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella)), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.'),('420584','Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome','Malformation syndrome','Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.'),('420611','Transient myeloproliferative syndrome','Disease','no definition available'),('42062','Iminoglycinuria','Disease','A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.'),('420686','Woolly hair-palmoplantar keratoderma syndrome','Disease','Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.'),('420699','Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency','Disease','Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.'),('420702','Autosomal recessive severe congenital neutropenia due to CSF3R deficiency','Disease','Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.'),('420728','Combined oxidative phosphorylation defect type 20','Disease','Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).'),('420733','Combined oxidative phosphorylation defect type 21','Disease','Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.'),('420741','RIDDLE syndrome','Malformation syndrome','A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).'),('420755','Rare genetic odontal or periodontal disorder','Category','no definition available'),('420789','Autoimmune encephalopathy with parasomnia and obstructive sleep apnea','Disease','A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.'),('420794','Cono-spondylar dysplasia','Malformation syndrome','Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.'),('422','Idiopathic/heritable pulmonary arterial hypertension','Disease','Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown .'),('422519','OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency','Clinical group','no definition available'),('422526','Hereditary clear cell renal cell carcinoma','Disease','Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.'),('423','Malignant hyperthermia of anesthesia','Disease','Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.'),('423275','Spinocerebellar ataxia type 40','Disease','Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.'),('423296','Spinocerebellar ataxia type 38','Disease','Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.'),('423306','Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.'),('423384','Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency','Disease','Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coractation of aorta, as well as bone and urogenital abnormalities, may also be associated.'),('423454','Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome','Disease','Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.'),('423461','Mucolipidosis type III alpha/beta','Clinical subtype','Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.'),('423470','Mucolipidosis type III gamma','Clinical subtype','Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.'),('423479','X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome','Disease','X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.'),('423655','ARX-related encephalopathy-brain malformation spectrum','Clinical group','no definition available'),('423662','Rare autonomic nervous system disorder','Category','no definition available'),('423668','NON RARE IN EUROPE: Cortisol-producing adrenal tumor','Disease','no definition available'),('423693','Double outlet right ventricle with subaortic or doubly committed ventricular septal defect','Clinical subtype','no definition available'),('423712','Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy','Clinical subtype','no definition available'),('423717','Cutaneous larva migrans','Disease','Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.'),('423771','Rare carcinoma of stomach','Category','no definition available'),('423776','Hereditary gastric cancer','Category','Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).'),('423781','OBSOLETE: Carcinoma of stomach, salivary gland type','Disease','no definition available'),('423786','Undifferentiated carcinoma of stomach','Disease','Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.'),('423793','Rare tumor of small intestine','Category','no definition available'),('423798','Mesenchymal tumor of small intestine','Category','no definition available'),('423894','Microcephaly-complex motor and sensory axonal neuropathy syndrome','Disease','Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.'),('423957','Rare carcinoma of small intestine','Category','no definition available'),('423968','Squamous cell carcinoma of the small intestine','Disease','Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.'),('423975','Neuroendocrine tumor of the small intestine','Category','no definition available'),('423982','Epithelial tumor of the appendix','Category','no definition available'),('423991','Rare epithelial tumor of colon','Category','no definition available'),('423994','Squamous cell carcinoma of the colon','Disease','Squamous cell carcinoma (SCC) of colon is a rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal SCC. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.'),('423998','Rare epithelial tumor of rectum','Category','no definition available'),('424','Familial hyperthyroidism due to mutations in TSH receptor','Disease','A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.'),('424002','Squamous cell carcinoma of the rectum','Disease','Squamous cell carcinoma (SCC) of rectum is a rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.'),('424010','Epithelial tumor of anal canal','Category','no definition available'),('424013','Carcinoma of the anal canal','Clinical group','no definition available'),('424016','Adenocarcinoma of the anal canal','Disease','A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.'),('424019','Squamous cell carcinoma of the anal canal','Disease','Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn`s disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.'),('424027','Progressive myoclonic epilepsy type 8','Disease','A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.'),('424033','Rare epithelial tumor of pancreas','Category','no definition available'),('424039','Squamous cell carcinoma of pancreas','Disease','Squamous cell carcinoma of the pancreas is a rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.'),('424046','Acinar cell carcinoma of pancreas','Disease','A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.'),('424053','Mucinous cystadenocarcinoma of the pancreas','Disease','A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.'),('424058','Intraductal papillary mucinous carcinoma of pancreas','Disease','Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.'),('424065','Solid pseudopapillary carcinoma of pancreas','Disease','Solid pseudopapillary carcinoma of the pancreas is a rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.'),('424073','Serous cystadenocarcinoma of pancreas','Disease','A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.'),('424080','Osteoclastic giant cell tumor of pancreas','Disease','no definition available'),('424099','Colobomatous microphthalmia-rhizomelic dysplasia syndrome','Malformation syndrome','Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.'),('424107','Congenital myopathy with myasthenic-like onset','Disease','Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.'),('424261','TOR1AIP1-related limb-girdle muscular dystrophy','Disease','A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.'),('424925','Qualitative or quantitative defects of Torsin-1A-interacting protein 1','Category','no definition available'),('424933','Rare malignant epithelial tumor of liver and intrahepatic biliary tract','Category','no definition available'),('424936','Carcinoma of liver and intrahepatic biliary tract','Category','no definition available'),('424943','Adenocarcinoma of the liver and intrahepatic biliary tract','Disease','A very rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.'),('424970','Undifferentiated carcinoma of liver and intrahepatic biliary tract','Disease','Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.'),('424975','Squamous cell carcinoma of liver and intrahepatic biliary tract','Disease','Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.'),('424982','Biliary cystadenocarcinoma','Disease','no definition available'),('424991','Adenocarcinoma of the gallbladder and extrahepatic biliary tract','Disease','A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.'),('424996','Squamous cell carcinoma of gallbladder and extrahepatic biliary tract','Disease','Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.'),('425','Apolipoprotein A-I deficiency','Disease','A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).'),('425003','Inherited digestive cancer-predisposing syndrome','Category','no definition available'),('425120','STING-associated vasculopathy with onset in infancy','Disease','STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.'),('425368','Rare epithelial tumor of small intestine','Category','no definition available'),('426','NON RARE IN EUROPE: Familial hypobetalipoproteinemia','Disease','no definition available'),('42642','PFAPA syndrome','Disease','PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.'),('42665','Tietz syndrome','Malformation syndrome','Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.'),('427','Familial hypoaldosteronism','Disease','A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.'),('42738','Severe congenital neutropenia','Clinical group','Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit.'),('42775','PHACE syndrome','Malformation syndrome','PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.'),('428','Autosomal dominant hypocalcemia','Clinical subtype','A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.'),('429','Hypochondroplasia','Disease','Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.'),('43','X-linked adrenoleukodystrophy','Disease','X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.'),('430','OBSOLETE: Hypodermyiasis','Disease','no definition available'),('431','Ichthyosis-male hypogonadism syndrome','Disease','no definition available'),('431140','X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome','Malformation syndrome','X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.'),('431149','Combined immunodeficiency due to OX40 deficiency','Disease','Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.'),('43115','Hereditary myopathy with lactic acidosis due to ISCU deficiency','Disease','A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.'),('431156','Primary immunodeficiency with predisposition to severe viral infection','Category','no definition available'),('43116','Serotonin syndrome','Disease','Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).'),('431166','Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection','Disease','Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.'),('43117','Acute tricyclic antidepressant poisoning','Particular clinical situation in a disease or syndrome','A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.'),('43119','Acute poisoning by drugs with membrane-stabilizing effect','Particular clinical situation in a disease or syndrome','A rare, potentially life-threatening disorder due to toxic effects. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.'),('431255','Scapuloperoneal spinal muscular atrophy','Disease','A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.'),('431263','Late-onset scapuloperoneal muscular dystrophy with hyaline bodies','Clinical group','no definition available'),('431272','X-linked scapuloperoneal muscular dystrophy','Disease','A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.'),('431320','Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder','Clinical group','A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.'),('431329','Autosomal recessive spastic paraplegia type 57','Disease','Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.'),('431341','Patent urachus','Morphological anomaly','Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.'),('431344','Urachal sinus','Morphological anomaly','Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.'),('431347','Urachal diverticulum','Morphological anomaly','Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.'),('431353','Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis','Category','A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.'),('431361','Progressive encephalopathy with leukodystrophy due to DECR deficiency','Disease','Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.'),('432','Normosmic congenital hypogonadotropic hypogonadism','Clinical subtype','no definition available'),('43393','Lambert-Eaton myasthenic syndrome','Disease','Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).'),('434179','Orofaciodigital syndrome type 14','Malformation syndrome','Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.'),('434786','Rare genetic autonomic nervous system disorder','Category','no definition available'),('434809','Syndrome with woolly hair','Category','no definition available'),('435','OBSOLETE: Ito hypomelanosis','Disease','no definition available'),('435329','Familial ossifying fibroma','Disease','no definition available'),('435365','Fetal lower urinary tract obstruction','Clinical group','no definition available'),('435372','Anterior urethral valve','Morphological anomaly','no definition available'),('435387','Autosomal dominant Charcot-Marie-Tooth disease type 2Y','Disease','A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.'),('435438','Progressive myoclonic epilepsy type 7','Disease','A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.'),('435554','Genetic precocious puberty','Category','no definition available'),('435561','Precocious puberty in female','Category','no definition available'),('435564','Genetic precocious puberty in female','Category','no definition available'),('435603','Genetic otorhinolaryngological malformation','Category','no definition available'),('435606','Genetic nose and cavum anomaly','Category','no definition available'),('435609','Genetic larynx anomaly','Category','no definition available'),('435612','Genetic tracheal anomaly','Category','no definition available'),('435623','OBSOLETE: Adactyly of foot','Morphological anomaly','no definition available'),('435628','Keppen-Lubinsky syndrome','Malformation syndrome','A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.'),('435638','3p25.3 microdeletion syndrome','Malformation syndrome','3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.'),('435651','CIDEC-related familial partial lipodystrophy','Disease','A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.'),('435660','LIPE-related familial partial lipodystrophy','Disease','A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.'),('435743','Congenital urachal anomaly','Category','Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).'),('435804','Short stature-advanced bone age-early-onset osteoarthritis syndrome','Disease','A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.'),('435808','OBSOLETE: ACAN-related skeletal dysplasia','Clinical group','no definition available'),('435819','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation','Disease','A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.'),('435845','Lethal neonatal spasticity-epileptic encephalopathy syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.'),('435930','Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome','Disease','no definition available'),('435934','COG2-CDG','Disease','A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.'),('435938','X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome','Malformation syndrome','X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.'),('435953','Progeroid features-hepatocellular carcinoma predisposition syndrome','Disease','no definition available'),('435988','Chronic atrial and intestinal dysrhythmia syndrome','Disease','no definition available'),('435998','Autosomal recessive intermediate Charcot-Marie-Tooth disease type D','Disease','Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.'),('436','Hypophosphatasia','Disease','A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.'),('436003','Contractures-developmental delay-Pierre Robin syndrome','Malformation syndrome','no definition available'),('436141','Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome','Malformation syndrome','no definition available'),('436144','Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome','Disease','no definition available'),('436151','Intellectual disability-expressive aphasia-facial dysmorphism syndrome','Disease','A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.'),('436159','Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency','Disease','A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.'),('436166','Periodic fever-infantile enterocolitis-autoinflammatory syndrome','Disease','no definition available'),('436169','Thrombomodulin-related bleeding disorder','Disease','no definition available'),('436174','Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome','Disease','no definition available'),('436182','Microcephalic primordial dwarfism-insulin resistance syndrome','Malformation syndrome','no definition available'),('436242','Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease','Disease','no definition available'),('436245','Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome','Disease','A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).'),('436252','Combined immunodeficiency-enteropathy spectrum','Disease','no definition available'),('436271','Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy','Disease','A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.'),('436274','Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa','Disease','A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.'),('437','Hypophosphatemic rickets','Clinical group','Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.'),('437552','Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity','Disease','A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Ebstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.'),('437572','MYH7-related late-onset scapuloperoneal muscular dystrophy','Disease','no definition available'),('438072','Disorder of keton body transport','Category','no definition available'),('438075','Ketoacidosis due to monocarboxylate transporter-1 deficiency','Disease','no definition available'),('438114','RARS-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.'),('438117','Steel syndrome','Disease','no definition available'),('438134','PCNA-related progressive neurodegenerative photosensitivity syndrome','Disease','PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.'),('438159','STAT3-related early-onset multisystem autoimmune disease','Disease','A rare, genetic, lypmhoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variabe autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.'),('438178','Fatty acyl-CoA reductase 1 deficiency','Disease','A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.'),('438207','Severe autosomal recessive macrothrombocytopenia','Disease','no definition available'),('438213','PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome','Disease','A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.'),('438216','PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation','Etiological subtype','no definition available'),('438266','Progressive encephalomyelitis with rigidity and myoclonus','Clinical subtype','no definition available'),('438274','GCGR-related hyperglucagonemia','Disease','A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.'),('438279','Human infection by orthopoxvirus','Disease','A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.'),('439','Isolated right ventricular hypoplasia','Morphological anomaly','Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.'),('439167','Placental insufficiency','Clinical syndrome','no definition available'),('439175','Pediatric arterial ischemic stroke','Clinical syndrome','no definition available'),('439196','Zinc-responsive necrolytic acral erythema','Particular clinical situation in a disease or syndrome','no definition available'),('439202','Non-recovering obstetric brachial plexus lesion','Disease','A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.'),('439212','Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome','Disease','no definition available'),('439218','KCNQ2-related epileptic encephalopathy','Disease','KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.'),('439224','ALECT2 amyloidosis','Disease','A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.'),('439232','AApoAIV amyloidosis','Disease','A rare, systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullar amyloid deposits.'),('439246','ABeta2M amyloidosis','Clinical group','no definition available'),('439254','ITM2B amyloidosis','Disease','A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.'),('439729','Cutaneous polyarteritis nodosa','Clinical subtype','Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.'),('439737','Primary polyarteritis nodosa','Clinical subtype','no definition available'),('439746','Secondary polyarteritis nodosa','Clinical subtype','Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).'),('439755','Single-organ polyarteritis nodosa','Clinical subtype','Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.'),('439762','Systemic polyarteritis nodosa','Clinical subtype','Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.'),('439822','PDE4D haploinsufficiency syndrome','Malformation syndrome','PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.'),('439849','Autosomal recessive severe congenital neutropenia','Category','no definition available'),('439854','Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease','Disease','no definition available'),('439881','Plastic bronchitis','Particular clinical situation in a disease or syndrome','no definition available'),('439897','Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome','Malformation syndrome','Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.'),('44','Neonatal adrenoleukodystrophy','Disease','A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).'),('440','OBSOLETE: Familial hypospadias','Morphological anomaly','no definition available'),('440221','Congenital oculomotor nerve palsy','Disease','A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.'),('440233','Congenital abducens nerve palsy','Disease','no definition available'),('440354','Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome','Malformation syndrome','no definition available'),('440368','Necrotizing soft tissue infection','Disease','A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.'),('440392','Interstitial lung disease due to SP-C deficiency','Disease','no definition available'),('440402','Interstitial lung disease due to ABCA3 deficiency','Disease','Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.'),('440427','Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency','Disease','A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.'),('440437','Familial colorectal cancer Type X','Disease','A rare, hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern, when compared to Lynch syndrome cases.'),('440701','Disorders of pentose/polyol metabolism','Category','no definition available'),('440706','Ribose-5-P isomerase deficiency','Disease','Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.'),('440713','Isolated sedoheptulokinase deficiency','Disease','A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythtirol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.'),('440724','Extensive peripapillary myelinated nerve fibers','Disease','A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.'),('440727','Combined hamartoma of the retina and retinal pigment epithelium','Disease','no definition available'),('440731','L-ferritin deficiency','Biological anomaly','no definition available'),('440987','Isolated agenesis of gallbladder','Morphological anomaly','no definition available'),('441','Pure autonomic failure','Disease','Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.'),('441344','OBSOLETE: Autosomal recessive optic atrophy, OPA9 type','Clinical subtype','no definition available'),('441434','Syndromic hereditary optic neuropathy','Category','no definition available'),('441447','Early-onset posterior subcapsular cataract','Clinical subtype','no definition available'),('441452','Early-onset lamellar cataract','Clinical subtype','no definition available'),('442','Congenital hypothyroidism','Category','Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.'),('442582','AH amyloidosis','Disease','A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.'),('442835','Undetermined early-onset epileptic encephalopathy','Disease','A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.'),('443057','Sporadic porphyria cutanea tarda','Clinical subtype','no definition available'),('443062','Familial porphyria cutanea tarda','Clinical subtype','no definition available'),('443070','Hemicrania continua','Disease','Hemicrania continua is a rare, indomethacin-responsive, trigeminal autonomic cephalgia characterized by a typically side-locked, continuous, unilateral headache of moderate intensity with recurrent episodes of exacerbations of severe intensity, lasting for more than 3 months, in the absence of structural brain or vascular lesions. Ipsilateral cranial autonomic symptoms (lacrimation, conjunctival injection, nasal congestion or rhinorrhea, ptosis/miosis), restlessness and/or migrainous features are observed during the exacerbations.'),('443073','Charcot-Marie-Tooth disease type 2S','Disease','A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.'),('443079','Central serous chorioretinopathy','Disease','A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. A blurred or gray spot in the central visual field is common when the retina is detached.'),('443084','Baroreflex failure','Clinical syndrome','A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.'),('443087','46,XY disorder of sex development due to testicular 17,20-desmolase deficiency','Disease','no definition available'),('443090','46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect','Category','no definition available'),('443095','Hyperinsulinemic hypoglycaemia','Category','no definition available'),('443098','Hyperostosis cranialis interna','Disease','no definition available'),('443101','Hypothalamic adipsic hypernatraemia syndrome','Disease','no definition available'),('443159','Lymphoplasmacytic lymphoma without IgM production','Disease','no definition available'),('443162','NDE1-related microhydranencephaly','Malformation syndrome','NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.'),('443167','NUT midline carcinoma','Disease','no definition available'),('443173','Postpartum psychosis','Disease','A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.'),('443180','Spontaneous intracranial hypotension','Disease','A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.'),('443192','Classic stiff person syndrome','Clinical subtype','no definition available'),('443197','X-linked erythropoietic protoporphyria','Disease','no definition available'),('443227','Paratyphoid fever','Disease','A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.'),('443236','Postural orthostatic tachycardia syndrome due to NET deficiency','Disease','A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.'),('443287','ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor','Category','no definition available'),('443291','HIV-associated cancer','Particular clinical situation in a disease or syndrome','no definition available'),('443301','OBSOLETE: HIV-related lung cancer','Disease','no definition available'),('443304','OBSOLETE: HIV-related oropharyngeal cancer','Disease','no definition available'),('443307','OBSOLETE: HIV-related anal cancer','Disease','no definition available'),('443310','OBSOLETE: HIV-related hepatocellular carcinoma','Disease','no definition available'),('443313','OBSOLETE: HIV-related penile cancer','Disease','no definition available'),('443316','OBSOLETE: HIV-related Hodgkin lymphoma','Disease','no definition available'),('443319','OBSOLETE: HIV-related vulvovaginal cancer','Disease','no definition available'),('443322','OBSOLETE: HIV-related cervical cancer','Disease','no definition available'),('443325','OBSOLETE: HIV-related Non-Hodgkin lymphoma','Disease','no definition available'),('443328','OBSOLETE: HIV-related Kaposi sarcoma','Disease','no definition available'),('443804','Focal stiff limb syndrome','Clinical subtype','no definition available'),('443811','PGM3-CDG','Disease','PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.'),('443909','Hereditary nonpolyposis colon cancer','Clinical group','A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.'),('443950','DNAJB2-related Charcot-Marie-Tooth disease type 2','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.'),('443988','Ventriculomegaly-cystic kidney disease','Disease','A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.'),('443995','Mandibulofacial dysostosis with alopecia','Malformation syndrome','no definition available'),('444','Marie Unna hereditary hypotrichosis','Disease','A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.'),('444002','11q22.2q22.3 microdeletion syndrome','Malformation syndrome','11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.'),('444013','Combined oxidative phosphorylation defect type 23','Disease','no definition available'),('444048','46,XX ovarian dysgenesis-short stature syndrome','Disease','A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.'),('444051','20q11.2 microdeletion syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.'),('444069','Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome','Malformation syndrome','no definition available'),('444072','Cerebellar-facial-dental syndrome','Malformation syndrome','no definition available'),('444077','Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome','Malformation syndrome','no definition available'),('444092','Autoimmune interstitial lung disease-arthritis syndrome','Disease','no definition available'),('444099','Autosomal dominant spastic paraplegia type 73','Disease','A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.'),('444116','Hereditary amyloidosis','Category','no definition available'),('444138','Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome','Disease','no definition available'),('444316','Idiopathic phalangeal acro-osteolysis','Disease','no definition available'),('444458','Combined oxidative phosphorylation defect type 24','Disease','Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.'),('444463','Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome','Disease','no definition available'),('444490','Familial chylomicronemia syndrome','Disease','no definition available'),('444916','Pseudohypoaldosteronism','Clinical group','no definition available'),('444941','Caudal regression-sirenomelia spectrum','Clinical group','Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.'),('445018','Combined immunodeficiency due to LRBA deficiency','Disease','A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.'),('445038','3-methylglutaconic aciduria type 7','Disease','no definition available'),('445062','Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome','Disease','A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.'),('445110','Limb-girdle muscular dystrophy due to POMK deficiency','Disease','Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.'),('445197','Secondary vasculitis','Category','no definition available'),('446','Neonatal hemochromatosis','Disease','Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.'),('447','Paroxysmal nocturnal hemoglobinuria','Disease','Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.'),('447731','NIK deficiency','Disease','A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.'),('447737','DOCK2 deficiency','Disease','A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.'),('447740','Susceptibility to localized juvenile periodontitis','Disease','no definition available'),('447753','Autosomal dominant spastic paraplegia type 9A','Disease','A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.'),('447757','Autosomal dominant spastic paraplegia type 9B','Disease','A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.'),('447760','Autosomal recessive spastic paraplegia type 9B','Disease','A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.'),('447764','IgG4-related sclerosing cholangitis','Disease','A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.'),('447771','Sclerosing cholangitis','Clinical group','no definition available'),('447774','Secondary sclerosing cholangitis','Disease','A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.'),('447777','Keratocystic odontogenic tumor','Disease','no definition available'),('447784','Mitochondrial pyruvate carrier deficiency','Disease','no definition available'),('447788','Cerebral visual impairment','Clinical syndrome','A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.'),('447792','Hemochromatosis type 5','Disease','no definition available'),('447795','Lipoyl transferase 2 deficiency','Biological anomaly','no definition available'),('447874','Biological anomaly without phenotypic characterization','Category','no definition available'),('447877','Polymerase proofreading-related adenomatous polyposis','Clinical subtype','no definition available'),('447881','Idiopathic dropped head syndrome','Clinical syndrome','A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.'),('447893','Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome','Clinical subtype','no definition available'),('447896','Tremor-ataxia-central hypomyelination syndrome','Clinical subtype','no definition available'),('447954','Combined oxidative phosphorylation defect type 25','Disease','Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.'),('447961','Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome','Disease','no definition available'),('447964','Autosomal dominant Charcot-Marie-Tooth disease type 2V','Disease','A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.'),('447974','Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('447977','Progressive scapulohumeroperoneal distal myopathy','Disease','A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.'),('447980','19p13.3 microduplication syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.'),('447985','Partial duplication of the short arm of chromosome 19','Category','no definition available'),('447997','Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome','Disease','A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.'),('448','Hemophilia','Clinical group','Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.'),('448010','CAD-CDG','Disease','CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.'),('448237','Zika virus disease','Disease','Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.'),('448242','Autosomal recessive brachyolmia','Malformation syndrome','Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.'),('448251','Progressive autosomal recessive ataxia-deafness syndrome','Disease','A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.'),('448264','Isolated focal non-epidermolytic palmoplantar keratoderma','Disease','no definition available'),('448267','Regressive spondylometaphyseal dysplasia','Malformation syndrome','Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.'),('448270','Ectopia cordis','Morphological anomaly','no definition available'),('448348','OBSOLETE: X-linked acrogigantism due to a point mutation','Etiological subtype','no definition available'),('448372','OBSOLETE: X-linked acrogigantism due to Xq26 microduplication','Etiological subtype','no definition available'),('448426','Genetic primary orthostatic hypotension','Category','no definition available'),('44890','Gastrointestinal stromal tumor','Disease','Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.'),('449','Hepatoblastoma','Disease','A malignant hepatic tumor, typically affecting the pediatric population, characterized by anorexia, weight loss and an enlarged abdomen. This disorder is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5 % of cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.'),('449262','NON RARE IN EUROPE: Primary bile acid malabsorption','Disease','no definition available'),('449266','Pleural empyema','Particular clinical situation in a disease or syndrome','no definition available'),('449280','Scedosporiosis','Disease','A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.'),('449285','Snakebite envenomation','Disease','no definition available'),('449291','Symptomatic form of fragile X syndrome in female carrier','Disease','no definition available'),('449395','IgG4-related kidney disease','Disease','A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, mass lesions, enlarged kidneys and hydronephrosis.'),('449400','IgG4-related aortitis','Disease','no definition available'),('449427','IgG4-related pachymeningitis','Disease','A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.'),('449432','IgG4-related submandibular gland disease','Disease','no definition available'),('449563','IgG4-related ophthalmic disease','Disease','A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.'),('449566','Eosinophilic angiocentric fibrosis','Disease','no definition available'),('45','Adenosine monophosphate deaminase deficiency','Disease','A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.'),('450','Heterotaxia','Category','Heterotaxia (coming from the Greek `heteros` meaning different and `taxis` meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located).'),('450322','Polyclonal hyperviscosity syndrome','Clinical syndrome','no definition available'),('451602','Primary cutaneous plasmacytosis','Disease','no definition available'),('451607','Cutaneous pseudolymphoma','Disease','no definition available'),('451612','Familial congenital nasolacrimal duct obstruction','Morphological anomaly','A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.'),('452','X-linked lissencephaly with abnormal genitalia','Malformation syndrome','X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.'),('453','IBIDS syndrome','Disease','no definition available'),('453499','Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome','Malformation syndrome','no definition available'),('453504','Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation','Etiological subtype','no definition available'),('453510','Congenital insensitivity to pain with severe intellectual disability','Disease','Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.'),('453521','Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency','Disease','A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.'),('453533','Polyendocrine-polyneuropathy syndrome','Disease','no definition available'),('45358','Congenital fibrosis of extraocular muscles','Disease','no definition available'),('45360','NON RARE IN EUROPE: Menière disease','Disease','no definition available'),('454','Acquired ichthyosis','Disease','A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.'),('45448','Miyoshi myopathy','Disease','A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.'),('45452','Idiopathic neonatal atrial flutter','Disease','Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.'),('45453','Incessant infant ventricular tachycardia','Disease','Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.'),('454700','Acquired Creutzfeldt-Jakob disease','Clinical group','A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).'),('454706','Progressive muscular atrophy','Disease','A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.'),('454710','Anti-p200 pemphigoid','Disease','A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.'),('454714','Plasma cell leukemia','Disease','no definition available'),('454718','Holmes-Adie syndrome','Disease','no definition available'),('454723','Endometrioid carcinoma of ovary','Disease','no definition available'),('454742','Variably protease-sensitive prionopathy','Disease','A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.'),('454745','Kuru','Disease','A rare, acquired human prion disease characterized by rapidly progressive neurodegeneration, cerebellar symptoms (especially ataxia, but also tremor, dysarthria, and nystagmus) being the most prominent clinical feature, following an asymptomatic incubation period of up to several decades and a non-specific prodromal phase with headaches and arthralgia. Other neurological signs occurring in the course of the disease involve also the brain stem, mid-brain, hypothalamus, and cerebral cortex. Emotional changes include inappropriate euphoria and compulsive laughter, or depression and apprehension. The disease is invariably fatal within approximately one year.'),('454750','Isolated tracheoesophageal fistula','Morphological anomaly','no definition available'),('454821','Pleomorphic salivary gland adenoma','Histopathological subtype','no definition available'),('454831','Acute radiation syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('454836','Avian influenza','Disease','A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.'),('454840','NTHL1-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('454872','OBSOLETE: Type 1 interferonopathy with immunodeficiency','Category','no definition available'),('454887','Corticobasal syndrome','Disease','A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.'),('455','Superficial epidermolytic ichthyosis','Disease','Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.'),('456298','1p35.2 microdeletion syndrome','Malformation syndrome','A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.'),('456312','Infantile multisystem neurologic-endocrine-pancreatic disease','Disease','no definition available'),('456318','Hereditary sensory neuropathy-deafness-dementia syndrome','Disease','A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.'),('456328','X-linked myotubular myopathy-abnormal genitalia syndrome','Disease','X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.'),('456333','Hereditary neuroendocrine tumor of small intestine','Disease','no definition available'),('456369','Polyglucosan body myopathy type 2','Disease','A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.'),('457','Harlequin ichthyosis','Disease','Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.'),('457050','Autosomal dominant mitochondrial myopathy with exercise intolerance','Disease','A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.'),('457059','Pseudohypoparathyroidism with Albright hereditary osteodystrophy','Clinical group','no definition available'),('457062','Pseudohypoparathyroidism without Albright hereditary osteodystrophy','Clinical group','no definition available'),('457074','Congenital nemaline myopathy','Clinical group','no definition available'),('457077','TAFRO syndrome','Disease','no definition available'),('457083','Isolated splenogonadal fusion','Morphological anomaly','A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.'),('457088','Predisposition to invasive fungal disease due to CARD9 deficiency','Disease','A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.'),('457095','Actinomycosis','Disease','A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.'),('457185','Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome','Disease','A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.'),('457193','Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome','Malformation syndrome','no definition available'),('457205','Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome','Disease','A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.'),('457212','Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome','Disease','no definition available'),('457223','Syndromic sensorineural deafness due to combined oxidative phosphorylation defect','Disease','no definition available'),('457240','X-linked intellectual disability-short stature-overweight syndrome','Malformation syndrome','X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.'),('457246','Clear cell sarcoma of kidney','Disease','Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.'),('457252','Squamous cell carcinoma of the oral tongue','Disease','no definition available'),('457260','X-linked intellectual disability-hypotonia-movement disorder syndrome','Disease','A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.'),('457265','Progressive myoclonic epilepsy type 9','Disease','A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, venticulomegaly, interhemispheric cysts, and simplified gyration (frontally).'),('457279','Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome','Malformation syndrome','A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.'),('457284','Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('457351','Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome','Malformation syndrome','no definition available'),('457359','Megalencephaly-severe kyphoscoliosis-overgrowth syndrome','Malformation syndrome','no definition available'),('457365','Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('457375','ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement','Disease','A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.'),('457378','Complex lethal osteochondrodysplasia','Malformation syndrome','A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.'),('457395','Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome','Malformation syndrome','no definition available'),('457406','Multiple mitochondrial dysfunctions syndrome type 4','Disease','A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.'),('457485','Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.'),('458713','NON RARE IN EUROPE: Specific language impairment','Disease','no definition available'),('458718','Idiopathic spontaneous coronary artery dissection','Disease','no definition available'),('458758','Composite hemangioendothelioma','Disease','A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.'),('458763','Retiform hemangioendothelioma','Disease','A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.'),('458768','Primary intralymphatic angioendothelioma','Disease','A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.'),('458775','Congenital hemangioma','Clinical group','no definition available'),('458785','Partially involuting congenital hemangioma','Disease','A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.'),('458792','Mixed cystic lymphatic malformation','Malformation syndrome','A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.'),('458798','Spinocerebellar ataxia type 41','Disease','Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.'),('458803','Spinocerebellar ataxia type 42','Disease','Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.'),('458827','Vascular tumor with associated anomalies','Category','no definition available'),('458830','Rare capillary malformation with associated anomalies','Category','no definition available'),('458833','Common cystic lymphatic malformation','Clinical group','no definition available'),('458837','Rare combined vascular malformation','Clinical group','no definition available'),('458841','OBSOLETE: Primary lymphedema with associated anomalies','Category','no definition available'),('458844','Rare vascular malformation of major vessels','Category','no definition available'),('459033','Ataxia-oculomotor apraxia type 4','Disease','A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.'),('459051','Spondyloepiphyseal dysplasia, Stanescu type','Disease','no definition available'),('459056','Autosomal recessive spastic paraplegia type 75','Disease','Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.'),('459061','Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.'),('459070','X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome','Malformation syndrome','no definition available'),('459074','Corpus callosum agenesis-macrocephaly-hypertelorism syndrome','Malformation syndrome','no definition available'),('459345','Immunodeficiency due to a complement cascade component deficiency','Category','no definition available'),('459348','Immunodeficiency due to a complement regulatory deficiency','Category','no definition available'),('459353','C1 inhibitor deficiency','Disease','no definition available'),('459526','Rare genetic capillary malformation','Category','no definition available'),('459530','OBSOLETE: Genetic primary lymphedema','Category','no definition available'),('459537','Genetic complex vascular malformation with associated anomalies','Category','no definition available'),('459543','Rare genetic vascular tumor','Category','no definition available'),('459548','Rare genetic venous malformation','Category','no definition available'),('459690','NON RARE IN EUROPE: Gender dysphoria','Disease','no definition available'),('459696','NON RARE IN EUROPE: Juvenile idiopathic scoliosis','Morphological anomaly','no definition available'),('459787','Lethal multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('46','Adenylosuccinate lyase deficiency','Disease','A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.'),('46059','Lathosterolosis','Disease','Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.'),('461','Recessive X-linked ichthyosis','Disease','Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.'),('46135','Primary central nervous system lymphoma','Disease','Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.'),('462','NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris','Disease','no definition available'),('463','NON RARE IN EUROPE: Adrenal incidentaloma','Disease','no definition available'),('46348','Paroxysmal extreme pain disorder','Disease','A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.'),('464','Incontinentia pigmenti','Malformation syndrome','An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko`s lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.'),('464282','Spastic paraplegia-severe developmental delay-epilepsy syndrome','Disease','Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.'),('464288','Short stature-brachydactyly-obesity-global developmental delay syndrome','Malformation syndrome','no definition available'),('464293','NON RARE IN EUROPE: Infantile capillary hemangioma','Disease','no definition available'),('464306','DYRK1A-related intellectual disability syndrome','Malformation syndrome','no definition available'),('464311','Intellectual disability syndrome due to a DYRK1A point mutation','Clinical subtype','no definition available'),('464318','Verrucous hemangioma','Disease','no definition available'),('464321','Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome','Disease','no definition available'),('464329','Kaposiform lymphangiomatosis','Disease','A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.'),('464336','BENTA disease','Disease','no definition available'),('464343','Catastrophic antiphospholipid syndrome','Disease','no definition available'),('464359','Benign metanephric tumour','Disease','no definition available'),('464366','NEK9-related lethal skeletal dysplasia','Malformation syndrome','NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.'),('464370','Neonatal alloimmune neutropenia','Disease','A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.'),('464440','Primary dystonia, DYT27 type','Disease','A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.'),('464443','COG6-CGD','Disease','no definition available'),('464453','Acquired methemoglobinemia','Disease','A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.'),('464458','Paracetamol poisoning','Particular clinical situation in a disease or syndrome','no definition available'),('464463','NON RARE IN EUROPE: Adenocarcinoma of stomach','Disease','no definition available'),('464682','OBSOLETE: Disorder with acute infantile liver failure','Clinical group','no definition available'),('464724','Fever-associated acute infantile liver failure syndrome','Disease','no definition available'),('464738','Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome','Malformation syndrome','no definition available'),('464756','Familial gastric type 1 neuroendocrine tumor','Disease','no definition available'),('464760','Familial cavitary optic disc anomaly','Morphological anomaly','no definition available'),('464764','Immune-mediated acquired neuromuscular junction disease','Clinical group','no definition available'),('46484','Oligodendroglial tumor','Clinical group','Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).'),('46485','Superficial pemphigus','Clinical group','A rare, autoimmune, bullous skin disease characterized clinically by multiple flaccid blisters, typically occurring on the face, scalp, trunk and extremities, which rapidly evolve into scaly, crusted, pruritic skin erosions. Histopathologically, superficial acantolytic blisters, as well as intercellular deposits of IgG autoantibodies directed against desmoglein 1 (and occasionally against desmoglein 3) in the upper epidermis, are observed.'),('46486','Mucous membrane pemphigoid','Disease','A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.'),('46487','Epidermolysis bullosa acquisita','Disease','A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient`s serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.'),('46488','Linear IgA dermatosis','Disease','A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).'),('46489','OBSOLETE: Bullous systemic lupus erythematosus','Disease','no definition available'),('465','Congenital plasminogen activator inhibitor type 1 deficiency','Disease','A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.'),('46532','Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome','Disease','Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.'); +INSERT INTO `Diseases` VALUES ('465508','Symptomatic form of hemochromatosis type 1','Disease','Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.'),('465824','Fetal encasement syndrome','Malformation syndrome','Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.'),('466','Fatal familial insomnia','Disease','Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.'),('466026','Class I glucose-6-phosphate dehydrogenase deficiency','Disease','no definition available'),('466066','Genetic hemoglobinopathy','Category','no definition available'),('466084','Genetic otorhinolaryngologic disease','Category','no definition available'),('46627','Char syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).'),('46658','Primordial short stature-microdontia-opalescent and rootless teeth syndrome','Malformation syndrome','no definition available'),('466650','Exercise-induced malignant hyperthermia','Disease','A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.'),('466658','Rare disease with malignant hyperthermia','Category','no definition available'),('466667','NON RARE IN EUROPE: Colorectal cancer','Disease','no definition available'),('466670','Cyanide poisoning','Particular clinical situation in a disease or syndrome','no definition available'),('466673','NON RARE IN EUROPE: Post-herpetic neuralgia','Particular clinical situation in a disease or syndrome','no definition available'),('466677','Scorpion envenomation','Disease','Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.'),('466682','Euthyroid Graves orbitopathy','Disease','no definition available'),('466688','Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.'),('466695','Supratip dysplasia','Morphological anomaly','Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.'),('466703','TMEM199-CDG','Disease','no definition available'),('466718','Martinique crinkled retinal pigment epitheliopathy','Disease','A rare, genetic retinal disease characterized by characteristic \"dried-out soil\" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch`s membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.'),('466722','Autosomal recessive spastic paraplegia type 77','Disease','Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.'),('466729','Familial patent arterial duct','Morphological anomaly','Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.'),('466732','OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome','Malformation syndrome','no definition available'),('466768','Autosomal dominant Charcot-Marie-Tooth disease type 2Z','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.'),('466775','Autosomal recessive Charcot-Marie-Tooth disease type 2X','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.'),('466784','Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect','Disease','no definition available'),('466791','Macrocephaly-intellectual disability-left ventricular non compaction syndrome','Malformation syndrome','Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.'),('466794','Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.'),('466801','LIMS2-related limb-girdle muscular dystrophy','Disease','A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.'),('466806','Autosomal dominant thrombocytopenia with platelet secretion defect','Disease','A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.'),('466921','Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome','Disease','A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.'),('466926','Seizures-scoliosis-macrocephaly syndrome','Disease','Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.'),('466934','VPS11-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.'),('466943','WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.'),('466950','Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation','Clinical subtype','no definition available'),('466962','SMARCA4-deficient sarcoma of thorax','Disease','no definition available'),('467','Non-acquired combined pituitary hormone deficiency','Category','Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.'),('467166','Tubulinopathy-associated dysgyria','Disease','no definition available'),('467176','Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome','Disease','Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.'),('46724','Cerebral arteriovenous malformation','Morphological anomaly','Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.'),('468620','Intellectual disability-epilepsy-extrapyramidal syndrome','Disease','A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.'),('468631','Microcephalic primordial dwarfism due to RTTN deficiency','Malformation syndrome','Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.'),('468635','Cryptogenic multifocal ulcerous stenosing enteritis','Disease','no definition available'),('468641','Chronic enteropathy associated with SLCO2A1 gene','Disease','no definition available'),('468661','Autosomal recessive spastic paraplegia type 74','Disease','Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.'),('468666','Isolated generalized anhidrosis with normal sweat glands','Disease','no definition available'),('468672','Colobomatous macrophthalmia-microcornea syndrome','Disease','no definition available'),('468678','Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome','Disease','Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).'),('468684','CCDC115-CDG','Disease','no definition available'),('468699','SLC39A8-CDG','Disease','no definition available'),('468717','Rhizomelic chondrodysplasia punctata type 5','Etiological subtype','no definition available'),('468726','Severe primary trimethylaminuria','Disease','no definition available'),('469','Hereditary fructose intolerance','Disease','Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.'),('47','X-linked agammaglobulinemia','Clinical subtype','A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.'),('470','Lysinuric protein intolerance','Disease','Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.'),('47044','Hereditary papillary renal cell carcinoma','Disease','Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.'),('47045','Familial cold urticaria','Disease','Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.'),('471383','Genetic lethal multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('47159','Proximal renal tubular acidosis','Disease','Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.'),('472','Isosporiasis','Disease','Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with Isospora belli (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.'),('474','Jeune syndrome','Malformation syndrome','Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including `trident` aspect of the acetabula and metaphyseal changes.'),('474347','Rare congenital anomaly of ventricular septum','Clinical group','no definition available'),('475','Joubert syndrome','Malformation syndrome','Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.'),('476084','BVES-related limb-girdle muscular dystrophy','Disease','A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.'),('476093','Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome','Disease','A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.'),('476096','Erythrokeratodermia-cardiomyopathy syndrome','Disease','Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.'),('476102','Hereditary pediatric Behçet-like disease','Disease','no definition available'),('476109','Axonal hereditary motor and sensory neuropathy','Clinical group','no definition available'),('476113','Combined immunodeficiency due to TFRC deficiency','Disease','no definition available'),('476116','Demyelinating hereditary motor and sensory neuropathy','Clinical group','no definition available'),('476119','Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome','Malformation syndrome','no definition available'),('47612','Felty syndrome','Disease','Felty syndrome (FS), also known as ``super rheumatoid`` disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.'),('476123','Intermediate Charcot-Marie-Tooth disease','Clinical group','no definition available'),('476126','Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome','Malformation syndrome','no definition available'),('476394','PMP2-related Charcot-Marie-Tooth disease type 1','Disease','A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.'),('476403','Hypercontractile muscle stiffness syndrome','Clinical group','no definition available'),('476406','Congenital generalized hypercontractile muscle stiffness syndrome','Disease','A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.'),('477','KID syndrome','Disease','A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.'),('477647','Type 1 interferonopathy','Category','no definition available'),('477650','Fibroblastic rheumatism','Disease','no definition available'),('477661','IL21-related infantile inflammatory bowel disease','Disease','no definition available'),('477668','OBSOLETE: Aymé-Gripp syndrome','Malformation syndrome','no definition available'),('477673','Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome','Disease','A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.'),('477684','Combined oxidative phosphorylation defect type 26','Disease','no definition available'),('477697','OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome','Disease','no definition available'),('477738','Pediatric multiple sclerosis','Disease','Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.'),('477742','Nodular fasciitis','Disease','no definition available'),('477749','Pontine autosomal dominant microangiopathy with leukoencephalopathy','Disease','no definition available'),('477754','Genetic cerebral small vessel disease','Category','no definition available'),('477759','COL4A1 or COL4A2-related cerebral small vessel disease','Category','no definition available'),('477762','COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy','Clinical group','no definition available'),('477765','COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy','Clinical group','no definition available'),('477768','Moyamoya angiopathy','Clinical group','no definition available'),('477771','Rare disorder with a moyamoya angiopathy','Category','no definition available'),('477774','Combined oxidative phosphorylation defect type 27','Disease','no definition available'),('477781','Primary condylar hyperplasia','Disease','no definition available'),('477787','Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder','Disease','no definition available'),('477794','Syndromic constitutional thrombocytopenia','Category','no definition available'),('477797','Isolated constitutional thrombocytopenia','Category','no definition available'),('477805','Genetic cardiac malformation','Category','no definition available'),('477808','Other genetic dermis disorder','Category','no definition available'),('477811','Rare hypercholesterolemia','Category','no definition available'),('477814','Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome','Malformation syndrome','Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.'),('477817','PMP22-RAI1 contiguous gene duplication syndrome','Malformation syndrome','no definition available'),('477831','Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome','Malformation syndrome','no definition available'),('477857','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency','Disease','no definition available'),('477993','Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome','Malformation syndrome','Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.'),('478','Kallmann syndrome','Clinical subtype','Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).'),('478029','Combined oxidative phosphorylation defect type 29','Disease','no definition available'),('478042','Combined oxidative phosphorylation defect type 30','Disease','no definition available'),('478049','Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome','Disease','Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.'),('478664','Hereditary sensory and autonomic neuropathy type 8','Disease','A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.'),('48','Congenital bilateral absence of vas deferens','Morphological anomaly','Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.'),('480','Kearns-Sayre syndrome','Disease','A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.'),('480476','Progressive familial intrahepatic cholestasis type 5','Clinical subtype','no definition available'),('480483','Progressive familial intrahepatic cholestasis type 4','Clinical subtype','no definition available'),('480491','MYO5B-related progressive familial intrahepatic cholestasis','Clinical subtype','no definition available'),('480501','Choledochal cyst','Morphological anomaly','no definition available'),('480506','Primary intrahepatic lithiasis','Disease','no definition available'),('480512','Idiopathic ductopenia','Disease','no definition available'),('480520','Caroli syndrome','Malformation syndrome','no definition available'),('480524','Idiopathic peliosis hepatis','Disease','no definition available'),('480528','Lethal hydranencephaly-diaphragmatic hernia syndrome','Malformation syndrome','Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.'),('480531','Congenital portosystemic shunt','Morphological anomaly','Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.'),('480536','MSH3-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('480541','High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement','Disease','no definition available'),('480549','Non-severe combined immunodeficiency','Category','no definition available'),('480553','Aneurysmal bone cyst','Disease','no definition available'),('480556','Isolated neonatal sclerosing cholangitis','Disease','Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.'),('480682','POGLUT1-related limb-girdle muscular dystrophy R21','Disease','A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.'),('480701','Facial diplegia with paresthesias','Disease','A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described.'),('480773','OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome','Malformation syndrome','no definition available'),('480851','Hereditary thrombocytopenia with early-onset myelofibrosis','Disease','no definition available'),('480864','Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome','Disease','Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.'),('480880','X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability','Malformation syndrome','no definition available'),('480898','Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome','Disease','Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).'),('480907','X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome','Malformation syndrome','no definition available'),('481','Kennedy disease','Disease','Kennedy`s disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.'),('48104','Pyoderma gangrenosum','Disease','Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.'),('481152','PYCR2-related microcephaly-progressive leukoencephalopathy','Malformation syndrome','PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.'),('481469','OBSOLETE: Gastric neuroendocrine tumor type 1','Clinical subtype','no definition available'),('481475','OBSOLETE: Gastric neuroendocrine tumor type 2','Clinical subtype','no definition available'),('481478','OBSOLETE: Gastric neuroendocrine tumor type 3','Clinical subtype','no definition available'),('481481','OBSOLETE: Gastric neuroendocrine tumor type 4','Clinical subtype','no definition available'),('481508','Gastroenteric neuroendocrine neoplasm','Category','no definition available'),('48162','Lewis-Sumner syndrome','Clinical subtype','Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.'),('481662','Familial Chilblain lupus','Disease','no definition available'),('481665','USP18 deficiency','Disease','A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.'),('481671','Type 1 interferonopathy of childhood','Category','no definition available'),('481771','Genetic alopecia','Category','no definition available'),('481986','Familial schizencephaly','Etiological subtype','no definition available'),('482','Kimura disease','Disease','Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.'),('482072','HTRA1-related cerebral small vessel disease','Clinical group','no definition available'),('482077','HTRA1-related autosomal dominant cerebral small vessel disease','Disease','A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosus, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.'),('482092','Rare idiopathic macular telangiectasia','Category','no definition available'),('482601','Adenylosuccinate synthetase-like 1-related distal myopathy','Disease','A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.'),('482606','X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome','Malformation syndrome','no definition available'),('483','Congenital high-molecular-weight kininogen deficiency','Disease','no definition available'),('48372','Nodular regenerative hyperplasia of the liver','Disease','Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.'),('48377','Subcorneal pustular dermatosis','Disease','Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.'),('484','NON RARE IN EUROPE: Klinefelter syndrome','Malformation syndrome','no definition available'),('48431','Congenital cataracts-facial dysmorphism-neuropathy syndrome','Malformation syndrome','Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.'),('48435','Postinfectious vasculitis','Disease','Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.'),('48471','Lissencephaly','Category','The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.'),('485','Kniest dysplasia','Disease','Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).'),('485275','Acquired schizencephaly','Etiological subtype','no definition available'),('485350','CLCN4-related X-linked intellectual disability syndrome','Malformation syndrome','A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.'),('485358','Propylthiouracil embryofetopathy','Malformation syndrome','Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).'),('485382','Genetic non-acquired premature ovarian failure','Category','no definition available'),('485405','16p12.1p12.3 triplication syndrome','Malformation syndrome','16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.'),('485418','EMILIN-1-related connective tissue disease','Disease','A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.'),('485421','MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect','Etiological subtype','no definition available'),('485426','Isolated congenital hepatic fibrosis','Disease','no definition available'),('485631','Congenital bile acid synthesis defect','Clinical group','no definition available'),('486','Autosomal dominant severe congenital neutropenia','Disease','A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.'),('48652','Monosomy 22q13.3','Malformation syndrome','Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.'),('486811','Prenatal-onset spinal muscular atrophy with congenital bone fractures','Disease','A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.'),('486815','Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome','Disease','no definition available'),('48686','Primary effusion lymphoma','Disease','Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).'),('486955','Rare pediatric rheumatologic disease','Category','no definition available'),('487','Krabbe disease','Disease','Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.'),('48736','Embryonal carcinoma of the central nervous system','Clinical subtype','no definition available'),('487796','Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome','Malformation syndrome','no definition available'),('487809','Pediatric collagenous gastritis','Disease','no definition available'),('487814','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.'),('487825','Pierpont syndrome','Malformation syndrome','Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.'),('488','Urachal cyst','Morphological anomaly','Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.'),('488168','Microcephaly-congenital cataract-psoriasiform dermatitis syndrome','Malformation syndrome','no definition available'),('48818','Aceruloplasminemia','Disease','A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.'),('488191','Female infertility due to oocyte meiotic arrest','Disease','no definition available'),('488197','Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome','Disease','A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.'),('488201','NON RARE IN EUROPE: Non-small cell lung cancer','Disease','no definition available'),('488232','Split-foot malformation-mesoaxial polydactyly syndrome','Malformation syndrome','no definition available'),('488239','Acute macular neuroretinopathy','Disease','A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petalloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.'),('488265','Osteofibrous dysplasia','Disease','Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.'),('488280','14q32 duplication syndrome','Disease','14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.'),('488333','Autosomal dominant Charcot-Marie-Tooth disease type 2W','Disease','A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.'),('488434','Camptodactyly syndrome, Guadalajara type 3','Malformation syndrome','Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.'),('488437','SIX2-related frontonasal dysplasia','Malformation syndrome','no definition available'),('488586','Congenital amyoplasia','Malformation syndrome','no definition available'),('488594','Autosomal recessive spastic paraplegia type 76','Disease','Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.'),('488613','Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.'),('488618','Transketolase deficiency','Malformation syndrome','no definition available'),('488627','Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome','Malformation syndrome','no definition available'),('488632','TBCK-related intellectual disability syndrome','Malformation syndrome','TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.'),('488635','Early-onset epilepsy-intellectual disability-brain anomalies syndrome','Disease','A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.'),('488642','TELO2-related intellectual disability-neurodevelopmental disorder','Malformation syndrome','no definition available'),('488647','DDX41-related hematologic malignancy predisposition syndrome','Disease','no definition available'),('488650','Distal myopathy, Tateyama type','Disease','Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.'),('489','NON RARE IN EUROPE: Thyroglossal duct cyst','Morphological anomaly','no definition available'),('48918','Focal myositis','Disease','A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.'),('49','Penile agenesis','Morphological anomaly','Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.'),('490','Omphalomesenteric cyst','Morphological anomaly','A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen.'),('49041','IgG4-related retroperitoneal fibrosis','Disease','Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.'),('49042','Dentinogenesis imperfecta','Disease','Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.'),('492','Proliferating trichilemmal cyst','Disease','A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.'),('493','Familial keratoacanthoma','Disease','Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.'),('493342','Vibratory urticaria','Disease','Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.'),('493348','Vibratory angioedema','Disease','Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.'),('49382','Achromatopsia','Disease','A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.'),('494','Keratoderma hereditarium mutilans','Disease','Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.'),('494344','RERE-related neurodevelopmental syndrome','Malformation syndrome','no definition available'),('494348','Early-onset familial noncirrhotic portal hypertension','Disease','no definition available'),('494418','Vulvar carcinoma','Disease','no definition available'),('494421','Sacrococcygeal teratoma','Clinical subtype','no definition available'),('494424','Extracranial carotid artery aneurysm','Morphological anomaly','no definition available'),('494428','Idiopathic pleuroparenchymal fibroelastosis','Disease','no definition available'),('494433','MIRAGE syndrome','Disease','no definition available'),('494439','Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('494444','DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome','Disease','no definition available'),('494448','Vulvar squamous cell carcinoma','Histopathological subtype','no definition available'),('494451','Vulvar basal cell carcinoma','Histopathological subtype','no definition available'),('494454','Vulvar adenocarcinoma','Histopathological subtype','no definition available'),('494457','Rare hyperkinetic movement disorder','Category','no definition available'),('494526','Infantile-onset generalized dyskinesia with orofacial involvement','Disease','A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.'),('494541','Childhood-onset benign chorea with striatal involvement','Disease','A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.'),('494547','Squamous cell carcinoma of the hypopharynx','Disease','no definition available'),('494550','Squamous cell carcinoma of the larynx','Disease','no definition available'),('495','Transgrediens et progrediens palmoplantar keratoderma','Disease','A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles` tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.'),('495274','Charcot-Marie-Tooth disease type 2T','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.'),('49566','Acquired purpura fulminans','Disease','Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.'),('495818','9q33.3q34.11 microdeletion syndrome','Malformation syndrome','no definition available'),('495844','C11ORF73-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.'),('495875','Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('495879','Congenital agenesis of the scrotum','Morphological anomaly','no definition available'),('495930','Familial monosomy 7 syndrome','Disease','no definition available'),('496','Thost-Unna palmoplantar keratoderma','Disease','no definition available'),('496641','Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome','Malformation syndrome','A rare genetic neurodegenerative disease characterized by early-onset diffuse brain atrophy, growth failure with postnatal microcephaly, developmental delay, regression, profound intellectual disability, hypotonia, muscle weakness and atrophy, intractable seizures, spasticity, and optic atrophy. Patients are usually immobile and often require mechanical ventilation. Brain imaging shows cerebral and cerebellar atrophy, hypomyelination, and thin corpus callosum.'),('496686','Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome','Disease','no definition available'),('496689','Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome','Disease','no definition available'),('496693','Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome','Malformation syndrome','no definition available'),('496751','EVEN-plus syndrome','Malformation syndrome','no definition available'),('496756','Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome','Disease','A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.'),('496790','Ocular anomalies-axonal neuropathy-developmental delay syndrome','Disease','A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.'),('496916','Rare genetic hyperkinetic movement disorder','Category','no definition available'),('496924','Non-inflammatory vasculopathy','Category','no definition available'),('497188','Diffuse intrinsic pontine glioma','Disease','A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.'),('497623','C12ORF65-related combined oxidative phosphorylation defect','Clinical group','no definition available'),('497737','Epidermolytic nevus','Disease','no definition available'),('497757','MME-related autosomal dominant Charcot Marie Tooth disease type 2','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.'),('497764','Spinocerebellar ataxia type 43','Disease','Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.'),('497906','Childhood-onset basal ganglia degeneration syndrome','Disease','A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.'),('498','Keratosis pilaris atrophicans','Clinical group','no definition available'),('49804','Lichen amyloidosis','Disease','Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.'),('498228','Phyllodes tumor of the prostate','Disease','no definition available'),('498251','Menstrual cycle-dependent periodic fever','Disease','A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.'),('49827','Thiamine-responsive megaloblastic anemia syndrome','Disease','Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.'),('498345','Biliary atresia and associated disorders','Category','no definition available'),('498350','Syndromic biliary atresia','Clinical group','no definition available'),('498359','Aquagenic palmoplantar keratoderma','Disease','no definition available'),('498445','Genetic inflammatory or rheumatoid-like osteoarthropathy','Category','no definition available'),('498448','Overgrowth or tall stature syndrome with skeletal involvement','Category','no definition available'),('498451','Dysostosis with brachydactyly without extraskeletal manifestations','Category','no definition available'),('498454','Dysostosis with brachydactyly with extraskeletal manifestations','Category','no definition available'),('498457','Longitudinal limb defect','Category','no definition available'),('498461','Terminal transverse limb defect','Category','no definition available'),('498464','Non-syndromic preaxial polydactyly','Category','no definition available'),('498467','Non-syndromic postaxial polydactyly','Category','no definition available'),('498470','Non-syndromic complex polydactyly','Category','no definition available'),('498474','Hyaline fibromatosis syndrome','Disease','no definition available'),('498477','Ectrodactyly with and without other manifestations','Category','no definition available'),('498481','LRP5-related primary osteoporosis','Malformation syndrome','no definition available'),('498485','Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome','Malformation syndrome','no definition available'),('498488','Overgrowth syndrome with 2q37 translocation','Malformation syndrome','no definition available'),('498491','Complete hemimelia','Category','no definition available'),('498494','Mirror-image polydactyly','Morphological anomaly','no definition available'),('498497','Short rib-polydactyly syndrome type 5','Malformation syndrome','no definition available'),('498602','Sugarman brachydactyly','Morphological anomaly','Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.'),('498693','MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome','Disease','no definition available'),('498700','Limbic encephalitis with neurexin-3 antibodies','Disease','A rare non-paraneoplastic limbic encephalitis characterized by a severe but potentially treatable autoimmune encephalitis associated with autoantibodies against neurexin-3alpha. Patients present with prodromal fever, headache, or gastrointestinal symptoms, followed by rapid progression to confusion, seizures, and decreased level of consciousness. Mild orofacial dyskinesia, as well as life-threatening complications like central hypoventilation requiring respiratory support may develop in some patients.'),('499','Kerion celsi','Disease','A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.'),('499004','Tuberculous meningitis','Disease','A rare bacterial infectious disease caused by Mycobacterium tuberculosis, characterized by a variable clinical picture comprising classic manifestations of meningitis, i. e. headache, fever, and stiff neck, in addition to cranial nerve palsies (most commonly III, VI, and VII), altered mental status, and seizures, among others. Basal meningeal enhancement in neuroimaging, cerebrospinal fluid abnormalities (moderate lymphocytic pleocytosis, moderately elevated protein concentration, low glucose), and a chest x-ray suggestive of pulmonary tuberculosis may support the diagnosis.'),('499009','Congenital syphilis','Disease','A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson`s triad of Hutchinson`s teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.'),('499047','Autoimmune/inflammatory optic neuropathy','Clinical group','no definition available'),('499085','Chronic relapsing inflammatory optic neuropathy','Disease','no definition available'),('499096','Isolated optic neuritis','Disease','no definition available'),('499103','Recurrent idiopathic neuroretinitis','Disease','no definition available'),('499107','Idiopathic optic perineuritis','Disease','no definition available'),('499182','Pilomatrix carcinoma','Disease','no definition available'),('5','Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency','Disease','A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.'),('50','Aicardi syndrome','Disease','A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.'),('500','Noonan syndrome with multiple lentigines','Malformation syndrome','A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.'),('500055','16p13.2 microdeletion syndrome','Malformation syndrome','A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.'),('500062','Infantile-onset periodic fever-panniculitis-dermatosis syndrome','Disease','no definition available'),('500095','Tall stature-intellectual disability-renal anomalies syndrome','Malformation syndrome','no definition available'),('500135','Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome','Malformation syndrome','no definition available'),('500144','Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome','Malformation syndrome','no definition available'),('500150','Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay and intellectual disability associated with brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities and hypoplasia of the corpus callosum and cerebellar hemispheres), facial dysmorphisms (including facial asymmetry, midface retraction, deep-set eyes, downslanting palpebral fissures, low-set ears, broad and depressed nasal bridge, short philtrum) and musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity). Additional clinical manifestations include seizures, strabismus, vision loss, urogenital malformations, heart defects and short stature.'),('500159','Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom','Malformation syndrome','no definition available'),('500163','SIN3A-related intellectual disability syndrome','Malformation syndrome','no definition available'),('500166','SIN3A-related intellectual disability syndrome due to a point mutation','Etiological subtype','no definition available'),('500180','Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder','Disease','A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.'),('500188','X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('500464','Squamous cell carcinoma of the nasal cavity and paranasal sinuses','Disease','no definition available'),('500478','Squamous cell carcinoma of the oropharynx','Disease','no definition available'),('500481','Squamous cell carcinoma of salivary glands','Histopathological subtype','no definition available'),('500533','Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome','Disease','A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.'),('500545','Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract','Disease','A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.'),('500548','Osteosclerotic metaphyseal dysplasia','Malformation syndrome','no definition available'),('501','Lafora disease','Disease','Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.'),('502','Trichorhinophalangeal syndrome type 2','Malformation syndrome','A very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.'),('502305','Cochleovestibular dysplasia','Morphological anomaly','no definition available'),('502318','Cochlear nerve deficiency','Morphological anomaly','A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.'),('502363','Squamous cell carcinoma of the oral cavity','Disease','no definition available'),('502366','Squamous cell carcinoma of the lip','Disease','no definition available'),('502369','Squamous cell carcinoma of oral cavity and lip','Category','no definition available'),('502423','Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome','Disease','A rare genetic neurological disorder characterized by motor developmental delay (in infancy), growth impairment and muscle weakness associated with myopathic abnormalities on muscle biopsy and EMG, as well as tremor, dysmetry, adiadochokinesia and walking disturbances associated with global or partial cerebral atrophy on brain MRI (particularly cerebellar vermis and hemispheres), with or without mild intellectual disability. Some patients also show pigmentary retinopathy.'),('502430','Metopic ridging-ptosis-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('502434','STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome','Malformation syndrome','no definition available'),('502437','4q25 proximal deletion syndrome','Malformation syndrome','A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.'),('502444','Alkaline ceramidase 3 deficiency','Disease','no definition available'),('502499','Erythema multiforme major','Disease','no definition available'),('50251','Pleural mesothelioma','Disease','Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.'),('503','Larsen syndrome','Malformation syndrome','An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.'),('504','Creeping myiasis','Disease','A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.'),('504476','Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome','Disease','A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.'),('504523','Severe combined immunodeficiency due to LAT deficiency','Disease','no definition available'),('504530','Combined immunodeficiency due to Moesin deficiency','Disease','no definition available'),('505','Graham Little-Piccardi-Lassueur syndrome','Disease','A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.'),('505208','3-methylglutaconic aciduria type 8','Disease','no definition available'),('505216','3-methylglutaconic aciduria type 9','Disease','A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.'),('505227','Combined immunodeficiency due to GINS1 deficiency','Disease','no definition available'),('505237','Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome','Malformation syndrome','no definition available'),('505242','Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome','Disease','no definition available'),('505248','Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders','Malformation syndrome','no definition available'),('505395','Ventilator-induced diaphragmatic dysfunction','Particular clinical situation in a disease or syndrome','no definition available'),('505652','CDKL5-related epileptic encephalopathy','Disease','A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.'),('506','Leigh syndrome','Clinical group','A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.'),('506052','Neuroendocrine neoplasm of pancreas','Category','no definition available'),('506060','Functioning neuroendocrine tumor of pancreas','Category','no definition available'),('506075','Non-functioning neuroendocrine tumor of pancreas','Disease','no definition available'),('506090','Serotonin-producing neuroendocrine tumor of pancreas','Disease','no definition available'),('506098','Neuroendocrine carcinoma of pancreas','Disease','no definition available'),('506112','Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas','Disease','no definition available'),('506124','OBSOLETE: Neuroendocrine tumor of small intestine','Clinical group','no definition available'),('506136','Neuroendocrine neoplasm of esophagus','Disease','no definition available'),('506207','Rare disorder potentially indicated for transplant','Category','A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities.'),('506210','Rare disorder potentially indicated for liver transplant','Category','no definition available'),('506213','Rare disorder potentially indicated for kidney transplant','Category','no definition available'),('506216','Rare disorder potentially indicated for bowel transplant','Category','no definition available'),('506219','Rare disorder potentially indicated for hematopoietic stem cell transplant','Category','no definition available'),('506222','Rare disorder potentially indicated for lung transplant','Category','no definition available'),('506225','Rare disorder potentially indicated for heart transplant','Category','no definition available'),('506307','Stromme syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.'),('506334','Familial steroid-resistant nephrotic syndrome with adrenal insufficiency','Disease','no definition available'),('506353','Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction','Disease','A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.'),('506358','Gabriele-de Vries syndrome','Malformation syndrome','no definition available'),('506784','Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome','Clinical subtype','no definition available'),('507','Leishmaniasis','Disease','A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).'),('508','Leprechaunism','Malformation syndrome','Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.'),('50809','Talo-patello-scaphoid osteolysis','Malformation syndrome','Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.'),('508093','MEPAN syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.'),('50810','Microlissencephaly-micromelia syndrome','Malformation syndrome','Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.'),('50811','Lipodystrophy-intellectual disability-deafness syndrome','Disease','Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.'),('50812','Zellweger-like syndrome without peroxisomal anomalies','Disease','Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.'),('50814','Craniolenticulosutural dysplasia','Malformation syndrome','Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.'),('50815','Branchiogenic deafness syndrome','Malformation syndrome','Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.'),('50816','Spondylometaphyseal dysplasia with combined immunodeficiency','Disease','no definition available'),('50817','Duane anomaly-myopathy-scoliosis syndrome','Disease','Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.'),('50838','NON RARE IN EUROPE: Carpal tunnel syndrome','Disease','no definition available'),('50839','Cat-scratch disease','Disease','Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria Bartonella henselae, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).'),('508410','Familial intestinal malrotation','Morphological anomaly','no definition available'),('508476','Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome','Malformation syndrome','no definition available'),('508488','8q24.3 microdeletion syndrome','Malformation syndrome','A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.'),('508498','Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome','Malformation syndrome','no definition available'),('508501','Oral-facial-digital syndrome with short stature and brachymesophalangy','Malformation syndrome','no definition available'),('508512','Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome','Disease','no definition available'),('508523','Hyperphenylalaninemia due to DNAJC12 deficiency','Disease','A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.'),('508529','Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss','Disease','no definition available'),('508533','Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome','Disease','no definition available'),('508542','Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome','Disease','no definition available'),('509','Leptospirosis','Disease','Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.'),('50918','Kikuchi-Fujimoto disease','Disease','Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.'),('50920','OBSOLETE: Multiple fibroadenoma of the breast','Disease','no definition available'),('50942','Striate palmoplantar keratoderma','Disease','Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.'),('50943','Keratolytic winter erythema','Disease','Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.'),('50944','Schöpf-Schulz-Passarge syndrome','Disease','Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.'),('50945','Blomstrand lethal chondrodysplasia','Malformation syndrome','Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.'),('51','Aicardi-Goutières syndrome','Disease','An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.'),('510','Lesch-Nyhan syndrome','Disease','Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.'),('51013','OBSOLETE: Melanoma-pancreatic cancer syndrome','Disease','no definition available'),('51083','Familial short QT syndrome','Disease','A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.'),('51084','Torsade-de-pointes syndrome with short coupling interval','Disease','Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.'),('511','Maple syrup urine disease','Disease','A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.'),('51188','Ethylmalonic encephalopathy','Disease','Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.'),('512','Metachromatic leukodystrophy','Disease','A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive.'),('512017','Chronic lymphoproliferative disorder of natural killer cells','Disease','A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.'),('512034','Large granular lymphocyte leukemia','Clinical group','no definition available'),('51208','Formiminoglutamic aciduria','Disease','A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.'),('512103','Autosomal recessive epidermolytic ichthyosis','Disease','no definition available'),('512260','Congenital cerebellar ataxia due to RNU12 mutation','Disease','A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.'),('513','Acute lymphoblastic leukemia','Clinical group','A rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia.'),('513436','Autosomal recessive spastic paraplegia type 78','Disease','A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.'),('513456','Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome','Disease','no definition available'),('514','Acute monoblastic/monocytic leukemia','Disease','Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).'),('514352','Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome','Malformation syndrome','no definition available'),('514980','ATP13A2-related parkinsonism','Clinical group','no definition available'),('51577','Cobblestone lissencephaly','Clinical group','A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.'),('51608','Generalized arterial calcification of infancy','Disease','A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.'),('51636','WHIM syndrome','Disease','WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).'),('517','Acute myelomonocytic leukemia','Disease','A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated.'),('518','Acute megakaryoblastic leukemia','Disease','A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.'),('51890','Anterior cutaneous nerve entrapment syndrome','Disease','A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.'),('519','Acute myeloid leukemia','Clinical group','A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.'),('519264','Inflammatory/autoimmune disorder involving the lacrimal system','Category','no definition available'),('519266','Rare disorder of the ocular adnexa','Category','no definition available'),('519268','Rare disorder with ectropion','Category','no definition available'),('519270','Rare disorder with entropion','Category','no definition available'),('519272','Structural developmental eye defect','Category','no definition available'),('519274','Syndromic lacrimal system disorder','Category','no definition available'),('519276','Anterior segment developmental abnormality with extraocular manifestations','Category','no definition available'),('519278','Infective keratitis','Category','no definition available'),('519280','Rare conjunctivitis','Category','no definition available'),('519282','Rare corneal disorder','Category','no definition available'),('519284','Rare disorder of the anterior segment of the eye','Category','no definition available'),('519286','Rare disorder of the pupil','Category','no definition available'),('519288','Rare disorder with corneal involvement as a major feature','Category','no definition available'),('519290','Rare inflammatory/autoimmune corneal disorder','Category','no definition available'),('519292','Syndromic ectopia lentis','Category','no definition available'),('519294','Syndromic microspherophakia','Category','no definition available'),('519296','Rare disorder with pigmented sclera','Category','no definition available'),('519298','Rare scleral disorder','Category','no definition available'),('519300','Isolated chorioretinal dystrophy','Category','no definition available'),('519302','Isolated macular dystrophy','Category','no definition available'),('519304','Isolated vitreoretinopathy','Category','no definition available'),('519306','Isolated progressive inherited retinal disorder','Category','no definition available'),('519309','Rare choroidal disorder','Category','no definition available'),('519311','Rare disorder of the posterior segment of the eye','Category','no definition available'),('519313','Rare macular disorder','Category','no definition available'),('519315','Rare retinal disorder','Category','no definition available'),('519317','Rare retinal vasculopathy','Category','no definition available'),('519319','Isolated stationary inherited retinal disorder','Category','no definition available'),('519321','Syndromic chorioretinal dystrophy','Category','no definition available'),('519323','Syndromic macular dystrophy','Category','no definition available'),('519325','Syndromic inherited retinal disorder','Category','no definition available'),('519327','Syndromic vitreoretinopathy','Category','no definition available'),('519329','Rare disorder involving multiple structures of the eye','Category','no definition available'),('519331','Secondary early-onset glaucoma','Category','no definition available'),('519333','Congenital optic disc excavation','Category','no definition available'),('519335','OBSOLETE: Inflammatory/autoimmune optic neuropathy','Category','no definition available'),('519337','Disorder with optic nerve compression','Category','no definition available'),('519339','Pseudopapilledema','Category','no definition available'),('519341','Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature','Category','no definition available'),('519343','Rare ophthalmic disorder with cortical involvement','Category','no definition available'),('519345','Rare disorder with optic disc malformation','Category','no definition available'),('519347','Rare neuromuscular disorder with ocular motility/alignment anomaly','Category','no definition available'),('519349','Rare ophthalmic disorder with cranial nerve involvement','Category','no definition available'),('519351','Rare optic nerve disorder','Category','no definition available'),('519353','Rare trochlear nerve disorder','Category','no definition available'),('519355','Rare ocular motility/alignment disorder','Category','no definition available'),('519357','OBSOLETE: Syndromic malformation of the optic disc','Category','no definition available'),('519384','Congenital cystic eye','Morphological anomaly','no definition available'),('519386','Isolated congenital entropion','Morphological anomaly','no definition available'),('519388','Autosomal recessive anterior segment dysgenesis','Malformation syndrome','no definition available'),('519390','Isolated blepharochalasis','Disease','no definition available'),('519392','Isolated iridoschisis','Disease','no definition available'),('519394','Isolated microphakia','Morphological anomaly','no definition available'),('519396','Isolated microspherophakia','Morphological anomaly','no definition available'),('519398','Isolated foveal hypoplasia','Morphological anomaly','A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.'),('519400','Peripapillary staphyloma','Morphological anomaly','no definition available'),('519402','Isolated megalopapilla','Morphological anomaly','no definition available'),('519404','Optic disc pit','Morphological anomaly','no definition available'),('519406','Thygeson superficial punctate keratitis','Disease','no definition available'),('519408','Mooren ulcer','Disease','no definition available'),('519410','Terrien marginal degeneration','Disease','no definition available'),('519930','Fungal keratitis','Disease','no definition available'),('52','Alagille syndrome','Malformation syndrome','A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.'),('520','Acute promyelocytic leukemia','Disease','An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.'),('52022','Potocki-Shaffer syndrome','Malformation syndrome','Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).'),('52047','Braddock syndrome','Malformation syndrome','Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.'),('52054','Craniosynostosis-intracranial calcifications syndrome','Malformation syndrome','Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.'),('52055','Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome','Malformation syndrome','Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.'),('52056','Ulnar/fibula ray defect-brachydactyly syndrome','Malformation syndrome','Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.'),('520814','Rare disorder of the visual organs','Category','no definition available'),('520817','Isolated inherited retinal disorder','Category','no definition available'),('520820','Progressive external ophthalmoplegia','Category','no definition available'),('521','Chronic myeloid leukemia','Disease','Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.'),('521123','Radiation-induced plexopathy','Disease','A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.'),('521127','Osteoradionecrosis of the mandible','Disease','no definition available'),('521132','Radiation-induced disorder','Category','no definition available'),('521219','Mirizzi syndrome','Clinical syndrome','no definition available'),('521232','Genetic primary orthostatic disorder','Category','no definition available'),('521236','Primary orthostatic disorder','Category','no definition available'),('521258','Xq25 microduplication syndrome','Malformation syndrome','A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.'),('521268','OBSOLETE: SLC5A6-CDG','Disease','no definition available'),('521305','Proximal myopathy with focal depletion of mitochondria','Disease','A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.'),('521308','Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome','Malformation syndrome','no definition available'),('521390','Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.'),('521399','NON RARE IN EUROPE: Non rare obesity','Disease','no definition available'),('521406','Dystonia-parkinsonism-hypermanganesemia syndrome','Disease','A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.'),('521411','Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.'),('521414','Autosomal dominant Charcot-Marie-Tooth disease type 2DD','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.'),('521426','PLAA-associated neurodevelopmental disorder','Malformation syndrome','A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.'),('521432','Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome','Disease','A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.'),('521438','Congenital vertebral-cardiac-renal anomalies syndrome','Malformation syndrome','no definition available'),('521445','Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome','Malformation syndrome','no definition available'),('521450','LAMA5-related multisystemic syndrome','Disease','no definition available'),('52183','Premature chromosome condensation with microcephaly and intellectual disability','Malformation syndrome','no definition available'),('522037','Primary autoimmune enteropathy','Disease','no definition available'),('522043','Syndromic autoimmune enteropathy','Clinical group','no definition available'),('522077','Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome','Disease','A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.'),('522504','Rare genetic disorder of the visual organs','Category','no definition available'),('522506','Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature','Category','no definition available'),('522508','Rare genetic ophthalmic disorder with cortical involvement','Category','no definition available'),('522510','Rare genetic ophthalmic disorder with cranial nerve involvement','Category','no definition available'),('522512','Rare genetic optic nerve disorder','Category','no definition available'),('522514','Congenital optic disc excavation of genetic origin','Category','no definition available'),('522516','Rare genetic ocular motility/alignment disorder','Category','no definition available'),('522518','Rare genetic disorder with strabismus','Category','no definition available'),('522520','Syndromic genetic disorder with strabismus','Category','no definition available'),('522522','Rare genetic neuromuscular disorder with ocular motility/alignment anomaly','Category','no definition available'),('522524','Rare genetic disorder of the ocular adnexa','Category','no definition available'),('522526','Rare genetic palpebral disorder','Category','no definition available'),('522528','Rare genetic eyelid malposition disorder','Category','no definition available'),('522530','Rare genetic disorder with entropion','Category','no definition available'),('522532','Rare genetic disorder of the lacrimal apparatus','Category','no definition available'),('522534','Lacrimal drainage system anomaly of genetic origin','Category','no definition available'),('522536','Structural developmental eye defect of genetic origin','Category','no definition available'),('522538','Rare genetic disorder of the anterior segment of the eye','Category','no definition available'),('522540','Anterior segment developmental anomaly of genetic origin','Category','no definition available'),('522542','Rare genetic disorder with conjunctival involvement as a major feature','Category','no definition available'),('522544','Rare genetic conjunctivitis','Category','no definition available'),('522546','Rare genetic disorder with lens opacification','Category','no definition available'),('522548','Syndromic genetic cataract','Category','no definition available'),('522550','Lens size anomaly of genetic origin','Category','no definition available'),('522552','Lens position anomaly of genetic origin','Category','no definition available'),('522554','Syndromic genetic ectopia lentis','Category','no definition available'),('522556','Rare genetic corneal disorder','Category','no definition available'),('522558','Rare genetic disorder with corneal involvement as a major feature','Category','no definition available'),('522560','Genetic corneal dystrophy','Category','no definition available'),('522562','Genetic superficial corneal dystrophy','Category','no definition available'),('522564','Syndromic genetic keratoconus','Category','no definition available'),('522566','Rare genetic inflammatory/autoimmune corneal disorder','Category','no definition available'),('522568','Rare genetic disorder of the pupil','Category','no definition available'),('522570','Rare genetic disorder of the posterior segment of the eye','Category','no definition available'),('522572','Rare genetic retinal disorder','Category','no definition available'),('522574','Rare genetic macular disorder','Category','no definition available'),('522576','Rare genetic retinal vasculopathy','Category','no definition available'),('522578','Rare genetic disorder involving multiple structures of the eye','Category','no definition available'),('522580','Secondary early-onset glaucoma of genetic origin','Category','no definition available'),('522584','Rare genetic choroidal disorder','Category','no definition available'),('523','Hereditary leiomyomatosis and renal cell cancer','Disease','Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.'),('523000','Pediatric-onset glaucoma','Category','no definition available'),('52368','Mohr-Tranebjaerg syndrome','Disease','An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.'),('524','Li-Fraumeni syndrome','Disease','A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.'),('52416','Mantle cell lymphoma','Disease','Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone``.'),('52417','MALT lymphoma','Disease','MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.'),('52427','Retinitis punctata albescens','Disease','A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.'),('52428','Congenital muscular dystrophy type 1C','Disease','no definition available'),('52429','Branchiootic syndrome','Malformation syndrome','Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).'),('52430','Inclusion body myopathy with Paget disease of bone and frontotemporal dementia','Disease','Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.'),('525','Lichen planopilaris','Disease','A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.'),('52503','X-linked creatine transporter deficiency','Disease','X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.'),('52530','Pseudo-von Willebrand disease','Disease','Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.'),('525677','Genetic congenital malformation of the eye with glaucoma as a major feature','Category','no definition available'),('525731','Pediatric-onset Graves disease','Disease','no definition available'),('525738','Prepubertal anorexia nervosa','Disease','A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.'),('526','Liddle syndrome','Disease','A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.'),('52662','Rare teratologic disease','Category','no definition available'),('52688','Myelodysplastic syndrome','Clinical group','no definition available'),('527276','Encephalopathy due to mitochondrial and peroxisomal fission defect','Disease','A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.'),('527450','Severe myopia-generalized joint laxity-short stature syndrome','Malformation syndrome','no definition available'),('527468','Diaphragmatic hernia-short bowel-asplenia syndrome','Malformation syndrome','no definition available'),('527497','NKX6-2-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.'),('52759','Vasculitis','Category','Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease.'),('528','Berardinelli-Seip congenital lipodystrophy','Disease','Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).'),('528084','Non-specific syndromic intellectual disability','Disease','no definition available'),('528091','Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome','Disease','no definition available'),('528105','Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome','Disease','no definition available'),('528623','Hereditary angioedema with C1Inh deficiency','Disease','no definition available'),('528647','Hereditary angioedema with normal C1Inh','Disease','no definition available'),('528663','Acquired angioedema with C1Inh deficiency','Disease','no definition available'),('529','Roch-Leri mesosomatous lipomatosis','Disease','Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.'),('52901','Isolated follicle stimulating hormone deficiency','Disease','no definition available'),('529468','Monoclonal mast cell activation syndrome','Disease','no definition available'),('529574','Duane retraction syndrome with congenital deafness','Malformation syndrome','no definition available'),('529665','Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.'),('529799','Acute bilirubin encephalopathy','Clinical syndrome','A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.'),('529808','Chronic bilirubin encephalopathy','Clinical syndrome','A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.'),('529819','NON RARE IN EUROPE: Exfoliation syndrome','Disease','no definition available'),('529828','Enzalutamide toxicity','Particular clinical situation in a disease or syndrome','no definition available'),('529831','Letrozole toxicity','Particular clinical situation in a disease or syndrome','no definition available'),('529852','Combined hepatocellular carcinoma and cholangiocarcinoma','Disease','no definition available'),('529864','Secondary erythromelalgia','Disease','no definition available'),('52994','Orbital leiomyoma','Disease','Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.'),('529962','17q24.2 microdeletion syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.'),('529965','Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome','Malformation syndrome','no definition available'),('529970','Male infertility due to acephalic spermatozoa','Clinical subtype','no definition available'),('529974','Immune dysregulation with inflammatory bowel disease','Clinical group','no definition available'),('529977','Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome','Disease','no definition available'),('529980','Inflammatory bowel disease-recurrent sinopulmonary infections syndrome','Disease','no definition available'),('53','Albers-Schönberg osteopetrosis','Malformation syndrome','A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ``sandwich vertebrae`` (dense bands of sclerosis parallel to the vertebral endplates).'),('530','Lipoid proteinosis','Malformation syndrome','Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.'),('530033','Dermoid or epidermoid cyst of the central nervous system','Morphological anomaly','no definition available'),('530298','Progressive myoclonic epilepsy with neuroserpin inclusion bodies','Clinical subtype','no definition available'),('530303','Progressive dementia with neuroserpin inclusion bodies','Clinical subtype','no definition available'),('530313','PIK3CA-related overgrowth syndrome','Clinical group','no definition available'),('53035','Caroli disease','Malformation syndrome','Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.'),('530792','RELA fusion-positive ependymoma','Disease','A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.'),('530838','KRT1-related diffuse nonepidermolytic keratoderma','Disease','A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.'),('530849','Familial apolipoprotein A5 deficiency','Etiological subtype','no definition available'),('530983','Lamb-Shaffer syndrome','Disease','no definition available'),('530995','Mixed phenotype acute leukemia','Disease','no definition available'),('531','Miller-Dieker syndrome','Malformation syndrome','Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.'),('531151','9q21.13 microdeletion syndrome','Malformation syndrome','A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.'),('53271','Muenke syndrome','Malformation syndrome','Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.'),('53296','Familial cutaneous collagenoma','Disease','Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.'),('533','Listeriosis','Disease','A rare bacterial infectious disease caused by the foodborne pathogen Listeria monocytogenes, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child.'),('53347','Brody myopathy','Disease','A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.'),('53351','X-linked dystonia-parkinsonism','Disease','X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.'),('53372','Hereditary geniospasm','Disease','Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.'),('534','Oculocerebrorenal syndrome of Lowe','Malformation syndrome','A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.'),('535','Rare cutaneous lupus erythematosus','Clinical group','Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).'),('53540','Goldmann-Favre syndrome','Disease','Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).'),('535453','Familial lipase maturation factor 1 deficiency','Etiological subtype','no definition available'),('535458','Familial GPIHBP1 deficiency','Etiological subtype','no definition available'),('53583','Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity','Disease','A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.'),('536','Systemic lupus erythematosus','Disease','no definition available'),('536391','RASopathy','Clinical group','no definition available'),('536467','B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome','Clinical subtype','A rare subtype of spondylodysplastic Ehlers-Danlos syndrome characterized by short stature, variable degrees of muscle hypotonia, and bowing of limbs. Additional features include characteristic radiographic findings (like platyspondyly, anterior beak of vertebral body, short ilia, metaphyseal flaring, and generalized osteoporosis), skin hyperextensibility, soft and doughy skin, thin translucent skin, delayed motor and/or cognitive development, kyphoscoliosis, joint hypermobility (generalized or restricted to distal joints), characteristic craniofacial features (like midfacial hypoplasia, blue sclerae, frontal bossing, depressed nasal bridge, low‐set ears, micrognathia, abnormal dentition), joint contractures, ascending aortic aneurysm, and lung hypoplasia, among others. Molecular testing is obligatory to confirm the diagnosis.'),('536471','Spondylodysplastic Ehlers-Danlos syndrome','Disease','A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), soft, doughy, thin, hyperextensible skin, muscular hypotonia (ranging from congenitally severe to mild with later‐onset), pes planus/equinovarus/valgus and, more variably, osteopenia, delayed cognitive and motor development, and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.'),('536516','Myopathic Ehlers-Danlos syndrome','Disease','A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.'),('536532','Classical-like Ehlers-Danlos syndrome type 2','Disease','A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.'),('536545','Kyphoscoliotic Ehlers-Danlos syndrome','Disease','A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.'),('53689','Congenital chloride diarrhea','Disease','no definition available'),('53690','Congenital lactase deficiency','Disease','Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.'),('53691','Congenital cornea plana','Morphological anomaly','no definition available'),('53693','GRACILE syndrome','Disease','An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).'),('53696','Arthrogryposis-anterior horn cell disease syndrome','Malformation syndrome','no definition available'),('53697','Gnathodiaphyseal dysplasia','Malformation syndrome','Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.'),('53698','Hyaline body myopathy','Disease','no definition available'),('537','Toxic epidermal necrolysis','Clinical subtype','An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.'),('537072','PLG-related hereditary angioedema with normal C1Inh','Etiological subtype','no definition available'),('53715','Familial tumoral calcinosis','Disease','Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.'),('53719','Wyburn-Mason syndrome','Malformation syndrome','Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.'),('53721','Spinal arteriovenous metameric syndrome','Malformation syndrome','Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.'),('53739','Distal hereditary motor neuropathy','Clinical group','no definition available'),('537891','ANGPT1-related hereditary angioedema with normal C1Inh','Etiological subtype','no definition available'),('538','Lymphangioleiomyomatosis','Disease','Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).'),('538096','Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy','Disease','A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.'),('538101','Congenital axonal neuropathy with encephalopathy','Disease','A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.'),('538238','Neurological channelopathy of the central nervous system due to a genetic chloride channel defect','Category','no definition available'),('538574','Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome','Disease','A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.'),('538756','Familial multiple discoid fibromas','Disease','A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.'),('538863','Classic pyoderma gangrenosum','Clinical subtype','A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.'),('538866','Pustular pyoderma gangrenosum','Clinical subtype','no definition available'),('538869','Bullous pyoderma gangrenosum','Clinical subtype','A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.'),('538872','Vegetative pyoderma gangrenosum','Clinical subtype','A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.'),('538931','X-linked lymphoproliferative disease due to SH2D1A deficiency','Disease','A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.'),('538934','X-linked lymphoproliferative disease due to XIAP deficiency','Disease','A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn`s disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.'),('538958','Combined immunodeficiency due to CD70 deficiency','Disease','A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.'),('538963','Combined immunodeficiency due to ITK deficiency','Disease','no definition available'),('54','X-linked recessive ocular albinism','Disease','X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.'),('540','Familial hemophagocytic lymphohistiocytosis','Disease','Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.'),('54028','Plummer-Vinson syndrome','Disease','Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.'),('54057','Thrombotic thrombocytopenic purpura','Disease','Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).'),('541','Primary cutaneous CD30+ T-cell lymphoproliferative disease','Clinical group','no definition available'),('541423','Growth delay-intellectual disability-hepatopathy syndrome','Disease','A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.'),('541443','Anomalous aortic origin of the left coronary artery','Morphological anomaly','A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death at any age (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia.'),('541454','Anomalous aortic origin of the right coronary artery','Morphological anomaly','A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death at any age (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present.'),('541478','Anomalous aortic origin of coronary artery','Clinical group','A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed.'),('541507','Anomalous origin of coronary artery from the pulmonary artery','Morphological anomaly','A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed.'),('542','Primary cutaneous lymphoma','Category','Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.'),('542301','Severe combined immunodeficiency due to CARMIL2 deficiency','Disease','no definition available'),('542306','GNB5-related intellectual disability-cardiac arrhythmia syndrome','Disease','no definition available'),('542310','Leukoencephalopathy with calcifications and cysts','Disease','A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.'),('542323','CAR T cell therapy-associated cytokine release syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('54238','Myotonic dystrophy type 3','Disease','no definition available'),('54247','Posterior cortical atrophy','Disease','Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.'),('54251','Corticosteroid-sensitive aseptic abscess syndrome','Disease','Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.'),('542568','Quadricuspid aortic valve','Morphological anomaly','no definition available'),('542585','Auditory neuropathy-optic atrophy syndrome','Disease','A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.'),('542592','Necrobiosis lipoidica','Disease','no definition available'),('54260','Left ventricular noncompaction','Disease','Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.'),('542643','Livedoid vasculopathy','Clinical syndrome','no definition available'),('542657','Isolated hyperchlorhidrosis','Disease','no definition available'),('54272','Hepatocellular adenoma','Disease','Hepatocellular adenoma (HA) is a rare benign tumor of the liver.'),('542822','Anomaly of the coronary ostia','Clinical group','no definition available'),('543','Burkitt lymphoma','Disease','Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.'),('543470','Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome','Disease','no definition available'),('54368','Sarcocystosis','Disease','A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course.'),('54370','Primary membranoproliferative glomerulonephritis','Disease','Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes.'),('544','Diffuse large B-cell lymphoma','Clinical group','Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.'),('544254','SYNGAP1-related developmental and epileptic encephalopathy','Disease','A rare infantile epilepsy syndrome characterized by developmental delay or regression, intellectual disability, and epilepsy, which may present as eyelid myoclonia with absences, atypical and typical absences, myoclonic, atonic, myoclonic-atonic, or unclassified drop attacks, tonic-clonic seizures, or reflex seizures mostly triggered by eating. In some patients the eyelid myoclonia evolves to a drop attack. Other common features include behavioral problems, high pain threshold, hypotonia, eating and sleeping problems, autism spectrum disorder, and ataxia or gait abnormalities.'),('544458','Hemolytic uremic syndrome','Clinical group','no definition available'),('544469','PRUNE1-related neurological syndrome','Malformation syndrome','no definition available'),('544472','Atypical hemolytic uremic syndrome with complement gene abnormality','Etiological subtype','no definition available'),('544482','Infection-related hemolytic uremic syndrome','Disease','no definition available'),('544488','Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome','Disease','no definition available'),('544493','Streptococcus pneumoniae-associated hemolytic uremic syndrome','Clinical subtype','no definition available'),('544503','RNF13-related severe early-onset epileptic encephalopathy','Disease','A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.'),('544578','Congenital primary megaureter, refluxing and obstructed form','Clinical subtype','no definition available'),('544590','Collagen-related glomerular basement membrane disease','Category','no definition available'),('544602','Congenital myopathy with reduced type 2 muscle fibers','Disease','no definition available'),('544628','Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome','Disease','no definition available'),('545','Follicular lymphoma','Disease','Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.'),('54595','Craniopharyngioma','Disease','Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.'),('547','Non-Hodgkin lymphoma','Category','Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.'),('548','Leprosy','Disease','A chronic infectious disease affecting primarily the skin and peripheral nervous system.'),('549','Legionellosis','Disease','Legionellosis or Legionnaires` disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.'),('55','Oculocutaneous albinism','Clinical group','Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.'),('550','MELAS','Disease','MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.'),('551','MERRF','Disease','MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.'),('552','MODY','Disease','MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.'),('553','Cushing syndrome','Clinical group','Cushing`s syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.'),('555','NON RARE IN EUROPE: Celiac disease','Disease','no definition available'),('555402','NAD(P)HX dehydratase deficiency','Disease','no definition available'),('555407','NAD(P)HX epimerase deficiency','Disease','no definition available'),('555434','Fibrohistiocytic inflammatory pseudotumor of the liver','Clinical subtype','A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.'),('555437','Lymphoplasmacytic inflammatory pseudotumor of the liver','Clinical subtype','A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.'),('555874','Congenital tricuspid valve dysplasia','Morphological anomaly','no definition available'),('555877','FLNA-related X-linked myxomatous valvular dysplasia','Morphological anomaly','no definition available'),('555905','IgA pemphigus','Disease','A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.'),('55595','TNP03-related limb-girdle muscular dystrophy D2','Disease','A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.'),('55596','HNRNPDL-related limb-girdle muscular dystrophy D3','Disease','A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.'),('556','Malakoplakia','Disease','Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.'),('556030','Early-onset familial hypoaldosteronism','Clinical subtype','no definition available'),('556037','Late-onset familial hypoaldosteronism','Clinical subtype','no definition available'),('556508','Rare disorder due to poisoning','Category','no definition available'),('55654','Hypotrichosis simplex','Disease','Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.'),('55655','Pneumococcal meningitis','Disease','A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.'),('556955','Pancreatic agenesis-holoprosencephaly syndrome','Disease','no definition available'),('556985','Early-onset calcifying leukoencephalopathy-skeletal dysplasia','Disease','A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.'),('557','Isolated anorectal malformation','Clinical group','A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.'),('557003','Oculocerebrodental syndrome','Disease','no definition available'),('557056','Spastic ataxia-dysarthria due to glutaminase deficiency','Disease','A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.'),('557064','Neonatal epileptic encephalopathy due to glutaminase deficiency','Disease','A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.'),('557866','Rare disorder with Hirschsprung disease as a major feature','Category','no definition available'),('558','Marfan syndrome','Disease','Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.'),('558411','Idiopathic gastroparesis','Disease','A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition.'),('55880','Chondrosarcoma','Disease','Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.'),('55881','Adamantinoma','Disease','A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.'),('559','Marinesco-Sjögren syndrome','Disease','Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.'),('56','Alkaptonuria','Disease','A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).'),('560','Marshall syndrome','Malformation syndrome','A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.'),('56044','Carcinoma of gallbladder and extrahepatic biliary tract','Clinical group','Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.'),('561','Marshall-Smith syndrome','Malformation syndrome','Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.'),('561854','FOXG1 syndrome','Disease','no definition available'),('562','McCune-Albright syndrome','Disease','McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).'),('562509','Heme oxygenase-1 deficiency','Disease','no definition available'),('562528','Congenital limbs-face contractures-hypotonia-developmental delay syndrome','Malformation syndrome','no definition available'),('562538','Autosomal recessive extra-oral halitosis','Disease','no definition available'),('562559','Anterior maxillary protrusion-strabismus-intellectual disability syndrome','Malformation syndrome','no definition available'),('562569','TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome','Malformation syndrome','A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.'),('562639','Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome','Disease','no definition available'),('563','Peripartum cardiomyopathy','Disease','Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.'),('56304','Atelosteogenesis type II','Malformation syndrome','A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.'),('56305','Atelosteogenesis type III','Malformation syndrome','A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.'),('563576','Autoimmune hepatitis type 1','Clinical subtype','no definition available'),('563581','Autoimmune hepatitis type 2','Clinical subtype','no definition available'),('563589','Seronegative autoimmune hepatitis','Clinical subtype','no definition available'),('563609','Isolated anencephaly','Clinical subtype','no definition available'),('563612','Isolated exencephaly','Clinical subtype','no definition available'),('563666','Serous cystadenoma of childhood','Histopathological subtype','no definition available'),('563671','Mucinous cystadenoma of childhood','Histopathological subtype','no definition available'),('563676','Seromucinous cystadenoma of childhood','Histopathological subtype','no definition available'),('563684','Furuncular myiasis due to Dermatobia hominis','Clinical subtype','no definition available'),('563687','Furuncular myiasis due to Cordylobia anthropophaga','Clinical subtype','no definition available'),('563690','Furuncular myiasis due to Cordylobia rodhaini','Clinical subtype','no definition available'),('563708','Syndromic congenital sodium diarrhea','Disease','no definition available'),('563951','Isolated congenital aglossia','Clinical subtype','no definition available'),('563954','Isolated congenital hypoglossia','Clinical subtype','no definition available'),('563991','Osteochondrosis of the tarsal bone','Disease','no definition available'),('564','Meckel syndrome','Malformation syndrome','Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.'),('564003','Osteochondrosis of the metatarsal bone','Disease','no definition available'),('564127','Genetic nephrotic syndrome','Clinical group','no definition available'),('564178','Primary hypomagnesemia with refractory seizures and intellectual disability','Disease','no definition available'),('56425','Cold agglutinin disease','Disease','Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).'),('565','Menkes disease','Disease','Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.'),('565612','Triglyceride deposit cardiomyovasculopathy','Disease','no definition available'),('565624','Combined oxidative phosphorylation defect type 39','Disease','no definition available'),('565641','Primary desmosis coli','Disease','no definition available'),('565779','Rare disorder potentially indicated for transplant or complication after transplantation','Category','no definition available'),('565782','Methotrexate toxicity','Disease','no definition available'),('565788','Infantile inflammatory bowel disease with neurological involvement','Disease','no definition available'),('565837','Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23','Disease','no definition available'),('565858','Craniosynostosis-microretrognathia-severe intellectual disability syndrome','Malformation syndrome','no definition available'),('565899','POMGNT2-related limb-girdle muscular dystrophy R24','Disease','no definition available'),('565909','Calpain-3-related limb-girdle muscular dystrophy D4','Disease','no definition available'),('566','Congenital microcoria','Malformation syndrome','Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.'),('566067','CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome','Disease','no definition available'),('566175','Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome','Disease','no definition available'),('566192','Congenital autosomal recessive small-platelet thrombocytopenia','Disease','no definition available'),('566231','Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha','Disease','no definition available'),('566243','Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta','Disease','no definition available'),('566393','Acute mast cell leukemia','Clinical subtype','no definition available'),('566396','Chronic mast cell leukemia','Clinical subtype','no definition available'),('566841','Liver adenomatosis','Disease','no definition available'),('566847','Aprosencephaly/atelencephaly spectrum','Morphological anomaly','no definition available'),('566852','Atelencephaly','Clinical subtype','no definition available'),('566857','Aprosencephaly','Clinical subtype','no definition available'),('566862','Left sided atrial isomerism','Malformation syndrome','no definition available'),('566943','Mueller-Weiss syndrome','Disease','no definition available'),('567','22q11.2 deletion syndrome','Malformation syndrome','22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.'),('567502','B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome','Disease','no definition available'),('567544','Idiopathic non-lupus full-house nephropathy','Clinical syndrome','no definition available'),('567546','Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance','Clinical syndrome','no definition available'),('567548','Idiopathic steroid-resistant nephrotic syndrome','Clinical syndrome','no definition available'),('567550','Idiopathic multidrug-resistant nephrotic syndrome','Clinical subtype','no definition available'),('567552','Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy','Clinical subtype','no definition available'),('567554','Systemic disease with glomerulopathy as a major feature','Category','no definition available'),('567556','Genetic systemic disease with glomerulopathy as a major feature','Category','no definition available'),('567558','Non-genetic systemic disease with glomerulopathy as a major feature','Category','no definition available'),('567560','Systemic vasculitis associated with glomerulopathy','Category','no definition available'),('567562','Disorder with multisystemic involvement and glomerulopathy','Category','no definition available'),('567564','Nephrotic syndrome without extrarenal manifestations','Category','no definition available'),('567983','Parenteral nutrition-associated cholestasis','Particular clinical situation in a disease or syndrome','no definition available'),('568','Microphthalmia, Lenz type','Malformation syndrome','Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).'),('568041','Primary lymphedema without systemic or visceral involvement','Category','no definition available'),('568044','Primary lymphedema with systemic or visceral involvement','Category','no definition available'),('568047','Disorder with multisystemic involvement and primary lymphedema','Category','no definition available'),('568051','GJC2-related late-onset primary lymphedema','Disease','no definition available'),('568056','Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome','Disease','no definition available'),('568062','PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis','Disease','no definition available'),('568065','EPHB4-related lymphatic-related hydrops fetalis','Disease','no definition available'),('569','Familial or sporadic hemiplegic migraine','Disease','A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).'),('569164','Angiomatoid fibrous histiocytoma','Disease','no definition available'),('569248','Microcystic stromal tumor','Disease','no definition available'),('569274','Multiple mitochondrial dysfunctions syndrome type 5','Disease','no definition available'),('569290','Multiple mitochondrial dysfunctions syndrome type 6','Disease','no definition available'),('56965','Progressive bulbar paralysis of childhood','Disease','no definition available'),('56970','Human prion disease','Category','Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD; see this term) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease (see these terms). Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).'),('569816','CELSR1-related late-onset primary lymphedema','Disease','no definition available'),('569821','Congenital primary lymphedema of Gordon','Disease','no definition available'),('57','Glycogen storage disease due to aldolase A deficiency','Disease','Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.'),('570','Moebius syndrome','Disease','A very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.'),('570371','Transient antenatal Bartter syndrome','Clinical subtype','no definition available'),('570422','Galactose mutarotase deficiency','Disease','no definition available'),('570431','Idiopathic multicentric Castleman disease','Clinical subtype','no definition available'),('570438','HHV-8-associated multicentric Castleman disease','Clinical subtype','no definition available'),('570470','Ricin poisoning','Disease','no definition available'),('570491','QRSL1-related combined oxidative phosphorylation defect','Disease','no definition available'),('570762','Infective endocarditis','Disease','no definition available'),('57145','SUNCT syndrome','Disease','SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).'),('57146','Rare hepatic disease','Category','no definition available'),('57194','OBSOLETE: Aseptic osteitis','Disease','no definition available'),('57196','Medial condensing osteitis of the clavicle','Disease','no definition available'),('572','Immunodeficiency by defective expression of MHC class II','Disease','A rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.'),('572013','Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome','Malformation syndrome','no definition available'),('572333','Blepharophimosis-ptosis-epicanthus inversus syndrome plus','Malformation syndrome','no definition available'),('572354','Blepharophimosis-ptosis-epicanthus inversus syndrome type 1','Clinical subtype','no definition available'),('572361','Blepharophimosis-ptosis-epicanthus inversus syndrome type 2','Clinical subtype','no definition available'),('572385','Brachydactyly type B1','Clinical subtype','no definition available'),('572428','Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia','Disease','no definition available'),('572543','RFVT2-related riboflavin transporter deficiency','Clinical subtype','no definition available'),('572550','RFVT3-related riboflavin transporter deficiency','Clinical subtype','no definition available'),('572761','DONSON-related microcephaly-short stature-limb abnormalities spectrum','Malformation syndrome','no definition available'),('572768','Microcephaly-micromelia syndrome','Clinical subtype','no definition available'),('572773','Microcephaly-short stature-limb abnormalities syndrome','Clinical subtype','no definition available'),('572798','WARS2-related combined oxidative phosphorylation defect','Disease','no definition available'),('573','Monilethrix','Disease','A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.'),('573163','Pheochromocytoma-paraganglioma','Clinical group','A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.'),('573253','Split cord malformation type II','Clinical subtype','no definition available'),('573278','Split cord malformation','Morphological anomaly','no definition available'),('574','Monosomy 21','Malformation syndrome','Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.'),('574918','Predisposition to severe viral infection due to IRF7 deficiency','Disease','no definition available'),('574957','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency','Disease','no definition available'),('575','Muckle-Wells syndrome','Disease','Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).'),('575553','Cathepsin A-related arteriopathy-strokes-leukoencephalopathy','Disease','no definition available'),('576','Mucolipidosis type II','Disease','Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.'),('576074','Middle East respiratory syndrome','Disease','no definition available'),('576227','Complete atrioventricular septal defect without ventricular hypoplasia','Clinical subtype','no definition available'),('576232','Partial atrioventricular septal defect with ventricular hypoplasia','Clinical subtype','no definition available'),('576235','Partial atrioventricular septal defect without ventricular hypoplasia','Clinical subtype','no definition available'),('576242','Intermediate atrioventricular septal defect','Morphological anomaly','no definition available'),('576278','SATB2-associated syndrome','Malformation syndrome','no definition available'),('576283','SATB2-associated syndrome due to a pathogenic variant','Etiological subtype','no definition available'),('576349','NLRC4-related familial cold autoinflammatory syndrome','Disease','no definition available'),('576356','Sporadic human prion disease','Category','no definition available'),('576360','Acquired human prion disease','Category','no definition available'),('576370','Variant Creutzfeldt-Jakob disease','Disease','no definition available'),('576379','Iatrogenic Creutzfeldt-Jakob disease','Disease','no definition available'),('576742','Genetic hemolytic uremic syndrome','Category','no definition available'),('577','Mucolipidosis type III','Disease','A rare, inborn error of metabolism characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. Progressive hip dysplasia may cause bone pain and leads to waddling gait. Other features may include mild corneal clouding, carpal tunnel syndrome, cardiac valvular disease, mild coarsening of facial features, and mild intellectual disability.'),('57777','Cirrhotic cardiomyopathy','Disease','Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.'),('57782','Mazabraud syndrome','Malformation syndrome','Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.'),('578','Mucolipidosis type IV','Disease','Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.'),('579','Mucopolysaccharidosis type 1','Disease','Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.'),('58','Alexander disease','Disease','A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.'),('580','Mucopolysaccharidosis type 2','Disease','A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.'),('58017','Classic hairy cell leukemia','Disease','A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.'),('58040','Osteoblastoma','Disease','A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.'),('580572','Intraductal tubulopapillary neoplasm of pancreas','Disease','no definition available'),('580933','Lethal brain and heart developmental defects','Malformation syndrome','no definition available'),('580940','QRICH1-related intellectual disability-chondrodysplasia syndrome','Malformation syndrome','no definition available'),('580951','Punctate inner choroidopathy','Disease','no definition available'),('581','Mucopolysaccharidosis type 3','Disease','Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.'),('581271','Cramp-fasciculation syndrome','Disease','no definition available'),('582','Mucopolysaccharidosis type 4','Disease','Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.'),('58208','NON RARE IN EUROPE: Pericarditis','Disease','no definition available'),('58220','OBSOLETE: Microscopic colitis','Disease','no definition available'),('583','Mucopolysaccharidosis type 6','Disease','Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.'),('583097','Congenital infiltrating lipomatosis of the face','Disease','no definition available'),('583595','Serine biosynthesis pathway deficiency, infantile/juvenile form','Disease','no definition available'),('583602','Neu-laxova syndrome due to phosphoserine aminotransferase deficiency','Etiological subtype','no definition available'),('583607','Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency','Etiological subtype','no definition available'),('583612','Neu-laxova due to 3-phosphoserine phosphatase deficiency','Etiological subtype','no definition available'),('583856','Isolated splenic vein thrombosis','Disease','no definition available'),('583861','Isolated mesenteric vein thrombosis','Disease','no definition available'),('584','Mucopolysaccharidosis type 7','Disease','A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.'),('585','Multiple sulfatase deficiency','Disease','Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.'),('586','Cystic fibrosis','Disease','Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.'),('587','Muir-Torre syndrome','Disease','Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.'),('588','Muscle-eye-brain disease','Malformation syndrome','A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.'),('589','Myasthenia gravis','Disease','Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.'),('59','Allan-Herndon-Dudley syndrome','Disease','An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.'),('590','Congenital myasthenic syndrome','Disease','Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.'),('591','Furuncular myiasis','Disease','Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).'),('59135','Laing early-onset distal myopathy','Disease','Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.'),('59181','Sorsby pseudoinflammatory fundus dystrophy','Disease','Sorsby`s fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.'),('592','Macrophagic myofasciitis','Disease','no definition available'),('59298','Schilder disease','Disease','Schilder`s disease is a progressive demyelinating disorder of the central nervous system.'),('593','Myofibrillar myopathy','Category','Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.'),('59303','Neonatal ichthyosis-sclerosing cholangitis syndrome','Disease','Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.'),('59305','Gestational trophoblastic neoplasm','Clinical group','Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms).'),('59306','McLeod neuroacanthocytosis syndrome','Disease','McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington`s disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.'),('59315','Rhombencephalosynapsis','Malformation syndrome','A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated with variable clinical manifestations including developmental delay, ataxia, dysarthria, oculomotor abnormalities, seizures, and involuntary head movements, among others.'),('595','Centronuclear myopathy','Clinical group','A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.'),('596','X-linked centronuclear myopathy','Disease','A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.'),('597','Central core disease','Disease','Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.'),('598','Multiminicore myopathy','Disease','A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.'),('599','Distal myopathy','Category','Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.'),('6','3-methylcrotonyl-CoA carboxylase deficiency','Disease','3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.'),('60','Alpha-1-antitrypsin deficiency','Disease','A hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.'),('600','Vocal cord and pharyngeal distal myopathy','Disease','Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.'),('60014','Argyria','Disease','A rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).'),('60015','Enlarged parietal foramina','Malformation syndrome','Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.'),('60025','Pulmonary alveolar microlithiasis','Disease','no definition available'),('60026','Pulmonary nodular lymphoid hyperplasia','Disease','Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.'),('60030','Loeys-Dietz syndrome','Malformation syndrome','Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.'),('60032','Recurrent respiratory papillomatosis','Disease','Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive.'),('60033','Idiopathic bronchiectasis','Disease','Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).'),('60039','Pudendal neuralgia','Disease','A rare, acquired peripheral neuropathy disease characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus), aggravated by sitting and for which no organic cause can be found by imaging studies or laboratory tests. It is often associated with pelvic dysfunction.'),('60040','Megalencephaly-capillary malformation-polymicrogyria syndrome','Malformation syndrome','A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.'),('60041','Congenital heart block','Disease','Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.'),('602','GNE myopathy','Disease','GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.'),('603','Distal myopathy, Welander type','Disease','A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.'),('606','Proximal myotonic myopathy','Disease','A rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.'),('607','Nemaline myopathy','Clinical group','Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.'),('609','Tibial muscular dystrophy','Disease','Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.'),('61','Alpha-mannosidosis','Disease','An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.'),('610','Bethlem myopathy','Disease','Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.'),('611','Inclusion body myositis','Disease','Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.'),('612','Potassium-aggravated myotonia','Clinical group','Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms).'),('614','Thomsen and Becker disease','Disease','A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).'),('615','Familial atrial myxoma','Disease','Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.'),('616','Medulloblastoma','Disease','Medulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia.'),('617','Congenital primary megaureter','Morphological anomaly','Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.'),('618','Familial melanoma','Disease','Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.'),('619','NON RARE IN EUROPE: Primary ovarian failure','Disease','no definition available'),('62','Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.'),('620','Common mesentery','Morphological anomaly','no definition available'),('621','Hereditary methemoglobinemia','Disease','A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).'),('622','Homocystinuria without methylmalonic aciduria','Disease','Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).'),('623','NAME syndrome','Disease','no definition available'),('624','Familial multiple nevi flammei','Morphological anomaly','Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.'),('625','NON RARE IN EUROPE: Atypical mole','Disease','no definition available'),('626','Large congenital melanocytic nevus','Disease','A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.'),('627','Nance-Horan syndrome','Malformation syndrome','Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.'),('628','Diastrophic dwarfism','Disease','A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).'),('629','Short stature due to growth hormone qualitative anomaly','Clinical subtype','Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.'),('63','Alport syndrome','Disease','A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.'),('631','Non-acquired isolated growth hormone deficiency','Disease','no definition available'),('632','Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia','Clinical subtype','no definition available'),('63259','Iniencephaly','Morphological anomaly','Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.'),('63260','Craniorachischisis','Morphological anomaly','Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.'),('63261','HERNS syndrome','Malformation syndrome','no definition available'),('63269','Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis','Clinical subtype','no definition available'),('63273','Distal myopathy with posterior leg and anterior hand involvement','Disease','Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.'),('63275','Pemphigoid gestationis','Disease','A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruptioneruptions, affecting pregnant women typically during the second and third trimester. Skin eruptions may include erythematous papules and plaques, erythema multiforme-like or eczematous lesions, papulovesicles, and bullae, and typically affects the umbilicus, abdomen, and extremities.'),('633','Laron syndrome','Disease','Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.'),('634','Netherton syndrome','Disease','Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.'),('63440','Isolated oxycephaly','Morphological anomaly','Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.'),('63442','Angel-shaped phalango-epiphyseal dysplasia','Malformation syndrome','A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.'),('63443','Rare epithelial tumor of stomach','Category','no definition available'),('63446','Acrocapitofemoral dysplasia','Malformation syndrome','A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.'),('63454','Pattern dystrophy','Category','no definition available'),('63455','Paraneoplastic pemphigus','Disease','A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.'),('635','Neuroblastoma','Disease','Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.'),('636','Neurofibromatosis type 1','Disease','Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.'),('637','Neurofibromatosis type 2','Disease','Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.'),('638','Neurofibromatosis-Noonan syndrome','Malformation syndrome','Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).'),('63862','Schisis association','Malformation syndrome','Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.'),('639','Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG','Disease','Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.'),('63999','IgG4-related mediastinitis','Disease','no definition available'),('64','Alström syndrome','Disease','A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.'),('640','Hereditary neuropathy with liability to pressure palsies','Malformation syndrome','A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.'),('641','Multifocal motor neuropathy','Disease','Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.'),('642','Hereditary sensory and autonomic neuropathy type 4','Disease','A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.'),('64280','Childhood absence epilepsy','Disease','Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.'),('643','Giant axonal neuropathy','Disease','Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.'),('644','NARP syndrome','Disease','A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.'),('64542','Acrofacial dysostosis, Kennedy-Teebi type','Malformation syndrome','A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.'),('64545','Benign idiopathic neonatal seizures','Disease','A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.'),('646','Niemann-Pick disease type C','Disease','Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.'),('64686','Tolosa-Hunt syndrome','Disease','Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.'),('64692','Oroya fever','Disease','no definition available'),('64694','Trench fever','Disease','A rare bacterial infectious disease caused by the louse-borne bacterium Bartonella quintana and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.'),('647','Nijmegen breakage syndrome','Malformation syndrome','Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.'),('64720','Leiomyosarcoma','Disease','A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size.'),('64722','Granulomatous mastitis','Disease','A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.'),('64734','Iridocorneal endothelial syndrome','Disease','Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications'),('64738','NON RARE IN EUROPE: Non rare thrombophilia','Disease','no definition available'),('64739','Ovarian hyperstimulation syndrome','Disease','A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.'),('64740','NON RARE IN EUROPE: Recurrent acute pancreatitis','Disease','no definition available'),('64741','Pulmonary blastoma','Disease','A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ``blastema-like`` configuration that resembles an embryonic lung.'),('64742','Pleuropulmonary blastoma','Disease','no definition available'),('64743','Hepatoportal sclerosis','Disease','A rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.'),('64744','IgG4-related thyroid disease','Disease','A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.'),('64745','Pruritic urticarial papules and plaques of pregnancy','Disease','A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks.'),('64746','Autosomal dominant Charcot-Marie-Tooth disease type 2','Clinical group','no definition available'),('64747','X-linked Charcot-Marie-Tooth disease','Clinical group','A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.'),('64748','Dejerine-Sottas syndrome','Disease','A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.'),('64749','Charcot-Marie-Tooth disease type 4','Clinical group','A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.'),('64751','Hereditary motor and sensory neuropathy type 5','Disease','Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.'),('64752','Hereditary sensory and autonomic neuropathy type 5','Disease','A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.'),('64753','Spinocerebellar ataxia with axonal neuropathy type 2','Disease','A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.'),('64754','Nevus comedonicus syndrome','Disease','A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.'),('64755','Becker nevus syndrome','Disease','A rare, syndromic, benign, epidemal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.'),('648','Noonan syndrome','Malformation syndrome','A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.'),('649','Norrie disease','Malformation syndrome','A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.'),('65','Leber congenital amaurosis','Disease','Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.'),('650','LCAT deficiency','Disease','LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.'),('651','NON RARE IN EUROPE: Idiopathic infantile nystagmus','Disease','no definition available'),('652','Multiple endocrine neoplasia type 1','Disease','A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.'),('65250','Perineural cyst','Disease','A disorder that is characterized by the presence of cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.'),('65279','OBSOLETE: Lymphocytic colitis','Clinical subtype','no definition available'),('65282','Carvajal syndrome','Disease','A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.'),('65283','Timothy syndrome','Malformation syndrome','A multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.'),('65284','Biotin-thiamine-responsive basal ganglia disease','Disease','A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.'),('65285','Lhermitte-Duclos disease','Disease','A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.'),('65286','3q29 microdeletion syndrome','Malformation syndrome','A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.'),('65287','Beta-ureidopropionase deficiency','Disease','Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).'),('65288','Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome','Malformation syndrome','Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.'),('653','Multiple endocrine neoplasia type 2','Disease','A multiple endocrine neoplasia, a polyglandular cancer syndrome. There are two forms of MEN2: MEN2A and MEN2B.'),('654','Nephroblastoma','Disease','A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.'),('655','Nephronophthisis','Disease','A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, cystic renal disease and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.'),('656','Genetic steroid-resistant nephrotic syndrome','Disease','A rare disorder characterized by a nephrotic syndrome with often early onset.'),('65681','Vaginal atresia','Morphological anomaly','no definition available'),('65682','Benign recurrent intrahepatic cholestasis','Disease','Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).'),('65683','Isolated focal cortical dysplasia','Disease','Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.'),('65684','Monomelic amyotrophy','Disease','Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.'),('657','Congenital isolated hyperinsulinism','Clinical group','Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).'),('65720','Arthrogryposis-severe scoliosis syndrome','Malformation syndrome','Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.'),('65743','Autosomal dominant multiple pterygium syndrome','Malformation syndrome','A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.'),('65748','Multiple self-healing squamous epithelioma','Disease','Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.'),('65753','Charcot-Marie-Tooth disease type 1','Clinical group','Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.'),('65759','Carpenter syndrome','Malformation syndrome','Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.'),('65798','Goodman syndrome','Malformation syndrome','Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.'),('658','Non-histaminic angioedema','Clinical group','A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.'),('659','Mutilating palmoplantar keratoderma with periorificial keratotic plaques','Disease','Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.'),('660','Omphalocele','Morphological anomaly','A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.'),('661','Ondine syndrome','Disease','Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung`s disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.'),('662','Yellow nail syndrome','Disease','A rare, syndromic nail anomaly disease characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.'),('663','Mitochondrial DNA-related progressive external ophthalmoplegia','Disease','An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.'),('664','Ornithine transcarbamylase deficiency','Disease','A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.'),('665','Albright hereditary osteodystrophy','Disease','no definition available'),('66518','Short fifth metacarpals-insulin resistance syndrome','Disease','Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.'),('66529','Tako-Tsubo cardiomyopathy','Disease','A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger however, recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS).'),('666','Osteogenesis imperfecta','Disease','Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.'),('66624','PANDAS','Disease','PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.'),('66625','Cerebrooculonasal syndrome','Malformation syndrome','Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.'),('66627','Pigmented villonodular synovitis','Disease','Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.'),('66628','Obesity due to congenital leptin deficiency','Etiological subtype','Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.'),('66629','Goldberg-Shprintzen megacolon syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).'),('66630','Congenital pseudoarthrosis of the clavicle','Disease','Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.'),('66631','CEDNIK syndrome','Disease','CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.'),('66633','Sensorineural hearing loss-early graying-essential tremor syndrome','Malformation syndrome','Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.'),('66634','Dilated cardiomyopathy with ataxia','Disease','Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.'),('66637','Diaphanospondylodysostosis','Malformation syndrome','Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.'),('66646','Cutaneous mastocytosis','Clinical group','Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis (see this term).'),('66661','Mast cell sarcoma','Disease','Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.'),('66662','Extracutaneous mastocytoma','Disease','no definition available'),('667','Autosomal recessive malignant osteopetrosis','Malformation syndrome','Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.'),('668','Osteosarcoma','Disease','Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.'),('669','OBSOLETE: Otopalatodigital syndrome','Malformation syndrome','no definition available'),('67','Amoebiasis due to Entamoeba histolytica','Disease','A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.'),('670','PIBIDS syndrome','Disease','no definition available'),('67036','Autosomal dominant optic atrophy and cataract','Disease','A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).'),('67037','OBSOLETE: Squamous cell carcinoma of head and neck','Disease','no definition available'),('67038','B-cell chronic lymphocytic leukemia','Disease','B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.'),('67039','Segmental odontomaxillary dysplasia','Disease','Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.'),('67041','Hyaluronidase deficiency','Disease','no definition available'),('67042','Late-onset retinal degeneration','Disease','Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.'),('67043','Amoebic keratitis','Disease','A rare corneal infection due to the protozoan Acanthamoeba that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.'),('67044','Thrombocytopenia with congenital dyserythropoietic anemia','Disease','Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.'),('67045','X-linked intellectual disability with isolated growth hormone deficiency','Clinical subtype','no definition available'),('67046','3-methylglutaconic aciduria type 1','Disease','3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.'),('67047','3-methylglutaconic aciduria type 3','Disease','3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.'),('67048','3-methylglutaconic aciduria type 4','Disease','3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).'),('671','Primary cutis verticis gyrata','Clinical group','A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.'),('672','Pallister-Hall syndrome','Malformation syndrome','Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.'),('673','Malaria','Disease','A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.'),('674','Accessory pancreas','Morphological anomaly','A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.'),('675','Annular pancreas','Morphological anomaly','A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.'),('676','Hereditary chronic pancreatitis','Disease','A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.'),('677','Pancreatoblastoma','Disease','A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.'),('678','Papillon-Lefèvre syndrome','Disease','Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.'),('679','Malignant atrophic papulosis','Disease','Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.'),('68','Amoebiasis due to free-living amoebae','Disease','A rare parasitic disease caused by free-living amoebae belonging to the Acanthamoeba, Naegleria and Balamuthia genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals Acanthamoeba genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the Balamuthia genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the Naegleria fowleri species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal.'),('680','Normokalemic periodic paralysis','Disease','no definition available'),('681','Hypokalemic periodic paralysis','Disease','A rare disorder characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.'),('682','Hyperkalemic periodic paralysis','Disease','A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.'),('683','Progressive supranuclear palsy','Disease','A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.'),('68329','Rare maxillo-facial surgical disease','Category','no definition available'),('68334','Rare hemorrhagic disorder due to a constitutional coagulation factors defect','Category','no definition available'),('68335','Rare chromosomal anomaly','Category','no definition available'),('68336','Rare genetic tumor','Category','no definition available'),('68341','Multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('68346','Rare genetic skin disease','Category','no definition available'),('68347','Tumor of hematopoietic and lymphoid tissues','Category','no definition available'),('68354','Rare sleep disorder','Category','no definition available'),('68356','Leukodystrophy','Category','no definition available'),('68361','Rare deafness','Category','no definition available'),('68362','Rare vascular disease','Category','no definition available'),('68363','Rare dystonia','Category','no definition available'),('68364','Hemoglobinopathy','Category','no definition available'),('68366','Lysosomal disease','Category','no definition available'),('68367','Rare inborn errors of metabolism','Category','no definition available'),('68373','Peroxisomal disease','Category','no definition available'),('68378','Congenital limb malformation','Category','no definition available'),('68380','Mitochondrial disease','Category','no definition available'),('68381','Neuromuscular disease','Category','no definition available'),('68383','Rare constitutional aplastic anemia','Category','no definition available'),('68385','Neurometabolic disease','Category','no definition available'),('68388','OBSOLETE: Neurofibromatosis','Clinical group','no definition available'),('684','Paramyotonia congenita of Von Eulenburg','Disease','Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).'),('68402','Rare parkinsonian disorder','Category','no definition available'),('68411','Rare bone tumor','Category','no definition available'),('68415','Rare parathyroid disease and phosphocalcic metabolism anomaly','Category','no definition available'),('68416','Rare infectious disease','Category','no definition available'),('68419','Vascular anomaly or angioma','Category','no definition available'),('685','Hereditary spastic paraplegia','Clinical group','A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.'),('69','Amyloidosis','Category','A vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved.'),('69028','Dysostosis with brachydactyly','Category','Brachydactyly (`short digits`) is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.'),('69061','Idiopathic steroid-sensitive nephrotic syndrome','Clinical syndrome','Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.'),('69063','Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization','Disease','A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.'),('69076','Familial renal glucosuria','Disease','A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.'),('69077','Rhabdoid tumor','Disease','Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).'),('69078','Liposarcoma','Disease','Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.'),('69082','Odonto-tricho-ungual-digito-palmar syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.'),('69083','Ectodermal dysplasia with natal teeth, Turnpenny type','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.'),('69084','Pure hair and nail ectodermal dysplasia','Malformation syndrome','Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.'),('69085','Limb-mammary syndrome','Malformation syndrome','Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.'),('69087','Naegeli-Franceschetti-Jadassohn syndrome','Disease','Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.'),('69088','Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome','Disease','This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.'),('69125','Anonychia with flexural pigmentation','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.'),('69126','Pyogenic arthritis-pyoderma gangrenosum-acne syndrome','Disease','Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.'),('69127','NON RARE IN EUROPE: Immunoglobulin A deficiency','Disease','no definition available'),('69663','Low phospholipid-associated cholelithiasis','Disease','Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.'),('69665','Intrahepatic cholestasis of pregnancy','Disease','Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.'),('69723','Tyrosinemia type 3','Disease','Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.'),('69735','Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome','Disease','Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.'),('69736','Bilateral acute depigmentation of the iris','Disease','Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.'),('69737','Bosley-Salih-Alorainy syndrome','Malformation syndrome','Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.'),('69739','Athabaskan brainstem dysgenesis syndrome','Disease','A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.'),('69744','Circumscribed palmoplantar hypokeratosis','Disease','Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.'),('69745','Warty dyskeratoma','Disease','A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.'),('699','Pearson syndrome','Disease','Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.'),('7','3C syndrome','Malformation syndrome','Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).'),('70','Proximal spinal muscular atrophy','Disease','Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('700','Alopecia totalis','Disease','A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.'),('701','Alopecia universalis','Disease','A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.'),('702','Pelizaeus-Merzbacher disease','Disease','Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).'),('703','Bullous pemphigoid','Disease','A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.'),('704','Pemphigus vulgaris','Disease','A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.'),('70470','OBSOLETE: Hyperlipoproteinemia type 5','Disease','no definition available'),('70472','Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type','Disease','Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.'),('70474','Leigh syndrome with cardiomyopathy','Disease','no definition available'),('70475','Radiation proctitis','Disease','Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.'),('70476','Vernal keratoconjunctivitis','Disease','A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys.'),('70482','Carcinoma of esophagus','Clinical group','Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).'),('705','Pendred syndrome','Malformation syndrome','A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.'),('70567','Cholangiocarcinoma','Disease','Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.'),('70568','Post-transplant lymphoproliferative disease','Disease','Post-transplant lymphoproliferative disease (PTLD) describes a heterogeneous group of lymphoproliferative diseases occurring in the context of post-transplant immunosuppression and ranging from benign polyclonal B-cell proliferation to malignant lymphomas.'),('70573','Small cell lung cancer','Disease','Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.'),('70578','Adult acute respiratory distress syndrome','Disease','A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.'),('70587','Infant acute respiratory distress syndrome','Disease','Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.'),('70588','Meconium aspiration syndrome','Disease','Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.'),('70589','Bronchopulmonary dysplasia','Malformation syndrome','Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.'),('70590','Infantile apnea','Disease','Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.'),('70591','Chronic thromboembolic pulmonary hypertension','Disease','Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.'),('70592','Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency','Disease','Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.'),('70593','Immunodeficiency due to selective anti-polysaccharide antibody deficiency','Disease','Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).'),('70594','Dopa-responsive dystonia due to sepiapterin reductase deficiency','Disease','Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.'),('70595','Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome','Disease','Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.'),('70596','Congenital Epstein-Barr virus infection','Disease','Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.'),('706','NON RARE IN EUROPE: Patent arterial duct','Morphological anomaly','no definition available'),('707','Plague','Disease','Plague is a severe bacterial infection caused by the Gram-negative bacterium Yersinia pestis.'),('708','Peters anomaly','Morphological anomaly','Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.'),('709','Peters plus syndrome','Malformation syndrome','Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.'),('71','Chylomicron retention disease','Disease','Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.'),('710','Pfeiffer syndrome','Malformation syndrome','An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.'),('711','Glycogen storage disease due to phosphoglucomutase deficiency','Disease','no definition available'),('71198','Rare pulmonary hypertension','Category','no definition available'),('712','Hemolytic anemia due to glucophosphate isomerase deficiency','Disease','Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.'),('71202','Rare hemorrhagic disorder due to a constitutional platelet anomaly','Category','no definition available'),('71203','Autoimmune thrombocytopenia','Clinical group','no definition available'),('71209','Rare soft tissue tumor','Category','no definition available'),('71211','Neuromyelitis optica','Disease','Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.'),('71212','Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency','Disease','Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.'),('71213','Retinal capillary malformation','Disease','Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.'),('71267','Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome','Malformation syndrome','A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.'),('71269','OBSOLETE: Benign exophthalmos syndrome','Disease','no definition available'),('71270','OBSOLETE: Auriculoocular anomalies-cleft lip syndrome','Malformation syndrome','no definition available'),('71271','Split hand-split foot-deafness syndrome','Malformation syndrome','Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.'),('71272','Sandifer syndrome','Disease','Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.'),('71273','Renal nutcracker syndrome','Disease','A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.'),('71274','Disseminated peritoneal leiomyomatosis','Disease','Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.'),('71275','Rh deficiency syndrome','Disease','no definition available'),('71276','Silent sinus syndrome','Disease','Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.'),('71277','Classic glucose transporter type 1 deficiency syndrome','Disease','Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.'),('71278','Congenital brain dysgenesis due to glutamine synthetase deficiency','Disease','A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.'),('71279','CANOMAD syndrome','Disease','A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.'),('71281','Rare central nervous system and retinal vascular disease','Category','no definition available'),('71289','Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome','Malformation syndrome','Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).'),('71290','Familial platelet disorder with associated myeloid malignancy','Disease','A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.'),('71291','Hereditary vascular retinopathy','Disease','no definition available'),('713','Glycogen storage disease due to phosphoglycerate kinase 1 deficiency','Disease','A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.'),('714','Hemolytic anemia due to diphosphoglycerate mutase deficiency','Disease','no definition available'),('71493','Familial thrombocytosis','Disease','Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.'),('715','Glycogen storage disease due to muscle phosphorylase kinase deficiency','Disease','Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.'),('71505','Cancer-associated retinopathy','Disease','Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.'),('71516','OBSOLETE: Mixed dystonia','Clinical group','no definition available'),('71517','Rapid-onset dystonia-parkinsonism','Disease','Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.'),('71518','Benign paroxysmal torticollis of infancy','Disease','A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood.'),('71519','Psychogenic movement disorders','Clinical syndrome','A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder.'),('71526','Obesity due to pro-opiomelanocortin deficiency','Etiological subtype','Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.'),('71528','Obesity due to prohormone convertase I deficiency','Etiological subtype','Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.'),('71529','Obesity due to melanocortin 4 receptor deficiency','Etiological subtype','Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.'),('716','Phenylketonuria','Disease','Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.'),('717','OBSOLETE: Catecholamine-producing tumor','Category','no definition available'),('718','Isolated Pierre Robin syndrome','Malformation syndrome','A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.'),('71859','Rare genetic neurological disorder','Category','no definition available'),('71862','Inherited retinal disorder','Category','no definition available'),('71864','Muscular channelopathy','Category','no definition available'),('719','OBSOLETE: Pili canulati','Disease','no definition available'),('72','Angelman syndrome','Malformation syndrome','A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.'),('720','Pili bifurcati','Disease','An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.'),('721','Gray platelet syndrome','Disease','Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.'),('722','Hypoplasminogenemia','Disease','Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.'),('723','Pneumocystosis','Disease','Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.'),('724','Idiopathic acute eosinophilic pneumonia','Disease','Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.'),('725','Continuous spikes and waves during sleep','Disease','Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.'),('726','Alpers-Huttenlocher syndrome','Disease','A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.'),('727','Microscopic polyangiitis','Disease','Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.'),('728','Relapsing polychondritis','Disease','A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.'),('729','Polycythemia vera','Disease','Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.'),('73','Gorham-Stout disease','Malformation syndrome','Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.'),('730','Autosomal dominant polycystic kidney disease','Disease','no definition available'),('73014','Intractable diarrhea of infancy','Category','Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.'),('731','Autosomal recessive polycystic kidney disease','Disease','A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.'),('732','Polymyositis','Disease','A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.'),('73217','Müllerian aplasia','Clinical group','no definition available'),('73220','X-linked intellectual disability-hypotonic face syndrome','Clinical group','Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.'),('73223','Global developmental delay-osteopenia-ectodermal defect syndrome','Malformation syndrome','This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.'),('73224','Tubular renal disease-cardiomyopathy syndrome','Disease','Tubular renal disease-cardiomyopathy syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.'),('73229','HANAC syndrome','Disease','A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.'),('73230','Ossification anomalies-psychomotor developmental delay syndrome','Disease','Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.'),('73245','Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome','Malformation syndrome','Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome is characterised by infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes.'),('73246','Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome','Malformation syndrome','Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).'),('73247','Eosinophilic esophagitis','Disease','A rare chronic, local immune-mediated disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including, dysphagia, feeding disorders, food impaction, vomiting and abdominal pain) and histologically by eosinophil-predominant inflammation in esophageal biopsies.'),('73256','Central neurocytoma','Disease','Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.'),('73260','Paracoccidioidomycosis','Disease','A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison`s disease. The infectious agent, Paracoccidioides brasiliensis, is a fungus limited to Latin America.'),('73263','Zygomycosis','Disease','A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.'),('73267','Non-24-hour sleep-wake syndrome','Disease','Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.'),('73271','Bleeding diathesis due to a collagen receptor defect','Disease','Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.'),('73272','Growth delay due to insulin-like growth factor type 1 deficiency','Disease','Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.'),('73273','Growth delay due to insulin-like growth factor I resistance','Disease','Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).'),('73274','Acquired hemophilia','Disease','A rare hemorrhagic disorder due to an acquired coagulation factor defect characterized by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucuous membrane hemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or urogenital bleeding, spontaneous bruising, melena, and hematuria.'),('733','Familial adenomatous polyposis','Disease','Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.'),('734','Alpha delta granule deficiency','Disease','no definition available'),('73423','Acute ackee fruit intoxication','Disease','A rare disease caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.'),('735','Porokeratosis of Mibelli','Disease','Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.'),('736','Palmoplantar porokeratosis of Mantoux','Disease','no definition available'),('737','Porokeratosis plantaris palmaris et disseminata','Disease','Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.'),('738','Porphyria','Clinical group','Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.'),('739','Prader-Willi syndrome','Disease','A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.'),('74','Angiostrongyliasis','Disease','A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.'),('740','Hutchinson-Gilford progeria syndrome','Disease','Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).'),('741','Familial mitral valve prolapse','Morphological anomaly','no definition available'),('742','Prolidase deficiency','Disease','Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.'),('743','Severe hereditary thrombophilia due to congenital protein S deficiency','Disease','An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.'),('744','Proteus syndrome','Malformation syndrome','Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.'),('745','Severe hereditary thrombophilia due to congenital protein C deficiency','Disease','Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.'),('746','Mitochondrial trifunctional protein deficiency','Disease','A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..'),('747','Autoimmune pulmonary alveolar proteinosis','Disease','Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).'),('748','Mendelian susceptibility to mycobacterial diseases','Clinical group','Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.'),('749','Congenital prekallikrein deficiency','Disease','no definition available'),('750','Pseudoachondroplasia','Disease','Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.'),('751','NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency','Disease','no definition available'),('75110','Myiasis','Category','no definition available'),('752','46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency','Disease','17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.'),('75233','Wolman disease','Clinical subtype','A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.'),('75234','Cholesteryl ester storage disease','Clinical subtype','A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.'),('75249','Familial isolated restrictive cardiomyopathy','Disease','A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.'),('753','46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency','Disease','46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.'),('75325','Osteosclerosis-ichthyosis-premature ovarian failure syndrome','Disease','This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.'),('75326','Retinal arterial tortuosity','Disease','no definition available'),('75327','North Carolina macular dystrophy','Disease','North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.'),('75373','Progressive bifocal chorioretinal atrophy','Disease','Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.'),('75374','Bradyopsia','Disease','Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.'),('75376','Familial drusen','Disease','A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.'),('75377','Central areolar choroidal dystrophy','Disease','Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.'),('75378','Oligocone trichromacy','Disease','A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.'),('75381','Cystoid macular dystrophy','Disease','Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.'),('75382','Oguchi disease','Malformation syndrome','Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.'),('75389','Brain malformation-congenital heart disease-postaxial polydactyly syndrome','Malformation syndrome','Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.'),('75391','Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency','Disease','The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.'),('75392','Periodontal Ehlers-Danlos syndrome','Disease','Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.'),('754','Androgen insensitivity syndrome','Clinical group','A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).'),('75496','B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome','Clinical subtype','A rare subtype of spondylodysplastic Ehlers-Danlos syndrome characterized by short stature, variable degrees of muscle hypotonia, and bowing of limbs. Additional features include characteristic radiographic findings (like radio-ulnar synostosis, metaphyseal flaring, osteopenia, radial head subluxation or dislocation, and short clavicles with broad medial ends), skin hyperextensibility, soft and doughy skin, thin translucent skin, delayed motor and/or cognitive development, generalized joint hypermobility, characteristic craniofacial features (like triangular or flat face, wide‐spaced eyes, proptosis, narrow mouth, low‐set ears, sparse scalp hair, abnormal dentition, and wide forehead), and ocular abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.'),('75497','X-linked Ehlers-Danlos syndrome','Disease','A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.'),('755','Leydig cell hypoplasia','Disease','A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.'),('75501','OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type','Disease','no definition available'),('75508','Angioosteohypotrophic syndrome','Malformation syndrome','A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.'),('75563','X-linked sideroblastic anemia','Disease','X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.'),('75564','Acquired idiopathic sideroblastic anemia','Disease','A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.'),('75565','Tropical endomyocardial fibrosis','Disease','Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.'),('75566','Loeffler endocarditis','Disease','Loeffler`s endocarditis is a rare restrictive cardiomyopathy (see this term) characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia (see these terms), carcinoma, or lymphoma.'),('75567','Primary progressive freezing gait','Clinical syndrome','Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.'),('756','Pseudohypoaldosteronism type 1','Disease','Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.'),('757','Pseudohypoaldosteronism type 2','Disease','A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).'),('75789','SIBIDS syndrome','Disease','no definition available'),('75790','Pollitt syndrome','Malformation syndrome','no definition available'),('758','Pseudoxanthoma elasticum','Disease','Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.'),('75840','Congenital muscular dystrophy, Ullrich type','Disease','Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.'),('75857','6q terminal deletion syndrome','Malformation syndrome','6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.'),('75858','MORM syndrome','Disease','MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.'),('759','Central precocious puberty','Disease','Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).'),('76','Strongyloidiasis','Disease','A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).'),('760','Purine nucleoside phosphorylase deficiency','Disease','A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.'),('761','Immunoglobulin A vasculitis','Disease','Schönlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.'),('763','Pycnodysostosis','Disease','Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.'),('764','Pyomyositis','Disease','Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.'),('765','Pyruvate dehydrogenase deficiency','Disease','Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).'),('766','Hemolytic anemia due to red cell pyruvate kinase deficiency','Disease','Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.'),('767','Polyarteritis nodosa','Disease','Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.'),('768','Familial long QT syndrome','Clinical group','Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.'),('769','Rabson-Mendenhall syndrome','Malformation syndrome','A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).'),('77','OBSOLETE: Aniridia','Category','no definition available'),('770','Rabies','Disease','Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.'),('771','NON RARE IN EUROPE: Ulcerative colitis','Disease','no definition available'),('772','Infantile Refsum disease','Disease','Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).'),('77240','Primary lymphedema','Category','Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.'),('77241','OBSOLETE: Lymphedema praecox','Malformation syndrome','no definition available'),('77242','OBSOLETE: Lymphedema tarda','Disease','no definition available'),('77243','Lipedema','Disease','A rare genetic subcutaneous tissue disorder almost exclusively occurring in females, characterized by abnormal symmetrical deposition of subcutaneous fat in the lower extremities, beginning at the hips and extending to the ankles, but typically sparing the feet. The condition is accompanied by pain and easy bruising in the affected areas.'),('77258','Trichorhinophalangeal syndrome type 1 and 3','Malformation syndrome','Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.'),('77259','Gaucher disease type 1','Clinical subtype','Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.'),('77260','Gaucher disease type 2','Clinical subtype','Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.'),('77261','Gaucher disease type 3','Clinical subtype','Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).'),('77292','Niemann-Pick disease type A','Disease','Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.'),('77293','Niemann-Pick disease type B','Disease','Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea'),('77295','Odontoleukodystrophy','Clinical subtype','no definition available'),('77296','Morgagni-Stewart-Morel syndrome','Malformation syndrome','Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.'),('77297','Majeed syndrome','Disease','Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.'),('77298','Anophthalmia/microphthalmia-esophageal atresia syndrome','Malformation syndrome','A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.'),('77299','Microphthalmia-brain atrophy syndrome','Malformation syndrome','Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.'),('773','Refsum disease','Disease','A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.'),('77300','Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome','Malformation syndrome','The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.'),('77301','Monosomy 9q22.3','Malformation syndrome','Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.'),('77302','Oculo-oto-facial dysplasia','Malformation syndrome','no definition available'),('77303','OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect','Etiological subtype','no definition available'),('77304','OBSOLETE: Not NOTCH3-related small vessel disease of the brain','Disease','no definition available'),('774','Hereditary hemorrhagic telangiectasia','Disease','An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.'),('775','OBSOLETE: X-linked intellectual disability, Martinez type','Malformation syndrome','no definition available'),('776','X-linked intellectual disability with marfanoid habitus','Malformation syndrome','The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.'),('777','X-linked non-syndromic intellectual disability','Etiological subtype','no definition available'),('778','Rett syndrome','Disease','A rare genetic neurological disorder almost exclusively affecting females, characterized by rapid developmental regression in infancy with loss of purposeful hand movements, loss of speech, gait abnormalities, and repetitive stereotypic hand movements. Commonly associated are severe intellectual disability, microcephaly, seizures, breathing abnormalities, disturbed sleeping patterns, scoliosis, and impaired social interactions or social withdrawal, among other symptoms. The disease progresses in stages, with late motor deterioration eventually leading to decreased mobility, muscle weakness, rigidity, spasticity, and dystonia.'),('77828','Genetic obesity','Category','no definition available'),('77830','Rare genetic odontologic disease','Category','no definition available'),('779','Reynolds syndrome','Disease','Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).'),('78','Ankylostomiasis','Disease','A hookworm infection caused primarily by the species Ancylostoma duodenale or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.'),('780','Rhabdomyosarcoma','Disease','A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.'),('781','Q fever','Disease','Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.'),('782','Axenfeld-Rieger syndrome','Malformation syndrome','Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.'),('783','Rubinstein-Taybi syndrome','Malformation syndrome','A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.'),('785','Estrogen resistance syndrome','Disease','Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.'),('786','Generalized glucocorticoid resistance syndrome','Disease','A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.'),('788','OBSOLETE: Hereditary resistance to anti-vitamin K','Disease','no definition available'),('79','Congenital alpha2-antiplasmin deficiency','Disease','Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.'),('790','Retinoblastoma','Disease','A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.'),('79022','Simpson-Golabi-Behmel syndrome type 2','Malformation syndrome','no definition available'),('79062','Disorder of amino acid and other organic acid metabolism','Category','no definition available'),('79076','Juvenile polyposis of infancy','Clinical subtype','Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.'),('79078','IgG4-related dacryoadenitis and sialadenitis','Disease','IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).'),('79083','PPARG-related familial partial lipodystrophy','Disease','no definition available'),('79084','Familial partial lipodystrophy, Köbberling type','Disease','Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.'),('79085','AKT2-related familial partial lipodystrophy','Disease','no definition available'),('79086','Acquired generalized lipodystrophy','Disease','A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).'),('79087','Acquired partial lipodystrophy','Disease','A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.'),('79088','Localized lipodystrophy','Clinical group','A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy.'),('79091','Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome','Disease','Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.'),('79093','Foix-Alajouanine syndrome','Malformation syndrome','Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.'),('79094','Grange syndrome','Malformation syndrome','Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.'),('79095','Congenital bile acid synthesis defect type 4','Disease','Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.'),('79096','Pyridoxal phosphate-responsive seizures','Disease','Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.'),('79097','Folinic acid-responsive seizures','Disease','Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.'),('79098','Sympathetic ophthalmia','Disease','Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.'),('79099','Interstitial granulomatous dermatitis with arthritis','Disease','Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.'),('791','Retinitis pigmentosa','Disease','Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.'),('79100','Atrophoderma vermiculata','Disease','no definition available'),('79101','Hyperprolinemia type 2','Disease','Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.'),('79102','Thyrotoxic periodic paralysis','Disease','Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.'),('79105','Myxofibrosarcoma','Disease','A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.'),('79106','Eiken syndrome','Malformation syndrome','A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.'),('79107','Developmental malformations-deafness-dystonia syndrome','Malformation syndrome','Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.'),('79113','Mandibulofacial dysostosis-microcephaly syndrome','Malformation syndrome','Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.'),('79118','Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome','Disease','A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.'),('79124','Hepatic veno-occlusive disease-immunodeficiency syndrome','Disease','Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.'),('79126','Acute interstitial pneumonia','Disease','A rare rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.'),('79127','Respiratory bronchiolitis-interstitial lung disease syndrome','Disease','Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.'),('79128','Lymphoid interstitial pneumonia','Disease','no definition available'),('79129','Trichodysplasia-amelogenesis imperfecta syndrome','Malformation syndrome','The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.'),('79132','OBSOLETE: Sparse hair-short stature-skin anomalies syndrome','Malformation syndrome','no definition available'),('79133','Focal facial dermal dysplasia type I','Clinical subtype','Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.'),('79134','DEND syndrome','Disease','DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.'),('79135','Episodic ataxia type 3','Disease','Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.'),('79136','Episodic ataxia type 4','Disease','Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.'),('79137','Generalized epilepsy-paroxysmal dyskinesia syndrome','Disease','Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.'),('79138','Bickerstaff brainstem encephalitis','Disease','Bickerstaff`s brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).'),('79139','Japanese encephalitis','Disease','Japanese encephalitis is an arboviral disease (i.e. a disease due to a virus transmitted by an arthropod).'),('79140','Cutaneous neuroendocrine carcinoma','Disease','Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).'),('79141','Hereditary painful callosities','Disease','A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.'),('79142','NON RARE IN EUROPE: Familial Dupuytren contracture','Disease','no definition available'),('79143','Isolated congenital anonychia','Disease','Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.'),('79144','Isolated congenital onychodysplasia','Disease','no definition available'),('79145','Dowling-Degos disease','Disease','A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.'),('79146','Familial progressive hyperpigmentation','Disease','Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.'),('79147','Familial reactive perforating collagenosis','Disease','Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.'),('79148','Elastosis perforans serpiginosa','Disease','A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.'),('79149','Dermochondrocorneal dystrophy','Disease','Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.'),('79150','Linear and whorled nevoid hypermelanosis','Disease','A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.'),('79151','Acrokeratosis verruciformis of Hopf','Disease','A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic `church spire` appearance, with no acantholysis nor dyskeratosis associated.'),('79152','Disseminated superficial actinic porokeratosis','Disease','Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.'),('79153','Idiopathic trachyonychia','Disease','Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails.'),('79154','2-aminoadipic 2-oxoadipic aciduria','Disease','2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.'),('79155','Hydroxykynureninuria','Disease','A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.'),('79156','Seizures-intellectual disability due to hydroxylysinuria syndrome','Disease','Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.'),('79157','2-methylbutyryl-CoA dehydrogenase deficiency','Disease','2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is characterized by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine. It has been described in less than 30 patients, mostly from the Hmong population, an ethnic group of Chinese origin. The phenotype is not well defined, ranging from completely asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycemia, and metabolic acidosis. The disorder is transmitted as an autosomal recessive trait. The SBCAD enzyme catalyzes the conversion of 2-methylbutyryl-CoA to tiglyl-CoA in the isoleucine catabolic pathway. Mutations in the SBCAD gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.'),('79158','Cerebral organic aciduria','Category','no definition available'),('79159','Isobutyryl-CoA dehydrogenase deficiency','Disease','Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).'),('79161','Disorder of carbohydrate metabolism','Category','no definition available'),('79163','Classic organic aciduria','Category','no definition available'),('79166','Disorder of amino acid absorption and transport','Category','no definition available'),('79167','Disorder of urea cycle metabolism and ammonia detoxification','Category','no definition available'),('79168','Disorder of bile acid synthesis','Category','A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.'),('79169','Disorder of neurotransmitter metabolism and transport','Category','no definition available'),('79171','Disorder of cobalamin metabolism and transport','Category','no definition available'),('79172','Creatine deficiency syndrome','Clinical group','Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.'),('79173','Disorder of methionine cycle and sulfur amino acid metabolism','Category','no definition available'),('79174','Disorder of fatty acid oxidation and ketone body metabolism','Category','no definition available'),('79175','Disorder of gamma-aminobutyric acid metabolism','Category','no definition available'),('79177','Gluconeogenesis disorder','Category','no definition available'),('79178','Glucose transport disorder','Category','no definition available'),('79179','Disorder of glycerol metabolism','Category','no definition available'),('79181','Disorder of histidine metabolism','Category','no definition available'),('79183','Disorder of ketolysis','Category','no definition available'),('79185','Disorder of ornithine or proline metabolism','Category','no definition available'),('79186','Disorder of pentose phosphate metabolism','Category','no definition available'),('79187','Disorder of peptide metabolism','Category','no definition available'),('79188','Peroxisomal beta-oxidation disorder','Category','no definition available'),('79189','Peroxisome biogenesis disorder','Clinical group','Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).'),('79190','Disorder of phenylalanin or tyrosine metabolism','Category','no definition available'),('79191','Disorder of purine metabolism','Category','no definition available'),('79192','Disorder of pyridoxine metabolism','Category','no definition available'),('79193','Disorder of pyrimidine metabolism','Category','no definition available'),('79194','Disorder of serine or glycine metabolism','Category','no definition available'),('79195','Sterol biosynthesis disorder','Category','no definition available'),('79196','Disorder of the gamma-glutamyl cycle','Category','no definition available'),('79197','Disorder of branched-chain amino acid metabolism','Category','no definition available'),('792','X-linked retinoschisis','Malformation syndrome','X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.'),('79200','Disorder of energy metabolism','Category','no definition available'),('79201','Glycogen storage disease','Category','no definition available'),('79204','Lipid storage disease','Category','no definition available'),('79207','Disorder of lysosomal amino acid transport','Category','no definition available'),('79211','OBSOLETE: Combined hyperlipidemia','Clinical group','no definition available'),('79212','Mucolipidosis','Category','no definition available'),('79213','Mucopolysaccharidosis','Category','no definition available'),('79214','Disorder of biogenic amine metabolism and transport','Category','no definition available'),('79215','Oligosaccharidosis','Category','no definition available'),('79217','Other metabolic disease with skin involvement','Category','no definition available'),('79219','Metabolic disease involving other neurotransmitter deficiency','Category','no definition available'),('79224','Disorder of purine or pyrimidine metabolism','Category','no definition available'),('79225','Sphingolipidosis','Category','no definition available'),('79226','Sterol metabolism disorder','Category','no definition available'),('79230','Hemochromatosis type 2','Disease','Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.'),('79233','Hypoxanthine guanine phosphoribosyltransferase partial deficiency','Disease','Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.'),('79234','Crigler-Najjar syndrome type 1','Clinical subtype','A hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).'),('79235','Crigler-Najjar syndrome type 2','Clinical subtype','A hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). Crigler-Najjar syndrome type 2 (CNS2) is a milder form of Crigler-Najjar syndrome (CNS) than Crigler-Najjar syndrome type 1 (CNS1).'),('79237','Galactokinase deficiency','Disease','A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.'),('79238','Galactose epimerase deficiency','Disease','A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.'),('79239','Classic galactosemia','Disease','A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.'),('79240','Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency','Disease','A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.'),('79241','Biotinidase deficiency','Disease','A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.'),('79242','Holocarboxylase synthetase deficiency','Disease','A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.'),('79243','Pyruvate dehydrogenase E1-alpha deficiency','Clinical subtype','A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.'),('79244','Pyruvate dehydrogenase E2 deficiency','Clinical subtype','A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.'),('79246','Pyruvate dehydrogenase phosphatase deficiency','Clinical subtype','Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.'),('79253','Mild phenylketonuria','Clinical subtype','Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.'),('79254','Classic phenylketonuria','Clinical subtype','Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.'),('79255','GM1 gangliosidosis type 1','Clinical subtype','GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.'),('79256','GM1 gangliosidosis type 2','Clinical subtype','GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.'),('79257','GM1 gangliosidosis type 3','Clinical subtype','GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.'),('79258','Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia','Clinical subtype','Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).'),('79259','Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib','Clinical subtype','Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).'),('79260','Glycogen storage disease type 1c','Clinical subtype','no definition available'),('79261','Glycogen storage disease type 1d','Clinical subtype','no definition available'),('79262','Adult neuronal ceroid lipofuscinosis','Disease','A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.'),('79263','Infantile neuronal ceroid lipofuscinosis','Disease','Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.'),('79264','Juvenile neuronal ceroid lipofuscinosis','Disease','Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.'),('79269','Sanfilippo syndrome type A','Etiological subtype','no definition available'),('79270','Sanfilippo syndrome type B','Etiological subtype','no definition available'),('79271','Sanfilippo syndrome type C','Etiological subtype','no definition available'),('79272','Sanfilippo syndrome type D','Etiological subtype','no definition available'),('79273','Hereditary coproporphyria','Disease','Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.'),('79276','Acute intermittent porphyria','Disease','A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.'),('79277','Congenital erythropoietic porphyria','Disease','Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.'),('79278','Autosomal erythropoietic protoporphyria','Disease','Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.'),('79279','Alpha-N-acetylgalactosaminidase deficiency type 1','Clinical subtype','A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.'),('79280','Alpha-N-acetylgalactosaminidase deficiency type 2','Clinical subtype','A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.'),('79281','Alpha-N-acetylgalactosaminidase deficiency type 3','Clinical subtype','A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.'),('79282','Methylmalonic acidemia with homocystinuria, type cblC','Clinical subtype','cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.'),('79283','Methylmalonic acidemia with homocystinuria, type cblD','Clinical subtype','cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.'),('79284','Methylmalonic acidemia with homocystinuria type cblF','Clinical subtype','cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.'),('79289','Niemann-Pick disease type D','Disease','no definition available'),('79292','Fish-eye disease','Clinical subtype','Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.'),('79293','Familial LCAT deficiency','Clinical subtype','Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.'),('79298','Diazoxide-resistant focal hyperinsulinism','Clinical group','Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.'),('79299','Hyperinsulinism due to glucokinase deficiency','Disease','Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.'),('793','SAPHO syndrome','Disease','A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.'),('79301','Congenital bile acid synthesis defect type 1','Disease','Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.'),('79302','Congenital bile acid synthesis defect type 3','Disease','Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.'),('79303','Congenital bile acid synthesis defect type 2','Disease','Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.'),('79304','Progressive familial intrahepatic cholestasis type 2','Clinical subtype','Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.'),('79305','Progressive familial intrahepatic cholestasis type 3','Clinical subtype','Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.'),('79306','Progressive familial intrahepatic cholestasis type 1','Clinical subtype','PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.'),('79310','Vitamin B12-responsive methylmalonic acidemia type cblA','Clinical subtype','no definition available'),('79311','Vitamin B12-responsive methylmalonic acidemia type cblB','Clinical subtype','no definition available'),('79312','Vitamin B12-unresponsive methylmalonic acidemia type mut-','Clinical subtype','Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.'),('79314','L-2-hydroxyglutaric aciduria','Disease','L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.'),('79315','D-2-hydroxyglutaric aciduria','Disease','D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.'),('79316','OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency','Etiological subtype','no definition available'),('79317','OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency','Etiological subtype','no definition available'),('79318','PMM2-CDG','Disease','PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.'),('79319','MPI-CDG','Disease','MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).'),('79320','ALG6-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).'),('79321','ALG3-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).'),('79322','DPM1-CDG','Disease','The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.'),('79323','MPDU1-CDG','Disease','The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.'),('79324','ALG12-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).'),('79325','ALG8-CDG','Disease','A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.'),('79326','ALG2-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.'),('79327','ALG1-CDG','Disease','A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).'),('79328','ALG9-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).'),('79329','MGAT2-CDG','Disease','MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).'),('79330','MOGS-CDG','Disease','MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).'),('79332','B4GALT1-CDG','Disease','B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.'),('79333','COG7-CDG','Disease','COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.'),('79344','OBSOLETE: Chondrodysplasia punctata, Sheffield type','Malformation syndrome','no definition available'),('79345','Brachytelephalangic chondrodysplasia punctata','Malformation syndrome','Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.'),('79346','Chondrodysplasia punctata, tibial-metacarpal type','Malformation syndrome','A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clincially manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachnypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.'),('79347','Chondrodysplasia punctata, Toriello type','Malformation syndrome','Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.'),('79350','3-phosphoserine phosphatase deficiency, infantile/juvenile form','Etiological subtype','3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).'),('79351','3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form','Etiological subtype','3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form'),('79353','Epidermal disease','Category','no definition available'),('79354','Ichthyosis','Category','no definition available'),('79355','Erythrokeratoderma','Category','no definition available'),('79356','Acrokeratoderma','Category','no definition available'),('79357','Hereditary palmoplantar keratoderma','Category','no definition available'),('79358','Porokeratosis','Category','no definition available'),('79359','Other epidermal disorder','Category','no definition available'),('79360','Other genetic epidermal disease','Category','no definition available'),('79361','Inherited epidermolysis bullosa','Category','Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.'),('79362','Epidermal appendage anomaly','Category','no definition available'),('79363','Hair anomaly','Category','no definition available'),('79364','Alopecia','Category','no definition available'),('79365','Rare disorder with hypertrichosis','Category','no definition available'),('79366','Isolated hair shaft abnormality','Category','no definition available'),('79367','Syndromic hair shaft abnormality','Category','no definition available'),('79368','Nail anomaly','Category','no definition available'),('79369','Isolated nail anomaly','Category','no definition available'),('79370','Syndromic nail anomaly','Category','no definition available'),('79372','Sebaceous gland anomaly','Category','no definition available'),('79373','Ectodermal dysplasia syndrome','Category','The term ``ectodermal dysplasia`` defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.'),('79374','Pigmentation anomaly of the skin','Category','no definition available'),('79375','Hyperpigmentation of the skin','Category','no definition available'),('79376','Hypopigmentation of the skin','Category','no definition available'),('79377','Dermis disorder','Category','no definition available'),('79378','Dermis elastic tissue disorder','Category','no definition available'),('79379','Skin vascular disease','Category','no definition available'),('79380','Mixed dermis disorder','Category','no definition available'),('79381','Other dermis disorder','Category','no definition available'),('79382','Subcutaneous tissue disease','Category','no definition available'),('79383','OBSOLETE: Lymphedema','Category','no definition available'),('79384','Rare urticaria','Category','no definition available'),('79385','Unclassified genetic skin disorder','Category','no definition available'),('79386','Rare skin tumor or hamartoma','Category','no definition available'),('79387','Metabolic disease with skin involvement','Category','no definition available'),('79388','Mucopolysaccharidosis with skin involvement','Category','no definition available'),('79389','Premature aging','Category','no definition available'),('79390','Rare photodermatosis','Category','no definition available'),('79391','Immune deficiency with skin involvement','Category','no definition available'),('79394','Congenital non-bullous ichthyosiform erythroderma','Disease','Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.'),('79395','Keratoderma hereditarium mutilans with ichthyosis','Disease','Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.'),('79396','Epidermolysis bullosa simplex, generalized severe','Disease','Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.'),('79397','Epidermolysis bullosa simplex with mottled pigmentation','Disease','Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.'),('79399','Epidermolysis bullosa simplex, generalized intermediate','Disease','Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.'),('794','Saethre-Chotzen syndrome','Malformation syndrome','A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.'),('79400','Localized epidermolysis bullosa simplex','Disease','Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.'),('79401','Epidermolysis bullosa simplex, Ogna type','Disease','Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.'),('79402','Junctional epidermolysis bullosa, generalized intermediate','Clinical subtype','Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.'),('79403','Junctional epidermolysis bullosa-pyloric atresia syndrome','Disease','Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.'),('79404','Junctional epidermolysis bullosa, generalized severe','Disease','Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.'),('79405','Junctional epidermolysis bullosa inversa','Disease','Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.'),('79406','Late-onset junctional epidermolysis bullosa','Disease','Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.'),('79407','Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type','Clinical subtype','no definition available'),('79408','Severe generalized recessive dystrophic epidermolysis bullosa','Disease','Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.'),('79409','Recessive dystrophic epidermolysis bullosa inversa','Disease','Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.'),('79410','Pretibial dystrophic epidermolysis bullosa','Disease','Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.'),('79411','Transient bullous dermolysis of the newborn','Disease','Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.'),('79414','Woolly hair nevus','Disease','Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.'),('79428','OBSOLETE: Familial segmental neurofibromatosis','Clinical subtype','no definition available'),('79429','OBSOLETE: Familial spinal neurofibromatosis','Clinical subtype','no definition available'),('79430','Hermansky-Pudlak syndrome','Disease','Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.'),('79431','Oculocutaneous albinism type 1A','Clinical subtype','Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.'),('79432','Oculocutaneous albinism type 2','Disease','Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.'),('79433','Oculocutaneous albinism type 3','Disease','Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.'),('79434','Oculocutaneous albinism type 1B','Clinical subtype','Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.'),('79435','Oculocutaneous albinism type 4','Disease','Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.'),('79443','Pseudohypoparathyroidism type 1A','Disease','Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).'),('79444','Pseudohypoparathyroidism type 1C','Disease','Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright`s hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).'),('79445','Pseudopseudohypoparathyroidism','Disease','Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).'),('79446','Multiple pterygium syndrome, Aslan type','Etiological subtype','no definition available'),('79447','X-linked lethal multiple pterygium syndrome','Malformation syndrome','X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.'),('79450','Non-hereditary congenital primary lymphedema','Disease','no definition available'),('79452','Milroy disease','Disease','Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.'),('79455','Cutaneous mastocytoma','Disease','Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.'),('79456','Diffuse cutaneous mastocytosis','Disease','Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ``peau d`orange`` appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).'),('79457','Maculopapular cutaneous mastocytosis','Disease','Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.'),('79458','Oley syndrome','Malformation syndrome','no definition available'),('79459','Follicular atrophoderma-basal cell carcinoma','Clinical subtype','no definition available'),('79466','Inflammatory linear verrucous epidermal nevus','Clinical subtype','no definition available'),('79467','Verrucous nevus','Clinical subtype','no definition available'),('79468','Acanthokeratolytic verrucous nevus','Clinical subtype','no definition available'),('79473','Porphyria variegata','Disease','Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.'),('79474','Atypical Werner syndrome','Disease','An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.'),('79476','Griscelli syndrome type 1','Clinical subtype','no definition available'),('79477','Griscelli syndrome type 2','Clinical subtype','no definition available'),('79478','Griscelli syndrome type 3','Clinical subtype','no definition available'),('79479','Pemphigus vegetans','Disease','no definition available'),('79480','Pemphigus erythematosus','Disease','A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.'),('79481','Pemphigus foliaceus','Disease','A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.'),('79482','Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome','Malformation syndrome','no definition available'),('79483','Phakomatosis cesioflammea','Clinical subtype','no definition available'),('79484','Phakomatosis cesiomarmorata','Clinical subtype','no definition available'),('79485','Phakomatosis spilorosea','Clinical subtype','no definition available'),('79486','Cystic hygroma','Malformation syndrome','no definition available'),('79489','Macrocystic lymphatic malformation','Malformation syndrome','A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.'),('79490','Microcystic lymphatic malformation','Malformation syndrome','A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.'),('79492','Pili gemini','Disease','Pili gemini defines a situation where the papilla`s tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.'),('79493','Brooke-Spiegler syndrome','Disease','A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas'),('79495','X-linked congenital generalized hypertrichosis','Clinical subtype','X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.'),('79499','Autosomal dominant deafness-onychodystrophy syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or asbent terminal phalanges.'),('795','Rare form of salmonellosis','Category','Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with Salmonella enterica typhoidal species (S. typhi and S. paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of S. typhimurium and S. enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly.'),('79500','DOORS syndrome','Malformation syndrome','A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.'),('79501','Punctate palmoplantar keratoderma type 1','Disease','Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..'),('79502','Punctate palmoplantar keratoderma type 2','Disease','Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (`spiny keratosis`) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.'),('79503','Ichthyosis hystrix of Curth-Macklin','Disease','Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).'),('79504','Ichthyosis hystrix gravior','Disease','no definition available'),('79506','Cholesterol-ester transfer protein deficiency','Disease','no definition available'),('79507','Hypotonia-failure to thrive-microcephaly syndrome','Disease','Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.'),('796','Sandhoff disease','Disease','Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.'),('79643','Autosomal recessive hyperinsulinism due to SUR1 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.'),('79644','Autosomal recessive hyperinsulinism due to Kir6.2 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.'),('79651','Mild hyperphenylalaninemia','Clinical subtype','Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.'),('79665','Gardner syndrome','Clinical subtype','Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.'),('79669','Autoimmune bullous skin disease','Clinical group','no definition available'),('797','Sarcoidosis','Disease','A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.'),('798','Schinzel-Giedion syndrome','Malformation syndrome','Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.'),('799','Schizencephaly','Disease','A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.'),('8','47,XYY syndrome','Malformation syndrome','47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.'),('80','NON RARE IN EUROPE: Antiphospholipid syndrome','Disease','no definition available'),('800','Schwartz-Jampel syndrome','Disease','A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).'),('801','Scleroderma','Clinical group','Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).'),('802','NON RARE IN EUROPE: Multiple sclerosis','Disease','no definition available'),('803','Amyotrophic lateral sclerosis','Disease','A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.'),('805','Tuberous sclerosis complex','Disease','Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.'),('806','Scott syndrome','Disease','Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.'),('807','Sebastian syndrome','Clinical subtype','no definition available'),('808','Seckel syndrome','Malformation syndrome','Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.'),('809','Mixed connective tissue disease','Disease','Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).'),('81','Antisynthetase syndrome','Disease','A clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).'),('810','Shigellosis','Disease','Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.'),('811','Shwachman-Diamond syndrome','Disease','Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.'),('812','Sialidosis type 1','Disease','Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.'),('813','Silver-Russell syndrome','Disease','Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.'),('816','Sjögren-Larsson syndrome','Disease','A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.'),('817','Peeling skin syndrome','Clinical group','Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.'),('818','Smith-Lemli-Opitz syndrome','Malformation syndrome','Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.'),('819','Smith-Magenis syndrome','Malformation syndrome','Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.'),('82','Hereditary thrombophilia due to congenital antithrombin deficiency','Disease','Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).'),('820','Sneddon syndrome','Disease','Sneddon`s syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.'),('82004','Ehlers-Danlos syndrome with periventricular heterotopia','Disease','no definition available'),('821','Sotos syndrome','Disease','Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.'),('822','Hereditary spherocytosis','Disease','Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.'),('823','Isolated spina bifida','Clinical group','A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.'),('824','Primary myelofibrosis','Disease','A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.'),('825','NON RARE IN EUROPE: Ankylosing spondylitis','Disease','no definition available'),('826','Sporotrichosis','Disease','Sporotrichosis is an infection caused by the dimorphic fungus Sporothrix schenckii, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.'),('827','Stargardt disease','Disease','A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ``beaten bronze`` atrophic central macular lesion.'),('828','Stickler syndrome','Disease','Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases).'),('829','Adult-onset Still disease','Disease','A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.'),('83','Antley-Bixler syndrome','Malformation syndrome','A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.'),('830','NON RARE IN EUROPE: Stuccokeratosis','Disease','no definition available'),('83001','Urogenital tract malformation','Category','no definition available'),('831','Congenital cervical spinal stenosis','Disease','Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.'),('832','Succinyl-CoA:3-ketoacid CoA transferase deficiency','Disease','A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.'),('833','Encephalopathy due to sulfite oxidase deficiency','Disease','Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.'),('83311','Rocky Mountain spotted fever','Disease','A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria Rickettsia rickettsii characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. Additonal variable features may include conjunctivitis, mucosal ulcers, post-inflammatory hyperpigmentation, jaundice, pneumonia, hepatomegaly, renal failure, meningismus, amnesia, optic disc edema, and ocular arterial occlusion.'),('83312','Rickettsialpox','Disease','A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria Rickettsia akari characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symtoms resolve within 6-10 days.'),('83313','Boutonneuse fever','Disease','A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ``tache noire`` may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.'),('83314','Epidemic typhus','Disease','A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss.'),('83315','Murine typhus','Disease','A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common.'),('83316','Pseudotyphus of California','Disease','Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.'),('83317','Scrub typhus','Disease','Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.'),('83330','Proximal spinal muscular atrophy type 1','Clinical subtype','Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('834','Free sialic acid storage disease','Disease','Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).'),('83418','Proximal spinal muscular atrophy type 2','Clinical subtype','Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('83419','Proximal spinal muscular atrophy type 3','Clinical subtype','Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('83420','Proximal spinal muscular atrophy type 4','Clinical subtype','Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('83449','NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome','Disease','no definition available'),('83450','Regional odontodysplasia','Disease','Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.'),('83451','Florid cemento-osseous dysplasia','Disease','Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.'),('83452','Complex regional pain syndrome','Disease','Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.'),('83453','Vulvovaginal gingival syndrome','Disease','A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.'),('83454','Glomuvenous malformation','Malformation syndrome','Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.'),('83461','Congenital primary aphakia','Malformation syndrome','A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.'),('83463','Microtia','Morphological anomaly','A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.'),('83465','Narcolepsy type 2','Disease','A disorder that is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.'),('83467','Morvan syndrome','Disease','Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.'),('83468','Solitary bone cyst','Disease','A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.'),('83469','Desmoplastic small round cell tumor','Disease','An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.'),('83471','Thymic aplasia','Disease','A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.'),('83472','CAMOS syndrome','Malformation syndrome','A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.'),('83473','Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome','Malformation syndrome','A syndrome that is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.'),('83476','West-Nile encephalitis','Disease','An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.'),('83482','Mycoplasma encephalitis','Disease','Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).'),('83483','La Crosse encephalitis','Disease','An acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.'),('83484','St. Louis encephalitis','Disease','An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.'),('83593','Western equine encephalitis','Disease','An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.'),('83594','Eastern equine encephalitis','Disease','An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.'),('83595','Colorado tick fever','Disease','An acute arboviral infection caused by a Coltivirus transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.'),('83597','Acute disseminated encephalomyelitis','Disease','A demyelinating disorder of the central nervous system.'),('83600','Encephalitis lethargica','Disease','A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism.'),('83601','Steroid-responsive encephalopathy associated with autoimmune thyroiditis','Disease','Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.'),('83616','Rubella panencephalitis','Disease','A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.'),('83617','Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome','Malformation syndrome','A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.'),('83618','Severe dilated cardiomyopathy due to lamin A/C mutation','Disease','no definition available'),('83619','Macrostomia-preauricular tags-external ophthalmoplegia syndrome','Malformation syndrome','A syndrome that combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.'),('83620','Enteric anendocrinosis','Disease','A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.'),('83628','LUMBAR syndrome','Malformation syndrome','A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.'),('83629','Leukoencephalopathy-spondylometaphyseal dysplasia syndrome','Disease','A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.'),('83639','Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency','Disease','A syndrome with combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.'),('83642','Microcytic anemia with liver iron overload','Disease','A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.'),('83648','OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome','Disease','no definition available'),('838','Susac syndrome','Disease','A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.'),('839','Congenital nephrotic syndrome, Finnish type','Disease','A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.'),('84','Fanconi anemia','Malformation syndrome','Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.'),('840','Syringocystadenoma papilliferum','Disease','A rare non-malignant adnexal sweat gland neoplasm characterized by asymptomatic, skin-colored to pink papules or plaques with a highly variable appearance, most commonly in the head and neck area.'),('84064','Syndromic diarrhea','Disease','A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.'),('84065','Idiopathic malabsorption due to bile acid synthesis defects','Disease','A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.'),('84081','Senior-Boichis syndrome','Disease','A syndrome that consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.'),('84085','Hinman syndrome','Disease','Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.'),('84087','Collagen type III glomerulopathy','Disease','Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases, progression to end-stage renal failure is observed.'),('84090','Fibronectin glomerulopathy','Disease','A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.'),('84093','Hereditary thermosensitive neuropathy','Disease','Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.'),('84096','OBSOLETE: Unknown leukodystrophy','Disease','no definition available'),('841','Sebocystomatosis','Disease','Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.'),('84132','Desmin-related myopathy with Mallory body-like inclusions','Disease','no definition available'),('84142','Isaac syndrome','Disease','Isaac`s syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.'),('842','Testicular seminomatous germ cell tumor','Disease','Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.'),('84271','Sporadic idiopathic steroid-resistant nephrotic syndrome','Clinical syndrome','no definition available'),('844','Lown-Ganong-Levine syndrome','Disease','Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).'),('845','Tay-Sachs disease','Disease','A rare disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A deficiency.'),('846','Alpha-thalassemia','Disease','An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.'),('847','Alpha-thalassemia-X-linked intellectual disability syndrome','Disease','X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.'),('848','Beta-thalassemia','Disease','Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).'),('849','Glanzmann thrombasthenia','Disease','Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.'),('85','Congenital dyserythropoietic anemia','Clinical group','Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).'),('850','May-Hegglin thrombocytopenia','Clinical subtype','no definition available'),('851','Paris-Trousseau thrombocytopenia','Disease','Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.'),('85102','Perineurioma','Clinical group','no definition available'),('85110','Familial encephalopathy with neuroserpin inclusion bodies','Disease','A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).'),('85112','Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome','Disease','Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.'),('85128','Bothnia retinal dystrophy','Disease','Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.'),('85136','Cystic leukoencephalopathy without megalencephaly','Disease','Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.'),('85138','Addison disease','Disease','A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).'),('85142','NON RARE IN EUROPE: Aldosterone-producing adenoma','Disease','no definition available'),('85146','Neurogenic scapuloperoneal syndrome, Kaeser type','Disease','A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.'),('85162','Facial onset sensory and motor neuronopathy','Disease','Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.'),('85163','Hypomyelination-congenital cataract syndrome','Malformation syndrome','Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.'),('85164','Camptodactyly-tall stature-scoliosis-hearing loss syndrome','Disease','Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.'),('85165','Severe achondroplasia-developmental delay-acanthosis nigricans syndrome','Disease','Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).'),('85166','Platyspondylic dysplasia, Torrance type','Malformation syndrome','Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.'),('85167','Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome','Disease','Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.'),('85168','Craniofacial conodysplasia','Malformation syndrome','Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.'),('85169','Familial digital arthropathy-brachydactyly','Malformation syndrome','Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.'),('85170','Mesomelic dysplasia, Savarirayan type','Malformation syndrome','Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.'),('85172','Microcephalic osteodysplastic dysplasia, Saul-Wilson type','Disease','Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).'),('85173','IMAGe syndrome','Malformation syndrome','IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.'),('85174','Pseudodiastrophic dysplasia','Malformation syndrome','Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.'),('85175','Astley-Kendall dysplasia','Malformation syndrome','A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.'),('85179','Infantile osteopetrosis with neuroaxonal dysplasia','Malformation syndrome','This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.'),('85182','Diaphyseal medullary stenosis-bone malignancy syndrome','Disease','Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).'),('85184','Craniometadiaphyseal dysplasia, wormian bone type','Malformation syndrome','Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.'),('85186','Endosteal sclerosis-cerebellar hypoplasia syndrome','Malformation syndrome','Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.'),('85188','Metaphyseal dysplasia, Braun-Tinschert type','Malformation syndrome','Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an `Erlenmeyer flask`` appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.'),('85191','Singleton-Merten dysplasia','Malformation syndrome','Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).'),('85192','Calvarial doughnut lesions-bone fragility syndrome','Malformation syndrome','This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.'),('85193','Idiopathic juvenile osteoporosis','Malformation syndrome','Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.'),('85194','Spondylo-ocular syndrome','Malformation syndrome','Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.'),('85195','Familial expansile osteolysis','Disease','A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.'),('85196','Nodulosis-arthropathy-osteolysis syndrome','Clinical subtype','no definition available'),('85197','Genochondromatosis type 1','Disease','Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.'),('85198','Dysspondyloenchondromatosis','Malformation syndrome','Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.'),('85199','Craniosynostosis-anal anomalies-porokeratosis syndrome','Malformation syndrome','Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).'),('852','X-linked thrombocytopenia with normal platelets','Etiological subtype','no definition available'),('85200','Ischiovertebral syndrome','Malformation syndrome','Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.'),('85201','Genitopatellar syndrome','Malformation syndrome','Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.'),('85202','Keutel syndrome','Malformation syndrome','Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.'),('85203','Acropectoral syndrome','Malformation syndrome','A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.'),('85212','Fetal Gaucher disease','Clinical subtype','Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).'),('85273','X-linked intellectual disability, Abidi type','Malformation syndrome','X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.'),('85274','Syndromic X-linked intellectual disability 7','Malformation syndrome','A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.'),('85275','Microphthalmia-ankyloblepharon-intellectual disability syndrome','Malformation syndrome','Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.'),('85276','X-linked intellectual disability, Armfield type','Malformation syndrome','X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.'),('85277','X-linked intellectual disability, Cantagrel type','Malformation syndrome','X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.'),('85278','Christianson syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.'),('85279','Syndromic X-linked intellectual disability due to JARID1C mutation','Malformation syndrome','Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.'),('85280','X-linked intellectual disability-cubitus valgus-dysmorphism syndrome','Malformation syndrome','X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.'),('85281','MECP2 duplication syndrome','Malformation syndrome','no definition available'),('85282','MEHMO syndrome','Malformation syndrome','MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.'),('85283','X-linked intellectual disability, Miles-Carpenter type','Malformation syndrome','X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.'),('85284','BRESEK syndrome','Malformation syndrome','X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).'),('85285','X-linked intellectual disability, Schimke type','Malformation syndrome','X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.'),('85286','X-linked intellectual disability, Shashi type','Malformation syndrome','X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.'),('85287','X-linked intellectual disability, Siderius type','Malformation syndrome','X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.'),('85288','X-linked intellectual disability, Stocco Dos Santos type','Malformation syndrome','X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.'),('85289','X-linked intellectual disability, Vitale type','Malformation syndrome','no definition available'),('85290','X-linked intellectual disability, Wilson type','Malformation syndrome','X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.'),('85291','X-linked intellectual disability, Wittwer type','Malformation syndrome','no definition available'),('85292','X-linked spinocerebellar ataxia type 4','Disease','Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.'),('85293','X-linked intellectual disability, Cabezas type','Malformation syndrome','An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.'),('85294','X-linked epilepsy-learning disabilities-behavior disorders syndrome','Disease','X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).'),('85295','HSD10 disease, atypical type','Clinical subtype','no definition available'),('85297','X-linked spinocerebellar ataxia type 3','Malformation syndrome','X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.'),('853','Fetal and neonatal alloimmune thrombocytopenia','Disease','Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopaenia in otherwise healthy newborns.'),('85317','X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome','Malformation syndrome','X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.'),('85318','OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome','Malformation syndrome','no definition available'),('85319','X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome','Malformation syndrome','X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.'),('85320','X-linked intellectual disability-macrocephaly-macroorchidism syndrome','Malformation syndrome','An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.'),('85321','Deafness-intellectual disability syndrome, Martin-Probst type','Malformation syndrome','Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.'),('85322','X-linked intellectual disability, Pai type','Malformation syndrome','X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.'),('85323','X-linked intellectual disability, Seemanova type','Disease','X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.'),('85324','X-linked intellectual disability, Shrimpton type','Malformation syndrome','An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.'),('85325','X-linked intellectual disability, Stevenson type','Malformation syndrome','X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.'),('85326','X-linked intellectual disability, Stoll type','Malformation syndrome','X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.'),('85327','X-linked intellectual disability-acromegaly-hyperactivity syndrome','Disease','X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.'),('85328','X-linked intellectual disability, Turner type','Malformation syndrome','X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.'),('85329','X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome','Malformation syndrome','X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.'),('85330','X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome','Disease','no definition available'),('85331','OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome','Disease','no definition available'),('85332','X-linked intellectual disability-retinitis pigmentosa syndrome','Disease','X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.'),('85333','X-linked intellectual disability-spastic paraplegia with iron deposits syndrome','Disease','no definition available'),('85334','X-linked neurodegenerative syndrome, Bertini type','Disease','An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.'),('85335','Fried syndrome','Malformation syndrome','Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.'),('85336','X-linked neurodegenerative syndrome, Hamel type','Disease','An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.'),('85337','X-linked intellectual disability, Zorick type','Disease','no definition available'),('85338','X-linked intellectual disability-ataxia-apraxia syndrome','Disease','A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.'),('854','Primitive portal vein thrombosis','Clinical syndrome','Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.'),('85408','Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis','Disease','A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.'),('85410','Oligoarticular juvenile idiopathic arthritis','Disease','A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.'),('85414','Systemic-onset juvenile idiopathic arthritis','Disease','Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.'),('85435','Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis','Disease','A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.'),('85436','Psoriasis-related juvenile idiopathic arthritis','Disease','Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.'),('85438','Enthesitis-related juvenile idiopathic arthritis','Disease','Enthesitis-related arthritis is a type of juvenile idiopathic arthritis (JIA) that represents the paediatric form of spondylarthropathy in adults.'),('85442','Short stature-pituitary and cerebellar defects-small sella turcica syndrome','Disease','Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).'),('85443','AL amyloidosis','Disease','A plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.'),('85445','AA amyloidosis','Disease','Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.'),('85446','Wild type ABeta2M amyloidosis','Disease','Dialysis-related amyloidosis (DRA), is a type of amyloidosis (see this term) affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.'),('85447','ATTRV30M amyloidosis','Disease','Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.'),('85448','AGel amyloidosis','Disease','A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.'),('85450','Hereditary amyloidosis with primary renal involvement','Disease','A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.'),('85451','ATTRV122I amyloidosis','Disease','Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.'),('85453','X-linked reticulate pigmentary disorder','Disease','X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.'),('85458','Hereditary cerebral hemorrhage with amyloidosis','Disease','Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.'),('855','NON RARE IN EUROPE: Hashimoto thyroiditis','Disease','no definition available'),('856','NON RARE IN EUROPE: Tourette syndrome','Disease','no definition available'),('857','Townes-Brocks syndrome','Malformation syndrome','A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.'),('858','Congenital toxoplasmosis','Disease','A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by Toxoplasma gondii (Tg).'),('859','Transcobalamin deficiency','Disease','Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.'),('86','Familial abdominal aortic aneurysm','Disease','no definition available'),('860','Congenitally uncorrected transposition of the great arteries','Morphological anomaly','Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.'),('861','Treacher-Collins syndrome','Malformation syndrome','Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.'),('862','NON RARE IN EUROPE: Hereditary essential tremor','Disease','no definition available'),('863','Trichinellosis','Disease','Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.'),('86309','DPAGT1-CDG','Disease','DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).'),('864','Trichofolliculoma','Disease','A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.'),('867','Familial multiple trichoepithelioma','Clinical subtype','no definition available'),('86788','X-linked severe congenital neutropenia','Disease','X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.'),('86789','Patella aplasia/hypoplasia','Morphological anomaly','Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.'),('86795','Localized lichen myxedematosus','Clinical group','Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.'),('86797','Atypical lichen myxedematosus','Disease','An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.'),('868','Triose phosphate-isomerase deficiency','Disease','Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.'),('86812','POMT1-related limb-girdle muscular dystrophy R11','Disease','A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.'),('86813','Helicoid peripapillary chorioretinal degeneration','Disease','Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.'),('86814','Benign adult familial myoclonic epilepsy','Disease','Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.'),('86815','Aplasia of lacrimal and salivary glands','Disease','A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.'),('86816','Congenital analbuminemia','Disease','Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).'),('86817','Hemolytic anemia due to adenylate kinase deficiency','Disease','Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.'),('86818','Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome','Disease','A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.'),('86819','Atrichia with papular lesions','Disease','A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.'),('86820','Familial avascular necrosis of femoral head','Disease','Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.'),('86821','Lissencephaly type 3-familial fetal akinesia sequence syndrome','Malformation syndrome','Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).'),('86822','Lissencephaly type 3-metacarpal bone dysplasia syndrome','Malformation syndrome','This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).'),('86823','Lissencephaly with cerebellar hypoplasia','Clinical group','Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.'),('86829','Chronic neutrophilic leukemia','Disease','no definition available'),('86830','Chronic myeloproliferative disease, unclassifiable','Disease','Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.'),('86834','Juvenile myelomonocytic leukemia','Disease','no definition available'),('86836','Refractory cytopenia with multilineage dysplasia','Clinical group','Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.'),('86839','Refractory anemia with excess blasts','Disease','Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.'),('86841','Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality','Disease','no definition available'),('86843','Acute panmyelosis with myelofibrosis','Disease','no definition available'),('86845','Acute myeloid leukaemia with myelodysplasia-related features','Disease','no definition available'),('86846','Therapy related acute myeloid leukemia and myelodysplastic syndrome','Category','no definition available'),('86849','Acute basophilic leukemia','Disease','no definition available'),('86850','Myeloid sarcoma','Disease','Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.'),('86851','Acute leukemia of ambiguous lineage','Category','no definition available'),('86852','B-cell prolymphocytic leukemia','Disease','no definition available'),('86854','Splenic marginal zone lymphoma','Disease','Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.'),('86855','Plasmacytoma','Disease','Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.'),('86861','Non-amyloid monoclonal immunoglobulin deposition disease','Disease','A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin.'),('86864','Heavy chain disease','Disease','Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.'),('86867','Nodal marginal zone B-cell lymphoma','Disease','Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.'),('86869','Lymphomatoid granulomatosis','Disease','Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.'),('86870','CD4+/CD56+ hematodermic neoplasm','Disease','no definition available'),('86871','T-cell prolymphocytic leukemia','Disease','no definition available'),('86872','T-cell large granular lymphocyte leukemia','Disease','T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.'),('86873','Aggressive NK-cell leukemia','Disease','An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.'),('86875','Adult T-cell leukemia/lymphoma','Disease','A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor αβ. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.'),('86879','Extranodal nasal NK/T cell lymphoma','Disease','Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.'),('86880','Enteropathy-associated T-cell lymphoma','Disease','no definition available'),('86882','Hepatosplenic T-cell lymphoma','Disease','no definition available'),('86884','Subcutaneous panniculitis-like T-cell lymphoma','Disease','Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.'),('86885','Primary cutaneous peripheral T-cell lymphoma not otherwise specified','Disease','An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated.'),('86886','Angioimmunoblastic T-cell lymphoma','Disease','no definition available'),('86893','Nodular lymphocyte predominant Hodgkin lymphoma','Disease','Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.'),('86896','Histiocytic sarcoma','Disease','no definition available'),('86897','Langerhans cell sarcoma','Disease','no definition available'),('869','Triple A syndrome','Disease','Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.'),('86900','Interdigitating dendritic cell sarcoma','Disease','no definition available'),('86902','Follicular dendritic cell sarcoma','Disease','no definition available'),('86903','Dendritic cell sarcoma not otherwise specified','Disease','no definition available'),('86904','Methotrexate-associated lymphoproliferative disorders','Disease','Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.'),('86906','Hypothalamic hamartomas with gelastic seizures','Disease','Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.'),('86908','Idiopathic hemiconvulsion-hemiplegia syndrome','Disease','A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.'),('86909','Myoclonic epilepsy of infancy','Disease','A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.'),('86911','Epilepsy with myoclonic absences','Disease','A rare childhood-onset epilepsy syndrome characterized by sudden onset of staring and unresponsiveness, in association with rhythmical myoclonic jerks predominantly involving the superior upper limbs and leading to typical raising of the arms and shoulders. Ictal EEG shows bilateral, synchronous, symmetric 3-Hz spike-wave discharges. Other types of seizures (e. g. generalized tonic-clonic seizures) are often associated. Additional symptoms may include intellectual disability.'),('86913','Myoclonic epilepsy in non-progressive encephalopathies','Malformation syndrome','Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.'),('86914','Lymphedema-cerebral arteriovenous anomaly syndrome','Malformation syndrome','Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.'),('86915','Lymphedema-atrial septal defects-facial changes syndrome','Malformation syndrome','Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.'),('86917','OBSOLETE: Lymphedema-cleft palate syndrome','Malformation syndrome','no definition available'),('86918','Diffuse palmoplantar keratoderma-acrocyanosis syndrome','Disease','Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.'),('86919','Keratosis palmaris et plantaris-clinodactyly syndrome','Disease','Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.'),('86920','Dermatopathia pigmentosa reticularis','Disease','A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.'),('86923','Hereditary palmoplantar keratoderma, Gamborg-Nielsen type','Disease','Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.'),('87','Apert syndrome','Malformation syndrome','A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.'),('870','Down syndrome','Malformation syndrome','A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.'),('871','Familial progressive cardiac conduction defect','Disease','A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.'),('872','OBSOLETE: Disorder in the hormonal synthesis with or without goiter','Clinical group','no definition available'),('87277','Rare intellectual disability','Category','no definition available'),('873','Desmoid tumor','Disease','A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.'),('874','Primary adult heart tumor','Disease','A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma.'),('875','Primary pediatric heart tumor','Disease','Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.'),('87503','Mal de Meleda','Disease','Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.'),('876','Yolk sac tumor','Disease','no definition available'),('877','Neuroendocrine neoplasm','Category','Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).'),('87876','Sialidosis type 2','Disease','Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.'),('87884','Non-syndromic genetic deafness','Disease','Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.'),('879','Tungiasis','Disease','Tungiasis is a parasitic skin disease caused by the female sand flea Tunga penetrans. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.'),('88','Idiopathic aplastic anemia','Disease','no definition available'),('881','Turner syndrome','Malformation syndrome','Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.'),('882','Tyrosinemia type 1','Disease','Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.'),('883','Extragonadal teratoma','Disease','Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.'),('884','Tetrasomy 12p','Malformation syndrome','Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.'),('886','Usher syndrome','Disease','Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.'),('88616','Autosomal recessive non-syndromic intellectual disability','Etiological subtype','no definition available'),('88618','Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency','Disease','A rare, genetic, inborn error of metabolism disorder characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. Epidemiology'),('88619','Familial acute necrotizing encephalopathy','Disease','Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.'),('88620','Isolated congenital anosmia','Disease','This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).'),('88621','Ichthyosis-prematurity syndrome','Disease','Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.'),('88628','Posterior column ataxia-retinitis pigmentosa syndrome','Disease','Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.'),('88629','Tritanopia','Disease','Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.'),('88630','Terminal osseous dysplasia-pigmentary defects syndrome','Malformation syndrome','Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.'),('88632','Anterior segment developmental anomaly','Category','no definition available'),('88633','Superior limbic keratoconjunctivitis','Disease','no definition available'),('88635','Vacuolar myopathy with sarcoplasmic reticulum protein aggregates','Disease','A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.'),('88636','Aortic dilatation-joint hypermobility-arterial tortuosity syndrome','Disease','no definition available'),('88637','Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome','Clinical subtype','no definition available'),('88639','Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency','Disease','Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.'),('88642','Channelopathy-associated congenital insensitivity to pain','Disease','no definition available'),('88643','Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome','Disease','Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.'),('88644','Autosomal recessive ataxia, Beauce type','Disease','A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.'),('88659','Autosomal dominant progressive nephropathy with hypertension','Disease','A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.'),('88660','Hypertension due to gain-of-function mutations in the mineralocorticoid receptor','Disease','Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.'),('88661','Amelogenesis imperfecta','Disease','A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.'),('88673','Hepatocellular carcinoma','Clinical group','Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.'),('887','VACTERL/VATER association','Malformation syndrome','VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.'),('888','Van der Woude syndrome','Malformation syndrome','Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.'),('889','Cutaneous small vessel vasculitis','Disease','Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.'),('88917','X-linked Alport syndrome','Clinical subtype','no definition available'),('88918','Autosomal dominant Alport syndrome','Clinical subtype','no definition available'),('88919','Autosomal recessive Alport syndrome','Clinical subtype','no definition available'),('88924','Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis','Disease','Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).'),('88938','Pseudohypoaldosteronism type 2A','Etiological subtype','no definition available'),('88939','Pseudohypoaldosteronism type 2B','Etiological subtype','no definition available'),('88940','Pseudohypoaldosteronism type 2C','Etiological subtype','no definition available'),('88949','MUC1-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','no definition available'),('88950','UMOD-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','no definition available'),('88991','Rare congenital non-syndromic heart malformation','Category','no definition available'),('88993','Esophageal malformation','Category','no definition available'),('890','Hepatic veno-occlusive disease','Disease','Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.'),('89043','Rare dementia','Category','no definition available'),('891','Familial exudative vitreoretinopathy','Disease','Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.'),('892','Von Hippel-Lindau disease','Disease','Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.'),('893','WAGR syndrome','Malformation syndrome','A rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.'),('894','Waardenburg syndrome type 1','Clinical subtype','A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.'),('895','Waardenburg syndrome type 2','Clinical subtype','An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.'),('896','Waardenburg syndrome type 3','Clinical subtype','A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.'),('897','Waardenburg-Shah syndrome','Disease','Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).'),('898','Wagner disease','Disease','Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.'),('89826','Rare skin disease','Category','no definition available'),('89832','OBSOLETE: Syndromic lymphedema','Category','no definition available'),('89833','Palmoplantar keratoderma with tonotubular keratin','Disease','no definition available'),('89838','Epidermolysis bullosa simplex, autosomal recessive K14','Disease','Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.'),('89839','Epidermolysis bullosa simplex superficialis','Disease','Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters.'),('89840','Junctional epidermolysis bullosa, non-Herlitz type','Disease','Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.'),('89841','Centripetalis recessive dystrophic epidermolysis bullosa','Disease','Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk.'),('89842','Recessive dystrophic epidermolysis bullosa, generalized intermediate','Disease','Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.'),('89843','Dystrophic epidermolysis bullosa pruriginosa','Disease','Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.'),('89844','Lissencephaly syndrome, Norman-Roberts type','Clinical subtype','Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.'),('89845','OBSOLETE: Idiopathic hydrops fetalis','Disease','no definition available'),('899','Walker-Warburg syndrome','Disease','Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.'),('89936','X-linked hypophosphatemia','Disease','X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.'),('89937','Autosomal dominant hypophosphatemic rickets','Disease','A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.'),('89938','Infantile Bartter syndrome with sensorineural deafness','Clinical subtype','Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.'),('89939','NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis','Disease','no definition available'),('9','Tetrasomy X','Malformation syndrome','Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).'),('90','Argininemia','Disease','A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.'),('900','Granulomatosis with polyangiitis','Disease','A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia.'),('90000','Erythema elevatum diutinum','Disease','Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.'),('90001','X-linked cone dysfunction syndrome with myopia','Disease','X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.'),('90002','Undifferentiated connective tissue syndrome','Disease','no definition available'),('90003','Inflammatory pseudotumor of the liver','Disease','Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.'),('90020','Amyotrophic lateral sclerosis-parkinsonism-dementia complex','Disease','no definition available'),('90021','Radiation myelitis','Disease','Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.'),('90022','OBSOLETE: Cardiomyopathy-renal anomalies syndrome','Malformation syndrome','no definition available'),('90023','Primary immunodeficiency syndrome due to LAMTOR2 deficiency','Disease','Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.'),('90024','Deafness with labyrinthine aplasia, microtia, and microdontia','Malformation syndrome','Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.'),('90025','Non-syndromic syndactyly','Category','no definition available'),('90026','Primary erythromelalgia','Disease','Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.'),('90030','Hemolytic anemia due to glutathione reductase deficiency','Disease','Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.'),('90031','Non-spherocytic hemolytic anemia due to hexokinase deficiency','Disease','Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.'),('90033','Autoimmune hemolytic anemia, warm type','Disease','Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).'),('90035','Paroxysmal cold hemoglobinuria','Disease','Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.'),('90036','Mixed-type autoimmune hemolytic anemia','Disease','Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.'),('90037','Drug-induced autoimmune hemolytic anemia','Disease','Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.'),('90038','Shiga toxin-associated hemolytic uremic syndrome','Clinical subtype','Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.'),('90039','Hemoglobin D disease','Disease','Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).'),('90041','Gaisböck syndrome','Disease','Gaisbock syndrome is characterised by secondary polycythemia.'),('90042','Primary familial polycythemia','Disease','Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.'),('90044','Familial pseudohyperkalemia','Disease','Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.'),('90045','Hereditary folate malabsorption','Disease','Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.'),('90050','Retinopathy of prematurity','Disease','A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.'),('90051','Sepsis in premature infants','Particular clinical situation in a disease or syndrome','no definition available'),('90052','Recurrent hepatitis C virus induced liver disease in liver transplant recipients','Particular clinical situation in a disease or syndrome','no definition available'),('90053','Complications after hematopoietic stem cell transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('90055','OBSOLETE: Rejection after corneal transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('90056','Moderate and severe traumatic brain injury','Particular clinical situation in a disease or syndrome','no definition available'),('90058','Spinal cord injury','Particular clinical situation in a disease or syndrome','no definition available'),('90059','Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma','Particular clinical situation in a disease or syndrome','no definition available'),('90060','Diffuse alveolar hemorrhage','Clinical syndrome','A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.'),('90061','Non-infectious posterior uveitis','Category','no definition available'),('90062','Acute liver failure','Clinical syndrome','no definition available'),('90064','Acute peripheral arterial occlusion','Particular clinical situation in a disease or syndrome','no definition available'),('90065','Acquired aneurysmal subarachnoid hemorrhage','Particular clinical situation in a disease or syndrome','A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.'),('90066','Pneumonia caused by Pseudomonas aeruginosa infection','Particular clinical situation in a disease or syndrome','no definition available'),('90068','Cocaine intoxication','Disease','A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.'),('90069','Systemic monochloroacetate poisoning','Disease','Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.'),('90070','OBSOLETE: Methotrexate poisoning','Particular clinical situation in a disease or syndrome','no definition available'),('90073','Hepatitis B reinfection following liver transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('90076','Partial deep dermal and full thickness burns','Particular clinical situation in a disease or syndrome','no definition available'),('90077','Other acquired skin disease','Category','no definition available'),('90078','Invasive infections due to vancomycin-resistant enterococci','Particular clinical situation in a disease or syndrome','no definition available'),('90079','OBSOLETE: Anthracycline extravasation','Particular clinical situation in a disease or syndrome','no definition available'),('90080','Scarring in glaucoma filtration surgical procedures','Particular clinical situation in a disease or syndrome','no definition available'),('90081','AIDS wasting syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('901','Wells syndrome','Disease','Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.'),('90103','Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome','Malformation syndrome','Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.'),('90114','Autosomal dominant intermediate Charcot-Marie-Tooth disease','Clinical group','no definition available'),('90117','Hereditary motor and sensory neuropathy, Okinawa type','Disease','Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.'),('90118','Severe early-onset axonal neuropathy due to MFN2 deficiency','Disease','Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.'),('90119','Hereditary motor and sensory neuropathy with acrodystrophy','Disease','Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.'),('90120','Hereditary motor and sensory neuropathy type 6','Disease','A rare axonal hereditary motor and sensoy neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.'),('90153','Mandibuloacral dysplasia with type A lipodystrophy','Clinical subtype','no definition available'),('90154','Mandibuloacral dysplasia with type B lipodystrophy','Clinical subtype','no definition available'),('90156','Centrifugal lipodystrophy','Disease','Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.'),('90157','Drug-induced localized lipodystrophy','Disease','Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.'),('90158','Idiopathic localized lipodystrophy','Disease','Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).'),('90159','Panniculitis-induced localized lipodystrophy','Disease','Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.'),('90160','Pressure-induced localized lipoatrophy','Disease','Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.'),('90185','Non-hereditary late-onset primary lymphedema','Disease','no definition available'),('90186','Meige disease','Disease','Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.'),('902','Werner syndrome','Disease','Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.'),('90280','Chilblain lupus','Disease','A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.'),('90281','Discoid lupus erythematosus','Disease','no definition available'),('90282','Hypertrophic or verrucous lupus erythematosus','Disease','Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.'),('90283','Lupus erythematosus tumidus','Disease','no definition available'),('90285','Lupus erythematosus panniculitis','Disease','no definition available'),('90287','OBSOLETE: Maculopapular lupus rash','Disease','no definition available'),('90289','Localized scleroderma','Disease','Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.'),('90290','CREST syndrome','Clinical subtype','no definition available'),('90291','Systemic sclerosis','Disease','Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).'),('903','Von Willebrand disease','Disease','von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms).'),('90301','Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome','Disease','This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.'),('90307','Parkes Weber syndrome','Clinical subtype','no definition available'),('90308','Klippel-Trénaunay syndrome','Clinical subtype','no definition available'),('90309','OBSOLETE: Ehlers-Danlos syndrome type 1','Etiological subtype','no definition available'),('90318','OBSOLETE: Ehlers-Danlos syndrome type 2','Etiological subtype','no definition available'),('90321','Cockayne syndrome type 1','Clinical subtype','no definition available'),('90322','Cockayne syndrome type 2','Clinical subtype','no definition available'),('90324','Cockayne syndrome type 3','Clinical subtype','no definition available'),('90338','Margarita island ectodermal dysplasia','Malformation syndrome','no definition available'),('90339','OBSOLETE: Rosselli-Gulienetti syndrome','Malformation syndrome','no definition available'),('90340','Blau syndrome','Disease','Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.'),('90341','Early-onset sarcoidosis','Disease','no definition available'),('90342','Xeroderma pigmentosum variant','Disease','Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.'),('90345','OBSOLETE: Unclassified metaphyseal chondrodysplasia','Disease','no definition available'),('90348','Autosomal dominant cutis laxa','Disease','A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.'),('90349','Autosomal recessive cutis laxa type 1','Disease','A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).'),('90350','Autosomal recessive cutis laxa type 2','Clinical group','A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).'),('90354','Brittle cornea syndrome','Disease','A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.'),('90362','Primary intestinal lymphangiectasia','Disease','A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.'),('90363','Secondary intestinal lymphangiectasia','Disease','Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.'),('90368','Hypotrichosis simplex of the scalp','Disease','Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.'),('90389','Telangiectasia macularis eruptiva perstans','Clinical subtype','no definition available'),('90390','Anonychia-onychodystrophy syndrome','Clinical subtype','no definition available'),('90393','Nodular lichen myxedematosus','Disease','Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.'),('90394','Discrete papular lichen myxedematosus','Disease','Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.'),('90395','Papular mucinosis of infancy','Disease','Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.'),('90396','Acral persistent papular mucinosis','Disease','A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.'),('90397','Self-healing papular mucinosis','Disease','Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.'),('90398','Localized lichen myxedematosus with mixed features of different subtypes','Clinical subtype','Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms).'),('90399','Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms','Clinical subtype','Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.'),('904','Williams syndrome','Malformation syndrome','A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity).'),('90400','Scleromyxedema without monoclonal gammopathy','Clinical subtype','Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.'),('905','Wilson disease','Disease','Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.'),('906','Wiskott-Aldrich syndrome','Disease','A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.'),('90625','X-linked non-syndromic sensorineural deafness type DFN','Etiological subtype','no definition available'),('90635','Autosomal dominant non-syndromic sensorineural deafness type DFNA','Etiological subtype','no definition available'),('90636','Autosomal recessive non-syndromic sensorineural deafness type DFNB','Etiological subtype','no definition available'),('90641','Mitochondrial non-syndromic sensorineural deafness','Etiological subtype','no definition available'),('90642','Syndromic genetic deafness','Category','no definition available'),('90646','Deafness-hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.'),('90647','Jervell and Lange-Nielsen syndrome','Disease','Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.'),('90649','Orofaciodigital syndrome type 7','Malformation syndrome','no definition available'),('90650','Otopalatodigital syndrome type 1','Malformation syndrome','A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.'),('90652','Otopalatodigital syndrome type 2','Malformation syndrome','A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.'),('90653','Stickler syndrome type 1','Clinical subtype','no definition available'),('90654','Stickler syndrome type 2','Clinical subtype','no definition available'),('90658','Charcot-Marie-Tooth disease type 1E','Disease','A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.'),('90673','Hypothyroidism due to TSH receptor mutations','Disease','A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.'),('90674','Isolated thyroid-stimulating hormone deficiency','Disease','A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.'),('90692','Rare endocrine growth disease','Category','no definition available'),('90695','Non-acquired panhypopituitarism','Disease','A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.'),('907','NON RARE IN EUROPE: Wolff-Parkinson-White syndrome','Disease','no definition available'),('90771','Disorder of sex development','Category','no definition available'),('90776','46,XX disorder of sex development induced by fetal androgens excess','Category','no definition available'),('90783','46,XY disorder of sex development due to a testosterone synthesis defect','Category','no definition available'),('90786','46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect','Category','no definition available'),('90787','46,XY disorder of sex development due to testicular steroidogenesis defect','Category','no definition available'),('90790','Congenital lipoid adrenal hyperplasia due to STAR deficency','Disease','A disorder that is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.'),('90791','Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency','Disease','A very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.'),('90793','Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency','Disease','A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.'),('90794','Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency','Disease','A disorder that is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.'),('90795','Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency','Disease','A rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.'),('90796','46,XY disorder of sex development due to isolated 17,20-lyase deficiency','Disease','46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.'),('90797','Partial androgen insensitivity syndrome','Disease','A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.'),('908','Fragile X syndrome','Malformation syndrome','A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.'),('909','Cerebrotendinous xanthomatosis','Disease','Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.'),('90970','Primary lipodystrophy','Category','A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).'),('91','Aromatase deficiency','Disease','A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.'),('910','Xeroderma pigmentosum','Disease','Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).'),('91024','Autosomal recessive axonal hereditary motor and sensory neuropathy','Clinical group','no definition available'),('91088','Other metabolic disease','Category','no definition available'),('911','Combined immunodeficiency due to ZAP70 deficiency','Disease','A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.'),('91127','Adenovirus infection in immunocompromised patients','Particular clinical situation in a disease or syndrome','no definition available'),('91128','OBSOLETE: Graft rejection after lung transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('91129','Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome','Malformation syndrome','no definition available'),('91130','Cardiomyopathy-hypotonia-lactic acidosis syndrome','Disease','Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.'),('91131','DK1-CDG','Disease','DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.'),('91132','Ichthyosis-hypotrichosis syndrome','Disease','Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.'),('91133','Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.'),('91135','Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency','Disease','Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.'),('91136','Acquired monoclonal Ig light chain-associated Fanconi syndrome','Disease','A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.'),('91137','Immunotactoid or fibrillary glomerulopathy','Clinical group','Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.'),('91138','Cryoglobulinemic vasculitis','Disease','Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.'),('91139','Simple cryoglobulinemia','Disease','Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.'),('91140','Unspecified juvenile idiopathic arthritis','Disease','Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.'),('91144','46,XX disorder of sex development induced by maternal-derived androgen','Category','no definition available'),('912','Zellweger syndrome','Disease','A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.'),('913','Zollinger-Ellison syndrome','Disease','Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.'),('91347','TSH-secreting pituitary adenoma','Disease','A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symtoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.'),('91348','Functioning gonadotropic adenoma','Disease','Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).'),('91349','Non-functioning pituitary adenoma','Disease','A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism. Histologically, different subtypes can be distinguished based on the expression of anterior pituitary hormones and transcription factors, silent gonadotroph adenoma being the most common subtype, while non-expressing null cell adenomas are very rare. Assessment of tumor cell proliferation is important to identify potentially aggressive tumors.'),('91350','Pituitary deficiency due to Rathke cleft cysts','Disease','Pituitary deficiency due to Rathke`s cleft cysts is a rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.'),('91351','Pituitary dermoid and epidermoid cysts','Disease','Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction.'),('91352','Germinoma of the central nervous system','Clinical subtype','A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.'),('91353','OBSOLETE: Choristoma','Disease','no definition available'),('91354','Pituitary deficiency due to empty sella turcica syndrome','Disease','no definition available'),('91355','Sheehan syndrome','Malformation syndrome','Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.'),('91357','Duplication of the esophagus','Clinical group','no definition available'),('91358','Congenital esophageal diverticulum','Morphological anomaly','Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.'),('91359','Chronic pneumonitis of infancy','Disease','Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).'),('91364','Non-specific interstitial pneumonia','Disease','no definition available'),('91365','OBSOLETE: Secondary ciliary dyskinesia','Disease','no definition available'),('91378','Hereditary angioedema','Clinical group','Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.'),('91385','Acquired angioedema','Clinical group','A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.'),('91387','Familial thoracic aortic aneurysm and aortic dissection','Disease','Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.'),('91396','Isolated cryptophthalmia','Morphological anomaly','Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.'),('91397','Isolated ankyloblepharon filiforme adnatum','Morphological anomaly','Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.'),('91411','Congenital ptosis','Disease','Congenital ptosis is characterized by superior eyelid drop present at birth.'),('91412','Marcus-Gunn syndrome','Disease','Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.'),('91413','Congenital Horner syndrome','Disease','Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.'),('91414','Pilomatrixoma','Disease','Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).'),('91415','OBSOLETE: Familial capillary hemangioma','Disease','no definition available'),('91416','Isolated congenital alacrima','Disease','Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.'),('91481','Ring dermoid of cornea','Disease','Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.'),('91483','Rieger anomaly','Morphological anomaly','Rieger`s anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).'),('91489','Isolated congenital megalocornea','Morphological anomaly','Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.'),('91490','Isolated congenital sclerocornea','Morphological anomaly','no definition available'),('91491','Congenital ectropion uveae','Malformation syndrome','Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.'),('91492','Early-onset non-syndromic cataract','Disease','A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.'),('91494','Macular coloboma-cleft palate-hallux valgus syndrome','Malformation syndrome','Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.'),('91495','Persistent hyperplastic primary vitreous','Disease','no definition available'),('91496','Snowflake vitreoretinal degeneration','Disease','Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.'),('91498','Familial congenital palsy of trochlear nerve','Disease','Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.'),('915','Aarskog-Scott syndrome','Malformation syndrome','A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.'),('91500','Tubulointerstitial nephritis and uveitis syndrome','Disease','A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.'),('91546','Lyme disease','Disease','Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.'),('91547','Relapsing fever','Disease','Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex.'),('916','Aase-Smith syndrome','Malformation syndrome','A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.'),('918','ABCD syndrome','Malformation syndrome','no definition available'),('92','Juvenile idiopathic arthritis','Clinical group','A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin.'),('920','Ablepharon macrostomia syndrome','Malformation syndrome','An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.'),('92050','Congenital tufting enteropathy','Disease','Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.'),('921','Abruzzo-Erickson syndrome','Malformation syndrome','An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.'),('922','Familial nasal acilia','Disease','Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.'),('924','NON RARE IN EUROPE: Acanthosis nigricans','Disease','no definition available'),('926','Acatalasemia','Disease','A rare congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.'),('927','Hyperammonemia due to N-acetylglutamate synthase deficiency','Disease','N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.'),('929','Achalasia-microcephaly syndrome','Malformation syndrome','An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.'),('93','Aspartylglucosaminuria','Disease','An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).'),('930','Idiopathic achalasia','Disease','Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.'),('931','Acheiropodia','Morphological anomaly','An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.'),('93100','Renal agenesis, unilateral','Clinical subtype','Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.'),('93101','Renal hypoplasia','Morphological anomaly','A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient`s age) with normal corticomedullary differentiation and reduced number of nephrons.'),('93108','Renal dysplasia','Morphological anomaly','Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.'),('93109','Congenital megacalycosis','Morphological anomaly','Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.'),('93110','Posterior urethral valve','Morphological anomaly','Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.'),('93111','HNF1B-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.'),('93114','Autosomal dominant intermediate Charcot-Marie-Tooth disease type E','Disease','A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).'),('93126','Pauci-immune glomerulonephritis','Disease','Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN, see this term). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis (see these terms)), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA (see these terms).'),('93160','Hypocalcemic vitamin D-resistant rickets','Disease','Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.'),('93164','Transient pseudohypoaldosteronism','Disease','A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.'),('93172','Renal dysplasia, unilateral','Clinical subtype','Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.'),('93173','Renal dysplasia, bilateral','Clinical subtype','Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.'),('93176','Unilateral congenital megacalycosis','Clinical subtype','no definition available'),('93177','Congenital bilateral megacalycosis','Clinical subtype','no definition available'),('93178','OBSOLETE: Partial prune belly syndrome','Clinical subtype','no definition available'),('932','Achondrogenesis','Disease','A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.'),('93206','OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis','Histopathological subtype','no definition available'),('93207','OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change','Histopathological subtype','no definition available'),('93209','OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation','Histopathological subtype','no definition available'),('93213','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis','Histopathological subtype','no definition available'),('93214','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation','Histopathological subtype','no definition available'),('93216','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes','Histopathological subtype','no definition available'),('93217','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis','Histopathological subtype','no definition available'),('93218','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis','Histopathological subtype','no definition available'),('93220','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis','Histopathological subtype','no definition available'),('93221','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes','Histopathological subtype','no definition available'),('93222','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation','Histopathological subtype','no definition available'),('93256','Fragile X-associated tremor/ataxia syndrome','Malformation syndrome','Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.'),('93258','Pfeiffer syndrome type 1','Clinical subtype','Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.'),('93259','Pfeiffer syndrome type 2','Clinical subtype','Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.'),('93260','Pfeiffer syndrome type 3','Clinical subtype','Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.'),('93262','Crouzon syndrome-acanthosis nigricans syndrome','Malformation syndrome','Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).'),('93267','Cloverleaf skull-multiple congenital anomalies syndrome','Malformation syndrome','This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.'),('93268','Short rib-polydactyly syndrome, Beemer-Langer type','Malformation syndrome','Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.'),('93269','Short rib-polydactyly syndrome, Majewski type','Malformation syndrome','no definition available'),('93270','Short rib-polydactyly syndrome, Saldino-Noonan type','Malformation syndrome','Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia, pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems.'),('93271','Short rib-polydactyly syndrome, Verma-Naumoff type','Malformation syndrome','Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.'),('93274','Thanatophoric dysplasia type 2','Clinical subtype','Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).'),('93275','Thanatophoric dysplasia, Glasgow variant','Clinical subtype','no definition available'),('93276','Polyostotic fibrous dysplasia','Clinical subtype','no definition available'),('93277','Monostotic fibrous dysplasia','Clinical subtype','no definition available'),('93279','Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis','Disease','Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.'),('93280','Spondyloepiphyseal dysplasia, Omani type','Disease','no definition available'),('93282','Spondyloepimetaphyseal dysplasia, PAPSS2 type','Disease','Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.'),('93283','Spondyloepiphyseal dysplasia, Kimberley type','Disease','Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.'),('93284','Spondyloepiphyseal dysplasia tarda','Disease','Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.'),('93292','Adenoma of pancreas','Disease','A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.'),('93293','Okihiro syndrome','Malformation syndrome','Okihiro syndrome is a syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.'),('93296','Achondrogenesis type 2','Clinical subtype','A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.'),('93297','Hypochondrogenesis','Clinical subtype','no definition available'),('93298','Achondrogenesis type 1B','Clinical subtype','A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.'),('93299','Achondrogenesis type 1A','Clinical subtype','A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.'),('93301','Brachyolmia type 1, Hobaek type','Malformation syndrome','no definition available'),('93302','Brachyolmia, Maroteaux type','Malformation syndrome','A relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.'),('93303','Brachyolmia type 1, Toledo type','Malformation syndrome','no definition available'),('93304','Autosomal dominant brachyolmia','Malformation syndrome','A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.'),('93307','Multiple epiphyseal dysplasia type 4','Disease','Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.'),('93308','Multiple epiphyseal dysplasia type 1','Disease','Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.'),('93311','Multiple epiphyseal dysplasia type 5','Disease','Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.'),('93313','OBSOLETE: Multiple epiphyseal dysplasia, unclassified type','Disease','no definition available'),('93314','Spondylometaphyseal dysplasia, Kozlowski type','Disease','Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.'),('93315','Spondylometaphyseal dysplasia, `corner fracture` type','Disease','Spondylometaphyseal dysplasia, `corner fracture` type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated `corner fractures` of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).'),('93316','Spondylometaphyseal dysplasia, Schmidt type','Disease','Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.'),('93317','Spondylometaphyseal dysplasia, Sedaghatian type','Malformation syndrome','Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.'),('93320','Ulnar hemimelia','Morphological anomaly','Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.'),('93321','Radial hemimelia','Morphological anomaly','Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.'),('93322','Tibial hemimelia','Morphological anomaly','Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.'),('93323','Fibular hemimelia','Morphological anomaly','Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.'),('93324','Autosomal recessive Kenny-Caffey syndrome','Etiological subtype','A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.'),('93325','Autosomal dominant Kenny-Caffey syndrome','Etiological subtype','A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.'),('93328','Autosomal dominant omodysplasia','Clinical subtype','no definition available'),('93329','Autosomal recessive omodysplasia','Clinical subtype','no definition available'),('93333','Pelviscapular dysplasia','Malformation syndrome','Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.'),('93334','Postaxial polydactyly type A','Morphological anomaly','no definition available'),('93335','Postaxial polydactyly type B','Morphological anomaly','no definition available'),('93336','Polydactyly of a triphalangeal thumb','Morphological anomaly','Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).'),('93337','Polydactyly of an index finger','Morphological anomaly','Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.'),('93338','Polysyndactyly','Morphological anomaly','Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.'),('93339','Polydactyly of a biphalangeal thumb','Morphological anomaly','Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.'),('93346','Spondyloepimetaphyseal dysplasia congenita, Strudwick type','Disease','Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).'),('93347','Anauxetic dysplasia','Disease','no definition available'),('93349','X-linked spondyloepimetaphyseal dysplasia','Disease','A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.'),('93351','Spondyloepimetaphyseal dysplasia, Irapa type','Disease','Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.'),('93352','Spondyloepimetaphyseal dysplasia, Shohat type','Disease','Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.'),('93356','Spondyloepimetaphyseal dysplasia, Missouri type','Disease','Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.'),('93357','SPONASTRIME dysplasia','Disease','A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.'),('93358','Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome','Disease','Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.'),('93359','Spondyloepimetaphyseal dysplasia with joint laxity','Disease','no definition available'),('93360','Spondyloepimetaphyseal dysplasia with multiple dislocations','Disease','Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.'),('93365','OBSOLETE: CINCA syndrome with NLRP3 mutations','Clinical subtype','no definition available'),('93367','OBSOLETE: CINCA syndrome without NLRP3 mutations','Clinical subtype','no definition available'),('93372','Familial hypocalciuric hypercalcemia type 1','Etiological subtype','no definition available'),('93382','Brachydactyly type A6','Malformation syndrome','Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.'),('93383','Brachydactyly type B','Malformation syndrome','Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.'),('93384','Brachydactyly type C','Malformation syndrome','Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.'),('93385','NON RARE IN EUROPE: Brachydactyly type D','Malformation syndrome','no definition available'),('93387','Brachydactyly type E','Malformation syndrome','Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.'),('93388','Brachydactyly type A1','Malformation syndrome','Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.'),('93389','Brachydactyly type A5','Malformation syndrome','no definition available'),('93393','NON RARE IN EUROPE: Brachydactyly type A3','Morphological anomaly','no definition available'),('93394','Brachydactyly type A4','Malformation syndrome','A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.'),('93395','Ballard syndrome','Malformation syndrome','no definition available'),('93396','Brachydactyly type A2','Malformation syndrome','Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.'),('93397','Brachydactyly type A7','Malformation syndrome','Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.'),('93398','Genochondromatosis type 2','Disease','Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.'),('93399','Juvenile sialidosis type 2','Clinical subtype','no definition available'),('93400','Congenital sialidosis type 2','Clinical subtype','no definition available'),('93402','Syndactyly type 1','Morphological anomaly','Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.'),('93403','Syndactyly type 2','Morphological anomaly','Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.'),('93404','Syndactyly type 3','Morphological anomaly','Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.'),('93405','Syndactyly type 4','Morphological anomaly','Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).'),('93406','Syndactyly type 5','Morphological anomaly','Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.'),('93409','Brachydactyly-syndactyly, Zhao type','Malformation syndrome','Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.'),('93419','Rare bone disease','Category','no definition available'),('93420','FGFR3-related chondrodysplasia','Category','no definition available'),('93421','Type 2 collagen-related bone disorder','Category','no definition available'),('93422','Type 11 collagen-related bone disorder','Category','no definition available'),('93423','Sulfation-related bone disorder','Category','no definition available'),('93424','Perlecan-related bone disorder','Category','no definition available'),('93425','Filamin-related bone disorder','Category','no definition available'),('93426','Ciliopathies with major skeletal involvement','Category','no definition available'),('93427','OBSOLETE: Metatropic dysplasias','Clinical group','no definition available'),('93429','Multiple epiphyseal dysplasia and pseudoachondroplasia','Category','no definition available'),('93430','Multiple metaphyseal dysplasia','Clinical group','no definition available'),('93434','Spondylodysplastic dysplasia','Clinical group','no definition available'),('93435','OBSOLETE: Moderate spondylodysplastic dysplasia','Clinical group','no definition available'),('93436','Acromelic dysplasia','Clinical group','no definition available'),('93437','Acromesomelic dysplasia','Clinical group','no definition available'),('93438','Mesomelic and rhizo-mesomelic dysplasia','Clinical group','no definition available'),('93439','Campomelic dysplasia and related disorders','Clinical group','no definition available'),('93440','Slender bone dysplasia','Clinical group','no definition available'),('93441','Primary bone dysplasia with multiple joint dislocations','Clinical group','no definition available'),('93442','Chondrodysplasia punctata','Clinical group','no definition available'),('93443','Neonatal osteosclerotic dysplasia','Clinical group','no definition available'),('93444','Primary bone dysplasia with increased bone density','Category','no definition available'),('93445','OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement','Clinical group','no definition available'),('93446','Primary bone dysplasia with decreased bone density','Category','no definition available'),('93447','Primary bone dysplasia with defective bone mineralization','Category','no definition available'),('93448','Lysosomal storage disease with skeletal involvement','Category','no definition available'),('93449','Primary osteolysis','Category','no definition available'),('93450','Primary bone dysplasia with disorganized development of skeletal components','Category','no definition available'),('93451','Cleidocranial dysplasia and isolated cranial ossification defect','Category','no definition available'),('93452','OBSOLETE: Craniosynostosis syndrome or cranial ossification disease','Clinical group','no definition available'),('93453','Dysostosis with predominant craniofacial involvement','Category','no definition available'),('93454','Dysostosis with predominant vertebral and costal involvement','Category','no definition available'),('93455','Patellar dysostosis','Category','no definition available'),('93456','OBSOLETE: Brachydactyly group','Clinical group','no definition available'),('93457','Non-syndromic limb reduction defect','Category','no definition available'),('93458','Non-syndromic polydactyly, syndactyly and/or hyperphalangy','Category','no definition available'),('93459','Syndrome with synostosis or other joint formation defect','Category','no definition available'),('93460','Overgrowth syndrome','Category','no definition available'),('93461','Chromosomal disease with overgrowth','Category','no definition available'),('93465','Lethal chondrodysplasia','Category','no definition available'),('93466','OBSOLETE: Limb-girdle bone anomaly','Clinical group','no definition available'),('93469','OBSOLETE: Harmonic micromelia','Clinical group','no definition available'),('93470','OBSOLETE: Dysharmonic micromelia','Clinical group','no definition available'),('93471','OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly','Clinical group','no definition available'),('93472','OBSOLETE: Dysmorphic syndrome associated with bone anomaly','Clinical group','no definition available'),('93473','Hurler syndrome','Clinical subtype','Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.'),('93474','Scheie syndrome','Clinical subtype','Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.'),('93476','Hurler-Scheie syndrome','Clinical subtype','Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.'),('935','Short-limb skeletal dysplasia with severe combined immunodeficiency','Disease','Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.'),('93545','Renal or urinary tract malformation','Category','no definition available'),('93546','Non-syndromic renal or urinary tract malformation','Category','no definition available'),('93547','Syndromic renal or urinary tract malformation','Category','no definition available'),('93548','Glomerular disease','Category','no definition available'),('93550','OBSOLETE: Basement membrane disease','Clinical group','no definition available'),('93551','OBSOLETE: Secondary glomerular disease','Category','no definition available'),('93552','Pediatric systemic lupus erythematosus','Disease','A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).'),('93554','Type II mixed cryoglobulinemia','Etiological subtype','Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).'),('93555','Mixed cryoglobulinemia type III','Etiological subtype','Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.'),('93556','Heavy chain deposition disease','Clinical subtype','no definition available'),('93557','Light and heavy chain deposition disease','Clinical subtype','no definition available'),('93558','Light chain deposition disease','Clinical subtype','no definition available'),('93559','C3 deposition glomerulonephritis without proliferation','Disease','no definition available'),('93560','AApoAI amyloidosis','Clinical subtype','A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.'),('93561','ALys amyloidosis','Clinical subtype','A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.'),('93562','AFib amyloidosis','Clinical subtype','A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.'),('93564','OBSOLETE: Pediatric polyarteritis nodosa','Clinical subtype','no definition available'),('93566','OBSOLETE: Pediatric Sjögren syndrome','Clinical subtype','no definition available'),('93567','OBSOLETE: Pediatric systemic sclerosis','Clinical subtype','no definition available'),('93568','Juvenile polymyositis','Disease','A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.'),('93569','Polymyalgia rheumatica','Disease','A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, which are exacerbated with inactivity and improve progressively over the day. Muscle tenderness, peripheral synovitis, arthritis, carpal tunnel syndrome or distal tenosynovitis, as well as non-specific symptoms, such as fatigue, asthenia, malaise, low-grade fever, anorexia and weight loss, may be associated. Acute phase reactants (erythrocyte sedimentation rate, C-reactive protein) are increased.'),('93571','Dense deposit disease','Histopathological subtype','Dense deposit disease, a histological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term).'),('93573','Thrombotic microangiopathy','Clinical group','no definition available'),('93575','OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly','Etiological subtype','no definition available'),('93576','OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly','Etiological subtype','no definition available'),('93578','OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly','Etiological subtype','no definition available'),('93579','OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly','Etiological subtype','no definition available'),('93580','OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly','Etiological subtype','no definition available'),('93581','Atypical hemolytic uremic syndrome with anti-factor H antibodies','Etiological subtype','no definition available'),('93583','Congenital thrombotic thrombocytopenic purpura','Clinical subtype','Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.'),('93585','Acquired thrombotic thrombocytopenic purpura','Clinical subtype','A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.'),('93587','Familial cystic renal disease','Category','no definition available'),('93589','Late-onset nephronophthisis','Clinical subtype','no definition available'),('93591','Infantile nephronophthisis','Clinical subtype','no definition available'),('93592','Juvenile nephronophthisis','Clinical subtype','no definition available'),('93593','Nephropathy secondary to a storage or other metabolic disease','Category','no definition available'),('93594','OBSOLETE: Alpha-1-antichymotrypsin deficiency','Disease','no definition available'),('93598','Primary hyperoxaluria type 1','Clinical subtype','no definition available'),('93599','Primary hyperoxaluria type 2','Clinical subtype','no definition available'),('936','Succinic acidemia','Disease','no definition available'),('93600','Primary hyperoxaluria type 3','Clinical subtype','no definition available'),('93601','Xanthinuria type I','Etiological subtype','Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.'),('93602','Xanthinuria type II','Etiological subtype','Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.'),('93603','Rare renal tubular disease','Category','no definition available'),('93604','Antenatal Bartter syndrome','Clinical subtype','A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome'),('93605','Classic Bartter syndrome','Clinical subtype','Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.'),('93606','Nephrogenic syndrome of inappropriate antidiuresis','Disease','Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.'),('93607','Autosomal recessive proximal renal tubular acidosis','Clinical subtype','Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.'),('93608','Autosomal dominant distal renal tubular acidosis','Clinical subtype','A rare inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.'),('93609','Autosomal recessive distal renal tubular acidosis without deafness','Clinical subtype','no definition available'),('93610','Distal renal tubular acidosis with anemia','Clinical subtype','Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia.'),('93611','Autosomal recessive distal renal tubular acidosis with deafness','Clinical subtype','no definition available'),('93612','Cystinuria type A','Etiological subtype','no definition available'),('93613','Cystinuria type B','Etiological subtype','no definition available'),('93614','Hematological disorder with renal involvement','Category','no definition available'),('93616','Hemoglobin H disease','Clinical subtype','Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia.'),('93618','Rare cause of hypertension','Category','no definition available'),('93619','Rare renal tumor','Category','no definition available'),('93622','Dent disease type 1','Clinical subtype','Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.'),('93623','Dent disease type 2','Clinical subtype','Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.'),('93626','Rare renal disease','Category','no definition available'),('93665','Autoinflammatory syndrome','Category','no definition available'),('93668','OBSOLETE: Adult chronic recurrent multifocal osteomyelitis','Clinical subtype','no definition available'),('93672','Juvenile dermatomyositis','Disease','Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.'),('93682','OBSOLETE: Pediatric Castleman disease','Clinical subtype','no definition available'),('93685','Unicentric Castleman disease','Clinical subtype','Localized Castleman disease (LCD) is the most common form of Castleman disease (CD; see this term) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.'),('93686','OBSOLETE: Multicentric Castleman disease','Clinical subtype','no definition available'),('93688','OBSOLETE: Non-idiopathic juvenile arthritis','Clinical group','no definition available'),('93890','Rare developmental defect during embryogenesis','Category','no definition available'),('939','3-hydroxyisobutyric aciduria','Disease','3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.'),('93921','Schwannomatosis','Disease','Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.'),('93924','Lobar holoprosencephaly','Clinical subtype','Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.'),('93925','Alobar holoprosencephaly','Clinical subtype','A disorder of the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.'),('93926','Midline interhemispheric variant of holoprosencephaly','Clinical subtype','Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.'),('93928','Isolated epispadias','Clinical subtype','A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.'),('93929','Cloacal exstrophy','Clinical subtype','A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.'),('93930','Bladder exstrophy','Clinical subtype','A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.'),('93932','FG syndrome type 1','Disease','no definition available'),('93937','OBSOLETE: Terminal transverse defects of arm','Morphological anomaly','no definition available'),('93938','Laryngotracheoesophageal cleft type 1','Clinical subtype','A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.'),('93939','Laryngotracheoesophageal cleft type 2','Clinical subtype','A congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.'),('93940','Laryngotracheoesophageal cleft type 3','Clinical subtype','A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.'),('93941','Laryngotracheoesophageal cleft type 4','Clinical subtype','A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.'),('93942','OBSOLETE: Superior celosomia','Morphological anomaly','no definition available'),('93943','Corpus callosum dysgenesis-hypopituitarism syndrome','Malformation syndrome','no definition available'),('93944','X-linked intellectual disability, Fichera type','Clinical subtype','no definition available'),('93945','X-linked intellectual disability, Porteous type','Clinical subtype','no definition available'),('93946','Hamel cerebro-palato-cardiac syndrome','Clinical subtype','An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.'),('93947','X-linked intellectual disability, Golabi-Ito-Hall type','Clinical subtype','An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.'),('93950','X-linked intellectual disability, Sutherland-Haan type','Clinical subtype','no definition available'),('93951','OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome','Disease','no definition available'),('93952','X-linked intellectual disability, Hedera type','Disease','X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.'),('93953','Familial thyroglossal duct cyst','Morphological anomaly','A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.'),('93955','OBSOLETE: Benign essential blepharospasm','Disease','no definition available'),('93956','OBSOLETE: Truncal dystonia','Disease','no definition available'),('93957','OBSOLETE: Limb dystonia','Disease','no definition available'),('93958','Oromandibular dystonia','Disease','A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.'),('93961','OBSOLETE: Laryngeal dyskinesia','Disease','no definition available'),('93962','OBSOLETE: Cervical dystonia','Disease','no definition available'),('93963','OBSOLETE: Autosomal dominant focal dystonia, DYT7 type','Disease','no definition available'),('93964','Blepharospasm-oromandibular dystonia syndrome','Disease','A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.'),('93968','Meningocele','Disease','no definition available'),('93969','Myelomeningocele','Morphological anomaly','A rare neural tube closure defect characterized by protrusion of the spinal cord and meninges from the spinal column into a fluid-filled sac at the location of the defect. Clinical signs are variable, depending on location and severity of the lesion, but may include bladder and bowel dysfunction, hydrocephalus, and/or partial or complete paralysis of the lower limbs, among others.'),('93970','Holmes-Gang syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93971','Chudley-Lowry-Hoar syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies).'),('93972','Juberg-Marsidi syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93973','Carpenter-Waziri syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93974','Smith-Fineman-Myers syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93975','Renier-Gabreels-Jasper syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93976','Anotia','Morphological anomaly','A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.'),('94','Astrocytoma','Clinical group','A complex group of benign and malignant cerebral tumors arising at any age.'),('94056','Humero-ulnar synostosis','Morphological anomaly','no definition available'),('94058','Neovascular glaucoma','Particular clinical situation in a disease or syndrome','Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.'),('94059','Uremic pruritus','Particular clinical situation in a disease or syndrome','no definition available'),('94061','OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome','Disease','no definition available'),('94062','NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome','Disease','no definition available'),('94063','12q14 microdeletion syndrome','Malformation syndrome','12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.'),('94064','Deafness-infertility syndrome','Malformation syndrome','Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.'),('94065','15q24 microdeletion syndrome','Etiological subtype','15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.'),('94066','Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia','Malformation syndrome','Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.'),('94068','Spondyloepiphyseal dysplasia congenita','Disease','Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.'),('94075','Severe immune-mediated enteropathy','Category','Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.'),('94080','Non-functioning paraganglioma','Disease','A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.'),('94083','Partington syndrome','Malformation syndrome','Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.'),('94084','Cerebro-oculo-facial-lymphatic syndrome','Malformation syndrome','no definition available'),('94086','Blue diaper syndrome','Disease','Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.'),('94087','Cytophagic histiocytic panniculitis','Disease','Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.'),('94088','Hereditary renal hypouricemia','Malformation syndrome','A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).'),('94089','Pseudohypoparathyroidism type 1B','Disease','Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.'),('94090','Pseudohypoparathyroidism type 2','Disease','Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright`s hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.'),('94091','Mills syndrome','Disease','A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.'),('94093','Neuroleptic malignant syndrome','Disease','A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.'),('94095','Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome','Malformation syndrome','Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.'),('941','D-glyceric aciduria','Disease','D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.'),('94122','Cerebellar ataxia, Cayman type','Disease','A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.'),('94124','Spinocerebellar ataxia with axonal neuropathy type 1','Disease','Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.'),('94125','Recessive mitochondrial ataxia syndrome','Disease','Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.'),('94145','Autosomal dominant cerebellar ataxia type I','Clinical group','A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.'),('94147','Spinocerebellar ataxia type 7','Disease','An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.'),('94148','Autosomal dominant cerebellar ataxia type III','Clinical group','A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer`s cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.'),('94149','Autosomal dominant cerebellar ataxia type IV','Clinical group','no definition available'),('94150','Anonychia congenita totalis','Clinical subtype','no definition available'),('943','Malonic aciduria','Disease','Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).'),('945','Acalvaria','Malformation syndrome','A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.'),('946','Acrocephalosyndactyly','Clinical group','A rare group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.'),('949','Acrocraniofacial dysostosis','Malformation syndrome','A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.'),('95','Friedreich ataxia','Disease','Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.'),('950','Acrodysostosis','Malformation syndrome','An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.'),('95157','Acute hepatic porphyria','Clinical group','A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).'),('95159','Hepatoerythropoietic porphyria','Disease','Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.'),('95161','Chronic hepatic porphyria','Clinical group','Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).'),('952','Acrofacial dysostosis, Weyers type','Malformation syndrome','A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.'),('95232','Lissencephaly due to LIS1 mutation','Disease','Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.'),('953','OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type','Malformation syndrome','no definition available'),('95409','Acute adrenal insufficiency','Clinical syndrome','A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.'),('95426','OBSOLETE: Chronic pain requiring intraspinal analgesia','Particular clinical situation in a disease or syndrome','no definition available'),('95427','Secondary short bowel syndrome','Disease','Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.'),('95428','COG8-CDG','Disease','The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.'),('95429','Angioma serpiginosum','Disease','A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.'),('95430','Congenital tracheomalacia','Morphological anomaly','Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.'),('95431','Twin to twin transfusion syndrome','Disease','Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated'),('95432','Primary progressive aphasia','Clinical group','Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).'),('95433','Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome','Disease','no definition available'),('95434','Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome','Disease','A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.'),('95443','Mesocardia','Morphological anomaly','A rare, congenital non-syndromic heart malformation characterized by an atypical location of the heart in a central position in the thorax, with the apex in the midline of the thorax. Atria are usually situs solitus, whereas ventricles may be situs inversus. Various congenital heart anomalies and visceral situs inversus have also been associated.'),('95448','Congenital aortic valve atresia','Clinical subtype','no definition available'),('95449','OBSOLETE: Congenital aortic valve insufficiency','Morphological anomaly','no definition available'),('95455','Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum','Disease','Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.'),('95457','Tricuspid valve agenesis','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.'),('95458','Tricuspid valve prolapse','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by bulking of tricuspid valve into the right atrium during systole. It can be isolated, but is more often associated with mitral valve prolapse or with other cardiac and lung diseases. Clinical presentation depends on severity and associated findings and there is a high incidence of cardiac arrhythmias and possible bacterial endocarditis.'),('95459','Congenital tricuspid stenosis','Morphological anomaly','no definition available'),('95461','Straddling or overriding tricuspid valve','Morphological anomaly','Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.'),('95462','Accessory tricuspid valve tissue','Morphological anomaly','A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.'),('95463','Anomaly of the tricuspid subvalvular apparatus','Category','no definition available'),('95464','Congenital mitral valve insufficiency and/or stenosis','Category','no definition available'),('95465','Cleft mitral valve','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies.'),('95474','Double-orifice mitral valve','Clinical subtype','A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported.'),('95483','Univentricular cardiopathy','Category','no definition available'),('95484','OBSOLETE: Aneurysm or dilatation of ascending aorta','Morphological anomaly','no definition available'),('95485','Arterial duct anomaly','Category','no definition available'),('95486','Premature closure of the arterial duct','Morphological anomaly','Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.'),('95487','NON RARE IN EUROPE: Atypical arterial duct','Disease','no definition available'),('95488','Non-acquired pituitary hormone deficiency','Category','no definition available'),('95491','Congenital coronary artery aneurysm','Morphological anomaly','Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.'),('95493','OBSOLETE: Abnormal origin or aberrant course of coronary artery','Clinical group','no definition available'),('95494','Combined pituitary hormone deficiencies, genetic forms','Disease','Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.'),('95495','Disease associated with non-acquired combined pituitary hormone deficiency','Category','no definition available'),('95496','Pituitary stalk interruption syndrome','Morphological anomaly','Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.'),('95498','Congenital anomaly of superior vena cava','Category','no definition available'),('95499','Congenital anomaly of the inferior vena cava','Category','no definition available'),('955','Acroosteolysis dominant type','Malformation syndrome','A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.'),('95500','Congenital anomaly of the coronary sinus','Category','no definition available'),('95501','OBSOLETE: Congenital central diabetes insipidus','Clinical group','no definition available'),('95502','Acquired pituitary hormone deficiency','Category','no definition available'),('95503','Pituitary hormone deficiency of tumoral origin','Category','no definition available'),('95504','OBSOLETE: Metastatic pituitary hormone deficiency','Clinical group','no definition available'),('95505','Pituitary hormone deficiency of meningeal origin','Category','no definition available'),('95506','Primary hypophysitis','Clinical group','no definition available'),('95507','Congenital anomaly of hepatic vein','Morphological anomaly','no definition available'),('95510','Atrial appendage anomaly','Category','no definition available'),('95512','Adenohypophysitis','Disease','A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.'),('95513','Panhypophysitis','Disease','Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.'),('956','Acropectororenal dysplasia','Malformation syndrome','no definition available'),('95611','Pituitary hormone deficiency of vascular origin','Category','no definition available'),('95613','Pituitary apoplexy','Disease','A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. Acute endocrine dysfunction may also be present, most commonly corticotropic deficiency with severe hypotension and hyponatremia as well as secondary adrenal failure, but also thyrotropic and gonadotropic deficiency.'),('95614','OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage','Disease','no definition available'),('95615','OBSOLETE: Pituitary deficiency secondary to an anevrysm','Clinical group','no definition available'),('95617','Pituitary hormone deficiency secondary to a granulomatous disease','Category','no definition available'),('95618','Pituitary hormone deficiency secondary to storage disease','Category','no definition available'),('95619','Post-traumatic pituitary deficiency','Disease','Iatrogenic or traumatic pituitary deficiency is a rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.'),('95621','OBSOLETE: Postsurgical hypopituitarism','Disease','no definition available'),('95622','OBSOLETE: Radiation-induced hypopituitarism','Disease','no definition available'),('95623','OBSOLETE: Posttraumatic hypopituitarism','Disease','no definition available'),('95625','OBSOLETE: Posttraumatic diabetes insipidus','Disease','no definition available'),('95626','Acquired central diabetes insipidus','Clinical subtype','A subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.'),('95698','NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency','Disease','no definition available'),('95699','Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency','Disease','Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.'),('957','Acropectorovertebral dysplasia','Malformation syndrome','A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).'),('95700','Familial adrenal hypoplasia with absent pituitary luteinizing hormone','Disease','Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.'),('95701','OBSOLETE: Congenital adrenal hypoplasia of maternal cause','Disease','no definition available'),('95702','Cytomegalic congenital adrenal hypoplasia','Disease','no definition available'),('95706','Posterior hypospadias','Morphological anomaly','Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.'),('95707','Idiopathic isolated micropenis','Morphological anomaly','A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.'),('95708','Rare precocious puberty','Category','no definition available'),('95709','Acquired premature ovarian failure','Category','no definition available'),('95710','Non-acquired premature ovarian failure','Category','no definition available'),('95711','Congenital hypothyroidism due to developmental anomaly','Category','Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.'),('95712','Thyroid ectopia','Morphological anomaly','Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.'),('95713','Athyreosis','Morphological anomaly','A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.'),('95714','Primary congenital hypothyroidism without thyroid developmental anomaly','Category','Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.'),('95715','Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies','Disease','Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent.'),('95716','Familial thyroid dyshormonogenesis','Disease','Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.'),('95717','Idiopathic congenital hypothyroidism','Disease','Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.'),('95718','Congenital thyroid malformation without hypothyroidism','Category','no definition available'),('95719','Thyroid hemiagenesis','Morphological anomaly','Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.'),('95720','Thyroid hypoplasia','Morphological anomaly','Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.'),('95721','OBSOLETE: Thyroid pyramidal lobe','Morphological anomaly','no definition available'),('958','Acro-renal-mandibular syndrome','Malformation syndrome','A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.'),('95854','Levocardia','Morphological anomaly','A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by the heart located in the normal (levo) position associated with abdominal viscera located in the dextro position. Cardiac (e.g. interrupted inferior vena cava with azygous continuation) and/or splenic (asplenia, polysplenia) anomalies, as well as intestinal malrotation, are frequently associated.'),('959','Acro-renal-ocular syndrome','Malformation syndrome','A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome.'),('96','Ataxia with vitamin E deficiency','Disease','A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.'),('96055','Tetrasomy 21','Malformation syndrome','Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.'),('96059','Mosaic trisomy 4','Malformation syndrome','Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.'),('96060','Mosaic trisomy 5','Malformation syndrome','Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.'),('96061','Mosaic trisomy 8','Malformation syndrome','Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.'),('96063','Mosaic trisomy 10','Malformation syndrome','Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.'),('96068','Mosaic trisomy 22','Malformation syndrome','Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.'),('96069','Distal trisomy 1p36','Malformation syndrome','Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.'),('96070','Distal trisomy 2p','Malformation syndrome','Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.'),('96071','Distal trisomy 3p','Malformation syndrome','Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.'),('96072','4p16.3 microduplication syndrome','Malformation syndrome','4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.'),('96074','Distal trisomy 7p','Malformation syndrome','Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.'),('96076','Beckwith-Wiedemann syndrome due to 11p15 microduplication','Etiological subtype','no definition available'),('96078','16p13.3 microduplication syndrome','Malformation syndrome','16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.'),('96092','8p inverted duplication/deletion syndrome','Malformation syndrome','8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.'),('96094','Distal trisomy 2q','Malformation syndrome','Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.'),('96095','3q26 microduplication syndrome','Malformation syndrome','3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.'),('96096','Distal trisomy 4q','Malformation syndrome','Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.'),('96097','Distal trisomy 5q','Malformation syndrome','Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).'),('96098','Distal trisomy 6q','Malformation syndrome','Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.'),('96100','Distal trisomy 8q','Malformation syndrome','Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).'),('96101','Distal trisomy 9q','Malformation syndrome','Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.'),('96102','Distal trisomy 10q','Malformation syndrome','Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.'),('96103','Distal trisomy 11q','Malformation syndrome','Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.'),('96105','Distal trisomy 13q','Malformation syndrome','Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.'),('96106','Distal trisomy 16q','Malformation syndrome','Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.'),('96107','Distal trisomy 20q','Malformation syndrome','Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.'),('96109','Distal trisomy 22q','Malformation syndrome','Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.'),('96112','Non-distal trisomy 9q','Malformation syndrome','Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.'),('96121','7q11.23 microduplication syndrome','Malformation syndrome','7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.'),('96123','Monosomy 22','Malformation syndrome','A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.'),('96125','Distal monosomy 6p','Malformation syndrome','Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.'),('96126','Distal monosomy 7p','Malformation syndrome','Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.'),('96129','Distal monosomy 19p13.3','Malformation syndrome','Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).'),('96136','OBSOLETE: Non-distal monosomy 7p','Malformation syndrome','no definition available'),('96145','Distal monosomy 4q','Malformation syndrome','Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.'),('96147','Kleefstra syndrome due to 9q34 microdeletion','Etiological subtype','no definition available'),('96148','Distal monosomy 10q','Malformation syndrome','Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.'),('96149','Distal monosomy 12q','Malformation syndrome','no definition available'),('96150','Distal monosomy 14q','Malformation syndrome','Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.'),('96152','Distal monosomy 20q','Malformation syndrome','A rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 20, with a highly variable phenotype typically characterized by global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (e.g. autism spectrum disorder behaviors) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip, and microretrognathia, may be occasionally associated.'),('96160','Non-distal monosomy 12q','Malformation syndrome','Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.'),('96164','Non-distal monosomy 20q','Malformation syndrome','no definition available'),('96167','Recombinant 8 syndrome','Malformation syndrome','Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.'),('96168','Monosomy 13q34','Malformation syndrome','Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.'),('96169','Koolen-De Vries syndrome','Malformation syndrome','A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.'),('96170','Emanuel syndrome','Malformation syndrome','Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.'),('96171','Ring chromosome 2 syndrome','Malformation syndrome','Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).'),('96172','Ring chromosome 3 syndrome','Malformation syndrome','Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.'),('96173','Ring chromosome 9 syndrome','Malformation syndrome','Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.'),('96175','Ring chromosome 11 syndrome','Malformation syndrome','Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.'),('96176','Ring chromosome 13 syndrome','Malformation syndrome','Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.'),('96177','Ring chromosome 15 syndrome','Malformation syndrome','Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).'),('96178','Ring chromosome 16 syndrome','Malformation syndrome','Ring chromosome 16 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.'),('96179','Maternal uniparental disomy of chromosome 2','Malformation syndrome','Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('96180','Maternal uniparental disomy of chromosome 4','Malformation syndrome','Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('96181','Maternal uniparental disomy of chromosome 6','Malformation syndrome','Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.'),('96182','Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7','Etiological subtype','Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).'),('96183','Maternal uniparental disomy of chromosome 9','Malformation syndrome','Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('96184','Temple syndrome due to maternal uniparental disomy of chromosome 14','Etiological subtype','Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).'),('96185','Maternal uniparental disomy of chromosome 16','Malformation syndrome','Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.'),('96186','Maternal uniparental disomy of chromosome 20','Malformation syndrome','Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.'),('96187','Maternal uniparental disomy of chromosome 21','Malformation syndrome','Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.'),('96188','Maternal uniparental disomy of chromosome 22','Malformation syndrome','Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.'),('96190','Paternal uniparental disomy of chromosome 5','Malformation syndrome','Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('96191','Paternal uniparental disomy of chromosome 6','Malformation syndrome','Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.'),('96192','Paternal uniparental disomy of chromosome 7','Malformation syndrome','Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).'),('96193','Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11','Etiological subtype','no definition available'),('96194','Paternal uniparental disomy of chromosome 20','Malformation syndrome','Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.'),('96195','Paternal uniparental disomy of chromosome 21','Malformation syndrome','Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('96201','X small rings','Malformation syndrome','X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.'),('96210','Rare genetic deafness','Category','no definition available'),('96253','Cushing disease','Disease','Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.'),('96256','Somatotropic adenoma','Clinical group','no definition available'),('96263','48,XXXY syndrome','Malformation syndrome','The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.'),('96264','49,XXXXY syndrome','Malformation syndrome','The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.'),('96265','Leydig cell hypoplasia due to complete LH resistance','Clinical subtype','no definition available'),('96266','Leydig cell hypoplasia due to partial LH resistance','Clinical subtype','no definition available'),('96269','Isolated partial vaginal agenesis','Morphological anomaly','A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.'),('963','Acromegaly','Disease','A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.'),('96321','Polyploidy','Category','no definition available'),('96325','Isochromosome Y','Category','no definition available'),('96333','Rare otorhinolaryngological malformation','Category','no definition available'),('96334','Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14','Etiological subtype','no definition available'),('96344','Rare gynecologic or obstetric disease','Category','no definition available'),('96346','Anorectal malformation','Category','no definition available'),('96369','Early-onset schizophrenia','Disease','A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.'),('964','Acromegaly-cutis verticis gyrata-corneal leukoma syndrome','Malformation syndrome','no definition available'),('965','Acromegaloid facial appearance syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.'),('966','Hypertrichosis-acromegaloid facial appearance syndrome','Malformation syndrome','Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).'),('968','Acromesomelic dysplasia, Hunter-Thompson type','Malformation syndrome','A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.'),('969','Acromicric dysplasia','Malformation syndrome','A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.'),('97','Familial paroxysmal ataxia','Disease','Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.'),('970','Hereditary sensory and autonomic neuropathy type 2','Disease','A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.'),('971','Acrorenal syndrome','Malformation syndrome','A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.'),('97120','Distal arthrogryposis','Clinical group','no definition available'),('972','Hereditary continuous muscle fiber activity','Disease','Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.'),('97214','Eisenmenger syndrome','Malformation syndrome','A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.'),('97229','Riboflavin transporter deficiency','Malformation syndrome','A syndromic genetic deafness characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.'),('97230','Solar urticaria','Disease','A rare photodermatosis characterized by an abrupt onset of transient erythema, wheals, and pruritus appearing within minutes of exposure to light.'),('97231','Ligneous conjunctivitis','Disease','no definition available'),('97232','Fingerprint body myopathy','Disease','Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.'),('97234','Glycogen storage disease due to phosphoglycerate mutase deficiency','Disease','Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).'),('97238','Rippling muscle disease','Disease','Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.'),('97239','Reducing body myopathy','Disease','Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.'),('97240','Zebra body myopathy','Disease','Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.'),('97242','Congenital muscular dystrophy','Category','Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).'),('97244','Rigid spine syndrome','Disease','Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.'),('97245','Congenital myopathy','Category','no definition available'),('97249','Pontocerebellar hypoplasia type 3','Malformation syndrome','Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.'),('97252','Mega-cisterna magna','Morphological anomaly','A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.'),('97253','Neuroendocrine tumor of pancreas','Category','Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).'),('97261','GRFoma','Disease','GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms).'),('97275','Encephalitis','Category','no definition available'),('97278','PPoma','Disease','PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).'),('97279','Insulinoma','Disease','Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.'),('97280','Glucagonoma','Disease','Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.'),('97282','VIPoma','Disease','VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).'),('97283','Somatostatinoma','Disease','Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.'),('97285','Thyroid lymphoma','Disease','no definition available'),('97286','Carney-Stratakis syndrome','Disease','Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.'),('97287','Bronchial neuroendocrine tumor','Disease','no definition available'),('97289','Thymic neuroendocrine tumor','Disease','Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.'),('97290','Familial papillary thyroid carcinoma with renal papillary neoplasia','Disease','Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term).'),('97292','Cardiogenic shock','Particular clinical situation in a disease or syndrome','no definition available'),('97293','Rare benign ovarian tumor','Category','no definition available'),('97295','Furlong syndrome','Malformation syndrome','no definition available'),('97297','Bohring-Opitz syndrome','Malformation syndrome','A rare, life-threatening mutliple congenital anomalies syndrome characterized by intrauterine growth restriction, postnatal failure to thrive and facial dysmorphism (microcephaly or trigonocephaly, prominent glabellar nevus flammeus (simplex) fading with age, hypotonic facies, low frontal and temporal hairline, hirsutism, synophrys, prominent or proptotic eyes, hypertelorism, upslanting palpebral fissures, depressed and wide nasal bridge, anteverted nares, full cheeks, low-set and posteriorly angulated ears, cleft lip and/or palate, high arched palate, micrognathia and/or retrognathia). A specific posture (BOS posture) is also reported, characterized by external rotation and/or adduction of the shoulders, flexion at the elbows and wrists, ulnar deviation of the wrists and/or the metacarpophalangeal joints. Additional features mainly include severe feeding difficulties, chronic emesis, recurrent infections, hypertrichosis, seizures, truncal hypotonia and hypertonic extremities, as well as cerebral, ocular, cardiac, and other skeletal anomalies, central obesity, severe intellectual disability, sleep disturbance, urinary retention, and an increased risk for renal stones and Wilms tumor.'),('973','Congenital absence/hypoplasia of fingers excluding thumb, unilateral','Morphological anomaly','Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.'),('97330','Thoracic outlet syndrome','Disease','Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms).'),('97332','Kienbock disease','Disease','Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.'),('97335','Osgood-Schlatter disease','Disease','Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.'),('97336','Panner disease','Disease','Panner`s disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.'),('97337','Sinding-Larsen-Johansson disease','Disease','Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.'),('97338','Melanoma of soft tissue','Disease','A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.'),('97339','Dural sinus malformation','Morphological anomaly','A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.'),('97340','Hunter-McAlpine craniosynostosis','Malformation syndrome','Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).'),('97341','Persistent placoid maculopathy','Disease','Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.'),('97342','OBSOLETE: Argyrophilic grain disease','Disease','no definition available'),('97345','ABri amyloidosis','Clinical subtype','A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.'),('97346','ADan amyloidosis','Clinical subtype','A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.'),('97349','Postencephalitic parkinsonism','Disease','no definition available'),('97352','Pellagra','Disease','Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.'),('97353','Dementia pugilistica','Disease','A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.'),('97354','NON RARE IN EUROPE: Wernicke encephalopathy','Disease','no definition available'),('97355','Caribbean parkinsonism','Disease','Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.'),('97360','Robinow syndrome','Malformation syndrome','Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.'),('97361','Renal hypoplasia, unilateral','Clinical subtype','A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood'),('97362','Renal hypoplasia, bilateral','Clinical subtype','A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure.'),('97363','Unilateral multicystic dysplastic kidney','Clinical subtype','A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.'),('97364','Bilateral multicystic dysplastic kidney','Clinical subtype','A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.'),('97365','NON RARE IN EUROPE: Solitary renal cyst','Malformation syndrome','no definition available'),('97366','Multiloculated renal cyst','Morphological anomaly','no definition available'),('97367','Renal tubular dysgenesis due to twin-twin transfusion','Etiological subtype','`Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS; see this term) is an acquired form of renal tubular dysgenesis (see this term) that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).`'),('97368','Drug-related renal tubular dysgenesis','Etiological subtype','no definition available'),('97369','Renal tubular dysgenesis of genetic origin','Etiological subtype','no definition available'),('974','Adams-Oliver syndrome','Malformation syndrome','A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.'),('97548','Right sided atrial isomerism','Malformation syndrome','no definition available'),('97552','Steroid-sensitive nephrotic syndrome without renal biopsy','Etiological subtype','no definition available'),('97555','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy','Histopathological subtype','no definition available'),('97556','Congenital and infantile nephrotic syndrome','Clinical group','no definition available'),('97557','NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis','Disease','no definition available'),('97560','Primary membranous glomerulonephritis','Disease','A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome.'),('97562','NON RARE IN EUROPE: Benign familial hematuria','Disease','no definition available'),('97563','Pauci-immune glomerulonephritis with ANCA','Clinical subtype','Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis (see this term), and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.'),('97564','Pauci-immune glomerulonephritis without ANCA','Clinical subtype','Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis (see this term) and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA (see this term), patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.'),('97566','Non-amyloid fibrillary glomerulopathy','Disease','Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases.'),('97567','Immunotactoid glomerulopathy','Disease','Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases.'),('97569','OBSOLETE: Unclassified glomerulonephritis','Clinical group','no definition available'),('97593','Pseudohypoparathyroidism','Category','Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).'),('97598','Congenital renal artery stenosis','Disease','no definition available'),('97599','OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis','Disease','no definition available'),('976','Adenine phosphoribosyltransferase deficiency','Disease','A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.'),('97668','OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency','Etiological subtype','no definition available'),('97678','Maternal uniparental disomy of chromosome 13','Malformation syndrome','Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('97685','17q11 microdeletion syndrome','Clinical subtype','17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.'),('977','Adrenomyodystrophy','Disease','An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.'),('978','ADULT syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.'),('97927','OBSOLETE: Peripheral resistance to thyroid hormones','Disease','no definition available'),('97929','Rare cardiac disease','Category','no definition available'),('97935','Rare gastroenterologic disease','Category','no definition available'),('97944','Gastroduodenal malformation','Category','no definition available'),('97945','Intestinal malformation','Category','no definition available'),('97955','Rare respiratory disease','Category','no definition available'),('97957','Respiratory or thoracic malformation','Category','no definition available'),('97962','Rare surgical thoracic disease','Category','no definition available'),('97965','Rare surgical cardiac disease','Category','no definition available'),('97966','Rare ophthalmic disorder','Category','no definition available'),('97978','Rare endocrine disease','Category','no definition available'),('97992','Rare hematologic disease','Category','no definition available'),('98','Autosomal recessive spastic ataxia of Charlevoix-Saguenay','Disease','Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.'),('980','Absence of the pulmonary artery','Morphological anomaly','Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM, see this term). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.'),('98004','Rare immune disease','Category','no definition available'),('98006','Rare neurologic disease','Category','no definition available'),('98010','Infectious disease of the nervous system','Category','no definition available'),('98022','Rare headache','Category','no definition available'),('98023','Rare systemic or rheumatologic disease','Category','no definition available'),('98026','Rare odontologic disease','Category','no definition available'),('98027','Rare disease with odontological manifestation','Category','no definition available'),('98028','Rare circulatory system disease','Category','no definition available'),('98033','Rare neurologic disease with psychiatric involvement','Category','no definition available'),('98036','Rare otorhinolaryngologic disease','Category','no definition available'),('98038','Cranial malformation','Category','no definition available'),('98039','Digestive tract malformation','Category','no definition available'),('98041','Visceral malformation of the liver, biliary tract, pancreas or spleen','Category','no definition available'),('98043','Diaphragmatic or abdominal wall malformation','Category','no definition available'),('98044','Central nervous system malformation','Category','no definition available'),('98045','Respiratory or mediastinal malformation','Category','no definition available'),('98047','Rare infertility','Category','no definition available'),('98048','Rare male infertility','Category','no definition available'),('98049','Rare female infertility','Category','no definition available'),('98050','Rare allergic disease','Category','no definition available'),('98052','Rare allergic respiratory disease','Category','no definition available'),('98053','Rare genetic disease','Category','no definition available'),('98054','Rare genetic cardiac disease','Category','no definition available'),('98056','Rare genetic renal disease','Category','no definition available'),('98057','Rare tumor','Category','no definition available'),('98058','Rare urinary tract tumor','Category','no definition available'),('98059','Rare digestive tumor','Category','no definition available'),('98060','Rare respiratory tumor','Category','no definition available'),('98061','Rare otorhinolaryngologic tumor','Category','no definition available'),('98062','Rare nervous system tumor','Category','no definition available'),('98063','Rare gynecological tumor','Category','no definition available'),('98064','OBSOLETE: Rare disease in physical medicine and rehabilitation','Clinical group','no definition available'),('98068','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly','Category','no definition available'),('98069','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy','Category','no definition available'),('98070','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine','Category','no definition available'),('98071','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation','Category','no definition available'),('98073','OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia','Category','no definition available'),('98074','Gonadal dysgenesis of gynecological interest','Category','no definition available'),('98078','46,XX disorder of sex development induced by androgens excess','Category','no definition available'),('98085','46,XY disorder of sex development','Category','no definition available'),('98086','46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue','Category','no definition available'),('98087','Syndrome with 46,XY disorder of sex development','Category','no definition available'),('98095','Autosomal recessive congenital cerebellar ataxia','Category','no definition available'),('98096','Autosomal recessive metabolic cerebellar ataxia','Category','no definition available'),('98097','Autosomal recessive cerebellar ataxia due to a DNA repair defect','Category','no definition available'),('98098','Autosomal recessive degenerative and progressive cerebellar ataxia','Category','no definition available'),('98099','Autosomal recessive syndromic cerebellar ataxia','Category','no definition available'),('981','Internal carotid agenesis','Morphological anomaly','Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.'),('98101','OBSOLETE: Pore-loop channelopathy','Category','no definition available'),('98102','OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect','Category','no definition available'),('98103','OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect','Category','no definition available'),('98104','OBSOLETE: Channelopathy due to a transient receptor potential channel defect','Category','no definition available'),('98105','OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels','Category','no definition available'),('98106','OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect','Category','no definition available'),('98107','OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect','Category','no definition available'),('98108','OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect','Category','no definition available'),('98109','OBSOLETE: Non-pore-loop channelopathy','Category','no definition available'),('98110','OBSOLETE: Channelopathy due to an epithelial sodium channel defect','Category','no definition available'),('98111','OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect','Category','no definition available'),('98112','OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect','Category','no definition available'),('98113','OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly','Category','no definition available'),('98114','OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly','Category','no definition available'),('98115','OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly','Category','no definition available'),('98116','OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly','Category','no definition available'),('98117','OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly','Category','no definition available'),('98118','OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly','Category','no definition available'),('98119','OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly','Category','no definition available'),('98120','OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly','Category','no definition available'),('98121','OBSOLETE: Cys-loop receptor channelopathy','Category','no definition available'),('98122','OBSOLETE: Channelopathy due to a neuronal glycine receptor defect','Category','no definition available'),('98123','OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect','Category','no definition available'),('98124','OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect','Category','no definition available'),('98125','OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect','Category','no definition available'),('98127','Autosomal anomaly','Category','no definition available'),('98130','Autosomal trisomy','Category','no definition available'),('98131','Total autosomal trisomy','Category','no definition available'),('98132','Partial autosomal trisomy/tetrasomy','Category','no definition available'),('98141','Total autosomal monosomy','Category','no definition available'),('98142','Partial autosomal monosomy','Category','no definition available'),('98152','Autosomal uniparental disomy','Category','no definition available'),('98153','Maternal uniparental disomy','Category','no definition available'),('98154','Paternal uniparental disomy','Category','no definition available'),('98155','Sex-chromosome anomaly','Category','no definition available'),('98156','Sex-chromosome number anomaly','Category','no definition available'),('98157','Sex-chromosome structural anomaly','Category','no definition available'),('98158','Chromosome Y structural anomaly','Category','no definition available'),('98159','Chromosome X structural anomaly','Category','no definition available'),('98167','OBSOLETE: Diabetes associated to exocrine pancreas neoplasia','Clinical group','no definition available'),('98196','Malformation syndrome with hamartosis','Category','no definition available'),('982','Pulmonary valve agenesis','Clinical group','Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.'),('98203','Combined dystonia','Category','no definition available'),('98204','OBSOLETE: Heredodegenerative disease with dystonia as a major feature','Clinical group','no definition available'),('98249','Ehlers-Danlos syndrome','Clinical group','A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.'),('98252','Infectious encephalitis','Category','no definition available'),('98253','Postinfectious encephalitis','Category','no definition available'),('98255','Chronic encephalitis','Category','no definition available'),('98257','Neonatal epilepsy syndrome','Category','no definition available'),('98258','Infantile epilepsy syndrome','Category','no definition available'),('98259','Childhood-onset epilepsy syndrome','Category','no definition available'),('98260','Adolescent-onset epilepsy syndrome','Category','no definition available'),('98261','Progressive myoclonic epilepsy','Clinical group','no definition available'),('98267','Genetic non-syndromic obesity','Disease','A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.'),('98274','Myeloproliferative neoplasm','Clinical group','no definition available'),('98275','Myelodysplastic/myeloproliferative disease','Clinical group','no definition available'),('98277','Acute myeloid leukemia with recurrent genetic anomaly','Category','no definition available'),('98282','Plasma cell tumor','Category','no definition available'),('98287','Histiocytic and dendritic cell tumor','Category','no definition available'),('98288','Macrophage or histiocytic tumor','Category','no definition available'),('98289','Dendritic cell tumor','Category','no definition available'),('98290','Immunodeficiency-associated lymphoproliferative disease','Category','no definition available'),('98291','Lymphoproliferative disease associated with primary immune disease','Category','no definition available'),('98292','Mastocytosis','Category','no definition available'),('98293','Hodgkin lymphoma','Clinical group','Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.'),('98296','OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly','Category','no definition available'),('98297','OBSOLETE: Ichthyosis associated with a protein catabolism anomaly','Category','no definition available'),('98298','OBSOLETE: Ichthyosis associated with a peroxisomal disease','Category','no definition available'),('98299','OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly','Category','no definition available'),('983','Testicular regression syndrome','Morphological anomaly','Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.'),('98300','Idiopathic interstitial pneumonia','Clinical group','no definition available'),('98301','Laminopathy','Category','no definition available'),('98305','Genetic lipodystrophy','Category','no definition available'),('98306','Familial partial lipodystrophy','Clinical group','A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.'),('98307','Acquired lipodystrophy','Category','no definition available'),('98309','OBSOLETE: Male infertility with impaired virilization','Clinical group','no definition available'),('98310','OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder','Clinical group','no definition available'),('98311','OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia','Clinical group','no definition available'),('98312','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder','Clinical group','no definition available'),('98313','Male infertility due to gonadal dysgenesis','Category','no definition available'),('98314','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect','Clinical group','no definition available'),('98315','OBSOLETE: Male infertility with impaired virilization due to a viral orchitis','Clinical group','no definition available'),('98316','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma','Clinical group','no definition available'),('98317','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related','Clinical group','no definition available'),('98318','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin','Clinical group','no definition available'),('98319','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity','Clinical group','no definition available'),('98320','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease','Clinical group','no definition available'),('98321','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease','Clinical group','no definition available'),('98322','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure','Clinical group','no definition available'),('98323','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease','Clinical group','no definition available'),('98324','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness','Clinical group','no definition available'),('98325','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis','Clinical group','no definition available'),('98326','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder','Clinical group','no definition available'),('98327','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease','Clinical group','no definition available'),('98328','OBSOLETE: Male infertility with normal virilization','Clinical group','no definition available'),('98329','OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect','Clinical group','no definition available'),('98330','OBSOLETE: Male infertility with normal virilization due to androgen administration','Clinical group','no definition available'),('98331','OBSOLETE: Male infertility with normal virilization due to a testicular defect','Clinical group','no definition available'),('98332','OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect','Clinical group','no definition available'),('98333','OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism','Clinical group','no definition available'),('98334','OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele','Clinical group','no definition available'),('98335','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect','Clinical group','no definition available'),('98336','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection','Clinical group','no definition available'),('98337','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation','Clinical group','no definition available'),('98338','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug','Clinical group','no definition available'),('98339','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin','Clinical group','no definition available'),('98340','OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity','Clinical group','no definition available'),('98341','OBSOLETE: Male infertility with normal virilization due to a systemic disease','Clinical group','no definition available'),('98342','OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury','Clinical group','no definition available'),('98343','Male infertility due to obstructive azoospermia','Category','no definition available'),('98345','Rare idiopathic male infertility','Disease','no definition available'),('98349','Autosomal dominant isolated diffuse palmoplantar keratoderma','Category','no definition available'),('98352','Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature','Category','no definition available'),('98353','Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature','Category','no definition available'),('98356','Autosomal recessive isolated diffuse palmoplantar keratoderma','Category','no definition available'),('98357','Autosomal recessive disease with focal palmoplantar keratoderma as a major feature','Category','no definition available'),('98360','Constitutional anemia due to iron metabolism disorder','Category','no definition available'),('98362','Constitutional sideroblastic anemia','Category','no definition available'),('98363','Rare hemolytic anemia','Category','no definition available'),('98364','Rare constitutional hemolytic anemia due to a red cell membrane anomaly','Category','no definition available'),('98365','Hereditary stomatocytosis','Clinical group','no definition available'),('98366','Constitutional hemolytic anemia due to acanthocytosis','Category','no definition available'),('98369','Rare constitutional hemolytic anemia due to an enzyme disorder','Category','no definition available'),('98370','Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies','Category','no definition available'),('98372','Hemolytic anemia due to a disorder of glycolytic enzymes','Category','no definition available'),('98374','Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder','Category','no definition available'),('98375','Autoimmune hemolytic anemia','Clinical group','A rare, autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.'),('98396','Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder','Category','no definition available'),('984','Pulmonary agenesis','Morphological anomaly','A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.'),('98408','Constitutional megaloblastic anemia due to folate metabolism disorder','Category','no definition available'),('98415','Vitamin B12- and folate-independent constitutional megaloblastic anemia','Category','no definition available'),('98421','Red cell aplasia','Category','no definition available'),('98427','Polycythemia','Clinical group','no definition available'),('98428','Secondary polycythemia','Category','Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).'),('98429','Rare coagulation disorder','Category','no definition available'),('98434','Hereditary combined deficiency of vitamin K-dependent clotting factors','Disease','Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.'),('98435','OBSOLETE: Protease inhibitor anomaly','Clinical group','no definition available'),('98454','OBSOLETE: Platelet storage pool disease','Category','no definition available'),('98455','Alpha granule disease','Category','no definition available'),('98456','Dense granule disease','Category','no definition available'),('98464','X-linked syndromic intellectual disability','Category','no definition available'),('98468','OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly','Category','no definition available'),('98469','OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly','Category','no definition available'),('98470','OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly','Category','no definition available'),('98472','Skeletal muscle disease','Category','no definition available'),('98473','Muscular dystrophy','Category','no definition available'),('98482','Idiopathic inflammatory myopathy','Category','no definition available'),('98486','Metabolic myopathy','Category','no definition available'),('98491','Neuromuscular junction disease','Category','no definition available'),('98494','Acquired neuromuscular junction disease','Category','no definition available'),('98495','Genetic neuromuscular junction disease','Category','no definition available'),('98496','Rare peripheral neuropathy','Category','no definition available'),('98497','Genetic peripheral neuropathy','Category','no definition available'),('98503','Motor neuron disease','Category','no definition available'),('98505','Genetic motor neuron disease','Category','no definition available'),('98506','Acquired motor neuron disease','Category','no definition available'),('98514','Malformation of the cerebellar vermis','Category','no definition available'),('98516','Malformation of the cerebellar hemispheres','Category','no definition available'),('98518','Cranial nerve and nuclear aplasia','Category','no definition available'),('98519','Posterior fossa malformation','Category','no definition available'),('98520','OBSOLETE: Cystic malformation of the posterior fossa','Category','no definition available'),('98523','Non-syndromic pontocerebellar hypoplasia','Clinical group','Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern.'),('98527','OBSOLETE: Tauopathy','Category','no definition available'),('98528','OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration','Category','no definition available'),('98529','OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa','Category','no definition available'),('98530','OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa','Category','no definition available'),('98531','OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa','Category','no definition available'),('98532','OBSOLETE: Tauopathy with a major tau at 60 kDa','Category','no definition available'),('98534','Neurodegenerative disease with dementia','Category','no definition available'),('98535','Frontotemporal degeneration with dementia','Clinical group','no definition available'),('98538','Ataxia with dementia','Category','no definition available'),('98539','Early-onset ataxia with dementia','Category','no definition available'),('98540','Late-onset ataxia with dementia','Category','no definition available'),('98542','Infectious disease with dementia','Category','no definition available'),('98543','Metabolic disease with dementia','Category','no definition available'),('98544','Cerebral lipidosis with dementia','Category','no definition available'),('98549','Rare cerebrovascular dementia','Category','no definition available'),('98553','Developmental defect of the eye','Category','no definition available'),('98554','OBSOLETE: Major induction processes eye anomaly','Category','no definition available'),('98555','Microphthalmia-anophthalmia-coloboma','Category','no definition available'),('98557','Syndromic aniridia','Category','no definition available'),('98558','OBSOLETE: Rare eye disease due to a differentiation anomaly','Category','no definition available'),('98559','OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease','Category','no definition available'),('98560','Rare palpebral disorder','Category','no definition available'),('98561','Congenital malformation of the eyelid','Category','no definition available'),('98562','Cryptophthalmia','Category','no definition available'),('98563','Microblepharon-ablephara syndrome','Clinical group','no definition available'),('98564','Eyelid border anomaly','Category','no definition available'),('98565','Syndromic ankyloblepharon filiforme adnatum','Category','no definition available'),('98566','Syndromic eyelid coloboma','Category','no definition available'),('98567','Rare eyelid malposition disorder','Category','no definition available'),('98568','OBSOLETE: Congenital entropion','Category','no definition available'),('98569','OBSOLETE: Secondary entropion','Category','no definition available'),('98570','Congenital ectropion','Category','no definition available'),('98571','Secondary ectropion','Category','no definition available'),('98572','OBSOLETE: Canthal anomaly','Category','no definition available'),('98573','OBSOLETE: Epicanthal fold','Category','no definition available'),('98574','Syndromic epicanthus','Category','no definition available'),('98575','Syndromic telecanthus','Category','no definition available'),('98576','Syndromic outer canthal malposition','Category','no definition available'),('98577','OBSOLETE: Kinetic eyelid anomaly','Category','no definition available'),('98578','Rare disorder with ptosis','Category','no definition available'),('98579','OBSOLETE: Congenital upper palpebral retraction','Category','no definition available'),('98580','OBSOLETE: Palpebral tumor','Category','no definition available'),('98581','OBSOLETE: Palpebral epidermal tumor','Category','no definition available'),('98582','OBSOLETE: Benign tumor of palpebral epidermis','Category','no definition available'),('98583','OBSOLETE: Precancerous lesion of palpebral epidermis','Category','no definition available'),('98584','OBSOLETE: Malignant tumor of palpebral epidermis','Category','no definition available'),('98585','OBSOLETE: Palpebral sebaceous gland tumor','Category','no definition available'),('98586','OBSOLETE: Pigmented palpebral tumor','Category','no definition available'),('98587','OBSOLETE: Palpebral lentiginosis','Category','no definition available'),('98588','OBSOLETE: Palpebral nevus','Category','no definition available'),('98589','OBSOLETE: Palpebral malignant melanoma','Clinical group','no definition available'),('98590','OBSOLETE: Palpebral piliary tumor','Category','no definition available'),('98591','OBSOLETE: Mesenchymatous palpebral tumor','Category','no definition available'),('98592','OBSOLETE: Palpebral tumor with a vascular malformation','Category','no definition available'),('98593','Neurogenic palpebral tumor','Disease','A rare ophthalmic disorder characterized by origin from peripheral nerves or neuroendocrine cells, and variable clinical features, depending on the type of tumor. The most common benign tumors are plexiform neurofibroma associated with von Recklinghausen disease, solitary neurofibroma, and schwannoma. Malignant tumors are less frequent and include malignant peripheral nerve sheath tumor and Merkel cell tumor.'),('98594','Rare eyebrow/eyelash disorder','Category','no definition available'),('98595','OBSOLETE: Eyebrow/eyelashes hypertrichosis','Category','no definition available'),('98596','OBSOLETE: Eyebrow hypertrophy','Category','no definition available'),('98597','OBSOLETE: Eyelashes hypertrophy','Category','no definition available'),('98598','OBSOLETE: Congenital absence of the eyebrow/eyelashes','Category','no definition available'),('98599','OBSOLETE: Eyebrow/eyelashes structural anomaly','Category','no definition available'),('98600','OBSOLETE: Eyebrow/eyelashes distichiasis','Category','no definition available'),('98601','OBSOLETE: Eyebrow/eyelashes pigmentation anomaly','Category','no definition available'),('98602','Rare disorder of the lacrimal apparatus','Category','no definition available'),('98603','OBSOLETE: Secretory apparatus of the lacrimal system anomaly','Category','no definition available'),('98604','Congenital alacrima','Category','no definition available'),('98605','Lacrimal drainage system anomaly','Category','no definition available'),('98606','Syndromic orbital border hypoplasia','Malformation syndrome','Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.'),('98608','OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system','Category','no definition available'),('98609','EEC syndrome and related disorders','Category','no definition available'),('98610','Rare disorder with conjunctival involvement as a major feature','Category','no definition available'),('98611','OBSOLETE: Conjunctival vascular anomaly','Category','no definition available'),('98612','OBSOLETE: Conjunctival hemangioma or hemolymphangioma','Category','no definition available'),('98613','OBSOLETE: Conjunctival telangiectasia','Category','no definition available'),('98614','OBSOLETE: Conjunctival lymphangiectasia','Category','no definition available'),('98615','OBSOLETE: Pigmented conjunctival lesion','Category','no definition available'),('98616','OBSOLETE: Conjunctival tumor','Category','no definition available'),('98617','OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma','Category','no definition available'),('98618','Rare refraction anomaly','Category','no definition available'),('98619','Rare isolated myopia','Disease','Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.'),('98620','OBSOLETE: Syndromic myopia','Category','no definition available'),('98621','Rare hyperopia and astigmatism','Category','no definition available'),('98622','Syndromic hyperopia','Category','no definition available'),('98623','Syndromic keratoconus','Category','no definition available'),('98625','Superficial corneal dystrophy','Category','The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.'),('98626','Stromal corneal dystrophy','Category','The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.'),('98627','Posterior corneal dystrophy','Category','Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.'),('98628','Syndromic corneal dystrophy','Category','no definition available'),('98629','OBSOLETE: Rare glaucoma','Clinical group','no definition available'),('98631','Congenital malformation of the eye with glaucoma as a major feature','Category','no definition available'),('98632','OBSOLETE: Glaucoma associated with neural crest cell migration anomaly','Category','no definition available'),('98633','OBSOLETE: Goniodysgenesis','Category','no definition available'),('98634','Anterior segment developmental anomaly without extraocular manifestations','Category','no definition available'),('98635','Corneodysgenesis','Category','no definition available'),('98636','OBSOLETE: Corneoiridogoniodysgenesis','Category','no definition available'),('98637','OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly','Category','no definition available'),('98638','Rare disease with glaucoma as a major feature','Category','no definition available'),('98639','Rare lens disease','Category','no definition available'),('98640','Rare disorder with lens opacification','Category','no definition available'),('98641','Syndromic cataract','Category','no definition available'),('98642','Chromosomal anomaly with cataract','Category','no definition available'),('98643','OBSOLETE: Systemic disease with cataract','Category','no definition available'),('98644','Metabolic disease with cataract','Category','no definition available'),('98645','OBSOLETE: Cerebral disease with cataract','Category','no definition available'),('98646','Renal disease with cataract','Category','no definition available'),('98647','OBSOLETE: Cardiac disease with cataract','Category','no definition available'),('98648','Musculoskeletal disease with cataract','Category','no definition available'),('98649','Dentocutaneous disease with cataract','Category','no definition available'),('98650','Craniofacial anomaly with cataract','Category','no definition available'),('98652','Lens size anomaly','Category','no definition available'),('98653','Lens position anomaly','Category','no definition available'),('98655','Lens shape anomaly','Category','no definition available'),('98657','OBSOLETE: Genetic vitreous-retinal disease','Category','no definition available'),('98658','Color-vision disease','Category','no definition available'),('98661','Syndromic rod-cone dystrophy','Category','no definition available'),('98662','OBSOLETE: Unclassified familial retinal dystrophy','Category','no definition available'),('98664','OBSOLETE: Genetic macular dystrophy','Category','no definition available'),('98665','OBSOLETE: Colobomatous and areolar dystrophy','Category','no definition available'),('98666','OBSOLETE: Unclassified primitive or secondary maculopathy','Category','no definition available'),('98667','OBSOLETE: Disease predisposing to age-related macular degeneration','Category','no definition available'),('98668','Vitreoretinopathy','Category','no definition available'),('98669','OBSOLETE: Congenital vitreoretinal dysplasia','Category','no definition available'),('98670','OBSOLETE: Vitreoretinal degeneration','Category','no definition available'),('98671','Hereditary optic neuropathy','Category','no definition available'),('98672','Autosomal dominant optic atrophy','Clinical group','no definition available'),('98673','Autosomal dominant optic atrophy, classic form','Disease','One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.'),('98675','OBSOLETE: Autosomal recessive optic atrophy','Clinical group','no definition available'),('98676','Autosomal recessive isolated optic atrophy','Disease','A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.'),('98677','OBSOLETE: Autosomal recessive syndromic optic atrophy','Clinical group','no definition available'),('98678','OBSOLETE: X-linked recessive optic atrophy','Clinical group','no definition available'),('98681','Rare disorder with strabismus','Category','no definition available'),('98682','NON RARE IN EUROPE: Essential strabismus','Disease','no definition available'),('98683','Syndromic disorder with strabismus','Category','no definition available'),('98684','Craniostenosis with strabismus','Category','no definition available'),('98685','Rare oculomotor nerve disorder','Category','no definition available'),('98686','Congenital trochlear nerve palsy','Disease','A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.'),('98687','Supranuclear eye movement disorder','Category','no definition available'),('98688','Oculomotor apraxia','Category','no definition available'),('98689','OBSOLETE: Myopathy with eye involvement','Category','no definition available'),('98690','OBSOLETE: Myasthenic syndrome with eye involvement','Category','no definition available'),('98691','OBSOLETE: Abnormal eye movements','Category','no definition available'),('98692','OBSOLETE: Nervous system anomaly with eye involvement','Category','no definition available'),('98693','OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly','Category','no definition available'),('98694','OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly','Category','no definition available'),('98695','OBSOLETE: Mitochondrial disease with eye involvement','Category','no definition available'),('98696','OBSOLETE: Genodermatosis with ocular features','Category','no definition available'),('98697','OBSOLETE: Genetic keratinization disorder associated with ocular features','Category','no definition available'),('98698','OBSOLETE: Ichthyosis associated with ocular features','Category','no definition available'),('98699','OBSOLETE: Syndromic ichthyosis associated with ocular features','Category','no definition available'),('98700','OBSOLETE: Pigmentation disorder with eye involvement','Category','no definition available'),('98701','OBSOLETE: Phakomatosis with eye involvement','Category','no definition available'),('98702','OBSOLETE: Connective tissue disease with eye involvement','Category','no definition available'),('98703','OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features','Category','no definition available'),('98704','OBSOLETE: Onycho-patellar syndrome with eye involvement','Category','no definition available'),('98706','Oculocutaneous or ocular albinism','Category','no definition available'),('98708','OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism','Category','no definition available'),('98709','OBSOLETE: Ectodermal malformation syndrome associated with ocular features','Category','no definition available'),('98710','OBSOLETE: Metabolic disease associated with ocular features','Category','no definition available'),('98711','OBSOLETE: Metabolic disease with corneal opacity','Category','no definition available'),('98712','OBSOLETE: Metabolic disease with cataract','Category','no definition available'),('98713','OBSOLETE: Metabolic disease with pigmentary retinitis','Category','no definition available'),('98714','OBSOLETE: Metabolic disease with macular cherry-red spot','Category','no definition available'),('98715','Uveitis','Category','no definition available'),('98716','Heart position anomaly','Category','no definition available'),('98717','Transposition of the great arteries and conotruncal cardiac anomaly','Category','no definition available'),('98718','Aortic malformation','Category','no definition available'),('98719','Pulmonary artery or pulmonary branch anomaly','Category','no definition available'),('98720','Atrioventricular valve anomaly','Category','no definition available'),('98721','Congenital tricuspid malformation','Category','no definition available'),('98722','Atrioventricular septal defect','Clinical group','no definition available'),('98723','Hypoplastic right heart syndrome','Clinical group','Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation (see this term) caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia (see these terms).'),('98724','Congenital anomaly of the great arteries','Category','no definition available'),('98725','Ascending aorta anomaly','Category','no definition available'),('98726','OBSOLETE: Pulmonary artery/pulmonary branch anomaly','Clinical group','no definition available'),('98727','Rare atrial defect and interatrial communication','Category','no definition available'),('98729','Congenital pulmonary veins anomaly','Category','no definition available'),('98730','OBSOLETE: Atrioventricular discordance','Clinical group','no definition available'),('98731','Congenital arteriovenous fistula','Category','A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.'),('98732','OBSOLETE: Syndrome associated with a congenital cardiopathy','Clinical group','no definition available'),('98733','Noonan syndrome and Noonan-related syndrome','Category','no definition available'),('98734','OBSOLETE: Cardioskeletal syndrome','Clinical group','no definition available'),('98736','OBSOLETE: Genetic neurological channelopathy','Category','no definition available'),('98737','Genetic neurological muscular channelopathy','Category','no definition available'),('98738','Neurological muscular channelopathy due to a genetic sodium channel defect','Category','no definition available'),('98739','Neurological muscular channelopathy due to a genetic chloride channel defect','Category','no definition available'),('98740','Neurological muscular channelopathy due to a genetic calcium channel defect','Category','no definition available'),('98741','Neurological muscular channelopathy due to a genetic potassium channel defect','Category','no definition available'),('98742','Neurological muscular channelopathy due to a genetic ryanodine receptor defect','Category','no definition available'),('98743','Genetic neurological channelopathy of the central nervous system','Category','no definition available'),('98744','Neurological channelopathy of the central nervous system due to a genetic sodium channel defect','Category','no definition available'),('98745','Neurological channelopathy of the central nervous system due to a genetic calcium channel defect','Category','no definition available'),('98746','Neurological channelopathy of the central nervous system due to a genetic potassium channel defect','Category','no definition available'),('98747','Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect','Category','no definition available'),('98748','Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect','Category','no definition available'),('98749','Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect','Category','no definition available'),('98750','Autoimmune neurological channelopathy','Category','no definition available'),('98751','OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect','Category','no definition available'),('98752','OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect','Category','no definition available'),('98753','OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect','Category','no definition available'),('98754','Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15','Etiological subtype','no definition available'),('98755','Spinocerebellar ataxia type 1','Disease','Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.'),('98756','Spinocerebellar ataxia type 2','Disease','Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.'),('98757','Spinocerebellar ataxia type 3','Disease','Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.'),('98758','Spinocerebellar ataxia type 6','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.'),('98759','Spinocerebellar ataxia type 17','Disease','Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.'),('98760','Spinocerebellar ataxia type 8','Disease','Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.'),('98761','Spinocerebellar ataxia type 10','Disease','Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.'),('98762','Spinocerebellar ataxia type 12','Disease','Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.'),('98763','Spinocerebellar ataxia type 14','Disease','Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.'),('98764','Spinocerebellar ataxia type 27','Disease','Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.'),('98765','Spinocerebellar ataxia type 4','Disease','Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.'),('98766','Spinocerebellar ataxia type 5','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.'),('98767','Spinocerebellar ataxia type 11','Disease','A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.'),('98768','Spinocerebellar ataxia type 13','Disease','Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.'),('98769','Spinocerebellar ataxia type 15/16','Disease','Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.'),('98770','Spinocerebellar ataxia type 16','Disease','no definition available'),('98771','Spinocerebellar ataxia type 18','Disease','Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.'),('98772','Spinocerebellar ataxia type 19/22','Disease','Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.'),('98773','Spinocerebellar ataxia type 21','Disease','Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.'),('98784','Autosomal dominant nocturnal frontal lobe epilepsy','Disease','A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.'),('98788','Pitt-Rogers-Danks syndrome','Malformation syndrome','no definition available'),('98791','Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16','Disease','A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.'),('98793','Prader-Willi syndrome due to paternal 15q11q13 deletion','Etiological subtype','no definition available'),('98794','Angelman syndrome due to maternal 15q11q13 deletion','Etiological subtype','no definition available'),('98795','Angelman syndrome due to paternal uniparental disomy of chromosome 15','Etiological subtype','no definition available'),('98797','Isochromosomy Yp','Malformation syndrome','Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.'),('98798','Isochromosomy Yq','Malformation syndrome','Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.'),('988','Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome','Malformation syndrome','Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.'),('98805','Primary dystonia, DYT4 type','Disease','DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).'),('98806','Primary dystonia, DYT6 type','Disease','Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.'),('98807','Primary dystonia, DYT13 type','Disease','A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.'),('98808','Autosomal dominant dopa-responsive dystonia','Disease','A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.'),('98809','Paroxysmal kinesigenic dyskinesia','Disease','Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.'),('98810','Paroxysmal non-kinesigenic dyskinesia','Disease','Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.'),('98811','Paroxysmal exertion-induced dyskinesia','Disease','Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.'),('98812','Paroxysmal hypnogenic dyskinesia','Disease','no definition available'),('98813','Hypohidrotic ectodermal dysplasia with immunodeficiency','Clinical subtype','Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.'),('98815','Benign childhood occipital epilepsy, Panayiotopoulos type','Clinical subtype','Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.'),('98816','Benign childhood occipital epilepsy, Gastaut type','Clinical subtype','Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.'),('98818','Landau-Kleffner syndrome','Disease','Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.'),('98819','Familial temporal lobe epilepsy','Disease','A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.'),('98820','Familial focal epilepsy with variable foci','Disease','Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.'),('98823','Chronic myelomonocytic leukemia','Disease','no definition available'),('98824','Atypical chronic myeloid leukemia','Disease','no definition available'),('98825','Unclassified myelodysplastic/myeloproliferative disease','Disease','no definition available'),('98826','Refractory anemia','Disease','Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.'),('98827','Unclassified myelodysplastic syndrome','Disease','Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.'),('98829','Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)','Disease','A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.'),('98831','Acute myeloid leukemia with 11q23 abnormalities','Disease','A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.'),('98832','Acute myeloid leukemia with minimal differentiation','Disease','A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.'),('98833','Acute myeloblastic leukemia without maturation','Disease','A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.'),('98834','Acute myeloblastic leukemia with maturation','Disease','A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.'),('98835','Acute undifferentiated leukemia','Disease','A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).'),('98836','Bilineal acute leukemia','Disease','no definition available'),('98837','Acute biphenotypic leukemia','Disease','no definition available'),('98838','Primary mediastinal large B-cell lymphoma','Disease','Primary mediastinal B-cell lymphoma (PMBL) is a rare subtype of diffuse large B-cell lymphoma (DLBCL; see this term), arising from B cells of thymic origin, that affects mainly women between the ages of 20-30, that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.'),('98839','Intravascular large B-cell lymphoma','Disease','Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.'),('98841','Anaplastic large cell lymphoma','Disease','A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.'),('98842','Lymphomatoid papulosis','Disease','Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.'),('98843','Classic Hodgkin lymphoma, nodular sclerosis type','Histopathological subtype','no definition available'),('98844','Classic Hodgkin lymphoma, mixed cellularity type','Histopathological subtype','no definition available'),('98845','Classic Hodgkin lymphoma, lymphocyte-rich type','Histopathological subtype','no definition available'),('98846','Classic Hodgkin lymphoma, lymphocyte-depleted type','Histopathological subtype','no definition available'),('98848','Indolent systemic mastocytosis','Disease','A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.'),('98849','Systemic mastocytosis with associated hematologic neoplasm','Disease','An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.'),('98850','Aggressive systemic mastocytosis','Disease','A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.'),('98851','Mast cell leukemia','Disease','A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).'),('98852','Desquamative interstitial pneumonia','Disease','no definition available'),('98853','Autosomal dominant Emery-Dreifuss muscular dystrophy','Etiological subtype','no definition available'),('98855','Autosomal recessive Emery-Dreifuss muscular dystrophy','Etiological subtype','no definition available'),('98856','Charcot-Marie-Tooth disease type 2B1','Disease','Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.'),('98861','Primary ciliary dyskinesia, Kartagener type','Clinical subtype','no definition available'),('98863','X-linked Emery-Dreifuss muscular dystrophy','Etiological subtype','no definition available'),('98864','Common hereditary elliptocytosis','Disease','no definition available'),('98865','Homozygous hereditary elliptocytosis','Disease','no definition available'),('98866','OBSOLETE: Spherocytic elliptocytosis','Disease','no definition available'),('98867','Hereditary pyropoikilocytosis','Disease','no definition available'),('98868','Southeast Asian ovalocytosis','Disease','Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.'),('98869','Congenital dyserythropoietic anemia type I','Disease','Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.'),('98870','Congenital dyserythropoietic anemia type III','Disease','Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.'),('98871','Transient erythroblastopenia of childhood','Disease','A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.'),('98872','Adult pure red cell aplasia','Disease','A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.'),('98873','Congenital dyserythropoietic anemia type II','Disease','Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.'),('98878','Hemophilia A','Disease','Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.'),('98879','Hemophilia B','Disease','Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.'),('98880','Familial afibrinogenemia','Clinical subtype','Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.'),('98881','Familial dysfibrinogenemia','Clinical subtype','Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.'),('98885','Bleeding diathesis due to glycoprotein VI deficiency','Etiological subtype','no definition available'),('98886','Bleeding diathesis due to integrin alpha2-beta1 deficiency','Etiological subtype','no definition available'),('98888','X-linked complex spastic paraplegia','Clinical group','no definition available'),('98889','Bilateral perisylvian polymicrogyria','Clinical subtype','no definition available'),('98890','Early-onset X-linked optic atrophy','Disease','Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.'),('98892','Periventricular nodular heterotopia','Clinical subtype','Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.'),('98893','Congenital muscular dystrophy type 1B','Disease','Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.'),('98894','Congenital muscular dystrophy type 1D','Disease','no definition available'),('98895','Becker muscular dystrophy','Disease','A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.'),('98896','Duchenne muscular dystrophy','Disease','A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.'),('98897','Oculopharyngodistal myopathy','Disease','A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.'),('989','Hypoglossia-hypodactyly syndrome','Malformation syndrome','A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.'),('98902','Amish nemaline myopathy','Disease','A type of nemaline myopathy (NM) only observed in several families of the Amish community.'),('98904','Congenital myopathy with excess of thin filaments','Disease','A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.'),('98905','Congenital multicore myopathy with external ophthalmoplegia','Clinical subtype','no definition available'),('98907','Neutral lipid storage disease with ichthyosis','Disease','no definition available'),('98908','Neutral lipid storage myopathy','Disease','A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans` anomaly), as well as massive accumulation of lipid droplets in muscle tissue.'),('98909','Desminopathy','Disease','A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.'),('98910','Alpha-crystallinopathy','Clinical group','no definition available'),('98911','Distal myotilinopathy','Disease','A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.'),('98912','Late-onset distal myopathy, Markesbery-Griggs type','Disease','A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.'),('98913','Postsynaptic congenital myasthenic syndromes','Etiological subtype','no definition available'),('98914','Presynaptic congenital myasthenic syndromes','Etiological subtype','no definition available'),('98915','Synaptic congenital myasthenic syndromes','Etiological subtype','no definition available'),('98916','Acute inflammatory demyelinating polyradiculoneuropathy','Disease','A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).'),('98917','Acute motor and sensory axonal neuropathy','Disease','A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).'),('98918','Acute motor axonal neuropathy','Disease','A rare pure motor axonal form of Guillain-Barré syndrome (GBS).'),('98919','Miller Fisher syndrome','Disease','Miller-Fisher syndrome (MFS) is a rare cranial nerve variant of Guillain-Barré syndrome (GBS; see this term).'),('98920','Spinal muscular atrophy with respiratory distress type 1','Disease','Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.'),('98922','Blake pouch cyst','Morphological anomaly','Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.'),('98932','OBSOLETE: Shy-Drager syndrome','Clinical subtype','no definition available'),('98933','Multiple system atrophy, parkinsonian type','Clinical subtype','Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).'),('98934','Huntington disease-like 2','Disease','Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.'),('98938','Colobomatous microphthalmia','Malformation syndrome','Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.'),('98941','OBSOLETE: Von Hippel anomaly','Malformation syndrome','no definition available'),('98942','Coloboma of choroid and retina','Morphological anomaly','Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.'),('98943','Coloboma of eye lens','Morphological anomaly','A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.'),('98944','Coloboma of iris','Morphological anomaly','A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. `keyhole` or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.'),('98945','Coloboma of macula','Morphological anomaly','Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.'),('98946','Coloboma of eyelid','Morphological anomaly','A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.'),('98947','Coloboma of optic disc','Morphological anomaly','Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).'),('98948','Congenital symblepharon','Clinical subtype','no definition available'),('98949','Complete cryptophthalmia','Clinical subtype','no definition available'),('98950','Partial cryptophthalmia','Clinical subtype','no definition available'),('98951','Inverse Marcus-Gunn phenomenon','Clinical subtype','Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.'),('98954','Meesmann corneal dystrophy','Disease','Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.'),('98955','Lisch epithelial corneal dystrophy','Disease','Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.'),('98956','Epithelial basement membrane dystrophy','Disease','no definition available'),('98957','Gelatinous drop-like corneal dystrophy','Disease','Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.'),('98958','Climatic droplet keratopathy','Disease','A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss.'),('98959','Subepithelial mucinous corneal dystrophy','Disease','Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.'),('98960','Thiel-Behnke corneal dystrophy','Disease','Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.'),('98961','Reis-Bücklers corneal dystrophy','Disease','Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.'),('98962','Granular corneal dystrophy type I','Disease','Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.'),('98963','Granular corneal dystrophy type II','Disease','Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.'),('98964','Lattice corneal dystrophy type I','Disease','Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.'),('98967','Schnyder corneal dystrophy','Disease','Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.'),('98968','Central discoid corneal dystrophy','Disease','no definition available'),('98969','Macular corneal dystrophy','Disease','Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.'),('98970','Fleck corneal dystrophy','Disease','Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.'),('98971','Posterior amorphous corneal dystrophy','Disease','Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.'),('98972','Central cloudy dystrophy of François','Disease','Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.'),('98973','Posterior polymorphous corneal dystrophy','Disease','A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.'),('98974','Fuchs endothelial corneal dystrophy','Disease','A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.'),('98975','Congenital hereditary endothelial dystrophy type I','Disease','A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.'),('98976','Congenital glaucoma','Disease','A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.'),('98977','Juvenile glaucoma','Disease','A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.'),('98978','Axenfeld anomaly','Morphological anomaly','A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe`s line and iris bands extending into the cornea. In contrast, Rieger`s anomaly includes characteristic iris and pupil anomalies.'),('98979','Chandler syndrome','Clinical subtype','A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.'),('98980','Cogan-Reese syndrome','Clinical subtype','A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.'),('98981','Essential iris atrophy','Clinical subtype','A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.'),('98983','OBSOLETE: Congenital cataract, Volkmann type','Clinical subtype','no definition available'),('98984','Pulverulent cataract','Clinical subtype','no definition available'),('98985','Early-onset sutural cataract','Clinical subtype','no definition available'),('98986','OBSOLETE: Coppock-like cataract','Clinical subtype','no definition available'),('98987','OBSOLETE: Cataract, Hutterite type','Clinical subtype','no definition available'),('98988','Early-onset anterior polar cataract','Clinical subtype','no definition available'),('98989','Cerulean cataract','Clinical subtype','A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.'),('98990','Coralliform cataract','Clinical subtype','no definition available'),('98991','Early-onset nuclear cataract','Clinical subtype','no definition available'),('98992','Early-onset partial cataract','Clinical subtype','no definition available'),('98993','Early-onset posterior polar cataract','Clinical subtype','no definition available'),('98994','Total early-onset cataract','Clinical subtype','no definition available'),('98995','Early-onset zonular cataract','Clinical subtype','no definition available'),('99','Autosomal dominant cerebellar ataxia','Category','A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.'),('990','Agnathia-holoprosencephaly-situs inversus syndrome','Malformation syndrome','An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.'),('99000','Adult-onset foveomacular vitelliform dystrophy','Disease','A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.'),('99001','Butterfly-shaped pigment dystrophy','Disease','A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.'),('99002','Reticular dystrophy of the retinal pigment epithelium','Disease','A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.'),('99003','Multifocal pattern dystrophy simulating fundus flavimaculatus','Disease','A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.'),('99004','Fundus pulverulentus','Disease','Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.'),('99012','OBSOLETE: Autosomal recessive optic atrophy, OPA6 type','Clinical subtype','no definition available'),('99013','Spastic paraplegia type 7','Disease','A form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.'),('99014','X-linked Charcot-Marie-Tooth disease type 5','Disease','X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.'),('99015','Spastic paraplegia type 2','Disease','A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.'),('99022','OBSOLETE: Niemann-Pick disease type E','Disease','no definition available'),('99027','Adult-onset autosomal dominant leukodystrophy','Disease','A rare, slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.'),('99042','Congenitally uncorrected transposition of the great arteries with coarctation','Clinical subtype','no definition available'),('99043','Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis','Clinical subtype','no definition available'),('99044','Double outlet right ventricle with subaortic ventricular septal defect','Clinical subtype','no definition available'),('99045','Double outlet right ventricle with subpulmonary ventricular septal defect','Clinical subtype','no definition available'),('99046','Double outlet right ventricle with non-committed subpulmonary ventricular septal defect','Clinical subtype','no definition available'),('99047','Double outlet right ventricle with doubly committed ventricular septal defect','Clinical subtype','no definition available'),('99048','Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome','Malformation syndrome','A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.'),('99049','Pulmonary artery coming from patent ductus arteriosus','Morphological anomaly','Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.'),('99050','Abnormal origin of right or left pulmonary artery from the aorta','Morphological anomaly','A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.'),('99051','Discrete fixed membranous subaortic stenosis','Clinical subtype','no definition available'),('99052','Discrete fibromuscular subaortic stenosis','Clinical subtype','no definition available'),('99053','Tunnel subaortic stenosis','Clinical subtype','no definition available'),('99054','Valvular pulmonary stenosis','Clinical subtype','no definition available'),('99055','Congenital anomaly of the tricuspid valve chordae','Morphological anomaly','A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.'),('99056','Parachute tricuspid valve','Morphological anomaly','Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic `pear` shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.'),('99057','Congenital mitral stenosis','Morphological anomaly','Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.'),('99058','Hypoplasia of the mitral valve annulus','Morphological anomaly','A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.'),('99059','Congenital supravalvular mitral ring','Morphological anomaly','Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.'),('99060','Congenital unguarded mitral orifice','Morphological anomaly','Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.'),('99061','Accessory mitral valve tissue','Morphological anomaly','A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.'),('99062','Mitral valve agenesis','Morphological anomaly','Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.'),('99063','Shone complex','Malformation syndrome','Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.'),('99064','Straddling and/or overriding mitral valve','Clinical subtype','A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.'),('99066','OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome','Clinical subtype','no definition available'),('99067','Complete atrioventricular septal defect with ventricular hypoplasia','Clinical subtype','no definition available'),('99068','Complete atrioventricular septal defect-tetralogy of Fallot','Clinical subtype','no definition available'),('99069','Univentricular heart with single atrio-ventricular valve','Clinical subtype','An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.'),('99070','Aorto-right ventricular tunnel','Clinical subtype','no definition available'),('99071','Aorto-left ventricular tunnel','Clinical subtype','no definition available'),('99072','Congenital patent ductus arteriosus aneurysm','Morphological anomaly','A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.'),('99075','Encircling double aortic arch','Morphological anomaly','Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.'),('99076','Persistent fifth aortic arch','Morphological anomaly','A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.'),('99077','Kommerell diverticulum','Morphological anomaly','Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.'),('99078','Neuhauser anomaly','Morphological anomaly','Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).'),('99079','Cervical aortic arch','Morphological anomaly','A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.'),('99081','Right aortic arch','Morphological anomaly','no definition available'),('99082','Dysphagia lusoria','Morphological anomaly','no definition available'),('99083','Pulmonary artery hypoplasia','Morphological anomaly','A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.'),('99084','Peripheral pulmonary stenosis','Morphological anomaly','Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.'),('99085','OBSOLETE: Coronary artery intramyocardial course','Morphological anomaly','no definition available'),('99086','OBSOLETE: Aortopulmonary coronary arterial course','Morphological anomaly','no definition available'),('99087','Coronary ostial stenosis or atresia','Morphological anomaly','Congenital stenosis or atresia of the coronary ostium is a rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.'),('99088','OBSOLETE: Intramural coronary arterial course','Morphological anomaly','no definition available'),('99089','Abnormal number of coronary ostia','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.'),('99090','Malposition of a coronary ostium','Morphological anomaly','Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.'),('99092','Interventricular septum aneurysm','Morphological anomaly','Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.'),('99094','Laubry-Pezzi syndrome','Morphological anomaly','Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.'),('99095','Congenital Gerbode defect','Morphological anomaly','A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated.'),('99096','OBSOLETE: Multiple ventricular septal defects','Morphological anomaly','no definition available'),('99097','OBSOLETE: Single ventricular septal defect','Morphological anomaly','no definition available'),('99098','Cor triatriatum dexter','Morphological anomaly','A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend on the degree of right atrial septation and the size of sinoatrial orifice and vary from asymptomatic to symptoms of tricuspid valve stenosis, atrial fibrillation, cyanosis, syncope, elevated central venous pressure and right heart failure. The anomaly may be isolated or associated with other congenital heart anomalies.'),('99099','Cor triatriatum sinister','Morphological anomaly','A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins, the lower chamber is attached to the left atrial appendage blocking the mitral valve orifice and leading to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies.'),('991','PAGOD syndrome','Malformation syndrome','PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.'),('99100','Juxtaposition of the atrial appendages','Morphological anomaly','Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.'),('99101','Ectasia of the right atrial appendage','Morphological anomaly','Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.'),('99102','Ectasia of the left atrial appendage','Morphological anomaly','Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.'),('99103','Atrial septal defect, ostium secundum type','Clinical subtype','no definition available'),('99104','Atrial septal defect, coronary sinus type','Clinical subtype','no definition available'),('99105','Atrial septal defect, sinus venosus type','Clinical subtype','no definition available'),('99106','Atrial septal defect, ostium primum type','Clinical subtype','no definition available'),('99107','Atrial septal aneurysm','Morphological anomaly','no definition available'),('99108','NON RARE IN EUROPE: Patent foramen ovale','Morphological anomaly','no definition available'),('99109','Persistent left superior vena cava connecting through coronary sinus to left-sided atrium','Morphological anomaly','Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.'),('99110','Right superior vena cava connecting to left-sided atrium','Morphological anomaly','Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.'),('99111','Persistent left superior vena cava connecting to the roof of left-sided atrium','Morphological anomaly','no definition available'),('99112','Absence of innominate vein','Morphological anomaly','A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.'),('99113','Subaortic course of innominate vein','Morphological anomaly','Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.'),('99114','Agenesis of the superior vena cava','Morphological anomaly','A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.'),('99117','Coronary sinus stenosis','Morphological anomaly','no definition available'),('99118','Coronary sinus atresia','Morphological anomaly','no definition available'),('99119','Right inferior vena cava connecting to left-sided atrium','Morphological anomaly','no definition available'),('99120','Persistent eustachian valve','Morphological anomaly','Persistent eustachian valve is a rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.'),('99121','Azygos continuation of the inferior vena cava','Morphological anomaly','no definition available'),('99122','Congenital stenosis of the inferior vena cava','Morphological anomaly','no definition available'),('99123','Inferior vena cava interruption without azygos continuation','Morphological anomaly','no definition available'),('99124','Congenital partial pulmonary venous return anomaly','Morphological anomaly','Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return (see this term) where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.'),('99125','Congenital total pulmonary venous return anomaly','Morphological anomaly','Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return (see this term)where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.'),('99126','OBSOLETE: Pulmonary vein atresia','Morphological anomaly','no definition available'),('99129','Congenital complete agenesis of pericardium','Morphological anomaly','Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.'),('99130','Congenital partial agenesis of pericardium','Morphological anomaly','Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.'),('99131','Pleuro-pericardial cyst','Morphological anomaly','Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.'),('99134','OBSOLETE: Intermediate stomatocytosis syndrome','Disease','no definition available'),('99135','6-phosphogluconate dehydrogenase deficiency','Disease','A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.'),('99138','Hemolytic anemia due to erythrocyte adenosine deaminase overproduction','Disease','Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.'),('99139','Unstable hemoglobin disease','Disease','A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia.'),('99141','Lymphedema-posterior choanal atresia syndrome','Malformation syndrome','no definition available'),('99143','OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome','Disease','no definition available'),('99146','OBSOLETE: Platelet function disease associated with renal insufficiency','Disease','no definition available'),('99147','Acquired von Willebrand syndrome','Disease','A rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.'),('99151','NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging','Disease','no definition available'),('99169','Epiblepharon','Morphological anomaly','no definition available'),('99170','Tarsal kink syndrome','Morphological anomaly','Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.'),('99171','Isolated congenital ectropion','Morphological anomaly','Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.'),('99172','Euryblepharon','Morphological anomaly','Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.'),('99176','Congenital eyelid retraction','Morphological anomaly','Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.'),('99177','Isolated distichiasis','Morphological anomaly','Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.'),('99179','Kandori fleck retina','Malformation syndrome','Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.'),('99226','Monosomy X','Etiological subtype','no definition available'),('99228','Mosaic monosomy X','Etiological subtype','no definition available'),('99324','Paternal uniparental disomy of chromosome 13','Malformation syndrome','Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('99329','48,XYYY syndrome','Malformation syndrome','A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.'),('99330','49,XYYYY syndrome','Malformation syndrome','49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set `lop` ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.'),('99361','Familial medullary thyroid carcinoma','Clinical subtype','no definition available'),('994','Fetal akinesia deformation sequence','Malformation syndrome','The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.'),('99408','Pituitary adenoma','Clinical group','no definition available'),('99413','Turner syndrome due to structural X chromosome anomalies','Etiological subtype','no definition available'),('99429','Complete androgen insensitivity syndrome','Disease','Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.'),('995','X-linked fetal akinesia syndrome','Malformation syndrome','no definition available'),('99642','Spondyloepimetaphyseal dysplasia, Handigodu type','Disease','Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.'),('99645','Dappled diaphyseal dysplasia','Disease','no definition available'),('99646','Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria','Disease','Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.'),('99647','Cheirospondyloenchondromatosis','Disease','Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.'),('99648','OBSOLETE: Non-progressive congenital heart block','Disease','no definition available'),('99649','OBSOLETE: Generalized epilepsy and praxis-induced seizures','Disease','no definition available'),('99650','OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy','Clinical group','no definition available'),('99651','OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder','Clinical group','no definition available'),('99654','OBSOLETE: Fibrocalculous pancreatopathy','Disease','no definition available'),('99657','Primary dystonia, DYT2 type','Disease','Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.'),('99662','OBSOLETE: Posterior fossa tumors','Disease','no definition available'),('99663','OBSOLETE: Vestibular torticollis','Disease','no definition available'),('99664','OBSOLETE: Trochlear nerve palsy','Disease','no definition available'),('99665','NON RARE IN EUROPE: Ventral hernia','Disease','no definition available'),('99666','OBSOLETE: Atlantoaxial subluxation','Disease','no definition available'),('99672','Fried`s tooth and nail syndrome','Malformation syndrome','A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.'),('99688','Dermotrichic syndrome','Malformation syndrome','Dermotrichic syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.'),('99694','Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome','Malformation syndrome','no definition available'),('99701','Mesial temporal lobe epilepsy with hippocampal sclerosis','Disease','Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.'),('99706','OBSOLETE: Progeria-associated arthropathy','Disease','no definition available'),('99710','Punctate acrokeratoderma freckle-like pigmentation','Disease','no definition available'),('99715','MASS syndrome','Clinical subtype','no definition available'),('99718','Leber plus disease','Disease','Leber `plus` disease describes patients with the clinical features of Leber`s hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.'),('99722','OBSOLETE: Sporadic achalasia','Clinical subtype','no definition available'),('99723','OBSOLETE: Familial esophageal achalasia','Clinical subtype','no definition available'),('99725','Pituitary gigantism','Disease','A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.'),('99731','Isolated sulfite oxidase deficiency','Clinical subtype','no definition available'),('99732','Sulfite oxidase deficiency due to molybdenum cofactor deficiency','Clinical subtype','no definition available'),('99734','Myotonia fluctuans','Disease','Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.'),('99735','Myotonia permanens','Disease','Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).'),('99736','Acetazolamide-responsive myotonia','Disease','A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).'),('99739','Rare familial disorder with hypertrophic cardiomyopathy','Category','no definition available'),('99741','King-Denborough syndrome','Malformation syndrome','King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.'),('99742','Amish lethal microcephaly','Malformation syndrome','A very rare syndrome characterized by extreme microcephaly and early death, within the first year.'),('99745','Typhoid','Disease','Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.'),('99748','Pontiac fever','Clinical subtype','Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.'),('99749','Kostmann syndrome','Disease','Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.'),('99750','Atypical progressive supranuclear palsy syndrome','Clinical subtype','A group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).'),('99756','Alveolar rhabdomyosarcoma','Clinical subtype','no definition available'),('99757','Embryonal rhabdomyosarcoma','Clinical subtype','no definition available'),('99763','OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1','Etiological subtype','no definition available'),('99764','OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2','Etiological subtype','no definition available'),('99771','Bifid uvula','Morphological anomaly','Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.'),('99772','Cleft velum','Morphological anomaly','Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.'),('99776','Mosaic trisomy 9','Malformation syndrome','Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.'),('99777','Achalasia-alacrimia syndrome','Disease','no definition available'),('99781','OBSOLETE: Familial articular chondrocalcinosis type 1','Clinical subtype','no definition available'),('99782','OBSOLETE: Familial articular chondrocalcinosis type 2','Clinical subtype','no definition available'),('99789','Dentin dysplasia type I','Clinical subtype','Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.'),('99791','Dentin dysplasia type II','Clinical subtype','Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.'),('99792','Dentin dysplasia-sclerotic bones syndrome','Disease','Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.'),('99796','Subcortical band heterotopia','Morphological anomaly','A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.'),('99797','Anodontia','Morphological anomaly','An extreme developmental dental anomaly characterized by the complete absence of all teeth.'),('99798','Oligodontia','Morphological anomaly','Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.'),('998','Albinism-deafness syndrome','Malformation syndrome','A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.'),('99802','Hemimegalencephaly','Malformation syndrome','Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.'),('99803','Haddad syndrome','Malformation syndrome','Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).'),('99806','Oculootodental syndrome','Malformation syndrome','A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.'),('99807','PEHO-like syndrome','Disease','PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.'),('99810','Familial porencephaly','Etiological subtype','no definition available'),('99811','Neuronal intestinal pseudoobstruction','Etiological subtype','Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.'),('99812','LIG4 syndrome','Disease','LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).'),('99817','Non-polyposis Turcot syndrome','Clinical subtype','no definition available'),('99818','Turcot syndrome with polyposis','Clinical subtype','Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.'),('99819','Familial gestational hyperthyroidism','Disease','no definition available'),('99824','Lassa fever','Disease','Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.'),('99825','Nipah virus disease','Disease','Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.'),('99826','Marburg hemorrhagic fever','Disease','Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.'),('99827','Crimean-Congo hemorrhagic fever','Disease','Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.'),('99828','Dengue fever','Disease','Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).'),('99829','Yellow fever','Disease','Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.'),('99831','OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect','Etiological subtype','no definition available'),('99832','Resistance to thyrotropin-releasing hormone syndrome','Disease','Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.'),('99842','Leukocyte adhesion deficiency type I','Clinical subtype','Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.'),('99843','Leukocyte adhesion deficiency type II','Clinical subtype','Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.'),('99844','Leukocyte adhesion deficiency type III','Clinical subtype','Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.'),('99845','Genetic recurrent myoglobinuria','Disease','Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.'),('99846','Autosomal dominant myoglobinuria','Disease','A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.'),('99849','Glycogen storage disease due to muscle beta-enolase deficiency','Disease','Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.'),('99852','Ravine syndrome','Disease','Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.'),('99853','Ovarioleukodystrophy','Clinical subtype','no definition available'),('99854','Cree leukoencephalopathy','Clinical subtype','no definition available'),('99856','Primary syringomyelia','Morphological anomaly','A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.'),('99857','Secondary syringomyelia','Disease','Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.'),('99858','Idiopathic syringomyelia','Clinical subtype','Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.'),('99859','OBSOLETE: Posttraumatic syringomyelia','Clinical subtype','no definition available'),('99860','Precursor B-cell acute lymphoblastic leukemia','Disease','no definition available'),('99861','Precursor T-cell acute lymphoblastic leukemia','Disease','no definition available'),('99864','OBSOLETE: Classic seminoma','Clinical subtype','no definition available'),('99865','Spermatocytic seminoma','Disease','Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.'),('99866','OBSOLETE: Metastatic spermatocytic seminoma','Clinical subtype','no definition available'),('99867','Thymoma','Disease','Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.'),('99868','Thymic carcinoma','Disease','Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.'),('99869','Thymic neuroendocrine carcinoma','Disease','Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation.'),('99870','OBSOLETE: Letterer-Siwe disease','Clinical subtype','no definition available'),('99871','OBSOLETE: Eosinophilic granuloma','Clinical subtype','no definition available'),('99872','OBSOLETE: Hashimoto-Pritzker syndrome','Clinical subtype','no definition available'),('99873','OBSOLETE: Hand-Schüller-Christian disease','Clinical subtype','no definition available'),('99874','OBSOLETE: Adult pulmonary Langerhans cell histiocytosis','Clinical subtype','no definition available'),('99875','OBSOLETE: Ehlers-Danlos syndrome type 7A','Etiological subtype','no definition available'),('99876','OBSOLETE: Ehlers-Danlos syndrome type 7B','Etiological subtype','no definition available'),('99877','Familial parathyroid adenoma','Disease','no definition available'),('99878','Primary parathyroid hyperplasia','Disease','no definition available'),('99879','Familial isolated hyperparathyroidism','Disease','A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.'),('99880','Hyperparathyroidism-jaw tumor syndrome','Disease','no definition available'),('99885','Permanent neonatal diabetes mellitus','Disease','Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.'),('99886','Transient neonatal diabetes mellitus','Disease','Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.'),('99887','Acute megakaryoblastic leukemia in Down syndrome','Clinical subtype','no definition available'),('99888','NON RARE IN EUROPE: Adrenocortical adenoma','Disease','no definition available'),('99889','Cushing syndrome due to ectopic ACTH secretion','Disease','Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.'),('99892','ACTH-dependent Cushing syndrome','Clinical group','A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).'),('99893','ACTH-independent Cushing syndrome','Clinical group','A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).'),('99898','Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('999','Ermine phenotype','Malformation syndrome','Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.'),('99900','Long chain acyl-CoA dehydrogenase deficiency','Disease','no definition available'),('99901','Acyl-CoA dehydrogenase 9 deficiency','Disease','A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.'),('99903','Spirillary rat-bite fever','Etiological subtype','Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.'),('99905','Streptobacillary rat-bite fever','Etiological subtype','Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.'),('99906','Farmer`s lung disease','Disease','Farmer`s lung disease is the main form of occupational hypersensitivity pneumonitis (see this term), caused by chronic inhalation of microorganisms, often thermophilic actinomycetes and less commonly saccharopolyspora rectivirgula, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course'),('99907','House allergic alveolitis','Disease','House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis (see this term).'),('99908','Pigeon-breeder lung disease','Disease','Pigeon-breeder`s lung disease, also called bird fancier’s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.'),('99909','Occupational allergic alveolitis','Clinical group','Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise'),('99912','Malignant dysgerminomatous germ cell tumor of the ovary','Disease','Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary (see this term), arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.'),('99913','Extragonadal non-dysgerminomatous germ cell tumor','Category','no definition available'),('99914','Gynandroblastoma','Disease','no definition available'),('99915','Maligant granulosa cell tumor of the ovary','Disease','Malignant granulosa cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis, necessitating prolonged follow-up.'),('99916','Malignant Sertoli-Leydig cell tumor of the ovary','Disease','Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.'),('99917','Theca steroid-producing cell malignant tumor of ovary, not further specified','Disease','Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary (see this term) of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome (see this term).'),('99918','Streptococcal toxic-shock syndrome','Etiological subtype','Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.'),('99919','Staphylococcal toxic-shock syndrome','Etiological subtype','Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.'),('99920','Acute graft versus host disease','Clinical subtype','no definition available'),('99921','Chronic graft versus host disease','Clinical subtype','no definition available'),('99922','Ocular cicatricial pemphigoid','Disease','Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.'),('99925','Invasive mole','Disease','An invasive mole is a gestational trophoblastic tumor (GTT; see this term) derived from a hydatidiform mole (see this term) extending into the myometrium.'),('99926','Gestational choriocarcinoma','Disease','Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT; see this term) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole (see this term).'),('99927','Hydatidiform mole','Disease','A hydatidiform mole is a benign gestational trophoblastic disease developing during pregnancy. Resulting from an abnormal fertilization characterized by trophoblastic proliferation, normal embryo development is rendered impossible. Hydatidiform moles can be either complete or partial.'),('99928','Placental site trophoblastic tumor','Disease','Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT; see this term) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.'),('99930','Secondary pulmonary hemosiderosis','Disease','Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography'),('99931','Idiopathic pulmonary hemosiderosis','Disease','Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.'),('99932','Heiner syndrome','Clinical subtype','Heiner syndrome, also called cow`s milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow`s milk from the diet.'),('99933','Pleuropulmonary blastoma type 1','Clinical subtype','no definition available'),('99934','Pleuropulmonary blastoma type 2','Clinical subtype','no definition available'),('99935','Pleuropulmonary blastoma type 3','Clinical subtype','no definition available'),('99936','Autosomal dominant Charcot-Marie-Tooth disease type 2B','Disease','A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.'),('99937','Autosomal dominant Charcot-Marie-Tooth disease type 2C','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.'),('99938','Autosomal dominant Charcot-Marie-Tooth disease type 2D','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.'),('99939','Autosomal dominant Charcot-Marie-Tooth disease type 2E','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.'),('99940','Autosomal dominant Charcot-Marie-Tooth disease type 2F','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.'),('99941','Autosomal dominant Charcot-Marie-Tooth disease type 2G','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.'),('99942','Autosomal dominant Charcot-Marie-Tooth disease type 2I','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.'),('99943','Autosomal dominant Charcot-Marie-Tooth disease type 2J','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.'),('99944','Autosomal dominant Charcot-Marie-Tooth disease type 2K','Disease','An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.'),('99945','Autosomal dominant Charcot-Marie-Tooth disease type 2L','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.'),('99946','Autosomal dominant Charcot-Marie-Tooth disease type 2A1','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.'),('99947','Autosomal dominant Charcot-Marie-Tooth disease type 2A2','Disease','A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.'),('99948','Charcot-Marie-Tooth disease type 4A','Disease','Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.'),('99949','Charcot-Marie-Tooth disease type 4C','Disease','Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.'),('99950','Charcot-Marie-Tooth disease type 4D','Disease','Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.'),('99951','Charcot-Marie-Tooth disease type 4E','Disease','Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.'),('99952','Charcot-Marie-Tooth disease type 4F','Disease','Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.'),('99953','Charcot-Marie-Tooth disease type 4G','Disease','Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.'),('99954','Charcot-Marie-Tooth disease type 4H','Disease','Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.'),('99955','Charcot-Marie-Tooth disease type 4B1','Disease','Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).'),('99956','Charcot-Marie-Tooth disease type 4B2','Disease','Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.'),('99960','Benign recurrent intrahepatic cholestasis type 1','Clinical subtype','no definition available'),('99961','Benign recurrent intrahepatic cholestasis type 2','Clinical subtype','no definition available'),('99965','O`Sullivan-McLeod syndrome','Clinical subtype','O` Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA; see this term), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.'),('99966','Atypical teratoid rhabdoid tumor','Clinical subtype','A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.'),('99967','Myxoid/round cell liposarcoma','Histopathological subtype','Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.'),('99969','Pleomorphic liposarcoma','Histopathological subtype','Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms).'),('99970','Dedifferentiated liposarcoma','Histopathological subtype','Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .'),('99971','Well-differentiated liposarcoma','Histopathological subtype','Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.'),('99972','OBSOLETE: Immunoglobulin A1 deficiency','Disease','no definition available'),('99973','OBSOLETE: Immunoglobulin A2 deficiency','Disease','no definition available'),('99974','OBSOLETE: TACI-related selective deficiency of IgA','Clinical subtype','no definition available'),('99976','Adenocarcinoma of the esophagus','Disease','Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.'),('99977','Squamous cell carcinoma of the esophagus','Disease','Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.'),('99978','Klatskin tumor','Disease','Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.'),('99981','Apnea of prematurity','Clinical subtype','A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.'),('99983','Cutaneous myiasis','Category','no definition available'),('99985','OBSOLETE: Familial restrictive cardiomyopathy type 1','Etiological subtype','no definition available'),('99986','OBSOLETE: Familial restrictive cardiomyopathy type 2','Etiological subtype','no definition available'),('99987','OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome','Clinical subtype','no definition available'),('99989','Intermediate DEND syndrome','Clinical subtype','Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.'),('99990','Brill-Zinsser disease','Clinical subtype','no definition available'),('99991','Relapsing epidemic typhus','Clinical subtype','no definition available'),('99994','Complex regional pain syndrome type 2','Clinical subtype','Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.'),('99995','Complex regional pain syndrome type 1','Clinical subtype','Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.'); +/*!40000 ALTER TABLE `Diseases` ENABLE KEYS */; +UNLOCK TABLES; + +-- +-- Table structure for table `SymptomInheritances` +-- + +DROP TABLE IF EXISTS `SymptomInheritances`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `SymptomInheritances` ( + `superclass_id` varchar(255) DEFAULT NULL, + `subclass_id` varchar(255) DEFAULT NULL, + KEY `superclass_id` (`superclass_id`), + KEY `subclass_id` (`subclass_id`), + CONSTRAINT `symptominheritances_ibfk_1` FOREIGN KEY (`superclass_id`) REFERENCES `symptoms` (`id`) ON DELETE SET NULL, + CONSTRAINT `symptominheritances_ibfk_2` FOREIGN KEY (`subclass_id`) REFERENCES `symptoms` (`id`) ON DELETE SET NULL +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `SymptomInheritances` +-- + +LOCK TABLES `SymptomInheritances` WRITE; +/*!40000 ALTER TABLE `SymptomInheritances` DISABLE KEYS */; +INSERT INTO `SymptomInheritances` VALUES 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+/*!40000 ALTER TABLE `SymptomInheritances` ENABLE KEYS */; +UNLOCK TABLES; + +-- +-- Table structure for table `Symptoms` +-- + +DROP TABLE IF EXISTS `Symptoms`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `Symptoms` ( + `id` varchar(255) NOT NULL, + `symptom_name` varchar(255) DEFAULT NULL, + `definition` text DEFAULT NULL, + PRIMARY KEY (`id`) +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `Symptoms` +-- + +LOCK TABLES `Symptoms` WRITE; +/*!40000 ALTER TABLE `Symptoms` DISABLE KEYS */; +INSERT INTO `Symptoms` VALUES ('HP:0000001','All',''),('HP:0000002','Abnormality of body height','Deviation from the norm of height with respect to that which is expected according to age and gender norms.'),('HP:0000003','Multicystic kidney dysplasia','Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.'),('HP:0000005','Mode of inheritance','The pattern in which a particular genetic trait or disorder is passed from one generation to the next.'),('HP:0000006','Autosomal dominant inheritance','A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.'),('HP:0000007','Autosomal recessive inheritance','A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).'),('HP:0000008','Abnormal morphology of female internal genitalia','An abnormality of the female internal genitalia.'),('HP:0000009','Functional abnormality of the bladder','Dysfunction of the urinary bladder.'),('HP:0000010','Recurrent urinary tract infections','Repeated infections of the urinary tract.'),('HP:0000011','Neurogenic bladder','A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.'),('HP:0000012','Urinary urgency','Urge incontinence is the strong, sudden need to urinate.'),('HP:0000013','Hypoplasia of the uterus','Underdevelopment of the uterus.'),('HP:0000014','Abnormality of the bladder','An abnormality of the urinary bladder.'),('HP:0000015','Bladder diverticulum','Diverticulum (sac or pouch) in the wall of the urinary bladder.'),('HP:0000016','Urinary retention','Inability to completely empty the urinary bladder during the process of urination.'),('HP:0000017','Nocturia','Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.'),('HP:0000019','Urinary hesitancy','Difficulty in beginning the process of urination.'),('HP:0000020','Urinary incontinence','Loss of the ability to control the urinary bladder leading to involuntary urination.'),('HP:0000021','Megacystis','Dilatation of the bladder postnatally.'),('HP:0000022','Abnormality of male internal genitalia','An abnormality of the male internal genitalia.'),('HP:0000023','Inguinal hernia','Protrusion of the contents of the abdominal cavity through the inguinal canal.'),('HP:0000024','Prostatitis','The presence of inflammation of the prostate.'),('HP:0000025','Functional abnormality of male internal genitalia',''),('HP:0000026','Male hypogonadism','Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.'),('HP:0000027','Azoospermia','Absence of any measurable level of sperm in his semen.'),('HP:0000028','Cryptorchidism','Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.'),('HP:0000029','Testicular atrophy','Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.'),('HP:0000030','Testicular gonadoblastoma','The presence of a gonadoblastoma of the testis.'),('HP:0000031','Epididymitis','The presence of inflammation of the epididymis.'),('HP:0000032','Abnormality of male external genitalia','An abnormality of male external genitalia.'),('HP:0000033','Ambiguous genitalia, male','Ambiguous genitalia in an individual with XY genetic gender.'),('HP:0000034','Hydrocele testis','Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.'),('HP:0000035','Abnormal testis morphology','An anomaly of the testicle (the male gonad).'),('HP:0000036','Abnormality of the penis',''),('HP:0000037','Male pseudohermaphroditism','Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.'),('HP:0000039','Epispadias','Displacement of the urethral opening on the dorsal (superior) surface of the penis.'),('HP:0000040','Long penis','Penile length more than 2 SD above the mean for age.'),('HP:0000041','Chordee','Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.'),('HP:0000042','Absent external genitalia','Lack of external genitalia in a male or female individual.'),('HP:0000044','Hypogonadotropic hypogonadism','Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).'),('HP:0000045','Abnormality of the scrotum',''),('HP:0000046','Scrotal hypoplasia',''),('HP:0000047','Hypospadias','Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.'),('HP:0000048','Bifid scrotum','Midline indentation or cleft of the scrotum.'),('HP:0000049','Shawl scrotum','Superior margin of the scrotum superior to the base of the penis.'),('HP:0000050','Hypoplastic male external genitalia','Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).'),('HP:0000051','Perineal hypospadias','Hypospadias with location of the urethral meatus in the perineal region.'),('HP:0000052','Urethral atresia, male','Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.'),('HP:0000053','Macroorchidism','The presence of abnormally large testes.'),('HP:0000054','Micropenis','Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.'),('HP:0000055','Abnormality of female external genitalia','An abnormality of the female external genitalia.'),('HP:0000056','Abnormality of the clitoris','An abnormality of the clitoris.'),('HP:0000057','obsolete Clitoromegaly',''),('HP:0000058','Abnormality of the labia','An anomaly of the labia, the externally visible portions of the vulva.'),('HP:0000059','Hypoplastic labia majora','Undergrowth of the outer labia.'),('HP:0000060','Clitoral hypoplasia','Developmental hypoplasia of the clitoris.'),('HP:0000061','Ambiguous genitalia, female','Ambiguous genitalia in an individual with XX genetic gender.'),('HP:0000062','Ambiguous genitalia','A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.'),('HP:0000063','Fused labia minora','Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.'),('HP:0000064','Hypoplastic labia minora',''),('HP:0000065','Labial hypertrophy',''),('HP:0000066','Labial hypoplasia',''),('HP:0000067','Urethral atresia, female','Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.'),('HP:0000068','Urethral atresia','Congenital anomaly characterized by closure or failure to develop an opening in the urethra.'),('HP:0000069','Abnormality of the ureter','An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.'),('HP:0000070','Ureterocele','A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.'),('HP:0000071','Ureteral stenosis','The presence of a stenotic, i.e., constricted ureter.'),('HP:0000072','Hydroureter','The distention of the ureter with urine.'),('HP:0000073','Ureteral duplication','A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.'),('HP:0000074','Ureteropelvic junction obstruction','Blockage of urine flow from the renal pelvis to the proximal ureter.'),('HP:0000075','Renal duplication','A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.'),('HP:0000076','Vesicoureteral reflux','Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.'),('HP:0000077','Abnormality of the kidney','An abnormality of the kidney.'),('HP:0000078','Abnormality of the genital system','An abnormality of the genital system.'),('HP:0000079','Abnormality of the urinary system','An abnormality of the urinary system.'),('HP:0000080','Abnormality of reproductive system physiology','An abnormal functionality of the genital system.'),('HP:0000081','Duplicated collecting system','A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.'),('HP:0000083','Renal insufficiency','A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.'),('HP:0000085','Horseshoe kidney','A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.'),('HP:0000086','Ectopic kidney','A developmental defect in which a kidney is located in an abnormal anatomic position.'),('HP:0000089','Renal hypoplasia','Hypoplasia of the kidney.'),('HP:0000090','Nephronophthisis','Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.'),('HP:0000091','Abnormal renal tubule morphology','An abnormality of the renal tubules.'),('HP:0000092','Renal tubular atrophy','The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.'),('HP:0000093','Proteinuria','Increased levels of protein in the urine.'),('HP:0000095','Abnormality of renal glomerulus morphology','A structural anomaly of the glomerulus.'),('HP:0000096','Glomerulosclerosis','Accumulation of scar tissue within the glomerulus.'),('HP:0000097','Focal segmental glomerulosclerosis','Segmental accumulation of scar tissue in individual (but not all) glomeruli.'),('HP:0000098','Tall stature','A height above that which is expected according to age and gender norms.'),('HP:0000099','Glomerulonephritis','Inflammation of the renal glomeruli.'),('HP:0000100','Nephrotic syndrome','Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.'),('HP:0000103','Polyuria','An increased rate of urine production.'),('HP:0000104','Renal agenesis','Agenesis, that is, failure of the kidney to develop during embryogenesis and development.'),('HP:0000105','Enlarged kidney','An abnormal increase in the size of the kidney.'),('HP:0000107','Renal cyst','A fluid filled sac in the kidney.'),('HP:0000108','Renal corticomedullary cysts','The presence of multiple cysts at the border between the renal cortex and medulla.'),('HP:0000110','Renal dysplasia','The presence of developmental dysplasia of the kidney.'),('HP:0000111','Renal juxtaglomerular cell hypertrophy/hyperplasia','Increased number and size of the juxtaglomerular cells.'),('HP:0000112','Nephropathy','A nonspecific term referring to disease or damage of the kidneys.'),('HP:0000113','Polycystic kidney dysplasia','The presence of multiple cysts in both kidneys.'),('HP:0000114','Proximal tubulopathy','Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman`s capsule to the loop of Henle.'),('HP:0000117','Renal phosphate wasting','High urine phosphate in the presence of hypophosphatemia.'),('HP:0000118','Phenotypic abnormality','A phenotypic abnormality.'),('HP:0000119','Abnormality of the genitourinary system','The presence of any abnormality of the genitourinary system.'),('HP:0000121','Nephrocalcinosis','Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.'),('HP:0000122','Unilateral renal agenesis','A unilateral form of agenesis of the kidney.'),('HP:0000123','Nephritis','The presence of inflammation affecting the kidney.'),('HP:0000124','Renal tubular dysfunction','Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.'),('HP:0000125','Pelvic kidney','A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.'),('HP:0000126','Hydronephrosis','Severe distention of the kidney with dilation of the renal pelvis and calices.'),('HP:0000127','Renal salt wasting','A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).'),('HP:0000128','Renal potassium wasting','High urine potassium in the presence of hypokalemia.'),('HP:0000130','Abnormality of the uterus','An abnormality of the uterus.'),('HP:0000131','Uterine leiomyoma','The presence of a leiomyoma of the uterus.'),('HP:0000132','Menorrhagia','Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.'),('HP:0000133','Gonadal dysgenesis',''),('HP:0000134','Female hypogonadism','Decreased functionality of the female gonads, i.e., of the ovary.'),('HP:0000135','Hypogonadism','A decreased functionality of the gonad.'),('HP:0000136','Bifid uterus','The presence of a bifid uterus.'),('HP:0000137','Abnormality of the ovary','An abnormality of the ovary.'),('HP:0000138','Ovarian cyst','The presence of one or more cysts of the ovary.'),('HP:0000139','Uterine prolapse','The presence of prolapse of the uterus.'),('HP:0000140','Abnormality of the menstrual cycle','An abnormality of the ovulation cycle.'),('HP:0000141','Amenorrhea','Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.'),('HP:0000142','Abnormal vagina morphology','Any structural abnormality of the vagina.'),('HP:0000143','Rectovaginal fistula','The presence of a fistula between the vagina and the rectum.'),('HP:0000144','Decreased fertility',''),('HP:0000145','Transverse vaginal septum',''),('HP:0000147','Polycystic ovaries',''),('HP:0000148','Vaginal atresia','Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.'),('HP:0000149','Ovarian gonadoblastoma','The presence of a gonadoblastoma of the ovary.'),('HP:0000150','Gonadoblastoma','The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.'),('HP:0000151','Aplasia of the uterus','Aplasia of the uterus.'),('HP:0000152','Abnormality of head or neck','An abnormality of head and neck.'),('HP:0000153','Abnormality of the mouth','An abnormality of the mouth.'),('HP:0000154','Wide mouth','Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).'),('HP:0000155','Oral ulcer','Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.'),('HP:0000157','Abnormality of the tongue','Any abnormality of the tongue.'),('HP:0000158','Macroglossia','Increased length and width of the tongue.'),('HP:0000159','Abnormal lip morphology','An abnormality of the lip.'),('HP:0000160','Narrow mouth','Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).'),('HP:0000161','Median cleft lip','A type of cleft lip presenting as a midline (median) gap in the upper lip.'),('HP:0000162','Glossoptosis','Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.'),('HP:0000163','Abnormal oral cavity morphology','Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.'),('HP:0000164','Abnormality of the dentition','Any abnormality of the teeth.'),('HP:0000166','Severe periodontitis','A severe form of periodontitis.'),('HP:0000168','Abnormality of the gingiva','Any abnormality of the gingiva (also known as gums).'),('HP:0000169','Gingival fibromatosis','The presence of fibrosis of the gingiva.'),('HP:0000171','Microglossia','Decreased length and width of the tongue.'),('HP:0000172','Abnormality of the uvula','Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.'),('HP:0000174','Abnormal palate morphology','Any abnormality of the palate, i.e., of roof of the mouth.'),('HP:0000175','Cleft palate','Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).'),('HP:0000176','Submucous cleft hard palate','Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.'),('HP:0000177','Abnormality of upper lip','An abnormality of the upper lip.'),('HP:0000178','Abnormality of lower lip','An abnormality of the lower lip.'),('HP:0000179','Thick lower lip vermilion','Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).'),('HP:0000180','Lobulated tongue','Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.'),('HP:0000182','Movement abnormality of the tongue',''),('HP:0000183','Difficulty in tongue movements',''),('HP:0000185','Cleft soft palate','Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.'),('HP:0000187','Broad alveolar ridges',''),('HP:0000188','Short upper lip','Decreased width of the upper lip.'),('HP:0000189','Narrow palate','Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).'),('HP:0000190','Abnormal oral frenulum morphology','An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.'),('HP:0000191','Accessory oral frenulum','Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.'),('HP:0000193','Bifid uvula','Uvula separated into two parts most easily seen at the tip.'),('HP:0000194','Open mouth','A facial appearance characterized by a permanently or nearly permanently opened mouth.'),('HP:0000196','Lower lip pit','Depression located on the vermilion of the lower lip, usually paramedian.'),('HP:0000197','Abnormal parotid gland morphology','Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.'),('HP:0000198','Absence of Stensen duct',''),('HP:0000199','Tongue nodules',''),('HP:0000200','Short lingual frenulum','The presence of an abnormally short lingual frenulum.'),('HP:0000201','Pierre-Robin sequence','Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.'),('HP:0000202','Oral cleft','The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.'),('HP:0000204','Cleft upper lip','A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.'),('HP:0000205','Pursed lips','An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.'),('HP:0000206','Glossitis','Inflammation of the tongue.'),('HP:0000207','Triangular mouth','The presence of a triangular form of the mouth.'),('HP:0000211','Trismus','Limitation in the ability to open the mouth.'),('HP:0000212','Gingival overgrowth','Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.'),('HP:0000214','Lip telangiectasia','Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.'),('HP:0000215','Thick upper lip vermilion','Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).'),('HP:0000216','Broad secondary alveolar ridge',''),('HP:0000217','Xerostomia','Dryness of the mouth due to salivary gland dysfunction.'),('HP:0000218','High palate','Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).'),('HP:0000219','Thin upper lip vermilion','Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).'),('HP:0000220','Velopharyngeal insufficiency','Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.'),('HP:0000221','Furrowed tongue','Accentuation of the grooves on the dorsal surface of the tongue.'),('HP:0000222','Gingival hyperkeratosis','Hyperkeratosis of the gingiva.'),('HP:0000223','Abnormality of taste sensation',''),('HP:0000224','Decreased taste sensation',''),('HP:0000225','Gingival bleeding','Hemorrhage affecting the gingiva.'),('HP:0000227','Tongue telangiectasia','Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.'),('HP:0000228','Oral cavity telangiectasia','Presence of telangiectases in the oral cavity.'),('HP:0000230','Gingivitis','Inflammation of the gingiva.'),('HP:0000232','Everted lower lip vermilion','An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.'),('HP:0000233','Thin vermilion border','Reduced width of the skin of vermilion border region of upper lip.'),('HP:0000234','Abnormality of the head','An abnormality of the head.'),('HP:0000235','Abnormality of the fontanelles or cranial sutures','Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ).'),('HP:0000236','Abnormality of the anterior fontanelle','An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.'),('HP:0000237','Small anterior fontanelle','Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.'),('HP:0000238','Hydrocephalus','Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.'),('HP:0000239','Large fontanelles','In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.'),('HP:0000240','Abnormality of skull size','Any abnormality of the size of the skull.'),('HP:0000242','Parietal bossing','Parietal bossing is a marked prominence in the parietal region.'),('HP:0000243','Trigonocephaly','Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.'),('HP:0000244','Brachyturricephaly','Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.'),('HP:0000245','Abnormality of the paranasal sinuses','Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.'),('HP:0000246','Sinusitis','Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.'),('HP:0000248','Brachycephaly','An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.'),('HP:0000250','Dense calvaria','An abnormal increase of density of the bones making up the calvaria.'),('HP:0000252','Microcephaly','Head circumference below 2 standard deviations below the mean for age and gender.'),('HP:0000253','Progressive microcephaly','Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.'),('HP:0000255','Acute sinusitis','An acute form of sinusitis.'),('HP:0000256','Macrocephaly','Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.'),('HP:0000260','Wide anterior fontanel','Enlargement of the anterior fontanelle with respect to age-dependent norms.'),('HP:0000262','Turricephaly','Tall head relative to width and length.'),('HP:0000263','Oxycephaly','Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.'),('HP:0000264','Abnormality of the mastoid','An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.'),('HP:0000265','Mastoiditis',''),('HP:0000267','Cranial asymmetry','Asymmetry of the bones of the skull.'),('HP:0000268','Dolichocephaly','An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.'),('HP:0000269','Prominent occiput','Increased convexity of the occiput (posterior part of the skull).'),('HP:0000270','Delayed cranial suture closure','Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.'),('HP:0000271','Abnormality of the face','An abnormality of the face.'),('HP:0000272','Malar flattening','Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.'),('HP:0000273','Facial grimacing',''),('HP:0000274','Small face','A face that is short (HP:0011219) and narrow (HP:0000275).'),('HP:0000275','Narrow face','Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).'),('HP:0000276','Long face','Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).'),('HP:0000277','Abnormality of the mandible','Any abnormality of the mandible, the bone of the lower jaw.'),('HP:0000278','Retrognathia','An abnormality in which the mandible is mislocalised posteriorly.'),('HP:0000280','Coarse facial features','Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.'),('HP:0000282','Facial edema',''),('HP:0000283','Broad face','Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).'),('HP:0000284','obsolete Abnormality of the ocular region',''),('HP:0000286','Epicanthus','A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.'),('HP:0000287','Increased facial adipose tissue','An increased amount of subcutaneous fat tissue in the face.'),('HP:0000288','Abnormality of the philtrum','An abnormality of the philtrum.'),('HP:0000289','Broad philtrum','Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.'),('HP:0000290','Abnormality of the forehead','An anomaly of the forehead.'),('HP:0000291','Abnormality of facial adipose tissue',''),('HP:0000292','Loss of facial adipose tissue','Loss of normal subcutaneous fat tissue in the face.'),('HP:0000293','Full cheeks','Increased prominence or roundness of soft tissues between zygomata and mandible.'),('HP:0000294','Low anterior hairline','Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.'),('HP:0000295','Doll-like facies','A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.'),('HP:0000297','Facial hypotonia','Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).'),('HP:0000298','Mask-like facies','A lack of facial expression often with staring eyes and a slightly open mouth.'),('HP:0000300','Oval face','A face with a rounded and slightly elongated outline.'),('HP:0000301','Abnormality of facial musculature','An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).'),('HP:0000303','Mandibular prognathia','Abnormal prominence of the chin related to increased length of the mandible.'),('HP:0000306','Abnormality of the chin','An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.'),('HP:0000307','Pointed chin','A marked tapering of the lower face to the chin.'),('HP:0000308','Microretrognathia','A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.'),('HP:0000309','Abnormality of the midface','An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.'),('HP:0000311','Round face','The facial appearance is more circular than usual as viewed from the front.'),('HP:0000315','Abnormality of the orbital region',''),('HP:0000316','Hypertelorism','Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).'),('HP:0000317','Facial myokymia','Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0000319','Smooth philtrum','Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.'),('HP:0000320','Bird-like facies',''),('HP:0000321','Square face','Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.'),('HP:0000322','Short philtrum','Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.'),('HP:0000324','Facial asymmetry','An abnormal difference between the left and right sides of the face.'),('HP:0000325','Triangular face','Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.'),('HP:0000326','Abnormality of the maxilla','An abnormality of the Maxilla (upper jaw bone).'),('HP:0000327','Hypoplasia of the maxilla','Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.'),('HP:0000329','Facial hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.'),('HP:0000331','Short chin','Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.'),('HP:0000336','Prominent supraorbital ridges','Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.'),('HP:0000337','Broad forehead','Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.'),('HP:0000338','Hypomimic face','A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.'),('HP:0000339','Pugilistic facies','Coarse facial features reminiscent of those of a boxer.'),('HP:0000340','Sloping forehead','Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.'),('HP:0000341','Narrow forehead','Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).'),('HP:0000343','Long philtrum','Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.'),('HP:0000346','Whistling appearance','An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.'),('HP:0000347','Micrognathia','Developmental hypoplasia of the mandible.'),('HP:0000348','High forehead','An abnormally increased height of the forehead.'),('HP:0000349','Widow`s peak','Frontal hairline with bilateral arcs to a low point in the midline of the forehead.'),('HP:0000350','Small forehead','The presence of a forehead that is abnormally small.'),('HP:0000356','Abnormality of the outer ear','An abnormality of the external ear.'),('HP:0000357','Abnormal location of ears','Abnormal location of the ear.'),('HP:0000358','Posteriorly rotated ears','A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).'),('HP:0000359','Abnormality of the inner ear','An abnormality of the inner ear.'),('HP:0000360','Tinnitus','Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.'),('HP:0000361','obsolete Pulsatile tinnitus (tympanic paraganglioma)',''),('HP:0000362','Otosclerosis','In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.'),('HP:0000363','Abnormality of earlobe','An abnormality of the lobule of pinna.'),('HP:0000364','Hearing abnormality','An abnormality of the sensory perception of sound.'),('HP:0000365','Hearing impairment','A decreased magnitude of the sensory perception of sound.'),('HP:0000366','Abnormality of the nose','An abnormality of the nose.'),('HP:0000368','Low-set, posteriorly rotated ears','Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).'),('HP:0000369','Low-set ears','Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.'),('HP:0000370','Abnormality of the middle ear','An abnormality of the middle ear.'),('HP:0000371','Acute otitis media','Acute otitis media is a short and generally painful infection of the middle ear.'),('HP:0000372','Abnormality of the auditory canal','An abnormality of the External acoustic tube (also known as the auditory canal).'),('HP:0000375','Abnormal cochlea morphology','An abnormality of the cochlea.'),('HP:0000376','Incomplete partition of the cochlea type II','IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.'),('HP:0000377','Abnormality of the pinna','An abnormality of the pinna, which is also referred to as the auricle or external ear.'),('HP:0000378','Cupped ear','Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).'),('HP:0000381','Stapes ankylosis','Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).'),('HP:0000383','Abnormality of periauricular region',''),('HP:0000384','Preauricular skin tag','A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).'),('HP:0000385','Small earlobe','Reduced volume of the earlobe.'),('HP:0000387','Absent earlobe','Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.'),('HP:0000388','Otitis media','Inflammation or infection of the middle ear.'),('HP:0000389','Chronic otitis media','Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.'),('HP:0000391','Thickened helices','Increased thickness of the helix of the ear.'),('HP:0000394','Lop ear','Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.'),('HP:0000395','Prominent antihelix','The presence of an abnormally prominent antihelix.'),('HP:0000396','Overfolded helix','A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.'),('HP:0000399','Prelingual sensorineural hearing impairment','A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.'),('HP:0000400','Macrotia','Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).'),('HP:0000402','Stenosis of the external auditory canal','An abnormal narrowing of the external auditory canal.'),('HP:0000403','Recurrent otitis media','Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.'),('HP:0000405','Conductive hearing impairment','An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.'),('HP:0000407','Sensorineural hearing impairment','A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.'),('HP:0000408','Progressive sensorineural hearing impairment','A progressive form of sensorineural hearing impairment.'),('HP:0000410','Mixed hearing impairment','A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.'),('HP:0000411','Protruding ear','Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).'),('HP:0000413','Atresia of the external auditory canal','Absence or failure to form of the external auditory canal.'),('HP:0000414','Bulbous nose','Increased volume and globular shape of the anteroinferior aspect of the nose.'),('HP:0000415','Abnormality of the choanae','Abnormality of the choanae (the posterior nasal apertures).'),('HP:0000417','Slender nose',''),('HP:0000418','Narrow nasal ridge','Decreased width of the nasal ridge.'),('HP:0000419','Abnormality of the nasal septum','An abnormality of the nasal septum.'),('HP:0000420','Short nasal septum','Reduced superior to inferior length of the nasal septum.'),('HP:0000421','Epistaxis','Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.'),('HP:0000422','Abnormality of the nasal bridge','Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.'),('HP:0000426','Prominent nasal bridge','Anterior positioning of the nasal root in comparison to the usual positioning for age.'),('HP:0000429','Abnormality of the nasal alae','An abnormality of the Ala of nose.'),('HP:0000430','Underdeveloped nasal alae','Thinned, deficient, or excessively arched ala nasi.'),('HP:0000431','Wide nasal bridge','Increased breadth of the nasal bridge (and with it, the nasal root).'),('HP:0000433','Abnormality of the nasal mucosa',''),('HP:0000434','Nasal mucosa telangiectasia','Telangiectasia of the nasal mucosa.'),('HP:0000436','Abnormality of the nasal tip','An abnormality of the nasal tip.'),('HP:0000437','Depressed nasal tip','Decreased distance from the nasal tip to the nasal base.'),('HP:0000444','Convex nasal ridge','Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.'),('HP:0000445','Wide nose','Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.'),('HP:0000446','Narrow nasal bridge','Decreased width of the bony bridge of the nose.'),('HP:0000447','Pear-shaped nose',''),('HP:0000448','Prominent nose','Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.'),('HP:0000451','Triangular nasal tip',''),('HP:0000452','Choanal stenosis','Abnormal narrowing of the choana (the posterior nasal aperture).'),('HP:0000453','Choanal atresia','Absence or abnormal closure of the choana (the posterior nasal aperture).'),('HP:0000454','Flared nostrils',''),('HP:0000455','Broad nasal tip','Increase in width of the nasal tip.'),('HP:0000456','Bifid nasal tip','A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.'),('HP:0000457','Depressed nasal ridge','Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.'),('HP:0000458','Anosmia','An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.'),('HP:0000460','Narrow nose','Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.'),('HP:0000463','Anteverted nares','Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).'),('HP:0000464','Abnormality of the neck','An abnormality of the neck.'),('HP:0000465','Webbed neck','Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.'),('HP:0000466','Limited neck range of motion',''),('HP:0000467','Neck muscle weakness','Decreased strength of the neck musculature.'),('HP:0000468','Increased adipose tissue around the neck','An increased amount of subcutaneous fat tissue around the neck.'),('HP:0000470','Short neck','Diminished length of the neck.'),('HP:0000471','Gastrointestinal angiodysplasia','Dysplasia affecting the vasculature of the gastrointestinal tract.'),('HP:0000472','Long neck','Increased inferior-superior length of the neck.'),('HP:0000473','Torticollis','Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.'),('HP:0000474','Thickened nuchal skin fold','A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637).'),('HP:0000475','Broad neck','Increased side-to-side width of the neck.'),('HP:0000476','Cystic hygroma','A cystic lymphatic lesion of the neck.'),('HP:0000478','Abnormality of the eye','Any abnormality of the eye, including location, spacing, and intraocular abnormalities.'),('HP:0000479','Abnormal retinal morphology','A structural abnormality of the retina.'),('HP:0000480','Retinal coloboma','A notch or cleft of the retina.'),('HP:0000481','Abnormal cornea morphology','Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.'),('HP:0000482','Microcornea','A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.'),('HP:0000483','Astigmatism','A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.'),('HP:0000484','Hyperopic astigmatism','A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.'),('HP:0000485','Megalocornea','An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.'),('HP:0000486','Strabismus','A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.'),('HP:0000487','obsolete Congenital strabismus',''),('HP:0000488','Retinopathy','Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.'),('HP:0000489','obsolete Abnormality of globe location or size',''),('HP:0000490','Deeply set eye','An eye that is more deeply recessed into the plane of the face than is typical.'),('HP:0000491','Keratitis','Inflammation of the cornea.'),('HP:0000492','Abnormal eyelid morphology','An abnormality of the eyelids.'),('HP:0000493','Abnormal foveal morphology','An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.'),('HP:0000494','Downslanted palpebral fissures','The palpebral fissure inclination is more than two standard deviations below the mean.'),('HP:0000495','Recurrent corneal erosions','The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.'),('HP:0000496','Abnormality of eye movement','An abnormality in voluntary or involuntary eye movements or their control.'),('HP:0000497','Globe retraction and deviation on abduction',''),('HP:0000498','Blepharitis','Inflammation of the eyelids.'),('HP:0000499','Abnormal eyelash morphology','An abnormality of the eyelashes.'),('HP:0000501','Glaucoma','Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.'),('HP:0000502','Abnormal conjunctiva morphology','An abnormality of the conjunctiva.'),('HP:0000503','Tortuosity of conjunctival vessels','The presence of an increased number of twists and turns of the conjunctival blood vessels.'),('HP:0000504','Abnormality of vision','Abnormality of eyesight (visual perception).'),('HP:0000505','Visual impairment','Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.'),('HP:0000506','Telecanthus','Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.'),('HP:0000508','Ptosis','The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).'),('HP:0000509','Conjunctivitis','Inflammation of the conjunctiva.'),('HP:0000510','Rod-cone dystrophy','An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.'),('HP:0000511','Vertical supranuclear gaze palsy','A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.'),('HP:0000512','Abnormal electroretinogram','Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.'),('HP:0000514','Slow saccadic eye movements','An abnormally slow velocity of the saccadic eye movements.'),('HP:0000517','Abnormality of the lens','An abnormality of the lens.'),('HP:0000518','Cataract','A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.'),('HP:0000519','Developmental cataract','A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.'),('HP:0000520','Proptosis','An eye that is protruding anterior to the plane of the face to a greater extent than is typical.'),('HP:0000522','Alacrima','Absence of tear secretion.'),('HP:0000523','Subcapsular cataract','A cataract that affects the region of the lens directly beneath the capsule of the lens.'),('HP:0000524','Conjunctival telangiectasia','The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.'),('HP:0000525','Abnormality iris morphology','An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.'),('HP:0000526','Aniridia','Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.'),('HP:0000527','Long eyelashes','Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).'),('HP:0000528','Anophthalmia','Absence of the globe or eyeball.'),('HP:0000529','Progressive visual loss','A reduction of previously attained ability to see.'),('HP:0000531','Corneal crystals',''),('HP:0000532','Abnormal chorioretinal morphology','An abnormality of the choroid and retina.'),('HP:0000533','Chorioretinal atrophy','Atrophy of the choroid and retinal layers of the fundus.'),('HP:0000534','Abnormal eyebrow morphology','An abnormality of the eyebrow.'),('HP:0000535','Sparse and thin eyebrow','Decreased density/number and/or decreased diameter of eyebrow hairs.'),('HP:0000537','Epicanthus inversus','A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.'),('HP:0000538','Pseudopapilledema','Apparent optic disc swelling in the absence of increased intracranial pressure.'),('HP:0000539','Abnormality of refraction','An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.'),('HP:0000540','Hypermetropia','An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.'),('HP:0000541','Retinal detachment','Separation of the inner layers of the retina (neural retina) from the pigment epithelium.'),('HP:0000542','Impaired ocular adduction','Reduced ability to move the eye in the direction of the nose.'),('HP:0000543','Optic disc pallor','A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.'),('HP:0000544','External ophthalmoplegia','Paralysis of the external ocular muscles.'),('HP:0000545','Myopia','An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.'),('HP:0000546','Retinal degeneration','A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.'),('HP:0000547','obsolete Tapetoretinal degeneration',''),('HP:0000548','Cone/cone-rod dystrophy',''),('HP:0000549','Abnormal conjugate eye movement','Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.'),('HP:0000550','Undetectable electroretinogram','Lack of any response to stimulation upon electroretinography.'),('HP:0000551','Color vision defect','An anomaly in the ability to discriminate between or recognize colors.'),('HP:0000552','Tritanomaly','Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.'),('HP:0000553','Abnormal uvea morphology','An abnormality of the uvea, the vascular layer of the eyeball.'),('HP:0000554','Uveitis','Inflammation of one or all portions of the uveal tract.'),('HP:0000555','Leukocoria','An abnormal white reflection from the pupil rather than the usual black reflection.'),('HP:0000556','Retinal dystrophy','Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.'),('HP:0000557','Buphthalmos','Diffusely large eye (with megalocornea) associated with glaucoma.'),('HP:0000558','Rieger anomaly','A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.'),('HP:0000559','Corneal scarring',''),('HP:0000561','Absent eyelashes','Lack of eyelashes.'),('HP:0000563','Keratoconus','A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.'),('HP:0000564','Lacrimal duct atresia','A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.'),('HP:0000565','Esotropia','A form of strabismus with one or both eyes turned inward (`crossed`) to a relatively severe degree, usually defined as 10 diopters or more.'),('HP:0000567','Chorioretinal coloboma','Absence of a region of the retina, retinal pigment epithelium, and choroid.'),('HP:0000568','Microphthalmia','A developmental anomaly characterized by abnormal smallness of one or both eyes.'),('HP:0000570','Abnormal saccadic eye movements','An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.'),('HP:0000571','Hypometric saccades','Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.'),('HP:0000572','Visual loss','Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).'),('HP:0000573','Retinal hemorrhage','Hemorrhage occurring within the retina.'),('HP:0000574','Thick eyebrow','Increased density/number and/or increased diameter of eyebrow hairs.'),('HP:0000575','Scotoma','A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.'),('HP:0000576','Centrocecal scotoma','A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.'),('HP:0000577','Exotropia','A form of strabismus with one or both eyes deviated outward.'),('HP:0000579','Nasolacrimal duct obstruction','Blockage of the lacrimal duct.'),('HP:0000580','Pigmentary retinopathy','An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.'),('HP:0000581','Blepharophimosis','A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.'),('HP:0000582','Upslanted palpebral fissure','The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.'),('HP:0000584','Punctate corneal epithelial erosions',''),('HP:0000585','Band keratopathy','An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.'),('HP:0000586','Shallow orbits','Reduced depth of the orbits associated with prominent-appearing ocular globes.'),('HP:0000587','Abnormality of the optic nerve','Abnormality of the optic nerve.'),('HP:0000588','Optic nerve coloboma','A cleft of the optic nerve that extends inferiorly.'),('HP:0000589','Coloboma','A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.'),('HP:0000590','Progressive external ophthalmoplegia','Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.'),('HP:0000591','Abnormal sclera morphology','An abnormality of the sclera.'),('HP:0000592','Blue sclerae','An abnormal bluish coloration of the sclera.'),('HP:0000593','Abnormal anterior chamber morphology','Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.'),('HP:0000594','Shallow anterior chamber','Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.'),('HP:0000597','Ophthalmoparesis','Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.'),('HP:0000598','Abnormality of the ear','An abnormality of the ear.'),('HP:0000599','Abnormality of the frontal hairline','An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.'),('HP:0000600','Abnormality of the pharynx','An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.'),('HP:0000601','Hypotelorism','Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).'),('HP:0000602','Ophthalmoplegia','Paralysis of one or more extraocular muscles that are responsible for eye movements.'),('HP:0000603','Central scotoma','An area of depressed vision located at the point of fixation and that interferes with central vision.'),('HP:0000605','Supranuclear gaze palsy','A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.'),('HP:0000606','Abnormality of the periorbital region','An abnormality of the region situated around the orbit of the eye.'),('HP:0000607','Periorbital wrinkles',''),('HP:0000608','Macular degeneration','A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.'),('HP:0000609','Optic nerve hypoplasia','Underdevelopment of the optic nerve.'),('HP:0000610','Abnormal choroid morphology','Any structural abnormality of the choroid.'),('HP:0000611','obsolete Choroid coloboma',''),('HP:0000612','Iris coloboma','A coloboma of the iris.'),('HP:0000613','Photophobia','Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.'),('HP:0000614','Abnormal nasolacrimal system morphology','An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.'),('HP:0000615','Abnormal pupil morphology','An abnormality of the pupil.'),('HP:0000616','Miosis','Abnormal (non-physiological) constriction of the pupil.'),('HP:0000617','Abnormality of ocular smooth pursuit','An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.'),('HP:0000618','Blindness','Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.'),('HP:0000619','Impaired convergence','Reduced ability to turn the eyes inward in order to focus on a nearby object.'),('HP:0000620','Dacryocystitis','Inflammation of the nasolacrimal sac.'),('HP:0000621','Entropion','An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.'),('HP:0000622','Blurred vision','Lack of sharpness of vision resulting in the inability to see fine detail.'),('HP:0000623','Supranuclear ophthalmoplegia','A vertical gaze palsy with inability to direct the gaze of the eyes downwards.'),('HP:0000625','Eyelid coloboma','A short discontinuity of the margin of the lower or upper eyelid.'),('HP:0000627','Posterior embryotoxon','A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.'),('HP:0000629','Periorbital fullness','Increase in periorbital soft tissue.'),('HP:0000630','Abnormal retinal artery morphology',''),('HP:0000631','Retinal arterial tortuosity','The presence of an increased number of twists and turns of the retinal artery.'),('HP:0000632','Lacrimation abnormality','Abnormality of tear production.'),('HP:0000633','Decreased lacrimation','Abnormally decreased lacrimation, that is, reduced ability to produce tears.'),('HP:0000634','Impaired ocular abduction','An impaired ability of the eye to move in the outward direction (towards the side of the head).'),('HP:0000635','Blue irides','A markedly blue coloration of the iris.'),('HP:0000636','Upper eyelid coloboma','A short discontinuity of the margin of the upper eyelid.'),('HP:0000637','Long palpebral fissure','Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.'),('HP:0000639','Nystagmus','Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.'),('HP:0000640','Gaze-evoked nystagmus','Nystagmus made apparent by looking to the right or to the left.'),('HP:0000641','Dysmetric saccades','The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.'),('HP:0000642','Red-green dyschromatopsia','Difficulty with discriminating red and green hues.'),('HP:0000643','Blepharospasm','A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.'),('HP:0000646','Amblyopia','Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.'),('HP:0000647','Sclerocornea','A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.'),('HP:0000648','Optic atrophy','Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.'),('HP:0000649','Abnormality of visual evoked potentials','An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.'),('HP:0000650','Abnormal amplitude of pattern reversal visual evoked potentials',''),('HP:0000651','Diplopia','Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.'),('HP:0000652','Lower eyelid coloboma','A short discontinuity of the margin of the lower eyelid.'),('HP:0000653','Sparse eyelashes','Decreased density/number of eyelashes.'),('HP:0000654','Decreased light- and dark-adapted electroretinogram amplitude','Descreased amplitude of eletrical response upon electroretinography.'),('HP:0000655','obsolete Vitreoretinal degeneration',''),('HP:0000656','Ectropion','An outward turning (eversion) or rotation of the eyelid margin.'),('HP:0000657','Oculomotor apraxia','Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.'),('HP:0000658','Eyelid apraxia',''),('HP:0000659','Peters anomaly','A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.'),('HP:0000660','Lipemia retinalis','A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.'),('HP:0000661','Palpebral fissure narrowing on adduction',''),('HP:0000662','Nyctalopia','Inability to see well at night or in poor light.'),('HP:0000664','Synophrys','Meeting of the medial eyebrows in the midline.'),('HP:0000666','Horizontal nystagmus','Nystagmus consisting of horizontal to-and-fro eye movements.'),('HP:0000667','Phthisis bulbi','Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.'),('HP:0000668','Hypodontia','A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.'),('HP:0000670','Carious teeth','Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.'),('HP:0000674','Anodontia','The congenital absence of all teeth.'),('HP:0000675','Macrodontia of permanent maxillary central incisor','Increased size of the maxillary central secondary incisor tooth.'),('HP:0000676','Abnormality of the incisor','An abnormality of the Incisor tooth.'),('HP:0000677','Oligodontia','A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.'),('HP:0000678','Dental crowding','Overlapping teeth within an alveolar ridge.'),('HP:0000679','Taurodontia','Increased volume of dental pulp of permanent molar.'),('HP:0000680','Delayed eruption of primary teeth','Delayed tooth eruption affecting the primary dentition.'),('HP:0000682','Abnormality of dental enamel','An abnormality of the dental enamel.'),('HP:0000683','Grayish enamel','A grey discoloration of the dental enamel.'),('HP:0000684','Delayed eruption of teeth','Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.'),('HP:0000685','Hypoplasia of teeth','Developmental hypoplasia of teeth.'),('HP:0000687','Widely spaced teeth','Increased spaces (diastemata) between most of the teeth in the same dental arch.'),('HP:0000689','Dental malocclusion','Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.'),('HP:0000690','Agenesis of maxillary lateral incisor','Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.'),('HP:0000691','Microdontia','Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.'),('HP:0000692','Misalignment of teeth','Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.'),('HP:0000694','Shell teeth','A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.'),('HP:0000695','Natal tooth','Erupted tooth or teeth at birth.'),('HP:0000696','Delayed eruption of permanent teeth','Delayed tooth eruption affecting the secondary dentition.'),('HP:0000698','Conical tooth','An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.'),('HP:0000699','Diastema','Increased space between two adjacent teeth in the same dental arch.'),('HP:0000700','Periapical bone loss','Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).'),('HP:0000703','Dentinogenesis imperfecta','Developmental dysplasia of dentin.'),('HP:0000704','Periodontitis','Inflammation of the periodontium.'),('HP:0000705','Amelogenesis imperfecta','A developmental dysplasia of the dental enamel.'),('HP:0000706','Unerupted tooth','The presence of one or more embedded tooth germs which have failed to erupt.'),('HP:0000707','Abnormality of the nervous system','An abnormality of the nervous system.'),('HP:0000708','Behavioral abnormality','An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.'),('HP:0000709','Psychosis','A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.'),('HP:0000710','Hyperorality','A tendency or compulsion to examine objects by mouth.'),('HP:0000711','Restlessness','A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.'),('HP:0000712','Emotional lability','Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.'),('HP:0000713','Agitation','A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.'),('HP:0000716','Depressivity','Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.'),('HP:0000717','Autism','Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).'),('HP:0000718','Aggressive behavior','Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.'),('HP:0000719','Inappropriate behavior',''),('HP:0000720','Mood swings','An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.'),('HP:0000721','Lack of spontaneous play',''),('HP:0000722','Obsessive-compulsive behavior','Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).'),('HP:0000723','Restrictive behavior','Behavior characterized by an abnormal limitation to few interests and activities.'),('HP:0000725','Psychotic episodes',''),('HP:0000726','Dementia','A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.'),('HP:0000727','Frontal lobe dementia',''),('HP:0000728','Impaired ability to form peer relationships',''),('HP:0000729','Autistic behavior','Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.'),('HP:0000732','Inflexible adherence to routines or rituals',''),('HP:0000733','Stereotypy','A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.'),('HP:0000734','Disinhibition','A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.'),('HP:0000735','Impaired social interactions','Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.'),('HP:0000736','Short attention span','Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.'),('HP:0000737','Irritability',''),('HP:0000738','Hallucinations','Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.'),('HP:0000739','Anxiety','Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.'),('HP:0000740','Episodic paroxysmal anxiety','Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.'),('HP:0000741','Apathy',''),('HP:0000742','Self-mutilation',''),('HP:0000743','Frontal release signs','Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.'),('HP:0000744','Low frustration tolerance','The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.'),('HP:0000745','Diminished motivation','A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.'),('HP:0000746','Delusions','A belief that is pathological and is held despite evidence to the contrary.'),('HP:0000748','Inappropriate laughter',''),('HP:0000749','Paroxysmal bursts of laughter',''),('HP:0000750','Delayed speech and language development','A degree of language development that is significantly below the norm for a child of a specified age.'),('HP:0000751','Personality changes','An abnormal shift in patterns of thinking, acting, or feeling.'),('HP:0000752','Hyperactivity','Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.'),('HP:0000753','Autism with high cognitive abilities',''),('HP:0000756','Agoraphobia','A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.'),('HP:0000757','Lack of insight',''),('HP:0000758','Impaired use of nonverbal behaviors','Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.'),('HP:0000759','Abnormal peripheral nervous system morphology','A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).'),('HP:0000762','Decreased nerve conduction velocity','A reduction in the speed at which electrical signals propagate along the axon of a neuron.'),('HP:0000763','Sensory neuropathy','Peripheral neuropathy affecting the sensory nerves.'),('HP:0000764','Peripheral axonal degeneration','Progressive deterioration of peripheral axons.'),('HP:0000765','Abnormality of the thorax','Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).'),('HP:0000766','Abnormality of the sternum','An anomaly of the sternum, also known as the breastbone.'),('HP:0000767','Pectus excavatum','A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.'),('HP:0000768','Pectus carinatum','A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.'),('HP:0000769','Abnormality of the breast','An abnormality of the breast.'),('HP:0000771','Gynecomastia','Abnormal development of large mammary glands in males resulting in breast enlargement.'),('HP:0000772','Abnormality of the ribs','An anomaly of the rib.'),('HP:0000773','Short ribs','Reduced rib length.'),('HP:0000774','Narrow chest','Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.'),('HP:0000775','Abnormality of the diaphragm','Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.'),('HP:0000776','Congenital diaphragmatic hernia','The presence of a hernia of the diaphragm present at birth.'),('HP:0000777','Abnormality of the thymus','Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.'),('HP:0000778','Hypoplasia of the thymus','Underdevelopment of the thymus.'),('HP:0000782','Abnormality of the scapula','Any abnormality of the scapula, also known as the shoulder blade.'),('HP:0000786','Primary amenorrhea',''),('HP:0000787','Nephrolithiasis','The presence of calculi (stones) in the kidneys.'),('HP:0000789','Infertility',''),('HP:0000790','Hematuria','The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).'),('HP:0000791','Uric acid nephrolithiasis','The presence of uric acid-containing calculi (stones) in the kidneys.'),('HP:0000793','Membranoproliferative glomerulonephritis','A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity'),('HP:0000794','IgA deposition in the glomerulus','The presence of immunoglobulin A deposits in the glomerulus.'),('HP:0000795','Abnormality of the urethra','An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.'),('HP:0000796','Urethral obstruction','Obstruction of the flow of urine through the urethra.'),('HP:0000798','Oligospermia','Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.'),('HP:0000799','Renal steatosis','Abnormal fat accumulation in the kidneys.'),('HP:0000800','Cystic renal dysplasia',''),('HP:0000802','Impotence','Inability to develop or maintain an erection of the penis.'),('HP:0000803','Renal cortical cysts','Cysts of the cortex of the kidney.'),('HP:0000804','Xanthine nephrolithiasis','The presence of xanthine-containing calculi (stones) in the kidneys.'),('HP:0000805','Enuresis','Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.'),('HP:0000807','Glandular hypospadias',''),('HP:0000808','Penoscrotal hypospadias','A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.'),('HP:0000809','Urinary tract atresia','Congenital absence of the normal opening of a structure of the urinary tract.'),('HP:0000811','Abnormal external genitalia',''),('HP:0000812','Abnormal internal genitalia','An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).'),('HP:0000813','Bicornuate uterus','The presence of a bicornuate uterus.'),('HP:0000815','Hypergonadotropic hypogonadism','Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.'),('HP:0000816','Abnormality of Krebs cycle metabolism','An abnormality of the tricarboxylic acid cycle.'),('HP:0000817','Poor eye contact','Difficulty in looking at another person in the eye.'),('HP:0000818','Abnormality of the endocrine system','An abnormality of the endocrine system.'),('HP:0000819','Diabetes mellitus','A group of abnormalities characterized by hyperglycemia and glucose intolerance.'),('HP:0000820','Abnormality of the thyroid gland','An abnormality of the thyroid gland.'),('HP:0000821','Hypothyroidism','Deficiency of thyroid hormone.'),('HP:0000822','Hypertension','The presence of chronic increased pressure in the systemic arterial system.'),('HP:0000823','Delayed puberty','Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.'),('HP:0000824','Growth hormone deficiency','Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.'),('HP:0000825','Hyperinsulinemic hypoglycemia','An increased concentration of insulin combined with a decreased concentration of glucose in the blood.'),('HP:0000826','Precocious puberty','The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.'),('HP:0000828','Abnormality of the parathyroid gland','An abnormality of the parathyroid gland.'),('HP:0000829','Hypoparathyroidism','A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.'),('HP:0000830','Anterior hypopituitarism','A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.'),('HP:0000831','Insulin-resistant diabetes mellitus','A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.'),('HP:0000832','Primary hypothyroidism','A type of hypothyroidism that results from a defect in the thyroid gland.'),('HP:0000833','obsolete Glucose intolerance',''),('HP:0000834','Abnormality of the adrenal glands','Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.'),('HP:0000835','Adrenal hypoplasia','Developmental hypoplasia of the adrenal glands.'),('HP:0000836','Hyperthyroidism','An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3`,5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).'),('HP:0000837','Increased circulating gonadotropin level','Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.'),('HP:0000839','Pituitary dwarfism','A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.'),('HP:0000840','Adrenogenital syndrome','Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.'),('HP:0000841','Hyperactive renin-angiotensin system','An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.'),('HP:0000842','Hyperinsulinemia','An increased concentration of insulin in the blood.'),('HP:0000843','Hyperparathyroidism','Excessive production of parathyroid hormone (PTH) by the parathyroid glands.'),('HP:0000845','Growth hormone excess','Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.'),('HP:0000846','Adrenal insufficiency','Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.'),('HP:0000847','Abnormality of renin-angiotensin system','An abnormality of the renin-angiotensin system.'),('HP:0000848','Increased circulating renin level','An increased level of renin in the blood.'),('HP:0000849','Adrenocortical abnormality',''),('HP:0000851','Congenital hypothyroidism','A type of hypothyroidism with congenital onset.'),('HP:0000852','Pseudohypoparathyroidism','A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.'),('HP:0000853','Goiter','An enlargement of the thyroid gland.'),('HP:0000854','Thyroid adenoma','The presence of a adenoma of the thyroid gland.'),('HP:0000855','Insulin resistance','Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.'),('HP:0000857','Neonatal insulin-dependent diabetes mellitus',''),('HP:0000858','Irregular menstruation','Abnormally high variation in the amount of time between periods.'),('HP:0000859','Hyperaldosteronism','Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.'),('HP:0000860','Parathyroid hypoplasia','Developmental hypoplasia of the parathyroid gland.'),('HP:0000863','Central diabetes insipidus','A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.'),('HP:0000864','Abnormality of the hypothalamus-pituitary axis','Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.'),('HP:0000866','Euthyroid multinodular goiter',''),('HP:0000867','Secondary hyperparathyroidism','Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.'),('HP:0000868','Decreased fertility in females',''),('HP:0000869','Secondary amenorrhea',''),('HP:0000870','Increased circulating prolactin concentration','The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.'),('HP:0000871','Panhypopituitarism','A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).'),('HP:0000872','Hashimoto thyroiditis','A chronic, autoimmune type of thyroiditis associated with hypothyroidism.'),('HP:0000873','Diabetes insipidus','A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).'),('HP:0000875','Episodic hypertension',''),('HP:0000876','Oligomenorrhea','Infrequent menses (less than 6 per year or more than 35 days between cycles).'),('HP:0000877','Insulin-resistant diabetes mellitus at puberty',''),('HP:0000878','11 pairs of ribs','Presence of only 11 pairs of ribs.'),('HP:0000879','Short sternum','Decreased inferosuperior length of the sternum.'),('HP:0000882','Hypoplastic scapulae','Underdeveloped scapula.'),('HP:0000883','Thin ribs','Ribs with a reduced diameter.'),('HP:0000884','Prominent sternum',''),('HP:0000885','Broad ribs','Increased width of ribs'),('HP:0000886','Deformed rib cage','Malformation of the rib cage.'),('HP:0000887','Cupped ribs','Wide, concave rib end.'),('HP:0000888','Horizontal ribs','A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.'),('HP:0000889','Abnormality of the clavicle','Any abnormality of the clavicles (collar bones).'),('HP:0000890','Long clavicles','Increased length of the clavicles.'),('HP:0000891','Cervical ribs',''),('HP:0000892','Bifid ribs','A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.'),('HP:0000893','Bulging of the costochondral junction','Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.'),('HP:0000894','Short clavicles','Reduced length of the clavicles.'),('HP:0000895','Lateral clavicle hook','An excessive upward convexity of the lateral clavicle.'),('HP:0000896','Rib exostoses','Multiple circumscribed bony excrescences located in the ribs.'),('HP:0000897','Rachitic rosary','A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.'),('HP:0000900','Thickened ribs','Increased thickness (diameter) of ribs.'),('HP:0000902','Rib fusion','Complete or partial merging of adjacent ribs.'),('HP:0000904','Flaring of rib cage','The presence of wide, concave anterior rib ends.'),('HP:0000905','Progressive clavicular acroosteolysis','Progressive bone resorption in the distal part of the clavicle.'),('HP:0000907','Anterior rib cupping','Wide, concave anterior rib end.'),('HP:0000910','Wide-cupped costochondral junctions',''),('HP:0000911','Flat glenoid fossa','Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.'),('HP:0000912','Sprengel anomaly','A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).'),('HP:0000913','Posterior rib fusion','Complete or partial merging of the posterior part of adjacent ribs.'),('HP:0000914','Shield chest','A broad chest.'),('HP:0000915','Pectus excavatum of inferior sternum','Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.'),('HP:0000916','Broad clavicles','Increased width (cross-sectional diameter) of the clavicles.'),('HP:0000917','Superior pectus carinatum','Pectus carinatum affecting primarily the superior part of the sternum.'),('HP:0000918','Scapular exostoses','The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.'),('HP:0000919','Abnormality of the costochondral junction','Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.'),('HP:0000920','Enlargement of the costochondral junction','Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.'),('HP:0000921','Missing ribs','A developmental anomaly with absence of one or more ribs.'),('HP:0000922','Posterior rib cupping','Wide, concave posterior rib end.'),('HP:0000923','Beaded ribs','The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.'),('HP:0000924','Abnormality of the skeletal system','An abnormality of the skeletal system.'),('HP:0000925','Abnormality of the vertebral column','Any abnormality of the vertebral column.'),('HP:0000926','Platyspondyly','A flattened vertebral body shape with reduced distance between the vertebral endplates.'),('HP:0000927','Abnormality of skeletal maturation','The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.'),('HP:0000929','Abnormal skull morphology','An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.'),('HP:0000930','Elevated imprint of the transverse sinuses',''),('HP:0000931','Thinning and bulging of the posterior fossa bones',''),('HP:0000932','Abnormality of the posterior cranial fossa','An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.'),('HP:0000933','Posterior fossa cyst at the fourth ventricle',''),('HP:0000934','Chondrocalcinosis','Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .'),('HP:0000935','Thickened cortex of long bones','Abnormal thickening of the cortex of long bones.'),('HP:0000938','Osteopenia','Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.'),('HP:0000939','Osteoporosis','Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).'),('HP:0000940','Abnormal diaphysis morphology','An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.'),('HP:0000941','Short diaphyses',''),('HP:0000943','Dysostosis multiplex',''),('HP:0000944','Abnormality of the metaphysis','An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.'),('HP:0000946','Hypoplastic ilia','Underdevelopment of the ilium.'),('HP:0000947','Dumbbell-shaped long bone','An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.'),('HP:0000951','Abnormality of the skin','An abnormality of the skin.'),('HP:0000952','Jaundice','Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.'),('HP:0000953','Hyperpigmentation of the skin','A darkening of the skin related to an increase in melanin production and deposition.'),('HP:0000954','Single transverse palmar crease','The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.'),('HP:0000956','Acanthosis nigricans','A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.'),('HP:0000957','Cafe-au-lait spot','Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.'),('HP:0000958','Dry skin','Skin characterized by the lack of natural or normal moisture.'),('HP:0000960','Sacral dimple','A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.'),('HP:0000961','Cyanosis','Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.'),('HP:0000962','Hyperkeratosis','Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.'),('HP:0000963','Thin skin','Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.'),('HP:0000964','Eczema','Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.'),('HP:0000965','Cutis marmorata','A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.'),('HP:0000966','Hypohidrosis','Abnormally diminished capacity to sweat.'),('HP:0000967','Petechiae','Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.'),('HP:0000968','Ectodermal dysplasia','Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.'),('HP:0000969','Edema','An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.'),('HP:0000970','Anhidrosis','Inability to sweat.'),('HP:0000971','Abnormal sweat gland morphology','Any structural abnormality of the sweat gland.'),('HP:0000972','Palmoplantar hyperkeratosis','Hyperkeratosis affecting the palm of the hand and the sole of the foot.'),('HP:0000973','Cutis laxa','Wrinkled, redundant, inelastic and sagging skin.'),('HP:0000974','Hyperextensible skin','A condition in which the skin can be stretched beyond normal, and then returns to its initial position.'),('HP:0000975','Hyperhidrosis','Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.'),('HP:0000976','Eczematoid dermatitis',''),('HP:0000977','Soft skin','Subjective impression of increased softness upon palpitation of the skin.'),('HP:0000978','Bruising susceptibility','An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.'),('HP:0000979','Purpura','Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.'),('HP:0000980','Pallor','Abnormally pale skin.'),('HP:0000982','Palmoplantar keratoderma','Abnormal thickening of the skin of the palms of the hands and the soles of the feet.'),('HP:0000987','Atypical scarring of skin','Atypically scarred skin .'),('HP:0000988','Skin rash','A red eruption of the skin.'),('HP:0000989','Pruritus','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.'),('HP:0000991','Xanthomatosis','The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.'),('HP:0000992','Cutaneous photosensitivity','An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.'),('HP:0000993','Molluscoid pseudotumors','Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.'),('HP:0000995','Melanocytic nevus','A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.'),('HP:0000996','Facial capillary hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.'),('HP:0000997','Axillary freckling','The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.'),('HP:0000998','Hypertrichosis','Hypertrichosis is increased hair growth that is abnormal in quantity or location.'),('HP:0000999','Pyoderma','Any manifestation of a skin disease associated with the production of pus.'),('HP:0001000','Abnormality of skin pigmentation','An abnormality of the pigmentation of the skin.'),('HP:0001001','Abnormality of subcutaneous fat tissue',''),('HP:0001002','obsolete Decreased subcutaneous fat',''),('HP:0001003','Multiple lentigines','Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.'),('HP:0001004','Lymphedema','Localized fluid retention and tissue swelling caused by a compromised lymphatic system.'),('HP:0001005','Dermatological manifestations of systemic disorders',''),('HP:0001006','obsolete Hypotrichosis',''),('HP:0001007','Hirsutism','Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).'),('HP:0001008','Accumulation of melanosomes in melanocytes',''),('HP:0001009','Telangiectasia','Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.'),('HP:0001010','Hypopigmentation of the skin','A reduction of skin color related to a decrease in melanin production and deposition.'),('HP:0001011','obsolete Diaphoresis (with pheochromocytoma)',''),('HP:0001012','Multiple lipomas','The presence of multiple lipomas (a type of benign tissue made of fatty tissue).'),('HP:0001013','Eruptive xanthomas','Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.'),('HP:0001014','Angiokeratoma','A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.'),('HP:0001015','Prominent superficial veins','A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.'),('HP:0001017','Anemic pallor','A type of pallor that is secondary to the presence of anemia.'),('HP:0001018','Abnormal palmar dermatoglyphics','An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.'),('HP:0001019','Erythroderma','An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.'),('HP:0001022','Albinism','An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).'),('HP:0001024','Skin dimple over apex of long bone angulation',''),('HP:0001025','Urticaria','Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.'),('HP:0001026','Penetrating foot ulcers',''),('HP:0001027','Soft, doughy skin','A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.'),('HP:0001028','Hemangioma','A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).'),('HP:0001029','Poikiloderma','Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.'),('HP:0001030','Fragile skin','Skin that splits easily with minimal injury.'),('HP:0001031','Subcutaneous lipoma','The presence of subcutaneous lipoma.'),('HP:0001032','Absent distal interphalangeal creases','Absence of the distal interphalangeal flexion creases of the fingers.'),('HP:0001033','Facial flushing after alcohol intake',''),('HP:0001034','Hypermelanotic macule','A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.'),('HP:0001036','Parakeratosis','Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.'),('HP:0001038','Warfarin-induced skin necrosis',''),('HP:0001039','Atheroeruptive xanthoma',''),('HP:0001040','Multiple pterygia',''),('HP:0001041','Facial erythema','Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0001042','High axial triradius',''),('HP:0001043','Prominent scalp veins',''),('HP:0001045','Vitiligo',''),('HP:0001046','Intermittent jaundice','Jaundice that is sometimes present, sometimes not.'),('HP:0001047','Atopic dermatitis','Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.'),('HP:0001048','Cavernous hemangioma','The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.'),('HP:0001049','Absent dorsal skin creases over affected joints',''),('HP:0001050','Plethora',''),('HP:0001051','Seborrheic dermatitis','Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.'),('HP:0001052','Nevus flammeus','A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.'),('HP:0001053','Hypopigmented skin patches',''),('HP:0001054','Numerous nevi',''),('HP:0001055','Erysipelas','Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.'),('HP:0001056','Milia','Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.'),('HP:0001057','Aplasia cutis congenita','A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.'),('HP:0001058','Poor wound healing','A reduced ability to heal cutaneous wounds.'),('HP:0001059','Pterygium','Pterygia are `winglike` triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.'),('HP:0001060','Axillary pterygium','Presence of a cutaneous membrane (flap) in the armpit.'),('HP:0001061','Acne','A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).'),('HP:0001062','Atypical nevus','A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.'),('HP:0001063','Acrocyanosis',''),('HP:0001065','Striae distensae','Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.'),('HP:0001067','Neurofibromas','The presence of multiple cutaneous neurofibromas.'),('HP:0001069','Episodic hyperhidrosis','Intermittent episodes of abnormally increased perspiration.'),('HP:0001070','Mottled pigmentation','Patchy and irregular skin pigmentation.'),('HP:0001071','Angiokeratoma corporis diffusum',''),('HP:0001072','Thickened skin','Laminar thickening of skin.'),('HP:0001073','Cigarette-paper scars','Thin (atrophic) and wide scars.'),('HP:0001074','Atypical nevi in non-sun exposed areas',''),('HP:0001075','Atrophic scars','Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.'),('HP:0001076','Glabellar hemangioma',''),('HP:0001080','Biliary tract abnormality','An abnormality of the biliary tree.'),('HP:0001081','Cholelithiasis','Hard, pebble-like deposits that form within the gallbladder.'),('HP:0001082','Cholecystitis','The presence of inflammatory changes in the gallbladder.'),('HP:0001083','Ectopia lentis','Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.'),('HP:0001084','Corneal arcus','A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.'),('HP:0001085','Papilledema','Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.'),('HP:0001087','Developmental glaucoma','Glaucoma which forms during the early years of a child`s life is called developmental or congenital glaucoma.'),('HP:0001088','Brushfield spots','The presence of whitish spots in a ring-like arrangement at the periphery of the iris.'),('HP:0001089','Iris atrophy','Loss of iris tissue (atrophy)'),('HP:0001090','Abnormally large globe','Diffusely large eye (with megalocornea) without glaucoma.'),('HP:0001092','Absent lacrimal punctum','No identifiable superior and/or inferior lacrimal punctum.'),('HP:0001093','Optic nerve dysplasia','The presence of developmental dysplasia of the optic nerve.'),('HP:0001094','Iridocyclitis','A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.'),('HP:0001095','Hypertensive retinopathy',''),('HP:0001096','Keratoconjunctivitis','Inflammation of the cornea and conjunctiva.'),('HP:0001097','Keratoconjunctivitis sicca','Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.'),('HP:0001098','Abnormal fundus morphology','Any structural abnormality of the fundus of the eye.'),('HP:0001099','Fundus atrophy',''),('HP:0001100','Heterochromia iridis','Heterochromia iridis is a difference in the color of the iris in the two eyes.'),('HP:0001101','Iritis','Inflammation of the iris.'),('HP:0001102','Angioid streaks of the fundus','Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch`s membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.'),('HP:0001103','Abnormal macular morphology','A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.'),('HP:0001104','Macular hypoplasia','Underdevelopment of the macula lutea.'),('HP:0001105','Retinal atrophy','Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.'),('HP:0001106','Periorbital hyperpigmentation','Increased pigmentation of the skin in the region surrounding the orbit of the eye.'),('HP:0001107','Ocular albinism','An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.'),('HP:0001112','Leber optic atrophy','Degeneration of retinal ganglion cells and their axons.'),('HP:0001113','obsolete Early cataracts',''),('HP:0001114','Xanthelasma','The presence of xanthomata in the skin of the eyelid.'),('HP:0001115','Posterior polar cataract','A polar cataract that affects the posterior pole of the lens.'),('HP:0001116','Macular coloboma','A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.'),('HP:0001117','Sudden loss of visual acuity','Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.'),('HP:0001118','Juvenile cataract','A type of cataract that is not apparent at birth but that arises in childhood or adolescence.'),('HP:0001119','Keratoglobus','Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.'),('HP:0001120','Abnormality of corneal size','Any abnormality of the size or morphology of the cornea.'),('HP:0001122','obsolete Aplasia/Hypoplasia of the choroid',''),('HP:0001123','Visual field defect',''),('HP:0001125','Transient unilateral blurring of vision','Transient blurring of vision associated with the aura phase of migraine.'),('HP:0001126','Cryptophthalmos','Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.'),('HP:0001128','Trichiasis','Inversion and rubbing of the eyelashes against the globe of the eye.'),('HP:0001129','Large central visual field defect',''),('HP:0001131','Corneal dystrophy','An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.'),('HP:0001132','Lens subluxation','Partial dislocation of the lens of the eye.'),('HP:0001133','Constriction of peripheral visual field','An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.'),('HP:0001134','Anterior polar cataract','A polar cataract that affects the anterior pole of the lens.'),('HP:0001135','Chorioretinal dystrophy',''),('HP:0001136','Retinal arteriolar tortuosity','The presence of an increased number of twists and turns of the retinal arterioles.'),('HP:0001137','Alternating esotropia','Esotropia in which either eye may be used for fixation.'),('HP:0001138','Optic neuropathy',''),('HP:0001139','Choroideremia',''),('HP:0001140','Limbal dermoid','A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).'),('HP:0001141','Severely reduced visual acuity','Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).'),('HP:0001142','Lenticonus','A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.'),('HP:0001144','Orbital cyst','Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).'),('HP:0001145','obsolete Chorioretinopathy',''),('HP:0001146','obsolete Pigmentary retinal degeneration',''),('HP:0001147','Retinal exudate','Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.'),('HP:0001149','Lattice corneal dystrophy','The presence of fine, branching linear opacities in Bowman`s layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet`s membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.'),('HP:0001150','obsolete Choroidal sclerosis',''),('HP:0001151','Impaired horizontal smooth pursuit','An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.'),('HP:0001152','Saccadic smooth pursuit','An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.'),('HP:0001153','Septate vagina','The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.'),('HP:0001155','Abnormality of the hand','An abnormality affecting one or both hands.'),('HP:0001156','Brachydactyly','Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.'),('HP:0001159','Syndactyly','Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".'),('HP:0001161','Hand polydactyly','A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.'),('HP:0001162','Postaxial hand polydactyly','Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).'),('HP:0001163','Abnormality of the metacarpal bones','An abnormality of the metacarpal bones.'),('HP:0001166','Arachnodactyly','Abnormally long and slender fingers (\"spider fingers\").'),('HP:0001167','Abnormality of finger','An anomaly of a finger.'),('HP:0001169','Broad palm','For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.'),('HP:0001171','Split hand','A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.'),('HP:0001172','Abnormal thumb morphology','An abnormal structure of the first digit of the hand.'),('HP:0001176','Large hands',''),('HP:0001177','Preaxial hand polydactyly','Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.'),('HP:0001178','Ulnar claw','An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.'),('HP:0001180','Hand oligodactyly','A developmental defect resulting in the presence of fewer than the normal number of fingers.'),('HP:0001181','Adducted thumb','In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.'),('HP:0001182','Tapered finger','The gradual reduction in girth of the finger from proximal to distal.'),('HP:0001187','Hyperextensibility of the finger joints','The ability of the finger joints to move beyond their normal range of motion.'),('HP:0001188','Hand clenching','An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.'),('HP:0001191','Abnormality of the carpal bones','An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).'),('HP:0001193','Ulnar deviation of the hand or of fingers of the hand',''),('HP:0001194','Abnormalities of placenta or umbilical cord','An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).'),('HP:0001195','Single umbilical artery','Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.'),('HP:0001196','Short umbilical cord','Decreased length of the umbilical cord.'),('HP:0001197','Abnormality of prenatal development or birth','An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.'),('HP:0001199','Triphalangeal thumb','A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.'),('HP:0001204','Distal symphalangism of hands','The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.'),('HP:0001211','Abnormal fingertip morphology','An abnormal structure of the tip (end) of a finger.'),('HP:0001212','Prominent fingertip pads','A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.'),('HP:0001215','Camptodactyly of 2nd-5th fingers','The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.'),('HP:0001216','Delayed ossification of carpal bones','Ossification of carpal bones occurs later than age-adjusted norms.'),('HP:0001217','Clubbing','Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.'),('HP:0001218','Autoamputation','Spontaneous detachment (amputation) of an appendage from the body.'),('HP:0001220','Interphalangeal joint contracture of finger','Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.'),('HP:0001222','Spatulate thumbs','Spoon-shaped, broad thumbs.'),('HP:0001223','Pointed proximal second through fifth metacarpals','All of the metacarpal bones of the hand have a pointed proximal appearance.'),('HP:0001225','Wrist swelling',''),('HP:0001226','obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits',''),('HP:0001227','Abnormality of the thenar eminence','An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.'),('HP:0001230','Broad metacarpals','Abnormally broad metacarpal bones.'),('HP:0001231','Abnormal fingernail morphology','An abnormality of the fingernails.'),('HP:0001232','Nail bed telangiectasia','Telangiectases in the area of the nails.'),('HP:0001233','2-3 finger syndactyly','Syndactyly with fusion of fingers two and three.'),('HP:0001234','Hitchhiker thumb','With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.'),('HP:0001238','Slender finger','Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.'),('HP:0001239','Wrist flexion contracture','A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.'),('HP:0001241','Capitate-hamate fusion',''),('HP:0001245','Small thenar eminence','Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.'),('HP:0001248','Short tubular bones of the hand','Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.'),('HP:0001249','Intellectual disability','Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.'),('HP:0001250','Seizure','A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.'),('HP:0001251','Ataxia','Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).'),('HP:0001252','Muscular hypotonia','Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.'),('HP:0001254','Lethargy','A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.'),('HP:0001256','Intellectual disability, mild','Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.'),('HP:0001257','Spasticity','A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.'),('HP:0001258','Spastic paraplegia','Spasticity and weakness of the leg and hip muscles.'),('HP:0001259','Coma','Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.'),('HP:0001260','Dysarthria','Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.'),('HP:0001262','Excessive daytime somnolence','A state of abnormally strong desire for sleep during the daytime.'),('HP:0001263','Global developmental delay','A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.'),('HP:0001264','Spastic diplegia','Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.'),('HP:0001265','Hyporeflexia','Reduction of neurologic reflexes such as the knee-jerk reaction.'),('HP:0001266','Choreoathetosis','Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).'),('HP:0001268','Mental deterioration','Loss of previously present mental abilities, generally in adults.'),('HP:0001269','Hemiparesis','Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.'),('HP:0001270','Motor delay','A type of Developmental delay characterized by a delay in acquiring motor skills.'),('HP:0001271','Polyneuropathy','A generalized disorder of peripheral nerves.'),('HP:0001272','Cerebellar atrophy','Atrophy (wasting) of the cerebellum.'),('HP:0001273','Abnormal corpus callosum morphology','Abnormality of the corpus callosum.'),('HP:0001274','Agenesis of corpus callosum','Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.'),('HP:0001276','Hypertonia','A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.'),('HP:0001278','Orthostatic hypotension','A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.'),('HP:0001279','Syncope','Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.'),('HP:0001281','Tetany','A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.'),('HP:0001283','Bulbar palsy','Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.'),('HP:0001284','Areflexia','Absence of neurologic reflexes such as the knee-jerk reaction.'),('HP:0001285','Spastic tetraparesis','Spastic weakness affecting all four limbs.'),('HP:0001287','Meningitis','Inflammation of the meninges.'),('HP:0001288','Gait disturbance','The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.'),('HP:0001289','Confusion','Lack of clarity and coherence of thought, perception, understanding, or action.'),('HP:0001290','Generalized hypotonia','Generalized muscular hypotonia (abnormally low muscle tone).'),('HP:0001291','Abnormal cranial nerve morphology','Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.'),('HP:0001293','Cranial nerve compression',''),('HP:0001297','Stroke','Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.'),('HP:0001298','Encephalopathy','Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.'),('HP:0001300','Parkinsonism','Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.'),('HP:0001301','Chronic sensorineural polyneuropathy',''),('HP:0001302','Pachygyria','Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.'),('HP:0001304','Torsion dystonia','Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.'),('HP:0001305','Dandy-Walker malformation','A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman`s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.'),('HP:0001308','Tongue fasciculations','Fasciculations or fibrillation affecting the tongue muscle.'),('HP:0001310','Dysmetria','A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.'),('HP:0001311','Abnormal nervous system electrophysiology','An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.'),('HP:0001312','Giant somatosensory evoked potentials','An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.'),('HP:0001315','Reduced tendon reflexes','Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.'),('HP:0001317','Abnormal cerebellum morphology','Any structural abnormality of the cerebellum.'),('HP:0001319','Neonatal hypotonia','Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.'),('HP:0001320','Cerebellar vermis hypoplasia','Underdevelopment of the vermis of cerebellum.'),('HP:0001321','Cerebellar hypoplasia','Underdevelopment of the cerebellum.'),('HP:0001322','obsolete Brain very small',''),('HP:0001324','Muscle weakness','Reduced strength of muscles.'),('HP:0001325','Hypoglycemic coma',''),('HP:0001326','EEG with irregular generalized spike and wave complexes','EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.'),('HP:0001327','Photosensitive myoclonic seizure','Generalised myoclonic seizure provoked by flashing or flickering light.'),('HP:0001328','Specific learning disability','Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.'),('HP:0001331','Absent septum pellucidum','Absence of the septum pellucidum.'),('HP:0001332','Dystonia','An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.'),('HP:0001334','Communicating hydrocephalus','A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.'),('HP:0001335','Bimanual synkinesia','Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.'),('HP:0001336','Myoclonus','Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.'),('HP:0001337','Tremor','An unintentional, oscillating to-and-fro muscle movement about a joint axis.'),('HP:0001338','Partial agenesis of the corpus callosum','A partial failure of the development of the corpus callosum.'),('HP:0001339','Lissencephaly','A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.'),('HP:0001340','Enhancement of the C-reflex','Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.'),('HP:0001341','Olfactory lobe agenesis',''),('HP:0001342','Cerebral hemorrhage','Hemorrhage into the parenchyma of the brain.'),('HP:0001343','Kernicterus','Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.'),('HP:0001344','Absent speech','Complete lack of development of speech and language abilities.'),('HP:0001345','Psychotic mentation',''),('HP:0001347','Hyperreflexia','Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.'),('HP:0001348','Brisk reflexes','Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.'),('HP:0001349','Facial diplegia','Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).'),('HP:0001350','Slurred speech','Abnormal coordination of muscles involved in speech.'),('HP:0001351','Jerk-locked premyoclonus spikes','Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.'),('HP:0001355','Megalencephaly','Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).'),('HP:0001357','Plagiocephaly','Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.'),('HP:0001360','Holoprosencephaly','Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.'),('HP:0001361','Nystagmus-induced head nodding','Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.'),('HP:0001362','Calvarial skull defect','A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.'),('HP:0001363','Craniosynostosis','Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.'),('HP:0001367','Abnormal joint morphology','An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.'),('HP:0001369','Arthritis','Inflammation of a joint.'),('HP:0001370','Rheumatoid arthritis','Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.'),('HP:0001371','Flexion contracture','A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.'),('HP:0001373','Joint dislocation','Displacement or malalignment of joints.'),('HP:0001374','Congenital hip dislocation',''),('HP:0001376','Limitation of joint mobility','A reduction in the freedom of movement of one or more joints.'),('HP:0001377','Limited elbow extension','Limited ability to straighten the arm at the elbow joint.'),('HP:0001379','obsolete Degenerative joint disease',''),('HP:0001380','obsolete Ligamentous laxity',''),('HP:0001382','Joint hypermobility','The ability of a joint to move beyond its normal range of motion.'),('HP:0001384','Abnormality of the hip joint','An abnormality of the hip joint.'),('HP:0001385','Hip dysplasia','The presence of developmental dysplasia of the hip.'),('HP:0001386','Joint swelling',''),('HP:0001387','Joint stiffness','Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.'),('HP:0001388','Joint laxity','Lack of stability of a joint.'),('HP:0001392','Abnormality of the liver','An abnormality of the liver.'),('HP:0001394','Cirrhosis','A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.'),('HP:0001395','Hepatic fibrosis','The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.'),('HP:0001396','Cholestasis','Impairment of bile flow due to obstruction in bile ducts.'),('HP:0001397','Hepatic steatosis','The presence of steatosis in the liver.'),('HP:0001399','Hepatic failure',''),('HP:0001400','obsolete Hepatic abscesses due to immunodeficiency',''),('HP:0001401','Intrahepatic biliary dysgenesis',''),('HP:0001402','Hepatocellular carcinoma','A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.'),('HP:0001403','Macrovesicular hepatic steatosis','A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.'),('HP:0001404','Hepatocellular necrosis',''),('HP:0001405','Periportal fibrosis','The presence of fibrosis affecting the interlobular stroma of liver.'),('HP:0001406','Intrahepatic cholestasis','Impairment of bile flow due to obstruction in the small bile ducts within the liver.'),('HP:0001407','Hepatic cysts',''),('HP:0001408','Bile duct proliferation','Proliferative changes of the bile ducts.'),('HP:0001409','Portal hypertension','Increased pressure in the portal vein.'),('HP:0001410','Decreased liver function','Reduced ability of the liver to perform its functions.'),('HP:0001412','Enteroviral hepatitis','Inflammation of the liver due to infection with enterovirus.'),('HP:0001413','Micronodular cirrhosis','A type of cirrhosis characterized by the presence of small regenerative nodules.'),('HP:0001414','Microvesicular hepatic steatosis','A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.'),('HP:0001417','X-linked inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.'),('HP:0001419','X-linked recessive inheritance','A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.'),('HP:0001421','Abnormality of the musculature of the hand',''),('HP:0001423','X-linked dominant inheritance','A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.'),('HP:0001425','Heterogeneous',''),('HP:0001426','Multifactorial inheritance','A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.'),('HP:0001427','Mitochondrial inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).'),('HP:0001428','Somatic mutation','A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.'),('HP:0001430','Abnormality of the calf musculature',''),('HP:0001433','Hepatosplenomegaly','Simultaneous enlargement of the liver and spleen.'),('HP:0001435','Abnormality of the shoulder girdle musculature',''),('HP:0001436','Abnormality of the foot musculature','An anomaly of the musculature of foot.'),('HP:0001437','Abnormality of the musculature of the lower limbs',''),('HP:0001438','Abnormality of abdomen morphology','A structural abnormality of the abdomen (`belly`), that is, the part of the body between the pelvis and the thorax.'),('HP:0001440','Metatarsal synostosis',''),('HP:0001441','Abnormality of the musculature of the thigh',''),('HP:0001442','Somatic mosaicism','The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.'),('HP:0001443','Abnormality of the gluteal musculature',''),('HP:0001444','Autosomal dominant somatic cell mutation','Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.'),('HP:0001445','Abnormality of the hip-girdle musculature',''),('HP:0001446','Abnormality of the musculature of the upper limbs',''),('HP:0001449','Duplication of metatarsal bones',''),('HP:0001450','Y-linked inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.'),('HP:0001452','Autosomal dominant contiguous gene syndrome',''),('HP:0001454','Abnormality of the upper arm',''),('HP:0001457','Abnormality of the musculature of the upper arm',''),('HP:0001459','1-3 toe syndactyly','Syndactyly with fusion of toes one to three.'),('HP:0001460','Aplasia/Hypoplasia involving the skeletal musculature','Absence or underdevelopment of the musculature.'),('HP:0001464','Aplasia/Hypoplasia involving the shoulder musculature','Absence or underdevelopment of the muscles of the shoulder.'),('HP:0001465','Amyotrophy involving the shoulder musculature',''),('HP:0001466','Contiguous gene syndrome',''),('HP:0001467','Aplasia/Hypoplasia involving the musculature of the upper limbs','Absence or underdevelopment of the musculature of the upper limbs.'),('HP:0001468','Aplasia/Hypoplasia involving the musculature of the upper arm','Absence or underdevelopment of the muscles of the upper arm.'),('HP:0001469','Abnormal morphology of the pelvis musculature',''),('HP:0001470','Sex-limited autosomal dominant',''),('HP:0001471','Aplasia/Hypoplasia of the musculature of the pelvis',''),('HP:0001472','obsolete Familial predisposition',''),('HP:0001473','Metatarsal osteolysis','Osteolysis involving metatarsal bones.'),('HP:0001474','Sclerotic scapulae','Increased density of the bony tissue of the scapula.'),('HP:0001475','Male-limited autosomal dominant',''),('HP:0001476','Delayed closure of the anterior fontanelle','A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.'),('HP:0001477','Compensatory chin elevation','A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.'),('HP:0001480','Freckling','The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.'),('HP:0001482','Subcutaneous nodule','Slightly elevated lesions on or in the skin with a diameter of over 5 mm.'),('HP:0001483','Eye poking','Repetitive pressing, poking, and/or rubbing in the eyes.'),('HP:0001487','obsolete Hypopigmented fundi',''),('HP:0001488','Bilateral ptosis',''),('HP:0001489','Posterior vitreous detachment','Separation of the vitreous humor from the retina.'),('HP:0001491','Congenital fibrosis of extraocular muscles','Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.'),('HP:0001492','Axenfeld anomaly','Axenfeld`s anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe`s line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe`s line.'),('HP:0001493','Falciform retinal fold','An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.'),('HP:0001495','Carpal osteolysis','Osteolysis affecting carpal bones.'),('HP:0001498','Carpal bone hypoplasia','Underdevelopment of one or more carpal bones.'),('HP:0001500','Broad finger','Increased width of a non-thumb digit of the hand.'),('HP:0001501','6 metacarpals',''),('HP:0001504','Metacarpal osteolysis',''),('HP:0001507','Growth abnormality',''),('HP:0001508','Failure to thrive','Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.'),('HP:0001510','Growth delay','A deficiency or slowing down of growth pre- and postnatally.'),('HP:0001511','Intrauterine growth retardation','An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.'),('HP:0001513','Obesity','Accumulation of substantial excess body fat.'),('HP:0001518','Small for gestational age','Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.'),('HP:0001519','Disproportionate tall stature','A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.'),('HP:0001520','Large for gestational age','The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.'),('HP:0001522','Death in infancy','Death within the first 24 months of life.'),('HP:0001525','Severe failure to thrive',''),('HP:0001528','Hemihypertrophy','Overgrowth of only one side of the body.'),('HP:0001530','Mild postnatal growth retardation','A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.'),('HP:0001531','Failure to thrive in infancy',''),('HP:0001533','Slender build','Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.'),('HP:0001537','Umbilical hernia','Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'),('HP:0001538','Protuberant abdomen','A thrusting or bulging out of the abdomen.'),('HP:0001539','Omphalocele','A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.'),('HP:0001540','Diastasis recti','A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).'),('HP:0001541','Ascites','Accumulation of fluid in the peritoneal cavity.'),('HP:0001543','Gastroschisis','A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.'),('HP:0001544','Prominent umbilicus','Abnormally prominent umbilicus (belly button).'),('HP:0001545','Anteriorly placed anus','Anterior malposition of the anus.'),('HP:0001547','Abnormality of the rib cage','A morphological anomaly of the rib cage.'),('HP:0001548','Overgrowth','Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.'),('HP:0001549','Abnormal ileum morphology',''),('HP:0001551','Abnormal umbilicus morphology','An abnormality of the structure or appearance of the umbilicus.'),('HP:0001552','Barrel-shaped chest','A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.'),('HP:0001555','Asymmetry of the thorax','Lack of symmetry between the left and right halves of the thorax.'),('HP:0001557','Prenatal movement abnormality','An abnormality of fetal movement.'),('HP:0001558','Decreased fetal movement','An abnormal reduction in quantity or strength of fetal movements.'),('HP:0001560','Abnormality of the amniotic fluid','Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.'),('HP:0001561','Polyhydramnios','The presence of excess amniotic fluid in the uterus during pregnancy.'),('HP:0001562','Oligohydramnios','Diminished amniotic fluid volume in pregnancy.'),('HP:0001563','Fetal polyuria','Abnormally increased production of urine by the fetus resulting in polyhydramnios.'),('HP:0001566','Widely-spaced maxillary central incisors','Increased distance between the maxillary central permanent incisor tooth.'),('HP:0001571','Multiple impacted teeth','The presence of multiple impacted teeth.'),('HP:0001572','Macrodontia','Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.'),('HP:0001574','Abnormality of the integument','An abnormality of the integument, which consists of the skin and the superficial fascia.'),('HP:0001575','Mood changes',''),('HP:0001578','Hypercortisolism','Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.'),('HP:0001579','Primary hypercortisolism','Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.'),('HP:0001580','Pigmented micronodular adrenocortical disease',''),('HP:0001581','Recurrent skin infections','Infections of the skin that happen multiple times.'),('HP:0001582','Redundant skin','Loose and sagging skin often associated with loss of skin elasticity.'),('HP:0001583','Rotary nystagmus','A form of nystagmus in which the eyeball makes rotary motions around the axis.'),('HP:0001586','Vesicovaginal fistula','The presence of a fistula connecting the urinary bladder to the vagina.'),('HP:0001587','obsolete Primary ovarian failure',''),('HP:0001591','Bell-shaped thorax','The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.'),('HP:0001592','Selective tooth agenesis','Agenesis specifically affecting one of the classes incisor, premolar, or molar.'),('HP:0001593','Maxillary lateral incisor microdontia','Decreased size of the maxillary permanent incisor.'),('HP:0001595','Abnormal hair morphology','An abnormality of the hair.'),('HP:0001596','Alopecia','A noncongenital process of hair loss, which may progress to partial or complete baldness.'),('HP:0001597','Abnormality of the nail','Abnormality of the nail.'),('HP:0001598','Concave nail','The natural longitudinal (posterodistal) convex arch is not present or is inverted.'),('HP:0001600','Abnormality of the larynx','An abnormality of the larynx.'),('HP:0001601','Laryngomalacia','Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.'),('HP:0001602','Laryngeal stenosis','Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.'),('HP:0001604','Vocal cord paresis','Decreased strength of the vocal folds.'),('HP:0001605','Vocal cord paralysis','A loss of the ability to move the vocal folds.'),('HP:0001606','obsolete Vocal cord paralysis (caused by tumor impingement)',''),('HP:0001607','Subglottic stenosis',''),('HP:0001608','Abnormality of the voice',''),('HP:0001609','Hoarse voice','Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.'),('HP:0001611','Nasal speech','A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.'),('HP:0001612','Weak cry',''),('HP:0001613','obsolete Hoarse voice (caused by tumor impingement)',''),('HP:0001615','Hoarse cry',''),('HP:0001618','Dysphonia','An impairment in the ability to produce voice sounds.'),('HP:0001620','High pitched voice','An abnormal increase in the pitch (frequency) of the voice.'),('HP:0001621','Weak voice','Reduced intensity (volume) of speech.'),('HP:0001622','Premature birth','The birth of a baby of less than 37 weeks of gestational age.'),('HP:0001623','Breech presentation','A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.'),('HP:0001626','Abnormality of the cardiovascular system','Any abnormality of the cardiovascular system.'),('HP:0001627','Abnormal heart morphology','Any structural anomaly of the heart.'),('HP:0001629','Ventricular septal defect','A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.'),('HP:0001631','Atrial septal defect','Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.'),('HP:0001633','Abnormal mitral valve morphology','Any structural anomaly of the mitral valve.'),('HP:0001634','Mitral valve prolapse','One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.'),('HP:0001635','Congestive heart failure','The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.'),('HP:0001636','Tetralogy of Fallot','A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.'),('HP:0001637','Abnormal myocardium morphology','A structural anomaly of the muscle layer of the heart wall.'),('HP:0001638','Cardiomyopathy','A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.'),('HP:0001639','Hypertrophic cardiomyopathy','Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.'),('HP:0001640','Cardiomegaly','Increased size of the heart.'),('HP:0001641','Abnormal pulmonary valve morphology','Any structural abnormality of the pulmonary valve.'),('HP:0001642','Pulmonic stenosis','A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).'),('HP:0001643','Patent ductus arteriosus','In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.'),('HP:0001644','Dilated cardiomyopathy','Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.'),('HP:0001645','Sudden cardiac death','The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).'),('HP:0001646','Abnormal aortic valve morphology','Any abnormality of the aortic valve.'),('HP:0001647','Bicuspid aortic valve','The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).'),('HP:0001648','Cor pulmonale','Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.'),('HP:0001649','Tachycardia','A rapid heartrate that exceeds the range of the normal resting heartrate for age.'),('HP:0001650','Aortic valve stenosis','The presence of a stenosis (narrowing) of the aortic valve.'),('HP:0001651','Dextrocardia','The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.'),('HP:0001653','Mitral regurgitation','An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.'),('HP:0001654','Abnormal heart valve morphology','Any structural abnormality of a cardiac valve.'),('HP:0001655','Patent foramen ovale','Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.'),('HP:0001657','Prolonged QT interval','Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).'),('HP:0001658','Myocardial infarction','Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.'),('HP:0001659','Aortic regurgitation','An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.'),('HP:0001660','Truncus arteriosus','A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.'),('HP:0001662','Bradycardia','A slower than normal heart rate (in adults, slower than 60 beats per minute).'),('HP:0001663','Ventricular fibrillation','Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.'),('HP:0001664','Torsade de pointes','A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.'),('HP:0001667','Right ventricular hypertrophy','In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.'),('HP:0001669','Transposition of the great arteries','A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.'),('HP:0001670','Asymmetric septal hypertrophy','Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.'),('HP:0001671','Abnormal cardiac septum morphology','An anomaly of the intra-atrial or intraventricular septum.'),('HP:0001673','obsolete Tachycardia (with pheochromocytoma)',''),('HP:0001674','Complete atrioventricular canal defect','A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.'),('HP:0001675','obsolete Rhythm disturbances associated with pheochromocytoma',''),('HP:0001676','obsolete Palpitations (with pheochromocytoma)',''),('HP:0001677','Coronary artery atherosclerosis','Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.'),('HP:0001678','Atrioventricular block','Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.'),('HP:0001679','Abnormal aortic morphology','An abnormality of the aorta.'),('HP:0001680','Coarctation of aorta','Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.'),('HP:0001681','Angina pectoris','Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.'),('HP:0001682','Subvalvular aortic stenosis','A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.'),('HP:0001683','Ectopia cordis','Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.'),('HP:0001684','Secundum atrial septal defect','A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.'),('HP:0001685','Myocardial fibrosis','Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.'),('HP:0001686','Loss of voice',''),('HP:0001688','Sinus bradycardia','Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.'),('HP:0001691','Muscular subvalvular aortic stenosis','A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.'),('HP:0001692','Atrial arrhythmia','A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.'),('HP:0001693','Cardiac shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.'),('HP:0001694','Right-to-left shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.'),('HP:0001695','Cardiac arrest','An abrupt loss of heart function.'),('HP:0001696','Situs inversus totalis','A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs.'),('HP:0001697','Abnormal pericardium morphology','An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.'),('HP:0001698','Pericardial effusion','Accumulation of fluid within the pericardium.'),('HP:0001699','Sudden death','Rapid and unexpected death.'),('HP:0001700','Myocardial necrosis','Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).'),('HP:0001701','Pericarditis','Inflammation of the sac-like covering around the heart (pericardium).'),('HP:0001702','Abnormal tricuspid valve morphology','Any structural anomaly of the tricuspid valve.'),('HP:0001704','Tricuspid valve prolapse','One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.'),('HP:0001705','Right ventricular outlet tract obstruction','An obstruction to the forward flow of blood in the outflow tract of the right ventricle.'),('HP:0001706','Endocardial fibroelastosis','Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction'),('HP:0001707','Abnormal right ventricle morphology','An abnormality of the right ventricle of the heart.'),('HP:0001708','Right ventricular failure','Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.'),('HP:0001709','Third degree atrioventricular block','Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.'),('HP:0001710','Conotruncal defect','A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.'),('HP:0001711','Abnormal left ventricle morphology','Any structural abnormality of the left ventricle of the heart.'),('HP:0001712','Left ventricular hypertrophy','Enlargement or increased size of the heart left ventricle.'),('HP:0001713','Abnormal cardiac ventricle morphology','An abnormality of a cardiac ventricle.'),('HP:0001714','Ventricular hypertrophy','Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.'),('HP:0001716','Wolff-Parkinson-White syndrome','A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.'),('HP:0001717','Coronary artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.'),('HP:0001718','Mitral stenosis','An abnormal narrowing of the orifice of the mitral valve.'),('HP:0001719','Double outlet right ventricle','Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.'),('HP:0001722','High-output congestive heart failure','A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.'),('HP:0001723','Restrictive cardiomyopathy','Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.'),('HP:0001724','obsolete Aortic dilatation',''),('HP:0001726','obsolete Increased prevalence of valvular disease',''),('HP:0001727','Thromboembolic stroke','A cerebrovascular accident (stroke) that occurs because of thromboembolism.'),('HP:0001730','Progressive hearing impairment','A progressive form of hearing impairment.'),('HP:0001732','Abnormality of the pancreas','An abnormality of the pancreas.'),('HP:0001733','Pancreatitis','The presence of inflammation in the pancreas.'),('HP:0001734','Annular pancreas','A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.'),('HP:0001735','Acute pancreatitis','A acute form of pancreatitis.'),('HP:0001737','Pancreatic cysts','A cyst of the pancreas that possess a lining of mucous epithelium.'),('HP:0001738','Exocrine pancreatic insufficiency','Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.'),('HP:0001739','Abnormality of the nasopharynx',''),('HP:0001741','Phimosis','The male foreskin cannot be fully retracted from the head of the penis.'),('HP:0001742','Nasal obstruction','Reduced ability to pass air through the nasal cavity often leading to mouth breathing.'),('HP:0001743','Abnormality of the spleen','An abnormality of the spleen.'),('HP:0001744','Splenomegaly','Abnormal increased size of the spleen.'),('HP:0001746','Asplenia','Absence (aplasia) of the spleen.'),('HP:0001747','Accessory spleen','An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.'),('HP:0001748','Polysplenia','Polysplenia is a congenital disease manifested by multiple small accessory spleens.'),('HP:0001750','Single ventricle','The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.'),('HP:0001751','Vestibular dysfunction','An abnormality of the functioning of the vestibular apparatus.'),('HP:0001756','Vestibular hypofunction','Reduced functioning of the vestibular apparatus.'),('HP:0001757','High-frequency sensorineural hearing impairment','A form of sensorineural hearing impairment that affects primarily the higher frequencies.'),('HP:0001760','Abnormality of the foot','An abnormality of the skeleton of foot.'),('HP:0001761','Pes cavus','The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.'),('HP:0001762','Talipes equinovarus','Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.'),('HP:0001763','Pes planus','A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.'),('HP:0001765','Hammertoe','Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.'),('HP:0001769','Broad foot','A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.'),('HP:0001770','Toe syndactyly','Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0001771','Achilles tendon contracture','A contracture of the Achilles tendon.'),('HP:0001772','Talipes equinovalgus','A deformity of foot and ankle in which the foot is bent down and outwards.'),('HP:0001773','Short foot','A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).'),('HP:0001775','Tarsal osteovalgus',''),('HP:0001776','Bilateral talipes equinovarus','Bilateral clubfoot deformity (see HP:0001762).'),('HP:0001780','Abnormality of toe','An anomaly of a toe.'),('HP:0001782','Bulbous tips of toes','An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.'),('HP:0001783','Broad metatarsal','Increased side-to-side width of a metatarsal bone.'),('HP:0001785','Ankle swelling',''),('HP:0001786','Narrow foot','A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.'),('HP:0001787','Abnormal delivery','An abnormality of the birth process.'),('HP:0001788','Premature rupture of membranes','Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.'),('HP:0001789','Hydrops fetalis','The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.'),('HP:0001790','Nonimmune hydrops fetalis','A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .'),('HP:0001791','Fetal ascites','Accumulation of fluid in the peritoneal cavity during the fetal period.'),('HP:0001792','Small nail','A nail that is diminished in length and width, i.e., underdeveloped nail.'),('HP:0001795','Hyperconvex nail','When viewed on end (with the digit tip pointing toward the examiner`s eye) the curve of the nail forms a tighter curve of convexity.'),('HP:0001798','Anonychia','Aplasia of the nail.'),('HP:0001799','Short nail','Decreased length of nail.'),('HP:0001800','Hypoplastic toenails','Underdevelopment of the toenail.'),('HP:0001802','Absent toenail','Congenital absence of the toenail.'),('HP:0001803','Nail pits','Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.'),('HP:0001804','Hypoplastic fingernail','Underdevelopment of a fingernail.'),('HP:0001805','Onychogryposis','Nail that appears thick when viewed on end.'),('HP:0001806','Onycholysis','Detachment of the nail from the nail bed.'),('HP:0001807','Ridged nail','Longitudinal, linear prominences in the nail plate.'),('HP:0001808','Fragile nails','Nails that easily break.'),('HP:0001809','Split nail','A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.'),('HP:0001810','Dystrophic toenail','Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.'),('HP:0001812','Hyperconvex fingernails','When viewed on end (with the finger tip pointing toward the examiner`s eye) the curve of the fingernail forms a tighter curve of convexity.'),('HP:0001814','Deep-set nails','Deeply placed nails.'),('HP:0001816','Thin nail','Nail that appears thin when viewed on end.'),('HP:0001817','Absent fingernail','Absence of a fingernail.'),('HP:0001818','Paronychia','The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).'),('HP:0001820','Leukonychia','White discoloration of the nails.'),('HP:0001821','Broad nail','Increased width of nail.'),('HP:0001822','Hallux valgus','Lateral deviation of the great toe (i.e., in the direction of the little toe).'),('HP:0001824','Weight loss','Reduction inexisting body weight.'),('HP:0001827','Genital tract atresia','Congenital occlusion of a tube in the genital tract.'),('HP:0001829','Foot polydactyly','A kind of polydactyly characterized by the presence of a supernumerary toe or toes.'),('HP:0001830','Postaxial foot polydactyly','Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.'),('HP:0001831','Short toe','A toe that appears disproportionately short compared to the foot.'),('HP:0001832','Abnormal metatarsal morphology','Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).'),('HP:0001833','Long foot','Increased back to front length of the foot.'),('HP:0001836','Camptodactyly of toe','Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.'),('HP:0001837','Broad toe','Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.'),('HP:0001838','Rocker bottom foot','The presence of both a prominent heel and a convex contour of the sole.'),('HP:0001839','Split foot','A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.'),('HP:0001840','Metatarsus adductus','The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.'),('HP:0001841','Preaxial foot polydactyly','Duplication of all or part of the first ray.'),('HP:0001842','Foot acroosteolysis',''),('HP:0001844','Abnormality of the hallux','This term applies for all abnormalities of the big toe, also called hallux.'),('HP:0001845','Overlapping toe','Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.'),('HP:0001847','Long hallux','Increased length of the big toe.'),('HP:0001848','Calcaneovalgus deformity','This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).'),('HP:0001849','Foot oligodactyly','A developmental defect resulting in the presence of fewer than the normal number of toes.'),('HP:0001850','Abnormality of the tarsal bones','An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.'),('HP:0001852','Sandal gap','A widely spaced gap between the first toe (the great toe) and the second toe.'),('HP:0001853','Bifid distal phalanx of toe',''),('HP:0001854','Podagra','Gout affecting the Metatarsophalangeal joint of big toe.'),('HP:0001857','Short distal phalanx of toe','Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.'),('HP:0001859','Distal foot symphalangism',''),('HP:0001862','obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)',''),('HP:0001863','Toe clinodactyly','Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).'),('HP:0001864','Clinodactyly of the 5th toe','Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).'),('HP:0001868','Autoamputation of foot','Spontaneous detachment of a foot from the body.'),('HP:0001869','Deep plantar creases','The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.'),('HP:0001870','Acroosteolysis of distal phalanges (feet)',''),('HP:0001871','Abnormality of blood and blood-forming tissues','An abnormality of the hematopoietic system.'),('HP:0001872','Abnormal thrombocyte morphology','An abnormality of platelets.'),('HP:0001873','Thrombocytopenia','A reduction in the number of circulating thrombocytes.'),('HP:0001874','Abnormality of neutrophils','A neutrophil abnormality.'),('HP:0001875','Neutropenia','An abnormally low number of neutrophils in the peripheral blood.'),('HP:0001876','Pancytopenia','An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).'),('HP:0001877','Abnormal erythrocyte morphology','Any structural abnormality of erythrocytes (red-blood cells).'),('HP:0001878','Hemolytic anemia','A type of anemia caused by premature destruction of red blood cells (hemolysis).'),('HP:0001879','Abnormal eosinophil morphology','An abnormal count or structure of eosinophils.'),('HP:0001880','Eosinophilia','Increased count of eosinophils in the blood.'),('HP:0001881','Abnormal leukocyte morphology','An abnormality of leukocytes.'),('HP:0001882','Leukopenia','An abnormal decreased number of leukocytes in the blood.'),('HP:0001883','Talipes','A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.'),('HP:0001884','Talipes calcaneovalgus','Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.'),('HP:0001885','Short 2nd toe','Underdevelopment (hypoplasia) of the second toe.'),('HP:0001886','Foot osteomyelitis','An infection of bone of the foot.'),('HP:0001888','Lymphopenia','A reduced number of lymphocytes in the blood.'),('HP:0001889','Megaloblastic anemia','Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).'),('HP:0001890','Autoimmune hemolytic anemia','An autoimmune form of hemolytic anemia.'),('HP:0001891','Iron deficiency anemia',''),('HP:0001892','Abnormal bleeding','An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.'),('HP:0001894','Thrombocytosis','Increased numbers of platelets in the peripheral blood.'),('HP:0001895','Normochromic anemia',''),('HP:0001896','Reticulocytopenia','A reduced number of reticulocytes in the peripheral blood.'),('HP:0001897','Normocytic anemia','A kind of anemia in which the volume of the red blood cells is normal.'),('HP:0001898','Increased red blood cell mass','The presence of an increased mass of red blood cells in the circulation.'),('HP:0001899','Increased hematocrit','An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.'),('HP:0001900','Increased hemoglobin',''),('HP:0001901','Polycythemia','Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.'),('HP:0001902','Giant platelets','Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).'),('HP:0001903','Anemia','A reduction in erythrocytes volume or hemoglobin concentration.'),('HP:0001904','Neutropenia in presence of anti-neutropil antibodies','A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.'),('HP:0001905','Congenital thrombocytopenia','Thrombocytopenia with congenital onset.'),('HP:0001907','Thromboembolism','The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.'),('HP:0001908','Hypoplastic anemia','Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.'),('HP:0001909','Leukemia','A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.'),('HP:0001911','Abnormal granulocyte morphology','Any structural abnormality or abnormal count of granulocytes.'),('HP:0001912','Abnormal basophil morphology','Any structural abnormality or abnormal count of basophils.'),('HP:0001913','Granulocytopenia','An abnormally reduced number of granulocytes in the blood.'),('HP:0001915','Aplastic anemia','Aplastic anemia is defined as pancytopenia with a hypocellular marrow.'),('HP:0001917','Renal amyloidosis','A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).'),('HP:0001919','Acute kidney injury','Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).'),('HP:0001920','Renal artery stenosis','The presence of stenosis of the renal artery.'),('HP:0001922','Vacuolated lymphocytes','The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.'),('HP:0001923','Reticulocytosis','An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.'),('HP:0001924','Sideroblastic anemia','Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).'),('HP:0001927','Acanthocytosis','Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.'),('HP:0001928','Abnormality of coagulation','An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.'),('HP:0001929','Reduced factor XI activity','Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.'),('HP:0001930','Nonspherocytic hemolytic anemia',''),('HP:0001931','Hypochromic anemia','A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.'),('HP:0001933','Subcutaneous hemorrhage','This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).'),('HP:0001934','Persistent bleeding after trauma',''),('HP:0001935','Microcytic anemia','A kind of anemia in which the volume of the red blood cells is reduced.'),('HP:0001937','Microangiopathic hemolytic anemia',''),('HP:0001939','Abnormality of metabolism/homeostasis',''),('HP:0001941','Acidosis','Abnormal acid accumulation or depletion of base.'),('HP:0001942','Metabolic acidosis','Acid accumulation or depletion of base in the body due to buildup of metabolic acids.'),('HP:0001943','Hypoglycemia','A decreased concentration of glucose in the blood.'),('HP:0001944','Dehydration',''),('HP:0001945','Fever','Elevated body temperature due to failed thermoregulation.'),('HP:0001946','Ketosis','Presence of elevated levels of ketone bodies in the body.'),('HP:0001947','Renal tubular acidosis','Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.'),('HP:0001948','Alkalosis','Depletion of acid or accumulation base in the body fluids.'),('HP:0001949','Hypokalemic alkalosis',''),('HP:0001950','Respiratory alkalosis','Alkalosis due to excess loss of carbon dioxide from the body.'),('HP:0001951','Episodic ammonia intoxication',''),('HP:0001952','Glucose intolerance','Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).'),('HP:0001953','Diabetic ketoacidosis','A type of diabetic metabolic abnormality with an accumulation of ketone bodies.'),('HP:0001954','Recurrent fever','Periodic (episodic or recurrent) bouts of fever.'),('HP:0001955','Unexplained fevers','Episodes of fever for which no infectious cause can be identified.'),('HP:0001956','Truncal obesity','Obesity located preferentially in the trunk of the body as opposed to the extremities.'),('HP:0001958','Nonketotic hypoglycemia',''),('HP:0001959','Polydipsia','Excessive thirst manifested by excessive fluid intake.'),('HP:0001960','Hypokalemic metabolic alkalosis',''),('HP:0001961','Hypoplastic heart',''),('HP:0001962','Palpitations','A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.'),('HP:0001963','Abnormal speech discrimination','A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.'),('HP:0001964','Aplasia/Hypoplasia of metatarsal bones','Absence or underdevelopment of the metatarsal bones.'),('HP:0001965','Abnormality of the scalp','Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.'),('HP:0001966','Mesangial abnormality','An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.'),('HP:0001967','Diffuse mesangial sclerosis','Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.'),('HP:0001969','Abnormal tubulointerstitial morphology','An abnormality that involves the tubules and interstitial tissue of the kidney.'),('HP:0001970','Tubulointerstitial nephritis','A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.'),('HP:0001971','Hypersplenism','A malfunctioning of the spleen in which it prematurely destroys red blood cells.'),('HP:0001972','Macrocytic anemia','A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).'),('HP:0001973','Autoimmune thrombocytopenia','The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.'),('HP:0001974','Leukocytosis','An abnormal increase in the number of leukocytes in the blood.'),('HP:0001975','Decreased platelet glycoprotein IIb-IIIa','Decreased cell membrane concentration of glycoprotein IIb-IIIa.'),('HP:0001976','Reduced antithrombin III activity','An abnormality of coagulation related to a decreased concentration of antithrombin-III.'),('HP:0001977','Abnormal thrombosis','Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).'),('HP:0001978','Extramedullary hematopoiesis','The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.'),('HP:0001980','Megaloblastic bone marrow','Abnormal increased number of megaloblasts in the bone marrow.'),('HP:0001981','Schistocytosis','The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.'),('HP:0001982','Sea-blue histiocytosis','An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.'),('HP:0001983','Reduced lymphocyte surface expression of CD43','A reduction in the expression of CD43 on the cell surface of lymphocytes.'),('HP:0001984','Intolerance to protein',''),('HP:0001985','Hypoketotic hypoglycemia','A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.'),('HP:0001986','Hypertonic dehydration',''),('HP:0001987','Hyperammonemia','An increased concentration of ammonia in the blood.'),('HP:0001988','Recurrent hypoglycemia','Recurrent episodes of decreased concentration of glucose in the blood.'),('HP:0001989','Fetal akinesia sequence','Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).'),('HP:0001991','Aplasia/Hypoplasia of toe','Absence or hypoplasia of toes.'),('HP:0001992','Organic aciduria','Excretion of non-amino organic acids in urine.'),('HP:0001993','Ketoacidosis','Acidosis resulting from accumulation of ketone bodies.'),('HP:0001994','Renal Fanconi syndrome','An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.'),('HP:0001995','Hyperchloremic acidosis',''),('HP:0001996','Chronic metabolic acidosis','Longstanding metabolic acidosis.'),('HP:0001997','Gout','Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.'),('HP:0001998','Neonatal hypoglycemia',''),('HP:0001999','Abnormal facial shape','An abnormal morphology (form) of the face or its components.'),('HP:0002000','Short columella','Reduced distance from the anterior border of the naris to the subnasale.'),('HP:0002002','Deep philtrum','Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.'),('HP:0002003','Large forehead',''),('HP:0002006','Facial cleft','A congenital malformation with a cleft (gap or opening) in the face.'),('HP:0002007','Frontal bossing','Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.'),('HP:0002009','Potter facies','A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.'),('HP:0002010','Narrow maxilla',''),('HP:0002011','Morphological central nervous system abnormality','A structural abnormality of the central nervous system.'),('HP:0002012','Abnormality of the abdominal organs','An abnormality of the viscera of the abdomen.'),('HP:0002013','Vomiting','Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.'),('HP:0002014','Diarrhea','Abnormally increased frequency of loose or watery bowel movements.'),('HP:0002015','Dysphagia','Difficulty in swallowing.'),('HP:0002017','Nausea and vomiting',''),('HP:0002018','Nausea','A sensation of unease in the stomach together with an urge to vomit.'),('HP:0002019','Constipation','Infrequent or difficult evacuation of feces.'),('HP:0002020','Gastroesophageal reflux','A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.'),('HP:0002021','Pyloric stenosis','An abnormal narrowing of the pylorus.'),('HP:0002023','Anal atresia','Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.'),('HP:0002024','Malabsorption','Impaired ability to absorb one or more nutrients from the intestine.'),('HP:0002025','Anal stenosis','Abnormal narrowing of the anal opening.'),('HP:0002027','Abdominal pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.'),('HP:0002028','Chronic diarrhea','The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.'),('HP:0002031','Abnormal esophagus morphology','A structural abnormality of the esophagus.'),('HP:0002032','Esophageal atresia','A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.'),('HP:0002033','Poor suck','An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.'),('HP:0002034','Abnormality of the rectum','An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.'),('HP:0002035','Rectal prolapse','Protrusion of the rectal mucous membrane through the anus.'),('HP:0002036','Hiatus hernia','The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.'),('HP:0002037','Inflammation of the large intestine','Inflammation, or an inflammatory state in the large intestine.'),('HP:0002038','Protein avoidance',''),('HP:0002039','Anorexia','A lack or loss of appetite for food (as a medical condition).'),('HP:0002040','Esophageal varix','Extreme dilation of the submucusoal veins in the lower portion of the esophagus.'),('HP:0002041','Intractable diarrhea',''),('HP:0002043','Esophageal stricture','A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.'),('HP:0002044','Zollinger-Ellison syndrome','A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.'),('HP:0002045','Hypothermia','Reduced body temperature due to failed thermoregulation.'),('HP:0002046','Heat intolerance','The inability to maintain a comfortably body temperature in warm or hot weather.'),('HP:0002047','Malignant hyperthermia','Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.'),('HP:0002048','Renal cortical atrophy','Atrophy of the cortex of the kidney.'),('HP:0002049','Proximal renal tubular acidosis','A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.'),('HP:0002050','Macroorchidism, postpubertal',''),('HP:0002054','Heavy supraorbital ridges',''),('HP:0002055','Curved linear dimple below the lower lip',''),('HP:0002056','Abnormality of the glabella','An abnormality of the glabella.'),('HP:0002057','Prominent glabella','Forward protrusion of the glabella.'),('HP:0002058','Myopathic facies','A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.'),('HP:0002059','Cerebral atrophy','Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.'),('HP:0002060','Abnormal cerebral morphology','Any structural abnormality of the telencephalon, which is also known as the cerebrum.'),('HP:0002061','Lower limb spasticity','Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis'),('HP:0002062','Morphological abnormality of the pyramidal tract','Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.'),('HP:0002063','Rigidity','Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.'),('HP:0002064','Spastic gait','Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.'),('HP:0002066','Gait ataxia','A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.'),('HP:0002067','Bradykinesia','Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).'),('HP:0002068','Neuromuscular dysphagia',''),('HP:0002069','Bilateral tonic-clonic seizure','A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.'),('HP:0002070','Limb ataxia','A kind of ataxia that affects movements of the extremities.'),('HP:0002071','Abnormality of extrapyramidal motor function','A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).'),('HP:0002072','Chorea','Chorea (Greek for `dance`) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.'),('HP:0002073','Progressive cerebellar ataxia',''),('HP:0002074','Increased neuronal autofluorescent lipopigment','Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.'),('HP:0002075','Dysdiadochokinesis','A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.'),('HP:0002076','Migraine','Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.'),('HP:0002077','Migraine with aura','A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.'),('HP:0002078','Truncal ataxia','Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.'),('HP:0002079','Hypoplasia of the corpus callosum','Underdevelopment of the corpus callosum.'),('HP:0002080','Intention tremor','A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient`s nose or a physician`s finger).'),('HP:0002083','Migraine without aura','Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.'),('HP:0002084','Encephalocele','A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.'),('HP:0002085','Occipital encephalocele','A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.'),('HP:0002086','Abnormality of the respiratory system','An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.'),('HP:0002087','Abnormality of the upper respiratory tract','An abnormality of the upper respiratory tract.'),('HP:0002088','Abnormal lung morphology','Any structural anomaly of the lung.'),('HP:0002089','Pulmonary hypoplasia',''),('HP:0002090','Pneumonia','Inflammation of any part of the lung parenchyma.'),('HP:0002091','Restrictive ventilatory defect','A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.'),('HP:0002092','Pulmonary arterial hypertension','Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.'),('HP:0002093','Respiratory insufficiency',''),('HP:0002094','Dyspnea','Difficult or labored breathing.'),('HP:0002097','Emphysema',''),('HP:0002098','Respiratory distress','Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.'),('HP:0002099','Asthma','Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.'),('HP:0002100','Recurrent aspiration pneumonia','Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.'),('HP:0002101','Abnormal lung lobation','Defects in the formation of pulmonary lobes.'),('HP:0002102','Pleuritis','Inflammation of the pleura.'),('HP:0002103','Abnormal pleura morphology','An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.'),('HP:0002104','Apnea','Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.'),('HP:0002105','Hemoptysis','Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.'),('HP:0002107','Pneumothorax','Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.'),('HP:0002108','Spontaneous pneumothorax','Pneumothorax occurring without traumatic injury to the chest or lung.'),('HP:0002109','obsolete Abnormality of the bronchi',''),('HP:0002110','Bronchiectasis','Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.'),('HP:0002111','obsolete Restrictive deficit on pulmonary function testing',''),('HP:0002113','Pulmonary infiltrates',''),('HP:0002118','Abnormality of the cerebral ventricles','Abnormality of the cerebral ventricles.'),('HP:0002119','Ventriculomegaly','An increase in size of the ventricular system of the brain.'),('HP:0002120','Cerebral cortical atrophy','Atrophy of the cortex of the cerebrum.'),('HP:0002121','Generalized non-motor (absence) seizure','A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.'),('HP:0002123','Generalized myoclonic seizure','A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.'),('HP:0002126','Polymicrogyria','Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).'),('HP:0002127','Abnormal upper motor neuron morphology','Any structural anomaly that affects the upper motor neuron.'),('HP:0002131','Episodic ataxia','Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n'),('HP:0002132','Porencephalic cyst','A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.'),('HP:0002133','Status epilepticus','Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.'),('HP:0002134','Abnormality of the basal ganglia','Abnormality of the basal ganglia.'),('HP:0002135','Basal ganglia calcification','The presence of calcium deposition affecting one or more structures of the basal ganglia.'),('HP:0002136','Broad-based gait','An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.'),('HP:0002138','Subarachnoid hemorrhage','Hemorrhage occurring between the arachnoid mater and the pia mater.'),('HP:0002139','Arrhinencephaly',''),('HP:0002140','Ischemic stroke',''),('HP:0002141','Gait imbalance',''),('HP:0002143','Abnormality of the spinal cord','An abnormality of the spinal cord (myelon).'),('HP:0002144','Tethered cord','During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.'),('HP:0002145','Frontotemporal dementia','A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.'),('HP:0002148','Hypophosphatemia','An abnormally decreased phosphate concentration in the blood.'),('HP:0002149','Hyperuricemia','An abnormally high level of uric acid in the blood.'),('HP:0002150','Hypercalciuria',''),('HP:0002151','Increased serum lactate','Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).'),('HP:0002152','Hyperproteinemia','An increased concentration of proteins in the blood.'),('HP:0002153','Hyperkalemia','An abnormally increased potassium concentration in the blood.'),('HP:0002154','Hyperglycinemia','An elevated concentration of glycine in the blood.'),('HP:0002155','Hypertriglyceridemia','An abnormal increase in the level of triglycerides in the blood.'),('HP:0002156','Homocystinuria','An increased concentration of homocystine in the urine.'),('HP:0002157','Azotemia','An increased concentration of nitrogen compounds in the blood.'),('HP:0002159','Heparan sulfate excretion in urine','An increased concentration of heparan sulfates in the urine.'),('HP:0002160','Hyperhomocystinemia','An increased concentration of homocystine in the blood.'),('HP:0002161','Hyperlysinemia','An increased concentration of lysine in the blood.'),('HP:0002162','Low posterior hairline','Hair on the neck extends more inferiorly than usual.'),('HP:0002164','Nail dysplasia','The presence of developmental dysplasia of the nail.'),('HP:0002165','Pterygium of nails','Inward advance of skin over the nail plate.'),('HP:0002166','Impaired vibration sensation in the lower limbs','A decrease in the ability to perceive vibration in the legs.'),('HP:0002167','Neurological speech impairment',''),('HP:0002168','Scanning speech',''),('HP:0002169','Clonus','A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.'),('HP:0002170','Intracranial hemorrhage','Hemorrhage occurring within the skull.'),('HP:0002171','Gliosis','Gliosis is the focal proliferation of glial cells in the central nervous system.'),('HP:0002172','Postural instability','A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.'),('HP:0002173','Hypoglycemic seizures',''),('HP:0002174','Postural tremor','A type of tremors that is triggered by holding a limb in a fixed position.'),('HP:0002176','Spinal cord compression','External mechanical compression of the spinal cord.'),('HP:0002179','Opisthotonus',''),('HP:0002180','Neurodegeneration','Progressive loss of neural cells and tissue.'),('HP:0002181','Cerebral edema','Abnormal accumulation of fluid in the brain.'),('HP:0002183','Phonophobia','An abnormally heightened sensitivity to loud sounds.'),('HP:0002185','Neurofibrillary tangles','Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.'),('HP:0002186','Apraxia','A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.'),('HP:0002187','Intellectual disability, profound','Profound mental retardation is defined as an intelligence quotient (IQ) below 20.'),('HP:0002188','Delayed CNS myelination','Delayed myelination in the central nervous system.'),('HP:0002189','Excessive daytime sleepiness',''),('HP:0002190','Choroid plexus cyst','A cyst occurring within the choroid plexus within a cerebral ventricle.'),('HP:0002191','Progressive spasticity','Spasticity that increases in degree with time.'),('HP:0002193','Pseudobulbar behavioral symptoms','Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.'),('HP:0002194','Delayed gross motor development','A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.'),('HP:0002195','Dysgenesis of the cerebellar vermis','Defective development of the vermis of cerebellum.'),('HP:0002196','Myelopathy',''),('HP:0002197','Generalized-onset seizure','A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.'),('HP:0002198','Dilated fourth ventricle','An abnormal dilatation of the fourth cerebral ventricle.'),('HP:0002199','Hypocalcemic seizures',''),('HP:0002200','Pseudobulbar signs','Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.'),('HP:0002202','Pleural effusion','The presence of an excessive amount of fluid in the pleural cavity.'),('HP:0002203','Respiratory paralysis','Inability to move the muscles of respiration.'),('HP:0002204','Pulmonary embolism','An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.'),('HP:0002205','Recurrent respiratory infections','An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.'),('HP:0002206','Pulmonary fibrosis','Replacement of normal lung tissues by fibroblasts and collagen.'),('HP:0002207','Diffuse reticular or finely nodular infiltrations',''),('HP:0002208','Coarse hair','Hair shafts are rough in texture.'),('HP:0002209','Sparse scalp hair','Decreased number of hairs per unit area of skin of the scalp.'),('HP:0002211','White forelock','A triangular depigmented region of white hairs located in the anterior midline of the scalp.'),('HP:0002212','Curly hair',''),('HP:0002213','Fine hair','Hair that is fine or thin to the touch.'),('HP:0002215','Sparse axillary hair','Reduced number or density of axillary hair.'),('HP:0002216','Premature graying of hair','Development of gray hair at a younger than normal age.'),('HP:0002217','Slow-growing hair','Hair whose growth is slower than normal.'),('HP:0002218','Silver-gray hair','Hypopigmented hair that appears silver-gray.'),('HP:0002219','Facial hypertrichosis','Excessive, increased hair growth located in the facial region.'),('HP:0002220','Melanin pigment aggregation in hair shafts',''),('HP:0002221','Absent axillary hair','Absence of axillary hair.'),('HP:0002223','Absent eyebrow','Absence of the eyebrow.'),('HP:0002224','Woolly hair','The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.'),('HP:0002225','Sparse pubic hair','Reduced number or density of pubic hair.'),('HP:0002226','White eyebrow','White color (lack of pigmentation) of the eyebrow.'),('HP:0002227','White eyelashes','White color (lack of pigmentation) of the eyelashes.'),('HP:0002229','obsolete Alopecia areata',''),('HP:0002230','Generalized hirsutism','Abnormally increased hair growth over much of the entire body.'),('HP:0002231','Sparse body hair','Sparseness of the body hair.'),('HP:0002232','Patchy alopecia','Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.'),('HP:0002234','Early balding','Loss of scalp hair at an earlier than normal age.'),('HP:0002235','Pili canaliculi','Uncombable hair.'),('HP:0002236','Frontal upsweep of hair','Upward and/or sideward growth of anterior hair.'),('HP:0002239','Gastrointestinal hemorrhage','Hemorrhage affecting the gastrointestinal tract.'),('HP:0002240','Hepatomegaly','Abnormally increased size of the liver.'),('HP:0002242','Abnormal intestine morphology','An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.'),('HP:0002243','Protein-losing enteropathy','Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.'),('HP:0002244','Abnormality of the small intestine','An abnormality of the small intestine.'),('HP:0002245','Meckel diverticulum','Meckel`s diverticulum is a congenital diverticulum located in the distal ileum.'),('HP:0002246','Abnormality of the duodenum','An abnormality of the duodenum, i.e., the first section of the small intestine.'),('HP:0002247','Duodenal atresia','A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.'),('HP:0002248','Hematemesis','The vomiting of blood.'),('HP:0002249','Melena','The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.'),('HP:0002250','Abnormal large intestine morphology','Any abnormality of the large intestine.'),('HP:0002251','Aganglionic megacolon','An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.'),('HP:0002253','Colonic diverticula','The presence of multiple diverticula of the colon.'),('HP:0002254','Intermittent diarrhea',''),('HP:0002256','Small bowel diverticula',''),('HP:0002257','Chronic rhinitis','Chronic inflammation of the nasal mucosa.'),('HP:0002263','Exaggerated cupid`s bow','More pronounced paramedian peaks and median notch of the Cupid`s bow.'),('HP:0002265','Large fleshy ears',''),('HP:0002266','Focal clonic seizure','A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.'),('HP:0002267','Exaggerated startle response','An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.'),('HP:0002268','Paroxysmal dystonia','A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.'),('HP:0002269','Abnormality of neuronal migration','An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.'),('HP:0002270','Abnormality of the autonomic nervous system','An abnormality of the autonomic nervous system.'),('HP:0002271','obsolete Autonomic dysregulation',''),('HP:0002273','Tetraparesis','Weakness of all four limbs.'),('HP:0002275','Poor motor coordination',''),('HP:0002277','Horner syndrome','An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.'),('HP:0002280','Enlarged cisterna magna','Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.'),('HP:0002281','obsolete Gray matter heterotopias',''),('HP:0002282','Gray matter heterotopia','Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.'),('HP:0002283','Global brain atrophy','Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.'),('HP:0002286','Fair hair','A lesser degree of hair pigmentation than would otherwise be expected.'),('HP:0002287','Progressive alopecia','Progressive loss of hair.'),('HP:0002289','Alopecia universalis','Loss of all hair on the entire body.'),('HP:0002290','Poliosis','Circumscribed depigmentation of the hair of the head or the eyelashes.'),('HP:0002292','Frontal balding','Absence of hair in the anterior midline and/or parietal areas.'),('HP:0002293','Alopecia of scalp',''),('HP:0002296','Progressive hypotrichosis','Progressively reduced or lacking hair growth.'),('HP:0002297','Red hair',''),('HP:0002298','Absent hair',''),('HP:0002299','Brittle hair','Fragile, easily breakable hair, i.e., with reduced tensile strength.'),('HP:0002300','Mutism',''),('HP:0002301','Hemiplegia','Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.'),('HP:0002304','Akinesia','Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.'),('HP:0002305','Athetosis','A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.'),('HP:0002307','Drooling','Habitual flow of saliva out of the mouth.'),('HP:0002308','Arnold-Chiari malformation','Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.'),('HP:0002310','Orofacial dyskinesia',''),('HP:0002311','Incoordination',''),('HP:0002312','Clumsiness','Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.'),('HP:0002313','Spastic paraparesis',''),('HP:0002314','Degeneration of the lateral corticospinal tracts','Deterioration of the tissues of the lateral corticospinal tracts.'),('HP:0002315','Headache','Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.'),('HP:0002317','Unsteady gait',''),('HP:0002318','Cervical myelopathy',''),('HP:0002321','Vertigo','An abnormal sensation of spinning while the body is actually stationary.'),('HP:0002322','Resting tremor','A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.'),('HP:0002323','Anencephaly',''),('HP:0002324','Hydranencephaly','A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.'),('HP:0002326','Transient ischemic attack',''),('HP:0002329','Drowsiness','Excessive daytime sleepiness.'),('HP:0002330','Paroxysmal drowsiness','Attacks of disabling daytime drowsiness and low alertness.'),('HP:0002331','Recurrent paroxysmal headache','Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.'),('HP:0002332','Lack of peer relationships',''),('HP:0002333','Motor deterioration','Loss of previously present motor (i.e., movement) abilities.'),('HP:0002334','Abnormality of the cerebellar vermis','An anomaly of the vermis of cerebellum.'),('HP:0002335','Agenesis of cerebellar vermis','Congenital absence of the vermis of cerebellum.'),('HP:0002339','Abnormal caudate nucleus morphology','Any structural abnormality of the caudate nucleus.'),('HP:0002340','Caudate atrophy',''),('HP:0002341','Cervical cord compression','Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.'),('HP:0002342','Intellectual disability, moderate','Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.'),('HP:0002343','Normal pressure hydrocephalus','A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.'),('HP:0002344','Progressive neurologic deterioration',''),('HP:0002345','Action tremor','A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.'),('HP:0002346','Head tremor','An unintentional, oscillating to-and-fro muscle movement affecting head movement.'),('HP:0002349','Focal aware seizure','A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.'),('HP:0002350','Cerebellar cyst',''),('HP:0002352','Leukoencephalopathy','This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.'),('HP:0002353','EEG abnormality','Abnormality observed by electroencephalogram (EEG), which is used to record of the brain`s spontaneous electrical activity from multiple electrodes placed on the scalp.'),('HP:0002354','Memory impairment','An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.'),('HP:0002355','Difficulty walking','Reduced ability to walk (ambulate).'),('HP:0002356','Writer`s cramp','A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.'),('HP:0002357','Dysphasia',''),('HP:0002359','Frequent falls',''),('HP:0002360','Sleep disturbance','An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.'),('HP:0002361','Psychomotor deterioration','Loss of previously present mental and motor abilities.'),('HP:0002362','Shuffling gait','A type of gait (walking) characterized by by dragging one`s feet along or without lifting the feet fully from the ground.'),('HP:0002363','Abnormality of brainstem morphology','An anomaly of the brainstem.'),('HP:0002365','Hypoplasia of the brainstem','Underdevelopment of the brainstem.'),('HP:0002366','Abnormal lower motor neuron morphology','Any structural anomaly of the lower motor neuron.'),('HP:0002367','Visual hallucinations',''),('HP:0002370','Poor coordination',''),('HP:0002371','Loss of speech',''),('HP:0002372','Normal interictal EEG','Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.'),('HP:0002373','Febrile seizure (within the age range of 3 months to 6 years)','A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.'),('HP:0002374','Diminished movement',''),('HP:0002375','Hypokinesia','Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.'),('HP:0002376','Developmental regression','Loss of developmental skills, as manifested by loss of developmental milestones.'),('HP:0002377','obsolete Paraganglioma-related cranial nerve palsy',''),('HP:0002378','Hand tremor','An unintentional, oscillating to-and-fro muscle movement affecting the hand.'),('HP:0002380','Fasciculations','Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.'),('HP:0002381','Aphasia','An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.'),('HP:0002383','Encephalitis',''),('HP:0002384','Focal impaired awareness seizure','Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person`s awareness of themselves or their surroundings at any point during the seizure.'),('HP:0002385','Paraparesis','Weakness or partial paralysis in the lower limbs.'),('HP:0002389','Cavum septum pellucidum','If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.'),('HP:0002390','Spinal arteriovenous malformation',''),('HP:0002392','EEG with polyspike wave complexes','The presence of complexes of repetitive spikes and waves in EEG.'),('HP:0002395','Lower limb hyperreflexia',''),('HP:0002396','Cogwheel rigidity','A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).'),('HP:0002398','Degeneration of anterior horn cells',''),('HP:0002401','Stroke-like episode','No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.'),('HP:0002403','Positive Romberg sign','The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.'),('HP:0002404','Thickened superior cerebellar peduncle','Increased width of the superior cerebellar peduncle.'),('HP:0002406','Limb dysmetria','A type of dysmetria involving the limbs.'),('HP:0002408','Cerebral arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.'),('HP:0002410','Aqueductal stenosis','Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.'),('HP:0002411','Myokymia','Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.'),('HP:0002414','Spina bifida','Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.'),('HP:0002415','Leukodystrophy','Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.'),('HP:0002416','Subependymal cysts','Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.'),('HP:0002418','Abnormality of midbrain morphology','An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.'),('HP:0002419','Molar tooth sign on MRI','An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.'),('HP:0002421','Poor head control','Difficulty to maintain correct position of the head while standing or sitting.'),('HP:0002423','Long-tract signs',''),('HP:0002425','Anarthria','A defect in the motor ability that enables speech.'),('HP:0002427','Motor aphasia','Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.'),('HP:0002435','Meningocele','Protrusion of the meninges through a defect of the vertebral column.'),('HP:0002436','Occipital meningocele','A herniation of meninges through a congenital bone defect in the skull in the occipital region.'),('HP:0002438','Cerebellar malformation',''),('HP:0002439','Frontolimbic dementia',''),('HP:0002442','Dyscalculia','A specific learning disability involving mathematics and arithmetic.'),('HP:0002444','Hypothalamic hamartoma','The presence of a hamartoma of the hypothalamus.'),('HP:0002445','Tetraplegia','Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.'),('HP:0002446','Astrocytosis','Proliferation of astrocytes in the area of a lesion of the central nervous system.'),('HP:0002448','Progressive encephalopathy',''),('HP:0002450','Abnormal motor neuron morphology','Any structural anomaly that affects the motor neuron.'),('HP:0002451','Limb dystonia','A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.'),('HP:0002453','Abnormal globus pallidus morphology','An abnormality of the globus pallidus.'),('HP:0002454','Eye of the tiger anomaly of globus pallidus','The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.'),('HP:0002457','Abnormal head movements',''),('HP:0002459','obsolete Dysautonomia',''),('HP:0002460','Distal muscle weakness','Reduced strength of the musculature of the distal extremities.'),('HP:0002461','Dense calcifications in the cerebellar dentate nucleus',''),('HP:0002463','Language impairment','Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.'),('HP:0002464','Spastic dysarthria','A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.'),('HP:0002465','Poor speech',''),('HP:0002470','Nonprogressive cerebellar ataxia',''),('HP:0002472','Small cerebral cortex','Reduced size of the cerebral cortex.'),('HP:0002474','Expressive language delay','A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0002475','Myelomeningocele','Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.'),('HP:0002476','Primitive reflex','The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.'),('HP:0002478','Progressive spastic quadriplegia',''),('HP:0002480','Hepatic encephalopathy','Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.'),('HP:0002483','Bulbar signs',''),('HP:0002486','Myotonia','An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.'),('HP:0002487','Hyperkinetic movements','Motor hyperactivity with excessive movement of muscles of the body as a whole.'),('HP:0002488','Acute leukemia','A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).'),('HP:0002490','Increased CSF lactate','Increased concentration of lactate in the cerebrospinal fluid.'),('HP:0002491','Spasticity of facial muscles','Spasticity of one or more muscles innervated by the facial nerve.'),('HP:0002492','Morphological abnormality of the corticospinal tract','Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.'),('HP:0002493','Upper motor neuron dysfunction','A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.'),('HP:0002494','Abnormal rapid eye movement sleep','Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.'),('HP:0002495','Impaired vibratory sensation','A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.'),('HP:0002497','Spastic ataxia',''),('HP:0002500','Abnormality of the cerebral white matter','An abnormality of the cerebral white matter.'),('HP:0002501','Spasticity of pharyngeal muscles',''),('HP:0002503','Spinocerebellar tract degeneration',''),('HP:0002504','Calcification of the small brain vessels','Deposition of calcium salts within small blood vessels of the brain.'),('HP:0002505','Progressive inability to walk',''),('HP:0002506','Diffuse cerebral atrophy','Diffuse unlocalised atrophy affecting the cerebrum.'),('HP:0002507','Semilobar holoprosencephaly','A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.'),('HP:0002508','Brainstem dysplasia','A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.'),('HP:0002509','Limb hypertonia',''),('HP:0002510','Spastic tetraplegia','Spastic paralysis affecting all four limbs.'),('HP:0002511','Alzheimer disease','A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.'),('HP:0002512','Brain stem compression',''),('HP:0002514','Cerebral calcification','The presence of calcium deposition within brain structures.'),('HP:0002515','Waddling gait','Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.'),('HP:0002516','Increased intracranial pressure','An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.'),('HP:0002518','Abnormality of the periventricular white matter',''),('HP:0002519','Hypnagogic hallucinations',''),('HP:0002521','Hypsarrhythmia','Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).'),('HP:0002522','Areflexia of lower limbs','Inability to elicit tendon reflexes in the lower limbs.'),('HP:0002524','Cataplexy','A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.'),('HP:0002526','Deficit in nonword repetition','Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.'),('HP:0002527','Falls',''),('HP:0002528','Granulovacuolar degeneration','Electron-dense granules within double membrane-bound cytoplasmic vacuoles.'),('HP:0002529','Neuronal loss in central nervous system',''),('HP:0002530','Axial dystonia','A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.'),('HP:0002533','Abnormal posturing','Involuntary flexion or extension of the arms and legs.'),('HP:0002536','Abnormal cortical gyration','An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.'),('HP:0002538','Abnormality of the cerebral cortex','An abnormality of the cerebral cortex.'),('HP:0002539','Cortical dysplasia','The presence of developmental dysplasia of the cerebral cortex.'),('HP:0002540','Inability to walk','Incapability to ambulate.'),('HP:0002542','Olivopontocerebellar atrophy','Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.'),('HP:0002544','Retrocollis','A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.'),('HP:0002545','Patchy demyelination of subcortical white matter','Patchy loss of myelin from nerve fibers in the central nervous system.'),('HP:0002546','Incomprehensible speech',''),('HP:0002548','Parkinsonism with favorable response to dopaminergic medication','Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.'),('HP:0002549','Deficit in phonologic short-term memory',''),('HP:0002550','Absent facial hair','Absence of facial hair.'),('HP:0002552','Trichodysplasia','Developmental dysplasia of the hair.'),('HP:0002553','Highly arched eyebrow','Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.'),('HP:0002555','Absent pubic hair','Absence of pubic hair.'),('HP:0002557','Hypoplastic nipples','Underdevelopment of the nipple.'),('HP:0002558','Supernumerary nipple','Presence of more than two nipples.'),('HP:0002561','Absent nipple','Congenital failure to develop, and absence of, the nipple.'),('HP:0002562','Low-set nipples','Placement of the nipples at a lower than normal location.'),('HP:0002563','Constrictive pericarditis','Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.'),('HP:0002564','obsolete Malformation of the heart and great vessels',''),('HP:0002566','Intestinal malrotation','An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.'),('HP:0002570','Steatorrhea','Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.'),('HP:0002571','Achalasia','A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.'),('HP:0002572','Episodic vomiting','Paroxysmal, recurrent episodes of vomiting.'),('HP:0002573','Hematochezia','The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.'),('HP:0002574','Episodic abdominal pain','An intermittent form of abdominal pain.'),('HP:0002575','Tracheoesophageal fistula','An abnormal connection (fistula) between the esophagus and the trachea.'),('HP:0002576','Intussusception','An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.'),('HP:0002577','Abnormality of the stomach','An abnormality of the stomach.'),('HP:0002578','Gastroparesis','Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.'),('HP:0002579','Gastrointestinal dysmotility','Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.'),('HP:0002580','Volvulus','Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.'),('HP:0002582','Chronic atrophic gastritis','A form of chronic gastritis associated with atrophic gastric mucous membrane.'),('HP:0002583','Colitis','Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.'),('HP:0002584','Intestinal bleeding','Bleeding from the intestines.'),('HP:0002585','Abnormality of the peritoneum','An abnormality of the peritoneum.'),('HP:0002586','Peritonitis','Inflammation of the peritoneum.'),('HP:0002587','Projectile vomiting','Vomiting that ejects the gastric contents with great force.'),('HP:0002588','Duodenal ulcer','An erosion of the mucous membrane in a portion of the duodenum.'),('HP:0002589','Gastrointestinal atresia',''),('HP:0002590','Paralytic ileus',''),('HP:0002591','Polyphagia','A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.'),('HP:0002592','Gastric ulcer','An ulcer, that is, an erosion of an area of the gastric mucous membrane.'),('HP:0002593','Intestinal lymphangiectasia','Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.'),('HP:0002594','Pancreatic hypoplasia','Hypoplasia of the pancreas.'),('HP:0002595','Ileus','Acute obstruction of the intestines preventing passage of the contents of the intestines.'),('HP:0002597','Abnormality of the vasculature','An abnormality of the vasculature.'),('HP:0002599','Head titubation','A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.'),('HP:0002600','Hyporeflexia of lower limbs','Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.'),('HP:0002601','Paresis of extensor muscles of the big toe',''),('HP:0002604','Gastrointestinal telangiectasia','Telangiectasia affecting the gastrointestinal tract.'),('HP:0002605','Hepatic necrosis','The presence of cell death (necrosis) affecting the liver.'),('HP:0002607','Bowel incontinence','Involuntary fecal soiling in adults and children who have usually already been toilet trained.'),('HP:0002608','Celiac disease','Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.'),('HP:0002611','Cholestatic liver disease',''),('HP:0002612','Congenital hepatic fibrosis','The presence of fibrosis of that part of the liver with congenital onset.'),('HP:0002613','Biliary cirrhosis','Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.'),('HP:0002614','Hepatic periportal necrosis','A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.'),('HP:0002615','Hypotension','Low Blood Pressure, vascular hypotension.'),('HP:0002616','Aortic root aneurysm','An abnormal localized widening (dilatation) of the aortic root.'),('HP:0002617','Dilatation','Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.'),('HP:0002619','Varicose veins','Enlarged and tortuous veins.'),('HP:0002621','Atherosclerosis','A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.'),('HP:0002622','obsolete Dissecting aortic dilatation',''),('HP:0002623','Overriding aorta','An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.'),('HP:0002624','Abnormal venous morphology','An anomaly of vein.'),('HP:0002625','Deep venous thrombosis','Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.'),('HP:0002626','Venous varicosities of celiac and mesenteric vessels','Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.'),('HP:0002627','Right aortic arch with mirror image branching','The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.'),('HP:0002629','Gastrointestinal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.'),('HP:0002630','Fat malabsorption','Abnormality of the absorption of fat from the gastrointestinal tract.'),('HP:0002631','obsolete Dilatation of ascending aorta',''),('HP:0002632','Low-to-normal blood pressure',''),('HP:0002633','Vasculitis','Inflammation of blood vessel.'),('HP:0002634','Arteriosclerosis','Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.'),('HP:0002635','Type IV atherosclerotic lesion','In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.'),('HP:0002636','Dilatation of an abdominal artery','Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.'),('HP:0002637','Cerebral ischemia',''),('HP:0002638','Superficial thrombophlebitis','Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).'),('HP:0002639','Budd-Chiari syndrome','Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.'),('HP:0002640','Hypertension associated with pheochromocytoma','A type of hypertension associated with pheochromocytoma.'),('HP:0002641','Peripheral thrombosis',''),('HP:0002642','Arteriovenous fistulas of celiac and mesenteric vessels',''),('HP:0002643','Neonatal respiratory distress','Respiratory difficulty as newborn.'),('HP:0002644','Abnormality of pelvic girdle bone morphology','An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.'),('HP:0002645','Wormian bones','The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.'),('HP:0002647','Aortic dissection','Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.'),('HP:0002648','Abnormality of calvarial morphology','The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.'),('HP:0002650','Scoliosis','The presence of an abnormal lateral curvature of the spine.'),('HP:0002651','Spondyloepimetaphyseal dysplasia',''),('HP:0002652','Skeletal dysplasia','A general term describing features characterized by abnormal development of bones and connective tissues.'),('HP:0002653','Bone pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.'),('HP:0002654','Multiple epiphyseal dysplasia',''),('HP:0002655','Spondyloepiphyseal dysplasia','A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).'),('HP:0002656','Epiphyseal dysplasia',''),('HP:0002657','Spondylometaphyseal dysplasia',''),('HP:0002659','Increased susceptibility to fractures','An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.'),('HP:0002661','Painless fractures due to injury','An increased tendency to fractures following trauma, with fractures occurring without pain.'),('HP:0002663','Delayed epiphyseal ossification',''),('HP:0002664','Neoplasm','An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).'),('HP:0002665','Lymphoma','A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.'),('HP:0002666','Pheochromocytoma','Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.'),('HP:0002667','Nephroblastoma','The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.'),('HP:0002668','Paraganglioma','A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.'),('HP:0002669','Osteosarcoma','A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.'),('HP:0002671','Basal cell carcinoma','The presence of a basal cell carcinoma of the skin.'),('HP:0002672','Gastrointestinal carcinoma',''),('HP:0002673','Coxa valga','Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).'),('HP:0002676','Cloverleaf skull','Trilobar skull configuration when viewed from the front or behind.'),('HP:0002677','Small foramen magnum','An abnormal narrowing of the foramen magnum.'),('HP:0002678','Skull asymmetry',''),('HP:0002679','Abnormality of the sella turcica','Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.'),('HP:0002680','J-shaped sella turcica','A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.'),('HP:0002681','Deformed sella turcica',''),('HP:0002682','Broad skull','Increased width of the skull.'),('HP:0002683','Abnormality of the calvaria','Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.'),('HP:0002684','Thickened calvaria','The presence of an abnormally thick calvaria.'),('HP:0002686','Prenatal maternal abnormality',''),('HP:0002687','Abnormality of frontal sinus','An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.'),('HP:0002688','Absent frontal sinuses','Aplasia of frontal sinus.'),('HP:0002689','Absent paranasal sinuses','Aplasia of the paranasal sinuses.'),('HP:0002690','Large sella turcica','An abnormal enlargement of the sella turcica.'),('HP:0002691','Platybasia','A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.'),('HP:0002692','Hypoplastic facial bones',''),('HP:0002693','Abnormality of the skull base','An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.'),('HP:0002694','Sclerosis of skull base','Increased bone density of the skull base without significant changes in bony contour.'),('HP:0002695','Symmetrical, oval parietal bone defects',''),('HP:0002696','Abnormal parietal bone morphology','Any abnormality of the parietal bone of the skull.'),('HP:0002697','Parietal foramina','The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.'),('HP:0002699','Abnormality of the foramen magnum','Any abnormality of the foramen magnum.'),('HP:0002700','Large foramen magnum','An abnormal increase in the size of the foramen magnum.'),('HP:0002703','Abnormality of skull ossification','An abnormality of the process of ossification of the skull.'),('HP:0002705','High, narrow palate','The presence of a high and narrow palate.'),('HP:0002707','Palate telangiectasia','The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.'),('HP:0002708','Prominent median palatal raphe','Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.'),('HP:0002710','Commissural lip pit','A depression located at an oral commissure.'),('HP:0002711','Exaggerated median tongue furrow','Increased depth of the median tongue furrow.'),('HP:0002714','Downturned corners of mouth','A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.'),('HP:0002715','Abnormality of the immune system','An abnormality of the immune system.'),('HP:0002716','Lymphadenopathy','Enlargment (swelling) of a lymph node.'),('HP:0002717','Adrenal overactivity',''),('HP:0002718','Recurrent bacterial infections','Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.'),('HP:0002719','Recurrent infections','Increased susceptibility to infections.'),('HP:0002720','Decreased circulating IgA level','Decreased levels of immunoglobulin A (IgA).'),('HP:0002721','Immunodeficiency','Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.'),('HP:0002722','Recurrent abscess formation','An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.'),('HP:0002723','Absence of bactericidal oxidative respiratory burst in phagocytes','An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.'),('HP:0002724','Recurrent Aspergillus infections','An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.'),('HP:0002725','Systemic lupus erythematosus','A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.'),('HP:0002726','Recurrent Staphylococcus aureus infections','Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.'),('HP:0002728','Chronic mucocutaneous candidiasis','Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.'),('HP:0002729','Follicular hyperplasia','Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.'),('HP:0002730','Chronic noninfectious lymphadenopathy','A chronic form of lymphadenopathy that is not related to infection.'),('HP:0002731','Decreased lymphocyte apoptosis','A reduction in the rate of apoptosis in lymphocytes.'),('HP:0002732','Lymph node hypoplasia','Underdevelopment of the lymph nodes.'),('HP:0002733','Abnormality of the lymph nodes','A lymph node abnormality.'),('HP:0002737','Thick skull base',''),('HP:0002738','Hypoplastic frontal sinuses','Underdevelopment of frontal sinus.'),('HP:0002740','Recurrent E. coli infections','Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.'),('HP:0002741','Recurrent Serratia marcescens infections','Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.'),('HP:0002742','Recurrent Klebsiella infections','Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.'),('HP:0002743','Recurrent enteroviral infections','Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.'),('HP:0002744','Bilateral cleft lip and palate','Cleft lip and cleft palate affecting both sides of the face.'),('HP:0002745','Oral leukoplakia','A thickened white patch on the oral mucosa that cannot be rubbed off.'),('HP:0002747','Respiratory insufficiency due to muscle weakness',''),('HP:0002748','Rickets','Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.'),('HP:0002749','Osteomalacia','Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.'),('HP:0002750','Delayed skeletal maturation','A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.'),('HP:0002751','Kyphoscoliosis','An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.'),('HP:0002752','Sparse bone trabeculae',''),('HP:0002753','Thin bony cortex','Abnormal thinning of the cortical region of bones.'),('HP:0002754','Osteomyelitis','Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.'),('HP:0002755','obsolete Osteomyelitis due to immunodeficiency',''),('HP:0002756','Pathologic fracture','A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.'),('HP:0002757','Recurrent fractures','The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).'),('HP:0002758','Osteoarthritis','Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.'),('HP:0002761','Generalized joint laxity','Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.'),('HP:0002762','Multiple exostoses','Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.'),('HP:0002763','Abnormal cartilage morphology','Any morphological abnormality of cartilage.'),('HP:0002764','Stippled chondral calcification',''),('HP:0002766','Relatively short spine',''),('HP:0002773','obsolete Small vertebral bodies',''),('HP:0002777','Tracheal stenosis',''),('HP:0002778','Abnormal trachea morphology','A structural anomaly of the trachea.'),('HP:0002779','Tracheomalacia',''),('HP:0002780','Bronchomalacia','Weakness or softness of the cartilage in the walls of the bronchial tubes.'),('HP:0002781','Upper airway obstruction','Increased resistance to the passage of air in the upper airway.'),('HP:0002783','Recurrent lower respiratory tract infections','An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.'),('HP:0002786','Tracheobronchomalacia','Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.'),('HP:0002787','Tracheal calcification','Calcification (abnormal deposits of calcium) in the tracheal tissues.'),('HP:0002788','Recurrent upper respiratory tract infections','An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).'),('HP:0002789','Tachypnea','Very rapid breathing.'),('HP:0002790','Neonatal breathing dysregulation',''),('HP:0002791','Hypoventilation','A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).'),('HP:0002792','Reduced vital capacity','An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.'),('HP:0002793','Abnormal pattern of respiration','An anomaly of the rhythm or depth of breathing.'),('HP:0002795','Functional respiratory abnormality',''),('HP:0002797','Osteolysis','Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.'),('HP:0002803','Congenital contracture','One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.'),('HP:0002804','Arthrogryposis multiplex congenita','Multiple congenital contractures in different body areas.'),('HP:0002805','Accelerated bone age after puberty',''),('HP:0002808','Kyphosis','Exaggerated anterior convexity of the thoracic vertebral column.'),('HP:0002810','Dumbbell-shaped metaphyses',''),('HP:0002812','Coxa vara','Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.'),('HP:0002813','Abnormality of limb bone morphology','Any abnormality of bones of the arms or legs.'),('HP:0002814','Abnormality of the lower limb','An abnormality of the leg.'),('HP:0002815','Abnormality of the knee','An abnormality of the knee joint or surrounding structures.'),('HP:0002816','Genu recurvatum','An abnormally increased extension of the knee joint, so that the knee can bend backwards.'),('HP:0002817','Abnormality of the upper limb','An abnormality of the arm.'),('HP:0002818','Abnormality of the radius','An abnormality of the radius.'),('HP:0002821','Neuropathic arthropathy',''),('HP:0002822','Hyperplasia of the femoral trochanters',''),('HP:0002823','Abnormality of femur morphology','Any anomaly of the structure of the femur.'),('HP:0002825','Caudal appendage','The presence of a tail-like skin appendage located adjacent to the sacrum.'),('HP:0002826','Halberd-shaped pelvis','An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).'),('HP:0002827','Hip dislocation','Displacement of the femur from its normal location in the hip joint.'),('HP:0002828','Multiple joint contractures',''),('HP:0002829','Arthralgia','Joint pain.'),('HP:0002831','Long coccyx',''),('HP:0002832','Calcific stippling','An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).'),('HP:0002833','Cystic angiomatosis of bone','Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.'),('HP:0002834','Flared femoral metaphysis',''),('HP:0002835','Aspiration','Inspiration of a foreign object into the airway.'),('HP:0002836','Bladder exstrophy','Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.'),('HP:0002837','Recurrent bronchitis','An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.'),('HP:0002839','Urinary bladder sphincter dysfunction','Abnormal function of a sphincter of the urinary bladder.'),('HP:0002840','Lymphadenitis','Inflammation of a lymph node.'),('HP:0002841','Recurrent fungal infections','Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.'),('HP:0002842','Recurrent Burkholderia cepacia infections','Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.'),('HP:0002843','Abnormal T cell morphology','An abnormality of T cells.'),('HP:0002845','obsolete Increased proportion of peripheral CD3+ T cells',''),('HP:0002846','Abnormal B cell morphology','A structural abnormality of B cells.'),('HP:0002847','Impaired memory B cell generation','Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.'),('HP:0002848','Decreased specific anti-polysaccharide antibody level','The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.'),('HP:0002849','Absence of lymph node germinal center','Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.'),('HP:0002850','Decreased circulating total IgM','An abnormally decreased level of immunoglobulin M (IgM) in blood.'),('HP:0002851','Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells','An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.'),('HP:0002853','Increased proportion of HLA DR+ T cells','An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.'),('HP:0002857','Genu valgum','The legs angle inward, such that the knees are close together and the ankles far apart.'),('HP:0002858','Meningioma','The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.'),('HP:0002859','Rhabdomyosarcoma',''),('HP:0002860','Squamous cell carcinoma','The presence of squamous cell carcinoma of the skin.'),('HP:0002861','Melanoma','The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).'),('HP:0002862','Bladder carcinoma','The presence of a carcinoma of the urinary bladder.'),('HP:0002863','Myelodysplasia','Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.'),('HP:0002864','Paraganglioma of head and neck',''),('HP:0002865','Medullary thyroid carcinoma','The presence of a medullary carcinoma of the thyroid gland.'),('HP:0002866','Hypoplastic iliac wing','Underdevelopment of the ilium ala.'),('HP:0002867','Abnormality of the ilium','An abnormality of the ilium, the largest and uppermost bone of the pelvis.'),('HP:0002868','Narrow iliac wings','Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).'),('HP:0002869','Flared iliac wings','Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.'),('HP:0002870','Obstructive sleep apnea','A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.'),('HP:0002871','Central apnea','Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.'),('HP:0002872','Apneic episodes precipitated by illness, fatigue, stress','Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.'),('HP:0002875','Exertional dyspnea',''),('HP:0002876','Episodic tachypnea','Episodes of very rapid breathing.'),('HP:0002877','Nocturnal hypoventilation',''),('HP:0002878','Respiratory failure','A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.'),('HP:0002879','Anisospondyly','Abnormally increased variability of the size of the vertebral bodies.'),('HP:0002880','obsolete Respiratory difficulties',''),('HP:0002882','Sudden episodic apnea','Recurrent bouts of sudden, severe apnea that may be life-threatening.'),('HP:0002883','Hyperventilation','Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.'),('HP:0002884','Hepatoblastoma','A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.'),('HP:0002885','Medulloblastoma','A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.'),('HP:0002886','Vagal paraganglioma','A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.'),('HP:0002888','Ependymoma','The presence of an ependymoma of the central nervous system.'),('HP:0002890','Thyroid carcinoma','The presence of a carcinoma of the thyroid gland.'),('HP:0002891','Uterine leiomyosarcoma','The presence of a leiomyosarcoma of the uterus.'),('HP:0002893','Pituitary adenoma','A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.'),('HP:0002894','Neoplasm of the pancreas','A tumor (abnormal growth of tissue) of the pancreas.'),('HP:0002895','Papillary thyroid carcinoma','The presence of a papillary adenocarcinoma of the thyroid gland.'),('HP:0002896','Neoplasm of the liver','A tumor (abnormal growth of tissue) of the liver.'),('HP:0002897','Parathyroid adenoma','A benign tumor of the parathyroid gland that can cause hyperparathyroidism.'),('HP:0002898','Embryonal neoplasm',''),('HP:0002900','Hypokalemia','An abnormally decreased potassium concentration in the blood.'),('HP:0002901','Hypocalcemia','An abnormally decreased calcium concentration in the blood.'),('HP:0002902','Hyponatremia','An abnormally decreased sodium concentration in the blood.'),('HP:0002904','Hyperbilirubinemia','An increased amount of bilirubin in the blood.'),('HP:0002905','Hyperphosphatemia','An abnormally increased phosphate concentration in the blood.'),('HP:0002907','Microscopic hematuria','Microscopic hematuria detected by dipstick or microscopic examination of the urine.'),('HP:0002908','Conjugated hyperbilirubinemia',''),('HP:0002909','Generalized aminoaciduria','An increased concentration of all types of amino acid in the urine.'),('HP:0002910','Elevated hepatic transaminase','Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.'),('HP:0002912','Methylmalonic acidemia','Increased concentration of methylmalonic acid in the blood.'),('HP:0002913','Myoglobinuria','Presence of myoglobin in the urine.'),('HP:0002914','Hyperchloriduria','An increased concentration of chloride in the urine.'),('HP:0002916','Abnormality of chromosome segregation','An abnormality of chromosome segregation.'),('HP:0002917','Hypomagnesemia','An abnormally decreased magnesium concentration in the blood.'),('HP:0002918','Hypermagnesemia','An abnormally increased magnesium concentration in the blood.'),('HP:0002919','Ketonuria','High levels of ketone bodies in the urine.'),('HP:0002920','Decreased circulating ACTH level','An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.'),('HP:0002921','Abnormality of the cerebrospinal fluid','An abnormality of the cerebrospinal fluid (CSF).'),('HP:0002922','Increased CSF protein','Increased concentration of protein in the cerebrospinal fluid.'),('HP:0002923','Rheumatoid factor positive','The presence in the serum of an autoantibody directed against the Fc portion of IgG.'),('HP:0002924','obsolete Decreased circulating aldosterone level',''),('HP:0002925','Increased thyroid-stimulating hormone level','Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.'),('HP:0002926','Abnormality of thyroid physiology','An abnormal functionality of the thyroid gland.'),('HP:0002927','Histidinuria','An increased concentration of histidine in the urine.'),('HP:0002928','Decreased activity of the pyruvate dehydrogenase complex',''),('HP:0002929','Leydig cell insensitivity to gonadotropin',''),('HP:0002930','Impaired sensitivity to thyroid hormone','Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.'),('HP:0002932','Aldehyde oxidase deficiency','A reduction in aldehyde oxidase level.'),('HP:0002933','Ventral hernia','Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.'),('HP:0002936','Distal sensory impairment','An abnormal reduction in sensation in the distal portions of the extremities.'),('HP:0002937','Hemivertebrae','Absence of one half of the vertebral body.'),('HP:0002938','Lumbar hyperlordosis','An abnormal accentuation of the inward curvature of the spine in the lumbar region.'),('HP:0002942','Thoracic kyphosis','Over curvature of the thoracic region, leading to a round back or if sever to a hump.'),('HP:0002943','Thoracic scoliosis',''),('HP:0002944','Thoracolumbar scoliosis',''),('HP:0002945','Intervertebral space narrowing','Decreased height of the intervertebral disk.'),('HP:0002946','Supernumerary vertebrae',''),('HP:0002947','Cervical kyphosis','Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.'),('HP:0002948','Vertebral fusion','A developmental defect leading to the union of two adjacent vertebrae.'),('HP:0002949','Fused cervical vertebrae','A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.'),('HP:0002951','Partial absence of cerebellar vermis','Congenital absence of a part of the vermis of cerebellum.'),('HP:0002953','Vertebral compression fractures',''),('HP:0002955','Granulomatosis','A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.'),('HP:0002958','Immune dysregulation','Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.'),('HP:0002959','Impaired Ig class switch recombination','An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.'),('HP:0002960','Autoimmunity','The occurrence of an immune reaction against the organism`s own cells or tissues.'),('HP:0002961','Dysgammaglobulinemia','Selective deficiency of one or more, but not all, classes of immunoglobulins.'),('HP:0002963','Abnormal delayed hypersensitivity skin test','Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.'),('HP:0002965','Cutaneous anergy','Inability to react to a delayed hypersensitivity skin test.'),('HP:0002967','Cubitus valgus','Abnormal positioning in which the elbows are turned out.'),('HP:0002970','Genu varum','A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.'),('HP:0002971','Absent microvilli on the surface of peripheral blood lymphocytes','Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.'),('HP:0002972','Reduced delayed hypersensitivity','Decreased ability to react to a delayed hypersensitivity skin test.'),('HP:0002973','Abnormality of the forearm','An abnormality of the lower arm.'),('HP:0002974','Radioulnar synostosis','An abnormal osseous union (fusion) between the radius and the ulna.'),('HP:0002977','Aplasia/Hypoplasia involving the central nervous system','Absence or underdevelopment of tissue in the central nervous system.'),('HP:0002979','Bowing of the legs','A bending or abnormal curvature affecting a long bone of the leg.'),('HP:0002980','Femoral bowing','Bowing (abnormal curvature) of the femur.'),('HP:0002981','Abnormality of the calf','An abnormality of the calf, i.e. of the posterior part of the lower leg.'),('HP:0002982','Tibial bowing','A bending or abnormal curvature of the tibia.'),('HP:0002983','Micromelia','The presence of abnormally small extremities.'),('HP:0002984','Hypoplasia of the radius','Underdevelopment of the radius.'),('HP:0002986','Radial bowing','A bending or abnormal curvature of the radius.'),('HP:0002987','Elbow flexion contracture','A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.'),('HP:0002990','Fibular aplasia','Absence of the fibula.'),('HP:0002991','Abnormality of fibula morphology','An anomaly of the calf bone (fibula), one of the two bones of the calf.'),('HP:0002992','Abnormality of tibia morphology','Abnormality of the tibia (shinbone).'),('HP:0002996','Limited elbow movement',''),('HP:0002997','Abnormality of the ulna','An abnormality of the ulna bone of the forearm.'),('HP:0002999','Patellar dislocation','The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.'),('HP:0003001','Glomus jugular tumor',''),('HP:0003002','Breast carcinoma','The presence of a carcinoma of the breast.'),('HP:0003003','Colon cancer',''),('HP:0003005','Ganglioneuroma','A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.'),('HP:0003006','Neuroblastoma','Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.'),('HP:0003009','Enhanced neurotoxicity of vincristine',''),('HP:0003010','Prolonged bleeding time','Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.'),('HP:0003011','Abnormality of the musculature','Abnormality originating in one or more muscles, i.e., of the set of muscles of body.'),('HP:0003013','Bulging epiphyses','A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).'),('HP:0003015','Flared metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.'),('HP:0003016','Metaphyseal widening','Abnormal widening of the metaphyseal regions of long bones.'),('HP:0003019','Abnormality of the wrist','Abnormality of the wrist, the structure connecting the hand and the forearm.'),('HP:0003020','Enlargement of the wrists',''),('HP:0003021','Metaphyseal cupping','Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.'),('HP:0003022','Hypoplasia of the ulna','Underdevelopment of the ulna.'),('HP:0003023','Bowing of limbs due to multiple fractures','Curvature of the shafts of the long bones due to multiple fractures.'),('HP:0003025','Metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphyses.'),('HP:0003026','Short long bone','One or more abnormally short long bone.'),('HP:0003027','Mesomelia','Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.'),('HP:0003028','Abnormality of the ankles',''),('HP:0003029','Enlargement of the ankles',''),('HP:0003031','Ulnar bowing','Bending of the diaphysis (shaft) of the ulna.'),('HP:0003034','Diaphyseal sclerosis','An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0003037','Enlarged joints','Increase in size of one or more joints.'),('HP:0003038','Fibular hypoplasia','Underdevelopment of the fibula.'),('HP:0003040','Arthropathy',''),('HP:0003041','Humeroradial synostosis','An abnormal osseous union (fusion) between the radius and the humerus.'),('HP:0003042','Elbow dislocation','Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.'),('HP:0003043','Abnormality of the shoulder','An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.'),('HP:0003044','Shoulder flexion contracture','Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0003045','Abnormal patella morphology','Abnormality of the patella (knee cap).'),('HP:0003048','Radial head subluxation','Partial dislocation of the head of the radius.'),('HP:0003049','Ulnar deviation of the wrist',''),('HP:0003051','Enlarged metaphyses','Abnormal increase in size of one or more metaphyses.'),('HP:0003053','Epiphyseal deformities of tubular bones',''),('HP:0003057','Tetraamelia','Amelia of all four limbs.'),('HP:0003059','Abnormality of the radioulnar joints',''),('HP:0003063','Abnormality of the humerus','An abnormality of the humerus (i.e., upper arm bone).'),('HP:0003065','Patellar hypoplasia','Underdevelopment of the patella.'),('HP:0003066','Limited knee extension',''),('HP:0003067','Madelung deformity','An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.'),('HP:0003068','Madelung-like forearm deformities',''),('HP:0003070','Elbow ankylosis',''),('HP:0003071','Flattened epiphysis','Abnormal flatness (decreased height) of epiphyses.'),('HP:0003072','Hypercalcemia','An abnormally increased calcium concentration in the blood.'),('HP:0003073','Hypoalbuminemia','Reduction in the concentration of albumin in the blood.'),('HP:0003074','Hyperglycemia','An increased concentration of glucose in the blood.'),('HP:0003075','Hypoproteinemia','A decreased concentration of protein in the blood.'),('HP:0003076','Glycosuria','An increased concentration of glucose in the urine.'),('HP:0003077','Hyperlipidemia','An elevated lipid concentration in the blood.'),('HP:0003079','Defective DNA repair after ultraviolet radiation damage',''),('HP:0003080','Hydroxyprolinuria','An increased concentration of 4-hydroxy-L-proline in the urine.'),('HP:0003081','Increased urinary potassium','An increased concentration of potassium(1+) in the urine.'),('HP:0003083','Dislocated radial head','A dislocation of the head of the radius from its socket in the elbow joint.'),('HP:0003084','Fractures of the long bones','An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna).'),('HP:0003085','Long fibula','Disproportionately long fibulae.'),('HP:0003086','Acromesomelia','Small hands and feet.'),('HP:0003088','Premature osteoarthritis',''),('HP:0003089','Hamstring contractures',''),('HP:0003090','Hypoplasia of the capital femoral epiphysis','Underdevelopment of the proximal epiphysis of the femur.'),('HP:0003091','Trophic limb changes','Trophic changes occurring in a limb.'),('HP:0003093','Limited hip extension','Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.'),('HP:0003095','Septic arthritis',''),('HP:0003097','Short femur','An abnormal shortening of the femur.'),('HP:0003099','Fibular overgrowth','Relatively increased growth of the fibula compared to that of the tibia.'),('HP:0003100','Slender long bone','Reduced diameter of a long bone.'),('HP:0003102','Increased carrying angle','An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.'),('HP:0003103','Abnormal cortical bone morphology','An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.'),('HP:0003105','Protuberances at ends of long bones','The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.'),('HP:0003106','Subperiosteal bone resorption','Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.'),('HP:0003107','Abnormal circulating cholesterol concentration','Any deviation from the normal concentration of cholesterol in the blood circulation.'),('HP:0003108','Hyperglycinuria','An increased concentration of glycine in the urine.'),('HP:0003109','Hyperphosphaturia','An increased excretion of phosphates in the urine.'),('HP:0003110','Abnormality of urine homeostasis','An abnormality of the composition of urine or the levels of its components.'),('HP:0003111','Abnormal blood ion concentration','Abnormality of the homeostasis (concentration) of a monoatomic ion.'),('HP:0003112','Abnormality of serum amino acid level','The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.'),('HP:0003113','Hypochloremia','An abnormally decreased chloride concentration in the blood.'),('HP:0003114','obsolete Abnormal cardiological findings',''),('HP:0003115','Abnormal EKG','Abnormal rhythm of the heart.'),('HP:0003116','Abnormal echocardiogram','An abnormality detectable by sonography of the heart (echocardiography).'),('HP:0003117','Abnormal circulating hormone level','An abnormal concentration of a hormone in the blood.'),('HP:0003118','Increased circulating cortisol level','Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.'),('HP:0003119','Abnormal circulating lipid concentration','An abnormality in the of lipid metabolism.'),('HP:0003121','Limb joint contracture','A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.'),('HP:0003124','Hypercholesterolemia','An increased concentration of cholesterol in the blood.'),('HP:0003125','Reduced factor VIII activity','Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.'),('HP:0003126','Low-molecular-weight proteinuria','Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).'),('HP:0003127','Hypocalciuria','An abnormally decreased calcium concentration in the urine.'),('HP:0003128','Lactic acidosis','An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.'),('HP:0003130','Abnormal peripheral myelination','An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.'),('HP:0003131','Cystinuria','An increased concentration of cystine in the urine.'),('HP:0003133','Abnormality of the spinocerebellar tracts','An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.'),('HP:0003134','Abnormality of peripheral nerve conduction','An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).'),('HP:0003137','Prolinuria','An increased concentration of proline in the urine.'),('HP:0003138','Increased blood urea nitrogen','An increased amount of nitrogen in the form of urea in the blood.'),('HP:0003139','Panhypogammaglobulinemia','A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.'),('HP:0003140','T-wave inversion in the right precordial leads',''),('HP:0003141','Increased LDL cholesterol concentration','An elevated concentration of low-density lipoprotein cholesterol in the blood.'),('HP:0003142','Excessive purine production',''),('HP:0003144','Increased serum serotonin','A increased concentration of serotonin in the blood.'),('HP:0003145','Decreased adenosylcobalamin','Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.'),('HP:0003146','Hypocholesterolemia','An decreased concentration of cholesterol in the blood.'),('HP:0003148','Elevated serum acid phosphatase',''),('HP:0003149','Hyperuricosuria','An abnormally high level of uric acid in the urine.'),('HP:0003150','Glutaric aciduria','An increased concentration of glutaric acid in the urine.'),('HP:0003152','obsolete Increased serum 1,25-dihydroxyvitamin D3',''),('HP:0003153','Cystathioninuria','An elevated urinary concentration of cystathionine.'),('HP:0003154','Increased circulating ACTH level','An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.'),('HP:0003155','Elevated alkaline phosphatase','Abnormally increased serum levels of alkaline phosphatase activity.'),('HP:0003158','Hyposthenuria','An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.'),('HP:0003159','Hyperoxaluria','Increased excretion of oxalates in the urine.'),('HP:0003160','Abnormal isoelectric focusing of serum transferrin','Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.'),('HP:0003161','4-Hydroxyphenylpyruvic aciduria','Increased concentration of pyruvic acid in the urine.'),('HP:0003162','Fasting hypoglycemia',''),('HP:0003163','Elevated urinary delta-aminolevulinic acid','An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.'),('HP:0003164','Hypothalamic gonadotropin-releasing hormone deficiency',''),('HP:0003165','Elevated circulating parathyroid hormone level','An abnormal increased concentration of parathyroid hormone.'),('HP:0003166','Increased urinary taurine','Increased concentration of taurine in the urine.'),('HP:0003167','Carnosinuria','An increased concentration of carnosine in the urine.'),('HP:0003168','Dibasicaminoaciduria',''),('HP:0003170','Abnormality of the acetabulum','An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.'),('HP:0003172','Abnormality of the pubic bone','An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.'),('HP:0003173','Hypoplastic pubic bone','Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.'),('HP:0003174','Abnormality of the ischium','An anomaly of the ischium, which forms the lower and back part of the hip bone.'),('HP:0003175','Hypoplastic ischia','Underdevelopment of the ischium, which forms the lower and back part of the hip bone.'),('HP:0003177','Squared iliac bones','A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.'),('HP:0003179','Protrusio acetabuli','Intrapelvic bulging of the medial acetabular wall.'),('HP:0003180','Flat acetabular roof','Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.'),('HP:0003182','Shallow acetabular fossae',''),('HP:0003183','Wide pubic symphysis','Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.'),('HP:0003184','Decreased hip abduction','Reduced ability to move the femur outward to the side.'),('HP:0003185','Short greater sciatic notch','The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.'),('HP:0003186','Inverted nipples','The presence of nipples that instead of pointing outward are retracted inwards.'),('HP:0003187','Breast hypoplasia','Underdevelopment of the breast.'),('HP:0003189','Long nose','Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.'),('HP:0003191','Cleft ala nasi','The presence of a notch in the margin of the ala nasi.'),('HP:0003193','Allergic rhinitis','It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.'),('HP:0003194','Short nasal bridge',''),('HP:0003196','Short nose','Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.'),('HP:0003198','Myopathy','A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.'),('HP:0003199','Decreased muscle mass',''),('HP:0003200','Ragged-red muscle fibers','An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.'),('HP:0003201','Rhabdomyolysis','Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.'),('HP:0003202','Skeletal muscle atrophy','The presence of skeletal muscular atrophy (which is also known as amyotrophy).'),('HP:0003203','Impaired oxidative burst','In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.'),('HP:0003204','Intracellular accumulation of autofluorescent lipopigment storage material','The intracellular accumulation of autofluorescent storage material.'),('HP:0003205','Curvilinear intracellular accumulation of autofluorescent lipopigment storage material','An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.'),('HP:0003206','Decreased activity of NADPH oxidase',''),('HP:0003207','Arterial calcification','Pathological deposition of calcium salts in one or more arteries.'),('HP:0003208','Fingerprint intracellular accumulation of autofluorescent lipopigment storage material','An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.'),('HP:0003209','Decreased pyruvate carboxylase activity','A decreased rate of pyruvate carboxylase activity.'),('HP:0003210','Decreased methylmalonyl-CoA mutase activity','An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.'),('HP:0003212','Increased circulating IgE level','An abnormally increased overall level of immunoglobulin E in blood.'),('HP:0003213','Deficient excision of UV-induced pyrimidine dimers in DNA',''),('HP:0003214','Prolonged G2 phase of cell cycle',''),('HP:0003215','Dicarboxylic aciduria','An increased concentration of dicarboxylic acid in the urine.'),('HP:0003216','Generalized amyloid deposition','A diffuse form of amyloidosis.'),('HP:0003217','Hyperglutaminemia','An increased concentration of glutamine in the blood.'),('HP:0003218','Oroticaciduria','An increased concentration of orotic acid in the urine.'),('HP:0003219','Ethylmalonic aciduria','An increased concentration of ethylmalonic acid in the urine.'),('HP:0003220','Abnormality of chromosome stability','A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.'),('HP:0003221','Chromosomal breakage induced by crosslinking agents','Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.'),('HP:0003223','Decreased methylcobalamin','Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.'),('HP:0003224','Increased cellular sensitivity to UV light',''),('HP:0003225','Reduced coagulation factor V activity','Decreased activity of coagulation factor V.'),('HP:0003226','Rectilinear intracellular accumulation of autofluorescent lipopigment storage material','An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.'),('HP:0003228','Hypernatremia','An abnormally increased sodium concentration in the blood.'),('HP:0003231','Hypertyrosinemia','An increased concentration of tyrosine in the blood.'),('HP:0003232','Mitochondrial malic enzyme reduced',''),('HP:0003233','Decreased HDL cholesterol concentration','An decreased concentration of high-density lipoprotein cholesterol in the blood.'),('HP:0003234','Decreased plasma carnitine','A decreased concentration of carnitine in the blood.'),('HP:0003235','Hypermethioninemia','An increased concentration of methionine in the blood.'),('HP:0003236','Elevated serum creatine kinase','An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.'),('HP:0003237','Increased circulating IgG level','An abnormally increased level of immunoglobulin G in blood.'),('HP:0003238','Hyperpepsinogenemia I',''),('HP:0003239','Phosphoethanolaminuria','An increased concentration of phosphoethanolamine in the urine.'),('HP:0003240','Increased phosphoribosylpyrophosphate synthetase level','Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.'),('HP:0003241','External genital hypoplasia','Underdevelopment of part or all of the external reproductive organs.'),('HP:0003244','Penile hypospadias','Location of the urethral opening on the inferior aspect of the penis.'),('HP:0003246','Prominent scrotal raphe','Increased size of the ridge of tissue that extends along the midline of the scrotum.'),('HP:0003247','Overgrowth of external genitalia',''),('HP:0003248','Gonadal tissue inappropriate for external genitalia or chromosomal sex',''),('HP:0003249','Genital ulcers',''),('HP:0003250','Aplasia of the vagina','Aplasia of the vagina.'),('HP:0003251','Male infertility',''),('HP:0003252','Anteriorly displaced genitalia',''),('HP:0003254','Abnormality of DNA repair','An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.'),('HP:0003256','Abnormality of the coagulation cascade','An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.'),('HP:0003258','Glyoxalase deficiency',''),('HP:0003259','Elevated serum creatinine','An increased amount of creatinine in the blood.'),('HP:0003260','Hydroxyprolinemia','An increased concentration of hydroxyproline in the blood.'),('HP:0003261','Increased circulating IgA level','An abnormally increased level of immunoglobulin A in blood.'),('HP:0003262','Smooth muscle antibody positivity','The presence in serum of antibodies against smooth muscle.'),('HP:0003264','Deficiency of N-acetylglucosamine-1-phosphotransferase',''),('HP:0003265','Neonatal hyperbilirubinemia','A type of hyperbilirubinemia with neonatal onset.'),('HP:0003267','Reduced orotidine 5-prime phosphate decarboxylase level','An abnormal decrease in orotidine 5`-phosphate decarboxylase level.'),('HP:0003268','Argininuria','A increased concentration of arginine in the urine.'),('HP:0003269','Sudanophilic leukodystrophy',''),('HP:0003270','Abdominal distention','Distention of the abdomen.'),('HP:0003271','Visceromegaly','Abnormal increased size of the viscera of the abdomen.'),('HP:0003272','Abnormality of the hip bone','An abnormality of the hip bone.'),('HP:0003273','Hip contracture',''),('HP:0003274','Hypoplastic acetabulae','Underdeveloped acetabulae.'),('HP:0003275','Narrow pelvis bone','Reduced side to side width of the pelvis.'),('HP:0003276','Pelvic bone exostoses','A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.'),('HP:0003277','Constricted iliac wings',''),('HP:0003278','Square pelvis bone','An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.'),('HP:0003279','Coxa magna','Widening of the femoral head and neck.'),('HP:0003281','Increased serum ferritin','Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.'),('HP:0003282','Low alkaline phosphatase','Abnormally reduced serum levels of alkaline phosphatase.'),('HP:0003286','Cystathioninemia','An increased concentration of cystathionine in the blood.'),('HP:0003287','Abnormality of mitochondrial metabolism','A functional anomaly of mitochondria.'),('HP:0003288','Mitochondrial propionyl-CoA carboxylase defect',''),('HP:0003292','Decreased serum leptin','A decreased concentration of leptin in the blood.'),('HP:0003295','obsolete Impaired FSH and LH secretion',''),('HP:0003296','Hyperthreoninuria','An increased concentration of threonine in the urine.'),('HP:0003297','Hyperlysinuria','An increased concentration of lysine in the urine.'),('HP:0003298','Spina bifida occulta','The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.'),('HP:0003300','Ovoid vertebral bodies','When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.'),('HP:0003301','Irregular vertebral endplates','An irregular surface of the vertebral end plates, which are normally relatively smooth.'),('HP:0003302','Spondylolisthesis','Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.'),('HP:0003304','Spondylolysis','Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.'),('HP:0003305','Block vertebrae','Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).'),('HP:0003306','Spinal rigidity','Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.'),('HP:0003307','Hyperlordosis','Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.'),('HP:0003308','Cervical subluxation','A partial dislocation of one or more intervertebral joints in the cervical vertebral column.'),('HP:0003309','Ovoid thoracolumbar vertebrae',''),('HP:0003310','Abnormality of the odontoid process','Abnormality of the dens of the axis, which is also known as the odontoid process.'),('HP:0003311','Hypoplasia of the odontoid process','Developmental hypoplasia of the dens of the axis.'),('HP:0003312','Abnormal form of the vertebral bodies','Abnormal morphology of vertebral body.'),('HP:0003316','Butterfly vertebrae','In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra.'),('HP:0003318','Cervical spine hypermobility',''),('HP:0003319','Abnormality of the cervical spine','Any abnormality of the cervical vertebral column.'),('HP:0003320','C1-C2 subluxation','A partial dislocation of the atlantoaxial joints.'),('HP:0003321','Biconcave flattened vertebrae',''),('HP:0003323','Progressive muscle weakness',''),('HP:0003324','Generalized muscle weakness','Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.'),('HP:0003325','Limb-girdle muscle weakness','Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.'),('HP:0003326','Myalgia','Pain in muscle.'),('HP:0003327','Axial muscle weakness','Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).'),('HP:0003328','Abnormal hair laboratory examination',''),('HP:0003329','Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes',''),('HP:0003330','Abnormal bone structure','Any anomaly in the composite material or the layered arrangement of the bony skeleton.'),('HP:0003332','Absent primary metaphyseal spongiosa',''),('HP:0003333','Increased serum beta-hexosaminidase',''),('HP:0003334','Elevated circulating catecholamine level','An abnormal increase in catecholamine concentration in the blood.'),('HP:0003335','obsolete Low gonadotropins (secondary hypogonadism)',''),('HP:0003336','Abnormal enchondral ossification','An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.'),('HP:0003337','Reduced prothrombin consumption','The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.'),('HP:0003338','Focal necrosis of right ventricular muscle cells',''),('HP:0003339','Pyrimidine-responsive megaloblastic anemia','A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.'),('HP:0003340','obsolete Abnormal dermatological laboratory findings',''),('HP:0003341','Junctional split','The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.'),('HP:0003343','Reduced glutathione synthetase level','Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.'),('HP:0003344','3-Methylglutaric aciduria',''),('HP:0003345','Elevated urinary norepinephrine','An increased concentration of noradrenaline in the urine.'),('HP:0003347','Impaired lymphocyte transformation with phytohemagglutinin','Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.'),('HP:0003348','Hyperalaninemia','An increased concentration of alanine in the blood.'),('HP:0003349','Low cholesterol esterification rate','A reduction in the rate of cholesterol esterification.'),('HP:0003351','Decreased circulating renin level','An decreased level of renin in the blood.'),('HP:0003352','Endopolyploidy on chromosome studies of bone marrow','An increase in the number of chromosome sets per cell in bone marrow cells.'),('HP:0003353','Propionyl-CoA carboxylase deficiency','An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.'),('HP:0003354','Hyperthreoninemia','An increased concentration of threonine in the blood.'),('HP:0003355','Aminoaciduria','An increased concentration of an amino acid in the urine.'),('HP:0003357','Thymic hormone decreased','A reduction in the level of thymic horomone.'),('HP:0003358','Elevated intracellular cystine','An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.'),('HP:0003359','Decreased urinary sulfate','Decreased concentration of sulfate in the urine.'),('HP:0003361','Tryptophanuria','An increased concentration of tryptophan in the urine.'),('HP:0003362','Increased VLDL cholesterol concentration','An increase in the amount of very-low-density lipoprotein cholesterol in the blood.'),('HP:0003363','Abdominal situs inversus','A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen.'),('HP:0003365','Arthralgia of the hip','Joint pain affecting the hip.'),('HP:0003366','Abnormality of the femoral neck or head region',''),('HP:0003367','Abnormality of the femoral neck','An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0003368','Abnormality of the femoral head','An abnormality of the femoral head.'),('HP:0003370','Flat capital femoral epiphysis','An abnormal flattening of the proximal epiphysis of the femur.'),('HP:0003371','Enlargement of the proximal femoral epiphysis','An abnormal enlargement of the proximal epiphysis of the femur.'),('HP:0003375','Narrow greater sciatic notch','A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.'),('HP:0003376','Steppage gait','An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.'),('HP:0003378','Axonal degeneration/regeneration','A pattern of simultaneous degeneration and regeneration of axons (see comment).'),('HP:0003380','Decreased number of peripheral myelinated nerve fibers','A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).'),('HP:0003382','Hypertrophic nerve changes',''),('HP:0003383','Onion bulb formation','Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.'),('HP:0003384','Peripheral axonal atrophy','Atrophic changes of axons of the peripheral nervous system.'),('HP:0003387','Decreased number of large peripheral myelinated nerve fibers','A reduced number of large myelinated nerve fibers.'),('HP:0003388','Easy fatigability','Increased susceptibility to fatigue.'),('HP:0003390','Sensory axonal neuropathy','An axonal neuropathy of peripheral sensory nerves.'),('HP:0003391','Gowers sign','A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.'),('HP:0003392','First dorsal interossei muscle weakness',''),('HP:0003393','Thenar muscle atrophy','Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.'),('HP:0003394','Muscle spasm','Sudden and involuntary contractions of one or more muscles.'),('HP:0003396','Syringomyelia','Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.'),('HP:0003397','Generalized hypotonia due to defect at the neuromuscular junction',''),('HP:0003398','Abnormal synaptic transmission at the neuromuscular junction','Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.'),('HP:0003400','Basal lamina onion bulb formation','A type of onion bulb formation prominently affecting the area of the basal lamina.'),('HP:0003401','Paresthesia','Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.'),('HP:0003402','Decreased miniature endplate potentials','An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.'),('HP:0003403','EMG: decremental response of compound muscle action potential to repetitive nerve stimulation','A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.'),('HP:0003405','Diffuse axonal swelling',''),('HP:0003406','Peripheral nerve compression',''),('HP:0003409','Distal sensory impairment of all modalities',''),('HP:0003411','Proximal femoral metaphyseal irregularity','Irregularity of the normally smooth surface of the proximal metaphysis of the femur.'),('HP:0003413','Atlantoaxial abnormality','An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.'),('HP:0003414','Atlantoaxial dislocation','Partial dislocation of the atlantoaxial joint.'),('HP:0003416','Spinal canal stenosis','An abnormal narrowing of the spinal canal.'),('HP:0003417','Coronal cleft vertebrae','Frontal schisis (cleft or cleavage) of vertebral bodies.'),('HP:0003418','Back pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.'),('HP:0003419','Low back pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.'),('HP:0003421','obsolete Platyspondyly (childhood)',''),('HP:0003422','Vertebral segmentation defect','An abnormality related to a defect of vertebral separation during development.'),('HP:0003423','Thoracolumbar kyphoscoliosis',''),('HP:0003426','First dorsal interossei muscle atrophy',''),('HP:0003427','Thenar muscle weakness',''),('HP:0003429','CNS hypomyelination','Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.'),('HP:0003431','Decreased motor nerve conduction velocity','A type of decreased nerve conduction velocity that affects the motor neuron.'),('HP:0003434','Sensory ataxic neuropathy',''),('HP:0003435','Cold-induced hand cramps',''),('HP:0003436','Prolonged miniature endplate currents','An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.'),('HP:0003438','Absent Achilles reflex','Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.'),('HP:0003440','Horizontal sacrum',''),('HP:0003443','Decreased size of nerve terminals','A reduction in the size of nerve terminals.'),('HP:0003444','EMG: chronic denervation signs','Evidence of chronic denervation on electromyography.'),('HP:0003445','EMG: neuropathic changes','The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).'),('HP:0003447','Axonal loss','A reduction in the number of axons in the peripheral nervous system.'),('HP:0003448','Decreased sensory nerve conduction velocity','Reduced speed of conduction of the action potential along a sensory nerve.'),('HP:0003449','Cold-induced muscle cramps','Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.'),('HP:0003450','Axonal regeneration','The presence of axonal regeneration following a previous axonal lesion.'),('HP:0003451','Increased rate of premature chromosome condensation','An increased rate of premature chromosome condensation.'),('HP:0003452','Increased serum iron',''),('HP:0003453','Antineutrophil antibody positivity','The presence of autoantibodies in the serum that react against neutrophils.'),('HP:0003454','Platelet antibody positive','The presence in the serum of autoantibodies directed against thrombocytes.'),('HP:0003455','Elevated circulating long chain fatty acid concentration','Increased concentration of long-chain fatty acids in the blood circulation.'),('HP:0003456','Low urinary cyclic AMP response to PTH administration',''),('HP:0003457','EMG abnormality','Abnormal results of investigations using electromyography (EMG).'),('HP:0003458','EMG: myopathic abnormalities','The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.'),('HP:0003459','Polyclonal elevation of IgM','A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.'),('HP:0003460','Decreased circulating total IgA','Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).'),('HP:0003461','Increased urinary O-linked sialopeptides','Excretion of peptides conjugated to sialic acid in the urine.'),('HP:0003462','Elevated 8-dehydrocholesterol',''),('HP:0003463','Increased extraneuronal autofluorescent lipopigment','Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.'),('HP:0003464','obsolete Abnormal cholesterol homeostasis',''),('HP:0003465','Elevated 8(9)-cholestenol',''),('HP:0003466','Paradoxical increased cortisol secretion on dexamethasone suppression test',''),('HP:0003467','Atlantoaxial instability','Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.'),('HP:0003468','Abnormal vertebral morphology','An abnormality of one or more of the vertebrae.'),('HP:0003469','Peripheral dysmyelination','Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.'),('HP:0003470','Paralysis','Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.'),('HP:0003472','Hypocalcemic tetany','Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.'),('HP:0003473','Fatigable weakness','A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0003474','Sensory impairment','An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.'),('HP:0003477','Peripheral axonal neuropathy','An abnormality characterized by disruption of the normal functioning of peripheral axons.'),('HP:0003481','Segmental peripheral demyelination/remyelination','A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.'),('HP:0003482','EMG: axonal abnormality','Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.'),('HP:0003484','Upper limb muscle weakness','Weakness of the muscles of the arms.'),('HP:0003487','Babinski sign','Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.'),('HP:0003489','Acute episodes of neuropathic symptoms',''),('HP:0003490','obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA',''),('HP:0003491','Elevated urine pyrophosphate','An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.'),('HP:0003492','High urinary gonadotropin level','An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.'),('HP:0003493','Antinuclear antibody positivity','The presence of autoantibodies in the serum that react against nuclei or nuclear components.'),('HP:0003494','obsolete Loss of heterozygosity, multiple chromosomes',''),('HP:0003495','GM2-ganglioside accumulation','Cellular accumulation of GM2 gangliosides.'),('HP:0003496','Increased circulating IgM level','An abnormally increased level of immunoglobulin M in blood.'),('HP:0003498','Disproportionate short stature','A kind of short stature in which different regions of the body are shortened to differing extents.'),('HP:0003502','Mild short stature','A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.'),('HP:0003508','Proportionate short stature','A kind of short stature in which different regions of the body are shortened to a comparable extent.'),('HP:0003510','Severe short stature','A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.'),('HP:0003513','Reduced ratio of renal calcium clearance to creatinine clearance','A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.'),('HP:0003514','Deficiency or absence of cytochrome b(-245)',''),('HP:0003517','Birth length greater than 97th percentile',''),('HP:0003521','Disproportionate short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.'),('HP:0003524','Decreased methionine synthase activity','A reduction in methionine synthase activity.'),('HP:0003526','Orotic acid crystalluria','Formation of crystals owing to an increased concentration of orotic acid in the urine.'),('HP:0003527','Hyperprostaglandinuria','An increased concentration of prostaglandin in the urine.'),('HP:0003528','Elevated calcitonin',''),('HP:0003529','Parathormone-independent increased renal tubular calcium reabsorption','An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.'),('HP:0003530','Glutaric acidemia','An increased concentration of glutaric acid in the blood.'),('HP:0003532','Ornithinuria','An increased concentration of ornithine in the urine.'),('HP:0003533','Reduced acetaldehyde dehydrogenase level','Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.'),('HP:0003534','Reduced xanthine dehydrogenase level','An abnormal reduction in xanthine dehydrogenase level.'),('HP:0003535','3-Methylglutaconic aciduria','An increased amount of 3-methylglutaconic acid in the urine.'),('HP:0003536','Decreased fumarate hydratase activity','An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.'),('HP:0003537','Hypouricemia','An abnormally low level of uric acid in the blood.'),('HP:0003538','Increased serum iduronate sulfatase level','An increased level of iduronate-2-sulfatase activity in the blood.'),('HP:0003540','Impaired platelet aggregation','An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.'),('HP:0003541','Urinary glycosaminoglycan excretion','Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.'),('HP:0003542','Increased serum pyruvate','An increased concentration of pyruvate in the blood.'),('HP:0003546','Exercise intolerance','A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.'),('HP:0003547','Shoulder girdle muscle weakness','The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.'),('HP:0003548','Subsarcolemmal accumulations of abnormally shaped mitochondria','An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.'),('HP:0003549','Abnormality of connective tissue','Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).'),('HP:0003550','Predominantly lower limb lymphedema','Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.'),('HP:0003551','Difficulty climbing stairs','Reduced ability to climb stairs.'),('HP:0003552','Muscle stiffness','A condition in which muscles cannot be moved quickly without accompanying pain or spasm.'),('HP:0003553','obsolete Cellulitis due to immunodeficiency',''),('HP:0003554','Type 2 muscle fiber atrophy','Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.'),('HP:0003555','Muscle fiber splitting','Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.'),('HP:0003557','Increased variability in muscle fiber diameter','An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.'),('HP:0003558','Viral infection-induced rhabdomyolysis','Rhabdomyolysis induced by a viral infection.'),('HP:0003559','Muscle hyperirritability',''),('HP:0003560','Muscular dystrophy','The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.'),('HP:0003561','Birth length less than 3rd percentile',''),('HP:0003562','Abnormal metaphyseal vascular invasion',''),('HP:0003563','Decreased LDL cholesterol concentration','An decreased concentration of low-density lipoprotein cholesterol in the blood.'),('HP:0003564','Folate-dependent fragile site at Xq28','The presence of a folate sensitive fragile site at chromosome Xq28.'),('HP:0003565','Elevated erythrocyte sedimentation rate','An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.'),('HP:0003566','Increased serum prostaglandin E2','An increased concentration of prostaglandin E2 in the blood.'),('HP:0003568','Decreased glucosephosphate isomerase level','A decreased level of glucose-6-phosphate isomerase.'),('HP:0003570','Molybdenum cofactor deficiency','Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.'),('HP:0003571','Propionicacidemia',''),('HP:0003572','Low plasma citrulline','A decreased concentration of citrulline in the blood.'),('HP:0003573','Increased total bilirubin','Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.'),('HP:0003574','Positive regitine blocking test','A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.'),('HP:0003575','Increased intracellular sodium','An abnormally increased sodium concentration in the cytosol.'),('HP:0003577','Congenital onset','A phenotypic abnormality that is present at birth.'),('HP:0003581','Adult onset','Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.'),('HP:0003584','Late onset','A type of adult onset with onset of symptoms after the age of 60 years.'),('HP:0003587','Insidious onset','Gradual, very slow onset of disease manifestations.'),('HP:0003593','Infantile onset','Onset of signs or symptoms of disease between 28 days to one year of life.'),('HP:0003596','Middle age onset','A type of adult onset with onset of symptoms at the age of 40 to 60 years.'),('HP:0003606','Absent urinary urothione','Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.'),('HP:0003607','4-Hydroxyphenylacetic aciduria','Increased concentration of 4-hydroxyphenylacetic acid in the urine.'),('HP:0003609','Foam cells with lamellar inclusion bodies','The presence of foam cells that contain lamellar inclusion bodies.'),('HP:0003610','Fibroblast metachromasia','Increased cytoplasmic staining of fibroblasts with toluidine blue.'),('HP:0003612','Positive ferric chloride test','If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.'),('HP:0003613','Antiphospholipid antibody positivity','The presence of circulating autoantibodies to phospholipids.'),('HP:0003614','Trimethylaminuria','Increased concentration of trimethylamine in the urine.'),('HP:0003616','Premature separation of centromeric heterochromatin',''),('HP:0003621','Juvenile onset','Onset of signs or symptoms of disease between the age of 5 and 15 years.'),('HP:0003623','Neonatal onset','Onset of signs or symptoms of disease within the first 28 days of life.'),('HP:0003634','Amyoplasia','Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.'),('HP:0003635','Loss of subcutaneous adipose tissue in limbs','Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.'),('HP:0003637','Reduced 4-Hydroxyphenylpyruvate dioxygenase level','An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.'),('HP:0003639','Elevated urinary epinephrine','An increased concentration of adrenaline in the urine.'),('HP:0003640','Foam cells in visceral organs and CNS',''),('HP:0003641','Hemoglobinuria','The presence of free hemoglobin in the urine.'),('HP:0003642','Type I transferrin isoform profile','Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.'),('HP:0003643','Sulfite oxidase deficiency','Abnormally reduced sulfite oxidase level.'),('HP:0003645','Prolonged partial thromboplastin time','Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.'),('HP:0003646','Bicarbonaturia','Abnormally increased concentration of hydrogencarbonate in the urine.'),('HP:0003647','Electron transfer flavoprotein-ubiquinone oxidoreductase defect','A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.'),('HP:0003648','Lacticaciduria','An increased concentration of lactic acid in the urine.'),('HP:0003649','Abnormality of glycoside metabolism','Abnormality of glycoside metabolism.'),('HP:0003651','Foam cells','The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.'),('HP:0003652','Recurrent myoglobinuria','Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.'),('HP:0003653','Cellular metachromasia','Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.'),('HP:0003654','Reduced dihydropyrimidine dehydrogenase level','An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.'),('HP:0003655','Reduced level of N-acetylglucosaminyltransferase II','An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.'),('HP:0003656','Decreased beta-glucocerebrosidase level','Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.'),('HP:0003657','Granular osmiophilic deposits (GROD) in cells',''),('HP:0003658','Hypomethioninemia','A decreased concentration of methionine in the blood.'),('HP:0003665','Amyotrophy of the musculature of the pelvis','Muscular atrophy affecting the muscles of the pelvis.'),('HP:0003674','Onset','The age group in which disease manifestations appear.'),('HP:0003676','Progressive',''),('HP:0003677','Slow progression',''),('HP:0003678','Rapidly progressive',''),('HP:0003679','Pace of progression',''),('HP:0003680','Nonprogressive',''),('HP:0003682','Variable progression rate',''),('HP:0003683','Large beaked nose',''),('HP:0003687','Centrally nucleated skeletal muscle fibers','An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).'),('HP:0003688','Cytochrome C oxidase-negative muscle fibers','An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.'),('HP:0003689','Multiple mitochondrial DNA deletions','The presence of multiple deletions of mitochondrial DNA (mtDNA).'),('HP:0003690','Limb muscle weakness','Reduced strength and weakness of the muscles of the arms and legs.'),('HP:0003691','Scapular winging','Abnormal protrusion of the scapula away from the surface of the back.'),('HP:0003693','Distal amyotrophy','Muscular atrophy affecting muscles in the distal portions of the extremities.'),('HP:0003694','Late-onset proximal muscle weakness','Lack of strength of the proximal musculature occurring late in the clinical course.'),('HP:0003696','Absent epiphysis of the distal phalanx of the 5th finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.'),('HP:0003697','Scapuloperoneal amyotrophy','Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.'),('HP:0003698','Difficulty standing',''),('HP:0003700','Generalized amyotrophy','Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.'),('HP:0003701','Proximal muscle weakness','A lack of strength of the proximal muscles.'),('HP:0003704','Scapuloperoneal weakness',''),('HP:0003707','Calf muscle pseudohypertrophy','Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.'),('HP:0003710','Exercise-induced muscle cramps','Sudden and involuntary contractions of one or more muscles brought on by physical exertion.'),('HP:0003712','Skeletal muscle hypertrophy','Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).'),('HP:0003713','Muscle fiber necrosis','Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.'),('HP:0003715','Myofibrillar myopathy','Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.'),('HP:0003716','Generalized muscular appearance from birth',''),('HP:0003717','Minimal subcutaneous fat',''),('HP:0003719','Muscle mounding',''),('HP:0003720','Generalized muscle hypertrophy','Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.'),('HP:0003722','Neck flexor weakness','Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).'),('HP:0003724','Shoulder girdle muscle atrophy','Amyotrophy affecting the muscles of the shoulder girdle.'),('HP:0003725','Firm muscles',''),('HP:0003729','Enteroviral dermatomyositis syndrome',''),('HP:0003730','EMG: myotonic runs','Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).'),('HP:0003731','Quadriceps muscle weakness','Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).'),('HP:0003733','Thigh hypertrophy','Muscle hypertrophy affecting the thighs.'),('HP:0003736','Autophagic vacuoles','The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.'),('HP:0003737','Mitochondrial myopathy','A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.'),('HP:0003738','Exercise-induced myalgia','The occurrence of an unusually high amount of muscle pain following exercise.'),('HP:0003739','Myoclonic spasms',''),('HP:0003740','Myotonia with warm-up phenomenon','Myotonia that occurs after a period of rest and decreases with continuing exercise.'),('HP:0003741','Congenital muscular dystrophy',''),('HP:0003743','Genetic anticipation','A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.'),('HP:0003744','Genetic anticipation with paternal anticipation bias','A type of genetic anticipation observed predominantly upon transmission from affected males.'),('HP:0003745','Sporadic','Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.'),('HP:0003749','Pelvic girdle muscle weakness','Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.'),('HP:0003750','Increased muscle fatiguability','An abnormal, increased fatiguability of the musculature.'),('HP:0003752','Episodic flaccid weakness','Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.'),('HP:0003755','Type 1 fibers relatively smaller than type 2 fibers','The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.'),('HP:0003756','Skeletal myopathy',''),('HP:0003758','Reduced subcutaneous adipose tissue','A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.'),('HP:0003759','Hypoplasia of lymphatic vessels','Congenital underdevelopment of lymph vessels.'),('HP:0003760','Percussion-induced rapid rolling muscle contractions','Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.'),('HP:0003761','Calcinosis','Formation of calcium deposits in any soft tissue.'),('HP:0003762','Uterus didelphys','A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.'),('HP:0003763','Bruxism','Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.'),('HP:0003764','Nevus','A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.'),('HP:0003765','Psoriasiform dermatitis','A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).'),('HP:0003768','Periodic paralysis','Episodes of muscle weakness.'),('HP:0003771','Pulp stones','Multiple punctate calcifications in the dental pulp.'),('HP:0003774','Stage 5 chronic kidney disease','A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.'),('HP:0003777','Pili torti','Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.'),('HP:0003778','Short mandibular rami',''),('HP:0003779','Antegonial notching of mandible',''),('HP:0003781','Excessive salivation','Excessive production of saliva.'),('HP:0003782','Eunuchoid habitus','A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).'),('HP:0003783','Externally rotated/abducted legs',''),('HP:0003784','Type 1 collagen overmodification',''),('HP:0003785','Decreased CSF homovanillic acid','Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.'),('HP:0003787','Type 1 and type 2 muscle fiber minicore regions','Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.'),('HP:0003789','Minicore myopathy','Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.'),('HP:0003791','Deposits immunoreactive to beta-amyloid protein',''),('HP:0003795','Short middle phalanx of toe','Developmental hypoplasia (shortening) of middle phalanx of toe.'),('HP:0003796','Irregular iliac crest','Irregularity of the iliac crest, which is the superior border of the wing of the ilium.'),('HP:0003797','Limb-girdle muscle atrophy','Muscular atrophy affecting the muscles of the limb girdle.'),('HP:0003798','Nemaline bodies','Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.'),('HP:0003799','Marked delay in bone age',''),('HP:0003800','Muscle abnormality related to mitochondrial dysfunction',''),('HP:0003803','Type 1 muscle fiber predominance','An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).'),('HP:0003805','Rimmed vacuoles','Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.'),('HP:0003808','Abnormal muscle tone',''),('HP:0003809','Reduced intrathoracic adipose tissue','An abnormally reduced amount of adipose tissue in the thoracic cavity.'),('HP:0003810','Late-onset distal muscle weakness',''),('HP:0003811','Neonatal death','Death within the first 28 days of life.'),('HP:0003812','Phenotypic variability','A variability of phenotypic features.'),('HP:0003819','Death in childhood','Death in during childhood, defined here as between the ages of 2 and 10 years.'),('HP:0003826','Stillbirth','Death of the fetus in utero after at least 20 weeks of gestation.'),('HP:0003828','Variable expressivity','A variable severity of phenotypic features.'),('HP:0003829','Incomplete penetrance','A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.'),('HP:0003831','Age-dependent penetrance','A situation in which phenotypic abnormalities become evident with age.'),('HP:0003832','Abnormality of the tibial plateaux',''),('HP:0003833','Laterally deficient tibial plateaux',''),('HP:0003834','Shoulder dislocation','A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.'),('HP:0003835','Shoulder subluxation','A partial dislocation of the shoulder joint.'),('HP:0003836','Stippled calcification of the shoulder',''),('HP:0003837','Soft-tissue ossification around the shoulders','Formation of calcified tissue in the soft tissues surrounding the shoulder.'),('HP:0003839','Abnormality of upper limb epiphysis morphology',''),('HP:0003840','Delayed upper limb epiphyseal ossification','A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.'),('HP:0003841','Fragmented epiphyses of the upper limbs',''),('HP:0003842','Irregular epiphyses of the upper limbs',''),('HP:0003843','Round epiphyses of the upper limbs',''),('HP:0003844','Small epiphyses of the upper limbs',''),('HP:0003846','Wide epiphyseal plates of the upper limbs',''),('HP:0003848','Cupped metaphyses of the upper limbs',''),('HP:0003849','Flared upper limb metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.'),('HP:0003850','Upper-limb metaphyseal irregularity',''),('HP:0003851','Lytic defects in metaphyses of the upper limbs',''),('HP:0003852','Normal density transverse bands in metaphyses of the upper limbs',''),('HP:0003853','Sclerosis with transverse striations in metaphyses of the upper limbs',''),('HP:0003854','Sclerosis of metaphyses of the upper limbs',''),('HP:0003855','Spurred metaphyses of the upper limbs',''),('HP:0003856','Upper limb metaphyseal widening','Increased width (breadth) of metaphyses of the arms.'),('HP:0003858','Cortical diaphyseal irregularity of the upper limbs',''),('HP:0003859','Cortical diaphyseal thickening of the upper limbs',''),('HP:0003860','Diaphyseal sclerosis of the upper limbs','An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0003861','Broad diaphyses of the upper limbs',''),('HP:0003862','Absent humerus','Missing humerus bone associated with congenital failure of development.'),('HP:0003863','Angulated humerus',''),('HP:0003864','Bifid humerus','Clefting affecting the humerus.'),('HP:0003865','Bowed humerus','A bending or abnormal curvature of the humerus.'),('HP:0003866','Coarse humeral trabeculae',''),('HP:0003867','Humeral cortical irregularity',''),('HP:0003868','Humeral cortical thickening',''),('HP:0003869','Humeral cortical thinning',''),('HP:0003870','Crumpled humerus',''),('HP:0003871','Deformed humerus',''),('HP:0003872','Humeral exostoses','Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.'),('HP:0003874','Humerus varus',''),('HP:0003875','Humeral lytic defects','Destruction of an area of humerus bone due to a disease process, such as cancer.'),('HP:0003876','Osteoporotic humerus',''),('HP:0003877','Oval transradiancy of humerus',''),('HP:0003878','Periosteal new bone of humerus',''),('HP:0003879','Humeral pseudarthrosis',''),('HP:0003880','Sclerotic foci of the humerus',''),('HP:0003881','Humeral sclerosis',''),('HP:0003882','Slender humerus','Reduction in diameter of the humerus.'),('HP:0003883','Tapered humerus',''),('HP:0003884','Triangular humerus',''),('HP:0003885','Undermodeled humerus',''),('HP:0003886','Wide humerus',''),('HP:0003887','Abnormality of the humeral heads',''),('HP:0003888','Flattened humeral heads',''),('HP:0003889','Abnormality of the deltoid tuberosities',''),('HP:0003890','Prominent deltoid tuberosities',''),('HP:0003891','Abnormality of the humeral epiphysis','An anomaly of the humeral epiphysis.'),('HP:0003892','Absent humeral epiphyseal ossification','Lack of formation of bone in the epiphysis of the humerus.'),('HP:0003893','Advanced ossification of the humeral epiphysis','Ossification of the humeral epiphysis at an earlier age than normal.'),('HP:0003894','Delayed humeral epiphyseal ossification','A delay in the process of formation and maturation of the humeral epiphysis.'),('HP:0003895','Flattened humeral epiphyses',''),('HP:0003896','Irregular humeral epiphyses',''),('HP:0003897','Irregular ossification of the humeral epiphyses',''),('HP:0003898','Large humeral epiphyses',''),('HP:0003899','Round humeral epiphyses',''),('HP:0003900','Small humeral epiphyses',''),('HP:0003901','Stippled calcification of the humeral epiphyses',''),('HP:0003902','Epiphyseal stippling of the humerus','The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.'),('HP:0003903','Broad humeral epiphyses','Increased width of the humeral epiphysis.'),('HP:0003904','Wide epiphyses of the upper limbs',''),('HP:0003905','Abnormality of the humeral epiphyseal plate',''),('HP:0003906','Broad humeral epiphyseal plate','Increased width of the humeral epiphyseal growth plate.'),('HP:0003907','Abnormality of the humeral metaphyses',''),('HP:0003908','Corner fracture of metaphysis','Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.'),('HP:0003909','Cortical subperiosteal resorption of humeral metaphyses',''),('HP:0003910','Enlarged humeral metaphyses',''),('HP:0003911','Flared humeral metaphysis','Flaring (increase of width with a splayed appearance) of the humeral metaphysis.'),('HP:0003912','Frayed humeral metaphyses',''),('HP:0003913','Humeral metaphyseal irregularity',''),('HP:0003914','Irregular ossification of humeral metaphyses',''),('HP:0003915','Lytic defects of the humeral metaphysis',''),('HP:0003916','Normal-density transverse humeral bands',''),('HP:0003917','Pointed humeral metaphysis',''),('HP:0003918','Sclerotic humeral metaphysis',''),('HP:0003919','Sclerotic humeral metaphysis with longitudinal striations',''),('HP:0003920','Sloping humeral metaphysis',''),('HP:0003921','Laterally sloping humeral metaphysis',''),('HP:0003922','Spurred humeral metaphysis',''),('HP:0003923','Square humeral metaphysis',''),('HP:0003924','Stippled calcification of humeral metaphysis',''),('HP:0003926','Abnormality of the humeral diaphysis','An anomaly of the humeral diaphysis.'),('HP:0003927','Cortical irregularity of humeral diaphysis','An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.'),('HP:0003928','Cortical thickening of humeral diaphysis',''),('HP:0003929','Ground glass opacity of humeral diaphysis',''),('HP:0003930','Lytic defects of humeral diaphysis',''),('HP:0003931','Periosteal new bone of humeral diaphysis',''),('HP:0003932','Sclerotic foci of humeral diaphysis',''),('HP:0003933','Sclerosis of humeral diaphysis',''),('HP:0003934','Slender humeral diaphysis',''),('HP:0003935','Wide humeral diaphysis','Increased width of the humeral diaphysis.'),('HP:0003938','Synostosis involving the elbow',''),('HP:0003939','Humeroulnar synostosis','An abnormal osseous union (fusion) between the ulna and the humerus.'),('HP:0003940','Osteoarthritis of the elbow',''),('HP:0003941','Stippled calcification of the elbow',''),('HP:0003942','Synovial chondromatosis of the elbow',''),('HP:0003943','Abnormality of the joint spaces of the elbow',''),('HP:0003944','Narrow joint spaces of the elbow',''),('HP:0003945','Irregular articular surfaces of the elbow joints',''),('HP:0003946','Abnormality of the epiphyses of the elbow',''),('HP:0003947','Delayed elbow epiphyseal ossification','A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.'),('HP:0003948','Irregular epiphyses of the elbow',''),('HP:0003949','Abnormality of the elbow metaphyses',''),('HP:0003950','Flared elbow metaphyses',''),('HP:0003951','Distal humeral metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).'),('HP:0003952','Sclerotic foci of metaphyses of the elbow',''),('HP:0003953','Absent forearm bone','Absence of one or more forearm bones associated with congenital failure of development.'),('HP:0003954','Angulated forearm bones',''),('HP:0003955','Bone-in-a-bone appearance of forearm','A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.'),('HP:0003956','Bowed forearm bones','A bending or abnormal curvature affecting either the radius, the ulna, or both.'),('HP:0003957','Cortical thickening of the forearm bones',''),('HP:0003958','Cross-fusion of the forearm bones',''),('HP:0003959','Deformed forearm bones',''),('HP:0003960','Exostoses of the forearm bones',''),('HP:0003961','Fractured forearm bones',''),('HP:0003963','Lytic defects of the forearm bones',''),('HP:0003964','Osteoporotic forearm bones',''),('HP:0003965','Pseudarthrosis of the forearm bones',''),('HP:0003966','Sclerotic foci in forearm bones',''),('HP:0003967','Sclerotic forearm bones',''),('HP:0003969','Slender forearm bones',''),('HP:0003970','Undermodelled forearm bones',''),('HP:0003971','Broad forearm bones','Abnormally wide bone of the skeleton of forearm.'),('HP:0003973','Wide radioulnar joints',''),('HP:0003974','Absent radius','Missing radius bone associated with congenital failure of development.'),('HP:0003975','obsolete Chevron-shaped/cone-shaped radius',''),('HP:0003976','Constricted radius',''),('HP:0003977','Deformed radius',''),('HP:0003978','Fractured radius',''),('HP:0003979','Lytic defects of the radius',''),('HP:0003980','Pseudarthrosis of the radius',''),('HP:0003981','Broad radius','Increased width of the radius.'),('HP:0003982','Aplasia of the ulna','Missing ulna bone associated with congenital failure of development.'),('HP:0003984','Posteriorly dislocated ulna',''),('HP:0003985','Exostoses of the ulna',''),('HP:0003986','Exostoses of the radius',''),('HP:0003987','Fractured ulna',''),('HP:0003988','Long ulna','Increased length of the ulna.'),('HP:0003989','Notched ulna',''),('HP:0003990','Pointed ulna',''),('HP:0003991','Osteosclerosis of the ulna','Osteosclerosis (increased density related to increased bone mass) of the ulna.'),('HP:0003992','Slender ulna','Reduction in diameter of the ulna.'),('HP:0003993','Broad ulna','Increased width of the ulna.'),('HP:0003994','Dislocated wrist','An injury of the wrist with displacement of any of the eight carpal bones.'),('HP:0003995','Abnormality of the radial head',''),('HP:0003996','Flattened radial head',''),('HP:0003997','Hypoplastic radial head',''),('HP:0003998','Constricted radial neck',''),('HP:0003999','Abnormality of radial epiphyses',''),('HP:0004000','Cone-shaped distal radial epiphysis','The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.'),('HP:0004001','Medially deficient radial epiphyses',''),('HP:0004002','Flattened radial epiphyses',''),('HP:0004003','Medially flattened radial epiphyses',''),('HP:0004004','Irregular radial epiphyses',''),('HP:0004005','Large radial epiphyses',''),('HP:0004006','Round radial epiphyses',''),('HP:0004007','Sclerotic radial epiphyses',''),('HP:0004008','Sloping radial epiphyses',''),('HP:0004009','Medially sloping radial epiphyses',''),('HP:0004010','Small radial epiphyses',''),('HP:0004012','Premature fusion of the radial epiphyseal plates','A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.'),('HP:0004013','Medially fused radial epiphyseal plates',''),('HP:0004014','Broad radial epiphyseal plate','Abnormal increase in width of the epiphyseal growth plate of the radius.'),('HP:0004015','Abnormality of radial metaphyses',''),('HP:0004016','Cupped radial metaphyses',''),('HP:0004017','Exostoses of the radial metaphysis',''),('HP:0004018','Flared radial metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.'),('HP:0004019','Radial metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis of the radius.'),('HP:0004020','Irregular ossification of the radial metaphysis',''),('HP:0004021','Lytic defects of radial metaphysis',''),('HP:0004022','Sclerotic radial metaphysis with longitudinal striations',''),('HP:0004023','Sloping radial metaphysis',''),('HP:0004024','Medially sloping radial metaphysis',''),('HP:0004025','Spurred radial metaphysis',''),('HP:0004026','Broad radial metaphysis','Increase in width (breadth) of the radial metaphysis.'),('HP:0004027','Abnormality of radial diaphysis','An anomaly of the radial diaphysis.'),('HP:0004028','Spurs of radial diaphysis',''),('HP:0004029','Lytic defects of radial diaphysis',''),('HP:0004030','Patchy sclerosis of radial diaphysis',''),('HP:0004031','Broad radial diaphysis','Increase in width of the diaphysis of radius.'),('HP:0004032','Abnormality of the olecranon',''),('HP:0004033','Curved olecranon',''),('HP:0004034','Irregular olecranon',''),('HP:0004035','Abnormality of the styloid process of ulna',''),('HP:0004036','Long styloid process of ulna',''),('HP:0004037','Abnormality of the ulnar epiphyses',''),('HP:0004038','obsolete Bony spicule of ulnar epiphyseal plate',''),('HP:0004039','Abnormality of ulnar metaphysis',''),('HP:0004040','Corner fragments of ulnar metaphysis',''),('HP:0004041','Cupped ulnar metaphysis',''),('HP:0004042','Ulnar metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis of the ulna.'),('HP:0004043','Lytic defects of ulnar metaphysis',''),('HP:0004044','Pointed ulnar metaphysis',''),('HP:0004045','Sloping ulnar metaphysis','A sloped configuration of the metaphysis (shaft) of the ulna.'),('HP:0004046','Spurred ulnar metaphysis',''),('HP:0004047','Wide ulnar metaphysis','Increase in width (breadth) of the ulnar metaphysis.'),('HP:0004048','Narrow joint spaces of wrist',''),('HP:0004049','Decreased carpal angles of wrist',''),('HP:0004050','Absent hand','The total absence of the hand, with no bony elements distal to the radius or ulna.'),('HP:0004051','Advanced ossification of the hand bones','Ossification of hand bones at an earlier age than normal.'),('HP:0004052','Delayed ossification of the hand bones','Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.'),('HP:0004053','Dysharmonic maturation of the hand bones','Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.'),('HP:0004054','Sclerosis of hand bone','Osteosclerosis affecting one or more bones of the hand.'),('HP:0004057','Mitten deformity','Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity.'),('HP:0004058','Hand monodactyly',''),('HP:0004059','Radial club hand','Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.'),('HP:0004060','Trident hand','A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.'),('HP:0004066','obsolete Laterally deviated thumb phalanges',''),('HP:0004083','obsolete Laterally deviated terminal thumb phalanx',''),('HP:0004090','obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis',''),('HP:0004095','Curved fingers',''),('HP:0004097','Deviation of finger','Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.'),('HP:0004099','Macrodactyly','Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.'),('HP:0004100','Abnormal 2nd finger morphology','An anomaly of the second finger, also known as the index finger.'),('HP:0004110','obsolete Radially deviated index finger phalanges',''),('HP:0004112','Midline nasal groove','An abnormal groove on the midline of the nose that may extend to the nasal tip.'),('HP:0004121','obsolete Radially displaced proximal index finger phalanx',''),('HP:0004122','Midline defect of the nose','This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.'),('HP:0004132','Dimple on nasal tip','An abnormal indentation of the skin in the region of the nasal tip.'),('HP:0004138','obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger',''),('HP:0004139','obsolete Flared metaphysis of middle phalanx of index finger',''),('HP:0004143','obsolete Radially deviated terminal index finger phalanx',''),('HP:0004144','obsolete Duplication of terminal index finger phalanx',''),('HP:0004150','Abnormal 3rd finger morphology','An anomaly of the third finger.'),('HP:0004153','obsolete Overgrowth of middle finger',''),('HP:0004157','obsolete Accessory middle-finger phalanges',''),('HP:0004161','obsolete Periosteal new bone of middle finger phalanges',''),('HP:0004162','obsolete Radially pointed middle finger phalanges',''),('HP:0004168','obsolete Radially pointed proximal middle-finger phalanx',''),('HP:0004172','Abnormality of the middle phalanx of the 3rd finger',''),('HP:0004174','obsolete Accessory middle phalanx of middle finger',''),('HP:0004175','obsolete Periosteal new bone of middle phalanx of middle-finger',''),('HP:0004180','Short distal phalanx of the 3rd finger','Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.'),('HP:0004183','obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger',''),('HP:0004184','obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger',''),('HP:0004185','obsolete Fused epiphysis of terminal phalanx of the middle finger',''),('HP:0004186','obsolete Large epiphysis of terminal phalanx of the middle finger',''),('HP:0004187','obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger',''),('HP:0004188','Abnormal 4th finger morphology',''),('HP:0004192','obsolete Bracket epiphyses of the 4th finger',''),('HP:0004193','obsolete Expanded phalanges of the ring finger',''),('HP:0004194','obsolete Hypoplastic phalanges of the ring finger',''),('HP:0004195','Osteolytic defects of the phalanges of the 4th finger','Osteolytic defects of the phalanges of the 4th (ring) finger.'),('HP:0004196','obsolete Short phalanges of the ring finger',''),('HP:0004197','Symphalangism of the 4th finger','Fusion of two or more bones of the 4th finger.'),('HP:0004198','obsolete Wide/broad phalanges of the ring finger',''),('HP:0004201','obsolete Expanded proximal phalanx of the ring finger',''),('HP:0004202','obsolete Lytic defects of the proximal phalanx of the ring finger',''),('HP:0004203','obsolete Short proximal phalanx of the ring finger',''),('HP:0004207','Abnormal 5th finger morphology','An abnormality affecting one or both 5th fingers.'),('HP:0004209','Clinodactyly of the 5th finger','Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).'),('HP:0004213','Abnormal 5th finger phalanx morphology','Abnormality of the phalanges of the 5th (little) finger.'),('HP:0004214','Curved phalanges of the 5th finger','Curved phalanges of the 5th (little) finger.'),('HP:0004216','Osteolytic defects of the phalanges of the 5th finger','Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.'),('HP:0004218','Symphalangism of the 5th finger','Fusion of two or more bones of the 5th finger.'),('HP:0004219','Abnormality of the middle phalanx of the 5th finger',''),('HP:0004220','Short middle phalanx of the 5th finger','Hypoplastic/small middle phalanx of the fifth finger.'),('HP:0004222','Cone-shaped epiphysis of the distal phalanx of the 5th finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0004223','Ivory epiphysis of the distal phalanx of the 5th finger','Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0004224','Abnormality of the epiphysis of the middle phalanx of the 5th finger','Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.'),('HP:0004225','Abnormality of the distal phalanx of the 5th finger','Abnormality of the distal phalanx of the 5th (little) finger.'),('HP:0004226','Curved distal phalanx of the 5th finger','Curved appearance of the distal phalanx of the 5th (little) finger.'),('HP:0004227','Short distal phalanx of the 5th finger','Hypoplastic/small distal phalanx of the fifth finger.'),('HP:0004230','Subluxation of the proximal interphalangeal joint of the little finger','A partial dislocation of the proximal interphalangeal joint of the little finger.'),('HP:0004231','Carpal bone aplasia','Congenital absence of a carpal bone.'),('HP:0004232','Accessory carpal bones','The presence of more than the normal number of carpal bones.'),('HP:0004233','Advanced ossification of carpal bones','Ossification of carpal bones at an abnormally early age.'),('HP:0004234','Bone-in-a-bone appearance of carpal bones','The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.'),('HP:0004235','Comma-shaped carpal bones',''),('HP:0004236','Irregular carpal bones','Carpal bones with irregular or fragmented margins.'),('HP:0004237','Large carpal bones','Increased size of carpal bones.'),('HP:0004238','Lytic defects of carpal bones',''),('HP:0004239','Proximally placed carpal bones',''),('HP:0004240','Sclerotic foci within carpal bones',''),('HP:0004241','Stippled calcification in carpal bones','Point-shaped (punctate) calcifications affecting the carpal bones.'),('HP:0004242','Broad carpal bones',''),('HP:0004243','Abnormality of the scaphoid',''),('HP:0004244','Accessory scaphoid',''),('HP:0004245','Comma-shaped scaphoid',''),('HP:0004246','Delayed ossification of the scaphoid','Formation of bone tissue of scaphoid is less than expected for age.'),('HP:0004247','Small scaphoid','Underdevelopment of the scaphoid.'),('HP:0004248','Abnormality of the lunate bone',''),('HP:0004249','Accessory lunate',''),('HP:0004250','Proximally placed lunate',''),('HP:0004251','Lunate-triquetral fusion','Osseous fusion of the lunate and triquetrum.'),('HP:0004252','Abnormality of the trapezium','An anomaly of trapezium.'),('HP:0004253','Absent trapezium',''),('HP:0004254','Delayed ossification of the trapezium','Formation of bone tissue of trapezium is less than expected for age.'),('HP:0004255','Small trapezium','Underdevelopment of the trapezium.'),('HP:0004256','Abnormality of the trapezoid bone',''),('HP:0004257','Delayed ossification of the trapezoid bone','Formation of bone tissue of trapezoid is less than expected for age.'),('HP:0004258','Small trapezoid bone','Underdevelopment of the trapezoid.'),('HP:0004259','Abnormality of the hamate bone',''),('HP:0004260','Large hamate bone',''),('HP:0004261','Wide hamate bone',''),('HP:0004262','Abnormality of the capitate bone',''),('HP:0004263','Large capitate bone',''),('HP:0004264','Narrow carpal joint spaces',''),('HP:0004267','Narrow small joints of the hand',''),('HP:0004268','Osteoarthritis of the small joints of the hand',''),('HP:0004269','Subluxation of the small joints of the hand','A partial dislocation of some or all of the small joints of the hand.'),('HP:0004271','Cortical thickening of hand bones',''),('HP:0004272','Cortical thinning of hand bones',''),('HP:0004273','Cupped metaphyses of hand bones',''),('HP:0004274','Deficient ossification of hand bones',''),('HP:0004275','Duplication of hand bones',''),('HP:0004276','Exostoses of hand bones','Abnormal formation of new bone on the surface of a bone of the hand.'),('HP:0004277','Fractured hand bones',''),('HP:0004278','Synostosis involving bones of the hand','An abnormal union between bones or parts of bones of the hand.'),('HP:0004279','Short palm','Short palm.'),('HP:0004280','Irregular ossification of hand bones',''),('HP:0004281','Irregular sclerosis of hand bones',''),('HP:0004283','Narrow palm','For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.'),('HP:0004284','Notched hand bones',''),('HP:0004285','Overmodelled hand bones',''),('HP:0004286','Patchy sclerosis of hand bones',''),('HP:0004287','Pointed hand bones',''),('HP:0004288','Pseudoepiphyses of hand bones',''),('HP:0004289','Sclerotic foci in hand bones',''),('HP:0004290','Sclerosis of hand bones with transverse striations',''),('HP:0004291','Stippled calcification of hand bones',''),('HP:0004292','Undermodelled hand bones',''),('HP:0004293','Synostosis of second metacarpal-trapezoid','Fusion of the second metacarpal-trapezoid.'),('HP:0004294','Subluxation of metacarpal phalangeal joints','A partial dislocation affecting some or all of the metacarpophalangeal joints.'),('HP:0004295','Abnormality of the gastric mucosa','An abnormality of the gastric mucous membrane.'),('HP:0004296','Abnormality of gastrointestinal vasculature',''),('HP:0004297','Abnormality of the biliary system','An abnormality of the biliary system.'),('HP:0004298','Abnormality of the abdominal wall','The presence of any abnormality affecting the abdominal wall.'),('HP:0004299','Hernia of the abdominal wall','The presence of a hernia in the abdominal wall.'),('HP:0004302','Functional motor deficit',''),('HP:0004303','Abnormal muscle fiber morphology','Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.'),('HP:0004305','Involuntary movements','Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.'),('HP:0004306','Abnormal endocardium morphology','An abnormality of the endocardium.'),('HP:0004307','Abnormal anatomic location of the heart','Thickening of the left ventricle wall with congenital onset.'),('HP:0004308','Ventricular arrhythmia',''),('HP:0004309','Ventricular preexcitation','An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.'),('HP:0004311','Abnormal macrophage morphology','An abnormality of macrophages.'),('HP:0004312','Abnormal reticulocyte morphology','A reticulocyte abnormality.'),('HP:0004313','Decreased circulating antibody level','An abnormally decreased level of immunoglobulin in blood.'),('HP:0004315','Decreased circulating IgG level','An abnormally decreased level of immunoglobulin G (IgG) in blood.'),('HP:0004319','Decreased circulating aldosterone level','Abnormally reduced levels of aldosterone.'),('HP:0004320','Vaginal fistula','The presence of a fistula of the vagina.'),('HP:0004321','Bladder fistula','The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.'),('HP:0004322','Short stature','A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).'),('HP:0004323','Abnormality of body weight','An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.'),('HP:0004324','Increased body weight','Abnormally increased body weight.'),('HP:0004325','Decreased body weight','Abnormally low body weight.'),('HP:0004326','Cachexia','Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.'),('HP:0004327','Abnormal vitreous humor morphology','Any structural anomaly of the vitreous body.'),('HP:0004328','Abnormal anterior eye segment morphology','An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).'),('HP:0004329','Abnormal posterior eye segment morphology',''),('HP:0004330','Increased skull ossification','An increase in the magnitude or amount of ossification of the skull.'),('HP:0004331','Decreased skull ossification','A reduction in the magnitude or amount of ossification of the skull.'),('HP:0004332','Abnormal lymphocyte morphology','An abnormality of lymphocytes.'),('HP:0004333','Bone-marrow foam cells','The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.'),('HP:0004334','Dermal atrophy','Partial or complete wasting (atrophy) of the skin.'),('HP:0004336','Myelin outfoldings','The presence of excessive redundant myelin in the peripheral nerve sheath.'),('HP:0004337','Abnormality of amino acid metabolism','Abnormality of an amino acid metabolic process.'),('HP:0004338','Abnormal circulating aromatic amino acid concentration','Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.'),('HP:0004339','Abnormal circulating sulfur amino acid concentration','Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.'),('HP:0004340','Abnormality of vitamin B metabolism',''),('HP:0004341','Abnormality of vitamin B12 metabolism',''),('HP:0004342','Abnormality of galactoside metabolism','Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.'),('HP:0004343','Abnormality of glycosphingolipid metabolism','An abnormality of glycosphingolipid metabolism.'),('HP:0004344','Abnormality of cerebrosidase metabolism',''),('HP:0004345','Ganglioside accumulation','Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).'),('HP:0004347','Weakness of muscles of respiration','Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.'),('HP:0004348','Abnormality of bone mineral density','This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient`s age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.'),('HP:0004349','Reduced bone mineral density','A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.'),('HP:0004352','Abnormal circulating purine concentration','Any deviation from the normal concentration of a purine in the blood circulation.'),('HP:0004353','Abnormal circulating pyrimidine concentration','Any deviation from the normal concentration of a pyrimidine in the blood circulation.'),('HP:0004354','Abnormal circulating carboxylic acid concentration','Any deviation from the normal concentration of a carboxylic acid in the blood circulation.'),('HP:0004355','obsolete Abnormality of proteoglycan metabolism',''),('HP:0004356','Abnormality of lysosomal metabolism',''),('HP:0004357','Abnormal circulating leucine concentration','Any deviation from the normal circulation of leucine in the blood circulation.'),('HP:0004358','Abnormality of superoxide metabolism',''),('HP:0004359','Abnormal circulating fatty-acid concentration','A deviation from the normal concentration of a fatty acid in the blood circulation.'),('HP:0004360','Abnormality of acid-base homeostasis','An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.'),('HP:0004361','Abnormality of circulating leptin level','An abnormal concentration of leptin in the blood.'),('HP:0004362','Abnormality of enteric ganglion morphology','An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach`s) and submucosal (Meissner`s) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.'),('HP:0004363','Abnormal circulating calcium concentration','Any deviation from the normal concentration of calcium in the blood circulation.'),('HP:0004364','Abnormal circulating nitrogen compound concentration','Any deviation from the normal concentration of a nitrogen compound in the blood circulation.'),('HP:0004365','Abnormal circulating tryptophan concentration','Any deviation from the normal concentration of tryptophan in the blood circulation.'),('HP:0004366','Abnormality of glycolysis','An abnormality of glycolysis.'),('HP:0004367','obsolete Abnormality of glycoprotein metabolism',''),('HP:0004368','Increased purine level',''),('HP:0004369','Decreased purine level',''),('HP:0004370','Abnormality of temperature regulation','An abnormality of temperature homeostasis.'),('HP:0004371','Abnormality of glycosaminoglycan metabolism','Abnormality of glycosaminoglycan metabolism.'),('HP:0004372','Reduced consciousness/confusion',''),('HP:0004373','Focal dystonia','A type of dystonia that is localized to a specific part of the body.'),('HP:0004374','Hemiplegia/hemiparesis','Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.'),('HP:0004375','Neoplasm of the nervous system','A tumor (abnormal growth of tissue) of the nervous system.'),('HP:0004376','Neuroblastic tumor','A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.'),('HP:0004377','Hematological neoplasm','Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).'),('HP:0004378','Abnormality of the anus','Abnormality of the anal canal.'),('HP:0004379','Abnormality of alkaline phosphatase level','An abnormality of alkaline phosphatase level.'),('HP:0004380','Aortic valve calcification','Deposition of calcium salts in the aortic valve.'),('HP:0004381','Supravalvular aortic stenosis','A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.'),('HP:0004382','Mitral valve calcification','Abnormal calcification of the mitral valve.'),('HP:0004383','Hypoplastic left heart','Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.'),('HP:0004384','Type I truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.'),('HP:0004385','Protracted diarrhea',''),('HP:0004386','Gastrointestinal inflammation','Inflammation of the alimentary part of the gastrointestinal system.'),('HP:0004387','Enterocolitis','An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).'),('HP:0004388','Microcolon','A colon of abnormally small caliber.'),('HP:0004389','Intestinal pseudo-obstruction','A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.'),('HP:0004390','Hamartomatous polyposis','Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.'),('HP:0004392','Prune belly','A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.'),('HP:0004394','Multiple gastric polyps',''),('HP:0004395','Malnutrition',''),('HP:0004396','Poor appetite',''),('HP:0004397','Ectopic anus','Abnormal displacement or malposition of the anus.'),('HP:0004398','Peptic ulcer','An ulcer of the gastrointestinal tract.'),('HP:0004399','Congenital pyloric atresia','Congenital atresia of the pylorus.'),('HP:0004400','Abnormality of the pylorus','An abnormality of the pylorus.'),('HP:0004401','Meconium ileus','Obstruction of the intestine due to abnormally thick meconium.'),('HP:0004403','Proximal esophageal atresia',''),('HP:0004404','Abnormal nipple morphology','An abnormality of the nipple.'),('HP:0004405','Prominent nipples',''),('HP:0004406','Spontaneous, recurrent epistaxis',''),('HP:0004407','Bony paranasal bossing',''),('HP:0004408','Abnormality of the sense of smell','An anomaly in the ability to perceive and distinguish scents (odors).'),('HP:0004409','Hyposmia','A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).'),('HP:0004411','Deviated nasal septum','Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.'),('HP:0004414','Abnormality of the pulmonary artery','An abnormality of the pulmonary artery.'),('HP:0004415','Pulmonary artery stenosis','An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0004416','Precocious atherosclerosis',''),('HP:0004417','Intermittent claudication','Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.'),('HP:0004418','Thrombophlebitis','Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).'),('HP:0004419','Recurrent thrombophlebitis','Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).'),('HP:0004420','Arterial thrombosis','The formation of a blood clot inside an artery.'),('HP:0004421','Elevated systolic blood pressure','Abnormal increase in systolic blood pressure.'),('HP:0004422','Biparietal narrowing','A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).'),('HP:0004423','Cranium bifidum occultum',''),('HP:0004425','Flat forehead','A forehead with abnormal flatness.'),('HP:0004426','Abnormality of the cheek','An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface'),('HP:0004428','Elfin facies','This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.'),('HP:0004429','Recurrent viral infections','Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.'),('HP:0004430','Severe combined immunodeficiency','A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.'),('HP:0004431','Complement deficiency','An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.'),('HP:0004432','Agammaglobulinemia','A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.'),('HP:0004433','Secretory IgA deficiency','Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.'),('HP:0004434','C8 deficiency','A reduced level of the complement component C8 in circulation.'),('HP:0004437','Cranial hyperostosis','Excessive growth of the bones of cranium, i.e., of the skull.'),('HP:0004438','Hyperostosis frontalis interna','Bony overgrowth of the internal (endosteal) surface of the frontal bone.'),('HP:0004439','Craniofacial dysostosis','A characteristic appearance resulting from defective ossification of craniofacial bones.'),('HP:0004440','Coronal craniosynostosis','Premature closure of the coronal suture of skull.'),('HP:0004442','Sagittal craniosynostosis','A kind of craniosynostosis affecting the sagittal suture.'),('HP:0004443','Lambdoidal craniosynostosis','A kind of craniosynostosis affecting the lambdoidal suture.'),('HP:0004444','Spherocytosis','The presence of erythrocytes that are sphere-shaped.'),('HP:0004445','Elliptocytosis','The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.'),('HP:0004446','Stomatocytosis','The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.'),('HP:0004447','Poikilocytosis','The presence of abnormally shaped erythrocytes.'),('HP:0004448','Fulminant hepatic failure','Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.'),('HP:0004450','Preauricular skin furrow','A groove of the skin immediately in front of the ear.'),('HP:0004451','Postauricular skin tag','A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).'),('HP:0004452','Abnormality of the middle ear ossicles','An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).'),('HP:0004453','Overfolding of the superior helices','A condition in which the superior portion of the helix is folded over to a greater degree than normal.'),('HP:0004454','Abnormal middle ear reflexes',''),('HP:0004458','Dilatated internal auditory canal','The presence of a dilated inner part of external acoustic meatus.'),('HP:0004459','Exostosis of the external auditory canal','A benign bony growth projecting outward from a bone surface within the external auditory canal.'),('HP:0004461','Congenital earlobe sinuses','Pits in the earlobes at the location where ears are typically pierced for earrings.'),('HP:0004463','Absent brainstem auditory responses','Lack of measurable response to stimulation of auditory evoked potentials.'),('HP:0004464','Postauricular pit','Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.'),('HP:0004466','Prolonged brainstem auditory evoked potentials',''),('HP:0004467','Preauricular pit','Small indentation anterior to the insertion of the ear.'),('HP:0004468','Anomalous tracheal cartilage','An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).'),('HP:0004469','Chronic bronchitis','Chronic inflammation of the bronchi.'),('HP:0004470','Atretic occipital cephalocele','A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.'),('HP:0004471','Aplasia cutis congenita over the scalp vertex','A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.'),('HP:0004472','Mandibular hyperostosis','Hyperostosis (bony overgrowth) of the mandible.'),('HP:0004474','Persistent open anterior fontanelle','The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.'),('HP:0004476','Aplasia cutis congenita over parietal area','A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.'),('HP:0004478','Ethmoidal encephalocele',''),('HP:0004481','Progressive macrocephaly','The progressive development of an abnormally large skull.'),('HP:0004482','Relative macrocephaly','A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.'),('HP:0004484','Craniofacial asymmetry','Asymmetry of the bones of the skull and the face.'),('HP:0004485','Cessation of head growth','Stagnation of head growth seen as flattening of the head circumference curve.'),('HP:0004487','Acrobrachycephaly','An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.'),('HP:0004488','Macrocephaly at birth','The presence of an abnormally large skull with onset at birth.'),('HP:0004490','Calvarial hyperostosis','Excessive growth of the calvaria.'),('HP:0004491','Large posterior fontanelle','An enlargement of the posterior fontanelle relative to age-dependent norms.'),('HP:0004492','Widely patent fontanelles and sutures','An abnormally increased width of the cranial fontanelles and sutures.'),('HP:0004493','Craniofacial hyperostosis','Excessive growth of the craniofacial bones.'),('HP:0004495','Thin anteverted nares',''),('HP:0004496','Posterior choanal atresia','Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).'),('HP:0004499','Chronic rhinitis due to narrow nasal airway',''),('HP:0004502','Bilateral choanal atresia','Bilateral absence (atresia) of the posterior nasal aperture (choana).'),('HP:0004510','Pancreatic islet-cell hyperplasia','Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.'),('HP:0004523','Long eyebrows','Increased length of the hairs of the eyebrows.'),('HP:0004524','Temporal hypotrichosis','Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).'),('HP:0004527','Large clumps of pigment irregularly distributed along hair shaft',''),('HP:0004528','Generalized hypotrichosis','Reduced or lacking hair growth in a generalized distribution.'),('HP:0004529','Atrophic, patchy alopecia',''),('HP:0004532','Sacral hypertrichosis','Excessive, increased hair growth located in the sacral region.'),('HP:0004535','Anterior cervical hypertrichosis','Anterior cervical hypertrichosis (ACH) or `hairy throat` refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.'),('HP:0004540','Congenital, generalized hypertrichosis','A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.'),('HP:0004544','obsolete Pointed frontal hairline',''),('HP:0004552','Scarring alopecia of scalp',''),('HP:0004554','Generalized hypertrichosis','Generalized excessive, abnormal hairiness.'),('HP:0004557','Anterior vertebral fusion',''),('HP:0004558','Cervical platyspondyly','A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.'),('HP:0004562','Beaking of vertebral bodies T12-L3',''),('HP:0004563','Increased spinal bone density','Increased bone density affecting the bones of the spine (vertebral column).'),('HP:0004565','Severe platyspondyly',''),('HP:0004566','Pear-shaped vertebrae','Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.'),('HP:0004568','Beaking of vertebral bodies','Anterior tongue-like protrusions of the vertebral bodies.'),('HP:0004570','Increased vertebral height','Increased top to bottom height of vertebral bodies.'),('HP:0004571','Widening of cervical spinal canal',''),('HP:0004573','Anterior wedging of T11','An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).'),('HP:0004575','Fusion of midcervical facet joints',''),('HP:0004576','Sclerotic vertebral endplates','Sclerosis (increased density) affecting vertebral end plates.'),('HP:0004580','Anterior scalloping of vertebral bodies','An excessive concavity of the anterior surface of one or more vertebral bodies.'),('HP:0004581','Increased anterior vertebral height',''),('HP:0004582','Irregularity of vertebral bodies',''),('HP:0004586','Biconcave vertebral bodies','Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.'),('HP:0004589','Dysplasia of second lumbar vertebra',''),('HP:0004590','Hypoplastic sacrum',''),('HP:0004591','Disc-like vertebral bodies',''),('HP:0004592','Thoracic platyspondyly','A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.'),('HP:0004594','Hump-shaped mound of bone in central and posterior portions of vertebral endplate',''),('HP:0004598','Supernumerary vertebral ossification centers','Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.'),('HP:0004599','Absent or minimally ossified vertebral bodies',''),('HP:0004601','Spina bifida occulta at L5','The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.'),('HP:0004602','Cervical C2/C3 vertebral fusion','Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.'),('HP:0004603','Hyperconvex vertebral body endplates',''),('HP:0004605','Absent vertebral body mineralization','A lack of bone mineralization of the vertebral bodies.'),('HP:0004606','Unossified vertebral bodies','A lack of ossification of the vertebral bodies.'),('HP:0004607','Anterior beaking of lower thoracic vertebrae','Anterior tongue-like protrusions of the lower thoracic vertebral bodies.'),('HP:0004608','Anteriorly placed odontoid process','Anterior mislocalization of the dens of the axis.'),('HP:0004609','Patchy distortion of vertebrae',''),('HP:0004610','Lumbar spinal canal stenosis','An abnormal narrowing of the lumbar spinal canal.'),('HP:0004611','Anterior concavity of thoracic vertebrae',''),('HP:0004614','Spina bifida occulta at S1','The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.'),('HP:0004616','Cleft vertebral arch','A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.'),('HP:0004617','Butterfly vertebral arch','Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.'),('HP:0004618','Sandwich appearance of vertebral bodies',''),('HP:0004619','Lumbar kyphoscoliosis',''),('HP:0004621','Enlarged vertebral pedicles','Increased size of the vertebral pedicle.'),('HP:0004622','Progressive intervertebral space narrowing','A progressive form of decreased height of the intervertebral disk.'),('HP:0004625','Biconvex vertebral bodies','Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.'),('HP:0004626','Lumbar scoliosis',''),('HP:0004629','Small cervical vertebral bodies','Reduced size of cervical vertebrae.'),('HP:0004630','Anterior beaking of thoracic vertebrae','Anterior tongue-like protrusions of thoracic vertebral bodies.'),('HP:0004631','Decreased cervical spine flexion due to contractures of posterior cervical muscles',''),('HP:0004632','Cervical segmentation defect','An abnormality related to a defect of vertebral separation of cervical vertebrae during development.'),('HP:0004633','Lower thoracic kyphosis','Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.'),('HP:0004634','Cuboid-shaped vertebral bodies',''),('HP:0004635','Cervical C5/C6 vertebrae fusion','Fusion of the C5 and C6 cervical vertebrae.'),('HP:0004637','Decreased cervical spine mobility',''),('HP:0004639','Elevated amniotic fluid alpha-fetoprotein','An elevation of alpha-feto protein measured in the amniotic fluid.'),('HP:0004646','Hypoplasia of the nasal bone','Underdevelopment of the nasal bone.'),('HP:0004660','Hypoplasia of facial musculature','Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0004661','Frontalis muscle weakness','Reduced strength of the frontalis muscle (which is located on the forehead).'),('HP:0004664','Facial midline hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.'),('HP:0004673','Decreased facial expression','A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.'),('HP:0004676','Prominent supraorbital arches in adult',''),('HP:0004679','Large tarsal bones',''),('HP:0004681','Deep longitudinal plantar crease','Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.'),('HP:0004684','Talipes valgus','Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.'),('HP:0004686','Short third metatarsal','Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.'),('HP:0004688','Irregular tarsal bones',''),('HP:0004689','Short fourth metatarsal','Short fourth metatarsal bone.'),('HP:0004690','Thickened Achilles tendon','An abnormal thickening of the Achilles tendon.'),('HP:0004691','2-3 toe syndactyly','Syndactyly with fusion of toes two and three.'),('HP:0004692','4-5 toe syndactyly','Syndactyly with fusion of toes four and five.'),('HP:0004695','Calcaneal epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.'),('HP:0004696','Talipes cavus equinovarus',''),('HP:0004699','Osteoporotic metatarsal','Decrease in mass and density of the metatarsal bones.'),('HP:0004704','Short fifth metatarsal','Short (hypoplastic) fifth metatarsal bone.'),('HP:0004712','Renal malrotation','An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.'),('HP:0004713','Reversible renal failure','Acute renal failure with resolution of manifestations.'),('HP:0004717','Axial malrotation of the kidney','An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.'),('HP:0004719','Hyperechogenic kidneys','An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.'),('HP:0004722','Thickening of the glomerular basement membrane','Increase in thickness of the basal lamina of the glomerulus of the kidney.'),('HP:0004724','Calcium nephrolithiasis','The presence of calcium-containing calculi (stones) in the kidneys.'),('HP:0004727','Impaired renal concentrating ability','A defect in the ability to concentrate the urine.'),('HP:0004729','Acute tubulointerstitial nephritis','Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.'),('HP:0004732','Impaired renal uric acid clearance','A reduction in the ability of the kidneys to remove uric acid from the serum.'),('HP:0004734','Renal cortical microcysts','Cysts of microscopic size confined to the cortex of the kidney.'),('HP:0004736','Crossed fused renal ectopia','A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.'),('HP:0004737','Global glomerulosclerosis','Complete and diffuse scarring of glomerulus.'),('HP:0004742','Abnormal renal collecting system morphology','An abnormality of the renal collecting system.'),('HP:0004743','Chronic tubulointerstitial nephritis','Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.'),('HP:0004746','Glomerular subendothelial electron-dense deposits','Electron dense deposits at the glomerular basement membrane,'),('HP:0004749','Atrial flutter','A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.'),('HP:0004751','Paroxysmal ventricular tachycardia','Episodes of ventricular tachycardia that have a sudden onset and ending.'),('HP:0004752','Congenital atrioventricular dissociation','A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.'),('HP:0004754','Permanent atrial fibrillation','AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.'),('HP:0004755','Supraventricular tachycardia','Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.'),('HP:0004756','Ventricular tachycardia','A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).'),('HP:0004757','Paroxysmal atrial fibrillation','Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.'),('HP:0004758','Effort-induced polymorphic ventricular tachycardia','Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.'),('HP:0004759','obsolete Nodular calcific aortic valve disease',''),('HP:0004760','obsolete Congenital septal defect',''),('HP:0004761','Post-angioplasty coronary artery restenosis',''),('HP:0004762','Hypoplasia of right ventricle','Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.'),('HP:0004763','Paroxysmal supraventricular tachycardia','An episodic form of supraventricular tachycardia with abrupt onset and termination.'),('HP:0004764','Myxomatous mitral valve degeneration','Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.'),('HP:0004768','Sparse anterior scalp hair','Decreased number of head hairs per unit area on the anterior region of the scalp.'),('HP:0004771','Premature graying of body hair',''),('HP:0004779','Brittle scalp hair','Fragile, easily breakable scalp hair.'),('HP:0004780','Elbow hypertrichosis','Excessive, increased hair growth located in the elbow region.'),('HP:0004782','obsolete Hypotrichosis of the scalp',''),('HP:0004783','Duodenal polyposis','Presence of multiple polyps in the duodenum.'),('HP:0004784','Juvenile gastrointestinal polyposis','The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.'),('HP:0004785','Malrotation of colon','An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.'),('HP:0004786','Jejunal diverticula',''),('HP:0004787','Fulminant hepatitis','Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.'),('HP:0004788','Intestinal lymphedema','Fluid retention and edema in the intestine caused by a compromised lymphatic system.'),('HP:0004789','Lactose intolerance','An inability to digest lactose.'),('HP:0004790','Hypoplasia of the small intestine','Underdevelopment of the small intestine.'),('HP:0004791','Esophageal ulceration','Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.'),('HP:0004792','Rectoperineal fistula','The presence of a fistula between the perineum and the rectum.'),('HP:0004794','Malrotation of small bowel','A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.'),('HP:0004795','Hamartomatous stomach polyps','Polyp-like protrusions which are histologically hamartomas located in the stomach.'),('HP:0004796','Gastrointestinal obstruction',''),('HP:0004797','Multiple small bowel atresias','The presence of multiple areas of atresia affecting the small intestine.'),('HP:0004798','Recurrent infection of the gastrointestinal tract','Recurrent infection of the gastrointestinal tract.'),('HP:0004799','Jejunoileal diverticula',''),('HP:0004800','Duodenal diverticula',''),('HP:0004802','Episodic hemolytic anemia','A form of hemolytic anemia that occurs in repeated episodes.'),('HP:0004804','Congenital hemolytic anemia','A form of hemolytic anemia with congenital onset.'),('HP:0004808','Acute myeloid leukemia','A form of leukemia characterized by overproduction of an early myeloid cell.'),('HP:0004809','Neonatal alloimmune thrombocytopenia','Low platelet count associated with maternal platelet-specific alloantibodies.'),('HP:0004810','Congenital hypoplastic anemia','A type of hypoplastic anemia with congenital onset.'),('HP:0004812','B Acute Lymphoblastic Leukemia','A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.'),('HP:0004813','Post-transfusion thrombocytopenia','Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.'),('HP:0004814','Fava bean-induced hemolytic anemia','A kind of hemolytic anemia that is induced by the ingestion of fava beans.'),('HP:0004817','Drug-sensitive hemolytic anemia','A form of hemolytic anemia that is triggered by ingestion of certain drugs.'),('HP:0004818','Paroxysmal nocturnal hemoglobinuria',''),('HP:0004819','Normocytic hypoplastic anemia','A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).'),('HP:0004820','Acute myelomonocytic leukemia','An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.'),('HP:0004821','Hypersegmentation of neutrophil nuclei','An excessive division of the lobes of the nucleus of a neutrophil.'),('HP:0004822','Atypical elliptocytosis',''),('HP:0004823','Anisopoikilocytosis','A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.'),('HP:0004825','Increased hemoglobin oxygen affinity','An abnormal increase in the binding affinity of hemoglobin for oxygen.'),('HP:0004826','Folate-unresponsive megaloblastic anemia','A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.'),('HP:0004828','Refractory anemia with ringed sideroblasts','A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.'),('HP:0004831','Recurrent thromboembolism','Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.'),('HP:0004835','Microspherocytosis','The presence of erythrocytes that are sphere-shaped and reduced in size.'),('HP:0004836','Acute promyelocytic leukemia','A type of acute myeloid leukemia in which abnormal promyelocytes predominate.'),('HP:0004839','Pyropoikilocytosis','A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.'),('HP:0004840','Hypochromic microcytic anemia','A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.'),('HP:0004841','Reduced factor XII activity','Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.'),('HP:0004844','Coombs-positive hemolytic anemia','A type of hemolytic anemia in which the Coombs test is positive.'),('HP:0004845','Acute monocytic leukemia','The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.'),('HP:0004846','Prolonged bleeding after surgery','Bleeding that persists longer than the normal time following a surgical procedure.'),('HP:0004848','Ph-positive acute lymphoblastic leukemia','A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.'),('HP:0004850','Recurrent deep vein thrombosis','Repeated episodes of the formation of a blot clot in a deep vein.'),('HP:0004851','Folate-responsive megaloblastic anemia','A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.'),('HP:0004852','Reduced leukocyte alkaline phosphatase','Decreased alkaline phosphatase measured within leukocytes.'),('HP:0004854','Intermittent thrombocytopenia','Reduced platelet count that occurs sporadically, i.e., it comes and goes.'),('HP:0004855','Reduced protein S activity','An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.'),('HP:0004856','Normochromic microcytic anemia','A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.'),('HP:0004857','Hyperchromic macrocytic anemia','A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.'),('HP:0004859','Amegakaryocytic thrombocytopenia','Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.'),('HP:0004860','Thiamine-responsive megaloblastic anemia','A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.'),('HP:0004861','Refractory macrocytic anemia',''),('HP:0004863','Compensated hemolytic anemia',''),('HP:0004864','Refractory sideroblastic anemia','A type of sideroblastic anemia that is not responsive to treatment.'),('HP:0004866','Impaired ADP-induced platelet aggregation','Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.'),('HP:0004870','Chronic hemolytic anemia','An chronic form of hemolytic anemia.'),('HP:0004871','Perineal fistula','The presence of a fistula between the bowel and the perineum.'),('HP:0004872','Incisional hernia','An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.'),('HP:0004875','Neonatal inspiratory stridor',''),('HP:0004876','Spontaneous neonatal pneumothorax','Pneumothorax occurring neonatally without traumatic injury to the chest or lung.'),('HP:0004878','Intercostal muscle weakness','Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.'),('HP:0004879','Intermittent hyperventilation','Episodic hyperventilation.'),('HP:0004880','Respiratory infections in early life','Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.'),('HP:0004881','Episodic hypoventilation',''),('HP:0004885','Episodic respiratory distress',''),('HP:0004886','Congenital laryngeal stridor',''),('HP:0004887','Respiratory failure requiring assisted ventilation','A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.'),('HP:0004889','Intermittent episodes of respiratory insufficiency due to muscle weakness',''),('HP:0004890','Elevated pulmonary artery pressure','An abnormally elevated blood pressure in the circulation of the pulmonary artery.'),('HP:0004891','Recurrent infections due to aspiration','Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.'),('HP:0004894','Laryngotracheal stenosis',''),('HP:0004897','Stress/infection-induced lactic acidosis','A form of lactic acidemia that occurs in relation to stress or infection.'),('HP:0004898','Persistent lactic acidosis','A continuous form of lactic acidemia.'),('HP:0004900','Severe lactic acidosis','A severe form of lactic acidemia.'),('HP:0004901','Exercise-induced lactic acidemia','A form of lactic acidemia that occurs following exercise or exertion.'),('HP:0004902','Congenital lactic acidosis','A form of lactic acidemia with congenital onset.'),('HP:0004904','Maturity-onset diabetes of the young','The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.'),('HP:0004905','Low levels of vitamin A','A reduced concentration of vitamin A.'),('HP:0004906','Hypernatremic dehydration',''),('HP:0004909','Hypokalemic hypochloremic metabolic alkalosis',''),('HP:0004910','Bicarbonate-wasting renal tubular acidosis',''),('HP:0004911','Episodic metabolic acidosis','Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.'),('HP:0004912','Hypophosphatemic rickets',''),('HP:0004913','Intermittent lactic acidemia','An intermittent (discontinuous) form of lactic acidemia.'),('HP:0004914','Recurrent infantile hypoglycemia','Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.'),('HP:0004915','Impairment of galactose metabolism','An impairment of galactose metabolism.'),('HP:0004916','Generalized distal tubular acidosis',''),('HP:0004918','Hyperchloremic metabolic acidosis',''),('HP:0004919','Galactose intolerance',''),('HP:0004920','Phenylpyruvic acidemia',''),('HP:0004921','Abnormal magnesium concentration','An abnormality of magnesium ion homeostasis.'),('HP:0004922','Atypical hyperphenylalaninemia',''),('HP:0004923','Hyperphenylalaninemia','An increased concentration of L-phenylalanine in the blood.'),('HP:0004924','Abnormal oral glucose tolerance','An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.'),('HP:0004925','Chronic lactic acidosis','A chronic form of lactic acidemia.'),('HP:0004926','Orthostatic hypotension due to autonomic dysfunction',''),('HP:0004927','Pulmonary artery dilatation','An abnormal widening of the diameter of the pulmonary artery.'),('HP:0004928','obsolete Peripheral arterial stenosis',''),('HP:0004929','obsolete Coronary atherosclerosis',''),('HP:0004930','Abnormality of the pulmonary vasculature',''),('HP:0004931','Arteriosclerosis of small cerebral arteries','Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.'),('HP:0004933','Ascending aortic dissection','A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.'),('HP:0004934','Vascular calcification','Abnormal calcification of the vasculature.'),('HP:0004935','Pulmonary artery atresia','A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.'),('HP:0004936','Venous thrombosis','Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.'),('HP:0004937','Pulmonary artery aneurysm','An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.'),('HP:0004938','Tortuous cerebral arteries','Excessive bending, twisting, and winding of a cerebral artery.'),('HP:0004940','Generalized arterial calcification','Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.'),('HP:0004941','Extrahepatic portal hypertension','Increased pressure in the pre-hepatic portal vein.'),('HP:0004942','Aortic aneurysm','Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.'),('HP:0004943','Accelerated atherosclerosis','Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.'),('HP:0004944','Dilatation of the cerebral artery','The presence of a localized dilatation or ballooning of a cerebral artery.'),('HP:0004945','Extracranial internal carotid artery dissection','A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.'),('HP:0004947','Arteriovenous fistula','An abnormal connection between an artery and vein.'),('HP:0004948','Vascular tortuosity','Abnormal twisting of arteries or veins.'),('HP:0004950','Peripheral arterial stenosis','Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.'),('HP:0004952','Pulmonary arteriovenous fistulas','A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.'),('HP:0004953','obsolete Dilatation of abdominal aorta',''),('HP:0004954','obsolete Dilatation of the descending aorta',''),('HP:0004955','Generalized arterial tortuosity','Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.'),('HP:0004959','Descending thoracic aorta aneurysm','An abnormal localized widening (dilatation) of the descending thoracic aorta.'),('HP:0004960','Absent pulmonary artery','A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.'),('HP:0004961','Pulmonary artery sling','An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.'),('HP:0004962','Thoracic aorta calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.'),('HP:0004963','Calcification of the aorta','Calcification, that is, pathological deposition of calcium salts in the aorta.'),('HP:0004964','Pulmonary arterial medial hypertrophy','Increase in mass of the tunica media of the arteries in the pulmonary circulation.'),('HP:0004966','Medial calcification of large arteries','Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.'),('HP:0004968','Recurrent cerebral hemorrhage','Recurrent bleeding into the parenchyma of the brain.'),('HP:0004969','Peripheral pulmonary artery stenosis','Stenosis of a peripheral branch of the pulmonary artery.'),('HP:0004970','Ascending tubular aorta aneurysm','An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.'),('HP:0004971','Pulmonary artery hypoplasia','Underdevelopment of the pulmonary artery.'),('HP:0004972','Elevated mean arterial pressure','An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.'),('HP:0004974','Coarctation of abdominal aorta','Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.'),('HP:0004975','Erlenmeyer flask deformity of the femurs','Flaring of distal femur.'),('HP:0004976','Knee dislocation',''),('HP:0004977','Bilateral radial aplasia','Missing radius bone on both sides associated with congenital failure of development.'),('HP:0004979','Metaphyseal sclerosis','Abnormally increased density of metaphyseal bone.'),('HP:0004980','Metaphyseal rarefaction','Reduction in density of metaphyseal bony tissue.'),('HP:0004981','Prominent styloid process of ulna',''),('HP:0004986','obsolete Rudimentary to absent fibulae',''),('HP:0004987','Mesomelic leg shortening','Shortening of the middle parts of the leg in relation to the upper and terminal segments.'),('HP:0004990','Epiphyseal streaking',''),('HP:0004991','Rhizomelic arm shortening','Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).'),('HP:0004993','Slender long bones with narrow diaphyses','Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.'),('HP:0004997','Multicentric ossification of proximal humeral epiphyses',''),('HP:0005001','Recurrent patellar dislocation','Patellar dislocation occurring repeated times.'),('HP:0005003','Aplasia/Hypoplasia of the capital femoral epiphysis','Absence or underdevelopment of the proximal epiphysis of the femur.'),('HP:0005004','Flattened proximal radial epiphyses','An abnormally flat form of the proximal epiphysis of the radius.'),('HP:0005005','Femoral bowing present at birth, straightening with time','Congenital onset bending or abnormal curvature of the femur that normalizes with age.'),('HP:0005008','Large joint dislocations',''),('HP:0005009','Dumbbell-shaped humerus','The humerus is shortened and displays flaring (widening) of the metaphyses.'),('HP:0005010','Osteomyelitis leading to amputation due to slow healing fractures',''),('HP:0005011','Mesomelic arm shortening','Shortening of the middle parts of the arm in relation to the upper and terminal segments.'),('HP:0005013','Dysplastic distal radial epiphyses','Abnormally developed (dysplastic) distal epiphysis of the radius.'),('HP:0005017','Polyarticular chondrocalcinosis',''),('HP:0005019','Diaphyseal thickening',''),('HP:0005021','Bilateral elbow dislocations',''),('HP:0005025','Hypoplastic distal humeri','Underdevelopment of the distal portion of the humerus.'),('HP:0005026','Mesomelic/rhizomelic limb shortening',''),('HP:0005028','Widened proximal tibial metaphyses',''),('HP:0005033','Distal ulnar hypoplasia','Underdevelopment of the distal portion of the ulna.'),('HP:0005035','Shortening of all phalanges of the toes','Developmental hypoplasia (shortening) of all phalanges of the foot.'),('HP:0005036','Unilateral ulnar hypoplasia','Underdevelopment of the ulna on only one side.'),('HP:0005037','Proximal radio-ulnar synostosis','An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.'),('HP:0005039','Multiple long-bone exostoses','Multiple exostoses originating in long bones.'),('HP:0005041','Irregular capital femoral epiphysis','Irregular surface of the normally relatively smooth capital femoral epiphysis.'),('HP:0005042','Irregular, rachitic-like metaphyses',''),('HP:0005043','Proximal humeral metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).'),('HP:0005045','Diaphyseal cortical sclerosis','An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0005048','Synostosis of carpal bones',''),('HP:0005050','Anterolateral radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.'),('HP:0005054','Metaphyseal spurs','Bony outgrowths that extend laterally from the margin of the metaphysis.'),('HP:0005059','Arthralgia/arthritis',''),('HP:0005060','Limited elbow flexion/extension',''),('HP:0005063','Fragmented, irregular epiphyses',''),('HP:0005066','Cone-shaped epiphyses fused within their metaphyses',''),('HP:0005067','Proximal fibular overgrowth','Overgrowth of the proximal part of the fibula.'),('HP:0005068','Absent styloid process of ulna',''),('HP:0005069','Rhizo-meso-acromelic limb shortening',''),('HP:0005070','Proximal radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.'),('HP:0005072','Hyperextensibility at wrists','The ability of the wrist joints to move beyond their normal range of motion.'),('HP:0005084','Anterior radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.'),('HP:0005085','Limited knee flexion/extension','A limited ability of the knee joint extension and flexion.'),('HP:0005086','Knee osteoarthritis',''),('HP:0005089','Abnormal metaphyseal trabeculation','An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.'),('HP:0005090','Lateral femoral bowing','A lateral bending or abnormal curvature of the femur.'),('HP:0005092','Streaky metaphyseal sclerosis','The presence of streaks (bands) of abnormally increased density of metaphyseal bone.'),('HP:0005093','Absent proximal radial epiphyses','Absence of the proximal radial epiphysis.'),('HP:0005096','Distal femoral bowing','A bending or abnormal curvature of the distal portion of the femur.'),('HP:0005099','Severe hydrops fetalis',''),('HP:0005100','Premature birth following premature rupture of fetal membranes',''),('HP:0005101','High-frequency hearing impairment','A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).'),('HP:0005102','Cochlear degeneration','Deterioration or loss of the tissues of the cochlea.'),('HP:0005103','Calcification of the auricular cartilage','Ossification affecting the external ear cartilage.'),('HP:0005104','Hypoplastic nasal septum','Underdevelopment of the nasal septum.'),('HP:0005105','Abnormal nasal morphology',''),('HP:0005106','Abnormality of the vertebral endplates','Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.'),('HP:0005107','Abnormal sacrum morphology','An abnormality of the sacral bone.'),('HP:0005108','Abnormality of the intervertebral disk','An abnormality of the intervertebral disk.'),('HP:0005109','Abnormality of the Achilles tendon','An abnormality of the Achilles tendon.'),('HP:0005110','Atrial fibrillation','An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.'),('HP:0005111','obsolete Dilatation of the ascending aorta',''),('HP:0005112','Abdominal aortic aneurysm','An abnormal localized widening (dilatation) of the abdominal aorta.'),('HP:0005113','Aortic arch aneurysm','An abnormal localized widening (dilatation) of the aortic arch.'),('HP:0005114','obsolete Abnormalities of the peripheral arteries',''),('HP:0005115','Supraventricular arrhythmia','A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.'),('HP:0005116','Arterial tortuosity','Abnormal tortuous (i.e., twisted) form of arteries.'),('HP:0005117','Elevated diastolic blood pressure','Abnormal increase in diastolic blood pressure.'),('HP:0005120','Abnormal cardiac atrium morphology','Any structural abnormality of a cardiac atrium.'),('HP:0005121','Posterior scalloping of vertebral bodies','An excessive concavity of the posterior surface of one or more vertebral bodies.'),('HP:0005129','Congenital hypertrophy of left ventricle',''),('HP:0005130','obsolete Restrictive heart failure',''),('HP:0005132','Pericardial constriction','Compression of the heart caused by rigid, thickened, or fused pericardial membranes.'),('HP:0005133','Right ventricular dilatation','Enlargement of the chamber of the right ventricle.'),('HP:0005134','Absence of the pulmonary valve','Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.'),('HP:0005135','Abnormal T-wave','An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.'),('HP:0005136','Mitral annular calcification','Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.'),('HP:0005141','obsolete Episodes of ventricular tachycardia',''),('HP:0005143','Anomalous origin of right pulmonary artery from ascending aorta','The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.'),('HP:0005144','Ventricular septal hypertrophy','The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.'),('HP:0005145','Coronary artery stenosis','Abnormal narrowing of the coronary artery.'),('HP:0005146','Cardiac valve calcification','Abnormal calcification of a cardiac valve.'),('HP:0005147','Bidirectional ventricular ectopy',''),('HP:0005148','Pulmonary valve defects','Any defect in the valve connecting the heart and the pulmonary artery.'),('HP:0005150','Abnormal atrioventricular conduction','An impairment of the electrical continuity between the atria and ventricles.'),('HP:0005151','Preductal coarctation of the aorta','Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.'),('HP:0005152','Histiocytoid cardiomyopathy','A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.'),('HP:0005155','Ventricular escape rhythm','A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).'),('HP:0005156','Hypoplastic left atrium','Underdeveloped, small left heart atrium'),('HP:0005157','Concentric hypertrophic cardiomyopathy','Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.'),('HP:0005160','Total anomalous pulmonary venous return','Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.'),('HP:0005162','Left ventricular dysfunction','Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.'),('HP:0005164','Dysplastic pulmonary valve','A congenital malformation of the pulmonary valve characterized by leaflet deformation.'),('HP:0005165','Shortened PR interval','Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.'),('HP:0005168','Elevated right atrial pressure','An abnormal increase in magnitude of the pressure in the right atrium.'),('HP:0005170','Complete heart block with broad QRS complexes','A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.'),('HP:0005172','Left posterior fascicular block','Conduction block in the posterior division of the left bundle branch of the bundle of His.'),('HP:0005173','obsolete Calcific aortic valve stenosis',''),('HP:0005174','Membranous subvalvular aortic stenosis','Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.'),('HP:0005176','Dysplastic aortic valve','A congenital malformation of the aortic valve characterized by leaflet deformation.'),('HP:0005177','Premature arteriosclerosis','Arteriosclerosis occurring at an age that is younger than usual.'),('HP:0005178','Complete heart block with narrow QRS complexes','A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.'),('HP:0005180','Tricuspid regurgitation','Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.'),('HP:0005181','Premature coronary artery atherosclerosis','Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.'),('HP:0005182','Bicuspid pulmonary valve','The presence of a bicuspid pulmonary valve.'),('HP:0005183','Pericardial lymphangiectasia','An abnormal dilatation of lymph vessels in the pericardium.'),('HP:0005184','Prolonged QTc interval','A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart`s cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.'),('HP:0005185','Global systolic dysfunction','A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.'),('HP:0005186','Synovial hypertrophy',''),('HP:0005187','Progressive joint destruction',''),('HP:0005190','Proximal finger joint hyperextensibility',''),('HP:0005191','Congenital knee dislocation',''),('HP:0005193','Restricted large joint movement',''),('HP:0005194','Flattened metatarsal heads','Abnormally flat shape of the heads of the metatarsal bones.'),('HP:0005195','Polyarticular arthropathy',''),('HP:0005197','Generalized morning stiffness','A sensation of stiffness in the joints that occurs following waking up in the morning.'),('HP:0005198','Stiff interphalangeal joints','Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.'),('HP:0005199','Aplasia of the abdominal wall musculature','Absence of the abdominal musculature.'),('HP:0005200','Retroperitoneal fibrosis',''),('HP:0005201','Anomalous splenoportal venous system',''),('HP:0005202','Helicobacter pylori infection','A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.'),('HP:0005203','Spontaneous esophageal perforation','The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.'),('HP:0005206','Pancreatic pseudocyst','Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.'),('HP:0005207','Gastric hypertrophy','Hypertrophy of the stomach.'),('HP:0005208','Secretory diarrhea','Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.'),('HP:0005209','Intrahepatic bile duct cysts','The presence of cyst of the intrahepatic bile duct.'),('HP:0005210','Hypoplastic colon','Underdevelopment of the colon.'),('HP:0005211','Midgut malrotation',''),('HP:0005212','Anal mucosal leukoplakia','Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized` patches in the anal canal. Tissue biopsy is necessary for confirmation.'),('HP:0005213','Pancreatic calcification','The presence of abnormal calcium deposition lesions in the pancreas.'),('HP:0005214','Intestinal obstruction','Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.'),('HP:0005215','Frequent Giardia lamblia infestation','Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.'),('HP:0005216','Impaired mastication','An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.'),('HP:0005217','Duplication of internal organs',''),('HP:0005218','Anoperineal fistula','The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.'),('HP:0005219','Absence of intrinsic factor','Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.'),('HP:0005220','Multiple intestinal neurofibromatosis',''),('HP:0005222','Bowel diverticulosis','The presence of multiple diverticula of the intestine.'),('HP:0005223','Duplicated colon',''),('HP:0005224','Rectal abscess','A collection of pus in the area of the rectum.'),('HP:0005225','Intestinal edema','Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.'),('HP:0005227','Adenomatous colonic polyposis','Presence of multiple adenomatous polyps in the colon.'),('HP:0005229','Jejunoileal ulceration',''),('HP:0005230','Biliary tract obstruction','Obstruction affecting the biliary tree.'),('HP:0005231','Chronic gastritis','A chronic form of gastritis.'),('HP:0005232','Pancreatic dysplasia','The presence of developmental dysplasia of the pancreas.'),('HP:0005233','Hypoplasia of the gallbladder','The presence of a hypoplastic gallbladder.'),('HP:0005234','Neonatal intestinal obstruction',''),('HP:0005235','Jejunal atresia','A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.'),('HP:0005236','Chronic calcifying pancreatitis','A form of chronic pancreatitis that is characterized by calcification.'),('HP:0005237','Degenerative liver disease','The presence of degenerative changes of the liver.'),('HP:0005238','Discrete intestinal polyps',''),('HP:0005240','Esophageal obstruction',''),('HP:0005241','Total intestinal aganglionosis','A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.'),('HP:0005242','Extrahepatic biliary duct atresia','Atresia in the extrahepatic bile duct.'),('HP:0005243','Partial abdominal muscle agenesis','Failure to form of portions of the abdominal musculature.'),('HP:0005244','Gastrointestinal infarctions',''),('HP:0005245','Intestinal hypoplasia','Developmental hypoplasia of the intestine.'),('HP:0005246','Giant hypertrophic gastritis','A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.'),('HP:0005247','Hypoplasia of the abdominal wall musculature','Underdevelopment of the abdominal musculature.'),('HP:0005248','Intrahepatic biliary atresia','Atresia in the intrahepatic bile duct.'),('HP:0005249','Functional intestinal obstruction',''),('HP:0005250','High intestinal obstruction',''),('HP:0005253','Increased anterioposterior diameter of thorax',''),('HP:0005254','Unilateral chest hypoplasia',''),('HP:0005255','Absence of pectoralis minor muscle','Aplasia (congenital absence) of the pectoralis minor.'),('HP:0005256','Unilateral absence of pectoralis major muscle','Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.'),('HP:0005257','Thoracic hypoplasia',''),('HP:0005258','Pectoral muscle hypoplasia/aplasia',''),('HP:0005259','Abnormal facility in opposing the shoulders',''),('HP:0005261','Joint hemorrhage','Hemorrhage occurring within a joint.'),('HP:0005262','Abnormality of the synovia',''),('HP:0005263','Gastritis','The presence of inflammation of the gastric mucous membrane.'),('HP:0005264','Abnormality of the gallbladder','An abnormality of the gallbladder.'),('HP:0005265','Abnormality of the jejunum','An abnormality of the jejunum, i.e., of the middle section of the small intestine.'),('HP:0005266','Intestinal polyp','A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.'),('HP:0005267','Premature delivery because of cervical insufficiency or membrane fragility',''),('HP:0005268','Spontaneous abortion','A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy.'),('HP:0005272','Prominent nasolabial fold','Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).'),('HP:0005273','Absent nasal septal cartilage','Lack of the cartilage of the nasal septum.'),('HP:0005274','Prominent nasal tip',''),('HP:0005275','Cartilaginous ossification of nose',''),('HP:0005278','Hypoplastic nasal tip',''),('HP:0005280','Depressed nasal bridge','Posterior positioning of the nasal root in relation to the overall facial profile for age.'),('HP:0005281','Hypoplastic nasal bridge',''),('HP:0005285','Absent nasal bridge',''),('HP:0005288','Abnormality of the nares','Abnormality of the nostril.'),('HP:0005289','Abnormality of the nasolabial region',''),('HP:0005290','Internal carotid artery hypoplasia',''),('HP:0005291','Inflammatory arteriopathy',''),('HP:0005292','Intimal thickening in the coronary arteries',''),('HP:0005293','Venous insufficiency',''),('HP:0005294','Arterial dissection','A separation (dissection) of the layers of an artery.'),('HP:0005295','Pseudocoarctation of the aorta','Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.'),('HP:0005296','obsolete Occlusive vascular disease',''),('HP:0005297','Premature occlusive vascular stenosis','Peripheral arterial stenosis with onset before the age of 50 years.'),('HP:0005298','obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia',''),('HP:0005299','obsolete Premature peripheral vascular disease',''),('HP:0005300','Nodular inflammatory vasculitis',''),('HP:0005301','Persistent left superior vena cava','A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.'),('HP:0005302','Carotid artery tortuosity','Abnormal tortuous (i.e., twisted) form of the carotid arteries.'),('HP:0005303','Aortic arch calcification','Calcification, that is, pathological deposition of calcium salts in the arch of aorta.'),('HP:0005304','Hypoplastic pulmonary veins',''),('HP:0005305','Cerebral venous thrombosis','Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.'),('HP:0005306','Capillary hemangioma','The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.'),('HP:0005307','Postural hypotension with compensatory tachycardia',''),('HP:0005308','Pulmonary artery vasoconstriction',''),('HP:0005309','obsolete Peripheral vascular insufficiency',''),('HP:0005310','Large vessel vasculitis','A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.'),('HP:0005311','Agenesis of pulmonary vessels',''),('HP:0005312','Pulmonary aterial intimal fibrosis','Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.'),('HP:0005313','Arterial fibromuscular dysplasia','An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.'),('HP:0005314','Anomalous branches of internal carotid artery',''),('HP:0005315','obsolete Peripheral artery occlusive disease',''),('HP:0005316','Peripheral pulmonary vessel aplasia',''),('HP:0005317','Increased pulmonary vascular resistance',''),('HP:0005318','Cerebral vasculitis','Inflammation of the blood vessels within the brain.'),('HP:0005320','Lack of facial subcutaneous fat',''),('HP:0005321','Mandibulofacial dysostosis','A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.'),('HP:0005322','Prominent nasal septum',''),('HP:0005323','Hemifacial hypertrophy','Unilateral overgrowth of facial tissues, including muscles, bones and skin.'),('HP:0005324','Disturbance of facial expression','An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.'),('HP:0005325','Extension of hair growth on temples to lateral eyebrow','A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.'),('HP:0005326','Hypoplastic philtrum','Underdevelopment of the philtrum.'),('HP:0005327','Loss of facial expression',''),('HP:0005328','Progeroid facial appearance','A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.'),('HP:0005329','Fixed facial expression',''),('HP:0005332','Recurrent mandibular subluxations','Recurrent partial dislocations of the mandible.'),('HP:0005335','Sleepy facial expression',''),('HP:0005336','Forehead hyperpigmentation',''),('HP:0005338','Sparse lateral eyebrow','Decreased density/number and/or decreased diameter of lateral eyebrow hairs.'),('HP:0005339','Abnormality of complement system','An abnormality of the complement system.'),('HP:0005340','Spastic/hyperactive bladder',''),('HP:0005341','Autonomic bladder dysfunction','Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.'),('HP:0005343','Hypoplasia of the bladder','Underdevelopment of the urinary bladder.'),('HP:0005344','Abnormal carotid artery morphology','Any structural abnormality of the carotid arteries, including the common carotid artery and its` arterial branches.'),('HP:0005345','Abnormal vena cava morphology','An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.'),('HP:0005346','Abnormal facial expression',''),('HP:0005347','Cartilaginous trachea',''),('HP:0005348','Inspiratory stridor','Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.'),('HP:0005349','Hypoplasia of the epiglottis','Hypoplasia of the epiglottis.'),('HP:0005352','Severe T-cell immunodeficiency','A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.'),('HP:0005353','Recurrent herpes','Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.'),('HP:0005354','Lack of T cell function','Complete inability of T cells to perform their functions in cell-mediated immunity.'),('HP:0005356','Decreased serum complement factor I','A reduced level of the complement component Factor I in circulation.'),('HP:0005357','Defective B cell differentiation','Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.'),('HP:0005359','Aplasia of the thymus','Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.'),('HP:0005360','Susceptibility to chickenpox','Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.'),('HP:0005363','Humoral immunodeficiency','A general term referring to a defect in immunity resulting from impaired antibody production.'),('HP:0005364','obsolete Severe viral infections',''),('HP:0005365','Severe B lymphocytopenia','A severe form of B lymphocytopenia in which the count of B cells is very low or absent.'),('HP:0005366','Recurrent streptococcus pneumoniae infections','Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.'),('HP:0005368','Abnormality of humoral immunity','An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.'),('HP:0005369','Decreased serum complement factor H','A reduced level of the complement component Factor H in circulation.'),('HP:0005372','Abnormality of B cell physiology','An abnormality of the physiological functioning of B cells.'),('HP:0005374','Cellular immunodeficiency','An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.'),('HP:0005375','obsolete Partial cellular immunodeficiency',''),('HP:0005376','Recurrent Haemophilus influenzae infections','Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.'),('HP:0005379','obsolete Severe T lymphocytopenia',''),('HP:0005381','Recurrent meningococcal disease','Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.'),('HP:0005384','Defective B cell activation','A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of'),('HP:0005386','Recurrent protozoan infections','Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.'),('HP:0005387','Combined immunodeficiency','A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.'),('HP:0005389','Depletion of components of the alternative complement pathway','An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.'),('HP:0005390','Recurrent opportunistic infections','Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.'),('HP:0005396','Susceptibility to coronavirus 229e','Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.'),('HP:0005397','obsolete Exaggerated cellular immune processes',''),('HP:0005400','Reduction of neutrophil motility','An abnormal reduction of the cell motility of neutrophils.'),('HP:0005401','Recurrent candida infections','An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.'),('HP:0005402','obsolete Primary T-lymphocyte immune abnormalities',''),('HP:0005403','Decrease in T cell count','An abnormally low count of T cells.'),('HP:0005404','Increased B cell count','An abnormal increase from the normal count of B cells.'),('HP:0005406','Recurrent bacterial skin infections','Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.'),('HP:0005407','Decreased proportion of CD4-positive helper T cells','A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.'),('HP:0005409','obsolete Markedly reduced T cell function',''),('HP:0005411','Chronic intestinal candidiasis','Persistent overgrowth of Candida albicans in the gastrointestinal tract.'),('HP:0005413','Increased alpha-globulin','An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.'),('HP:0005415','Decreased proportion of CD8-positive T cells','A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.'),('HP:0005416','Decreased serum complement factor B','A reduced level of the complement component factor B in circulation.'),('HP:0005419','Decreased T cell activation','Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.'),('HP:0005420','Recurrent gram-negative bacterial infections','Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.'),('HP:0005421','Decreased serum complement C3','A reduced level of the complement component C3 in circulation.'),('HP:0005422','Absence of CD8-positive T cells','Lack of detectible CD8-positive T cells'),('HP:0005423','Dysfunctional alternative complement pathway','An abnormality of the functioning of any aspect of the alternative complement pathway.'),('HP:0005424','Absent specific antibody response','Absence of specific immunoglobulins directed against a specific antigen or microorganism.'),('HP:0005425','Recurrent sinopulmonary infections','An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.'),('HP:0005428','Severe recurrent varicella',''),('HP:0005429','Recurrent systemic pyogenic infections','Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.'),('HP:0005430','Recurrent Neisserial infections','Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).'),('HP:0005432','Transient hypogammaglobulinemia of infancy','At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.'),('HP:0005435','Impaired T cell function','Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.'),('HP:0005437','Recurrent infections in infancy and early childhood','Recurrent infections at an early age with improvement in later childhood.'),('HP:0005439','Maxillozygomatic hypoplasia','Hypoplasia of the maxillozygomatic complex.'),('HP:0005441','Sclerotic cranial sutures','An increased density in the cranial sutures following obliteration.'),('HP:0005442','Widely patent coronal suture','The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.'),('HP:0005445','Widened posterior fossa',''),('HP:0005446','Obtuse angle of mandible','Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.'),('HP:0005449','Bridged sella turcica',''),('HP:0005450','Calvarial osteosclerosis','An increase in bone density affecting the calvaria (roof of the skull).'),('HP:0005451','Decreased cranial base ossification',''),('HP:0005453','Absent/hypoplastic paranasal sinuses','Aplasia or hypoplasia of the paranasal sinuses.'),('HP:0005456','Absent ethmoidal sinuses','Lack (aplasia) of the ethmoidal sinus.'),('HP:0005458','Premature closure of fontanelles','Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.'),('HP:0005461','Craniofacial disproportion',''),('HP:0005462','Calcification of falx cerebri','The presence of calcium deposition in the falx cerebri.'),('HP:0005463','Elongated sella turcica',''),('HP:0005464','Craniofacial osteosclerosis','Abnormally increased density of craniofacial bone tissue.'),('HP:0005465','Facial hyperostosis','Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.'),('HP:0005466','Hypoplasia of the frontal bone','Underdevelopment of the frontal bone.'),('HP:0005469','Flat occiput','Reduced convexity of the occiput (posterior part of skull).'),('HP:0005472','Orbital craniosynostosis',''),('HP:0005473','Fusion of middle ear ossicles','Bony fusion of malleus, incus, and stapes.'),('HP:0005474','Decreased calvarial ossification','Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).'),('HP:0005476','Widely patent sagittal suture','The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.'),('HP:0005477','Progressive sclerosis of skull base','Progressively increasing bone density of the skull base without significant changes in bony contour.'),('HP:0005478','Prominent frontal sinuses',''),('HP:0005479','Decreased circulating IgE','An abnormally decreased level of immunoglobulin E (IgE) in blood.'),('HP:0005482','Abnormality of the alternative complement pathway','A deviation in any aspect of the alternative complement pathway.'),('HP:0005483','Abnormal epiglottis morphology','An abnormality of the epiglottis.'),('HP:0005484','Postnatal microcephaly','Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.'),('HP:0005486','Small fontanelle','A fontanelle that is small for age.'),('HP:0005487','Prominent metopic ridge','Vertical bony ridge positioned in the midline of the forehead.'),('HP:0005490','Postnatal macrocephaly','The postnatal development of an abnormally large skull (macrocephaly).'),('HP:0005494','Premature posterior fontanelle closure',''),('HP:0005495','Metopic suture patent to nasal root','The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.'),('HP:0005498','Midline skin dimples over anterior/posterior fontanelles',''),('HP:0005502','Increased red cell osmotic fragility',''),('HP:0005505','Refractory anemia',''),('HP:0005506','Chronic myelogenous leukemia','A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.'),('HP:0005507','Hemoglobin Barts','Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.'),('HP:0005508','Monoclonal immunoglobulin M proteinemia','Presence of a monoclonal immunoglobulin M protein in the serum.'),('HP:0005510','Transient erythroblastopenia','A transient reduction in the number of erythroblasts in the circulation.'),('HP:0005511','Heinz body anemia','Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.'),('HP:0005512','Impaired neutrophil killing of staphylococci','A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.'),('HP:0005513','Increased megakaryocyte count','Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.'),('HP:0005517','T-cell lymphoma/leukemia','A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.'),('HP:0005518','Increased mean corpuscular volume','Larger than normal size of erythrocytes.'),('HP:0005520','Chronic disseminated intravascular coagulation','A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.'),('HP:0005521','Disseminated intravascular coagulation','Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.'),('HP:0005522','Pyridoxine-responsive sideroblastic anemia','A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.'),('HP:0005523','Lymphoproliferative disorder',''),('HP:0005524','Macrocytic hemolytic disease',''),('HP:0005525','Spontaneous hemolytic crises',''),('HP:0005526','Lymphoid leukemia','A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.'),('HP:0005527','Reduced kininogen activity','Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.'),('HP:0005528','Bone marrow hypocellularity','A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.'),('HP:0005531','Biphenotypic acute leukemia','A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.'),('HP:0005532','Macrocytic dyserythropoietic anemia',''),('HP:0005534','Transient myeloproliferative syndrome','A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.'),('HP:0005535','Exercise-induced hemolysis','A form of hemolytic anemia that can be triggered by exertion.'),('HP:0005537','Decreased mean platelet volume','Average platelet volume below the lower limit of the normal reference interval.'),('HP:0005539','T cell chronic lymphocytic lymphoma/leukemia','A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.'),('HP:0005540','Red blood cell keratocytosis','A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.'),('HP:0005541','Congenital agranulocytosis','Congenital onset of a marked decrease in the number of granulocytes.'),('HP:0005542','Prolonged whole-blood clotting time','An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.'),('HP:0005543','Reduced protein C activity','An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.'),('HP:0005546','Increased red cell osmotic resistance',''),('HP:0005547','Myeloproliferative disorder','Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.'),('HP:0005548','Megakaryocytopenia','A reduced count of megakaryocytes.'),('HP:0005549','obsolete Congenital neutropenia','A form of neutropenia with congenital onset.'),('HP:0005550','Chronic lymphatic leukemia','A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.'),('HP:0005556','Abnormality of the metopic suture','The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\".'),('HP:0005557','Abnormality of the zygomatic arch','An abnormality of the zygomatic arch, also known as the cheek bone.'),('HP:0005558','Chronic leukemia','A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.'),('HP:0005559','Abnormality of the kinin-kallikrein system',''),('HP:0005560','Imbalanced hemoglobin synthesis','Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.'),('HP:0005561','Abnormality of bone marrow cell morphology','An anomaly of the form or number of cells in the bone marrow.'),('HP:0005562','Multiple renal cysts','The presence of many cysts in the kidney.'),('HP:0005563','Decreased numbers of nephrons','A reduction in the count of nephrons per kidney.'),('HP:0005564','Absence of renal corticomedullary differentiation','A lack of differentiation between renal cortex and medulla on diagnostic imaging.'),('HP:0005565','Reduced renal corticomedullary differentiation','Reduced differentiation between renal cortex and medulla on diagnostic imaging.'),('HP:0005567','Renal magnesium wasting','High urine magnesium in the presence of hypomagnesemia.'),('HP:0005571','Increased renal tubular phosphate reabsorption',''),('HP:0005572','Decreased renal tubular phosphate excretion',''),('HP:0005574','Non-acidotic proximal tubulopathy','A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.'),('HP:0005575','Hemolytic-uremic syndrome',''),('HP:0005576','Tubulointerstitial fibrosis','A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.'),('HP:0005579','Impaired reabsorption of chloride','Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.'),('HP:0005580','Duplication of renal pelvis','A duplication of the renal pelvis.'),('HP:0005583','Tubular basement membrane disintegration','DIsruption and breaking up of the basement membrane of the tubules of the kidney.'),('HP:0005584','Renal cell carcinoma','A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.'),('HP:0005585','Spotty hyperpigmentation',''),('HP:0005586','Hyperpigmentation in sun-exposed areas',''),('HP:0005587','Profuse pigmented skin lesions',''),('HP:0005588','Patchy palmoplantar keratoderma','A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.'),('HP:0005590','Spotty hypopigmentation',''),('HP:0005592','Giant melanosomes in melanocytes','The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.'),('HP:0005593','Macular hypopigmented whorls, streaks, and patches',''),('HP:0005595','Generalized hyperkeratosis',''),('HP:0005597','Congenital alopecia totalis','Loss of all scalp hair with congenital onset.'),('HP:0005598','Facial telangiectasia in butterfly midface distribution','Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.'),('HP:0005599','Hypopigmentation of hair',''),('HP:0005600','Congenital giant melanocytic nevus','The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.'),('HP:0005602','Progressive vitiligo',''),('HP:0005603','Numerous congenital melanocytic nevi',''),('HP:0005605','Large cafe-au-lait macules with irregular margins','Large hypermelanotic macules with jagged borders.'),('HP:0005606','Hyperpigmented nevi and streak',''),('HP:0005607','Abnormal tracheobronchial morphology',''),('HP:0005608','Bilobate gallbladder','The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.'),('HP:0005609','Gallbladder dysfunction',''),('HP:0005612','Arthrogryposis-like hand anomaly',''),('HP:0005613','Aplasia/hypoplasia of the femur','Absence or underdevelopment of the femur.'),('HP:0005616','Accelerated skeletal maturation','An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.'),('HP:0005617','Bilateral camptodactyly',''),('HP:0005619','Thoracolumbar kyphosis','Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.'),('HP:0005620','Hypermobility of interphalangeal joints','The ability of the interphalangeal joints to move beyond their normal range of motion.'),('HP:0005621','Trapezoidal shaped vertebral bodies',''),('HP:0005622','Broad long bones','Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.'),('HP:0005623','Absent ossification of calvaria','Absent ossification of the calvaria (vault of the skull).'),('HP:0005625','Osteoporosis of vertebrae','Osteoporosis affecting predominantly the vertebrae.'),('HP:0005626','Posterior fusion of lumbosacral vertebrae','Bony fusion of the posterior part of the L5 vertebral body with the sacrum.'),('HP:0005627','Type D brachydactyly','This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.'),('HP:0005632','Absent forearm',''),('HP:0005638','Decreased anterioposterior diameter of lumbar vertebral bodies',''),('HP:0005639','Hyperextensible hand joints','The ability of the joints of the hand to move beyond their normal range of motion.'),('HP:0005640','Abnormal vertebral segmentation and fusion',''),('HP:0005643','Short 3rd toe','Underdevelopment (hypoplasia) of the third toe.'),('HP:0005645','Intervertebral disk calcification','The presence of abnormal calcium deposition of the intervertebral disk.'),('HP:0005648','Bilateral ulnar hypoplasia','Underdevelopment of the ulna on both sides.'),('HP:0005650','Cutaneous syndactyly between fingers 2 and 5','A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.'),('HP:0005652','Cortical sclerosis','Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.'),('HP:0005653','Moderate generalized osteoporosis','Moderate osteoporosis.'),('HP:0005655','Multiple digital exostoses','Multiple exostoses originating in the fingers and toes.'),('HP:0005656','Positional foot deformity','A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.'),('HP:0005659','Thoracic kyphoscoliosis',''),('HP:0005661','Salmonella osteomyelitis','Osteomyelitis caused by infection with the bacteria, salmonella.'),('HP:0005665','Massively thickened long bone cortices','Extreme thickening of the cortex of long bones.'),('HP:0005667','Os odontoideum','Separation of the odontoid process from the body of the axis.'),('HP:0005671','Bilateral intracranial calcifications','Deposition of calcium salts on both sides of the brain.'),('HP:0005676','Rudimentary postaxial polydactyly of hands',''),('HP:0005678','Anterior atlanto-occipital dislocation',''),('HP:0005679','Dupuytren contracture','An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.'),('HP:0005680','Tongue-like lumbar vertebral deformities','A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.'),('HP:0005681','Juvenile rheumatoid arthritis',''),('HP:0005682','Talocalcaneal synostosis',''),('HP:0005684','Distal arthrogryposis','An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.'),('HP:0005686','Patchy osteosclerosis','Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0005687','Deformed humeral heads',''),('HP:0005688','Dysplastic distal thumb phalanges with a central hole',''),('HP:0005689','Dermatoglyphic ridges abnormal',''),('HP:0005692','Joint hyperflexibility','Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.'),('HP:0005694','Partial fusion of proximal row of carpal bones',''),('HP:0005696','Postaxial polydactyly type A','Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.'),('HP:0005700','Increased bone density with cystic changes',''),('HP:0005701','Multiple enchondromatosis',''),('HP:0005707','Bilateral triphalangeal thumbs','A bilateral form of triphalangeal thumb.'),('HP:0005709','2-3 toe cutaneous syndactyly',''),('HP:0005715','Flattened knee epiphyses',''),('HP:0005716','Lethal skeletal dysplasia',''),('HP:0005720','Shortening of all metacarpals','Abnormal reduction in length of all metacarpal bones.'),('HP:0005722','Hyperextensible thumb','The ability of the thumb joints to move beyond their normal range of motion.'),('HP:0005723','Shoe-shaped sella turcica',''),('HP:0005725','Nonopposable triphalangeal thumb','A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.'),('HP:0005726','Thumbs hypoplastic with bulbous tips',''),('HP:0005731','Cortical irregularity','An abnormal irregularity of cortical bone.'),('HP:0005733','Spinal stenosis with reduced interpedicular distance','An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).'),('HP:0005736','Short tibia','Underdevelopment (reduced size) of the tibia.'),('HP:0005739','Posterior subluxation of radial head','Partial dislocation of the head of the radius in the posterior direction.'),('HP:0005743','Avascular necrosis of the capital femoral epiphysis','Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.'),('HP:0005744','obsolete Generalized osteoporosis with pathologic fractures',''),('HP:0005745','Congenital foot contractures',''),('HP:0005746','Osteosclerosis of the base of the skull','An increase in bone density affecting the basicranium (base of the skull).'),('HP:0005747','Easily subluxated first metacarpophalangeal joints',''),('HP:0005750','Contractures of the joints of the lower limbs',''),('HP:0005752','Flattened moderately deformed vertebrae',''),('HP:0005756','Neonatal epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.'),('HP:0005758','Basilar impression','Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.'),('HP:0005759','Small flat posterior fossa','An abnormally small and flat configuration of the posterior cranial fossa.'),('HP:0005764','Polyarticular arthritis',''),('HP:0005765','Sacral meningocele',''),('HP:0005766','Disproportionate shortening of the tibia',''),('HP:0005767','1-2 toe complete cutaneous syndactyly',''),('HP:0005768','2-4 toe cutaneous syndactyly','A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.'),('HP:0005769','Fifth finger distal phalanx clinodactyly','Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).'),('HP:0005772','Aplasia/Hypoplasia of the tibia','Absence or underdevelopment of the tibia.'),('HP:0005773','Short forearm','Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.'),('HP:0005775','Multiple skeletal anomalies',''),('HP:0005776','Carpal bone malsegmentation',''),('HP:0005780','Absent fourth finger distal interphalangeal crease','Absence of the distal interphalangeal flexion creases of the fourth finger.'),('HP:0005781','Contractures of the large joints',''),('HP:0005787','Lumbar platyspondyly','A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.'),('HP:0005788','Abnormal cervical myelogram',''),('HP:0005789','Generalized osteosclerosis','An abnormal increase of bone mineral density with generalized involvement of the skeleton.'),('HP:0005790','Short mandibular condyles',''),('HP:0005791','Cortical thickening of long bone diaphyses','Abnormal thickening of the cortex of the diaphyseal region of long bones.'),('HP:0005792','Short humerus','Underdevelopment of the humerus.'),('HP:0005793','Shortening of all distal phalanges of the toes','Abnormally short distal phalanx of toe of all toes.'),('HP:0005794','obsolete Arterial disease of legs',''),('HP:0005798','Posterior radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.'),('HP:0005802','Coalescence of tarsal bones',''),('HP:0005807','Absent distal phalanges','Aplasia (absence) of the distal phalanges.'),('HP:0005815','Supernumerary ribs','The presence of more than 12 rib pairs.'),('HP:0005817','Postaxial polysyndactyly of foot','Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).'),('HP:0005819','Short middle phalanx of finger','Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.'),('HP:0005820','Superior rib anomalies',''),('HP:0005824','Clinodactyly of the 2nd toe','Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).'),('HP:0005825','Mixed sclerosis of humeral metaphyses',''),('HP:0005828','Transient pulmonary infiltrates',''),('HP:0005829','Maldevelopment of radioulnar joint',''),('HP:0005830','Flexion contracture of toe','One or more bent (flexed) toe joints that cannot be straightened actively or passively.'),('HP:0005831','Type B brachydactyly',''),('HP:0005832','Dysharmonic delayed bone age','A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.'),('HP:0005833','obsolete Joint swelling onset late infancy',''),('HP:0005834','obsolete Thumbs hypo/aplastic',''),('HP:0005837','obsolete Joint dislocations in young adult',''),('HP:0005841','Calcific stippling of infantile cartilaginous skeleton',''),('HP:0005844','Rounded middle phalanx of finger','An abnormally round shape of the middle phalanx of the finger.'),('HP:0005848','obsolete Bifid thumb distal phalanx',''),('HP:0005849','Diffuse cerebral calcification','Generalized deposition of calcium salts within the brain.'),('HP:0005850','Congenital talipes calcaneovalgus',''),('HP:0005852','Limited elbow extension and supination',''),('HP:0005853','Congenital foot contraction deformities',''),('HP:0005855','Multiple prenatal fractures','The presence of bone fractures in the prenatal period that are diagnosed at birth or before.'),('HP:0005856','Ulnar radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.'),('HP:0005857','Cervical spina bifida',''),('HP:0005863','Type E brachydactyly','In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.'),('HP:0005864','Pseudoarthrosis','A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\").'),('HP:0005866','Opposable triphalangeal thumb','A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.'),('HP:0005867','Fused fourth and fifth metacarpals',''),('HP:0005868','Metaphyseal enchondromatosis','An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.'),('HP:0005871','Metaphyseal chondrodysplasia','An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.'),('HP:0005872','Brachytelomesophalangy','Disproportionately short middle and distal phalanges compared to the hand/foot.'),('HP:0005873','Polysyndactyly of hallux','Combined syndactyly and polydactyly of the great toe.'),('HP:0005875','Increased dermatoglyphic whorls',''),('HP:0005876','Progressive flexion contractures','Progressively worsening joint contractures.'),('HP:0005877','Multiple small vertebral fractures',''),('HP:0005878','Enlarged sagittal diameter of the cervical canal',''),('HP:0005879','Congenital finger flexion contractures','Multiple bent (flexed) finger joints that cannot be straightened actively or passively.'),('HP:0005880','Metacarpophalangeal synostosis','Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.'),('HP:0005881','Spinal instability',''),('HP:0005882','Dermatoglyphic variants',''),('HP:0005885','Absent ossification of cervical vertebral bodies','A lack of bone mineralization of one or more body of cervical vertebra.'),('HP:0005886','Aphalangy of the hands','Absence of a digit or of one or more phalanges of a finger.'),('HP:0005890','Hyperostosis cranialis interna','Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.'),('HP:0005891','Progressive forearm bowing','Progressive bending or abnormal curvature of the forearm skeleton.'),('HP:0005892','Proximal tibial and fibular fusion',''),('HP:0005894','Double first metacarpals','Duplication of the metacarpal I bones.'),('HP:0005895','Radial deviation of thumb terminal phalanx',''),('HP:0005897','Severe generalized osteoporosis','Severe degree of osteoporosis.'),('HP:0005899','Metaphyseal dysostosis','Abnormal mineralization of the metaphyseal area of bones.'),('HP:0005900','Fifth metacarpal with ulnar notch','Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).'),('HP:0005901','obsolete Chronic recurrent multifocal osteomyelitis',''),('HP:0005905','Abnormal cervical curvature','The presence of an abnormal curvature of the cervical vertebral column.'),('HP:0005906','Delayed pneumatization of the mastoid process','An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.'),('HP:0005910','Rhomboid or triangular shaped 5th finger middle phalanx','Rhomboid or triangular shaped 5th (little) finger middle phalanx.'),('HP:0005912','Biliary atresia','Atresia of the biliary tree.'),('HP:0005913','Abnormality of metacarpal epiphyses',''),('HP:0005914','Aplasia/Hypoplasia involving the metacarpal bones','Aplasia or Hypoplasia affecting the metacarpal bones.'),('HP:0005916','Abnormal metacarpal morphology','Irregularly shaped metacarpal bones of varying degree.'),('HP:0005917','Supernumerary metacarpal bones','The presence of more than the normal number of metacarpal bones.'),('HP:0005918','Abnormal finger phalanx morphology','Abnormalities affecting the phalanx of finger.'),('HP:0005920','Abnormal epiphysis morphology of the phalanges of the hand','Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).'),('HP:0005921','obsolete Abnormal ossification of hand bones',''),('HP:0005922','Abnormal hand morphology','Any structural anomaly of the hand.'),('HP:0005923','Abnormalities of the metaphyses of the hand',''),('HP:0005924','Abnormality of the epiphyses of the hand','Any abnormality of the epiphyses of the phalanges or metacarpal bones.'),('HP:0005925','Abnormalities of the diaphyses of the hand',''),('HP:0005926','Abnormality of hand cortical bone','An anomaly of the outer shell (cortex) of a hand bone.'),('HP:0005927','Aplasia/hypoplasia involving bones of the hand','Absence (due to failure to form) or underdevelopment of the bones of the hand.'),('HP:0005928','Synostosis involving the fibula',''),('HP:0005929','Synostosis involving the tibia',''),('HP:0005930','Abnormality of epiphysis morphology','An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.'),('HP:0005932','Abnormal renal corticomedullary differentiation','An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.'),('HP:0005934','Imperfect vocal cord adduction',''),('HP:0005938','Abnormal respiratory motile cilium morphology','Abnormal arrangement of the structures of the motile cilium.'),('HP:0005939','Multiple bilateral pneumothoraces',''),('HP:0005941','Intermittent hyperpnea at rest',''),('HP:0005942','Desquamative interstitial pneumonitis','Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.'),('HP:0005943','Respiratory arrest',''),('HP:0005944','Bilateral lung agenesis','Bilateral lack of development of the lungs.'),('HP:0005945','Laryngeal obstruction','Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.'),('HP:0005946','Ventilator dependence with inability to wean',''),('HP:0005947','Decreased sensitivity to hypoxemia','Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.'),('HP:0005948','Multiple pulmonary cysts','The presence of multiple lung cysts.'),('HP:0005949','Apneic episodes in infancy','Recurrent episodes of apnea occurring during infancy.'),('HP:0005950','Laryngeal web','A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.'),('HP:0005951','Progressive inspiratory stridor',''),('HP:0005952','Decreased pulmonary function',''),('HP:0005954','Pulmonary capillary hemangiomatosis',''),('HP:0005956','Anteroposteriorly shortened larynx','Abnormal shortening of the larynx in the anteroposterior (front to back) axis.'),('HP:0005957','Breathing dysregulation',''),('HP:0005959','Impaired gluconeogenesis','An impairment of gluconeogenesis.'),('HP:0005961','Hypoargininemia','A decreased concentration of arginine in the blood.'),('HP:0005964','Intermittent hypothermia','Episodes of reduced body termperature.'),('HP:0005967','Mixed respiratory and metabolic acidosis',''),('HP:0005968','Temperature instability','Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.'),('HP:0005972','Respiratory acidosis','Acidosis because of respiratory retention of carbon dioxide.'),('HP:0005973','Fructose intolerance',''),('HP:0005974','Episodic ketoacidosis','Intermittent episodes of ketoacidosis.'),('HP:0005976','Hyperkalemic metabolic acidosis',''),('HP:0005977','Hypochloremic metabolic alkalosis',''),('HP:0005978','Type II diabetes mellitus','A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.'),('HP:0005979','Metabolic ketoacidosis',''),('HP:0005982','Reduced phenylalanine hydroxylase level','A reduction in phenylalanine 4-monooxygenase level.'),('HP:0005984','Elevated maternal serum alpha-fetoprotein','An elevation of alpha-feto protein in the maternal serum.'),('HP:0005986','Limitation of neck motion',''),('HP:0005987','Multinodular goiter','Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.'),('HP:0005988','Congenital muscular torticollis','A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.'),('HP:0005989','Redundant neck skin','Excess skin around the neck, often lying in horizontal folds.'),('HP:0005990','Thyroid hypoplasia','Developmental hypoplasia of the thyroid gland.'),('HP:0005991','Limited neck flexion',''),('HP:0005994','Nodular goiter','Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.'),('HP:0005995','Decreased adipose tissue around neck','Reduced amount of adipose tissue in the region of the neck.'),('HP:0005997','Restricted neck movement due to contractures',''),('HP:0005999','Ureteral atresia','A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.'),('HP:0006000','Ureteral obstruction','Obstruction of the flow of urine through the ureter.'),('HP:0006006','Hypotrophy of the small hand muscles',''),('HP:0006008','Unilateral brachydactyly',''),('HP:0006009','Broad phalanx','Increased side-to-side width of one or more phalanges of the fingers or toes.'),('HP:0006011','Cuboidal metacarpal','Severely shortened metacarpal with a cuboidal appearance.'),('HP:0006012','Widened metacarpal shaft',''),('HP:0006014','Abnormally shaped carpal bones',''),('HP:0006016','Delayed phalangeal epiphyseal ossification','Delay in the process of formation and maturation of the epiphysis of one or more phalanx.'),('HP:0006019','Reduced proximal interphalangeal joint space',''),('HP:0006026','Rounded epiphyses',''),('HP:0006028','Metaphyseal cupping of metacarpals','Metaphyseal cupping affecting the metacarpal bones.'),('HP:0006035','Cone-shaped epiphyses of phalanges 2 to 5',''),('HP:0006040','Long second metacarpal',''),('HP:0006042','Y-shaped metacarpals','Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.'),('HP:0006045','Short pointed phalanges',''),('HP:0006048','Distal widening of metacarpals','Abnormal increase in width of the distal region of the metacarpal bones.'),('HP:0006051','Metacarpal periosteal thickening',''),('HP:0006055','Ulnar deviated club hands',''),('HP:0006059','Cone-shaped metacarpal epiphyses','A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a `ball-in-a-socket` appearance. This epiphyses are located at the distal ends of the metacarpal bones.'),('HP:0006060','Tombstone-shaped proximal phalanges',''),('HP:0006064','Limited interphalangeal movement',''),('HP:0006067','Multiple carpal ossification centers','A delay in the process of formation and maturation of the epiphysis of one or more long bones.'),('HP:0006069','Severe carpal ossification delay',''),('HP:0006070','Metacarpophalangeal joint contracture','A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0006077','Absent proximal finger flexion creases','Absence of the proximal interphalangeal flexion creases of the fingers.'),('HP:0006086','Thin metacarpal cortices',''),('HP:0006088','1-5 finger complete cutaneous syndactyly',''),('HP:0006089','Palmar hyperhidrosis',''),('HP:0006092','Malaligned carpal bone','Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).'),('HP:0006094','Finger joint hypermobility',''),('HP:0006095','Wide tufts of distal phalanges',''),('HP:0006097','3-4 finger syndactyly','Syndactyly with fusion of fingers three and four.'),('HP:0006099','Metacarpophalangeal joint hyperextensibility','Increased mobility of one ore more metacarpophalangeal joint.'),('HP:0006101','Finger syndactyly','Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0006106','Absent trapezoid bone',''),('HP:0006107','Fingerpad telangiectases','Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.'),('HP:0006108','Tapered metacarpals','Metacarpal that becomes thinner toward the distal end.'),('HP:0006109','Absent phalangeal crease','Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).'),('HP:0006110','Shortening of all middle phalanges of the fingers','Short, hypoplastic middle phalanx of finger, affecting all fingers.'),('HP:0006112','Expanded phalanges with widened medullary cavities',''),('HP:0006114','Multiple palmar creases','The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).'),('HP:0006118','Shortening of all distal phalanges of the fingers','Hypoplasia of all of the distal phalanx of finger.'),('HP:0006119','Proximal tapering of metacarpals','Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.'),('HP:0006121','Acral ulceration','A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.'),('HP:0006127','Long proximal phalanx of finger','Increased length of the proximal phalanx of finger.'),('HP:0006129','Drumstick terminal phalanges','Rounding and broadening of the tufts of the distal phalanges.'),('HP:0006134','Enlarged metacarpal epiphyses','Abnormally large size of the metaphyseal epiphyses.'),('HP:0006135','Decreased finger mobility',''),('HP:0006136','Bilateral postaxial polydactyly',''),('HP:0006140','Premature fusion of phalangeal epiphyses','Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.'),('HP:0006143','Abnormal finger flexion creases',''),('HP:0006144','Shortening of all proximal phalanges of the fingers','Congenital hypoplasia of proximal phalanx of finger or all fingers.'),('HP:0006145','Central Y-shaped metacarpal','A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.'),('HP:0006146','Broad metacarpal epiphyses','Increased side-to-side width of the metacarpal epiphyses.'),('HP:0006147','Progressive fusion 2nd-5th pip joints',''),('HP:0006149','Increased laxity of fingers',''),('HP:0006150','Swan neck-like deformities of the fingers','A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson`s disease, or stroke.'),('HP:0006152','Proximal symphalangism of hands','The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.'),('HP:0006153','Disharmonious carpal bone',''),('HP:0006155','Long phalanx of finger','Increased length of multiple or a single phalanx of finger.'),('HP:0006156','Ulnar deviation of thumb','Bending or curvature of a thumb towards the ulnar side (towards the ring finger).'),('HP:0006157','Prominent palmar flexion creases',''),('HP:0006158','obsolete Finger joint hyperextensibility',''),('HP:0006159','Mesoaxial hand polydactyly','The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.'),('HP:0006160','Irregular metacarpals','Irregular morphology of one or more metacarpal bones.'),('HP:0006161','Short metacarpals with rounded proximal ends',''),('HP:0006162','Soft tissue swelling of interphalangeal joints',''),('HP:0006163','Enlarged metacarpophalangeal joints',''),('HP:0006165','Proportionate shortening of all digits',''),('HP:0006166','Tubular metacarpal bones',''),('HP:0006167','Prominent proximal interphalangeal joints',''),('HP:0006169','Decreased mobility 3rd-5th fingers',''),('HP:0006170','Chess-pawn distal phalanges','A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.'),('HP:0006172','Flattened, squared-off epiphyses of tubular bones',''),('HP:0006174','Metacarpal diaphyseal endosteal sclerosis','Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.'),('HP:0006175','Proximal phalangeal periosteal thickening',''),('HP:0006176','Two carpal ossification centers present at birth',''),('HP:0006179','Pseudoepiphyses of second metacarpal',''),('HP:0006180','Crowded carpal bones',''),('HP:0006184','Decreased palmar creases','Poorly defined or shallow palmar creases.'),('HP:0006185','Enlarged proximal interphalangeal joints',''),('HP:0006187','Fusion of midphalangeal joints',''),('HP:0006189','Prominent interdigital folds',''),('HP:0006190','Radially deviated wrists',''),('HP:0006191','Deep palmar crease','Excessively deep creases of the palm.'),('HP:0006192','Tapered phalanx of finger','Phalanges of the fingers becoming thinner toward the distal end.'),('HP:0006193','Thimble-shaped middle phalanges of hand','The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.'),('HP:0006200','Widened distal phalanges',''),('HP:0006201','Hypermobility of distal interphalangeal joints',''),('HP:0006202','Osteolysis of scaphoids',''),('HP:0006203','Decreased movement range in interphalangeal joints',''),('HP:0006205','Irregular phalanges','Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.'),('HP:0006206','Hypersegmentation of proximal phalanx of second finger','Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.'),('HP:0006207','Partial fusion of carpals',''),('HP:0006208','Metaphyseal cupping of proximal phalanges','Metaphyseal cupping affecting the proximal phalanges.'),('HP:0006209','Partial-complete absence of 5th phalanges',''),('HP:0006210','Postaxial oligodactyly',''),('HP:0006213','Thin proximal phalanges with broad epiphyses of the hand',''),('HP:0006216','Single interphalangeal crease of fifth finger','Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.'),('HP:0006217','Limited mobility of proximal interphalangeal joint',''),('HP:0006224','Tapering pointed ends of distal finger phalanges','A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).'),('HP:0006226','Osteoarthritis of the first carpometacarpal joint',''),('HP:0006228','Valgus hand deformity',''),('HP:0006230','Unilateral oligodactyly',''),('HP:0006232','Expanded metacarpals with widened medullary cavities',''),('HP:0006233','Osteoarthritis of the distal interphalangeal joint',''),('HP:0006234','Osteolysis involving tarsal bones','An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.'),('HP:0006236','Slender metacarpals','Decreased width of the metacarpal bones (that is, reduced diameter).'),('HP:0006237','Prominent interphalangeal joints',''),('HP:0006239','Shortening of all middle phalanges of the toes','Abnormal shortening of all middle phalanges of toes.'),('HP:0006243','Phalangeal dislocation',''),('HP:0006247','Enlarged interphalangeal joints',''),('HP:0006248','Limited wrist movement','An abnormal limitation of the mobility of the wrist.'),('HP:0006251','Limited wrist extension',''),('HP:0006252','Interphalangeal joint erosions',''),('HP:0006253','Swelling of proximal interphalangeal joints',''),('HP:0006254','Elevated alpha-fetoprotein','An increased concentration of alpha-fetoprotein.'),('HP:0006256','Abnormality of hand joint mobility',''),('HP:0006257','Abnormality of carpal bone ossification',''),('HP:0006261','Abnormal phalangeal joint morphology of the hand',''),('HP:0006262','Aplasia/Hypoplasia of the 5th finger','A small/hypoplastic or absent/aplastic 5th finger.'),('HP:0006263','Abnormality of the epiphyses of the 2nd finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.'),('HP:0006264','Aplasia/Hypoplasia of the 2nd finger','A small/hypoplastic or absent/aplastic 2nd finger.'),('HP:0006265','Aplasia/Hypoplasia of fingers','Small/hypoplastic or absent/aplastic fingers.'),('HP:0006266','Small placenta','Reduced size of the placenta.'),('HP:0006267','Large placenta','Increased size of the placenta.'),('HP:0006268','Fluctuating splenomegaly','Intermittently increased size of the spleen.'),('HP:0006270','Hypoplastic spleen','Underdevelopment of the spleen.'),('HP:0006273','Pancreatic lymphangiectasis','The presence of lymphangiectasis in the pancreas.'),('HP:0006274','Reduced pancreatic beta cells','Reduced number of beta cells in the pancreatic islets of Langerhans.'),('HP:0006276','Hyperechogenic pancreas',''),('HP:0006277','Pancreatic hyperplasia','Hyperplasia of the pancreas.'),('HP:0006278','Ectopic pancreatic tissue','The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.'),('HP:0006279','Beta-cell dysfunction',''),('HP:0006280','Chronic pancreatitis','A chronic form of pancreatitis.'),('HP:0006282','Generalized hypoplasia of dental enamel','A generalized form of developmental hypoplasia of the dental enamel.'),('HP:0006283','Multiple unerupted teeth','The presence of multiple embedded tooth germs which have failed to erupt.'),('HP:0006285','Hypomineralization of enamel','A decreased amount of enamel mineralization.'),('HP:0006286','Yellow-brown discoloration of the teeth',''),('HP:0006288','Advanced eruption of teeth','Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.'),('HP:0006289','Agenesis of central incisor','Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.'),('HP:0006290','Discolored lateral incisors','The presence of discolored lateral incisors.'),('HP:0006291','Marked delay in eruption of permanent teeth',''),('HP:0006292','Abnormality of dental eruption','An abnormality of tooth eruption.'),('HP:0006293','Agenesis of maxillary central incisor','Agenesis of upper secondary incisor or of upper central primary incisor.'),('HP:0006297','Hypoplasia of dental enamel','Developmental hypoplasia of the dental enamel.'),('HP:0006298','Prolonged bleeding after dental extraction','Prolonged bleeding post dental extraction sufficient to require medical intervention.'),('HP:0006302','Dagger-shaped pulp calcifications','Dagger-shaped calcifications in the dental pulp.'),('HP:0006304','Widely-spaced incisors',''),('HP:0006308','Atrophy of alveolar ridges',''),('HP:0006311','Generalized microdontia','A generalized form of microdontia.'),('HP:0006313','Widely spaced primary teeth','Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.'),('HP:0006315','Single median maxillary incisor','The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.'),('HP:0006316','Irregularly spaced teeth','Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.'),('HP:0006321','Multiple non-erupting secondary teeth',''),('HP:0006323','Premature loss of primary teeth','Loss of the primary (also known as deciduous) teeth before the usual age.'),('HP:0006326','Buried teeth encased in mucopolysaccharide',''),('HP:0006329','Alveolar process hypoplasia','Underdevelopment of the alveolar process (also known as alveolar bone).'),('HP:0006330','Rotated maxillary central incisors',''),('HP:0006332','Supernumerary maxillary incisor','The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.'),('HP:0006333','Crowded maxillary incisors','A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.'),('HP:0006334','Hypoplasia of the primary teeth','Developmental hypoplasia of the primary teeth.'),('HP:0006335','Persistence of primary teeth','Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.'),('HP:0006336','Short dental roots','Short dental root.'),('HP:0006337','Premature eruption of permanent teeth','Premature tooth eruption of the permanent dentition.'),('HP:0006338','Malformation of mandibular premolar','An abnormality of the morphology of secondary premolar tooth.'),('HP:0006339','Conical mandibular incisor','An abnormal conical morphology of the primary or permanent mandibular incisors.'),('HP:0006342','Peg-shaped maxillary lateral incisors','Peg-shaped upper lateral secondary incisor tooth.'),('HP:0006344','Abnormality of primary molar morphology','An abnormality of morphology of primary molar.'),('HP:0006346','Screwdriver-shaped incisors','An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.'),('HP:0006347','Microdontia of primary teeth','Decreased size of the primary teeth.'),('HP:0006349','Agenesis of permanent teeth','A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.'),('HP:0006350','Obliteration of the pulp chamber','Obliteration of the pulp chambers owing to mineralization of the dental pulp.'),('HP:0006352','Failure of eruption of permanent teeth','Lack of tooth eruption of the secondary dentition.'),('HP:0006353','Hypoplasia of the tooth germ','Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.'),('HP:0006355','Agenesis of mandibular central incisor','Agenesis of lower secondary incisor or lower primary incisor.'),('HP:0006357','Premature loss of permanent teeth','Premature loss of the permanent teeth.'),('HP:0006358','Shovel-shaped maxillary central incisors','Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors.'),('HP:0006361','Irregular femoral epiphysis',''),('HP:0006362','Varus deformity of humeral neck',''),('HP:0006366','Adductor longus contractures',''),('HP:0006367','Crumpled long bones','An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.'),('HP:0006368','Forearm reduction defects',''),('HP:0006369','Irregular patellae','An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.'),('HP:0006370','Distal ulnar epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.'),('HP:0006371','Broad long bone diaphyses','Increased width of the diaphysis of long bones.'),('HP:0006375','Dumbbell-shaped femur','The femur is shortened and displays flaring (widening) of the metaphyses.'),('HP:0006376','Limited elbow flexion',''),('HP:0006378','Osteolysis of patellae',''),('HP:0006379','Proximal tibial hypoplasia',''),('HP:0006380','Knee flexion contracture','A bent (flexed) knee joint that cannot be straightened actively or passively.'),('HP:0006381','Rudimentary fibula','Absent or nearly absent fibula. (Does not include aplastic)'),('HP:0006383','Progressive bowing of long bones','Progressive bending or abnormal curvature of a long bone.'),('HP:0006384','Club-shaped distal femur','An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.'),('HP:0006385','Short lower limbs','Shortening of the legs related to developmental hypoplasia of the bones of the leg.'),('HP:0006386','Hypoplastic distal radial epiphyses','Underdevelopment of the distal epiphysis of the radius.'),('HP:0006387','Wide distal femoral metaphysis','Increased width of the distal part of the shaft (metaphysis) of the femur.'),('HP:0006389','Limited knee flexion',''),('HP:0006390','Anterior tibial bowing','An abnormal anterior bending or curvature of the tibia.'),('HP:0006391','Overtubulated long bones','Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.'),('HP:0006392','Increased density of long bones','An abnormal increase in the bone density of the long bones.'),('HP:0006394','Limited pronation/supination of forearm','A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).'),('HP:0006397','Lateral displacement of patellae',''),('HP:0006398','Flat distal femoral epiphysis','An abnormal flattening of the distal epiphysis of femur.'),('HP:0006400','Absent knee epiphyses',''),('HP:0006402','Distal shortening of limbs',''),('HP:0006406','Club-shaped proximal femur','An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.'),('HP:0006407','Irregular distal femoral epiphysis','Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.'),('HP:0006408','Distal tapering femur',''),('HP:0006409','Progressive leg bowing','Progressive bending or abnormal curvature of the leg.'),('HP:0006413','Broad tibial metaphyses',''),('HP:0006414','Distal tibial bowing','A bending or abnormal curvature of the distal portion of the tibia.'),('HP:0006415','Cortically dense long tubular bones','Increased density of the compact bone of long bone.'),('HP:0006417','Broad femoral metaphyses',''),('HP:0006420','Asymmetric radial dysplasia','The presence of asymmetric developmental dysplasia of the radius.'),('HP:0006423','Peg-like central prominence of distal tibial metaphyses',''),('HP:0006424','Elongated radius','Increased length of the radius.'),('HP:0006426','Rudimentary to absent tibiae',''),('HP:0006429','Broad femoral neck','An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0006431','Proximal femoral metaphyseal abnormality','An anomaly of the metaphysis of the proximal femur (close to the hip).'),('HP:0006432','Trapezoidal distal femoral condyles',''),('HP:0006433','Radial dysplasia','Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.'),('HP:0006434','Hypoplasia of proximal radius','Proximal radial shortening owing to a congenital defect of development.'),('HP:0006436','obsolete Shortening of the tibia',''),('HP:0006437','Disproportionate prominence of the femoral medial condyle',''),('HP:0006438','Enlargement of the distal femoral epiphysis','An abnormal enlargement of the distal epiphysis of the femur.'),('HP:0006439','Radioulnar dislocation',''),('HP:0006440','Increased density of long bone diaphyses',''),('HP:0006441','Lateral humeral condyle aplasia',''),('HP:0006442','Hypoplasia of proximal fibula','Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.'),('HP:0006443','Patellar aplasia','Absence of the patella.'),('HP:0006446','Dysplastic patella',''),('HP:0006449','Distal radial epiphyseal osteolysis',''),('HP:0006450','Multicentric ossification of proximal femoral epiphyses',''),('HP:0006453','Lateral displacement of the femoral head','A developmental anomaly with lateral displacement of the femoral head.'),('HP:0006454','Delayed patellar ossification','Formation of bone in the patella later than normal.'),('HP:0006456','Irregular proximal tibial epiphyses','Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.'),('HP:0006459','Dorsal subluxation of ulna','Partial dislocation of the ulna in the dorsal direction.'),('HP:0006460','Increased laxity of ankles',''),('HP:0006461','Proximal femoral epiphysiolysis','Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.'),('HP:0006462','Generalized bone demineralization','A generalized decrease in bone mineral density.'),('HP:0006463','Rickets of the lower limbs',''),('HP:0006465','Periosteal thickening of long tubular bones','Thickening of the periosteum of long bone.'),('HP:0006466','Ankle flexion contracture','A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.'),('HP:0006467','Limited shoulder movement','A limitation of the range of movement of the shoulder joint.'),('HP:0006470','Thin long bone diaphyses','Decreased width of the diaphysis of long bones.'),('HP:0006471','Fixed elbow flexion',''),('HP:0006473','Anterior bowing of long bones','An abnormal anterior curvature of a long bone.'),('HP:0006476','Abnormality of the pancreatic islet cells','An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.'),('HP:0006477','Abnormality of the alveolar ridges','Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.'),('HP:0006479','Abnormality of the dental pulp','An abnormality of the dental pulp.'),('HP:0006480','Premature loss of teeth','Premature loss of teeth not related to trauma or neglect.'),('HP:0006481','Abnormality of primary teeth','Any abnormality of the primary tooth.'),('HP:0006482','Abnormality of dental morphology','An abnormality of the morphology of the tooth.'),('HP:0006483','Abnormal number of teeth','The presence of an altered number of of teeth.'),('HP:0006485','Agenesis of incisor','Agenesis of incisor.'),('HP:0006486','Abnormality of the dental root','An abnormality of the dental root.'),('HP:0006487','Bowing of the long bones','A bending or abnormal curvature of a long bone.'),('HP:0006488','Bowing of the arm','A bending or abnormal curvature affecting a long bone of the arm.'),('HP:0006489','Abnormality of the femoral metaphysis','An anomaly of the femoral metaphysis.'),('HP:0006490','Abnormality of lower-limb metaphyses',''),('HP:0006491','Abnormality of the tibial metaphysis',''),('HP:0006492','Aplasia/Hypoplasia of the fibula','Absence or underdevelopment of the fibula.'),('HP:0006493','Aplasia/hypoplasia involving bones of the lower limbs','Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.'),('HP:0006494','Aplasia/Hypoplasia involving bones of the feet',''),('HP:0006495','Aplasia/Hypoplasia of the ulna','Absence or underdevelopment of the ulna.'),('HP:0006496','Aplasia/hypoplasia involving bones of the upper limbs','Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.'),('HP:0006498','Aplasia/Hypoplasia of the patella','Absence or underdevelopment of the patella.'),('HP:0006499','Abnormality of femoral epiphysis','An anomaly of a growth plate of a femur.'),('HP:0006500','Abnormality of lower limb epiphysis morphology','An anomaly of one or more epiphyses of one or both legs.'),('HP:0006501','Aplasia/Hypoplasia of the radius','A small/hypoplastic or absent/aplastic radius.'),('HP:0006502','Aplasia/Hypoplasia involving the carpal bones','Absence or underdevelopment of the carpal bones.'),('HP:0006503','Aplasia/hypoplasia involving forearm bones','Absence (due to failure to form) or underdevelopment of one or more forearm bones.'),('HP:0006504','obsolete Anomaly of the limb diaphyses morphology',''),('HP:0006505','Abnormality of limb epiphysis morphology','An anomaly of one or more epiphyses of a limb.'),('HP:0006507','Aplasia/hypoplasia of the humerus','Absence (due to failure to form) or underdevelopment of the humerus.'),('HP:0006508','Abnormality of tibial epiphyses',''),('HP:0006509','Diverticulosis of trachea',''),('HP:0006510','Chronic pulmonary obstruction','An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.'),('HP:0006511','Laryngeal stridor','An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.'),('HP:0006514','Intraalveolar nodular calcifications',''),('HP:0006515','Interstitial pneumonitis',''),('HP:0006516','Hypersensitivity pneumonitis',''),('HP:0006517','Alveolar proteinosis','Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates.'),('HP:0006518','Pulmonary venous occlusion','Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.'),('HP:0006519','Alveolar cell carcinoma','Adenocarcinoma of the Bronchus.'),('HP:0006520','Progressive pulmonary function impairment',''),('HP:0006521','Pulmonary lymphangiectasia','Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.'),('HP:0006522','Repeated pneumothoraces',''),('HP:0006524','Tracheobronchial leiomyomatosis',''),('HP:0006525','obsolete Lung segmentation defects',''),('HP:0006527','Lymphoid interstitial pneumonia','A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells.'),('HP:0006528','Chronic lung disease','According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.'),('HP:0006529','Abnormal pulmonary lymphatics','An abnormality of the pulmonary lymphatic chain.'),('HP:0006530','Interstitial pulmonary abnormality','Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.'),('HP:0006531','Pleural lymphangiectasia',''),('HP:0006532','Recurrent pneumonia','An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.'),('HP:0006533','Bronchodysplasia',''),('HP:0006535','Recurrent intrapulmonary hemorrhage','A recurrent hemorrhage occurring within the lung.'),('HP:0006536','Pulmonary obstruction','Obstruction of conducting airways of the lung.'),('HP:0006538','Recurrent bronchopulmonary infections','An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.'),('HP:0006539','Bronchial cartilage hypoplasia',''),('HP:0006541','obsolete Chronic obstructive airway disease from birth',''),('HP:0006543','Cardiorespiratory arrest',''),('HP:0006544','Extrapulmonary sequestrum','A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.'),('HP:0006548','Pulmonary arteriovenous malformation','Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.'),('HP:0006549','Unilateral primary pulmonary dysgenesis',''),('HP:0006552','Fibrocystic lung disease',''),('HP:0006554','Acute hepatic failure','Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.'),('HP:0006555','Diffuse hepatic steatosis','A diffuse form of hepatic steatosis.'),('HP:0006557','Polycystic liver disease',''),('HP:0006558','Decreased mitochondrial complex III activity in liver tissue','Decreased activity of complex III of the mitochondrion in the liver.'),('HP:0006559','Hepatic calcification','The presence of abnormal calcium deposition in the liver.'),('HP:0006560','Biliary hyperplasia','Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.'),('HP:0006561','Lipid accumulation in hepatocytes',''),('HP:0006562','Viral hepatitis','Inflammation of the liver due to infection with a virus.'),('HP:0006563','Malformation of the hepatic ductal plate',''),('HP:0006564','Fluctuating hepatomegaly','Intermittently increased size of the liver.'),('HP:0006565','Increased hepatocellular lipid droplets','An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.'),('HP:0006566','Neonatal cholestatic liver disease',''),('HP:0006568','Increased hepatic glycogen content','An increase in the amount of glycogen stored in hepatocytes compared to normal.'),('HP:0006571','Reduced number of intrahepatic bile ducts','The presence of reduced numbers of intrahepatic bile duct than normal.'),('HP:0006572','Subacute progressive viral hepatitis',''),('HP:0006573','Acute hepatic steatosis','An acute form of hepatic steatosis.'),('HP:0006574','Hepatic arteriovenous malformation',''),('HP:0006575','Intrahepatic cholestasis with episodic jaundice',''),('HP:0006576','Hepatic vascular malformations',''),('HP:0006577','Macronodular cirrhosis','A type of cirrhosis characterized by the presence of large regenerative nodules.'),('HP:0006579','Prolonged neonatal jaundice','Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.'),('HP:0006580','Portal fibrosis','Fibroblast proliferation and fiber expansion from the portal areas to the lobule.'),('HP:0006581','Depletion of mitochondrial DNA in liver','An abnormal reduction in the number of mitochondria in hepatocytes.'),('HP:0006582','Reye syndrome-like episodes','Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.'),('HP:0006583','Fatal liver failure in infancy',''),('HP:0006584','Small abnormally formed scapulae',''),('HP:0006585','Congenital pseudoarthrosis of the clavicle','The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.'),('HP:0006587','Straight clavicles','An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .'),('HP:0006589','Flaring of lower rib cage',''),('HP:0006590','Premature sternal synostosis','Prematurely closed sternal sutures.'),('HP:0006591','Absent glenoid fossa','Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.'),('HP:0006593','Anomalous rib insertion to vertebrae',''),('HP:0006595','Scapulohumeral synostosis','Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.'),('HP:0006596','Restricted chest movement',''),('HP:0006597','Diaphragmatic paralysis','The presence of a paralyzed diaphragm.'),('HP:0006598','Irregular ossification at anterior rib ends',''),('HP:0006599','Medial widening of clavicles',''),('HP:0006600','Progressive calcification of costochondral cartilage',''),('HP:0006603','Flared, irregular rib ends',''),('HP:0006606','Irregular chondrocostal junctions','Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.'),('HP:0006607','Precocious costochondral ossification','Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.'),('HP:0006608','Midclavicular hypoplasia','Underdevelopment of the middle portion of the clavicle.'),('HP:0006610','Wide intermamillary distance','A larger than usual distance between the left and right nipple.'),('HP:0006611','Decreased number of sternal ossification centers','A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.'),('HP:0006615','Absent in utero rib ossification','Lack of formation and mineralization of the ribs in utero.'),('HP:0006619','Anterior rib punctate calcifications','Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.'),('HP:0006623','Costochondral joint sclerosis','Abnormal increase in density of the tissue at the costochondral junctions.'),('HP:0006625','Multifocal breast carcinoma','Breast carcinoma that is bilateral or otherwise multifocal.'),('HP:0006628','Absent sternal ossification','Lack of formation of mineralized bony tissue of the sternum.'),('HP:0006631','Hypoplastic distal segments of scapulae',''),('HP:0006633','Glenoid fossa hypoplasia','Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.'),('HP:0006634','Osteosclerosis of ribs','Osteosclerosis of ribs (increased density related to increased bone mass).'),('HP:0006637','Sternal punctate calcifications',''),('HP:0006638','Midclavicular aplasia','Developmental defect resulting in congenital absence of the middle portion of the clavicle.'),('HP:0006640','Multiple rib fractures','More than one fracture of the ribs.'),('HP:0006641','Prominent floating ribs',''),('HP:0006642','Large sternal ossification centers',''),('HP:0006643','Fused sternal ossification centers',''),('HP:0006644','Thoracic dysplasia',''),('HP:0006645','Thin clavicles','Abnormally reduced diameter (cross section) of the clavicles.'),('HP:0006646','Costal cartilage calcification','Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.'),('HP:0006647','Congenital microthorax',''),('HP:0006649','Costochondral pain','Chest wall pain in the area of the costochondral junctions.'),('HP:0006650','Thickening of the lateral border of the scapula',''),('HP:0006655','Rib segmentation abnormalities',''),('HP:0006657','Hypoplasia of first ribs',''),('HP:0006659','Internally rotated shoulders',''),('HP:0006660','Aplastic clavicle','Absence of the clavicles as a developmental defect.'),('HP:0006665','Coat hanger sign of ribs','An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).'),('HP:0006668','Twelfth rib hypoplasia',''),('HP:0006670','Impaired myocardial contractility',''),('HP:0006671','Paroxysmal atrial tachycardia',''),('HP:0006673','Reduced systolic function',''),('HP:0006677','Prolonged QRS complex','Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.'),('HP:0006679','Granulomatous coronary arteritis','Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.'),('HP:0006681','Absent atrioventricular node',''),('HP:0006682','Ventricular extrasystoles','Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.'),('HP:0006683','Abnormal ventricular filling','An abnormality of filling of a ventricle with blood during diastole.'),('HP:0006684','Ventricular preexcitation with multiple accessory pathways','A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.'),('HP:0006685','Endocardial fibrosis','The presence of excessive connective tissue in the endocardium.'),('HP:0006687','Aortic tortuosity','Abnormal tortuous (i.e., twisted) form of the aorta.'),('HP:0006688','Paroxysmal tachycardia',''),('HP:0006689','Bacterial endocarditis','A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.'),('HP:0006690','Myocardial calcification','Calcium deposition in the myocardium.'),('HP:0006691','Pulmonic valve myxoma',''),('HP:0006692','Short chordae tendineae of the tricuspid valve','Abnormally short chordae tendineae of the tricuspid valve.'),('HP:0006693','Myocardial steatosis','Steatosis in the myocardium.'),('HP:0006694','Early progressive calcific cardiac valvular disease',''),('HP:0006695','Atrioventricular canal defect','A defect of the atrioventricular septum of the heart.'),('HP:0006696','Polymorphic and polytopic ventricular extrasystoles',''),('HP:0006698','Dilatation of the ventricular cavity','A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.'),('HP:0006699','Premature atrial contractions','A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.'),('HP:0006702','Coronary artery dissection','Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.'),('HP:0006703','Aplasia/Hypoplasia of the lungs',''),('HP:0006704','Abnormal coronary artery morphology','Any structural abnormality of the coronary arteries.'),('HP:0006705','Abnormal atrioventricular valve morphology','An abnormality of an atrioventricular valve.'),('HP:0006706','Cystic liver disease',''),('HP:0006707','Abnormality of the hepatic vasculature','An abnormality of the hepatic vasculature.'),('HP:0006709','Aplasia/Hypoplasia of the nipples',''),('HP:0006710','Aplasia/Hypoplasia of the clavicles','Absence or underdevelopment of the clavicles (collar bones).'),('HP:0006711','Aplasia/Hypoplasia involving bones of the thorax',''),('HP:0006712','Aplasia/Hypoplasia of the ribs',''),('HP:0006713','Aplasia/Hypoplasia of the scapulae',''),('HP:0006714','Aplasia/Hypoplasia of the sternum',''),('HP:0006715','Glomus tympanicum paraganglioma',''),('HP:0006716','Hereditary nonpolyposis colorectal carcinoma',''),('HP:0006717','Peripheral neuroepithelioma',''),('HP:0006719','Benign gastrointestinal tract tumors',''),('HP:0006721','Acute lymphoblastic leukemia','A form of acute leukemia characterized by excess lympoblasts.'),('HP:0006722','Small intestine carcinoid',''),('HP:0006723','Intestinal carcinoid',''),('HP:0006725','Pancreatic adenocarcinoma','The presence of an adenocarcinoma of the pancreas.'),('HP:0006727','T-cell acute lymphoblastic leukemias','Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.'),('HP:0006729','Retroperitoneal chemodectomas',''),('HP:0006731','Follicular thyroid carcinoma','The presence of an follicular adenocarcinoma of the thyroid gland.'),('HP:0006732','Papillary renal cell carcinoma type 2','A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.'),('HP:0006733','Acute megakaryocytic leukemia','A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.'),('HP:0006735','Renal cortical adenoma','The presence of an adenoma in the cortex of the kidney.'),('HP:0006737','Extraadrenal pheochromocytoma','Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.'),('HP:0006739','Squamous cell carcinoma of the skin','Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.'),('HP:0006740','Transitional cell carcinoma of the bladder','The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.'),('HP:0006742','Congenital neuroblastoma',''),('HP:0006743','Embryonal rhabdomyosarcoma',''),('HP:0006744','Adrenocortical carcinoma','A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.'),('HP:0006747','Ganglioneuroblastoma',''),('HP:0006748','Adrenal pheochromocytoma','Pheochromocytoma originating from the adrenal medulla.'),('HP:0006749','Malignant gastrointestinal tract tumors',''),('HP:0006751','Paraspinal neurofibromas',''),('HP:0006753','Neoplasm of the stomach','A tumor (abnormal growth of tissue) of the stomach.'),('HP:0006755','Cutaneous leiomyosarcoma','The presence of leiomyosarcoma of the skin.'),('HP:0006756','Diffuse leiomyomatosis',''),('HP:0006758','Malignant genitourinary tract tumor','The presence of a malignant neoplasm of the genital system.'),('HP:0006762','Renal pelvic carcinoma','The presence of a carcinoma in the renal pelvis.'),('HP:0006763','Anal canal squamous carcinoma',''),('HP:0006765','Chondrosarcoma','A slowly growing malignant neoplasm derived from cartilage cells.'),('HP:0006766','Papillary renal cell carcinoma','The presence of renal cell carcinoma in the renal papilla.'),('HP:0006767','Pituitary prolactin cell adenoma','A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.'),('HP:0006768','Localized neuroblastoma',''),('HP:0006769','Myxoid subcutaneous tumors',''),('HP:0006770','Clear cell renal cell carcinoma','A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.'),('HP:0006771','Duodenal adenocarcinoma','A malignant epithelial tumor with a glandular organization that originates in the duodenum.'),('HP:0006772','Renal angiomyolipoma','A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.'),('HP:0006773','Cutaneous angiolipomas',''),('HP:0006774','Ovarian papillary adenocarcinoma','The presence of a papillary adenocarcinoma of the ovary.'),('HP:0006775','Multiple myeloma','A malignant plasma cell tumor growing within soft tissue or within the skeleton.'),('HP:0006778','Benign genitourinary tract neoplasm','A non-malignant neoplasm of the genitourinary system.'),('HP:0006779','Alveolar rhabdomyosarcoma',''),('HP:0006780','Parathyroid carcinoma','A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.'),('HP:0006781','Hurthle cell thyroid adenoma','A kind of thyroid adenoma characterized by the presence of oxyphil cells.'),('HP:0006782','Malignant eosinophil proliferation',''),('HP:0006783','Posterior pharyngeal cleft',''),('HP:0006784','Paranasal sinus hypoplasia','Underdevelopment of the paranasal sinuses.'),('HP:0006785','Limb-girdle muscular dystrophy','Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).'),('HP:0006789','Mitochondrial encephalopathy',''),('HP:0006790','Cerebral cortex with spongiform changes',''),('HP:0006794','Loss of ability to walk in first decade',''),('HP:0006799','Basal ganglia cysts',''),('HP:0006801','Hyperactive deep tendon reflexes',''),('HP:0006802','Abnormal anterior horn cell morphology','Any anomaly of the anterior horn cell.'),('HP:0006803','Vivid hallucinations',''),('HP:0006808','Cerebral hypomyelination','Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.'),('HP:0006812','White mater abnormalities in the posterior periventricular region',''),('HP:0006813','Focal hemiclonic seizure','A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.'),('HP:0006817','Aplasia/Hypoplasia of the cerebellar vermis','Absence or underdevelopment of the vermis of cerebellum.'),('HP:0006818','4-layered lissencephaly','A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.'),('HP:0006821','Frontal polymicrogyria','A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.'),('HP:0006824','Cranial nerve paralysis',''),('HP:0006825','Pallor of dorsal columns of the spinal cord',''),('HP:0006827','Atrophy of the spinal cord',''),('HP:0006829','Severe muscular hypotonia','A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.'),('HP:0006830','obsolete Severe neonatal hypotonia in males',''),('HP:0006834','Developmental stagnation at onset of seizures','A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.'),('HP:0006837','Congenital Horner syndrome','A type of Horner syndrome with congenital onset.'),('HP:0006844','Absent patellar reflexes','Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.'),('HP:0006846','Acute encephalopathy',''),('HP:0006849','Hypodysplasia of the corpus callosum',''),('HP:0006850','Hypoplasia of the ventral pons','Underdevelopment of the ventral portion of the pons.'),('HP:0006851','Symmetric spinal nerve root neurofibromas','Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.'),('HP:0006852','Episodic generalized hypotonia','The occurrence of repeated episodes of generalized muscular hypotonia.'),('HP:0006855','Cerebellar vermis atrophy','Wasting (atrophy) of the vermis of cerebellum.'),('HP:0006858','Impaired distal proprioception','A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.'),('HP:0006859','Posterior leukoencephalopathy',''),('HP:0006863','Severe expressive language delay','A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0006865','Sensorimotor polyneuropathy affecting arms more than legs',''),('HP:0006866','Midline central nervous system lipomas',''),('HP:0006870','Lobar holoprosencephaly','A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.'),('HP:0006872','Cerebral hypoplasia','Underdevelopment of the cerebrum.'),('HP:0006873','Symmetrical progressive peripheral demyelination','A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0006877','obsolete Mental retardation, in some',''),('HP:0006879','Pontocerebellar atrophy','Atrophy affecting the pons and the cerebellum.'),('HP:0006880','Cerebellar hemangioblastoma','A hemangioblastoma of the cerebellum.'),('HP:0006881','Diffuse peripheral demyelination','A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0006882','Severe hydrocephalus',''),('HP:0006886','Impaired distal vibration sensation','A decrease in the ability to perceive vibration in the distal portions of the limbs.'),('HP:0006887','Intellectual disability, progressive','The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.'),('HP:0006888','Meningoencephalocele',''),('HP:0006889','Intellectual disability, borderline','Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.'),('HP:0006891','Thick cerebral cortex',''),('HP:0006892','Frontotemporal cerebral atrophy','Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.'),('HP:0006893','Severely dysplastic cerebellum',''),('HP:0006894','Hypoplastic olfactory lobes',''),('HP:0006895','Lower limb hypertonia',''),('HP:0006896','Hypnopompic hallucinations',''),('HP:0006897','Cranial nerve VI palsy',''),('HP:0006899','Fusion of the cerebellar hemispheres',''),('HP:0006901','Impaired thermal sensitivity',''),('HP:0006903','Congenital peripheral neuropathy',''),('HP:0006904','Late-onset spinocerebellar degeneration',''),('HP:0006906','Congenital intracerebral calcification','The presence of calcium deposition within brain structures that is present already at the time of birth.'),('HP:0006913','Frontal cortical atrophy','Atrophy of the frontal cortex.'),('HP:0006915','Inability to walk by childhood/adolescence',''),('HP:0006916','Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material','Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.'),('HP:0006918','Diffuse cerebral sclerosis',''),('HP:0006919','Abnormal aggressive, impulsive or violent behavior',''),('HP:0006921','Axial muscle stiffness','Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.'),('HP:0006926','Metachromatic leukodystrophy variant',''),('HP:0006927','Unilateral polymicrogyria','Excessive number of small gyri (convolutions) on the surface of one side of the brain.'),('HP:0006929','Hypoglycemic encephalopathy','Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.'),('HP:0006930','Frontoparietal cortical dysplasia','The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.'),('HP:0006931','Lipoma of corpus callosum',''),('HP:0006932','Transient psychotic episodes',''),('HP:0006934','Congenital nystagmus','Nystagmus dating from or present at birth.'),('HP:0006937','Impaired distal tactile sensation','A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel`s hair brush, by asking patients to say `now` each time they feel the stimulus.'),('HP:0006938','Impaired vibration sensation at ankles','A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.'),('HP:0006943','Diffuse spongiform leukoencephalopathy',''),('HP:0006944','Abolished vibration sense','A complete loss of the ability to perceive vibration.'),('HP:0006946','Recurrent meningitis','An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.'),('HP:0006949','Episodic peripheral neuropathy',''),('HP:0006951','Retrocerebellar cyst',''),('HP:0006955','Olivopontocerebellar hypoplasia','Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.'),('HP:0006956','Dilation of lateral ventricles',''),('HP:0006957','Loss of ability to walk',''),('HP:0006958','Abnormal auditory evoked potentials','An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.'),('HP:0006959','Proximal spinal muscular atrophy','Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.'),('HP:0006960','Choroid plexus calcification','The presence of calcium deposition in the choroid plexus.'),('HP:0006961','Jerky head movements',''),('HP:0006962','Gait instability, worse in the dark',''),('HP:0006964','Cerebral cortical neurodegeneration',''),('HP:0006965','Acute necrotizing encephalopathy',''),('HP:0006970','Periventricular leukomalacia',''),('HP:0006976','Necrotizing encephalopathy','A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.'),('HP:0006977','Grammar-specific speech disorder',''),('HP:0006978','Dysmyelinating leukodystrophy',''),('HP:0006979','Sleep-wake cycle disturbance','Any abnormal alteration of an individual`s circadian rhythm that affects the timing of sleeping and being awake.'),('HP:0006980','Progressive leukoencephalopathy','Leukoencephalopathy that gets more severe with time.'),('HP:0006983','Slowly progressive spastic quadriparesis',''),('HP:0006984','Distal sensory loss of all modalities',''),('HP:0006986','Upper limb spasticity',''),('HP:0006988','Alobar holoprosencephaly','A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.'),('HP:0006989','Dysplastic corpus callosum','Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.'),('HP:0006990','Myelin-dependent gliosis','A type of gliosis that occurs in the vicinity of injured neurons.'),('HP:0006992','Anterior basal encephalocele',''),('HP:0006994','Diffuse leukoencephalopathy',''),('HP:0006999','Basal ganglia gliosis','Focal proliferation of glial cells in the basal ganglia.'),('HP:0007000','Morning myoclonic jerks',''),('HP:0007001','Loss of Purkinje cells in the cerebellar vermis',''),('HP:0007002','Motor axonal neuropathy','Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.'),('HP:0007006','Dorsal column degeneration',''),('HP:0007007','Cavitation of the basal ganglia','The formation of small cavities in the tissue of the basal ganglia.'),('HP:0007009','Central nervous system degeneration',''),('HP:0007010','Poor fine motor coordination','An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.'),('HP:0007011','Fourth cranial nerve palsy','Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.'),('HP:0007015','Poor gross motor coordination','An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.'),('HP:0007016','Corticospinal tract hypoplasia',''),('HP:0007017','Progressive forgetfulness',''),('HP:0007018','Attention deficit hyperactivity disorder','Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.'),('HP:0007020','Progressive spastic paraplegia',''),('HP:0007021','Pain insensitivity','Inability to perceive painful stimuli.'),('HP:0007023','Antenatal intracerebral hemorrhage','Cerebral hemorrhage that occurs before birth.'),('HP:0007024','Pseudobulbar paralysis','Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.'),('HP:0007027','Poorly formed metencephalon','A morphological abnormality of the metencephalon.'),('HP:0007029','Cerebral berry aneurysm','A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.'),('HP:0007030','Nonprogressive encephalopathy',''),('HP:0007033','Cerebellar dysplasia','The presence of dysplasia (abnormal growth or development) of the cerebellum. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome.'),('HP:0007034','Generalized hyperreflexia',''),('HP:0007035','Anterior encephalocele',''),('HP:0007036','Hypoplasia of olfactory tract',''),('HP:0007039','Symmetric lesions of the basal ganglia',''),('HP:0007041','Chronic lymphocytic meningitis','Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).'),('HP:0007042','Focal white matter lesions',''),('HP:0007045','Midline brain calcifications',''),('HP:0007047','Atrophy of the dentate nucleus','Partial or complete wasting (loss) of dentate nucleus.'),('HP:0007048','Large basal ganglia','Increased size of the basal ganglia.'),('HP:0007052','Multifocal cerebral white matter abnormalities',''),('HP:0007054','Hyperreflexia proximally',''),('HP:0007057','Poor hand-eye coordination',''),('HP:0007058','Generalized cerebral atrophy/hypoplasia','Generalized atrophy or hypoplasia of the cerebrum.'),('HP:0007063','Aplasia of the inferior half of the cerebellar vermis',''),('HP:0007064','Progressive language deterioration','Progressive loss of previously present language abilities.'),('HP:0007065','Disorganization of the anterior cerebellar vermis',''),('HP:0007066','Proximal limb muscle stiffness',''),('HP:0007067','Distal peripheral sensory neuropathy','Peripheral sensory neuropathy affecting primarily distal sensation.'),('HP:0007068','Inferior vermis hypoplasia','Underdevelopment of the inferior portion of the vermis of cerebellum.'),('HP:0007069','Profound static encephalopathy',''),('HP:0007074','Thick corpus callosum','Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.'),('HP:0007076','Extrapyramidal muscular rigidity','Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).'),('HP:0007078','Decreased amplitude of sensory action potentials','A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.'),('HP:0007081','Late-onset muscular dystrophy',''),('HP:0007082','Dilated third ventricle','An increase in size of the third ventricle.'),('HP:0007083','Hyperactive patellar reflex',''),('HP:0007086','Social and occupational deterioration',''),('HP:0007087','obsolete Involuntary jerking movements',''),('HP:0007089','Facial-lingual fasciculations','Fasciculations affecting the tongue muscle and the musculature of the face.'),('HP:0007095','Frontoparietal polymicrogyria','An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region.'),('HP:0007096','Hypoplasia of the optic tract',''),('HP:0007097','Cranial nerve motor loss',''),('HP:0007098','Paroxysmal choreoathetosis','Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.'),('HP:0007099','Arnold-Chiari type I malformation','Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle.'),('HP:0007100','Progressive ventriculomegaly',''),('HP:0007103','Hypointensity of cerebral white matter on MRI','A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.'),('HP:0007104','Prolonged somatosensory evoked potentials',''),('HP:0007105','Infantile encephalopathy','Encephalopathy with onset in the infantile period.'),('HP:0007107','Segmental peripheral demyelination','A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.'),('HP:0007108','Demyelinating peripheral neuropathy','Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.'),('HP:0007109','Periventricular cysts',''),('HP:0007110','Central hypoventilation',''),('HP:0007111','Chronic hepatic encephalopathy',''),('HP:0007112','Temporal cortical atrophy','Atrophy of the temporal cortex.'),('HP:0007115','Orbital encephalocele',''),('HP:0007117','Corticospinal tract atrophy',''),('HP:0007123','Subcortical dementia','A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.'),('HP:0007126','Proximal amyotrophy','Amyotrophy (muscular atrophy) affecting the proximal musculature.'),('HP:0007129','Cerebellar medulloblastoma',''),('HP:0007131','Acute demyelinating polyneuropathy','Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.'),('HP:0007132','Pallidal degeneration','Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.'),('HP:0007133','Progressive peripheral neuropathy',''),('HP:0007141','Sensorimotor neuropathy',''),('HP:0007146','Bilateral basal ganglia lesions',''),('HP:0007149','Distal upper limb amyotrophy','Muscular atrophy of distal arm muscles.'),('HP:0007153','Progressive extrapyramidal movement disorder',''),('HP:0007156','Asymmetric limb muscle stiffness','Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.'),('HP:0007158','Progressive extrapyramidal muscular rigidity','A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).'),('HP:0007159','Fluctuations in consciousness',''),('HP:0007162','Diffuse demyelination of the cerebral white matter','A diffuse loss of myelin from nerve fibers in the central nervous system.'),('HP:0007163','obsolete Corticospinal tract disease in lower limbs',''),('HP:0007164','Slowed slurred speech',''),('HP:0007165','Periventricular heterotopia','A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.'),('HP:0007166','Paroxysmal dyskinesia','Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.'),('HP:0007178','Motor polyneuropathy',''),('HP:0007179','Absent smooth pursuit','A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.'),('HP:0007181','Interosseus muscle atrophy','Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.'),('HP:0007182','Peripheral hypomyelination','Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.'),('HP:0007183','Focal T2 hyperintense basal ganglia lesion','A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.'),('HP:0007185','Loss of consciousness',''),('HP:0007187','Focal lissencephaly','A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.'),('HP:0007188','Congenital facial diplegia','Facial diplegia (that is, bilateral facial palsy) with congenital onset.'),('HP:0007190','Neuronal loss in the cerebral cortex',''),('HP:0007193','Generalized tonic-clonic seizures on awakening','Generalized tonic-clonic seizures on awakening are a form of Generalized tonic-clonic seizures that occur upon awaking.'),('HP:0007199','Progressive spastic paraparesis',''),('HP:0007200','Episodic hypersomnia',''),('HP:0007201','Cerebral artery atherosclerosis','Atherosclerosis (HP:0002621) of a cerebral artery.'),('HP:0007204','Diffuse white matter abnormalities',''),('HP:0007206','Hemimegalencephaly','Enlargement of all or parts of one cerebral hemisphere.'),('HP:0007207','Photosensitive tonic-clonic seizure','Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.'),('HP:0007208','Irregular myelin loops','Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.'),('HP:0007209','Facial paralysis','Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).'),('HP:0007210','Lower limb amyotrophy','Muscular atrophy affecting the lower limb.'),('HP:0007215','Periodic hyperkalemic paralysis','Episodes of muscle weakness associated with elevated levels of potassium in the blood.'),('HP:0007220','Demyelinating motor neuropathy','Demyelination of peripheral motor nerves.'),('HP:0007221','Progressive truncal ataxia',''),('HP:0007227','Macrogyria','Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.'),('HP:0007229','Intracerebral periventricular calcifications','The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.'),('HP:0007230','Decreased distal sensory nerve action potential','A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.'),('HP:0007232','Spinocerebellar tract disease in lower limbs',''),('HP:0007233','Clusters of axonal regeneration','Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.'),('HP:0007236','Recurrent subcortical infarcts',''),('HP:0007238','Nonarteriosclerotic cerebral calcification',''),('HP:0007239','Congenital encephalopathy',''),('HP:0007240','Progressive gait ataxia','A type of gait ataxia displaying progression of clinical severity.'),('HP:0007249','Decreased number of small peripheral myelinated nerve fibers',''),('HP:0007250','Recurrent external ophthalmoplegia','Alternating and recurrent weakness of the external ocular muscles.'),('HP:0007256','Abnormal pyramidal sign','Functional neurological abnormalities related to dysfunction of the pyramidal tract.'),('HP:0007258','Severe demyelination of the white matter','A severe loss of myelin from nerve fibers in the central nervous system.'),('HP:0007260','Type II lissencephaly','A form of lissencephaly characterized by an uneven cortical surface with a so called `cobblestone` appearace. There are no distinguishable cortical layers.'),('HP:0007262','Symmetric peripheral demyelination','A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0007263','Spinocerebellar atrophy','Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.'),('HP:0007265','Absent mesencephalon','Agenesis of the midbrain.'),('HP:0007266','Cerebral dysmyelination','Defective structure and function of myelin sheaths of the white matter of the brain.'),('HP:0007267','Chronic axonal neuropathy','An abnormality characterized by chronic impairment of the normal functioning of the axons.'),('HP:0007268','Aprosencephaly',''),('HP:0007269','Spinal muscular atrophy','Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.'),('HP:0007270','Atypical absence seizure','An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.'),('HP:0007271','Occipital myelomeningocele',''),('HP:0007272','Progressive psychomotor deterioration',''),('HP:0007274','Recurrent bacterial meningitis','An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.'),('HP:0007277','Paucity of anterior horn motor neurons',''),('HP:0007280','Acute infantile spinal muscular atrophy',''),('HP:0007281','Developmental stagnation','A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.'),('HP:0007285','Facial palsy secondary to cranial hyperostosis','Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.'),('HP:0007286','Horizontal jerk nystagmus','Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.'),('HP:0007289','Limb fasciculations','Fasciculations affecting the musculature of the arms and legs.'),('HP:0007291','Posterior fossa cyst','A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.'),('HP:0007293','Anterior sacral meningocele',''),('HP:0007295','Chaotic rapid conjugate ocular movements',''),('HP:0007299','Dysfunction of lateral corticospinal tracts',''),('HP:0007301','Oromotor apraxia',''),('HP:0007302','Bipolar affective disorder',''),('HP:0007305','CNS demyelination','A loss of myelin from nerve fibers in the central nervous system.'),('HP:0007307','Rapid neurologic deterioration',''),('HP:0007308','Extrapyramidal dyskinesia',''),('HP:0007311','Short stepped shuffling gait',''),('HP:0007313','Cerebral degeneration',''),('HP:0007314','obsolete White matter neuronal heterotopia',''),('HP:0007316','obsolete Involuntary writhing movements',''),('HP:0007321','Deep white matter hypodensities','Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.'),('HP:0007325','Generalized dystonia','A type of dystonia that affects all or most of the body.'),('HP:0007326','Progressive choreoathetosis',''),('HP:0007327','Mixed demyelinating and axonal polyneuropathy',''),('HP:0007328','Impaired pain sensation','Reduced ability to perceive painful stimuli.'),('HP:0007330','Frontal encephalocele',''),('HP:0007332','Focal hemifacial clonic seizure','Focal seizure characterized at onset by clonic movements affecting half of the face.'),('HP:0007333','Hypoplasia of the frontal lobes','Underdevelopment of the frontal lobe of the cerebrum.'),('HP:0007334','Bilateral tonic-clonic seizure with focal onset','A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.'),('HP:0007335','Recurrent encephalopathy','Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.'),('HP:0007338','Hypermetric saccades','A saccade that overshoots the target with the dynamic saccade.'),('HP:0007340','Lower limb muscle weakness','Weakness of the muscles of the legs.'),('HP:0007341','Diffuse swelling of cerebral white matter',''),('HP:0007343','Abnormal morphology of the limbic system','Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn`t correspond closely to the anatomical meaning any longer. [BirnLex].'),('HP:0007344','Atrophy/Degeneration involving the spinal cord',''),('HP:0007346','Subcortical white matter calcifications',''),('HP:0007348','Hypoplasia of the pyramidal tract',''),('HP:0007350','Hyperreflexia in upper limbs',''),('HP:0007351','Upper limb postural tremor','A type of tremors that is triggered by holding an arm in a fixed position.'),('HP:0007352','Cerebellar calcifications',''),('HP:0007354','Amyotrophic lateral sclerosis',''),('HP:0007359','Focal-onset seizure','A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.'),('HP:0007360','Aplasia/Hypoplasia of the cerebellum',''),('HP:0007361','Abnormality of the pons','An abnormality of the pons.'),('HP:0007362','Aplasia/Hypoplasia of the brainstem',''),('HP:0007363','Aplasia/Hypoplasia of the pyramidal tract',''),('HP:0007364','Aplasia/Hypoplasia of the cerebrum',''),('HP:0007365','Aplasia/Hypoplasia involving the corticospinal tracts',''),('HP:0007366','Atrophy/Degeneration affecting the brainstem',''),('HP:0007367','Atrophy/Degeneration affecting the central nervous system',''),('HP:0007369','Atrophy/Degeneration affecting the cerebrum','The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.'),('HP:0007370','Aplasia/Hypoplasia of the corpus callosum','Absence or underdevelopment of the corpus callosum.'),('HP:0007371','Corpus callosum atrophy','The presence of atrophy (wasting) of the corpus callosum.'),('HP:0007372','Atrophy/Degeneration involving the corticospinal tracts',''),('HP:0007373','Motor neuron atrophy','Wasting involving the motor neuron.'),('HP:0007374','Atrophy/Degeneration involving the caudate nucleus',''),('HP:0007375','Abnormality of the septum pellucidum','An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.'),('HP:0007376','Abnormality of the choroid plexus','An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.'),('HP:0007377','Abnormality of somatosensory evoked potentials','An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.'),('HP:0007378','Neoplasm of the gastrointestinal tract','A tumor (abnormal growth of tissue) of the gastrointestinal tract.'),('HP:0007379','Neoplasm of the genitourinary tract','A tumor (abnormal growth of tissue) of the genitourinary system.'),('HP:0007380','Facial telangiectasia','Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.'),('HP:0007381','Congenital exfoliative erythroderma',''),('HP:0007383','Congenital localized absence of skin',''),('HP:0007384','Aberrant melanosome maturation',''),('HP:0007385','Aplasia cutis congenita of scalp','A developmental defect resulting in the congenital absence of skin on the scalp.'),('HP:0007387','Hypoplastic sweat glands','Underdevelopment of the sweat glands.'),('HP:0007390','Hyperkeratosis with erythema',''),('HP:0007392','Excessive wrinkled skin',''),('HP:0007394','Prominent superficial blood vessels',''),('HP:0007395','Postnatal-onset ichthyosiform erythroderma','A type of ichthyosiform erythroderma with postnatal onset.'),('HP:0007396','Early cutaneous photosensitivity','Photosensitivity of the skin occurring early in life.'),('HP:0007397','Axillary apocrine gland hypoplasia','Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.'),('HP:0007398','Asymmetric, linear skin defects',''),('HP:0007400','Irregular hyperpigmentation',''),('HP:0007401','Macular atrophy','Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.'),('HP:0007402','Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines',''),('HP:0007403','Hypertrophy of skin of soles',''),('HP:0007404','Nonepidermolytic palmoplantar keratoderma',''),('HP:0007406','Hyperpigmentation of eyelids',''),('HP:0007407','Excessive skin wrinkling on dorsum of hands and fingers',''),('HP:0007408','Tegumentary leishmaniasis susceptibility','Increased susceptibility to infection by the protozan parasite of the genus Leishmania.'),('HP:0007409','obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs',''),('HP:0007410','Palmoplantar hyperhidrosis','An abnormally increased perspiration on palms and soles.'),('HP:0007411','Hypoplastic-absent sebaceous glands',''),('HP:0007412','Macular hyperpigmented dermopathy',''),('HP:0007413','Nevus flammeus of the forehead','Naevus flammeus localised in the skin of the forehead.'),('HP:0007414','Neonatal wrinkled skin of hands and feet',''),('HP:0007417','Discoid lupus rash','Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.'),('HP:0007418','Alopecia totalis','Loss of all scalp hair.'),('HP:0007420','Spontaneous hematomas','Spontaneous development of hematomas (hematoma) or bruises without significant trauma.'),('HP:0007421','Telangiectases of the cheeks','Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.'),('HP:0007425','Hyperextensible skin of face',''),('HP:0007427','Reticulated skin pigmentation',''),('HP:0007428','Telangiectasia of the oral mucosa','Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.'),('HP:0007429','Few cafe-au-lait spots','The presence of two to five cafe-au-lait macules.'),('HP:0007430','Generalized edema','Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.'),('HP:0007431','Congenital ichthyosiform erythroderma','An ichthyosiform abnormality of the skin with congenital onset.'),('HP:0007432','Intermittent generalized erythematous papular rash',''),('HP:0007434','Plaque-like facial hemangioma','Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.'),('HP:0007435','Diffuse palmoplantar keratoderma',''),('HP:0007436','Hair-nail ectodermal dysplasia',''),('HP:0007437','Multiple cutaneous leiomyomas','The presence of multiple leiomyomas of the skin.'),('HP:0007438','Mottled pigmentation of the trunk and proximal extremities',''),('HP:0007439','Generalized keratosis follicularis',''),('HP:0007440','Generalized hyperpigmentation',''),('HP:0007441','Hyperpigmented/hypopigmented macules',''),('HP:0007443','Partial albinism','Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.'),('HP:0007446','Palmoplantar blistering','A type of blistering that affects the skin of the palms of the hands and the soles of the feet.'),('HP:0007447','Diffuse palmoplantar hyperkeratosis',''),('HP:0007448','Hyperkeratosis over edematous areas',''),('HP:0007449','Confetti-like hypopigmented macules',''),('HP:0007450','Increased groin pigmentation with raindrop depigmentation',''),('HP:0007451','Ipsilateral lack of facial sweating',''),('HP:0007452','Midface capillary hemangioma',''),('HP:0007453','Flexural lichenification','Lichenification affecting primarily flexural areas of the skin.'),('HP:0007455','Adermatoglyphia',''),('HP:0007456','Progressive reticulate hyperpigmentation',''),('HP:0007457','Prominent veins on trunk','Prominent thoracic and abdominal veins.'),('HP:0007458','Focal hyperextensible skin',''),('HP:0007459','Generalized anhidrosis',''),('HP:0007460','Autoamputation of digits',''),('HP:0007461','Hemangiomatosis',''),('HP:0007462','Bitot spots of the conjunctiva','Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.'),('HP:0007464','Sparse facial hair','Reduced number or density of facial hair.'),('HP:0007465','Honeycomb palmoplantar keratoderma',''),('HP:0007466','Midfrontal capillary hemangioma',''),('HP:0007468','Perifollicular hyperkeratosis','Increased amount of keratin (visible as white scales) surrounding hair follicles.'),('HP:0007469','Palmoplantar cutis gyrata','Cutis gyrata of palms and soles.'),('HP:0007470','Periarticular subcutaneous nodules','Subcutaneous nodules that are located in the vicinity of joints.'),('HP:0007471','Axillary and groin hyperpigmentation and hypopigmentation',''),('HP:0007473','Crusting erythematous dermatitis',''),('HP:0007475','Congenital bullous ichthyosiform erythroderma','An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.'),('HP:0007476','Anhidrotic ectodermal dysplasia',''),('HP:0007477','Abnormal dermatoglyphics','An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.'),('HP:0007479','Congenital nonbullous ichthyosiform erythroderma','The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.'),('HP:0007480','Decreased sweating due to autonomic dysfunction',''),('HP:0007481','Hyperpigmented nevi',''),('HP:0007482','Generalized papillary lesions',''),('HP:0007483','Depigmentation/hyperpigmentation of skin',''),('HP:0007485','Absence of subcutaneous fat','Lack of subcutaneous adipose tissue.'),('HP:0007486','Cavernous hemangioma of the face',''),('HP:0007488','Diffuse skin atrophy',''),('HP:0007489','Diffuse telangiectasia','Telangiectases (small dilated blood vessels) with a diffuse localization.'),('HP:0007490','Linear arrays of macular hyperkeratoses in flexural areas',''),('HP:0007494','Discrete 2 to 5-mm hyper- and hypopigmented macules',''),('HP:0007495','Prematurely aged appearance',''),('HP:0007497','Focal friction-related palmoplantar hyperkeratosis','Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.'),('HP:0007499','Recurrent staphylococcal infections','Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.'),('HP:0007500','Decreased number of sweat glands','The presence of fewer than normal sweat glands.'),('HP:0007501','Streaks of hyperkeratosis along each finger onto the palm',''),('HP:0007502','Follicular hyperkeratosis','A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.'),('HP:0007503','Generalized ichthyosis',''),('HP:0007504','Diffuse slow skin atrophy',''),('HP:0007505','Progressive hyperpigmentation',''),('HP:0007506','Congenital absence of skin of limbs',''),('HP:0007508','Punctate palmar hyperkeratosis','Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.'),('HP:0007509','Patchy hypo- and hyperpigmentation',''),('HP:0007510','Focal dermal aplasia/hypoplasia',''),('HP:0007511','Mottled pigmentation of photoexposed areas',''),('HP:0007513','Generalized hypopigmentation',''),('HP:0007514','Edema of the dorsum of hands','An abnormal accumulation of fluid beneath the skin on the back of the hands.'),('HP:0007515','Hypoplastic pilosebaceous units',''),('HP:0007516','Redundant skin on fingers','Loose and sagging skin of the fingers.'),('HP:0007517','Palmoplantar cutis laxa','Loose, wrinkled skin of hands and feet.'),('HP:0007519','obsolete Lack of subcutaneous fatty tissue',''),('HP:0007521','Irregular hyperpigmentation of back',''),('HP:0007522','Increased number of skin folds',''),('HP:0007524','Atypical neurofibromatosis',''),('HP:0007525','Yellow subcutaneous tissue covered by thin, scaly skin',''),('HP:0007526','Hypopigmented skin patches on arms',''),('HP:0007529','Hidrotic ectodermal dysplasia',''),('HP:0007530','Punctate palmoplantar hyperkeratosis',''),('HP:0007534','Congenital posterior occipital alopecia','Loss of hair in the occipital region of the scalp with congenital onset.'),('HP:0007535','Hypopigmented streaks',''),('HP:0007536','Aplasia cutis congenita of midline scalp vertex',''),('HP:0007537','Severe photosensitivity','A severe degree of photosensitivity of the skin.'),('HP:0007541','Frontal cutaneous lipoma','Presence of a cutaneous lipoma on the forehead.'),('HP:0007542','Absent pigmentation of the ventral chest','Lack of skin pigmentation (coloring) of the anterior chest.'),('HP:0007543','Epidermal hyperkeratosis',''),('HP:0007544','Piebaldism','Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.'),('HP:0007545','Congenital palmoplantar keratosis',''),('HP:0007546','Linear hyperpigmentation',''),('HP:0007548','Palmoplantar keratosis with erythema and scale',''),('HP:0007549','Desquamation of skin soon after birth',''),('HP:0007550','Hypohidrosis or hyperhidrosis',''),('HP:0007552','Abnormal subcutaneous fat tissue distribution',''),('HP:0007553','Congenital symmetrical palmoplantar keratosis',''),('HP:0007554','Confetti hypopigmentation pattern of lower leg skin',''),('HP:0007556','Plantar hyperkeratosis','Hyperkeratosis affecting the sole of the foot.'),('HP:0007559','Localized epidermolytic hyperkeratosis',''),('HP:0007560','Unusual dermatoglyphics',''),('HP:0007561','Telangiectases in sun-exposed and nonexposed skin',''),('HP:0007565','Multiple cafe-au-lait spots','The presence of six or more cafe-au-lait spots.'),('HP:0007566','Index finger dermatoglyphic radial loop',''),('HP:0007569','Generalized seborrheic dermatitis','Seborrheic dermatitis that is not localized to any one particular region.'),('HP:0007570','Hyperkeratosis lenticularis perstans','Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.'),('HP:0007572','Hyperpigmented streaks',''),('HP:0007573','Late onset atopic dermatitis','A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.'),('HP:0007574','Generalized bronze hyperpigmentation',''),('HP:0007576','Palmar neurofibromas',''),('HP:0007581','Mediosternal, longitudinal streak of hypopigmentation',''),('HP:0007583','Telangiectasia macularis eruptiva perstans',''),('HP:0007585','Skin fragility with non-scarring blistering',''),('HP:0007586','Telangiectases producing `marbled` skin',''),('HP:0007587','Numerous pigmented freckles',''),('HP:0007588','Reticular hyperpigmentation','Increased pigmentation of the skin with a netlike (reticular) pattern.'),('HP:0007589','Aplasia cutis congenita on trunk or limbs','A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.'),('HP:0007590','Aplasia cutis congenita over posterior parietal area',''),('HP:0007592','Aplasia/Hypoplastia of the eccrine sweat glands','Absence or developmental hypoplasia of the eccrine sweat glands.'),('HP:0007595','Redundant skin in infancy',''),('HP:0007596','Painful subcutaneous lipomas','The presence of multiple subcutaneous lipoma that cause pain.'),('HP:0007597','Congenital palmoplantar keratodermia',''),('HP:0007598','Bilateral single transverse palmar creases','The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.'),('HP:0007599','Generalized reticulate brown pigmentation',''),('HP:0007601','Midline facial capillary hemangioma',''),('HP:0007602','Complex palmar dermatoglyphic pattern',''),('HP:0007603','Freckles in sun-exposed areas',''),('HP:0007605','Excessive wrinkling of palmar skin',''),('HP:0007606','Multiple cutaneous malignancies',''),('HP:0007607','Hypohidrotic ectodermal dysplasia',''),('HP:0007608','Abnormal palmar dermal ridges',''),('HP:0007609','Hypoproteinemic edema','An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).'),('HP:0007610','Blotching pigmentation of the skin',''),('HP:0007613','Spinous keratoses of palms and soles',''),('HP:0007616','Nevus flammeus nuchae','Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.'),('HP:0007617','Fine, reticulate skin pigmentation',''),('HP:0007618','Subcutaneous calcification','Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).'),('HP:0007620','Cutaneous leiomyoma','The presence of leiomyoma of the skin.'),('HP:0007621','Telangiectasia of extensor surfaces',''),('HP:0007623','Pigmentation anomalies of sun-exposed skin',''),('HP:0007626','Mandibular osteomyelitis','Osteomyelitis of the lower jaw.'),('HP:0007627','Mandibular condyle aplasia',''),('HP:0007628','Mandibular condyle hypoplasia',''),('HP:0007633','Bilateral microphthalmos','A developmental anomaly characterized by abnormal smallness of both eyes.'),('HP:0007634','Nonarteritic anterior ischemic optic neuropathy','An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.'),('HP:0007641','Dyschromatopsia','A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.'),('HP:0007642','Congenital stationary night blindness','A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.'),('HP:0007643','Peripheral tractional retinal detachment','Tractional retinal detachment at the periphery of the retina.'),('HP:0007646','Absent lower eyelashes','Lack of eyelashes on the lower lid.'),('HP:0007647','Congenital extraocular muscle anomaly','Congenital abnormality of the extraocular muscles.'),('HP:0007648','Punctate cataract','A type of cataract with punctate opacities of the lens.'),('HP:0007649','Congenital hypertrophy of retinal pigment epithelium','Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.'),('HP:0007650','Progressive ophthalmoplegia',''),('HP:0007651','Ectropion of lower eyelids',''),('HP:0007654','obsolete Retinal striation',''),('HP:0007655','Eversion of lateral third of lower eyelids',''),('HP:0007656','Lacrimal gland aplasia','A congenital defect of development characterized by absence of the lacrimal gland.'),('HP:0007657','Diffuse nuclear cataract','Opacity of the entire lens nucleus.'),('HP:0007658','Large hyperpigmented retinal spots',''),('HP:0007659','obsolete Decreased retinal pigmentation with dispersion',''),('HP:0007661','Abnormality of chorioretinal pigmentation',''),('HP:0007663','Reduced visual acuity',''),('HP:0007665','Curly eyelashes','Abnormally curly or curved eyelashes.'),('HP:0007667','Peripheral cystoid retinal degeneration','Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.'),('HP:0007668','Impaired pursuit initiation and maintenance',''),('HP:0007670','Abnormal vestibulo-ocular reflex','An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.'),('HP:0007675','Progressive night blindness',''),('HP:0007676','Hypoplasia of the iris','Congenital underdevelopment of the iris.'),('HP:0007677','Vitelliform-like macular lesions','Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.'),('HP:0007678','Lacrimal duct stenosis','Narrowing of a tear duct (lacrimal duct).'),('HP:0007680','Depigmented fundus',''),('HP:0007685','Peripheral retinal avascularization',''),('HP:0007686','Abnormal pupillary function','A functional abnormality of the pupil.'),('HP:0007687','Unilateral ptosis','A unilateral form of ptosis.'),('HP:0007688','Undetectable light- and dark-adapted electroretinogram','Absence of the combined rod-and-cone response on electroretinogram.'),('HP:0007690','Map-dot-fingerprint corneal dystrophy',''),('HP:0007691','obsolete Short curly eyelashes',''),('HP:0007692','obsolete Nonnuclear polymorphic congenital cataract',''),('HP:0007695','Abnormal pupillary light reflex','An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.'),('HP:0007697','Hypoplasia of the lower eyelids','Underdevelopment of the lower eyelid.'),('HP:0007698','obsolete Retinal pigment epithelial atrophy',''),('HP:0007700','Ocular anterior segment dysgenesis','Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.'),('HP:0007702','obsolete Pigmentary retinal deposits',''),('HP:0007703','Abnormality of retinal pigmentation',''),('HP:0007704','Paroxysmal involuntary eye movements','Sudden-onset episode of abnormal, involuntary eye movements.'),('HP:0007705','Corneal degeneration',''),('HP:0007707','Congenital aphakia','Absence of the crystalline lens of the eye as a result of a developmental defect.'),('HP:0007708','Absent inner eyelashes',''),('HP:0007709','Band-shaped corneal dystrophy',''),('HP:0007710','Peripheral vitreous opacities',''),('HP:0007712','obsolete Choroidal dystrophy',''),('HP:0007713','obsolete Juvenile zonular cataracts',''),('HP:0007715','Weak extraocular muscles',''),('HP:0007716','Uveal melanoma','A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).'),('HP:0007717','Chronic irritative conjunctivitis','A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.'),('HP:0007720','Flat cornea','Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.'),('HP:0007721','Saccular conjunctival dilatations','Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.'),('HP:0007722','Retinal pigment epithelial atrophy','Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.'),('HP:0007727','Opacification of the corneal epithelium','Lack of transparency of the corneal epithelium.'),('HP:0007728','Congenital miosis','Abnormal (non-physiological) constriction of the pupil of congenital onset.'),('HP:0007730','Iris hypopigmentation','An abnormal reduction in the amount of pigmentation of the iris.'),('HP:0007731','Chorioretinal dysplasia','Abnormal development of the choroid and retina.'),('HP:0007732','Lacrimal gland hypoplasia','Underdevelopment of the lacrimal gland.'),('HP:0007733','Laterally curved eyebrow',''),('HP:0007734','Enlarged lacrimal glands','Abnormally big lacrimal glands.'),('HP:0007736','obsolete Pericentral retinal dystrophy',''),('HP:0007737','Bone spicule pigmentation of the retina','Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).'),('HP:0007738','Uncontrolled eye movements',''),('HP:0007739','obsolete Mildly reduced visual acuity',''),('HP:0007740','Long eyelashes in irregular rows',''),('HP:0007744','obsolete Iridoretinal coloboma',''),('HP:0007747','Monocular horizontal nystagmus',''),('HP:0007748','obsolete Irido-fundal coloboma',''),('HP:0007750','Hypoplasia of the fovea','Underdevelopment of the fovea centralis.'),('HP:0007754','Macular dystrophy','Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.'),('HP:0007755','Juvenile epithelial corneal dystrophy',''),('HP:0007756','obsolete Slitlike anterior chamber angles in children',''),('HP:0007757','obsolete Hypoplasia of choroid',''),('HP:0007758','obsolete Congenital visual impairment',''),('HP:0007759','Opacification of the corneal stroma','Reduced transparency of the stroma of cornea.'),('HP:0007760','Crystalline corneal dystrophy',''),('HP:0007761','Pericentral scotoma','A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.'),('HP:0007763','Retinal telangiectasia','Dilatation of small blood vessels of the retina.'),('HP:0007765','Deep anterior chamber','Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.'),('HP:0007766','Optic disc hypoplasia','Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.'),('HP:0007768','Central retinal vessel vascular tortuosity','The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).'),('HP:0007769','Peripheral retinal degeneration',''),('HP:0007770','Hypoplasia of the retina',''),('HP:0007772','Impaired smooth pursuit','An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.'),('HP:0007773','Vitreoretinopathy','Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.'),('HP:0007774','Hypoplasia of the ciliary body','Underdevelopment of the ciliary body.'),('HP:0007776','Sparse lower eyelashes',''),('HP:0007777','Chorioretinal scar','Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.'),('HP:0007778','Posterior retinal neovascularization','A type of retinal neovascularization that affects the posterior pole of the retina.'),('HP:0007779','Anterior segment of eye aplasia',''),('HP:0007780','Cortical pulverulent cataract','A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.'),('HP:0007782','obsolete Peripheral retinal cone degeneration',''),('HP:0007783','obsolete Butterfly retinal pigment epithelial dystrophy',''),('HP:0007786','obsolete Lacunar retinal depigmentation',''),('HP:0007787','Posterior subcapsular cataract','A type of cataract affecting the posterior pole of lens immediately adjacent to (`beneath`) the Lens capsule.'),('HP:0007791','Patchy atrophy of the retinal pigment epithelium','Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.'),('HP:0007792','Microsaccadic pursuit',''),('HP:0007793','Granular macular appearance','Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.'),('HP:0007795','Anterior cortical cataract','A cataract that affects the anterior part of the cortex of the lens.'),('HP:0007797','Retinal vascular malformation',''),('HP:0007798','obsolete Foveal dystrophy',''),('HP:0007799','Conjunctival whitish salt-like deposits','The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.'),('HP:0007800','Increased axial length of the globe','Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.'),('HP:0007801','obsolete Fishnet retinal pigmentation',''),('HP:0007802','Granular corneal dystrophy','The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman`s layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.'),('HP:0007803','Monochromacy','Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.'),('HP:0007807','Optic nerve compression',''),('HP:0007808','obsolete Bilateral retinal coloboma',''),('HP:0007809','Punctate corneal dystrophy',''),('HP:0007810','obsolete Progressive bifocal chorioretinal atrophy',''),('HP:0007811','Horizontal pendular nystagmus','Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.'),('HP:0007812','Herpetiform corneal ulceration','The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.'),('HP:0007813','Nongranulomatous uveitis','A form of uveitis that is not associated with the formation of granulomas.'),('HP:0007814','Retinal pigment epithelial mottling','Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.'),('HP:0007815','Abnormal distribution of retinal arterioles and venules',''),('HP:0007817','Horizontal supranuclear gaze palsy','A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.'),('HP:0007818','Central heterochromia','The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.'),('HP:0007819','Presenile cataracts','Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.'),('HP:0007820','Lacrimal punctal atresia','Congenital absence or closure of the opening of the lacrimal punctum.'),('HP:0007822','Central retinal exudate',''),('HP:0007824','Total ophthalmoplegia','Paralysis of both the extrinsic and intrinsic ocular muscles.'),('HP:0007825','obsolete Cataracts develop in second or third decade',''),('HP:0007827','Nodular corneal dystrophy',''),('HP:0007829','obsolete Diffuse retinal cone degeneration',''),('HP:0007830','Adult-onset night blindness','Inability to see well at night or in poor light with onset in adulthood.'),('HP:0007831','Nonprogressive restrictive external ophthalmoplegia','Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.'),('HP:0007832','Pigmentation of the sclera',''),('HP:0007833','Anterior chamber synechiae',''),('HP:0007834','Progressive cataract','A kind of cataract that progresses with age.'),('HP:0007835','S-shaped palpebral fissures',''),('HP:0007836','Mosaic corneal dystrophy',''),('HP:0007838','Progressive ptosis','A progressive form of ptosis.'),('HP:0007840','Long upper eyelashes','Increased length of the upper eyelashes.'),('HP:0007841','Amyloid deposition in the vitreous humor','Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.'),('HP:0007843','Attenuation of retinal blood vessels',''),('HP:0007850','Retinal vascular proliferation',''),('HP:0007851','obsolete Temporal displacement of maculae',''),('HP:0007852','obsolete Pericentral pigmentary retinopathy',''),('HP:0007854','Glaucomatous visual field defect',''),('HP:0007856','Punctate opacification of the cornea','Punctate opacification (reduced transparency) of the corneal stroma.'),('HP:0007858','Chorioretinal lacunae','Punched out lesions in the pigmented layer of the retina.'),('HP:0007859','Congenital horizontal nystagmus','Horizontal nystagmus dating from or present at birth.'),('HP:0007862','Retinal calcification','Deposition of calcium salts in the retina.'),('HP:0007866','Retinal infarction',''),('HP:0007867','Restrictive partial external ophthalmoplegia','Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.'),('HP:0007868','obsolete Age-related macular degeneration',''),('HP:0007869','obsolete Peripheral retinopathy',''),('HP:0007872','Choroidal hemangioma','The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.'),('HP:0007873','Abnormally prominent line of Schwalbe',''),('HP:0007874','Almond-shaped palpebral fissure','A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.'),('HP:0007875','Congenital blindness','Blindness with onset at birth.'),('HP:0007876','obsolete Juvenile cortical cataract',''),('HP:0007879','Allergic conjunctivitis','Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.'),('HP:0007880','Marginal corneal dystrophy',''),('HP:0007881','Central corneal dystrophy',''),('HP:0007885','Slowed horizontal saccades','An abnormally slow velocity of horizontal saccadic eye movements.'),('HP:0007886','Absent extraocular muscles','Congenital absence of the extraocular muscles.'),('HP:0007889','Iridescent posterior subcapsular cataract','A type of posterior subcapsular cataract characterized by an iridescent color.'),('HP:0007892','Hypoplasia of the lacrimal punctum','Underdevelopment of the lacrimal puncta.'),('HP:0007893','obsolete Progressive retinal degeneration',''),('HP:0007894','Hypopigmentation of the fundus','Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).'),('HP:0007898','Exudative retinopathy',''),('HP:0007899','Retinal nonattachment','Failure of attachment of the retina during development.'),('HP:0007900','Hypoplastic lacrimal duct',''),('HP:0007901','obsolete Retinal malformation',''),('HP:0007902','Vitreous hemorrhage','Bleeding within the vitreous compartment of the eye.'),('HP:0007903','Paravenous chorioretinal atrophy','Chorioretinal atrophy along the retinal veins.'),('HP:0007905','Abnormal iris vasculature',''),('HP:0007906','Ocular hypertension','Intraocular pressure that is 2 standard deviations above the population mean.'),('HP:0007910','obsolete Nonprogressive congenital retinal dystrophy',''),('HP:0007911','Congenital bilateral ptosis',''),('HP:0007913','Reticular retinal dystrophy','A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.'),('HP:0007915','Polymorphous posterior corneal dystrophy','This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.'),('HP:0007916','obsolete Small anterior lens surface opacities',''),('HP:0007917','Tractional retinal detachment','A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.'),('HP:0007920','obsolete Congenital chorioretinal dystrophy',''),('HP:0007922','Hypermyelinated retinal nerve fibers',''),('HP:0007923','obsolete Foveal hyperplasia',''),('HP:0007924','Slow decrease in visual acuity',''),('HP:0007925','Lacrimal duct aplasia','A congenital defect resulting in absence of the lacrimal duct.'),('HP:0007928','Abnormal flash visual evoked potentials','Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.'),('HP:0007929','Peripheral retinal detachment','Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.'),('HP:0007930','obsolete Prominent epicanthal folds',''),('HP:0007932','Bilateral congenital mydriasis','Congenital abnormal dilation of the pupil on both sides.'),('HP:0007933','Broad lateral eyebrow','Regional increase in the width (height) of the lateral eyebrow.'),('HP:0007935','Juvenile posterior subcapsular lenticular opacities',''),('HP:0007936','Restrictive external ophthalmoplegia','Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.'),('HP:0007937','Reticular pigmentary degeneration','A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.'),('HP:0007939','Blue cone monochromacy','A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.'),('HP:0007941','Limited extraocular movements',''),('HP:0007942','Internal ophthalmoplegia','Paralysis of the iris and ciliary apparatus.'),('HP:0007943','Congenital stapes ankylosis','A form of stapes ankylosis with congenital onset.'),('HP:0007944','Intermittent microsaccadic pursuits',''),('HP:0007945','obsolete Choroidal degeneration',''),('HP:0007946','Unilateral narrow palpebral fissure','A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.'),('HP:0007947','Pericentral retinitis pigmentosa','A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.'),('HP:0007948','Dense posterior cortical cataract','A type of posterior cortical cataract characterized by dense lenticular opacities.'),('HP:0007949','obsolete Progressive macular scarring',''),('HP:0007950','Peripapillary chorioretinal atrophy','Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).'),('HP:0007956','obsolete Bilateral choroid coloboma',''),('HP:0007957','Corneal opacity','A reduction of corneal clarity.'),('HP:0007958','Optic atrophy from cranial nerve compression',''),('HP:0007961','obsolete Rarefaction of retinal pigmentation',''),('HP:0007962','Speckled corneal dystrophy',''),('HP:0007963','Pattern dystrophy of the retina','A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).'),('HP:0007964','Degenerative vitreoretinopathy',''),('HP:0007965','Undetectable visual evoked potentials',''),('HP:0007968','Remnants of the hyaloid vascular system','Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.'),('HP:0007970','Congenital ptosis',''),('HP:0007971','Lamellar cataract','A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.'),('HP:0007973','Retinal dysplasia','The presence of developmental dysplasia of the retina.'),('HP:0007975','Hypometric horizontal saccades','Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.'),('HP:0007976','Cerulean cataract','Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.'),('HP:0007979','Gaze-evoked horizontal nystagmus','Horizontal nystagmus made apparent by looking to the right or to the left.'),('HP:0007980','Absent retinal pigment epithelium',''),('HP:0007981','obsolete Concentric narrowing of visual field',''),('HP:0007982','obsolete Central tapetoretinal dystrophy',''),('HP:0007984','Electronegative electroretinogram','A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).'),('HP:0007985','Retinal arteriolar occlusion','Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.'),('HP:0007986','Increased retinal vascularity',''),('HP:0007987','Progressive visual field defects',''),('HP:0007988','Macular hypopigmentation','Decreased amount of pigmentation in the macula lutea.'),('HP:0007989','Intraretinal exudate','Retinal exudate within the retinal tissue itself.'),('HP:0007990','Hypoplastic iris stroma','Underdevelopment of the stroma of iris.'),('HP:0007992','Lattice retinal degeneration',''),('HP:0007993','Malformed lacrimal duct','Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.'),('HP:0007994','Peripheral visual field loss','Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.'),('HP:0008000','Decreased corneal reflex','An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.'),('HP:0008001','Foveal hyperpigmentation','Increased amount of pigmentation in the fovea centralis.'),('HP:0008002','Abnormality of macular pigmentation','Abnormality of macular or foveal pigmentation.'),('HP:0008003','Jerky ocular pursuit movements',''),('HP:0008005','Congenital corneal dystrophy',''),('HP:0008007','Primary congenital glaucoma',''),('HP:0008008','obsolete Progressive central visual loss',''),('HP:0008009','Three rows of eyelashes',''),('HP:0008011','Peripheral opacification of the cornea','Reduced transparency of the peripheral region of the cornea.'),('HP:0008012','obsolete Congenital myopia',''),('HP:0008014','Central fundal arteriolar microaneurysms','Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.'),('HP:0008017','obsolete Depigmented lesions of the retinal pigment epithelium',''),('HP:0008019','Superior lens subluxation','Partial dislocation of the lens in a superior direction.'),('HP:0008020','Cone dystrophy','Inherited progressive cone degeneration.'),('HP:0008024','obsolete Congenital nuclear cataract',''),('HP:0008026','Horizontal opticokinetic nystagmus',''),('HP:0008028','Cystoid macular degeneration','A form of macular degeneration characterized by the presence of multiple cysts in the macula.'),('HP:0008030','Retinal arteritis',''),('HP:0008031','Posterior Y-sutural cataract','A type of sutural cataract in which the opacity follows the posterior Y suture.'),('HP:0008033','obsolete Congenital exotropia',''),('HP:0008034','Abnormal iris pigmentation','Abnormal pigmentation of the iris.'),('HP:0008035','Retinitis pigmentosa inversa','Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).'),('HP:0008036','obsolete Rod-cone dystrophy',''),('HP:0008037','Absent anterior chamber of the eye','Absence of the anterior chamber of the eye owing to a developmental defect.'),('HP:0008038','Aplastic/hypoplastic lacrimal glands','Absence or underdevelopment of the lacrimal gland.'),('HP:0008039','Subepithelial corneal opacities',''),('HP:0008041','Late onset congenital glaucoma',''),('HP:0008043','Retinal arteriolar constriction','Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.'),('HP:0008045','Enlarged flash visual evoked potentials',''),('HP:0008046','Abnormal retinal vascular morphology','A structural abnormality of retinal vasculature.'),('HP:0008047','Abnormality of the vasculature of the eye',''),('HP:0008048','Abnormality of the line of Schwalbe','An abnormality of the line of Schwalbe.'),('HP:0008049','Abnormality of the extraocular muscles','An abnormality of an extraocular muscle.'),('HP:0008050','Abnormality of the palpebral fissures','An anomaly of the space between the medial and lateral canthi of the two open eyelids.'),('HP:0008051','obsolete Abnormality of the retinal pigment epithelium',''),('HP:0008052','Retinal fold','A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.'),('HP:0008053','Aplasia/Hypoplasia of the iris','Absence or underdevelopment of the iris.'),('HP:0008054','Abnormal morphology of the conjunctival vasculature','Any abnormality of the blood vessels of the conjunctiva.'),('HP:0008055','Aplasia/Hypoplasia affecting the uvea','Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.'),('HP:0008056','Aplasia/Hypoplasia affecting the eye',''),('HP:0008057','Aplasia/Hypoplasia affecting the fundus',''),('HP:0008058','Aplasia/Hypoplasia of the optic nerve',''),('HP:0008059','Aplasia/Hypoplasia of the macula',''),('HP:0008060','Aplasia/Hypoplasia of the fovea','Congenital absence or underdevelopment of the fovea centralis.'),('HP:0008061','Aplasia/Hypoplasia of the retina',''),('HP:0008062','Aplasia/Hypoplasia affecting the anterior segment of the eye','Absence or underdevelopment of the anterior segment of the eye.'),('HP:0008063','Aplasia/Hypoplasia of the lens','Absence or underdevelopment of the lens.'),('HP:0008064','Ichthyosis','An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.'),('HP:0008065','Aplasia/Hypoplasia of the skin',''),('HP:0008066','Abnormal blistering of the skin','The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.'),('HP:0008067','Abnormally lax or hyperextensible skin',''),('HP:0008069','Neoplasm of the skin','A tumor (abnormal growth of tissue) of the skin.'),('HP:0008070','Sparse hair','Reduced density of hairs.'),('HP:0008071','Maternal hypertension','Increased blood pressure during a pregnancy.'),('HP:0008072','Maternal virilization in pregnancy','Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.'),('HP:0008073','Low maternal serum estriol','An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age.'),('HP:0008074','Metatarsal periosteal thickening',''),('HP:0008075','Progressive pes cavus','The development of Pes cavus that is progressive with age.'),('HP:0008076','Osteoporotic tarsals','Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008078','Thin metatarsal cortices',''),('HP:0008079','Absent fifth metatarsal','A developmental abnormality characterized by the absence of the fifth metatarsal bone.'),('HP:0008080','Hallux varus','Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.'),('HP:0008081','Pes valgus','An outward deviation of the foot at the talocalcaneal or subtalar joint.'),('HP:0008082','Medial deviation of the foot',''),('HP:0008083','2nd-5th toe middle phalangeal hypoplasia',''),('HP:0008087','Nonossified fifth metatarsal','The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.'),('HP:0008089','Abnormality of the fifth metatarsal bone','An anomaly of the fifth metatarsal bone.'),('HP:0008090','Ankylosis of feet small joints',''),('HP:0008093','Short 4th toe','Underdevelopment (hypoplasia) of the fourth toe.'),('HP:0008094','Widely spaced toes','An overall widening of the spaces between the digits.'),('HP:0008095','Osteolysis of talus','Osteolysis affecting the talus.'),('HP:0008096','Medially deviated second toe','Medial deviation of the second toe.'),('HP:0008097','Partial fusion of tarsals',''),('HP:0008102','Expanded metatarsals with widened medullary cavities',''),('HP:0008103','Delayed tarsal ossification','Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008107','Plantar crease between first and second toes','The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.'),('HP:0008108','Advanced tarsal ossification','Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008110','Equinovarus deformity',''),('HP:0008111','Broad distal hallux',''),('HP:0008112','Plantar flexion contractures',''),('HP:0008113','Multiple plantar creases',''),('HP:0008114','Metatarsal diaphyseal endosteal sclerosis','Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.'),('HP:0008115','Clinodactyly of the 3rd toe','Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).'),('HP:0008116','Flexion limitation of toes','Limitation of the ability to bend the toes.'),('HP:0008117','Shortening of the talar neck',''),('HP:0008119','Deformed tarsal bones',''),('HP:0008122','Calcaneonavicular fusion','Synostosis of the calcaneus with the navicular bone.'),('HP:0008124','Talipes calcaneovarus','A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.'),('HP:0008125','Second metatarsal posteriorly placed',''),('HP:0008127','Bipartite calcaneus','A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.'),('HP:0008131','Tarsal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.'),('HP:0008132','Medial rotation of the medial malleolus',''),('HP:0008133','Distal tapering of metatarsals',''),('HP:0008134','Irregular tarsal ossification','Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008138','Equinus calcaneus','Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.'),('HP:0008141','Dislocation of toes',''),('HP:0008142','Delayed calcaneal ossification','Delayed maturation and calcification of the calcaneus.'),('HP:0008144','Flattening of the talar dome',''),('HP:0008148','Impaired epinephrine-induced platelet aggregation','Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.'),('HP:0008150','Elevated serum transaminases during infections','Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.'),('HP:0008151','Prolonged prothrombin time','Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient`s prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.'),('HP:0008153','Periodic hypokalemic paresis','Episodes of muscle weakness associated with reduced levels of potassium in the blood.'),('HP:0008155','Mucopolysacchariduria','Excessive amounts of mucopolysaccharide in the urine.'),('HP:0008158','Hyperapobetalipoproteinemia','Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.'),('HP:0008160','3-hydroxydicarboxylic aciduria','An increase in the level of 3-hydroxydicarboxylic acid in the urine.'),('HP:0008161','Absent leukocyte alkaline phosphatase','Alkaline phosphatase levels measured within leukocytes is below detectable levels.'),('HP:0008162','Asymptomatic hyperammonemia','An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.'),('HP:0008163','Decreased circulating cortisol level','Abnormally reduced concentration of cortisol in the blood.'),('HP:0008165','Decreased helper T cell proportion','Reduced proportion of helper T cells relative to the total number of T cells.'),('HP:0008166','Decreased beta-galactosidase activity','Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.'),('HP:0008167','Very long chain fatty acid accumulation',''),('HP:0008169','Reduced factor VII activity','Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.'),('HP:0008176','Neonatal unconjugated hyperbilirubinemia',''),('HP:0008178','Abnormal cartilage matrix',''),('HP:0008179','Decreased Arden ratio of electrooculogram','An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.'),('HP:0008180','Mildly elevated creatine kinase',''),('HP:0008181','Abetalipoproteinemia','An absence of low-density lipoprotein cholesterol in the blood.'),('HP:0008182','Adrenocortical hypoplasia',''),('HP:0008185','Precocious puberty in males','The onset of puberty before the age of 9 years in boys.'),('HP:0008186','Adrenocortical cytomegaly','The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.'),('HP:0008187','Absence of secondary sex characteristics','No secondary sexual characteristics are present at puberty.'),('HP:0008188','Thyroid dysgenesis',''),('HP:0008189','Insulin insensitivity','Decreased sensitivity toward insulin.'),('HP:0008191','Thyroid agenesis','The congenital absence of the thyroid gland.'),('HP:0008193','Primary gonadal insufficiency',''),('HP:0008194','Multiple pancreatic beta-cell adenomas','The presence of multiple pancreatic islet cell adenomas.'),('HP:0008197','Absence of pubertal development',''),('HP:0008198','Congenital hypoparathyroidism','Deficiency of parathyroid hormone with congenital onset.'),('HP:0008200','Primary hyperparathyroidism','A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.'),('HP:0008202','Reduced circulating prolactin concentration','A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.'),('HP:0008204','Precocious puberty with Sertoli cell tumor',''),('HP:0008205','Insulin-dependent but ketosis-resistant diabetes','Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.'),('HP:0008207','Primary adrenal insufficiency','Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.'),('HP:0008208','Parathyroid hyperplasia','Hyperplasia of the parathyroid gland.'),('HP:0008209','Premature ovarian insufficiency','Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.'),('HP:0008211','Parathyroid agenesis','Aplasia of the parathyroid gland.'),('HP:0008213','Gonadotropin deficiency','A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).'),('HP:0008214','Decreased serum estradiol','A reduction below normal concentration of estradiol in the circulation.'),('HP:0008216','Adrenal gland dysgenesis','Abnormal development of the adrenal gland.'),('HP:0008221','Adrenal hyperplasia','Enlargement of the adrenal gland.'),('HP:0008222','Female infertility',''),('HP:0008223','Compensated hypothyroidism','Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).'),('HP:0008225','Thyroid follicular hyperplasia',''),('HP:0008226','Androgen insufficiency','Insufficient amount of androgenic activity.'),('HP:0008227','Pituitary resistance to thyroid hormone','A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.'),('HP:0008229','Thyroid lymphangiectasia','The presence of lymphangiectasis of the thyroid gland.'),('HP:0008230','obsolete Decreased testosterone in males',''),('HP:0008231','Macronodular adrenal hyperplasia',''),('HP:0008232','Elevated circulating follicle stimulating hormone level','An elevated concentration of follicle-stimulating hormone in the blood.'),('HP:0008233','Decreased circulating progesterone','An reduced concentration of progesterone in the blood.'),('HP:0008236','Isosexual precocious puberty',''),('HP:0008237','Hypothalamic hypothyroidism','A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.'),('HP:0008239','Adrenal medullary hypoplasia','Developmental hypoplasia of the adrenal medulla.'),('HP:0008240','Secondary growth hormone deficiency',''),('HP:0008242','Pseudohypoaldosteronism','A state of renal tubular unresponsiveness or resistance to the action of aldosterone.'),('HP:0008244','Congenital adrenal hypoplasia','A type of adrenal hypoplasia with congenital onset.'),('HP:0008245','Pituitary hypothyroidism','A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.'),('HP:0008247','Euthyroid hyperthyroxinemia','An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.'),('HP:0008249','Thyroid hyperplasia','Hyperplasia of the thyroid gland.'),('HP:0008250','Infantile hypercalcemia',''),('HP:0008251','Congenital goiter','An enlargement of the thyroid gland with congenital onset.'),('HP:0008255','Transient neonatal diabetes mellitus',''),('HP:0008256','Adrenocortical adenoma','Adrenocortical adenomas are benign tumors of the adrenal cortex.'),('HP:0008258','Congenital adrenal hyperplasia','A type of adrenal hyperplasia with congenital onset.'),('HP:0008259','Adrenocorticotropin receptor defect','Adrenal insufficiency secondary to a defect in the ACTH receptor.'),('HP:0008261','Pancreatic islet cell adenoma','The presence of an adenoma of the pancreas with origin in a pancreatic B cell.'),('HP:0008263','Thyroid defect in oxidation and organification of iodide',''),('HP:0008264','Neutrophil inclusion bodies','The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.'),('HP:0008265','Mitochondrial lysine transport defect',''),('HP:0008269','Increased red cell hemolysis by shear stress',''),('HP:0008271','Abnormal cartilage collagen','Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.'),('HP:0008272','Renal tubular lysine transport defect',''),('HP:0008273','Transient aminoaciduria',''),('HP:0008275','Abnormal light-adapted electroretinogram',''),('HP:0008277','Abnormal blood zinc concentration','An abnormality of zinc ion homeostasis.'),('HP:0008278','Cerebellar cortical atrophy','Atrophy (wasting) of the cerebellar cortex.'),('HP:0008279','Transient hyperlipidemia',''),('HP:0008281','Acute hyperammonemia','An increased concentration of ammonia in the blood with sudden onset.'),('HP:0008282','Unconjugated hyperbilirubinemia','An increased amount of unconjugated (indirect) bilurubin in the blood.'),('HP:0008283','Fasting hyperinsulinemia','An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.'),('HP:0008285','Transient hypophosphatemia',''),('HP:0008288','Nonketotic hyperglycinemia',''),('HP:0008290','Partial complement factor H deficiency','A partial reduction in level of the complement component Factor H in circulation.'),('HP:0008291','Pituitary corticotropic cell adenoma','A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).'),('HP:0008293','Long-chain dicarboxylic aciduria','An increase in the level of long-chain dicarboxylic acid in the urine.'),('HP:0008297','Transient hyperphenylalaninemia','A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).'),('HP:0008301','Dermatan sulfate excretion in urine','An increased concentration of dermatan sulfate in the urine.'),('HP:0008303','Olivary degeneration','Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.'),('HP:0008305','Exercise-induced myoglobinuria','Presence of myoglobin in the urine following exercise.'),('HP:0008306','Abnormal iron deposition in mitochondria',''),('HP:0008309','Medium chain dicarboxylic aciduria','An increase in the level of medium chain dicarboxylic acid in the urine.'),('HP:0008311','Spinal cord posterior columns myelin loss',''),('HP:0008314','Decreased activity of mitochondrial complex II','A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.'),('HP:0008315','Decreased plasma free carnitine','A decreased concentration of free (unbound) carnitine in the blood.'),('HP:0008316','Abnormal mitochondria in muscle tissue','An abnormality of the mitochondria in muscle tissue.'),('HP:0008318','Elevated leukocyte alkaline phosphatase','Increased alkaline phosphatase measured within leukocytes.'),('HP:0008320','Impaired collagen-induced platelet aggregation','Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.'),('HP:0008321','Reduced factor X activity','Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).'),('HP:0008322','Abnormal mitochondrial morphology','Any structural anomaly of the mitochondria.'),('HP:0008323','Abnormal light- and dark-adapted electroretinogram','An abnormality of the combined rod-and-cone response on electroretinogram.'),('HP:0008326','Reduced circulating vitamin B6 level','An abnormally decreased concentration of vitamin B6 in the blood circulation.'),('HP:0008327','Microscopic nephrocalcinosis','The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.'),('HP:0008330','Reduced von Willebrand factor activity','Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.'),('HP:0008331','Elevated creatine kinase after exercise',''),('HP:0008335','Renal aminoaciduria','An increased concentration of an amino acid in the urine, due to a decreased kidney functionality .'),('HP:0008336','Complex organic aciduria',''),('HP:0008338','Partial functional complement factor D deficiency','A partial reduction in level of the complement component Factor D in circulation.'),('HP:0008339','Diaminoaciduria',''),('HP:0008341','Distal renal tubular acidosis','A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.'),('HP:0008344','Elevated plasma branched chain amino acids','An increased concentration of a branched chain amino acid in the blood.'),('HP:0008345','Hypoplasia of the iris dilator muscle','Underdevelopment of the dilatator pupillae.'),('HP:0008346','Increased red cell sickling tendency',''),('HP:0008347','Decreased activity of mitochondrial complex IV','A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.'),('HP:0008348','Decreased circulating IgG2 level','A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.'),('HP:0008352','Impaired platelet adhesion','An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.'),('HP:0008353','Neutral hyperaminoaciduria','The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.'),('HP:0008354','Factor X activation deficiency','Reduced ability to transform factor X into its activated form factor Xa.'),('HP:0008356','obsolete Combined hyperlipidemia',''),('HP:0008357','Reduced factor XIII activity','Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.'),('HP:0008358','Hyperprolinemia','An increased concentration of proline in the blood.'),('HP:0008360','Neonatal hypoproteinemia','A neonatal decreased concentration of proteins in the blood.'),('HP:0008361','Corticospinal tract pallor',''),('HP:0008362','Aplasia/Hypoplasia of the hallux','Absence or underdevelopment of the big toe.'),('HP:0008363','Aplasia/Hypoplasia of the tarsal bones','Absence or underdevelopment of the tarsal bones.'),('HP:0008364','Abnormality of the calcaneus','An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.'),('HP:0008365','Abnormality of the talus','An abnormality of the talus.'),('HP:0008366','Contractures involving the joints of the feet',''),('HP:0008368','Tarsal synostosis','Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).'),('HP:0008369','Abnormal tarsal ossification','An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008371','Abnormal metatarsal ossification','Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.'),('HP:0008372','Abnormality of vitamin A metabolism',''),('HP:0008373','Puberty and gonadal disorders',''),('HP:0008376','Nasal, dysarthic speech',''),('HP:0008383','Slow-growing nails','Nails whose growth is slower than normal.'),('HP:0008386','Aplasia/Hypoplasia of the nails','Aplasia or developmental hypoplasia of the nail.'),('HP:0008388','Abnormal toenail morphology','An anomaly of the toenail.'),('HP:0008390','Recurrent loss of toenails and fingernails','Recurrent loss, or shedding, of the nails of the fingers and toes.'),('HP:0008391','Dystrophic fingernails','The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.'),('HP:0008392','Subungual hyperkeratosis','A thickening of the stratum corneum in the region beneath the nails.'),('HP:0008393','Congenital curved nail of fourth toe',''),('HP:0008394','Congenital onychodystrophy',''),('HP:0008396','Chronic monilial nail infection','Chronic infection of the nails by Candida species.'),('HP:0008398','Hypoplastic fifth fingernail','A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.'),('HP:0008399','Circumungual hyperkeratosis','A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.'),('HP:0008400','Onycholysis of distal fingernails','Detachment of the distal fingernails from the nail bed.'),('HP:0008401','Onychogryposis of toenails','Thickened toenails.'),('HP:0008402','Ridged fingernail','Longitudinal, linear prominences in the fingernail plate.'),('HP:0008404','Nail dystrophy','Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.'),('HP:0008407','Hyperconvex thumb nails',''),('HP:0008410','Subungual hyperkeratotic fragments',''),('HP:0008414','Lumbar kyphosis in infancy',''),('HP:0008416','Six lumbar vertebrae',''),('HP:0008417','Vertebral hypoplasia','Small, underdeveloped vertebral bodies.'),('HP:0008418','Squared-off platyspondyly',''),('HP:0008419','Intervertebral disc degeneration','The presence of degenerative changes of intervertebral disk.'),('HP:0008420','Punctate vertebral calcifications','The presence of punctiform calcification of the bone of the vertebral bodies.'),('HP:0008421','Tall lumbar vertebral bodies',''),('HP:0008422','Vertebral wedging','An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.'),('HP:0008423','Spinal dysplasia','The presence of developmental dysplasia of the vertebral column.'),('HP:0008424','Hypoplastic 5th lumbar vertebrae',''),('HP:0008425','Cuboid-shaped thoracolumbar vertebral bodies',''),('HP:0008428','Vertebral clefting','Schisis (cleft or cleavage) of vertebral bodies.'),('HP:0008430','Anterior beaking of lumbar vertebrae','Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.'),('HP:0008432','Anterior wedging of L1','An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).'),('HP:0008433','Reversed usual vertebral column curves',''),('HP:0008434','Hypoplastic cervical vertebrae',''),('HP:0008435','Absent in utero ossification of vertebral bodies',''),('HP:0008436','Absent/hypoplastic coccyx',''),('HP:0008437','Bifid thoracic vertebrae',''),('HP:0008438','Vertebral arch anomaly','A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.'),('HP:0008439','Lumbar hemivertebrae','Absence of one half of the vertebral body in the lumbar spine.'),('HP:0008440','C1-C2 vertebral abnormality','Any abnormality of the atlas and the axis.'),('HP:0008441','Herniation of intervertebral nuclei','The presence of one or more herniated nucleus pulposus of intervertebral disk.'),('HP:0008442','Vertebral hyperostosis','Excessive growth of the bones of the vertebral bodies.'),('HP:0008443','Spinal deformities',''),('HP:0008444','Posterior wedging of vertebral bodies','An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).'),('HP:0008445','Cervical spinal canal stenosis','An abnormal narrowing of the cervical spinal canal.'),('HP:0008447','Hypoplastic coccygeal vertebrae',''),('HP:0008449','Progressive cervical vertebral spine fusion',''),('HP:0008450','Narrow vertebral interpedicular distance','A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.'),('HP:0008451','Posterior vertebral hypoplasia',''),('HP:0008452','Wafer-thin platyspondyly',''),('HP:0008453','Congenital kyphoscoliosis',''),('HP:0008454','Lumbar kyphosis','Over curvature of the lumbar region.'),('HP:0008455','Dysplastic sacrum','A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.'),('HP:0008456','C2-C3 subluxation','A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.'),('HP:0008457','Caudal interpedicular narrowing','Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.'),('HP:0008458','Progressive congenital scoliosis','A progressive form of scoliosis with congenital onset.'),('HP:0008459','Cervical vertebral agenesis','Agenesis of one or more vertebrae of the cervical vertebral column.'),('HP:0008460','Hypoplastic spinal processes',''),('HP:0008461','Cervical vertebral facet hypoplasia',''),('HP:0008462','Cervical instability',''),('HP:0008463','Central vertebral hypoplasia',''),('HP:0008464','Absent spinous processes of lower thoracic and lumbar vertebrae',''),('HP:0008465','Absent vertebra','A developmental defect characterized by agenesis of one or more vertebral bodies.'),('HP:0008467','Thoracic hemivertebrae','Absence of one half of the vertebral body in the thoracic spine.'),('HP:0008468','Abnormal sacral segmentation','An abnormality related to a defect of vertebral separation of sacral vertebrae during development.'),('HP:0008469','Cervical vertebral dysplasia','Dysplasia of the cervical vertebral column.'),('HP:0008470','Lower thoracic interpediculate narrowness','A reduction of the distance between the lower thoracic vertebral pedicles.'),('HP:0008472','Prominent protruding coccyx',''),('HP:0008473','Narrow anterio-posterior vertebral body diameter','An abnormal reduction of the anterioposterior diameter of the vertebral body.'),('HP:0008475','Hypoplastic sacral vertebrae',''),('HP:0008476','Irregular sclerotic endplates',''),('HP:0008477','Poorly ossified cervical vertebrae','Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.'),('HP:0008478','Scheuermann-like vertebral changes',''),('HP:0008479','Hypoplastic vertebral bodies',''),('HP:0008480','Cervical spondylosis','The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.'),('HP:0008482','Asymmetry of spinal facet joints',''),('HP:0008483','Cervical vertebral bodies with decreased anteroposterior diameter',''),('HP:0008484','Thoracolumbar interpediculate narrowness','A reduction of the distance between thoracolumbar vertebral pedicles.'),('HP:0008486','Lumbar interpedicular narrowing','Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.'),('HP:0008488','Anterior rounding of vertebral bodies',''),('HP:0008489','Spondylolisthesis at L5-S1','Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).'),('HP:0008490','Sacral segmentation defect',''),('HP:0008491','Premature anterior fontanel closure','Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.'),('HP:0008494','Inferior lens subluxation','Partial displacement of the lens in the inferior direction.'),('HP:0008496','Multiple rows of eyelashes',''),('HP:0008497','Congenital craniofacial dysostosis',''),('HP:0008498','No permanent dentition',''),('HP:0008499','High hypermetropia','A severe form of hypermetropia with over +5.00 diopters.'),('HP:0008501','Median cleft lip and palate','Cleft lip or palate affecting the midline region of the palate.'),('HP:0008504','Moderate sensorineural hearing impairment','The presence of a moderate form of sensorineural hearing impairment.'),('HP:0008507','Static ophthalmoparesis',''),('HP:0008509','Aged leonine appearance',''),('HP:0008511','Central posterior corneal opacity','Reduced transparency of the central posterior portion of the corneal stroma.'),('HP:0008513','Bilateral conductive hearing impairment','A bilateral type of conductive hearing impairment.'),('HP:0008515','Aplasia/Hypoplasia of the vertebrae',''),('HP:0008516','Abnormality of the vertebral spinous processes',''),('HP:0008517','Aplasia/Hypoplasia of the sacrum','Aplasia or developmental hypoplasia of the sacral bone.'),('HP:0008518','Aplasia/Hypoplasia involving the vertebral column',''),('HP:0008519','Abnormality of the coccyx','An abnormality of the coccyx.'),('HP:0008523','Posterior helix pit','Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.'),('HP:0008527','Congenital sensorineural hearing impairment','A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.'),('HP:0008528','Long hairs growing from helix of pinna',''),('HP:0008529','Absence of acoustic reflex','Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.'),('HP:0008537','Cleft at the superior portion of the pinna',''),('HP:0008541','Superiorly displaced ears',''),('HP:0008542','Low-frequency hearing loss','A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).'),('HP:0008544','Abnormally folded helix',''),('HP:0008551','Microtia','Underdevelopment of the external ear.'),('HP:0008554','Cochlear malformation','The presence of a malformed cochlea.'),('HP:0008555','Absent vestibular function','Complete lack of functioning of the vestibular apparatus.'),('HP:0008559','Hypoplastic superior helix',''),('HP:0008568','Vestibular areflexia','Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.'),('HP:0008569','Microtia, second degree','Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.'),('HP:0008572','External ear malformation','A malformation of the auricle of the ear.'),('HP:0008573','Low-frequency sensorineural hearing impairment','A form of sensorineural hearing impairment that affects primarily the lower frequencies.'),('HP:0008577','Underfolded helix','Underdevelopment of the helix that either affects the entire helix, or is localized.'),('HP:0008583','Underfolded superior helices','A condition in which the superior portion of the helix is folded over to a lesser degree than normal.'),('HP:0008586','Hypoplasia of the cochlea','Developmental hypoplasia of the cochlea.'),('HP:0008587','Mild neurosensory hearing impairment','The presence of a mild form of sensorineural hearing impairment.'),('HP:0008588','Slit-like opening of the exterior auditory meatus','A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.'),('HP:0008589','Hypoplastic helices','Underdevelopment of the helix, i.e., of the outer rim of the pinna.'),('HP:0008591','Congenital conductive hearing impairment','A type of conductive deafness with congenital onset.'),('HP:0008593','Prominent antitragus','Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.'),('HP:0008596','Postlingual sensorineural hearing impairment','A form of sensorineural hearing impairment with onset after the acquisition of speech.'),('HP:0008598','Mild conductive hearing impairment','A mild form of conductive hearing impairment.'),('HP:0008605','Unilateral external ear deformity',''),('HP:0008606','Supraauricular pit','Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.'),('HP:0008607','Progressive conductive hearing impairment','A progressive type of conductive deafness.'),('HP:0008608','Hypertrophic auricular cartilage',''),('HP:0008609','Morphological abnormality of the middle ear','An abnormality of the morphology or structure of the middle ear.'),('HP:0008610','Infantile sensorineural hearing impairment','A form of sensorineural hearing impairment with infantile onset.'),('HP:0008615','Adult onset sensorineural hearing impairment','The presence of sensorineural deafness with late onset.'),('HP:0008619','Bilateral sensorineural hearing impairment','A bilateral form of sensorineural hearing impairment.'),('HP:0008625','Severe sensorineural hearing impairment','A severe form of sensorineural hearing impairment.'),('HP:0008628','Abnormality of the stapes','An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.'),('HP:0008629','Pulsatile tinnitus','Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus.'),('HP:0008631','Ureteral dysgenesis','A developmental anomaly of the ureter.'),('HP:0008633','Agonadism','Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).'),('HP:0008635','Hypertrophy of the urinary bladder','Abnormal enlargement of the urinary bladder.'),('HP:0008636','Lobular glomerulopathy',''),('HP:0008639','Gonadal hypoplasia',''),('HP:0008640','Congenital macroorchidism',''),('HP:0008643','Nephroblastomatosis','Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.'),('HP:0008647','Pubertal developmental failure in females',''),('HP:0008648','Anteriorly displaced urethral meatus',''),('HP:0008651','Uric acid urolithiasis independent of gout',''),('HP:0008652','Autonomic erectile dysfunction','Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.'),('HP:0008653','Crescentic glomerulonephritis','A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.'),('HP:0008655','Aplasia/Hypoplasia of the fallopian tube','Aplasia or developmental hypoplasia of the fallopian tube.'),('HP:0008656','Incomplete male pseudohermaphroditism',''),('HP:0008659','Multiple small medullary renal cysts','The presence of many cysts in the medulla of the kidney.'),('HP:0008660','Renotubular dysgenesis','A developmental defect characterized by absence or poor development of proximal renal tubules.'),('HP:0008661','Urethral stenosis','Abnormal narrowing of the urethra.'),('HP:0008663','Renal sarcoma','A sarcoma of the kidney.'),('HP:0008664','Urethral sphincter sclerosis',''),('HP:0008665','Clitoral hypertrophy','Hypertrophy of the clitoris.'),('HP:0008666','Impaired histidine renal tubular absorption',''),('HP:0008668','Gonadal dysgenesis, male','Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.'),('HP:0008669','Abnormal spermatogenesis','Incomplete maturation or aberrant formation of the male gametes.'),('HP:0008670','Partial vaginal septum',''),('HP:0008672','Calcium oxalate nephrolithiasis','The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.'),('HP:0008675','Enlarged polycystic ovaries',''),('HP:0008676','Congenital megaureter','A developmental disturbance with extreme ureteral dilatation.'),('HP:0008677','Congenital nephrotic syndrome','Nephrotic syndrome with onset within the first three months of life.'),('HP:0008678','Renal hypoplasia/aplasia','Absence or underdevelopment of the kidney.'),('HP:0008682','Renal tubular epithelial necrosis','Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).'),('HP:0008683','Enlarged labia minora','Increase in size of the folds of skin between the outer labia.'),('HP:0008684','Aplasia/hypoplasia of the uterus','Absence or developmental hypoplasia of the uterus.'),('HP:0008687','Hypoplasia of the prostate',''),('HP:0008689','Bilateral cryptorchidism','Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.'),('HP:0008691','Solitary bladder diverticulum','Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.'),('HP:0008694','obsolete Hypertrophic labia minora',''),('HP:0008695','Transient nephrotic syndrome',''),('HP:0008696','Renal hamartoma','A disordered proliferation of mature tissues that are native to the kidneys.'),('HP:0008697','Hypoplasia of the fallopian tube','Developmental hypoplasia of the fallopian tube.'),('HP:0008702','Absent internal genitalia',''),('HP:0008703','Gonadal calcification','Deposition of calcium salts in gonadal tissue.'),('HP:0008705','Ureteral triplication',''),('HP:0008706','Distal urethral duplication',''),('HP:0008707','Absent scrotum','Congenital absence of the scrotum.'),('HP:0008708','Partial development of the penile shaft',''),('HP:0008711','Benign prostatic hyperplasia','The presence of non-malignant hyperplasia of the prostate.'),('HP:0008714','Ureterovesical stenosis',''),('HP:0008715','Testicular dysgenesis',''),('HP:0008716','Urethrovaginal fistula','The presence of a fistula between the vagina and the urethra.'),('HP:0008717','Unilateral renal atrophy','A unilateral form of atrophy of the kidney.'),('HP:0008718','Unilateral renal dysplasia','A unilateral form of developmental dysplasia of the kidney.'),('HP:0008720','Primary testicular failure',''),('HP:0008722','Urethral diverticulum','The presence of a diverticulum (sac or pouch) in the wall of the urethra.'),('HP:0008723','Gonadal dysgenesis with female appearance, male','Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.'),('HP:0008724','Hypoplasia of the ovary','Developmental hypoplasia of the ovary.'),('HP:0008726','Hypoplasia of the vagina','Developmental hypoplasia of the vagina.'),('HP:0008729','Absence of labia majora',''),('HP:0008730','Female external genitalia in individual with 46,XY karyotype','The presence of female external genitalia in a person with a male karyotype.'),('HP:0008732','Renal hypophosphatemia','Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.'),('HP:0008733','Dysplastic testes',''),('HP:0008734','Decreased testicular size','Reduced volume of the testicle (the male gonad).'),('HP:0008736','Hypoplasia of penis',''),('HP:0008738','Partially duplicated kidney','The presence of a partially duplicated kidney.'),('HP:0008739','Labial pseudohypertrophy',''),('HP:0008740','Longitudinal vaginal septum','The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.'),('HP:0008742','Prominent prostate median bar',''),('HP:0008743','Coronal hypospadias','A mild form of hypospadias in which the urethra opens just under the corona glandis.'),('HP:0008744','Abnormal aryepiglottic fold morphology','An abnormality of the aryepiglottic fold.'),('HP:0008747','Cartilaginous ossification of larynx','Ossification affecting the set of cartilages of larynx.'),('HP:0008749','Laryngeal hypoplasia','Underdevelopment of the larynx.'),('HP:0008750','Laryngeal atresia','Congenital absence of the lumen of the larynx.'),('HP:0008751','Laryngeal cleft','Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.'),('HP:0008752','Laryngeal cartilage malformation','A malformation of the laryngeal cartilage.'),('HP:0008753','Aplasia of the epiglottis','Absence of the epiglottis.'),('HP:0008754','Laryngeal calcification','Calcification (abnormal deposits of calcium) in the laryngeal tissues.'),('HP:0008755','Laryngotracheomalacia',''),('HP:0008756','Bowing of the vocal cords','Bowing (abnormal curvature) of the vocal folds.'),('HP:0008757','Unilateral vocal cord paralysis','A loss of the ability to move the vocal fold on one side.'),('HP:0008760','Violent behavior',''),('HP:0008762','Repetitive compulsive behavior',''),('HP:0008763','No social interaction',''),('HP:0008765','Auditory hallucinations',''),('HP:0008767','Self-mutilation of tongue and lips due to involuntary movements',''),('HP:0008768','Inappropriate sexual behavior',''),('HP:0008770','Obsessive-compulsive trait','The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.'),('HP:0008771','Aplasia/Hypoplasia of the ear','The presence of aplasia or developmental hypoplasia of the ear.'),('HP:0008772','Aplasia/Hypoplasia of the external ear','The presence of aplasia or developmental hypoplasia of all or part of the external ear.'),('HP:0008773','Aplasia/Hypoplasia of the middle ear','Aplasia or developmental hypoplasia of all or part of the middle ear.'),('HP:0008774','Aplasia/Hypoplasia of the inner ear','Aplasia or developmental hypoplasia of the inner ear.'),('HP:0008775','Abnormal prostate morphology','An abnormality of the prostate.'),('HP:0008776','Abnormal renal artery morphology','Any structural abnormality of the renal artery.'),('HP:0008777','Abnormal vocal cord morphology','An abnormality of the vocal cord.'),('HP:0008780','Congenital bilateral hip dislocation',''),('HP:0008783','Wide proximal femoral metaphysis','Increased width of the proximal part of the shaft (metaphysis) of the femur.'),('HP:0008784','Wide capital femoral epiphyses','Abnormally wide morphology of the proximal epiphysis of the femur.'),('HP:0008785','Delayed ossification of pubic rami','Delayed maturation and calcification of the rami (branches) of the pubic bone.'),('HP:0008786','Iliac crest serration','Irregularities of the iliac crest that produce the appearance of a lace border around it.'),('HP:0008788','Delayed pubic bone ossification','Delayed maturation and calcification of the pubic bone.'),('HP:0008789','Cone-shaped capital femoral epiphysis','A cone-shaped deformity of the proximal epiphysis of the femur.'),('HP:0008794','Dysplastic iliac wings',''),('HP:0008796','Externally rotated hips',''),('HP:0008797','Early ossification of capital femoral epiphyses','Developmental acceleration of ossification of the proximal epiphysis of the femur.'),('HP:0008798','Widened greater sciatic notch','The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.'),('HP:0008800','Limited hip movement','A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.'),('HP:0008801','Hypoplasia of the lesser trochanter','Underdevelopment of the lesser trochanter.'),('HP:0008802','Hypoplasia of the femoral head','Underdevelopment of the femoral head.'),('HP:0008803','obsolete Narrow sacroiliac notch',''),('HP:0008804','Broad femoral head','Increased width of the femoral head.'),('HP:0008807','Acetabular dysplasia','The presence of developmental dysplasia of the acetabular part of hip bone.'),('HP:0008808','High iliac wings','Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).'),('HP:0008812','Flattened femoral head','An abnormally flattened femoral head.'),('HP:0008817','Aplastic pubic bones',''),('HP:0008818','Large iliac wings','Increased size of the ilium ala.'),('HP:0008819','Narrow femoral neck','An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0008820','Absent ossification of capital femoral epiphysis','Lack of ossification of the proximal epiphysis of the femur.'),('HP:0008821','Hypoplastic inferior ilia',''),('HP:0008822','Hypoplastic ischiopubic rami','Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.'),('HP:0008823','Hypoplastic inferior pubic rami',''),('HP:0008824','Hypoplastic iliac body','Underdevelopment of the body of ilium.'),('HP:0008826','Dislocation of the femoral head','Joint dislocation of the femoral head.'),('HP:0008828','Delayed proximal femoral epiphyseal ossification','Developmental delay of ossification of the proximal epiphysis of the femur.'),('HP:0008829','Delayed femoral head ossification','Delayed ossification of the femoral head.'),('HP:0008830','Hypoplastic pubic rami',''),('HP:0008833','Irregular acetabular roof',''),('HP:0008835','Multicentric femoral head ossification','There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.'),('HP:0008838','Stippled calcification proximal humeral epiphyses',''),('HP:0008839','Hypoplastic pelvis','Underdevelopment of the bony pelvis.'),('HP:0008843','Hip osteoarthritis',''),('HP:0008845','Mesomelic short stature','A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).'),('HP:0008846','Severe intrauterine growth retardation','Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.'),('HP:0008848','Moderately short stature','A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.'),('HP:0008850','Severe postnatal growth retardation','Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.'),('HP:0008855','Moderate postnatal growth retardation','A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.'),('HP:0008857','Neonatal short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.'),('HP:0008866','Failure to thrive secondary to recurrent infections','Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.'),('HP:0008872','Feeding difficulties in infancy','Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.'),('HP:0008873','Disproportionate short-limb short stature','A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.'),('HP:0008883','Mild intrauterine growth retardation','Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.'),('HP:0008887','Adipose tissue loss','A loss of adipose tissue.'),('HP:0008890','Severe short-limb dwarfism',''),('HP:0008897','Postnatal growth retardation','Slow or limited growth after birth.'),('HP:0008905','Rhizomelia','Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).'),('HP:0008909','Lethal short-limbed short stature',''),('HP:0008915','Childhood-onset truncal obesity','Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.'),('HP:0008921','Neonatal short-limb short stature','A type of short-limbed dwarfism that is manifest beginning in the neonatal period.'),('HP:0008922','Childhood-onset short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.'),('HP:0008929','Asymmetric short stature',''),('HP:0008935','Generalized neonatal hypotonia','Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.'),('HP:0008936','Muscular hypotonia of the trunk','Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.'),('HP:0008940','Generalized lymphadenopathy','A generalized form of lymphadenopathy.'),('HP:0008942','Acute rhabdomyolysis','An acute form of rhabdomyolysis.'),('HP:0008944','Distal lower limb amyotrophy','Muscular atrophy of distal leg muscles.'),('HP:0008945','Loss of ability to walk in early childhood',''),('HP:0008946','Pelvic girdle amyotrophy','Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.'),('HP:0008947','Infantile muscular hypotonia','Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.'),('HP:0008948','Proximal upper limb amyotrophy','Muscular atrophy affecting proximally located muscles of the arms.'),('HP:0008952','Shoulder muscle hypoplasia','Underdevelopment of muscles of the shoulder.'),('HP:0008953','Pectoralis major hypoplasia','Underdevelopment of the pectoralis major.'),('HP:0008954','Intrinsic hand muscle atrophy','Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.'),('HP:0008955','Progressive distal muscular atrophy','Progressive muscular atrophy affecting muscles in the distal portions of the extremities.'),('HP:0008956','Proximal lower limb amyotrophy','Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.'),('HP:0008959','Distal upper limb muscle weakness','Reduced strength of the distal musculature of the arms.'),('HP:0008962','Calf muscle hypoplasia','Underdevelopment of the muscuklature of the calf.'),('HP:0008963','Tibialis muscle weakness','Muscle weakness affecting the tibialis anterior muscle.'),('HP:0008964','Nonprogressive muscular atrophy','Muscular atrophy that does not display a progression in severity with time.'),('HP:0008967','Exercise-induced muscle stiffness','A type of muscle stiffness that occurs following physical exertion.'),('HP:0008968','Muscle hypertrophy of the lower extremities','Muscle hypertrophy primarily affecting the legs.'),('HP:0008969','Leg muscle stiffness',''),('HP:0008970','Scapulohumeral muscular dystrophy',''),('HP:0008972','Decreased activity of mitochondrial respiratory chain','Decreased activity of the mitochondrial respiratory chain.'),('HP:0008978','Necrotizing myopathy',''),('HP:0008981','Calf muscle hypertrophy','Muscle hypertrophy affecting the calf muscles.'),('HP:0008984','Neck muscle hypoplasia','Underdevelopment of muscles of the neck.'),('HP:0008985','Increased intramuscular fat','An abnormal increase in the amount of intramuscular fat tissue.'),('HP:0008986','Agenesis of the diaphragm','Congenital lack, i.e., aplasia of the diaphragm.'),('HP:0008988','Pelvic girdle muscle atrophy','Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).'),('HP:0008991','Exercise-induced leg cramps','Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.'),('HP:0008993','Increased intraabdominal fat','An abnormal increase in the amount of intraabdominal fat tissue.'),('HP:0008994','Proximal muscle weakness in lower limbs','A lack of strength of the proximal muscles of the legs.'),('HP:0008997','Proximal muscle weakness in upper limbs','A lack of strength of the proximal muscles of the arms.'),('HP:0008998','Pectoralis hypoplasia','Underdevelopment of the pectoral muscle.'),('HP:0009002','Loss of truncal subcutaneous adipose tissue','Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.'),('HP:0009003','Increased subcutaneous truncal adipose tissue','The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.'),('HP:0009004','Hypoplasia of the musculature','Underdevelopment of the musculature.'),('HP:0009005','Weakness of the intrinsic hand muscles',''),('HP:0009007','Biceps hypoplasia','Underdevelopment of the biceps muscle.'),('HP:0009011','Hypoplasia of serratus anterior muscle','Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.'),('HP:0009013','Congenital absence of gluteal muscles',''),('HP:0009016','Upper limb muscle hypoplasia','Underdevelopment of muscles of the arm.'),('HP:0009017','Loss of gluteal subcutaneous adipose tissue','Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.'),('HP:0009019','Progressive loss of facial adipose tissue',''),('HP:0009020','Exercise-induced muscle fatigue','An abnormally increased tendency towards muscle fatigue induced by physical exercise.'),('HP:0009023','Abdominal wall muscle weakness','Decreased strength of the abdominal musculature.'),('HP:0009025','Increased connective tissue','The presence of an abnormally increased amount of connective tissue.'),('HP:0009026','Hypoplasia of latissimus dorsi muscle','Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.'),('HP:0009027','Foot dorsiflexor weakness','Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.'),('HP:0009028','Generalized weakness of limb muscles','Generalized weakness of the muscles of the arms and legs.'),('HP:0009031','Amyotrophy of ankle musculature','Atrophy of the muscles of the ankle.'),('HP:0009037','Segmental spinal muscular atrophy',''),('HP:0009042','Marked muscular hypertrophy','Severe hypertrophy (increase in size) of muscle cells.'),('HP:0009044','obsolete Hypoplasia of deltoid muscle',''),('HP:0009045','Exercise-induced rhabdomyolysis','Rhabdomyolysis induced by exercise.'),('HP:0009046','Difficulty running','Reduced ability to run.'),('HP:0009049','Peroneal muscle atrophy','Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).'),('HP:0009050','Quadriceps muscle atrophy','Muscular atrophy involving the quadriceps muscle.'),('HP:0009051','Increased muscle glycogen content','An increased amount of glycogen in muscle tissue.'),('HP:0009053','Distal lower limb muscle weakness','Reduced strength of the distal musculature of the legs.'),('HP:0009054','Scapuloperoneal myopathy',''),('HP:0009055','Generalized limb muscle atrophy','Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.'),('HP:0009056','Loss of subcutaneous adipose tissue from upper limbs',''),('HP:0009058','Increased muscle lipid content','An abnormal accumulation of lipids in skeletal muscle.'),('HP:0009059','Congenital generalized lipodystrophy',''),('HP:0009060','Scapular muscle atrophy','Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.'),('HP:0009062','Infantile axial hypotonia','Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.'),('HP:0009063','Progressive distal muscle weakness','Progressively reduced strength of the distal musculature.'),('HP:0009064','Generalized lipodystrophy','Generalized degenerative changes of the fat tissue.'),('HP:0009067','Progressive spinal muscular atrophy','Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.'),('HP:0009069','Lethal infantile mitochondrial myopathy',''),('HP:0009071','Inflammatory myopathy','Chronic muscle inflammation accompanied by muscle weakness.'),('HP:0009072','Decreased Achilles reflex','Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.'),('HP:0009073','Progressive proximal muscle weakness','Lack of strength of the proximal muscles that becomes progressively more severe.'),('HP:0009077','Weakness of long finger extensor muscles',''),('HP:0009084','Midline notch of upper alveolar ridge',''),('HP:0009085','Alveolar ridge overgrowth','Increased width of the alveolar ridges.'),('HP:0009087','Posteriorly placed tongue',''),('HP:0009088','Speech articulation difficulties','Impairment in the physical production of speech sounds.'),('HP:0009090','obsolete Facial diplegic appearance',''),('HP:0009092','Progressive alveolar ridge hypertropy',''),('HP:0009094','Cleft lower alveolar ridge',''),('HP:0009098','Chronic oral candidiasis','Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.'),('HP:0009099','Median cleft palate','Cleft palate of the midline of the palate.'),('HP:0009100','Thick anterior alveolar ridges',''),('HP:0009101','Submucous cleft lip','A cleft of the lip with overlying mucous membrane.'),('HP:0009102','Anterior open-bite malocclusion','A type of malocclusion in which there is a gap between the anterior teeth (incisors).'),('HP:0009103','Aplasia/Hypoplasia involving the pelvis',''),('HP:0009104','Aplasia/Hypoplasia of the pubic bone','Absence or underdevelopment of the pubic bone.'),('HP:0009105','Abnormal ossification of the pubic bone','Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.'),('HP:0009106','Abnormal pelvis bone ossification','An abnormality of the formation and mineralization of any bone of the bony pelvis.'),('HP:0009107','Abnormal ossification involving the femoral head and neck',''),('HP:0009108','Aplasia/Hypoplasia involving the femoral head and neck',''),('HP:0009109','Denervation of the diaphragm','Interruption of the innervation of the diaphragm.'),('HP:0009110','Diaphragmatic eventration','A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.'),('HP:0009112','Aplasia of the left hemidiaphragm','Congenital absence of the left half of the diaphragm.'),('HP:0009113','Diaphragmatic weakness','A decrease in the strength of the diaphragm.'),('HP:0009115','Aplasia/hypoplasia involving the skeleton','Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.'),('HP:0009116','Aplasia/Hypoplasia involving bones of the skull',''),('HP:0009117','Aplasia/Hypoplasia of the maxilla','Absence or underdevelopment of the maxilla.'),('HP:0009118','Aplasia/Hypoplasia of the mandible','Absence or underdevelopment of the mandible.'),('HP:0009119','Aplasia/Hypoplasia of the frontal sinuses','Absence or underdevelopment of frontal sinus.'),('HP:0009120','Aplasia/Hypoplasia involving the sinuses','Absence or underdevelopment of a cranial sinus or sinuses.'),('HP:0009121','Abnormal axial skeleton morphology','An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.'),('HP:0009122','Aplasia/hypoplasia affecting bones of the axial skeleton','Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.'),('HP:0009123','Mixed hypo- and hyperpigmentation of the skin',''),('HP:0009124','Abnormal adipose tissue morphology','An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.'),('HP:0009125','Lipodystrophy','Degenerative changes of the fat tissue.'),('HP:0009126','Increased adipose tissue','An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).'),('HP:0009127','Abnormality of the musculature of the limbs',''),('HP:0009128','Aplasia/Hypoplasia involving the musculature of the extremities',''),('HP:0009129','Upper limb amyotrophy','Muscular atrophy involving the muscles of the upper limbs.'),('HP:0009130','Hand muscle atrophy','Muscular atrophy involving the muscles of the hand.'),('HP:0009131','Abnormality of the musculature of the thorax','A disease or lesion affecting the muscles of the thorax.'),('HP:0009132','Abnormal tarsal bone mineral density','This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.'),('HP:0009134','Osteolysis involving bones of the feet',''),('HP:0009136','Duplication involving bones of the feet',''),('HP:0009138','Synostosis involving bones of the lower limbs','An abnormal union between bones or parts of bones lower limbs.'),('HP:0009139','Osteolysis involving bones of the lower limbs',''),('HP:0009140','Synostosis involving bones of the feet',''),('HP:0009141','Depletion of mitochondrial DNA in muscle tissue',''),('HP:0009142','Duplication of bones involving the upper extremities',''),('HP:0009144','Supernumerary bones of the axial skeleton',''),('HP:0009145','Abnormal cerebral artery morphology','Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.'),('HP:0009147','Enlarged epiphysis of the distal phalanx of the 5th finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009148','Small epiphysis of the distal phalanx of the 5th finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009149','Triangular epiphysis of the distal phalanx of the 5th finger','A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009150','Abnormality of the proximal phalanx of the 5th finger','Abnormality of the proximal phalanx of the little (5th) finger.'),('HP:0009152','Abnormality of the epiphyses of the 5th finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.'),('HP:0009153','Abnormality of the epiphysis of the proximal phalanx of the 5th finger','Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.'),('HP:0009154','Triangular epiphysis of the proximal phalanx of the 5th finger','A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009155','Cone-shaped epiphysis of the proximal phalanx of the 5th finger','A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009157','Ivory epiphysis of the proximal phalanx of the 5th finger','Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009158','Enlarged epiphysis of the proximal phalanx of the 5th finger','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009159','Small epiphysis of the proximal phalanx of the 5th finger','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009160','Absent epiphysis of the proximal phalanx of the 5th finger','Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.'),('HP:0009161','Aplasia/Hypoplasia of the middle phalanx of the 5th finger','Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.'),('HP:0009162','Absent middle phalanx of 5th finger','Absence of the middle phalanx of the little (5th) finger.'),('HP:0009163','obsolete Abnormal form of the 5th finger',''),('HP:0009164','Abnormal calcification of the carpal bones',''),('HP:0009165','Stippling of the epiphysis of the distal phalanx of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.'),('HP:0009166','Fragmentation of the epiphysis of the distal phalanx of the 5th finger','Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.'),('HP:0009167','Irregular epiphysis of the distal phalanx of the 5th finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.'),('HP:0009168','Bullet-shaped middle phalanx of the 5th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.'),('HP:0009169','Broad middle phalanx of the 5th finger','Increased width of the middle phalanx of the 5th finger.'),('HP:0009170','Osteolytic defects of the middle phalanx of the 5th finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.'),('HP:0009171','Triangular epiphyses of the metacarpals','A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.'),('HP:0009172','Abnormal 4th finger phalanx morphology','Abnormality of the phalanges of the 4th (ring) finger.'),('HP:0009173','Curved middle phalanx of the 5th finger','Curved appearance of the middle phalanx of the 5th finger.'),('HP:0009174','Abnormality of the epiphyses of the 4th finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.'),('HP:0009175','Patchy sclerosis of the middle phalanx of the 5th finger','Patchy increase in bone density of the middle phalanx of the 5th finger.'),('HP:0009177','Proximal/middle symphalangism of 5th finger','Fusion of the proximal and middle phalanges of the 5th finger.'),('HP:0009178','Symphalangism of middle phalanx of 5th finger','Fusion of the middle phalanx of the 5th finger with another bone.'),('HP:0009179','Deviation of the 5th finger','Displacement of the 5th finger from its normal position.'),('HP:0009180','Ulnar deviation of the 5th finger','Displacement of the 5th finger towards the ulnar side.'),('HP:0009182','Triangular shaped middle phalanx of the 5th finger','Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009183','Joint contracture of the 5th finger','Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009184','Contracture of the distal interphalangeal joint of the 5th finger','Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.'),('HP:0009185','Contracture of the proximal interphalangeal joint of the 5th finger','Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0009186','Contracture of the metacarpophalangeal joint of the 5th finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.'),('HP:0009187','Bracket epiphysis of the distal phalanx of the 5th finger','An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009188','Pseudoepiphysis of the distal phalanx of the 5th finger','A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009189','Fragmentation of the metacarpal epiphyses','Fragmented appearance of the epiphyses of the metacarpals.'),('HP:0009190','Irregular epiphyses of the metacarpals','Irregular radiographic opacity of the epiphyses of the metacarpals.'),('HP:0009191','Ivory epiphyses of the metacarpals','Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009192','Aplasia/Hypoplasia of the proximal phalanx of the 5th finger','Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.'),('HP:0009193','Pseudoepiphyses of the metacarpals','A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.'),('HP:0009194','Small epiphyses of the metacarpals','Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.'),('HP:0009195','Epiphyseal stippling of the metacarpals','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.'),('HP:0009196','Absent metacarpal epiphyses','Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.'),('HP:0009197','Bracket epiphysis of the proximal phalanx of the 5th finger','An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009198','Abnormality of the epiphysis of the distal phalanx of the 5th finger','Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.'),('HP:0009199','Irregular epiphysis of the proximal phalanx of the 5th finger','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.'),('HP:0009200','Pseudoepiphysis of the proximal phalanx of the 5th finger','A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009201','Stippling of the epiphysis of the proximal phalanx of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.'),('HP:0009202','Fragmentation of the epiphysis of the proximal phalanx of the 5th finger','Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.'),('HP:0009203','Absent epiphysis of the middle phalanx of the 5th finger','Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.'),('HP:0009204','Bracket epiphysis of the middle phalanx of the 5th finger','An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009205','Cone-shaped epiphysis of the middle phalanx of the 5th finger','A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009206','Enlarged epiphysis of the middle phalanx of the 5th finger','Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009207','Fragmentation of the epiphysis of the middle phalanx of the 5th finger','Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.'),('HP:0009208','Irregular epiphysis of the middle phalanx of the 5th finger','Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.'),('HP:0009209','Ivory epiphysis of the middle phalanx of the 5th finger','Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009210','Pseudoepiphysis of the middle phalanx of the 5th finger','A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009211','Small epiphysis of the middle phalanx of the 5th finger','Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009212','Stippling of the epiphysis of the middle phalanx of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.'),('HP:0009213','Triangular epiphysis of the middle phalanx of the 5th finger','A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009214','Absent epiphysis of the middle phalanx of the 4th finger','Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.'),('HP:0009215','Bracket epiphysis of the middle phalanx of the 4th finger','An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009216','Cone-shaped epiphysis of the middle phalanx of the 4th finger','A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009217','Enlarged epiphysis of the middle phalanx of the 4th finger','Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009218','Fragmentation of the epiphysis of the middle phalanx of the 4th finger','Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.'),('HP:0009219','Irregular epiphysis of the middle phalanx of the 4th finger','Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.'),('HP:0009220','Ivory epiphysis of the middle phalanx of the 4th finger','Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009221','Pseudoepiphysis of the middle phalanx of the 4th finger','A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009222','Small epiphysis of the middle phalanx of the 4th finger','Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009223','Stippling of the epiphysis of the middle phalanx of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.'),('HP:0009224','Triangular epiphysis of the middle phalanx of the 4th finger','A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009225','Aplasia of the proximal phalanx of the 5th finger','Absence of the proximal phalanx of the little (5th) finger.'),('HP:0009226','Short proximal phalanx of the 5th finger','Hypoplastic/small proximal phalanx of the fifth finger.'),('HP:0009227','Broad proximal phalanx of the 5th finger','Increased width of the proximal phalanx of the 5th finger.'),('HP:0009228','Bullet-shaped proximal phalanx of the 5th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.'),('HP:0009229','Curved proximal phalanx of the 5th finger','Curved appearance of the proximal phalanx of the 5th finger.'),('HP:0009230','Osteolytic defects of the proximal phalanx of the 5th finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.'),('HP:0009231','Patchy sclerosis of the proximal phalanx of the 5th finger','Patchy increase in bone density of the proximal phalanx of the 5th finger.'),('HP:0009232','Symphalangism affecting the proximal phalanx of the 5th finger','Fusion of the proximal phalanx of the 5th finger with another bone.'),('HP:0009233','Triangular shaped proximal phalanx of the 5th finger','Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009234','Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal','Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.'),('HP:0009236','Rhomboid or triangular shaped 5th finger proximal phalanx','Rhomboid or triangular shaped 5th (little) finger proximal phalanx.'),('HP:0009237','Short 5th finger','Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.'),('HP:0009238','Aplasia of the 5th finger','Absent 5th (little) finger.'),('HP:0009239','Aplasia/Hypoplasia of the distal phalanx of the 5th finger',''),('HP:0009240','Broad distal phalanx of the 5th finger','Increased width of the distal phalanx of the 5th finger.'),('HP:0009241','Bullet-shaped distal phalanx of the 5th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.'),('HP:0009242','Osteolytic defects of the distal phalanx of the 5th finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.'),('HP:0009243','Patchy sclerosis of the distal phalanx of the 5th finger','Patchy increase in bone density of the distal phalanx of the 5th finger.'),('HP:0009244','Distal/middle symphalangism of 5th finger','Fusion of the terminal/distal and middle phalanges of the 5th finger.'),('HP:0009245','Triangular shaped distal phalanx of the 5th finger','Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009246','Aplasia of the distal phalanx of the 5th finger','Absence of the distal phalanx of the little (5th) finger.'),('HP:0009247','Abnormality of the epiphysis of the middle phalanx of the 4th finger',''),('HP:0009248','Abnormality of the epiphysis of the proximal phalanx of the 4th finger',''),('HP:0009249','Abnormality of the epiphysis of the distal phalanx of the 4th finger',''),('HP:0009250','Absent epiphysis of the distal phalanx of the 4th finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.'),('HP:0009251','Bracket epiphysis of the distal phalanx of the 4th finger','An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009252','Cone-shaped epiphysis of the distal phalanx of the 4th finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009253','Enlarged epiphysis of the distal phalanx of the 4th finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009254','Fragmentation of the epiphysis of the distal phalanx of the 4th finger','Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.'),('HP:0009255','Irregular epiphysis of the distal phalanx of the 4th finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.'),('HP:0009256','Ivory epiphysis of the distal phalanx of the 4th finger','Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009257','Pseudoepiphysis of the distal phalanx of the 4th finger','A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009258','Small epiphysis of the distal phalanx of the 4th finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009259','Stippling of the epiphysis of the distal phalanx of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.'),('HP:0009260','Triangular epiphysis of the distal phalanx of the 4th finger','A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009261','Absent epiphysis of the proximal phalanx of the 4th finger','Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.'),('HP:0009262','Bracket epiphysis of the proximal phalanx of the 4th finger','An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009263','Cone-shaped epiphysis of the proximal phalanx of the 4th finger','A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009264','Enlarged epiphysis of the proximal phalanx of the 4th finger','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009265','Fragmentation of the epiphysis of the proximal phalanx of the 4th finger','Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.'),('HP:0009266','Irregular epiphysis of the proximal phalanx of the 4th finger','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.'),('HP:0009267','Ivory epiphysis of the proximal phalanx of the 4th finger','Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009268','Pseudoepiphysis of the proximal phalanx of the 4th finger','A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009269','Small epiphysis of the proximal phalanx of the 4th finger','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009270','Stippling of the epiphysis of the proximal phalanx of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.'),('HP:0009271','Triangular epiphysis of the proximal phalanx of the 4th finger','A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009272','Aplasia/Hypoplasia of the 4th finger','A small/hypoplastic or absent/aplastic 4th (ring) finger.'),('HP:0009273','Deviation of the 4th finger','Displacement of the 4th finger from its normal position.'),('HP:0009274','Joint contracture of the 4th finger','Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009275','Contracture of the distal interphalangeal joint of the 4th finger','Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.'),('HP:0009276','Contracture of the proximal interphalangeal joint of the 4th finger','Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0009277','Contracture of the metacarpophalangeal joint of the 4th finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.'),('HP:0009278','Ulnar deviation of the 4th finger','Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger).'),('HP:0009279','Radial deviation of the 4th finger','Displacement of the 4th finger towards the radial side (i.e., towards the thumb).'),('HP:0009280','Short 4th finger','Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.'),('HP:0009281','Aplasia of the 4th finger','Absent 4th finger.'),('HP:0009282','Abnormality of the distal phalanx of the 4th finger',''),('HP:0009283','Abnormality of the middle phalanx of the 4th finger',''),('HP:0009284','Abnormality of the proximal phalanx of the 4th finger',''),('HP:0009285','Curved phalanges of the 4th finger','Curved appearance of the phalanges of the 4th (ring) finger.'),('HP:0009286','Curved distal phalanx of the 4th finger','Curved appearance of the distal phalanx of the 4th (ring) finger.'),('HP:0009287','Curved middle phalanx of the 4th finger','Curved appearance of the middle phalanx of the 4th (ring) finger.'),('HP:0009288','Curved proximal phalanx of the 4th finger',''),('HP:0009289','Aplasia/Hypoplasia of the distal phalanx of the 4th finger',''),('HP:0009290','Short distal phalanx of the 4th finger','Hypoplastic/small distal phalanx of the fourth finger.'),('HP:0009291','Aplasia of the distal phalanx of the 4th finger','Absence of the distal phalanx of the ring (4th) finger.'),('HP:0009292','Broad distal phalanx of the 4th finger','Increased width of the distal phalanx of the 4th finger.'),('HP:0009293','Broad middle phalanx of the 4th finger','Increased width of the middle phalanx of the 4th finger.'),('HP:0009294','Absent middle phalanx of 4th finger','Absence of the middle phalanx of the ring (4th) finger.'),('HP:0009295','Short middle phalanx of the 4th finger','Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.'),('HP:0009296','Bullet-shaped middle phalanx of the 4th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.'),('HP:0009297','Osteolytic defects of the middle phalanx of the 4th finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.'),('HP:0009298','Aplasia of the proximal phalanx of the 4th finger','Absence of the proximal phalanx of the ring (4th) finger.'),('HP:0009299','Aplasia/Hypoplasia of the middle phalanx of the 4th finger',''),('HP:0009300','Aplasia/Hypoplasia of the proximal phalanx of the 4th finger',''),('HP:0009301','Short proximal phalanx of the 4th finger','Hypoplastic/small proximal phalanx of the fourth finger.'),('HP:0009302','Bullet-shaped distal phalanx of the 4th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.'),('HP:0009303','Osteolytic defects of the distal phalanx of the 4th finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.'),('HP:0009304','Patchy sclerosis of the distal phalanx of the 4th finger','Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.'),('HP:0009305','Distal/middle symphalangism of 4th finger','Fusion of the terminal/distal and middle phalanges of the 4th finger.'),('HP:0009306','Triangular shaped distal phalanx of the 4th finger','Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009307','Patchy sclerosis of the middle phalanx of the 4th finger','Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.'),('HP:0009308','Symphalangism of middle phalanx of 4th finger','Fusion of the middle phalanx of the 4th finger with another bone.'),('HP:0009309','Triangular shaped middle phalanx of the 4th finger','Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009310','Broad proximal phalanx of the 4th finger','Increased width of the proximal phalanx of the 4th finger.'),('HP:0009311','Bullet-shaped proximal phalanx of the 4th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.'),('HP:0009312','Osteolytic defects of the proximal phalanx of the 4th finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.'),('HP:0009313','Patchy sclerosis of the proximal phalanx of the 4th finger','Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.'),('HP:0009314','Symphalangism affecting the proximal phalanx of the 4th finger','Fusion of the proximal phalanx of the 4th finger with another bone.'),('HP:0009315','Triangular shaped proximal phalanx of the 4th finger','Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009316','Abnormal 3rd finger phalanx morphology','Abnormality of the phalanges of the 3rd (middle) finger.'),('HP:0009317','Deviation of the 3rd finger','Displacement of the 3rd finger from its normal position.'),('HP:0009318','Aplasia/Hypoplasia of the 3rd finger','A small/hypoplastic or absent/aplastic 3rd (middle) finger.'),('HP:0009319','Joint contracture of the 3rd finger','Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009320','Abnormality of the epiphyses of the 3rd finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.'),('HP:0009321','Absent epiphysis of the middle phalanx of the 3rd finger','Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.'),('HP:0009322','Bracket epiphysis of the middle phalanx of the 3rd finger','An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009323','Cone-shaped epiphysis of the middle phalanx of the 3rd finger','A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009324','Enlarged epiphysis of the middle phalanx of the 3rd finger','Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009325','Fragmentation of the epiphysis of the middle phalanx of the 3rd finger','Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.'),('HP:0009326','Irregular epiphysis of the middle phalanx of the 3rd finger','Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.'),('HP:0009327','Ivory epiphysis of the middle phalanx of the 3rd finger','Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009328','Pseudoepiphysis of the middle phalanx of the 3rd finger','A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009329','Small epiphysis of the middle phalanx of the 3rd finger','Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009330','Stippling of the epiphysis of the middle phalanx of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.'),('HP:0009331','Triangular epiphysis of the middle phalanx of the 3rd finger','A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009332','Abnormality of the epiphysis of the distal phalanx of the 3rd finger',''),('HP:0009333','Abnormality of the epiphysis of the proximal phalanx of the 3rd finger',''),('HP:0009334','Abnormality of the epiphysis of the middle phalanx of the 3rd finger',''),('HP:0009335','Absent epiphysis of the distal phalanx of the 3rd finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.'),('HP:0009336','Bracket epiphysis of the distal phalanx of the 3rd finger','An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009337','Cone-shaped epiphysis of the distal phalanx of the 3rd finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009338','Enlarged epiphysis of the distal phalanx of the 3rd finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009339','Fragmentation of the epiphysis of the distal phalanx of the 3rd finger','Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.'),('HP:0009340','Irregular epiphysis of the distal phalanx of the 3rd finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.'),('HP:0009341','Ivory epiphysis of the distal phalanx of the 3rd finger','Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009342','Pseudoepiphysis of the distal phalanx of the 3rd finger','A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009343','Small epiphysis of the distal phalanx of the 3rd finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009344','Stippling of the epiphysis of the distal phalanx of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.'),('HP:0009345','Triangular epiphysis of the distal phalanx of the 3rd finger','A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009346','Absent epiphysis of the proximal phalanx of the 3rd finger','Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.'),('HP:0009347','Bracket epiphysis of the proximal phalanx of the 3rd finger','An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009348','Cone-shaped epiphysis of the proximal phalanx of the 3rd finger','A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009349','Enlarged epiphysis of the proximal phalanx of the 3rd finger','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009350','Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger','Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.'),('HP:0009351','Irregular epiphysis of the proximal phalanx of the 3rd finger','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.'),('HP:0009352','Ivory epiphysis of the proximal phalanx of the 3rd finger','Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009353','Pseudoepiphysis of the proximal phalanx of the 3rd finger','A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009354','Small epiphysis of the proximal phalanx of the 3rd finger','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009355','Stippling of the epiphysis of the proximal phalanx of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.'),('HP:0009356','Triangular epiphysis of the proximal phalanx of the 3rd finger','A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009357','Abnormality of the distal phalanx of the 3rd finger',''),('HP:0009358','Abnormality of the proximal phalanx of the 3rd finger',''),('HP:0009370','Type A brachydactyly',''),('HP:0009371','Type A1 brachydactyly',''),('HP:0009372','Type A2 brachydactyly',''),('HP:0009373','Type C brachydactyly',''),('HP:0009374','Broad phalanges of the 5th finger','Increased width of the phalanges of the 5th finger.'),('HP:0009375','Bullet-shaped phalanges of the 5th finger','A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009376','Aplasia/Hypoplasia of the phalanges of the 5th finger','Aplasia/Hypoplasia of the phalanges of the 5th finger.'),('HP:0009377','Patchy sclerosis of 5th finger phalanx','Uneven increase in bone density of one or more of the phalanges of the 5th finger.'),('HP:0009378','Triangular shaped phalanges of the 5th finger','Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009379','Rhomboid or triangular shaped 5th finger distal phalanx','Rhomboid or triangular shaped 5th (little) finger distal phalanx.'),('HP:0009380','Aplasia of the fingers','Aplasia of one or more fingers.'),('HP:0009381','Short finger','Abnormally short finger associated with developmental hypoplasia.'),('HP:0009382','Absent epiphyses of the 5th finger','Absence of one or more epiphyses of the 5th finger.'),('HP:0009383','Bracket epiphyses of the 5th finger','An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009384','Cone-shaped epiphyses of the 5th finger','A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009385','Enlarged epiphyses of the 5th finger','Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.'),('HP:0009386','Fragmentation of the epiphyses of the 5th finger','Fragmented appearance of the epiphyses of the 5th finger.'),('HP:0009387','Irregular epiphyses of the 5th finger','Irregular radiographic opacity of the epiphyses of the 5th finger.'),('HP:0009388','Ivory epiphyses of the 5th finger','Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009389','Pseudoepiphyses of the 5th finger','A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009390','Small epiphyses of the 5th finger','Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.'),('HP:0009391','Stippling of the epiphyses of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.'),('HP:0009392','Triangular epiphyses of the 5th finger','A triangular appearance of the epiphyses of the 5th finger of the hand.'),('HP:0009393','Absent epiphyses of the 4th finger','Absence of one or more epiphyses of the 4th finger.'),('HP:0009394','Bracket epiphyses of the 4th finger','An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009395','Cone-shaped epiphyses of the 4th finger','A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009396','Enlarged epiphyses of the 4th finger','Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.'),('HP:0009397','Fragmentation of the epiphyses of the 4th finger','Fragmented appearance of the epiphyses of the 4th finger.'),('HP:0009398','Irregular epiphyses of the 4th finger','Irregular radiographic opacity of the epiphyses of the 4th finger.'),('HP:0009399','Ivory epiphyses of the 4th finger','Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009400','Pseudoepiphyses of the 4th finger','A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009401','Small epiphyses of the 4th finger','Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.'),('HP:0009402','Stippling of the epiphyses of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.'),('HP:0009403','Triangular epiphyses of the 4th finger','A triangular appearance of the epiphyses of the 4th finger of the hand.'),('HP:0009404','Broad phalanges of the 4th finger','Increased width of the phalanges of the 4th finger.'),('HP:0009405','Bullet-shaped phalanges of the 4th finger','A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009406','Patchy sclerosis of 4th finger phalanx','Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.'),('HP:0009407','Triangular shaped phalanges of the 4th finger','Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009408','Aplasia/Hypoplasia of the phalanges of the 4th finger',''),('HP:0009410','Absent epiphyses of the 3rd finger','Absence of the epiphyses of the 3rd finger.'),('HP:0009411','Bracket epiphyses of the 3rd finger','An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009412','Cone-shaped epiphyses of the 3rd finger','A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009413','Enlarged epiphyses of the 3rd finger','Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.'),('HP:0009414','Fragmentation of the epiphyses of the 3rd finger','Fragmented appearance of the epiphyses of the 3rd finger.'),('HP:0009415','Irregular epiphyses of the 3rd finger','Irregular radiographic opacity of the epiphyses of the 3rd finger.'),('HP:0009416','Ivory epiphyses of the 3rd finger','Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009417','Pseudoepiphyses of the 3rd finger','A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009418','Small epiphyses of the 3rd finger','Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.'),('HP:0009419','Stippling of the epiphyses of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.'),('HP:0009420','Triangular epiphyses of the 3rd finger','A triangular appearance of the epiphyses of the 3rd finger of the hand.'),('HP:0009421','Aplasia/Hypoplasia of the distal phalanx of the 3rd finger',''),('HP:0009422','Broad distal phalanx of the 3rd finger','Increased width of the distal phalanx of the 3rd finger.'),('HP:0009423','Bullet-shaped distal phalanx of the 3rd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.'),('HP:0009424','Osteolytic defects of the distal phalanx of the 3rd finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.'),('HP:0009425','Patchy sclerosis of the distal phalanx of the 3rd finger','Uneven (irregular) increase in bone density of the distal phalanx of the third finger.'),('HP:0009426','Distal/middle symphalangism of 3rd finger','Fusion of the terminal/distal and middle phalanges of the 3rd finger.'),('HP:0009427','Triangular shaped distal phalanx of the 3rd finger','Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009428','Curved distal phalanx of the 3rd finger','Curved appearance of the distal phalanx of the 3rd finger.'),('HP:0009429','Aplasia of the distal phalanx of the 3rd finger','Absence of the distal phalanx of the middle (3rd) finger.'),('HP:0009430','Broad middle phalanx of the 3rd finger','Increased width of the middle phalanx of the 3rd finger.'),('HP:0009431','Bullet-shaped middle phalanx of the 3rd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.'),('HP:0009432','Curved middle phalanx of the 3rd finger','Curved appearance of the middle phalanx of the 3rd (middle) finger.'),('HP:0009433','Osteolytic defects of the middle phalanx of the 3rd finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.'),('HP:0009434','Patchy sclerosis of the middle phalanx of the 3rd finger','Uneven (irregular) increase in bone density of the middle phalanx of the third finger.'),('HP:0009435','Symphalangism of middle phalanx of 3rd finger','Fusion of the middle phalanx of the 3rd finger with another bone.'),('HP:0009436','Triangular shaped middle phalanx of the 3rd finger','Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009437','Aplasia/Hypoplasia of the middle phalanx of the 3rd finger',''),('HP:0009438','Absent middle phalanx of 3rd finger','Absence of the middle phalanx of the middle (3rd) finger.'),('HP:0009439','Short middle phalanx of the 3rd finger','Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.'),('HP:0009440','Broad phalanges of the 3rd finger','Increased width of the phalanges of the 3rd finger.'),('HP:0009441','Bullet-shaped phalanges of the 3rd finger','A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009442','Curved phalanges of the 3rd finger','Curved appearance of the phalanges of the 3rd finger.'),('HP:0009443','Osteolytic defects of the phalanges of the 3rd finger','Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.'),('HP:0009444','Patchy sclerosis of 3rd finger phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.'),('HP:0009445','Symphalangism of the 3rd finger','Fusion of two or more bones of the 3rd finger.'),('HP:0009446','Triangular shaped phalanges of the 3rd finger','Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009447','Aplasia/Hypoplasia of the phalanges of the 3rd finger',''),('HP:0009448','obsolete Aplasia of the phalanges of the 3rd finger',''),('HP:0009449','obsolete Hypoplastic/small phalanges of the 3rd finger',''),('HP:0009450','Broad proximal phalanx of the 3rd finger','Increased width of the proximal phalanx of the 3rd finger.'),('HP:0009451','Bullet-shaped proximal phalanx of the 3rd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.'),('HP:0009452','Curved proximal phalanx of the 3rd finger','Curved appearance of the proximal phalanx of the 3rd finger.'),('HP:0009453','Osteolytic defects of the proximal phalanx of the 3rd finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.'),('HP:0009454','Patchy sclerosis of the proximal phalanx of the 3rd finger','Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.'),('HP:0009455','Symphalangism affecting the proximal phalanx of the 3rd finger','Fusion of the proximal phalanx of the 3rd finger with another bone.'),('HP:0009456','Triangular shaped proximal phalanx of the 3rd finger','Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009457','Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger',''),('HP:0009458','Aplasia of the proximal phalanx of the 3rd finger','Absence of the proximal phalanx of the 3rd finger.'),('HP:0009459','Short proximal phalanx of the 3rd finger','Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.'),('HP:0009460','Aplasia of the 3rd finger','Absent 3rd finger.'),('HP:0009461','Short 3rd finger','Hypoplastic/small 3rd (middle) finger.'),('HP:0009462','Radial deviation of the 3rd finger','Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).'),('HP:0009463','Ulnar deviation of the 3rd finger','Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).'),('HP:0009464','Ulnar deviation of the 2nd finger','Displacement of the 2nd (index) finger towards the ulnar side.'),('HP:0009465','Ulnar deviation of finger','Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.'),('HP:0009466','Radial deviation of finger','Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.'),('HP:0009467','Radial deviation of the 2nd finger','Displacement of the 2nd finger towards the radial side.'),('HP:0009468','Deviation of the 2nd finger','Displacement of the 2nd finger from its normal position.'),('HP:0009469','Contracture of the distal interphalangeal joint of the 3rd finger','Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.'),('HP:0009470','Contracture of the metacarpophalangeal joint of the 3rd finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.'),('HP:0009471','Contracture of the proximal interphalangeal joint of the 3rd finger','Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.'),('HP:0009473','Joint contracture of the hand','Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.'),('HP:0009477','Proximal/middle symphalangism of 4th finger','Fusion of the proximal and middle phalanges of the 4th finger.'),('HP:0009478','Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal','Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.'),('HP:0009482','Proximal/middle symphalangism of 3rd finger','Fusion of the proximal and middle phalanges of the 3rd finger.'),('HP:0009483','Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal','Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.'),('HP:0009484','Deviation of the hand or of fingers of the hand','Displacement of the hand or of fingers of the hand from their normal position.'),('HP:0009485','Radial deviation of the hand or of fingers of the hand',''),('HP:0009486','Radial deviation of the hand','An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).'),('HP:0009487','Ulnar deviation of the hand','Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).'),('HP:0009488','Absent epiphyses of the 2nd finger','Absence of the epiphyses of the 2nd finger.'),('HP:0009489','Bracket epiphyses of the 2nd finger','An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009490','Cone-shaped epiphyses of the 2nd finger','A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009491','Enlarged epiphyses of the 2nd finger','Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.'),('HP:0009492','Fragmentation of the epiphyses of the 2nd finger','Fragmented appearance of the epiphyses of the 2nd finger.'),('HP:0009493','Irregular epiphyses of the 2nd finger','Irregular radiographic opacity of the epiphyses of the 2nd finger.'),('HP:0009494','Ivory epiphyses of the 2nd finger','Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009495','Pseudoepiphyses of the 2nd finger','A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009496','Small epiphyses of the 2nd finger','Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.'),('HP:0009497','Stippling of the epiphyses of the 2nd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.'),('HP:0009498','Triangular epiphyses of the 2nd finger','A triangular appearance of the epiphyses of the 2nd finger of the hand.'),('HP:0009499','Abnormality of the epiphysis of the distal phalanx of the 2nd finger',''),('HP:0009500','Abnormality of the epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009501','Abnormality of the epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009502','Absent epiphysis of the distal phalanx of the 2nd finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.'),('HP:0009503','Bracket epiphysis of the distal phalanx of the 2nd finger','An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009504','Cone-shaped epiphysis of the distal phalanx of the 2nd finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009505','Enlarged epiphysis of the distal phalanx of the 2nd finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.'),('HP:0009506','Fragmentation of the epiphysis of the distal phalanx of the 2nd finger','Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.'),('HP:0009507','Irregular epiphysis of the distal phalanx of the 2nd finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.'),('HP:0009508','Ivory epiphysis of the distal phalanx of the 2nd finger','Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009509','Pseudoepiphysis of the distal phalanx of the 2nd finger','A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009510','Small epiphysis of the distal phalanx of the 2nd finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.'),('HP:0009511','Stippling of the epiphysis of the distal phalanx of the 2nd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.'),('HP:0009512','Triangular epiphysis of the distal phalanx of the 2nd finger','A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009513','Absent epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009514','Bracket epiphysis of the middle phalanx of the 2nd finger','An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009515','Cone-shaped epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009516','Enlarged epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009517','Fragmentation of the epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009518','Irregular epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009519','Ivory epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009520','Pseudoepiphysis of the middle phalanx of the 2nd finger','A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009521','Small epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009522','Stippling of the epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009523','Triangular epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009524','Absent epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009525','Bracket epiphysis of the proximal phalanx of the 2nd finger','An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009526','Cone-shaped epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009527','Enlarged epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009528','Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009529','Irregular epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009530','Ivory epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009531','Pseudoepiphysis of the proximal phalanx of the 2nd finger','A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009532','Small epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009533','Stippling of the epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009534','Triangular epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009535','Aplasia of the 2nd finger','Absent 2nd (index) finger.'),('HP:0009536','Short 2nd finger','Hypoplasia of the second finger, also known as the index finger.'),('HP:0009537','Flexion contracture of the 2nd finger','Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009538','Contracture of the distal interphalangeal joint of the 2nd finger','Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.'),('HP:0009539','Contracture of the metacarpophalangeal joint of the 2nd finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.'),('HP:0009540','Contracture of the proximal interphalangeal joint of the 2nd finger','Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.'),('HP:0009541','Abnormality of the phalanges of the 2nd finger','Abnormality of the phalanges of the 2nd (index) finger.'),('HP:0009542','Abnormality of the distal phalanx of the 2nd finger',''),('HP:0009543','Abnormality of the middle phalanx of the 2nd finger',''),('HP:0009544','Abnormality of the proximal phalanx of the 2nd finger',''),('HP:0009545','Symphalangism of the 2nd finger',''),('HP:0009546','Triangular shaped phalanges of the 2nd finger','Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009547','Broad phalanges of the 2nd finger',''),('HP:0009548','Bullet-shaped phalanges of the 2nd finger','A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009549','Curved phalanges of the 2nd finger',''),('HP:0009550','Osteolytic defects of the phalanges of the 2nd finger',''),('HP:0009551','Patchy sclerosis of 2nd finger phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.'),('HP:0009552','Aplasia/Hypoplasia of the phalanges of the 2nd finger',''),('HP:0009553','Abnormality of the hairline','The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.'),('HP:0009554','Preauricular hair displacement','An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.'),('HP:0009555','Hypoplasia of the pharynx','Underdevelopment of the pharynx.'),('HP:0009556','Absent tibia','Absence of the tibia.'),('HP:0009557','Aplasia/Hypoplasia of the distal phalanx of the 2nd finger',''),('HP:0009558','Broad distal phalanx of the 2nd finger','Increased width of the distal phalanx of the 2nd finger.'),('HP:0009559','Bullet-shaped distal phalanx of the 2nd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.'),('HP:0009560','Curved distal phalanx of the 2nd finger','Curved appearance of the distal phalanx of the 2nd finger.'),('HP:0009561','Osteolytic defects of the distal phalanx of the 2nd finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.'),('HP:0009562','Patchy sclerosis of the distal phalanx of the 2nd finger','Uneven (irregular) increase in bone density of the distal phalanx of the second finger.'),('HP:0009563','Distal/middle symphalangism of 2nd finger','Fusion of the terminal/distal and middle phalanges of the 2nd finger.'),('HP:0009564','Triangular shaped distal phalanx of the 2nd finger','Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009565','Aplasia of the distal phalanx of the 2nd finger',''),('HP:0009566','Short distal phalanx of the 2nd finger','Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.'),('HP:0009568','Aplasia/Hypoplasia of the middle phalanx of the 2nd finger',''),('HP:0009569','Broad middle phalanx of the 2nd finger','Increased width of the middle phalanx of the second finger.'),('HP:0009570','Bullet-shaped middle phalanx of the 2nd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.'),('HP:0009571','Curved middle phalanx of the 2nd finger','Curved appearance of the middle phalanx of the 2nd finger.'),('HP:0009572','Osteolytic defects of the middle phalanx of the 2nd finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.'),('HP:0009573','Patchy sclerosis of the middle phalanx of the 2nd finger','Uneven (irregular) increase in bone density of the middle phalanx of the second finger.'),('HP:0009574','Symphalangism of middle phalanx of 2nd finger','Fusion of the middle phalanx of the 2nd finger with another bone.'),('HP:0009575','Triangular shaped middle phalanx of the 2nd finger','Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009576','Absent middle phalanx of 2nd finger','Absence of the middle phalanx of the index (2nd) finger.'),('HP:0009577','Short middle phalanx of the 2nd finger','Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.'),('HP:0009579','Proximal/middle symphalangism of the 2nd finger','Fusion of the proximal and middle phalanges of the 2nd finger.'),('HP:0009580','Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger',''),('HP:0009581','Broad proximal phalanx of the 2nd finger','Increased width of the proximal phalanx of the 2nd finger.'),('HP:0009582','Bullet-shaped proximal phalanx of the 2nd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.'),('HP:0009583','Curved proximal phalanx of the 2nd finger','Curved appearance of the proximal phalanx of the 2nd finger.'),('HP:0009584','Osteolytic defects of the proximal phalanx of the 2nd finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.'),('HP:0009585','Patchy sclerosis of the proximal phalanx of the 2nd finger','Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.'),('HP:0009586','Symphalangism affecting the proximal phalanx of the 2nd finger','Fusion of the proximal phalanx of the 2nd finger with another bone.'),('HP:0009587','Triangular shaped proximal phalanx of the 2nd finger','Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009588','Vestibular Schwannoma','A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.'),('HP:0009589','Bilateral vestibular Schwannoma','A bilateral vestibular Schwannoma (acoustic neurinoma).'),('HP:0009590','Unilateral vestibular Schwannoma','A unilateral vestibular Schwannoma (acoustic neurinoma).'),('HP:0009591','Abnormality of the vestibulocochlear nerve','Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.'),('HP:0009592','Astrocytoma','Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.'),('HP:0009593','Peripheral Schwannoma','The presence of a peripheral schwannoma.'),('HP:0009594','Retinal hamartoma','A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.'),('HP:0009595','Occasional neurofibromas','Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.'),('HP:0009596','Aplasia of the proximal phalanx of the 2nd finger','Absence of the proximal phalanx of the 2nd finger.'),('HP:0009597','Short proximal phalanx of the 2nd finger','Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.'),('HP:0009598','Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal','Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.'),('HP:0009599','Abnormality of thumb epiphysis','Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.'),('HP:0009600','Flexion contracture of thumb','Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009601','Aplasia/Hypoplasia of the thumb','Hypoplastic/small or absent thumb.'),('HP:0009602','Abnormality of thumb phalanx','A structural anomaly of one or more phalanges of the thumb.'),('HP:0009603','Deviation of the thumb','Displacement of the thumb from its normal position.'),('HP:0009606','Complete duplication of distal phalanx of the thumb','Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.'),('HP:0009608','Complete duplication of proximal phalanx of the thumb','Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009609','Duplication of the 1st metacarpal','Partail or complete duplication of the first metacarpal bone.'),('HP:0009611','Bifid distal phalanx of the thumb','Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.'),('HP:0009612','Duplication of the distal phalanx of the thumb','Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.'),('HP:0009613','Duplication of the proximal phalanx of the thumb','Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009614','Bifid proximal phalanx of the thumb','This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009615','Complete duplication of the first metacarpal','Complete duplication of the first metacarpal bone.'),('HP:0009616','Bifid first metacarpal','Partial duplication of the first metacarpal bone.'),('HP:0009617','Abnormality of the distal phalanx of the thumb','Any anomaly of the distal phalanx of thumb.'),('HP:0009618','Abnormality of the proximal phalanx of the thumb','An anomaly of the shape or form of the proximal phalanx of the thumb.'),('HP:0009620','obsolete Radial deviation of the thumb',''),('HP:0009621','obsolete Ulnar deviation of the thumb',''),('HP:0009622','Distally placed thumb','Insertion of thumb at a more distal location than normal.'),('HP:0009623','Proximal placement of thumb','Proximal mislocalization of the thumb.'),('HP:0009624','Contractures of the carpometacarpal joint of the thumb','Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.'),('HP:0009625','Contractures of the metacarpophalangeal joint of the thumb','Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.'),('HP:0009626','Contractures of the interphalangeal joint of the thumb','Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.'),('HP:0009629','Aplasia/Hypoplasia of the proximal phalanx of the thumb','This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009630','Broad proximal phalanx of the thumb','Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009631','Bullet-shaped proximal phalanx of the thumb','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.'),('HP:0009632','Curved proximal phalanx of the thumb','A deviation from the normal straight shape of the proximal phalanx of the thumb.'),('HP:0009633','Osteolytic defect of the proximal phalanx of the thumb','Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.'),('HP:0009634','Patchy sclerosis of the proximal phalanx of the thumb','An uneven increase in bone density of the proximal phalanx of the thumb.'),('HP:0009635','Synostosis of thumb phalanx','Fusion of a phalanx of the thumb with another bone.'),('HP:0009636','Triangular shaped proximal phalanx of the thumb','Triangular shaped proximal phalanx of the thumb.'),('HP:0009637','Absent proximal phalanx of thumb','Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009638','Short proximal phalanx of thumb','Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009640','Synostosis of the proximal phalanx of the thumb with the 1st metacarpal','Fusion of the proximal phalanx of the thumb with the 1st metacarpal.'),('HP:0009641','Aplasia/Hypoplasia of the distal phalanx of the thumb',''),('HP:0009642','Broad distal phalanx of the thumb','Increased width of the distal phalanx of thumb.'),('HP:0009643','Bullet-shaped distal phalanx of the thumb','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.'),('HP:0009644','Curved distal phalanx of the thumb','A deviation from the normal straight shape of the distal phalanx of the thumb.'),('HP:0009645','Osteolytic defect of the distal phalanx of the thumb','Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.'),('HP:0009646','Patchy sclerosis of the distal phalanx of the thumb','An uneven increase in bone density of the distal phalanx of the thumb.'),('HP:0009648','Triangular shaped distal phalanx of the thumb','Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009649','Aplasia of the distal phalanx of the thumb','Absence of the distal/terminal phalanx of the thumb.'),('HP:0009650','Short distal phalanx of the thumb','Hypoplastic (short) distal phalanx of the thumb.'),('HP:0009652','Bullet-shaped thumb phalanx','An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009653','Curved thumb phalanx','A deviation from the normal straight shape of a thumb phalanx.'),('HP:0009654','Osteolytic defect of thumb phalanx','Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.'),('HP:0009655','Patchy sclerosis of thumb phalanx','An uneven increase in bone density of one or more of the phalanges of the thumb.'),('HP:0009656','Symphalangism of the thumb','Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.'),('HP:0009657','Triangular shaped thumb phalanx','Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.'),('HP:0009658','Aplasia/Hypoplasia of the phalanges of the thumb',''),('HP:0009659','Partial absence of thumb','The absence of a phalangeal segment of a thumb.'),('HP:0009660','Short phalanx of the thumb','Hypoplastic (short) thumb phalanx.'),('HP:0009662','Abnormality of the epiphysis of the distal phalanx of the thumb','Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.'),('HP:0009663','Abnormality of the epiphysis of the proximal phalanx of the thumb','This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009664','Absent epiphysis of the proximal phalanx of the thumb','Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009665','Bracket epiphysis of the proximal phalanx of the thumb','An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009666','Cone-shaped epiphysis of the proximal phalanx of the thumb','A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009667','Enlarged epiphysis of the proximal phalanx of the thumb','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009668','Fragmentation of the epiphysis of the proximal phalanx of the thumb','Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.'),('HP:0009669','Irregular epiphysis of the proximal phalanx of the thumb','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009670','Ivory epiphysis of the proximal phalanx of the thumb','Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009671','Pseudoepiphysis of the proximal phalanx of the thumb','A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.'),('HP:0009672','Small epiphysis of the proximal phalanx of the thumb','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.'),('HP:0009673','Stippling of the epiphysis of the proximal phalanx of the thumb','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009674','Triangular epiphysis of the proximal phalanx of the thumb','A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009675','Absent epiphysis of the distal phalanx of the thumb','Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.'),('HP:0009676','Bracket epiphysis of the distal phalanx of the thumb','An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009677','Cone-shaped epiphysis of the distal phalanx of the thumb','A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009678','Enlarged epiphysis of the distal phalanx of the thumb','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.'),('HP:0009679','Fragmentation of the epiphysis of the distal phalanx of the thumb','Epiphysis of the distal phalanx of the thumb having multiple bony fragments.'),('HP:0009680','Irregular epiphysis of the distal phalanx of the thumb','Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.'),('HP:0009681','Ivory epiphysis of the distal phalanx of the thumb','Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009682','Pseudoepiphysis of the distal phalanx of the thumb','A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.'),('HP:0009683','Small epiphysis of the distal phalanx of the thumb','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.'),('HP:0009684','Stippling of the epiphysis of the distal phalanx of the thumb','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.'),('HP:0009685','Triangular epiphysis of the distal phalanx of the thumb','A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009686','Absent epiphyses of the thumb','Absence of one or more epiphyses of the thumb.'),('HP:0009687','Bracket epiphyses of the thumb','An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009688','Cone-shaped epiphysis of the thumb','A cone-shaped appearance of the epiphyses of the thumb, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009689','Enlarged thumb epiphysis','Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.'),('HP:0009690','Fragmentation of thumb epiphysis','Epiphysis of the thumb having multiple bony fragments.'),('HP:0009691','Irregular thumb epiphysis','Uneven radiographic opacity of the one or more epiphyses of the thumb.'),('HP:0009692','Ivory epiphysis of the thumb','Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009693','Pseudoepiphysis of the thumb','A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.'),('HP:0009694','Small thumb epiphysis','Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.'),('HP:0009695','Stippling of thumb epiphysis','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.'),('HP:0009696','Triangular epiphyses of the thumb',''),('HP:0009697','Contracture of the distal interphalangeal joint of the fingers','Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.'),('HP:0009699','Osteolytic defects of the hand bones',''),('HP:0009700','Finger symphalangism','An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly.'),('HP:0009701','Metacarpal synostosis','Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).'),('HP:0009702','Carpal synostosis','Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).'),('HP:0009703','Synostosis involving the 1st metacarpal','Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009704','Chronic CSF lymphocytosis','Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.'),('HP:0009705','Synostosis involving the 2nd metacarpal',''),('HP:0009706','Synostosis involving the 3rd metacarpal',''),('HP:0009707','Synostosis involving the 4th metacarpal',''),('HP:0009708','Synostosis involving the 5th metacarpal',''),('HP:0009709','Increased CSF interferon alpha','Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).'),('HP:0009710','Chilblains','Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.'),('HP:0009711','Retinal capillary hemangioma','A benign vascular tumor of the retina without any neoplastic characteristics.'),('HP:0009713','Spinal hemangioblastoma','A hemangioblastoma of the spinal cord.'),('HP:0009714','Abnormality of the epididymis','An abnormality of the epididymis.'),('HP:0009715','Papillary cystadenoma of the epididymis','A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.'),('HP:0009716','Subependymal nodules','Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter.'),('HP:0009717','Cortical tubers','Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.'),('HP:0009718','Subependymal giant-cell astrocytoma','A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.'),('HP:0009719','Hypomelanotic macule','Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.'),('HP:0009720','Adenoma sebaceum','The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.'),('HP:0009721','Shagreen patch','A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.'),('HP:0009722','Dental enamel pits','The presence of small depressions in the dental enamel.'),('HP:0009723','Abnormality of the subungual region','A lesion located beneath a fingernail or toenail.'),('HP:0009724','Subungual fibromas','The presence of fibromata beneath finger or toenails.'),('HP:0009725','Bladder neoplasm','The presence of a neoplasm of the urinary bladder.'),('HP:0009726','Renal neoplasm','The presence of a neoplasm of the kidney.'),('HP:0009727','Achromatic retinal patches','Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.'),('HP:0009728','Neoplasm of striated muscle','A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.'),('HP:0009729','Cardiac rhabdomyoma','A benign tumor of cardiac striated muscle.'),('HP:0009730','Rhabdomyoma','A benign tumor of striated muscle.'),('HP:0009731','Cerebral hamartoma','The presence of a hamartoma of the cerebrum.'),('HP:0009732','Plexiform neurofibroma','A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.'),('HP:0009733','Glioma','The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).'),('HP:0009734','Optic nerve glioma','A glioma originating in the optic nerve or optic chiasm.'),('HP:0009735','Spinal neurofibromas','Neurofibromas originating in the spine.'),('HP:0009736','Tibial pseudarthrosis','Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.'),('HP:0009737','Lisch nodules','The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..'),('HP:0009738','Abnormality of the antihelix','An abnormality of the antihelix.'),('HP:0009739','Hypoplasia of the antihelix','Developmental hypoplasia of the antihelix.'),('HP:0009740','Aplasia of the parotid gland','Absence of the parotid gland.'),('HP:0009741','Nephrosclerosis','Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.'),('HP:0009742','Stiff shoulders','Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.'),('HP:0009743','Distichiasis','Double rows of eyelashes.'),('HP:0009744','Abnormal spinal dura mater morphology','An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.'),('HP:0009745','Spinalarachnoid cyst','Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.'),('HP:0009746','Thick nasal septum','Abnormally increased thickness of the nasal septum.'),('HP:0009747','Lumbosacral hirsutism','Abnormally increased hair growth in the lumbosacral region.'),('HP:0009748','Large earlobe','Increased volume of the earlobe, that is, abnormally prominent ear lobules.'),('HP:0009751','Aplasia of the pectoralis major muscle','Absence of the pectoralis major muscle.'),('HP:0009752','Cleft in skull base','A bony defect in the skull base.'),('HP:0009754','Fibrous syngnathia','Complete or nearly complete soft tissue fusion of the alveolar ridges.'),('HP:0009755','Ankyloblepharon','Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.'),('HP:0009756','Popliteal pterygium','A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).'),('HP:0009757','Intercrural pterygium','A pterygium (or pterygia) in the intercrural (groin) region.'),('HP:0009758','Pyramidal skinfold extending from the base to the top of the nails','Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.'),('HP:0009759','Neck pterygia','Pterygia affecting the neck.'),('HP:0009760','Antecubital pterygium','Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.'),('HP:0009761','Anterior clefting of vertebral bodies','Anterior schisis (cleft or cleavage) of vertebral bodies.'),('HP:0009762','Facial wrinkling','Excessive wrinkling of the skin of the face.'),('HP:0009763','Limb pain','Chronic pain in the limbs with no clear focal etiology.'),('HP:0009765','Low hanging columella','Columella extending inferior to the level of the nasal base, when viewed from the side.'),('HP:0009767','Aplasia/Hypoplasia of the phalanges of the hand','Small or missing phalangeal bones of the fingers of the hand.'),('HP:0009768','Broad phalanges of the hand','Increased width of the phalanges of the hand.'),('HP:0009769','Bullet-shaped phalanges of the hand','The presence of short and wide phalanges which taper distally (\"bullet shaped\").'),('HP:0009770','Curved phalanges of the hand',''),('HP:0009771','Osteolytic defects of the phalanges of the hand','Dissolution or degeneration of bone tissue of the phalanges of the hand.'),('HP:0009772','Patchy sclerosis of finger phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.'),('HP:0009773','Symphalangism affecting the phalanges of the hand','Fusion of two or more phalangeal bones of the hand.'),('HP:0009774','Triangular shaped phalanges of the hand',''),('HP:0009775','Amniotic constriction ring','Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.'),('HP:0009776','Adactyly','The absence of all phalanges of all the digits of a limb and the associated soft tissues.'),('HP:0009777','Absent thumb','Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.'),('HP:0009778','Short thumb','Hypoplasia (congenital reduction in size) of the thumb.'),('HP:0009779','3-4 toe syndactyly','Syndactyly with fusion of toes three and four.'),('HP:0009780','Iliac horns','Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.'),('HP:0009781','Lester`s sign','A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.'),('HP:0009782','Aplasia/Hypoplasia of the biceps','Absence or underdevelopment of the biceps muscle.'),('HP:0009783','Biceps aplasia','Absence of the biceps muscle.'),('HP:0009784','Aplasia/Hypoplasia of the triceps','Absence or underdevelopment of the triceps muscle.'),('HP:0009785','Triceps aplasia','Absence of the triceps muscle.'),('HP:0009786','Aplasia/Hypoplasia of the musculature of the thigh','Absence or underdevelopment involving the musculature of the thigh.'),('HP:0009787','Aplasia/Hypoplasia of the quadriceps','Absence or underdevelopment of the quadriceps muscle.'),('HP:0009788','Quadriceps aplasia','Absence of the quadriceps muscle.'),('HP:0009789','Perianal abscess','The presence of an abscess located around the anus.'),('HP:0009790','Hemisacrum','A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.'),('HP:0009791','Bifid sacrum','Presence of a bifid sacral bone.'),('HP:0009792','Teratoma','The presence of a teratoma.'),('HP:0009793','Presacral teratoma','A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).'),('HP:0009794','Branchial anomaly','Congenital developmental defect arising from the primitive branchial apparatus.'),('HP:0009795','Branchial fistula','A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.'),('HP:0009796','Branchial cyst','A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.'),('HP:0009797','Cholesteatoma','Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.'),('HP:0009798','Euthyroid goiter','A goiter that is not associated with functional thyroid abnormalities.'),('HP:0009799','Supernumerary spleens','The presence of two or more accessory spleens.'),('HP:0009800','Maternal diabetes','Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.'),('HP:0009802','Aplasia of the phalanges of the hand','Absence of one or more of the phalanges of the hand.'),('HP:0009803','Short phalanx of finger','Short (hypoplastic) phalanx of finger, affecting one or more phalanges.'),('HP:0009804','Reduced number of teeth','The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.'),('HP:0009805','Low-output congestive heart failure','A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.'),('HP:0009806','Nephrogenic diabetes insipidus','A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).'),('HP:0009808','Anomaly of the upper limb diaphyses','A structural abnormality of a diaphysis of the arm.'),('HP:0009809','Abnormality of upper limb metaphysis','An anomaly of one or more metaphyses of the arms.'),('HP:0009810','Abnormality of upper limb joint',''),('HP:0009811','Abnormality of the elbow','An anomaly of the joint that connects the upper and the lower arm.'),('HP:0009812','Amelia involving the upper limbs','Amelia of one or both upper limbs.'),('HP:0009813','Upper limb phocomelia','Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).'),('HP:0009814','Upper limb peromelia','Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.'),('HP:0009815','Aplasia/hypoplasia of the extremities','Absence (due to failure to form) or underdevelopment of the extremities.'),('HP:0009816','Lower limb undergrowth','Leg shortening because of underdevelopment of one or more bones of the lower extremity.'),('HP:0009817','Aplasia involving bones of the lower limbs',''),('HP:0009818','Amelia involving the lower limbs','Amelia of one or both legs.'),('HP:0009819','Lower limb phocomelia','Phocomelia affecting only the lower limbs.'),('HP:0009820','Lower limb peromelia','Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.'),('HP:0009821','Forearm undergrowth','Forearm shortening because of underdevelopment of one or more bones of the forearm.'),('HP:0009822','Aplasia involving forearm bones',''),('HP:0009823','Aplasia involving bones of the upper limbs',''),('HP:0009824','Upper limb undergrowth','Arm shortening because of underdevelopment of one or more bones of the upper extremity.'),('HP:0009825','Aplasia involving bones of the extremities',''),('HP:0009826','Limb undergrowth','Limb shortening because of underdevelopment of one or more bones of the extremities.'),('HP:0009827','Amelia','Congenital absence (aplasia) of one or more limbs.'),('HP:0009828','Peromelia','The distal parts of the limbs are missing leading to a stump formation.'),('HP:0009829','Phocomelia','Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).'),('HP:0009830','Peripheral neuropathy','Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.'),('HP:0009831','Mononeuropathy','A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.'),('HP:0009832','Abnormal distal phalanx morphology of finger','Any anomaly of distal phalanx of finger.'),('HP:0009833','Abnormal middle phalanx morphology of the hand','An anomaly of middle phalanx of finger.'),('HP:0009834','Abnormal proximal phalanx morphology of the hand',''),('HP:0009835','Aplasia/Hypoplasia of the distal phalanges of the hand','Absence or underdevelopment of the distal phalanges.'),('HP:0009836','Broad distal phalanx of finger','Abnormally wide (broad) distal phalanx of finger.'),('HP:0009837','Bullet-shaped distal phalanges of the hand','Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009838','Curved distal phalanges of the hand',''),('HP:0009839','Osteolytic defects of the distal phalanges of the hand',''),('HP:0009840','Patchy sclerosis of distal phalanx of finger','Uneven (irregular) increase in bone density of the distal phalanges of the hand.'),('HP:0009843','Aplasia/Hypoplasia of the middle phalanges of the hand',''),('HP:0009844','Broad middle phalanx of finger','Increased width of the middle phalanx of finger.'),('HP:0009845','Bullet-shaped middle phalanges of the hand','Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009846','Curved middle phalanges of the hand',''),('HP:0009847','Osteolytic defects of the middle phalanges of the hand',''),('HP:0009848','Patchy sclerosis of middle phalanx of finger','Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.'),('HP:0009849','Symphalangism of middle phalanx of finger','Fusion of a middle phalanx of a finger with another bone.'),('HP:0009850','Triangular shaped middle phalanges of the hand',''),('HP:0009851','Aplasia/Hypoplasia of the proximal phalanges of the hand',''),('HP:0009852','Broad proximal phalanges of the hand','Increased width of the proximal phalanges of the finger.'),('HP:0009853','Bullet-shaped proximal phalanges of the hand','Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009854','Curved proximal phalanges of the hand',''),('HP:0009855','Osteolytic defects of the proximal phalanges of the hand',''),('HP:0009856','Patchy sclerosis of proximal phalanx of finger','Uneven increase in bone density of the proximal phalanges of the hand.'),('HP:0009857','Symphalangism affecting the proximal phalanges of the hand',''),('HP:0009858','Triangular shaped proximal phalanges of the hand',''),('HP:0009875','Triangular shaped distal phalanges of the hand',''),('HP:0009878','Cerebellar ataxia associated with quadrupedal gait','The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a `bear-like` gait with the legs held straight).'),('HP:0009879','Simplified gyral pattern','An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.'),('HP:0009880','Broad distal phalanges of all fingers','Abnormally wide (broad) distal phalanx of finger of all fingers.'),('HP:0009881','Aplasia of the distal phalanges of the hand',''),('HP:0009882','Short distal phalanx of finger','Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.'),('HP:0009883','Duplication of the distal phalanx of hand','This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009884','Tapered distal phalanges of finger','A reduction in diameter of the distal phalanx of finger towards the distal end.'),('HP:0009885','obsolete Prenatal short stature',''),('HP:0009886','Trichorrhexis nodosa','Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.'),('HP:0009887','Abnormality of hair pigmentation','An abnormality of hair pigmentation (color).'),('HP:0009888','Abnormality of secondary sexual hair','Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.'),('HP:0009889','Localized hirsutism','Abnormally increased hair growth with a localized distribution.'),('HP:0009890','High anterior hairline','Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.'),('HP:0009891','Underdeveloped supraorbital ridges','Flatness of the supraorbital portion of the frontal bones.'),('HP:0009892','Anotia','Complete absence of any auricular structures.'),('HP:0009893','Telangiectasia of the ear','The presence of telangiectasia of the ear.'),('HP:0009894','Thickened ears','Increased thickness of the external ear.'),('HP:0009895','Abnormality of the crus of the helix','An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.'),('HP:0009896','Abnormality of the antitragus','An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.'),('HP:0009897','Horizontal crus of helix','An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.'),('HP:0009898','Underdeveloped crus of the helix','Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.'),('HP:0009899','Prominent crus of helix','The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.'),('HP:0009900','Unilateral deafness','A unilateral absence of sensory perception of sound.'),('HP:0009901','Crumpled ear','Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.'),('HP:0009902','Cleft helix','A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.'),('HP:0009903','Conjunctival nodule','Presence of nodules in the conjunctiva of the eye.'),('HP:0009904','Prominent ear helix','Abnormally prominent ear helix.'),('HP:0009905','Thin ear helix','Decreased thickness of the helix of the ear.'),('HP:0009906','Aplasia/Hypoplasia of the earlobes','Absence or underdevelopment of the ear lobes.'),('HP:0009907','Attached earlobe','Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.'),('HP:0009908','Anterior creases of earlobe','Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.'),('HP:0009909','Uplifted earlobe','An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.'),('HP:0009910','Aplasia of the middle ear ossicles','Absence of the middle ear ossicles, malleus, incus, and stapes.'),('HP:0009911','Abnormal temporal bone morphology','Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.'),('HP:0009912','Abnormality of the tragus','An abnormality of the tragus.'),('HP:0009913','Aplasia/Hypoplasia of the tragus','Aplasia or developmental hypoplasia of the tragus.'),('HP:0009914','Cyclopia','Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.'),('HP:0009915','Corneal asymmetry','The presence of a size difference between the left and right cornea.'),('HP:0009916','Anisocoria','Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.'),('HP:0009917','Persistent pupillary membrane','The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.'),('HP:0009918','Ectopia pupillae','A malposition of the pupil owing to a developmental defect of the iris.'),('HP:0009919','Retinoblastoma','A tumor of the eye originating from cells of the retina.'),('HP:0009920','Nevus of Ota','A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.'),('HP:0009921','Duane anomaly','A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction'),('HP:0009922','Vascular remnant arising from the disc','Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.'),('HP:0009924','Aplasia/Hypoplasia involving the nose','Underdevelopment or absence of the nose or parts thereof.'),('HP:0009926','Epiphora','Abnormally increased lacrimation, that is, excessive tearing (watering eye).'),('HP:0009927','Aplasia of the nose','Complete absence of all nasal structures.'),('HP:0009928','Thick nasal alae','Increase in bulk of the ala nasi.'),('HP:0009929','Abnormality of the columella','An abnormality of the columella.'),('HP:0009930','Asymmetry of the nares','Asymmetry or size difference between the left and right nostril.'),('HP:0009931','Enlarged naris','Increased aperture of the nostril.'),('HP:0009932','Single naris','The presence of only a single nostril.'),('HP:0009933','Narrow naris','Slender, slit-like aperture of the nostril.'),('HP:0009934','Supernumerary naris','The presence of more than two nostrils.'),('HP:0009935','Aplasia/Hypoplasia of the nasal septum','Absence or underdevelopment of the nasal septum.'),('HP:0009936','Narrow nasal septum','Abnormally narrow nasal septum.'),('HP:0009937','Facial hirsutism','Excess facial hair.'),('HP:0009938','Sunken cheeks','Lack or loss of the soft tissues between the zygomata and mandible.'),('HP:0009939','Mandibular aplasia','Absence of the mandible.'),('HP:0009940','Asymmetry of the mandible','Lack of symmetry between the left and right mandible.'),('HP:0009941','Asymmetry of the mouth','The presence of an asymmetric mouth.'),('HP:0009942','Duplication of thumb phalanx','Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009943','Complete duplication of thumb phalanx','A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009944','Partial duplication of thumb phalanx','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009945','Duplication of phalanx of 2nd finger','This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009946','Polydactyly affecting the 2nd finger',''),('HP:0009947','Duplication of the proximal phalanx of the 2nd finger','Partial or complete duplication of the second proximal phalanx of hand.'),('HP:0009948','Duplication of the distal phalanx of the 2nd finger','Partial or complete duplication of the distal phalanx of index finger.'),('HP:0009949','Duplication of the middle phalanx of the 2nd finger','Partial or complete duplication of the middle phalanx of index finger.'),('HP:0009950','Complete duplication of the distal phalanx of the 2nd finger','Complete duplication of the distal phalanx of index finger.'),('HP:0009951','Partial duplication of the distal phalanx of the 2nd finger','Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009952','Complete duplication of the middle phalanx of the 2nd finger','Complete duplication of the middle phalanx of index finger.'),('HP:0009953','Partial duplication of the middle phalanx of the 2nd finger','Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009954','Complete duplication of the proximal phalanx of the 2nd finger','Complete duplication of the second proximal phalanx of hand.'),('HP:0009955','Partial duplication of the proximal phalanx of the 2nd finger','Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009956','Partial duplication of the phalanges of the 2nd finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009957','Complete duplication of the phalanges of the 2nd finger','A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009958','Polydactyly affecting the 3rd finger',''),('HP:0009959','Duplication of phalanx of 3rd finger','This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009960','Complete duplication of the phalanges of the 3rd finger','A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009961','Partial duplication of the phalanges of the 3rd finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009962','Duplication of the distal phalanx of the 3rd finger','Partial or complete duplication of the distal phalanx of middle finger.'),('HP:0009963','Duplication of the middle phalanx of the 3rd finger','Partial or complete duplication of the middle phalanx of middle finger.'),('HP:0009964','Duplication of the proximal phalanx of the 3rd finger','Partial or complete duplication of the third proximal phalanx of hand.'),('HP:0009965','Complete duplication of the distal phalanx of the 3rd finger','Complete duplication of the distal phalanx of middle finger'),('HP:0009966','Complete duplication of the middle phalanx of the 3rd finger','Complete duplication of the middle phalanx of middle finger.'),('HP:0009967','Complete duplication of the proximal phalanx of the 3rd finger','Complete duplication of the third proximal phalanx of hand.'),('HP:0009968','Partial duplication of the distal phalanx of the 3rd finger','Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009969','Partial duplication of the middle phalanx of the 3rd finger','Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009970','Partial duplication of the proximal phalanx of the 3rd finger','Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009971','Polydactyly affecting the 4th finger',''),('HP:0009972','Duplication of phalanx of 4th finger','This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009973','Complete duplication of the phalanges of the 4th finger','A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009974','Partial duplication of the phalanges of the 4th finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009975','Duplication of the distal phalanx of the 4th finger','Partial or complete duplication of the distal phalanx of ring finger.'),('HP:0009976','Duplication of the middle phalanx of the 4th finger','Partial or complete duplication of the middle phalanx of ring finger.'),('HP:0009977','Duplication of the proximal phalanx of the 4th finger','Partial or complete duplication of the fourth proximal phalanx of hand.'),('HP:0009978','Complete duplication of the distal phalanx of the 4th finger','Complete duplication of the distal phalanx of ring finger.'),('HP:0009979','Complete duplication of the middle phalanx of the 4th finger','Complete duplication of the middle phalanx of ring finger.'),('HP:0009980','Complete duplication of the proximal phalanx of the 4th finger','Complete duplication of the fourth proximal phalanx of hand.'),('HP:0009981','Partial duplication of the distal phalanx of the 4th finger','Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009982','Partial duplication of the middle phalanx of the 4th finger','Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009983','Partial duplication of the proximal phalanx of the 4th finger','Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009985','Duplication of phalanx of 5th finger','This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009986','Complete duplication of the phalanges of the 5th finger','A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009987','Partial duplication of the phalanges of the 5th finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009988','Duplication of the distal phalanx of the 5th finger','Partial or complete duplication of the distal phalanx of little finger.'),('HP:0009989','Duplication of the middle phalanx of the 5th finger','Partial or complete duplication of the fifth middle phalanx of hand.'),('HP:0009990','Duplication of the proximal phalanx of the 5th finger','Partial or complete duplication of the fifth proximal phalanx of hand.'),('HP:0009991','Complete duplication of the distal phalanx of the 5th finger','Complete duplication of the distal phalanx of little finger.'),('HP:0009992','Complete duplication of the middle phalanx of the 5th finger','Complete duplication of the fifth middle phalanx of hand.'),('HP:0009993','Complete duplication of the proximal phalanx of the 5th finger','Complete duplication of the fifth proximal phalanx of hand.'),('HP:0009994','Partial duplication of the distal phalanx of the 5th finger','Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009995','Partial duplication of the middle phalanx of the 5th finger','Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009996','Partial duplication of the proximal phalanx of the 5th finger','Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009997','Duplication of phalanx of hand','This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009998','Complete duplication of phalanx of hand','A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009999','Partial duplication of the phalanx of hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010000','Complete duplication of the proximal phalanges of the hand','A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0010001','Complete duplication of the distal phalanges of the hand','A complete duplication affecting one or more of the distal phalanges of the hand.'),('HP:0010002','Complete duplication of the middle phalanges of the hand','A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.'),('HP:0010003','Partial duplication of the proximal phalanges of the hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010004','Partial duplication of the distal phalanges of the hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010005','Partial duplication of the middle phalanges of the hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010006','Duplication of the proximal phalanx of hand','This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0010008','Duplication of the middle phalanx of hand','This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0010009','Abnormality of the 1st metacarpal','A structural anomaly of the first metacarpal.'),('HP:0010010','Abnormality of the 2nd metacarpal','Any abnormality of the second metacarpal bone.'),('HP:0010011','Abnormality of the 3rd metacarpal','Any abnormality of the third metacarpal bone.'),('HP:0010012','Abnormality of the 4th metacarpal','Any abnormality of the fourth metacarpal bone.'),('HP:0010013','Abnormality of the 5th metacarpal','Any abnormality of the fifth metacarpal bone.'),('HP:0010014','Abnormality of the epiphysis of the 1st metacarpal','In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.'),('HP:0010015','Absent epiphysis of the 1st metacarpal',''),('HP:0010016','Bracket epiphysis of the 1st metacarpal','An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter `C` and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.'),('HP:0010017','Cone-shaped epiphysis of the 1st metacarpal','A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a `ball-in-a-socket` appearance.'),('HP:0010018','Enlarged epiphysis of the 1st metacarpal','Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.'),('HP:0010019','Fragmentation of the epiphysis of the 1st metacarpal','Epiphysis of the 1st metacarpal having multiple bony fragments.'),('HP:0010020','Irregular epiphysis of the 1st metacarpal','Uneven radiographic opacity of the epiphysis of the 1st metacarpal.'),('HP:0010021','Ivory epiphysis of the 1st metacarpal','The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010022','Pseudoepiphysis of the 1st metacarpal','The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.'),('HP:0010023','Small epiphysis of the 1st metacarpal','Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.'),('HP:0010024','Epiphyseal stippling of the first metacarpal','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.'),('HP:0010025','Triangular epiphysis of the 1st metacarpal',''),('HP:0010026','Aplasia/Hypoplasia of the 1st metacarpal','Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).'),('HP:0010027','Broad 1st metacarpal','Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0010028','Bullet-shaped 1st metacarpal','The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\").'),('HP:0010029','Curved 1st metacarpal','A deviation from the normal straight shape of the first metacarpal.'),('HP:0010030','Osteolytic defects of the 1st metacarpal','Dissolution or degeneration of bone tissue of the 1st metacarpal.'),('HP:0010031','Patchy sclerosis of the 1st metacarpal','Uneven increase in bone density within the 1st metacarpal.'),('HP:0010033','Triangular shaped 1st metacarpal','This term applies to a triangular shaped 1st metacarpal.'),('HP:0010034','Short 1st metacarpal','A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.'),('HP:0010035','Aplasia of the 1st metacarpal','Absent first metacarpal (long bone) of the hand.'),('HP:0010036','Aplasia/Hypoplasia of the 2nd metacarpal','Aplasia or Hypoplasia affecting the 2nd metacarpal.'),('HP:0010037','Aplasia of the 2nd metacarpal','Absence of the second long bone of the hand.'),('HP:0010038','Short 2nd metacarpal','Short second metacarpal bone because of developmental hypoplasia.'),('HP:0010039','Aplasia/Hypoplasia of the 3rd metacarpal','Aplasia or Hypoplasia affecting the 3rd metacarpal.'),('HP:0010040','Aplasia of the 3rd metacarpal','Absence of the third long bone of the hand.'),('HP:0010041','Short 3rd metacarpal','Short third metacarpal bone.'),('HP:0010042','Aplasia/Hypoplasia of the 4th metacarpal','Aplasia or Hypoplasia affecting the 4th metacarpal.'),('HP:0010043','Aplasia of the 4th metacarpal','Absence of the fourth long bone of the hand.'),('HP:0010044','Short 4th metacarpal','Short fourth metacarpal bone.'),('HP:0010045','Aplasia/Hypoplasia of the 5th metacarpal','Aplasia or Hypoplasia affecting the 5th metacarpal.'),('HP:0010046','Aplasia of the 5th metacarpal','Absence of the fifth long bone of the hand.'),('HP:0010047','Short 5th metacarpal','Short fifth metacarpal bone.'),('HP:0010048','Aplasia of metacarpal bones','Developmental defect associated with absence of one or more metacarpal bones.'),('HP:0010049','Short metacarpal','Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.'),('HP:0010051','Deviation of the hallux','Displacement of the big toe from its normal position.'),('HP:0010052','Abnormal morphology of the proximal phalanx of the hallux','An abnormal shape or form of the proximal phalanx of the big toe.'),('HP:0010053','Abnormality of the distal phalanx of the hallux',''),('HP:0010054','Abnormality of the first metatarsal bone','An anomaly of the first metatarsal bone.'),('HP:0010055','Broad hallux','Visible increase in width of the hallux without an increase in the dorso-ventral dimension.'),('HP:0010056','Abnormality of the epiphyses of the hallux',''),('HP:0010057','Abnormality of the phalanges of the hallux',''),('HP:0010058','Aplasia/Hypoplasia of the phalanges of the hallux',''),('HP:0010059','Broad hallux phalanx','An increase in width in one or more phalanges of the big toe.'),('HP:0010060','Bullet-shaped hallux phalanx','An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010061','Curved hallux phalanx','A deviation from the normal straight form of one or more phalanges of the big toe.'),('HP:0010062','Osteolytic defects of the phalanges of the hallux',''),('HP:0010063','Patchy sclerosis of hallux phalanx','Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010064','Symphalangism affecting the phalanges of the hallux',''),('HP:0010065','Triangular shaped phalanges of the hallux',''),('HP:0010066','Duplication of phalanx of hallux','Partial or complete duplication of one or more phalanx of big toe.'),('HP:0010067','Aplasia/hypoplasia of the 1st metatarsal','Absence or underdevelopment of the first metatarsal bone.'),('HP:0010068','Broad first metatarsal','Increased side-to-side width of the first metatarsal bone.'),('HP:0010069','Bullet-shaped 1st metatarsal','An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.'),('HP:0010070','Curved 1st metatarsal','A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.'),('HP:0010071','Osteolytic defects of the 1st metatarsal','Dissolution or degeneration of bone tissue of the first metatarsal.'),('HP:0010072','Patchy sclerosis of the 1st metatarsal',''),('HP:0010073','Synostosis involving the 1st metatarsal',''),('HP:0010074','Triangular shaped 1st metatarsal',''),('HP:0010075','Duplication of the 1st metatarsal','A developmental defect consisting in the duplication of the first metatarsal bone.'),('HP:0010076','Aplasia/Hypoplasia of the distal phalanx of the hallux',''),('HP:0010077','Broad distal phalanx of the hallux','An increase in width of the distal phalanx of the big toe.'),('HP:0010078','Bullet-shaped distal phalanx of the hallux','An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010079','Curved distal phalanx of the hallux','A deviation from the normal straight form of the distal phalanx of the big toe.'),('HP:0010080','Osteolytic defects of the distal phalanx of the hallux',''),('HP:0010081','Patchy sclerosis of the distal phalanx of the hallux',''),('HP:0010082','Symphalangism affecting the distal phalanx of the hallux',''),('HP:0010083','Triangular shaped distal phalanx of the hallux',''),('HP:0010084','Duplication of the distal phalanx of the hallux',''),('HP:0010085','Aplasia/Hypoplasia of the proximal phalanx of the hallux',''),('HP:0010086','Broad proximal phalanx of the hallux','Increased width of proximal phalanx of big toe.'),('HP:0010087','Bullet-shaped proximal phalanx of the hallux','An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010088','Curved proximal phalanx of the hallux','A deviation from the normal straight form of the proximal phalanx of the big toe.'),('HP:0010089','Osteolytic defects of the proximal phalanx of the hallux',''),('HP:0010090','Patchy sclerosis of the proximal phalanx of the hallux',''),('HP:0010091','Symphalangism affecting the proximal phalanx of the hallux',''),('HP:0010092','Triangular shaped proximal phalanx of the hallux',''),('HP:0010093','Duplication of the proximal phalanx of the hallux','Partial or complete duplication of the proximal phalanx of big toe.'),('HP:0010094','Complete duplication of the proximal phalanx of the hallux','Complete duplication of the proximal phalanx of big toe.'),('HP:0010095','Partial duplication of the proximal phalanx of the hallux','Partial duplication of the proximal phalanx of big toe.'),('HP:0010096','Complete duplication of the distal phalanx of the hallux',''),('HP:0010097','Partial duplication of the distal phalanx of the hallux',''),('HP:0010098','Complete duplication of the 1st metatarsal','A developmental defect consisting in the complete duplication of the first metatarsal bone.'),('HP:0010099','Partial duplication of the 1st metatarsal','A developmental defect consisting in the duplication of part of the first metatarsal bone.'),('HP:0010100','Complete duplication of hallux phalanx','Complete duplication of one or more phalanx of big toe.'),('HP:0010101','Partial duplication of the phalanges of the hallux',''),('HP:0010102','Aplasia of the distal phalanx of the hallux',''),('HP:0010103','Short distal phalanx of hallux','Underdevelopment (hypoplasia) of the distal phalanx of big toe.'),('HP:0010104','Absent first metatarsal','A developmental defect characterized by the absence of the first metatarsal bone.'),('HP:0010105','Short first metatarsal','Short first metatarsal bone.'),('HP:0010106','Aplasia of the proximal phalanx of the hallux',''),('HP:0010107','Short proximal phalanx of hallux','Underdevelopment (hypoplasia) of the proximal phalanx of big toe.'),('HP:0010109','Short hallux','Underdevelopment (hypoplasia) of the big toe.'),('HP:0010110','Aplasia of the phalanges of the hallux',''),('HP:0010111','Short phalanx of hallux','Underdevelopment (hypoplasia) of a phalanx of big toe.'),('HP:0010112','Mesoaxial foot polydactyly','The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.'),('HP:0010113','Absent hallux epiphysis','Failure to form (agenesis) of one or more epiphyses of the big toe.'),('HP:0010114','Bracket epiphyses of the hallux',''),('HP:0010115','Cone-shaped epiphyses of the hallux',''),('HP:0010116','Enlarged epiphyses of the hallux',''),('HP:0010117','Fragmentation of the epiphyses of the hallux',''),('HP:0010118','Irregular epiphyses of the hallux',''),('HP:0010119','Ivory epiphyses of the hallux',''),('HP:0010120','Pseudoepiphyses of the hallux',''),('HP:0010121','Small epiphyses of the hallux',''),('HP:0010122','Stippling of the epiphyses of the hallux','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.'),('HP:0010123','Triangular epiphyses of the hallux',''),('HP:0010124','Abnormality of the epiphysis of the distal phalanx of the hallux',''),('HP:0010125','Abnormality of the epiphysis of the 1st metatarsal','In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.'),('HP:0010126','Abnormality of the epiphysis of the proximal phalanx of the hallux','In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.'),('HP:0010127','Absent epiphysis of the proximal phalanx of the hallux','Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.'),('HP:0010128','Bracket epiphysis of the proximal phalanx of the hallux','The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.'),('HP:0010129','Cone-shaped epiphysis of the proximal phalanx of the hallux',''),('HP:0010130','Enlarged epiphysis of the proximal phalanx of the hallux',''),('HP:0010131','Fragmentation of the epiphysis of the proximal phalanx of the hallux',''),('HP:0010132','Irregular epiphysis of the proximal phalanx of the hallux',''),('HP:0010133','Ivory epiphysis of the proximal phalanx of the hallux',''),('HP:0010134','Pseudoepiphysis of the proximal phalanx of the hallux',''),('HP:0010135','Small epiphysis of the proximal phalanx of the hallux',''),('HP:0010136','Stippling of the epiphysis of the proximal phalanx of the hallux','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.'),('HP:0010137','Triangular epiphysis of the proximal phalanx of the hallux',''),('HP:0010138','Absent epiphysis of the distal phalanx of the hallux','Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.'),('HP:0010139','Bracket epiphysis of the distal phalanx of the hallux','The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.'),('HP:0010140','Cone-shaped epiphysis of the distal phalanx of the hallux',''),('HP:0010141','Enlarged epiphysis of the distal phalanx of the hallux',''),('HP:0010142','Fragmentation of the epiphysis of the distal phalanx of the hallux',''),('HP:0010143','Irregular epiphysis of the distal phalanx of the hallux',''),('HP:0010144','Ivory epiphysis of the distal phalanx of the hallux',''),('HP:0010145','Pseudoepiphysis of the distal phalanx of the hallux',''),('HP:0010146','Small epiphysis of the distal phalanx of the hallux',''),('HP:0010147','Stippling of the epiphysis of the distal phalanx of the hallux','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.'),('HP:0010148','Triangular epiphysis of the distal phalanx of the hallux',''),('HP:0010149','Absent epiphysis of the 1st metatarsal','Failure to form (agenesis) of the epiphysis of the 1st metatarsal.'),('HP:0010150','Bracket epiphysis of the 1st metatarsal','The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.'),('HP:0010151','Cone-shaped epiphysis of the 1st metatarsal','A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.'),('HP:0010152','Enlarged epiphysis of the 1st metatarsal',''),('HP:0010153','Fragmentation of the epiphysis of the 1st metatarsal',''),('HP:0010154','Irregular epiphysis of the 1st metatarsal',''),('HP:0010155','Ivory epiphysis of the 1st metatarsal','The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010156','Pseudoepiphysis of the 1st metatarsal',''),('HP:0010157','Small epiphysis of the 1st metatarsal',''),('HP:0010158','Stippling of the epiphysis of the 1st metatarsal',''),('HP:0010159','Triangular epiphysis of the 1st metatarsal',''),('HP:0010160','Abnormality of the epiphyses of the toes',''),('HP:0010161','Abnormality of the phalanges of the toes',''),('HP:0010162','Absent epiphyses of the toes','Absence of the epiphyses of the phalanges of the toes.'),('HP:0010163','Bracket epiphyses of the toes',''),('HP:0010164','Cone-shaped epiphyses of the toes',''),('HP:0010165','Enlarged epiphyses of the toes',''),('HP:0010166','Fragmentation of the epiphyses of the toes',''),('HP:0010167','Irregular epiphyses of the toes',''),('HP:0010168','Ivory epiphyses of the toes',''),('HP:0010169','Pseudoepiphyses of the toes',''),('HP:0010170','Small epiphyses of the toes',''),('HP:0010171','Epiphyseal stippling of toe phalanges','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.'),('HP:0010172','Triangular epiphyses of the toes',''),('HP:0010173','Aplasia/Hypoplasia of the phalanges of the toes',''),('HP:0010174','Broad phalanx of the toes','Increased width of phalanx of one or more toes.'),('HP:0010175','Bullet-shaped toe phalanx','An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010176','Curved toe phalanx','A deviation from the normal straight form of one or more toe phalanges.'),('HP:0010177','Osteolytic defects of the phalanges of the toes',''),('HP:0010178','Patchy sclerosis of toe phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.'),('HP:0010179','Symphalangism affecting the phalanges of the toes',''),('HP:0010180','Triangular shaped phalanges of the toes',''),('HP:0010181','Duplication of phalanx of toe','Partial/complete duplication of one or more phalanx of toe.'),('HP:0010182','Abnormality of the distal phalanges of the toes',''),('HP:0010183','Abnormality of the middle phalanges of the toes',''),('HP:0010184','Abnormality of toe proximal phalanx','A morphological anomaly of one or more proximal phalanges of one or more toes.'),('HP:0010185','Aplasia/Hypoplasia of the distal phalanges of the toes','Absence or underdevelopment of the distal phalanges of the toes.'),('HP:0010186','Broad distal phalanx of the toes','Increased width of the distal phalanx of toe of one or more toes.'),('HP:0010187','Bullet-shaped distal toe phalanx','An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010188','Curved distal toe phalanx','A deviation from the normal straight form of one or more distal toe phalanges.'),('HP:0010189','Osteolytic defects of the distal phalanges of the toes',''),('HP:0010190','Patchy sclerosis of distal toe phalanx','Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010191','Symphalangism affecting the distal phalanges of the toes',''),('HP:0010192','Triangular shaped distal phalanges of the toes',''),('HP:0010193','Duplication of distal phalanx of toe','A partial or complete duplication of one or more distal phalanx of toe.'),('HP:0010194','Aplasia/Hypoplasia of the middle phalanges of the toes',''),('HP:0010195','Broad middle phalanges of the toes',''),('HP:0010196','Bullet-shaped middle toe phalanx','An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010197','Curved middle toe phalanx','A deviation from the normal straight form of one or more middle toe phalanges.'),('HP:0010198','Osteolytic defects of the middle phalanges of the toes',''),('HP:0010199','Patchy sclerosis of middle toe phalanx','Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010200','Symphalangism affecting the middle phalanges of the toes',''),('HP:0010201','Triangular shaped middle phalanges of the toes',''),('HP:0010202','Duplication of middle phalanx of toe','Partial or complete duplication of a middle phalanx of toe.'),('HP:0010203','Aplasia/hypoplasia of proximal toe phalanx','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes.'),('HP:0010204','Broad proximal phalanx of toe','An increase in width of one ore more proximal toe phalanges.'),('HP:0010205','Bullet-shaped proximal toe phalanx','An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010206','Curved proximal toe phalanx','A deviation from the normal straight shape of a proximal phalanx of one or more toes.'),('HP:0010207','Osteolytic defect of the proximal toe phalanx','Dissolution or degeneration of bone tissue of the proximal toe phalanx.'),('HP:0010208','Patchy sclerosis of proximal toe phalanx','Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010209','Symphalangism affecting the proximal phalanges of the toes',''),('HP:0010210','Triangular shaped proximal phalanges of the toes',''),('HP:0010211','Duplication of proximal phalanx of toe','Partial/complete duplication of a proximal phalanx of toe.'),('HP:0010212','Flexion contracture of the hallux','One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.'),('HP:0010213','Contracture of the tarsometatarsal joint of the hallux','Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc`s joints.'),('HP:0010214','Contracture of the interphalangeal joint of the hallux','The interphalangeal joint of the big toe cannot be straightened actively or passively.'),('HP:0010215','Contractures of the metatarsophalangeal joint of the hallux','The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.'),('HP:0010219','Structural foot deformity','A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.'),('HP:0010220','Abnormality of the epiphysis of the 2nd metacarpal','Any abnormality of the epiphysis of the second metacarpal bone.'),('HP:0010221','obsolete Pseudoepiphysis of the 2nd metacarpal',''),('HP:0010222','Abnormality of the epiphysis of the 3rd metacarpal','Any abnormality of the epiphysis of the third metacarpal bone.'),('HP:0010223','Pseudoepiphysis of the 3rd metacarpal','The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.'),('HP:0010224','Abnormality of the epiphysis of the 4th metacarpal','Any abnormality of the epiphysis of the 4th metacarpal bone.'),('HP:0010225','Pseudoepiphysis of the 4th metacarpal','The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.'),('HP:0010226','Abnormality of the epiphysis of the 5th metacarpal','Any abnormality of the epiphysis of the fifth metacarpal bone.'),('HP:0010227','Pseudoepiphysis of the 5th metacarpal','The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.'),('HP:0010228','Absent epiphyses of the phalanges of the hand','Absence of one or more epiphyses of the phalanges of the fingers.'),('HP:0010229','Bracket epiphyses of the phalanges of the hand','Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010230','Cone-shaped epiphyses of the phalanges of the hand','A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0010231','Enlarged epiphyses of the phalanges of the hand','Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.'),('HP:0010232','Fragmentation of the epiphyses of the phalanges of the hand','Fragmented appearance of the epiphyses of the phalanges of the fingers.'),('HP:0010233','Irregular epiphyses of the phalanges of the hand','Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.'),('HP:0010234','Ivory epiphyses of the phalanges of the hand','Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0010235','Pseudoepiphyses of the phalanges of the hand','A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010236','Small epiphyses of the phalanges of the hand','Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.'),('HP:0010237','Epiphyseal stippling of finger phalanges','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.'),('HP:0010238','Triangular epiphyses of the phalanges of the hand','A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.'),('HP:0010239','Aplasia of the middle phalanx of the hand','Absence of one or more middle phalanx of a finger.'),('HP:0010241','Short proximal phalanx of finger','Congenital hypoplasia of one or more proximal phalanx of finger.'),('HP:0010242','Aplasia of the proximal phalanges of the hand',''),('HP:0010243','Abnormality of the epiphyses of the distal phalanx of finger','Any anomaly of distal epiphysis of phalanx of finger.'),('HP:0010244','Abnormality of the epiphyses of the middle phalanges of the hand',''),('HP:0010245','Abnormality of the epiphyses of the proximal phalanges of the hand',''),('HP:0010246','Absent epiphyses of the distal phalanges of the hand',''),('HP:0010247','Bracket epiphyses of the distal phalanges of the hand','An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010248','Cone-shaped epiphyses of the distal phalanges of the hand',''),('HP:0010249','Enlarged epiphyses of the distal phalanges of the hand',''),('HP:0010250','Fragmentation of the epiphyses of the distal phalanges of the hand',''),('HP:0010251','Irregular epiphyses of the distal phalanges of the hand',''),('HP:0010252','Ivory epiphyses of the distal phalanges of the hand','Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010253','Pseudoepiphyses of the distal phalanges of the hand','A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010254','Small epiphyses of the distal phalanges of the hand',''),('HP:0010255','Stippling of the epiphyses of the distal phalanges of the hand',''),('HP:0010256','Triangular epiphyses of the distal phalanges of the hand',''),('HP:0010257','Absent epiphyses of the middle phalanges of the hand',''),('HP:0010258','Bracket epiphyses of the middle phalanges of the hand','An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010259','Cone-shaped epiphyses of the middle phalanges of the hand',''),('HP:0010260','Enlarged epiphyses of the middle phalanges of the hand',''),('HP:0010261','Fragmentation of the epiphyses of the middle phalanges of the hand','Fragmented appearance of the epiphyses of the middle phalanges of the hand.'),('HP:0010262','Irregular epiphyses of the middle phalanges of the hand',''),('HP:0010263','Ivory epiphyses of the middle phalanges of the hand','Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010264','Pseudoepiphyses of the middle phalanges of the hand','A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010265','Small epiphyses of the middle phalanges of the hand',''),('HP:0010266','Stippling of the epiphyses of the middle phalanges of the hand',''),('HP:0010267','Triangular epiphyses of the middle phalanges of the hand',''),('HP:0010268','Absent epiphyses of the proximal phalanges of the hand',''),('HP:0010269','Bracket epiphyses of the proximal phalanges of the hand','An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010270','Cone-shaped epiphyses of the proximal phalanges of the hand',''),('HP:0010271','Enlarged epiphyses of the proximal phalanges of the hand',''),('HP:0010272','Fragmentation of the epiphyses of the proximal phalanges of the hand',''),('HP:0010273','Irregular epiphyses of the proximal phalanges of the hand',''),('HP:0010274','Ivory epiphyses of the proximal phalanges of the hand','Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010275','Pseudoepiphyses of the proximal phalanges of the hand','A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010276','Small epiphyses of the proximal phalanges of the hand',''),('HP:0010277','Stippling of the epiphyses of the proximal phalanges of the hand',''),('HP:0010278','Triangular epiphyses of the proximal phalanges of the hand',''),('HP:0010280','Stomatitis','Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.'),('HP:0010281','Cleft lower lip','A gap in the lower lip.'),('HP:0010282','Thin lower lip vermilion','Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).'),('HP:0010284','Intra-oral hyperpigmentation','Increased pigmentation, either focal or generalized, of the mucosa of the mouth.'),('HP:0010285','Oral synechia','Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.'),('HP:0010286','Abnormal salivary gland morphology','Any abnormality of the salivary glands, the exocrine glands that produce saliva.'),('HP:0010287','Abnormality of the submandibular glands','Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.'),('HP:0010288','Abnormality of the sublingual glands','Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.'),('HP:0010289','Cleft of alveolar ridge of maxilla','A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth.'),('HP:0010290','Short hard palate','Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).'),('HP:0010291','Prominent palatine ridges','Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.'),('HP:0010292','Absent uvula','Lack of the uvula.'),('HP:0010293','Aplasia/Hypoplasia of the uvula','Underdevelopment or absence of the uvula.'),('HP:0010294','Palate fistula','A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.'),('HP:0010295','Aplasia/Hypoplasia of the tongue','Absence or underdevelopment of the tongue.'),('HP:0010296','Ankyloglossia','Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.'),('HP:0010297','Bifid tongue','Tongue with a median apical indentation or fork.'),('HP:0010298','Smooth tongue','Glossy appearance of the entire tongue surface.'),('HP:0010299','Abnormality of dentin','Any abnormality of dentin.'),('HP:0010300','Abnormally low-pitched voice','An abnormally low-pitched voice.'),('HP:0010301','Spinal dysraphism','A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.'),('HP:0010302','Spinal cord tumor','A neoplasm affecting the spinal cord.'),('HP:0010303','Abnormal spinal meningeal morphology','Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.'),('HP:0010304','Spinal meningeal diverticulum','An outpouching of the spinal meninges.'),('HP:0010305','Absence of the sacrum','Absence (aplasia) of the sacrum.'),('HP:0010306','Short thorax','Reduced inferior to superior extent of the thorax.'),('HP:0010307','Stridor','Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.'),('HP:0010308','Asternia','The congenital absence of the sternum.'),('HP:0010309','Bifid sternum','The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.'),('HP:0010310','Chylothorax','Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.'),('HP:0010311','Aplasia/Hypoplasia of the breasts','Absence or underdevelopment of the breasts.'),('HP:0010312','Asymmetry of the breasts','The presence of asymmetrical breasts.'),('HP:0010313','Breast hypertrophy','The presence of hypertrophy of the breast.'),('HP:0010314','Premature thelarche','Premature development of the breasts.'),('HP:0010315','Aplasia/Hypoplasia of the diaphragm','Absence or underdevelopment of the diaphragm.'),('HP:0010316','Ebstein anomaly of the tricuspid valve','Ebstein`s anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.'),('HP:0010317','Scapular aplasia','Absence of the scapulae.'),('HP:0010318','Aplasia/Hypoplasia of the abdominal wall musculature','Absence or underdevelopment of the abdominal musculature.'),('HP:0010319','Abnormality of the 2nd toe','An anomaly of the second toe.'),('HP:0010320','Abnormality of the 3rd toe','An anomaly of the third toe.'),('HP:0010321','Abnormality of the 4th toe','An anomaly of the fourth toe.'),('HP:0010322','Abnormality of the 5th toe','An anomaly of the little toe.'),('HP:0010323','Abnormality of the epiphyses of the 2nd toe',''),('HP:0010324','Abnormality of phalanx of the 2nd toe','An anomaly of a phalanx of second toe.'),('HP:0010325','Aplasia/Hypoplasia of the 2nd toe',''),('HP:0010326','Deviation of the 2nd toe',''),('HP:0010327','Flexion contracture of the 2nd toe','One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.'),('HP:0010328','Polydactyly affecting the 2nd toe',''),('HP:0010329','Abnormality of the epiphyses of the 3rd toe',''),('HP:0010330','Abnormality of the phalanges of the 3rd toe',''),('HP:0010331','Aplasia/Hypoplasia of the 3rd toe',''),('HP:0010332','Deviation of the 3rd toe',''),('HP:0010333','Flexion contracture of 3rd toe','One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.'),('HP:0010334','Polydactyly affecting the 3rd toe',''),('HP:0010335','Abnormality of the epiphyses of the 4th toe',''),('HP:0010336','Abnormality of the phalanges of the 4th toe',''),('HP:0010337','Aplasia/Hypoplasia of the 4th toe',''),('HP:0010338','Deviation of the 4th toe',''),('HP:0010339','Flexion contracture of the 4th toe','One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.'),('HP:0010340','Polydactyly affecting the 4th toe',''),('HP:0010341','Abnormality of the epiphyses of the 5th toe',''),('HP:0010342','Abnormality of the phalanges of the 5th toe',''),('HP:0010343','Aplasia/Hypoplasia of the 5th toe',''),('HP:0010344','Deviation of the 5th toe',''),('HP:0010345','Flexion contracture of the 5th toe','One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.'),('HP:0010347','Aplasia/Hypoplasia of the phalanges of the 2nd toe',''),('HP:0010348','Broad phalanges of the 2nd toe',''),('HP:0010349','Bullet-shaped 2nd toe phalanx','An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010350','Curved 2nd toe phalanx','A deviation from the normal straight form of one or more phalanges of the second toe.'),('HP:0010351','Osteolytic defects of the phalanges of the 2nd toe',''),('HP:0010352','Patchy sclerosis of 2nd toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010353','Symphalangism affecting the phalanges of the 2nd toe','Fusion of the interphalangeal joints of the 2nd toe.'),('HP:0010354','Triangular shaped phalanges of the 2nd toe',''),('HP:0010355','Duplication of the phalanges of the 2nd toe','Partial or complete duplication of a phalanx of second toe.'),('HP:0010356','Abnormality of the distal phalanx of the 2nd toe',''),('HP:0010357','Abnormality of the middle phalanx of the 2nd toe',''),('HP:0010358','Abnormality of the proximal phalanx of the 2nd toe',''),('HP:0010359','Aplasia/Hypoplasia of the phalanges of the 3rd toe',''),('HP:0010360','Broad phalanges of the 3rd toe',''),('HP:0010361','Bullet-shaped 3rd toe phalanx','An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010362','Curved 3rd toe phalanx','A deviation from the normal straight form of one or more phalanges of the third toe.'),('HP:0010363','Osteolytic defects of the phalanges of the 3rd toe',''),('HP:0010364','Patchy sclerosis of 3rd toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010365','Symphalangism affecting the phalanges of the 3rd toe',''),('HP:0010366','Triangular shaped phalanges of the 3rd toe',''),('HP:0010367','Duplication of phalanx of the 3rd toe','Partial or complete duplication of phalanx of third toe.'),('HP:0010368','Abnormality of the distal phalanx of the 3rd toe',''),('HP:0010369','Abnormality of the middle phalanx of the 3rd toe',''),('HP:0010370','Abnormality of the proximal phalanx of the 3rd toe','An anomaly of the proximal phalanx of third toe.'),('HP:0010371','Aplasia/Hypoplasia of the phalanges of the 4th toe',''),('HP:0010372','Broad phalanges of the 4th toe',''),('HP:0010373','Bullet-shaped 4th toe phalanx','An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010374','Curved 4th toe phalanx','A deviation from the normal straight form of one or more phalanges of the fourth toe.'),('HP:0010375','Osteolytic defects of the phalanges of the 4th toe',''),('HP:0010376','Patchy sclerosis of 4th toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010377','Symphalangism affecting the phalanges of the 4th toe',''),('HP:0010378','Triangular shaped phalanges of the 4th toe',''),('HP:0010379','Duplication of phalanx of the 4th toe','Partial or complete duplication of phalanx of fourth toe.'),('HP:0010380','Abnormality of the distal phalanx of the 4th toe',''),('HP:0010381','Abnormality of the middle phalanx of the 4th toe',''),('HP:0010382','Abnormality of the proximal phalanx of the 4th toe',''),('HP:0010383','Aplasia/Hypoplasia of the phalanges of the 5th toe',''),('HP:0010384','Broad phalanges of the 5th toe',''),('HP:0010385','Bullet-shaped 5th toe phalanx','An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010386','Curved 5th toe phalanx','A deviation from the normal straight form of one or more phalanges of the fifth toe.'),('HP:0010387','Osteolytic defects of the phalanges of the 5th toe',''),('HP:0010388','Patchy sclerosis of 5th toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010389','Symphalangism affecting the phalanges of the 5th toe',''),('HP:0010390','Triangular shaped phalanges of the 5th toe',''),('HP:0010391','Duplication of the phalanges of the 5th toe','Partial or complete duplication of one or more phalanx of little toe.'),('HP:0010392','Abnormality of the distal phalanx of the 5th toe',''),('HP:0010393','Abnormality of the middle phalanx of the 5th toe',''),('HP:0010394','Abnormality of the proximal phalanx of the 5th toe',''),('HP:0010395','Aplasia/hypoplasia of the proximal phalanx of the 2nd toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe.'),('HP:0010396','Broad proximal phalanx of the 2nd toe',''),('HP:0010397','Bullet-shaped proximal phalanx of the 2nd toe','An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010398','Curved proximal phalanx of the 2nd toe','A deviation from the normal straight form of the proximal phalanx of the 2nd toe.'),('HP:0010399','Osteolytic defects of the proximal phalanx of the 2nd toe',''),('HP:0010400','Patchy sclerosis of the proximal phalanx of the 2nd toe',''),('HP:0010401','Symphalangism affecting the proximal phalanx of the 2nd toe',''),('HP:0010402','Triangular shaped proximal phalanx of the 2nd toe',''),('HP:0010403','Duplication of the proximal phalanx of the 2nd toe','Partial or complete duplication of proximal phalanx of second toe.'),('HP:0010404','Aplasia/Hypoplasia of the middle phalanx of the 2nd toe',''),('HP:0010405','Broad middle phalanx of the 2nd toe',''),('HP:0010406','Bullet-shaped middle phalanx of the 2nd toe','An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010407','Curved middle phalanx of the 2nd toe','A deviation from the normal straight form of the middle phalanx of the 2nd toe.'),('HP:0010408','Osteolytic defects of the middle phalanx of the 2nd toe',''),('HP:0010409','Patchy sclerosis of the middle phalanx of the 2nd toe',''),('HP:0010410','Symphalangism affecting the middle phalanx of the 2nd toe',''),('HP:0010411','Triangular shaped middle phalanx of the 2nd toe',''),('HP:0010412','Duplication of the middle phalanx of the 2nd toe','Partial or complete duplication of middle phalanx of second toe.'),('HP:0010413','Aplasia/Hypoplasia of the distal phalanx of the 2nd toe',''),('HP:0010414','Broad distal phalanx of the 2nd toe',''),('HP:0010415','Bullet-shaped distal phalanx of the 2nd toe','An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010416','Curved distal phalanx of the 2nd toe','A deviation from the normal straight form of the distal phalanx of the 2nd toe.'),('HP:0010417','Osteolytic defects of the distal phalanx of the 2nd toe',''),('HP:0010418','Patchy sclerosis of the distal phalanx of the 2nd toe',''),('HP:0010419','Symphalangism affecting the distal phalanx of the 2nd toe',''),('HP:0010420','Triangular shaped distal phalanx of the 2nd toe',''),('HP:0010421','Duplication of the distal phalanx of the 2nd toe','Partial or complete duplication of the distal phalanx of second toe.'),('HP:0010422','Complete duplication of the proximal phalanx of the 2nd toe','Complete duplication of proximal phalanx of second toe.'),('HP:0010423','Partial duplication of the proximal phalanx of the 2nd toe','Partial duplication of proximal phalanx of second toe.'),('HP:0010424','Complete duplication of the distal phalanx of the 2nd toe','Complete duplication of the distal phalanx of second toe.'),('HP:0010425','Partial duplication of the distal phalanx of the 2nd toe','Partial duplication of the distal phalanx of second toe.'),('HP:0010426','Complete duplication of the middle phalanx of the 2nd toe','Complete duplication of middle phalanx of second toe.'),('HP:0010427','Partial duplication of the middle phalanx of the 2nd toe','Partial duplication of middle phalanx of second toe.'),('HP:0010428','Partial duplication of phalanx of the 2nd toe','Partial duplication of a phalanx of second toe.'),('HP:0010429','Complete duplication of the phalanges of the 2nd toe','Complete duplication of a phalanx of second toe.'),('HP:0010430','Aplasia of the phalanges of the 2nd toe',''),('HP:0010431','Short phalanx of the 2nd toe','Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.'),('HP:0010432','Absent distal phalanx of the 2nd toe','Absence of distal phalanx of the second toe as a result of developmental aplasia.'),('HP:0010433','Short distal phalanx of the 2nd toe','Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.'),('HP:0010434','Aplasia of the middle phalanx of the 2nd toe',''),('HP:0010435','Short middle phalanx of the 2nd toe','Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.'),('HP:0010436','Aplasia of the proximal phalanx of the 2nd toe',''),('HP:0010437','Short proximal phalanx of the 2nd toe','Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.'),('HP:0010438','Abnormal ventricular septum morphology','A structural abnormality of the interventricular septum.'),('HP:0010440','Ectopic accesory toe-like appendage','In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely `normal` digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).'),('HP:0010441','Ectopic accessory finger-like appendage','In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely `normal` digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).'),('HP:0010442','Polydactyly','A congenital anomaly characterized by the presence of supernumerary fingers or toes.'),('HP:0010443','Bifid femur','A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.'),('HP:0010444','Pulmonary insufficiency','The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.'),('HP:0010445','Primum atrial septal defect','An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks` gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.'),('HP:0010446','Tricuspid stenosis','A narrowing of the orifice of the tricuspid valve of the heart.'),('HP:0010447','Anal fistula','An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.'),('HP:0010448','Colonic atresia','A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.'),('HP:0010450','Esophageal stenosis','An abnormal narrowing of the lumen of the esophagus.'),('HP:0010451','Aplasia/Hypoplasia of the spleen','Absence or underdevelopment of the spleen.'),('HP:0010452','Ectopia of the spleen','An abnormal (non-anatomic) location of the spleen.'),('HP:0010453','Pelvic bone asymmetry','Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.'),('HP:0010454','Acetabular spurs','The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.'),('HP:0010455','Steep acetabular roof','An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.'),('HP:0010456','Abnormal greater sciatic notch morphology','An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.'),('HP:0010457','obsolete Widening of the sacrosciatic notch',''),('HP:0010458','Female pseudohermaphroditism','Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.'),('HP:0010459','True hermaphroditism','The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.'),('HP:0010460','Abnormality of the female genitalia','Abnormality of the female genital system.'),('HP:0010461','Abnormality of the male genitalia','Abnormality of the male genital system.'),('HP:0010462','Aplasia/Hypoplasia of the ovary','Aplasia or developmental hypoplasia of the ovary.'),('HP:0010463','Aplasia of the ovary','Aplasia, that is failure to develop, of the ovary.'),('HP:0010464','Streak ovary','A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.'),('HP:0010465','Precocious puberty in females','The onset of puberty before the age of 8 years in girls.'),('HP:0010468','Aplasia/Hypoplasia of the testes','Absence or underdevelopment of the testes.'),('HP:0010469','Absent testis','Testis not palpable in the scrotum or inguinal canal.'),('HP:0010470','Supernumerary testes','The presence of more than two testes.'),('HP:0010471','Oligosacchariduria','Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.'),('HP:0010472','Abnormal circulating porphyrin concentration','An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.'),('HP:0010473','Porphyrinuria','Abnormally increased excretion of porphyrins in the urine.'),('HP:0010474','Bladder stones','Buildups of minerals that form in the urinary bladder.'),('HP:0010475','Cloacal exstrophy','Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.'),('HP:0010476','Aplasia/Hypoplasia of the bladder','Absence or underdevelopment of the urinary bladder.'),('HP:0010477','Aplasia of the bladder','Aplasia (absence) of the urinary bladder.'),('HP:0010478','Abnormality of the urachus','Abnormality of the urachus.'),('HP:0010479','Patent urachus','Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.'),('HP:0010480','Urethral fistula','The presence of an abnormal connection between the urethra and another organ or the skin.'),('HP:0010481','Urethral valve','The presence of an abnormal membrane obstructing the urethra.'),('HP:0010482','Acromelia of the upper limbs','Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.'),('HP:0010483','Amniotic constriction rings of arms','Amniotic constriction rings affecting the arms.'),('HP:0010484','Hypertrophy of the upper limb','Abnormal increase in size of the upper limbs (due to an increase of the size of cells).'),('HP:0010485','Hyperextensibility at elbow','The ability of the elbow joint to move beyond its normal range of motion.'),('HP:0010486','Abnormality of the hypothenar eminence','An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).'),('HP:0010487','Small hypothenar eminence','Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.'),('HP:0010488','Aplasia/Hypoplasia of the palmar creases','Absence or underdevelopment of the palmar creases.'),('HP:0010489','Absent palmar crease','The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).'),('HP:0010490','Abnormality of the palmar creases','An abnormality of the creases of the skin of palm of hand.'),('HP:0010491','Digital constriction ring','A narrow segment of significantly reduced circumference of a digit.'),('HP:0010492','Osseous finger syndactyly','Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0010493','Long metacarpals','An abnormally increased length of the metacarpal bones.'),('HP:0010494','Acromelia of the lower limbs','Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.'),('HP:0010495','Amniotic constriction rings of legs','Amniotic constriction rings affecting the legs.'),('HP:0010496','Hypertrophy of the lower limb','Abnormal increase in size of the lower limbs (due to an increase of the size of cells).'),('HP:0010497','Sirenomelia','A developmental defect in which the legs are fused together.'),('HP:0010498','Bipartite patella','A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.'),('HP:0010499','Patellar subluxation','The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.'),('HP:0010500','Hyperextensibility of the knee','The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).'),('HP:0010501','Limitation of knee mobility','An abnormal limitation of knee joint mobility.'),('HP:0010502','Fibular bowing','A bending or abnormal curvature of the fibula.'),('HP:0010503','Fibular duplication','Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.'),('HP:0010504','Increased length of the tibia','An abnormal increase in the length of the tibia.'),('HP:0010505','Limitation of movement at ankles','An abnormal limitation of the mobility of the ankle joint.'),('HP:0010506','Abnormal plantar dermatoglyphics','An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.'),('HP:0010507','Foot asymmetry','A difference in size or shape between the left and right foot.'),('HP:0010508','Metatarsus valgus','A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.'),('HP:0010509','Aplasia of the tarsal bones','Absence of the tarsal bones.'),('HP:0010510','Hypermobility of toe joints','An ability of the toe joints to move beyond their normal range of motion.'),('HP:0010511','Long toe','Toes that appear disproportionately long compared to the foot.'),('HP:0010512','Adrenal calcification','Calcification within the adrenal glands.'),('HP:0010513','Pituitary calcification','Deposition of calcium salts in the pituitary gland.'),('HP:0010514','Hyperpituitarism','Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.'),('HP:0010515','Aplasia/Hypoplasia of the thymus','Absence or underdevelopment of the thymus.'),('HP:0010516','Thymus hyperplasia','Enlargement of the thymus.'),('HP:0010517','Ectopic thymus tissue','The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.'),('HP:0010518','Thyroglossal cyst','An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.'),('HP:0010519','Increased fetal movement','An abnormal increase in quantity or strength of fetal movements.'),('HP:0010521','Gait apraxia','Gait apraxia affecting the ability to make walking movements with the legs.'),('HP:0010522','Dyslexia','A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).'),('HP:0010523','Alexia','An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.'),('HP:0010524','Agnosia','Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.'),('HP:0010525','Finger agnosia','An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.'),('HP:0010526','Dysgraphia','A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.'),('HP:0010527','Astereognosia','Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.'),('HP:0010528','Prosopagnosia','Inability to recognize faces of familiar persons.'),('HP:0010529','Echolalia','The tendency to repeat vocalizations made by another person.'),('HP:0010530','Palatal myoclonus','Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.'),('HP:0010531','Spinal myoclonus','Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.'),('HP:0010532','Paroxysmal vertigo','Paroxysmal episodes of vertigo.'),('HP:0010533','Spasmus nutans','The combination of pendular nystagmus, head nodding, and torticollis.'),('HP:0010534','Transient global amnesia','A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.'),('HP:0010535','Sleep apnea','An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.'),('HP:0010536','Central sleep apnea','Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.'),('HP:0010537','Wide cranial sutures','An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).'),('HP:0010538','Small sella turcica','An abnormally small sella turcica.'),('HP:0010539','Thin calvarium','The presence of an abnormally thin calvarium.'),('HP:0010540','Advanced pneumatization of cranial sinuses','A degree of pneumatization that is increased compared to age-related norms.'),('HP:0010541','Cutis gyrata of scalp','The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.'),('HP:0010542','Vestibular nystagmus','Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.'),('HP:0010543','Opsoclonus','Bursts of large-amplitude multidirectional saccades without intersaccadic interval'),('HP:0010544','Vertical nystagmus','Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.'),('HP:0010545','Downbeat nystagmus','Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.'),('HP:0010546','Muscle fibrillation','Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.'),('HP:0010547','Muscle flaccidity','A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.'),('HP:0010548','Percussion myotonia','A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner`s finger, a rubber percussion hammer, or a similar object).'),('HP:0010549','Weakness due to upper motor neuron dysfunction','Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.'),('HP:0010550','Paraplegia','Severe or complete weakness of both lower extremities with sparing of the upper extremities.'),('HP:0010551','Paraplegia/paraparesis','Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.'),('HP:0010553','Oculogyric crisis','An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.'),('HP:0010554','Cutaneous finger syndactyly','A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.'),('HP:0010557','Overlapping fingers','A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.'),('HP:0010558','Abnormality of the clivus','An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.'),('HP:0010559','Vertical clivus','An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).'),('HP:0010560','Undulate clavicles','An abnormally wavy surface or edge of the clavicles.'),('HP:0010561','Undulate ribs','An abnormally wavy surface or edge of the ribs.'),('HP:0010562','Keloids',''),('HP:0010564','Bifid epiglottis','A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.'),('HP:0010565','Aplasia/Hypoplasia of the Epiglottis','This term applies if the Epiglottis is absent or hypoplastic.'),('HP:0010566','Hamartoma','A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.'),('HP:0010567','Y-shaped metatarsals','Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.'),('HP:0010568','Hamartoma of the eye','A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.'),('HP:0010569','Elevated 7-dehydrocholesterol','Elevated 7-dehydrocholesterol levels.'),('HP:0010570','Low maternal serum alpha-fetoprotein','An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.'),('HP:0010571','Elevated levels of phytanic acid','An abnormal elevation of phytanic acid.'),('HP:0010574','Abnormality of the epiphysis of the femoral head','Any abnormality of the proximal epiphysis of the femur.'),('HP:0010575','Dysplasia of the femoral head','The presence of developmental dysplasia of the femoral head.'),('HP:0010576','Intracranial cystic lesion','A cystic lesion originating within the brain.'),('HP:0010577','Absent epiphyses',''),('HP:0010578','Bracket epiphyses',''),('HP:0010579','Cone-shaped epiphysis','Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.'),('HP:0010580','Enlarged epiphyses','Increased size of epiphyses.'),('HP:0010582','Irregular epiphyses','An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.'),('HP:0010583','Ivory epiphyses','Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0010584','Pseudoepiphyses',''),('HP:0010585','Small epiphyses','Reduction in the size or volume of epiphyses.'),('HP:0010587','Triangular epiphyses',''),('HP:0010588','Premature epimetaphyseal fusion','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0010590','Abnormality of the distal femoral epiphysis','Any abnormality of the distal epiphysis of the femur.'),('HP:0010591','Abnormality of the proximal tibial epiphysis','Any abnormality of the proximal epiphysis of the tibia.'),('HP:0010592','Abnormality of the distal tibial epiphysis',''),('HP:0010593','Abnormality of fibular epiphyses',''),('HP:0010594','Abnormality of the proximal fibular epiphysis','Any abnormality of the proximal epiphysis of the fibula.'),('HP:0010595','Abnormality of the distal fibular epiphysis','Any abnormality of the distal epiphysis of the fibula.'),('HP:0010596','Abnormality of the proximal radial epiphysis','Any abnormality of the proximal epiphysis of the radius.'),('HP:0010597','Abnormality of the distal radial epiphysis','Any abnormality of the distal epiphysis of the radius.'),('HP:0010598','Abnormality of the proximal humeral epiphysis','Any abnormality of the proximal epiphysis of the humerus.'),('HP:0010599','Abnormality of the distal humeral epiphysis','Any abnormality of the distal epiphysis of the humerus.'),('HP:0010600','Abnormality of the distal ulnar epiphysis','Any abnormality of the distal epiphysis of the ulna.'),('HP:0010601','Abnormality of the proximal ulnar epiphysis','Any abnormality of the proximal epiphysis of the ulna.'),('HP:0010602','Type 2 muscle fiber predominance','An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).'),('HP:0010603','Odontogenic keratocysts of the jaw','A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.'),('HP:0010604','Cyst of the eyelid',''),('HP:0010605','Chalazion','A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.'),('HP:0010606','Hordeolum','An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.'),('HP:0010607','Hordeolum externum','Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.'),('HP:0010608','Hordeolum internum','Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.'),('HP:0010609','Skin tags','Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.'),('HP:0010610','Palmar pits',''),('HP:0010612','Plantar pits','The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.'),('HP:0010614','Fibroma','Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.'),('HP:0010615','Angiofibromas','Angiofibroma consist of many often dilated vessels.'),('HP:0010616','Lung fibroma','The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.'),('HP:0010617','Cardiac fibroma','A fibroma of the heart.'),('HP:0010618','Ovarian fibroma','The presence of a fibroma of the ovary.'),('HP:0010619','Fibroadenoma of the breast','A benign biphasic tumor of the breast with epithelial and stromal components.'),('HP:0010620','Malar prominence','Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.'),('HP:0010621','Cutaneous syndactyly of toes','A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.'),('HP:0010622','Neoplasm of the skeletal system','A tumor (abnormal growth of tissue) of the skeleton.'),('HP:0010624','Aplastic/hypoplastic toenail','Absence or underdevelopment of the toenail.'),('HP:0010625','Anterior pituitary dysgenesis','Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.'),('HP:0010626','Anterior pituitary agenesis','Absence of the anterior pituitary gland resulting from a developmental defect.'),('HP:0010627','Anterior pituitary hypoplasia','Underdevelopment of the anterior pituitary gland.'),('HP:0010628','Facial palsy','Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.'),('HP:0010629','Abnormal morphology of the cortex of the humerus','Any abnormality affecting the cortex of the humerus.'),('HP:0010630','Abnormality of metatarsal epiphysis','Any abnormality of a metatarsal bone epiphysis.'),('HP:0010631','Abnormality of the epiphyses of the feet','Any abnormality of the epiphyses of the feet.'),('HP:0010632','Total anosmia','Inability to detect any qualitative olfactory sensation.'),('HP:0010633','Partial anosmia','Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).'),('HP:0010634','Total hyposmia','Reduced ability to detect any qualitative olfactory sensation.'),('HP:0010635','Partial hyposmia','Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).'),('HP:0010636','Schizencephaly','The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.'),('HP:0010637','Conjunctival amyloidosis','A form of amyloidosis that affects the conjunctiva.'),('HP:0010638','Elevated alkaline phosphatase of hepatic origin','An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010639','Elevated alkaline phosphatase of bone origin','An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010640','Abnormality of the nasal cavity','Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).'),('HP:0010641','Abnormality of the midnasal cavity','Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.'),('HP:0010643','Midnasal atresia','Absence or abnormal closure of the midnasal cavity.'),('HP:0010644','Midnasal stenosis','Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.'),('HP:0010645','Aplasia of the distal phalanges of the toes','Absence of the distal phalanges of the toes.'),('HP:0010646','Cervical spine instability','An abnormal lack of stability of the cervical spine.'),('HP:0010647','Abnormal elasticity of skin','Any abnormal increase or reduction in skin elasticity.'),('HP:0010648','Dermal translucency','An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.'),('HP:0010649','Flat nasal alae','An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).'),('HP:0010650','Hypoplasia of the premaxilla','An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.'),('HP:0010651','Abnormal meningeal morphology','An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.'),('HP:0010652','Abnormal dura mater morphology','An abnormality of the Dura mater.'),('HP:0010653','Abnormality of the falx cerebri','An abnormality of the Falx cerebri.'),('HP:0010654','Aplasia of the falx cerebri','A developmental defect characterized by aplasia of the Falx cerebri.'),('HP:0010655','Epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.'),('HP:0010656','Abnormal epiphyseal ossification','An abnormality of the formation and mineralization of an epiphysis.'),('HP:0010657','Patchy reduction of bone mineral density','Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010658','Patchy changes of bone mineral density','Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).'),('HP:0010659','Patchy variation in bone mineral density','Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.'),('HP:0010660','Abnormal hand bone ossification','An abnormality of the formation and mineralization of any bone of the skeleton of hand.'),('HP:0010661','Absence of the third cerebral ventricle','A developmental defect characterized by the absence of the Third ventricle.'),('HP:0010662','Abnormality of the diencephalon','An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.'),('HP:0010663','Abnormality of thalamus morphology','An abnormality of the thalamus.'),('HP:0010664','Fusion of the left and right thalami','A developmental defect characterized by fusion of the left and right halves of the thalamus.'),('HP:0010665','Bilateral coxa valga','The presence of bilateral coxa valga.'),('HP:0010666','Hypoplasia of the anterior nasal spine','Underdevelopment of the anterior nasal spine of maxilla.'),('HP:0010667','Aplasia of the maxilla','A congenital defect characterized by absence of the Maxilla.'),('HP:0010668','Abnormality of the zygomatic bone','An abnormality of the zygomatic bone.'),('HP:0010669','Hypoplasia of the zygomatic bone','Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.'),('HP:0010672','Abnormality of the third metatarsal bone','An abnormality of the third metatarsal bone.'),('HP:0010674','Abnormality of the curvature of the vertebral column','The presence of an abnormal curvature of the vertebral column.'),('HP:0010675','Abnormal foot bone ossification','An abnormality of the formation and mineralization of any bone of the skeleton of foot.'),('HP:0010676','Mechanical ileus',''),('HP:0010677','Enuresis nocturna','Enuresis occurring during sleeping hours.'),('HP:0010678','Enuresis diurna','Enuresis occurring during waking hours of the day.'),('HP:0010679','Elevated tissue non-specific alkaline phosphatase','An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010680','Elevated alkaline phosphatase of renal origin','An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010681','Elevated intestinal alkaline phosphatase','An abnormally increased level of alkaline phosphatase, intestinal type in the blood.'),('HP:0010682','Elevated placental alkaline phosphatase','An abnormally increased level of alkaline phosphatase, placental type in the blood.'),('HP:0010683','Low tissue non-specific alkaline phosphatase','An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010684','Low alkaline phosphatase of bone origin','An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.'),('HP:0010685','Low alkaline phosphatase of renal origin','An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.'),('HP:0010686','Low alkaline phosphatase of hepatic origin','An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.'),('HP:0010687','Low intestinal alkaline phosphatase','An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.'),('HP:0010688','Low placental alkaline phosphatase','An abnormally reduced level of alkaline phosphatase, placental type in the blood.'),('HP:0010689','Mirror image polydactyly','A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes.'),('HP:0010690','Mirror image hand polydactyly','Mirror image duplication of digits affecting the hands only.'),('HP:0010691','Mirror image foot polydactyly','Mirror image duplication of digits affecting the feet.'),('HP:0010692','2-5 finger syndactyly','Syndactyly with fusion of fingers two to five.'),('HP:0010693','Pulverulent cataract','A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.'),('HP:0010694','Lamellar pulverulent cataract','A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance.'),('HP:0010695','Sutural cataract','A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.'),('HP:0010696','Polar cataract','A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.'),('HP:0010697','Anterior pyramidal cataract','A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.'),('HP:0010698','Nuclear pulverulent cataract','A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.'),('HP:0010699','Triangular nuclear cataract','A nuclear cataract with a triangular form.'),('HP:0010700','obsolete Total cataract',''),('HP:0010701','Abnormal immunoglobulin level','An abnormal deviation from normal levels of immunoglobulins in blood.'),('HP:0010702','Increased circulating antibody level','An increased level of gamma globulin (immunoglobulin) in the blood.'),('HP:0010704','1-2 finger syndactyly','Syndactyly with fusion of fingers one and two.'),('HP:0010705','4-5 finger syndactyly','Syndactyly with fusion of fingers four and five.'),('HP:0010706','1-3 finger syndactyly','Syndactyly with fusion of fingers one to three.'),('HP:0010707','1-4 finger syndactyly','Syndactyly with fusion of fingers one to four.'),('HP:0010708','1-5 finger syndactyly','Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).'),('HP:0010709','2-4 finger syndactyly','Syndactyly with fusion of the fingers two to four.'),('HP:0010710','3-5 finger syndactyly','Syndactyly with fusion of fingers three to five.'),('HP:0010711','1-2 toe syndactyly','Syndactyly with fusion of toes one and two.'),('HP:0010712','1-4 toe syndactyly','Syndactyly with fusion of toes one to four.'),('HP:0010713','1-5 toe syndactyly','Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).'),('HP:0010714','2-4 toe syndactyly','Syndactyly with fusion of toes two to four.'),('HP:0010715','2-5 toe syndactyly','Syndactyly with fusion of toes two to five.'),('HP:0010716','3-5 toe syndactyly','Syndactyly with fusion of toes three to five.'),('HP:0010717','Osseous syndactyly of toes','Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0010719','Abnormality of hair texture','An abnormality of the texture of the hair.'),('HP:0010720','Abnormal hair pattern','An abnormality of the distribution of hair growth.'),('HP:0010721','Abnormal hair whorl','An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).'),('HP:0010722','Asymmetry of the ears','An asymmetriy, i.e., difference in size, shape or position between the left and right ear.'),('HP:0010723','Cystic lesions of the pinnae',''),('HP:0010724','Advanced pneumatization of the mastoid process','An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.'),('HP:0010726','Prominent corneal nerve fibers','Abnormal prominence of the corneal nerve fibers.'),('HP:0010727','Spontaneous rupture of the globe','Rupture of the eyeball not due to trauma.'),('HP:0010728','Aplasia of the retina','A developmental defect characterized by absence of the retina.'),('HP:0010729','Cherry red spot of the macula','Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.'),('HP:0010730','Double eyebrow','This may present as a partial or complete duplication of the eyebrows.'),('HP:0010731','Extension of eyebrows towards upper eyelid','The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.'),('HP:0010732','Nodular changes affecting the eyelids','Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.'),('HP:0010733','Naevus flammeus of the eyelid','Naevus flammeus localised in the skin of the eyelid.'),('HP:0010734','Fibrous dysplasia of the bones','Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).'),('HP:0010735','Polyostotic fibrous dysplasia','Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.'),('HP:0010736','Monostotic fibrous dysplasia','Fibrous dysplasia of the bones were lesions are localized in only one bone.'),('HP:0010739','Osteopoikilosis','Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.'),('HP:0010740','Osteopathia striata','A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.'),('HP:0010741','Pedal edema','An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.'),('HP:0010742','Edema of the upper limbs','An abnormal accumulation of fluid beneath the skin of the arms.'),('HP:0010743','Short metatarsal','Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.'),('HP:0010744','Absent metatarsal bone','A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.'),('HP:0010745','Aplasia of the phalanges of the toes','Absence of a digit or of one or more phalanges of a toe.'),('HP:0010746','Hypoplasia of the phalanges of the toes',''),('HP:0010747','Medial flaring of the eyebrow','An abnormal distribution of eyebrow hair growth in the medial direction.'),('HP:0010748','Ectopic lacrimal punctum','Positioning of a lacrimal punctum other than at the medial margins of the eyelid.'),('HP:0010749','Blepharochalasis','Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.'),('HP:0010750','Dermatochalasis','Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.'),('HP:0010751','Dimple chin','A persistent midline depression of the skin over the fat pad of the chin.'),('HP:0010752','Cleft mandible','Midline deficiency of the mandible and some or all overlying tissues.'),('HP:0010753','Midline defect of mandible',''),('HP:0010754','Abnormality of the temporomandibular joint','An anomaly of the temporomandibular joint.'),('HP:0010755','Asymmetry of the maxilla','Asymmetry between the left and right sides of the maxilla.'),('HP:0010756','Aplasia/Hypoplasia of the premaxilla','Absence or underdevelopment of the premaxilla.'),('HP:0010757','Aplasia of the premaxilla','Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.'),('HP:0010758','Abnormality of the premaxilla','An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.'),('HP:0010759','Prominence of the premaxilla','Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.'),('HP:0010760','Absent toe','Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.'),('HP:0010761','Broad columella','Increased width of the columella.'),('HP:0010762','Chordoma','A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.'),('HP:0010763','Low insertion of columella','Insertion of the posterior columella below the nasal base.'),('HP:0010764','Short eyelashes','Decreased length of the eyelashes (subjective).'),('HP:0010765','Palmar hyperkeratosis','Hyperkeratosis affecting the palm of the hand.'),('HP:0010766','Ectopic calcification','Deposition of calcium salts in a tissue or location in which calcification does not normally occur.'),('HP:0010767','Sacrococcygeal pilonidal abnormality','The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.'),('HP:0010769','Pilonidal sinus','A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.'),('HP:0010770','Pilonidal fistula',''),('HP:0010771','Pilonidal abscess','A hair-containing cyst or sinus usually in the coccygeal region.'),('HP:0010772','Anomalous pulmonary venous return','A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.'),('HP:0010773','Partial anomalous pulmonary venous return','A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.'),('HP:0010774','Cor triatriatum','The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).'),('HP:0010775','Vascular ring','A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.'),('HP:0010776','Tracheobronchmegaly','Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.'),('HP:0010777','Bronchomegaly','Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.'),('HP:0010778','Tracheomegaly','Marked widening of the trachea.'),('HP:0010779','Large pelvis bone','The presence of an abnormally large pelvis.'),('HP:0010780','Hyperacusis','Over-sensitivity to certain frequency ranges of sound.'),('HP:0010781','Skin dimple','Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.'),('HP:0010782','Shoulder dimple','A subtype of skin dimples occurring in the shoulder region.'),('HP:0010783','Erythema','Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0010784','Uterine neoplasm','A tumor (abnormal growth of tissue) of the uterus.'),('HP:0010785','Gonadal neoplasm','A tumor (abnormal growth of tissue) of a gonad.'),('HP:0010786','Urinary tract neoplasm','The presence of a neoplasm of the urinary system.'),('HP:0010787','Genital neoplasm','A tumor (abnormal growth of tissue) of the genital system.'),('HP:0010788','Testicular neoplasm','The presence of a neoplasm of the testis.'),('HP:0010789','Abnormality of the Leydig cells',''),('HP:0010790','Hyoplasia of the Leydig cells','Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.'),('HP:0010791','Hyperplasia of the Leydig cells','Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.'),('HP:0010793','Bifid nail','A digit with two nails, with at least some soft tissue between them.'),('HP:0010794','Impaired visuospatial constructive cognition','Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person`s strengths and weaknesses across a range of intellectual abilities).'),('HP:0010795','Cerebellar glioma','A glioma affecting the cerebellum.'),('HP:0010796','Brainstem glioma','A glioma affecting the brainstem.'),('HP:0010797','Hemangioblastoma','A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.'),('HP:0010798','Lip freckle','Increased focal pigmentation of the vermilion of the lips.'),('HP:0010799','Pinealoma','A neoplasm of the pineal gland.'),('HP:0010800','Absent cupid`s bow','Lack of paramedian peaks and median notch of the upper lip vermilion.'),('HP:0010801','Underdeveloped nasolabial fold','Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).'),('HP:0010802','Perioral hyperpigmentation','Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.'),('HP:0010803','Everted upper lip vermilion','Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.'),('HP:0010804','Tented upper lip vermilion','Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.'),('HP:0010805','Upturned corners of mouth','Oral commissures positioned superior to the midline labial fissure.'),('HP:0010806','U-Shaped upper lip vermilion','Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.'),('HP:0010807','Open bite','Visible space between the dental arches in occlusion.'),('HP:0010808','Protruding tongue','Tongue extending beyond the alveolar ridges or teeth at rest.'),('HP:0010809','Broad uvula','Increased width of the uvula (subjective finding).'),('HP:0010810','Long uvula','Increased length of the uvula.'),('HP:0010811','Narrow uvula','Decreased width of the uvula.'),('HP:0010812','Short uvula','Decreased length of the uvula.'),('HP:0010813','Abnormal number of hair whorls','More than two clockwise hair whorls.'),('HP:0010814','Abnormal position of hair whorl','Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.'),('HP:0010815','Nevus sebaceous','A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.'),('HP:0010816','Epidermal nevus','Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.'),('HP:0010817','Linear nevus sebaceous','A type of nevus sebaceous with a linear form, raised borders and yellowish color.'),('HP:0010818','Generalized tonic seizure','A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.'),('HP:0010819','Atonic seizure','Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.'),('HP:0010820','Focal emotional seizure with crying','Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.'),('HP:0010821','Focal emotional seizure with laughing','Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as `mirthless`.'),('HP:0010822','Scintillating scotoma','A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.'),('HP:0010823','Ridged cranial sutures','An overlap of the bony plates of the skull in an infant, with or without early closure.'),('HP:0010824','Abnormal fifth cranial nerve morphology','Any structural abormality of the fifth cranial nerve.'),('HP:0010825','Abnormality of the eleventh cranial nerve','Abnormality of the eleventh cranial nerve.'),('HP:0010826','Abnormality of the twelfth cranial nerve','Abnormality of the twelfth cranial nerve.'),('HP:0010827','Abnormality of the seventh cranial nerve','Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.'),('HP:0010828','Hemifacial spasm','Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.'),('HP:0010829','Impaired temperature sensation','A reduced ability to discriminate between different temperatures.'),('HP:0010830','Impaired tactile sensation','A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel`s hair brush, by asking patients to say `now` each time they feel the stimulus.'),('HP:0010831','Impaired proprioception','A loss or impairment of the sensation of the relative position of parts of the body and joint position.'),('HP:0010832','Abnormality of pain sensation','Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.'),('HP:0010833','Spontaneous pain sensation','Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.'),('HP:0010834','Trophic changes related to pain','Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.'),('HP:0010835','Dissociated sensory loss','A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.'),('HP:0010836','Abnormal circulating copper concentration','An abnormal concentration of copper.'),('HP:0010837','Decreased serum ceruloplasmin','Decreased concentration of ceruloplasmin in the blood.'),('HP:0010838','High nonceruloplasmin-bound serum copper','An increased concentration of non ceruloplasmin bound copper in the blood.'),('HP:0010839','Increased urinary copper concentration','An increased concentration of copper in the urine.'),('HP:0010841','Multifocal epileptiform discharges','An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).'),('HP:0010843','EEG with focal slow activity','Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).'),('HP:0010844','EEG with multifocal slow activity','Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010845','EEG with generalized slow activity','Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010846','EEG with persistent abnormal rhythmic activity',''),('HP:0010847','EEG with spike-wave complexes (<2.5 Hz)','The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).'),('HP:0010848','EEG with spike-wave complexes (2.5-3.5 Hz)','The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).'),('HP:0010849','EEG with spike-wave complexes (>3.5 Hz)','The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).'),('HP:0010850','EEG with spike-wave complexes','Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010851','EEG with burst suppression','The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.'),('HP:0010852','EEG with photoparoxysmal response','EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.'),('HP:0010853','EEG with periodic lateralized epileptiform discharges','Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).'),('HP:0010854','EEG with generalized low amplitude activity','An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010855','EEG with localized low amplitude activity','An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010856','EEG with periodic complexes','Periodically occurring generalized periodic complexes.'),('HP:0010857','EEG with periodic abnormalities','Periodically recurring abnormalities in the EEG.'),('HP:0010858','EEG with hyperventilation-induced epileptiform discharges','Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010859','Frank breech presentation','A kind of breech presentation in which the hips are flexed and the knees are extended.'),('HP:0010860','Complete breech presentation','A kind of breech presentation in which the hips are flexed and the knees are flexed.'),('HP:0010861','Incomplete breech presentation','A kind of breech presentation in which one or both hips are extended and one or both of the fetus` feet are pointing down and entering the birth canal.'),('HP:0010862','Delayed fine motor development','A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.'),('HP:0010863','Receptive language delay','A delay in the acquisition of the ability to understand the speech of others.'),('HP:0010864','Intellectual disability, severe','Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.'),('HP:0010865','Oppositional defiant disorder','An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child`s developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.'),('HP:0010866','Abdominal wall defect','An incomplete closure of the abdominal wall.'),('HP:0010867','Dyssynergia','A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.'),('HP:0010868','Ocular dyssynergia','A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.'),('HP:0010869','Asynergia','A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.'),('HP:0010871','Sensory ataxia','Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.'),('HP:0010872','T-wave inversion','An inversion of the T-wave (which is normally positive).'),('HP:0010873','Cervical spinal cord atrophy','Atrophy of the cervical segment of the spinal cord.'),('HP:0010874','Tendon xanthomatosis','The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).'),('HP:0010875','Chaddock reflex','A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.'),('HP:0010876','Abnormal circulating protein level','An abnormal level of a circulating protein in the blood.'),('HP:0010877','Monocular strabismus','A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes `squints` at different times.'),('HP:0010878','Fetal cystic hygroma','The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.'),('HP:0010879','Postnatal cystic hygroma',''),('HP:0010880','Increased nuchal translucency','The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).'),('HP:0010881','Abnormality of the umbilical cord','An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.'),('HP:0010882','Pulmonary valve atresia','A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.'),('HP:0010883','Aortic valve atresia','A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.'),('HP:0010884','Acromelia','Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.'),('HP:0010885','Avascular necrosis','A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.'),('HP:0010886','Osteochondritis Dissecans','A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.'),('HP:0010888','Morbus Koehler','Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.'),('HP:0010889','Morbus Kienboeck','Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.'),('HP:0010890','Morbus Osgood-Schlatter','Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.'),('HP:0010891','Morbus Scheuermann','A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl`s nodes as seen on x-rays).'),('HP:0010892','Abnormal circulating branched chain amino acid concentration','Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.'),('HP:0010893','Abnormal circulating phenylalanine concentration','Any deviation from the normal concentration of phenylalanine in the blood circulation.'),('HP:0010894','Abnormal circulating serine family amino acid concentration','Any deviation from the normal concentration of a serine family amino acid in the blood circulation.'),('HP:0010895','Abnormal circulating glycine concentration','Any deviation from the normal concentration of glycine in the blood circulation.'),('HP:0010896','Hypersarcosinemia','An elevated plasma concentration of sarcosine.'),('HP:0010897','Hypersarcosinuria','An elevated urinary concentration of sarcosine.'),('HP:0010898','Abnormal circulating sarcosine concentration','An deviation from the normal concentration of sarcosine in the blood circulation.'),('HP:0010899','Abnormal circulating aspartate family amino acid concentration','Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.'),('HP:0010900','Abnormal circulating threonine concentration','Any deviation from the normal concentration of threonine in the blood circulation.'),('HP:0010901','Abnormal circulating methionine concentration','Any deviation from the normal concentration of methionine in the blood circulation.'),('HP:0010902','Abnormal circulating glutamine family amino acid concentration','Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.'),('HP:0010903','Abnormal circulating glutamine concentration','Any deviation from the normal concentration of glutamine in the blood circulation.'),('HP:0010904','Abnormal circulating histidine concentration','An abnormality of a histidine metabolic process.'),('HP:0010905','obsolete Abnormality of histidine metabolism',''),('HP:0010906','Hyperhistidinemia','An increased concentration of histidine in the blood.'),('HP:0010907','Abnormal circulating proline concentration','Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.'),('HP:0010908','Abnormal circulating lysine concentration','Any deviation from the normal concentration of lysine in the blood circulation.'),('HP:0010909','Abnormal circulating arginine concentration','Any deviation from the normal concentration of arginine in the blood circulation.'),('HP:0010910','Hypervalinemia','An increased concentration of valine in the blood.'),('HP:0010911','Hyperleucinemia','An increased concentration of leucine in the blood.'),('HP:0010912','Abnormal circulating isoleucine concentration','Any deviation from the normal concentration of isoleucine in the blood circulation.'),('HP:0010913','Hyperisoleucinemia','An increased concentration of isoleucine in the blood.'),('HP:0010914','Abnormal circulating valine concentration','Any deviation from the normal circulation of valine in the blood circulation.'),('HP:0010915','Abnormal circulating pyruvate family amino acid concentration','An abnormality of a pyruvate family amino acid metabolic process.'),('HP:0010916','Abnormal circulating alanine concentration','An abnormality of an alanine metabolic process.'),('HP:0010917','Abnormal circulating tyrosine concentration','Any deviation from the normal concentration of tyrosine in the blood circulation.'),('HP:0010918','Abnormal circulating cysteine concentration','An abnormality of a cysteine metabolic process.'),('HP:0010919','Abnormal circulating homocysteine concentration','An abnormality of a homocysteine metabolic process.'),('HP:0010920','Zonular cataract','Zonular cataracts are defined to be cataracts that affect specific regions of the lens.'),('HP:0010921','Coralliform cataract','A `coral-like` pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.'),('HP:0010922','Membranous cataract','A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.'),('HP:0010923','Anterior subcapsular cataract','A type of cataract affecting the anterior pole of lens immediately adjacent to (`beneath`) the lens capsule.'),('HP:0010924','Posterior cortical cataract','A cataract that affects the posterior part of the cortex of the lens.'),('HP:0010925','Nuclear punctate cataract',''),('HP:0010926','Aculeiform cataract','A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.'),('HP:0010927','Abnormal blood inorganic cation concentration','An abnormality of divalent inorganic cation homeostasis.'),('HP:0010928','obsolete Increased urinary orotic acid concentration',''),('HP:0010929','Abnormal blood cation concentration','An abnormality of cation homeostasis.'),('HP:0010930','Abnormal blood monovalent inorganic cation concentration','An abnormality of monovalent inorganic cation homeostasis.'),('HP:0010931','Abnormal blood sodium concentration','An abnormal concentration of sodium.'),('HP:0010932','Abnormal circulating nucleobase concentration','An abnormality of a nucleobase metabolic process.'),('HP:0010933','Hyperxanthinemia','An increased level of xanthine in the blood circulation.'),('HP:0010934','Xanthinuria','An increased concentration of xanthine in the urine.'),('HP:0010935','Abnormality of the upper urinary tract','An abnormality of the upper urinary tract.'),('HP:0010936','Abnormality of the lower urinary tract','An abnormality of the lower urinary tract.'),('HP:0010937','Abnormality of the nasal skeleton','An abnormality of the nasal skeleton.'),('HP:0010938','Abnormality of the external nose','An abnormality of the external nose.'),('HP:0010939','Abnormality of the nasal bone','An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.'),('HP:0010940','Aplasia/Hypoplasia of the nasal bone','Absence or underdevelopment of the nasal bone.'),('HP:0010941','Aplasia of the nasal bone','Absence of the nasal bone.'),('HP:0010942','Echogenic intracardiac focus','A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.'),('HP:0010943','Echogenic fetal bowel','Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.'),('HP:0010944','Abnormal renal pelvis morphology','An abnormality of the renal pelvis.'),('HP:0010945','Fetal pyelectasis','Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.'),('HP:0010946','Dilatation of the renal pelvis','The presence of dilatation of the renal pelvis.'),('HP:0010947','Abnormality of ductus venosus blood flow','A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.'),('HP:0010948','Abnormality of the fetal cardiovascular system','An abnormality of the fetal circulation system or fetal echocardiogram.'),('HP:0010949','Abnormality of umbilical vein blood flow','A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.'),('HP:0010950','Abnormality of the fourth ventricle','An abnormality of the fourth ventricle.'),('HP:0010951','Abnormality of the third ventricle','An abnormality of the third ventricle.'),('HP:0010952','Mild fetal ventriculomegaly','A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).'),('HP:0010953','Noncommunicating hydrocephalus','A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.'),('HP:0010954','Hypoplastic right heart','Underdevelopment of the right-sided structures of the heart.'),('HP:0010955','Dilatation of the bladder','The presence of a dilated urinary bladder.'),('HP:0010956','Fetal megacystis','Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.'),('HP:0010957','Congenital posterior urethral valve','A developmental defect resulting in an obstructing membrane in the posterior male urethra.'),('HP:0010958','Bilateral renal agenesis','A bilateral form of agenesis of the kidney.'),('HP:0010959','Congenital cystic adenomatoid malformation of the lung','Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis.'),('HP:0010960','Bronchopulmonary sequestration','The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.'),('HP:0010961','Intralobar sequestration','A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.'),('HP:0010962','Extralobar sequestration','A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.'),('HP:0010963','Absence of stomach bubble on fetal sonography','By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks` gestation.'),('HP:0010964','Abnormal circulating long-chain fatty-acid concentration','Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.'),('HP:0010965','Abnormal circulating phytanic acid level','Any deviation from the normal concentration of phytanic acid in the blood circulation.'),('HP:0010966','Abnormal circulating fatty-acid anion concentration','Any deviation from the normal concentration of a fatty acid anion in the blood circulation.'),('HP:0010967','Abnormal circulating carnitine concentration','Any deviation from the normal concentration of carnitine in the blood circulation.'),('HP:0010968','Abnormality of liposaccharide metabolism','An abnormality of liposaccharide metabolism.'),('HP:0010969','Abnormality of glycolipid metabolism','An abnormality of glycolipid metabolism.'),('HP:0010970','Blood group antigen abnormality','An abnormality of an erythrocyte cell surface molecule.'),('HP:0010971','Absence of Lutheran antigen on erythrocytes','Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.'),('HP:0010972','Anemia of inadequate production','A kind of anemia characterized by inadequate production of erythrocytes.'),('HP:0010974','Abnormal myeloid leukocyte morphology','An abnormality of myeloid leukocytes.'),('HP:0010975','Abnormal B cell count','A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.'),('HP:0010976','B lymphocytopenia','An abnormal decrease from the normal count of B cells.'),('HP:0010977','Abnormal phagocytosis','An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.'),('HP:0010978','Abnormality of immune system physiology','A functional abnormality of the immune system.'),('HP:0010979','Abnormality of lipoprotein cholesterol concentration','An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.'),('HP:0010980','Hyperlipoproteinemia','An abnormal increase in the level of lipoprotein cholesterol in the blood.'),('HP:0010981','Hypolipoproteinemia','An abnormal decrease in the level of lipoprotein cholesterol in the blood.'),('HP:0010982','Polygenic inheritance','A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.'),('HP:0010983','Oligogenic inheritance','A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.'),('HP:0010984','Digenic inheritance','A type of multifactorial inheritance governed by the simultaneous action of two gene loci.'),('HP:0010985','Gonosomal inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.'),('HP:0010987','Abnormal cellular immune system morphology','An abnormality of the morphology or counts of the cells that make up the immune system.'),('HP:0010988','Abnormality of the extrinsic pathway','An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.'),('HP:0010989','Abnormality of the intrinsic pathway','An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.'),('HP:0010990','Abnormality of the common coagulation pathway','An abnormality of blood coagulation, common pathway.'),('HP:0010991','Abnormal morphology of the abdominal musculature','An abnormality of the abdominal musculature.'),('HP:0010992','Stress urinary incontinence','Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.'),('HP:0010993','Abnormality of the cerebral subcortex','An abnormality of the cerebral subcortex.'),('HP:0010994','Abnormal corpus striatum morphology','Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.'),('HP:0010995','Abnormal circulating dicarboxylic acid concentration','Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.'),('HP:0010996','Abnormal circulating monocarboxylic acid cocentration','Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.'),('HP:0010997','Chromosomal breakage induced by ionizing radiation','Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.'),('HP:0010998','Increased susceptibility to spontaneous sister chromatid exchange','An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.'),('HP:0010999','Aplasia of the optic tract',''),('HP:0011000','Aplasia/Hypoplasia of the optic tract',''),('HP:0011001','Increased bone mineral density','An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.'),('HP:0011002','Osteopetrosis','Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.'),('HP:0011003','High myopia','A severe form of myopia with greater than -6.00 diopters.'),('HP:0011004','Abnormal systemic arterial morphology','An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.'),('HP:0011005','Mixed cirrhosis','A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.'),('HP:0011006','Abnormal morphology of the musculature of the neck','An abnormality of the neck musculature.'),('HP:0011008','Temporal pattern','The speed at which disease manifestations appear and develop.'),('HP:0011009','Acute','Sudden appearance of disease manifestations over a short period of time.'),('HP:0011010','Chronic','Slow, creeping onset, slow progress and long continuance of disease manifestations.'),('HP:0011011','Subacute','Somewhat rapid onset and change of disease manifestations.'),('HP:0011012','Abnormal circulating polysaccharide concentration','A deviation from the normal concentration of a polysaccharide in the blood circulation.'),('HP:0011013','Abnormal circulating carbohydrate concentration','A deviation from the normal concentration of a carbohydrate in the blood circulation.'),('HP:0011014','Abnormal glucose homeostasis','Abnormality of glucose homeostasis.'),('HP:0011015','Abnormal blood glucose concentration','An abnormality of the concentration of glucose in the blood.'),('HP:0011016','Abnormality of urine glucose concentration','An abnormality of the concentration of glucose in the urine.'),('HP:0011017','Abnormal cellular physiology','An abnormality in a cellular process.'),('HP:0011018','Abnormality of the cell cycle','An abnormality of the cell cycle.'),('HP:0011019','Abnormality of chromosome condensation','An abnormality of chromosome condensation.'),('HP:0011020','Abnormality of mucopolysaccharide metabolism','An abnormality of the metabolism of mucopolysaccharide.'),('HP:0011021','Abnormality of circulating enzyme level',''),('HP:0011022','Abnormal circulating unsaturated fatty acid concentration','A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.'),('HP:0011023','Abnormal circulating prostaglandin circulation','Any deviation from the normal concentration of a prostaglandin in the blood circulation.'),('HP:0011024','Abnormality of the gastrointestinal tract','An abnormality of the gastrointestinal tract.'),('HP:0011025','Abnormal cardiovascular system physiology','Abnormal functionality of the cardiovascular system.'),('HP:0011026','Aplasia/Hypoplasia of the vagina','Aplasia or developmental hypoplasia of the vagina.'),('HP:0011027','Abnormal fallopian tube morphology','An abnormality of the fallopian tube.'),('HP:0011028','Abnormality of blood circulation','An abnormality of blood circulation.'),('HP:0011029','Internal hemorrhage','The presence of hemorrhage within the body.'),('HP:0011030','Abnormal blood transition element cation concentration','An abnormality of the homeostasis (concentration) of transition element cation.'),('HP:0011031','Abnormality of iron homeostasis','An abnormality of the homeostasis (concentration) of iron cation.'),('HP:0011032','Abnormality of fluid regulation','An abnormality of the regulation of body fluids.'),('HP:0011033','Impairment of fructose metabolism','An impairment of a fructose metabolic process.'),('HP:0011034','Amyloidosis','The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.'),('HP:0011035','Abnormal renal cortex morphology','An abnormality of the cortex of the kidney.'),('HP:0011036','Abnormality of renal excretion','An altered ability of the kidneys to void urine and/or specific substances.'),('HP:0011037','Decreased urine output','A decreased rate of urine production.'),('HP:0011038','Abnormality of renal resorption','An abnormality of renal absorption.'),('HP:0011039','Abnormality of the helix','An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.'),('HP:0011040','Abnormality of the intrahepatic bile duct','An abnormality of the intrahepatic bile duct.'),('HP:0011041','Aplasia/Hypoplasia of the cervical spine','Aplasia or developmental hypoplasia of the cervical vertebral column.'),('HP:0011042','Abnormal blood potassium concentration','An abnormal concentration of potassium.'),('HP:0011043','Abnormality of circulating adrenocorticotropin level','An abnormal concentration of corticotropin in the blood.'),('HP:0011044','Abnormal number of permanent teeth','The presence of an altered number of of permanent teeth.'),('HP:0011045','Agenesis of permanent maxillary central incisor','Agenesis of upper secondary incisor.'),('HP:0011046','Agenesis of primary maxillary central incisor','Agenesis of upper central primary incisor.'),('HP:0011047','Agenesis of primary mandibular central incisor','Agenesis of lower primary incisor.'),('HP:0011048','Agenesis of permanent mandibular central incisor','Agenesis of lower secondary incisor.'),('HP:0011049','Agenesis of primary maxillary lateral incisor','Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.'),('HP:0011050','Agenesis of permanent maxillary lateral incisor','Agenesis of one or more upper lateral secondary incisor.'),('HP:0011051','Agenesis of premolar','Agenesis of premolar tooth.'),('HP:0011052','Agenesis of maxillary premolar','Agenesis of maxillary premolar.'),('HP:0011053','Agenesis of mandibular premolar','Agenesis of mandibular premolar.'),('HP:0011054','Agenesis of molar','Agenesis of molar tooth.'),('HP:0011055','Agenesis of permanent molar','Agenesis of secondary molar tooth.'),('HP:0011056','Agenesis of first permanent molar tooth','Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.'),('HP:0011057','Agenesis of second permanent molar','Agenesis of either mandibular second permanent molar or maxillary second permanent molar.'),('HP:0011058','Generalized periodontitis','A generalized form of periodontitis.'),('HP:0011059','Localized periodontitis','A localized form of periodontitis.'),('HP:0011060','Dentinogenesis imperfecta limited to primary teeth','Developmental dysplasia of dentin affecting only the primary dentition.'),('HP:0011061','Abnormality of dental structure','An abnormality of the structure or composition of the teeth.'),('HP:0011062','Misalignment of incisors','Misaligned incisor.'),('HP:0011063','Abnormality of incisor morphology','An abnormality of morphology of the incisor tooth.'),('HP:0011064','Abnormal number of incisors','The presence of an altered number of the incisor teeth.'),('HP:0011065','Conical incisor','An abnormal conical morphology of the incisor tooth.'),('HP:0011067','Mesiodens','The presence of a supernumerary tooth in the midline between the maxillary central incisors.'),('HP:0011068','Odontoma','The presence of an odontoma.'),('HP:0011069','Increased number of teeth','The presence of a supernumerary, i.e., extra, tooth or teeth.'),('HP:0011070','Abnormality of molar morphology','An abnormality of morphology of molar tooth.'),('HP:0011071','Abnormality of permanent molar morphology','An abnormality of morphology of permanent molar.'),('HP:0011072','Rootless teeth',''),('HP:0011073','Abnormality of dental color','A developmental defect of tooth color.'),('HP:0011074','Localized hypoplasia of dental enamel','A localized form of developmental hypoplasia of the dental enamel.'),('HP:0011075','Green teeth','A green staining of teeth.'),('HP:0011076','Abnormality of premolar','An abnormality of premolar tooth.'),('HP:0011077','Abnormality of molar','An abnormality of molar tooth.'),('HP:0011078','Abnormality of canine','An abnormality of canine tooth.'),('HP:0011079','Impacted tooth','A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).'),('HP:0011080','Abnormality of premolar morphology','An abnormality of morphology of premolar tooth.'),('HP:0011081','Incisor macrodontia','Increased size of the incisor tooth.'),('HP:0011082','Conical primary incisor','An abnormal conical morphology of the primary incisor.'),('HP:0011083','Conical maxillary incisor','An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.'),('HP:0011084','Hypocalcification of dental enamel','A form of hypomineralization of enamel characterized by reduced calcification.'),('HP:0011085','Hypomature dental enamel','A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.'),('HP:0011086','Dentinogenesis imperfecta of primary and permanent teeth','Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.'),('HP:0011087','Talon cusp','Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).'),('HP:0011088','Dens in dente','An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.'),('HP:0011089','Double tooth','A dental anomaly characterized by the presence of a two fused teeth.'),('HP:0011090','Fused teeth','The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.'),('HP:0011091','Gemination','The development of two teeth from a single tooth bud, leading to a larger fused tooth.'),('HP:0011092','Mulberry molar','Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.'),('HP:0011093','Molarization of premolar','Increased size and molar morphology of premolar tooth.'),('HP:0011094','Overbite','Maxillary teeth cover the mandibular teeth when biting to an increased degree.'),('HP:0011095','Overjet','An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.'),('HP:0011096','Peripheral demyelination','A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0011097','Epileptic spasm','A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages'),('HP:0011098','Speech apraxia','A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.'),('HP:0011099','Spastic hemiparesis','Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.'),('HP:0011100','Intestinal atresia','An abnormal closure, or atresia of the tubular structure of the intestine.'),('HP:0011102','Ileal atresia','An abnormal closure, or atresia of the tubular structure of the ileum.'),('HP:0011103','Abnormal left ventricular outflow tract morphology','An abnormality of the outflow tract of the left ventricle.'),('HP:0011104','Abnormality of blood volume homeostasis','An abnormality in the amount of volume occupied by intravascular blood.'),('HP:0011105','Hypervolemia','An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.'),('HP:0011106','Hypovolemia','An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.'),('HP:0011107','Recurrent aphthous stomatitis','Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.'),('HP:0011108','Recurrent sinusitis','A recurrent form of sinusitis.'),('HP:0011109','Chronic sinusitis','A chronic form of sinusitis.'),('HP:0011110','Tonsillitis','An inflammation of the tonsils.'),('HP:0011111','Abnormality of immune serum protein physiology','An abnormality of the concentration or function of circulating immune proteins.'),('HP:0011112','Abnormality of serum cytokine level','Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.'),('HP:0011113','Abnormality of cytokine secretion','An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).'),('HP:0011114','Defective production of NFKB1-dependent cytokines','An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.'),('HP:0011115','Abnormality of chemokine secretion','An abnormality in the production or cellular release of a chemokine (a class of cytokines).'),('HP:0011116','Abnormality of interferon secretion','An abnormality in the production or cellular release of interferons (a class of cytokines).'),('HP:0011117','Abnormality of interleukin secretion','An abnormality in the production or cellular release of interleukins (a class of cytokines).'),('HP:0011118','Abnormality of tumor necrosis factor secretion','An abnormality in the production or cellular release of tumor necrosis factor.'),('HP:0011119','Abnormality of the nasal dorsum','An abnormality of the nasal dorsum, also known as the nasal ridge.'),('HP:0011120','Concave nasal ridge','Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.'),('HP:0011121','Abnormality of skin morphology','Any morphological abnormality of the skin.'),('HP:0011122','Abnormality of skin physiology','Any abnormality of the physiological function of the skin.'),('HP:0011123','Inflammatory abnormality of the skin','The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.'),('HP:0011124','Abnormality of epidermal morphology','An abnormality of the morphology of the epidermis.'),('HP:0011125','Abnormality of dermal melanosomes','An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).'),('HP:0011126','Nephroptosis','A significant descent of the kidney as the patient moves from the supine to the erect position.'),('HP:0011127','Perioral eczema','A type of eczema that occurs in the lips and perioral area.'); +INSERT INTO `Symptoms` VALUES ('HP:0011128','Acute esophageal necrosis','A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion (`black esophagus`) distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.'),('HP:0011129','Bilateral fetal pyelectasis','A bilateral form of fetal pyelectasis.'),('HP:0011130','Abnormal renal calyx morphology','Any abnormality of the morphology of the major calices or minor calices of the kidney.'),('HP:0011131','Perianal rash','The presence of a rash (change of color and texture) of the perianal skin.'),('HP:0011132','Chronic furunculosis','A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.'),('HP:0011133','Increased sensitivity to ionizing radiation','An abnormally increased sensitivity to the effects of ionizing radiation.'),('HP:0011134','Low-grade fever','Mild fever that does not exceed 38.5 degree centrigrade.'),('HP:0011135','Aplasia/Hypoplasia of the sweat glands','Absence or developmental hypoplasia of the sweat glands.'),('HP:0011136','Aplasia of the sweat glands','Absence of the sweat glands.'),('HP:0011137','Non-pruritic urticaria','Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.'),('HP:0011138','Abnormality of skin adnexa morphology','An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.'),('HP:0011139','Gastric duplication','Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.'),('HP:0011140','Gastrointestinal duplication','A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.'),('HP:0011141','Age-related cataract','A type of cataract (opacification of the lens) that forms during the course of aging.'),('HP:0011142','Age-related nuclear cataract','A type of age-related cataract that primarily affects the nucleus of the lens.'),('HP:0011143','Age-related cortical cataract','A type of age-related cataract that primarily affects the cortex of the lens.'),('HP:0011144','Age-related posterior subcapsular cataract','A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.'),('HP:0011145','Symptomatic seizures','A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.'),('HP:0011146','Dialeptic seizure','A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.'),('HP:0011147','Typical absence seizure','A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.'),('HP:0011148','obsolete Absence seizures with special features',''),('HP:0011149','Absence seizure with eyelid myoclonia','An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.'),('HP:0011150','Myoclonic absence seizure','Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.'),('HP:0011151','Atypical absence status epilepticus','Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.'),('HP:0011152','Early onset absence seizures','Typical absence seizures starting before the age of 4 years.'),('HP:0011153','Focal motor seizure','A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.'),('HP:0011154','Focal autonomic seizure','An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.'),('HP:0011155','obsolete Focal autonomic seizures with altered responsiveness',''),('HP:0011156','obsolete Focal autonomic seizures without altered responsiveness',''),('HP:0011157','Focal sensory seizure','A focal sensory seizure is a type seizure beginning with a subjective sensation.'),('HP:0011158','Focal sensory seizure with auditory features','A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.'),('HP:0011159','Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena','A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.'),('HP:0011160','Focal sensory seizure with gustatory features','A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.'),('HP:0011161','Focal sensory seizure with olfactory features','Seizures characterized by olfactory phenomena as its first clinical manifestation.'),('HP:0011162','Psychic auras','Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.'),('HP:0011163','Focal sensory seizure with somatosensory features','A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.'),('HP:0011164','Vegetative auras','A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions.'),('HP:0011165','Focal sensory seizure with visual features','A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.'),('HP:0011166','Focal myoclonic seizure','A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.'),('HP:0011167','Focal tonic seizure','A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.'),('HP:0011168','Eyelid myoclonias','Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.'),('HP:0011169','Generalized clonic seizure','Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.'),('HP:0011170','Generalized myoclonic-atonic seizure','A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.'),('HP:0011171','Simple febrile seizure','A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.'),('HP:0011172','Complex febrile seizure','A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd`s paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.'),('HP:0011173','Focal behavior arrest seizure','A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.'),('HP:0011174','Focal hyperkinetic seizure','A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.'),('HP:0011175','Focal motor seizure with version','A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.'),('HP:0011176','EEG with constitutional variants','An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.'),('HP:0011177','EEG with 4-5/second background activity','EEG background activity at 4-5/second.'),('HP:0011178','Alpha-EEG','EEG dominated by diffuse alpha-waves (8-13Hz).'),('HP:0011179','Beta-EEG','EEG dominated by diffuse beta-waves (>13 Hz).'),('HP:0011180','Partial beta-EEG','EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).'),('HP:0011181','Low voltage EEG','EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).'),('HP:0011182','Interictal epileptiform activity','Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.'),('HP:0011183','EEG with hyperventilation-induced focal epileptiform discharges','Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0011184','EEG with hyperventilation-induced generalized epileptiform discharges','Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0011185','EEG with focal epileptiform discharges','EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0011186','Focal epileptiform discharges with limited propagation to contralateral hemisphere','Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.'),('HP:0011187','Focal EEG discharges with propagation to ipsilateral hemisphere','Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.'),('HP:0011188','Focal EEG discharges with secondary generalization','Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.'),('HP:0011189','Bilateral multifocal epileptiform discharges','Epileptiform discharges being identified at multiple locations in both hemispheres.'),('HP:0011190','Uni- and bilateral multifocal epileptiform discharges','Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.'),('HP:0011191','Unilateral multifocal epileptiform discharges','Epileptiform discharges being identified at multiple locations in one hemisphere.'),('HP:0011192','Polymorphic focal epileptiform discharges','Focal epileptiform discharges of different shapes and frequencies.'),('HP:0011193','EEG with focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec.'),('HP:0011194','EEG with series of focal spikes','Focal spikes occurring for several seconds.'),('HP:0011195','EEG with focal sharp slow waves','EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011196','EEG with focal sharp waves','EEG with focal sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011197','EEG with focal spike waves','EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.'),('HP:0011198','EEG with generalized epileptiform discharges','EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.'),('HP:0011199','EEG with generalized sharp slow waves','EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011200','EEG with generalized polymorphic epileptiform discharges','Generalized epileptiform discharges of different shapes and frequencies.'),('HP:0011201','EEG with changes in voltage','EEG with abnormal amplitude.'),('HP:0011202','EEG with diffuse acceleration','EEG frequency is abnormally increased.'),('HP:0011203','EEG with abnormally slow frequencies','EEG with abnormally slow frequencies.'),('HP:0011204','EEG with continuous slow activity','EEG showing diffuse slowing without interruption.'),('HP:0011205','EEG with intermittent slow activity','Non-continuous diffuse slowing of electroencephalographic patterns.'),('HP:0011206','EEG with generalized slow activity grade 1','Slowing at frequencies between 7.5 and 8.5 Hz.'),('HP:0011207','EEG with generalized slow activity grade 2','Generalized slowing of EEG activity at frequencies between 4-7 Hz.'),('HP:0011208','EEG with generalized slow activity grade 3','Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.'),('HP:0011209','EEG with generalized slow activity grade 4','EEG without electrical activity.'),('HP:0011210','EEG with occipital slowing','Slowing in occipital areas of the scalp EEG.'),('HP:0011211','EEG with photoparoxysmal response grade I','Occurrence of epileptiform discharges in occipital regions during photic stimulation.'),('HP:0011212','EEG with photoparoxysmal response grade II','Occurence of epileptiform discharges in occipital and central regions during photic stimulation.'),('HP:0011213','EEG with photoparoxysmal response grade III','Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.'),('HP:0011214','EEG with photoparoxysmal response grade IV','Occurrence of generalized epileptiform discharges during photic stimulation.'),('HP:0011215','Hemihypsarrhythmia','Hypsarrhythmia occurring in one hemisphere.'),('HP:0011217','Abnormal shape of the occiput','An abnormal shape of occiput.'),('HP:0011218','Abnormal shape of the frontal region','An abnormal shape of the frontal part of the head.'),('HP:0011219','Short face','Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).'),('HP:0011220','Prominent forehead','Forward prominence of the entire forehead, due to protrusion of the frontal bone.'),('HP:0011221','Vertical forehead creases','Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.'),('HP:0011222','Depressed glabella','Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.'),('HP:0011223','Metopic depression','Linear vertical groove in the midline of the forehead, extending from hairline to glabella.'),('HP:0011224','Ablepharon','Absent eyelids.'),('HP:0011225','Epiblepharon','Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.'),('HP:0011226','Aplasia/Hypoplasia of the eyelid','Absence or underdevelopment of the eyelid.'),('HP:0011227','Elevated C-reactive protein level','An abnormal elevation of the C-reactive protein level in serum.'),('HP:0011228','Horizontal eyebrow','An eyebrow that extends straight across the brow, without curve.'),('HP:0011229','Broad eyebrow','Regional increase in the width (height) of the eyebrow.'),('HP:0011230','Laterally extended eyebrow','An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.'),('HP:0011231','Prominent eyelashes','Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.'),('HP:0011232','Infra-orbital fold','Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.'),('HP:0011233','Antihelical shelf','Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.'),('HP:0011234','Absent antihelix','No discernible ridge between concha and triangular fossa and helix.'),('HP:0011235','Additional crus of antihelix','Supernumerary ridge or crus of the ear arising from the antihelix.'),('HP:0011236','Angulated antihelix','Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.'),('HP:0011237','Broad inferior crus of antihelix','Increased width of the inferred cross-section of the inferior crus.'),('HP:0011238','Prominent inferior crus of antihelix','Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.'),('HP:0011239','Underdeveloped inferior crus of antihelix','Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.'),('HP:0011240','Prominent stem of antihelix','Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.'),('HP:0011241','Serpiginous stem of antihelix','Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.'),('HP:0011242','Underdeveloped stem of antihelix','Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.'),('HP:0011243','Abnormality of inferior crus of antihelix','An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.'),('HP:0011244','Abnormality of stem of antihelix','An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.'),('HP:0011245','Abnormality of superior crus of antihelix','An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.'),('HP:0011246','Underdeveloped superior crus of antihelix','Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.'),('HP:0011247','Prominent superior crus of antihelix','Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.'),('HP:0011248','Everted antitragus','Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).'),('HP:0011249','Absent antitragus','Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.'),('HP:0011250','Bifid antitragus','Double rather than single peak of the antitragus.'),('HP:0011251','Underdeveloped antitragus','Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.'),('HP:0011252','Cryptotia','Invagination of the superior part of the auricle under a fold of temporal skin.'),('HP:0011253','Type I cryptotia','A type of cryptotia associated with reduction in size of the antihelix and superior crus.'),('HP:0011254','Type II cryptotia','A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.'),('HP:0011255','Absent crus of helix','Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.'),('HP:0011256','Crus of helix connected to antihelix','Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.'),('HP:0011257','Serpiginous crus of helix','Curving course of the crus of the helix, approaching or joining the antitragus.'),('HP:0011258','Tragal bridge of crus of helix','The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.'),('HP:0011259','Expanded terminal portion of crus of helix','Widening, rather than tapering, of the crus at its posterior border near the antihelix.'),('HP:0011260','Darwin notch of helix','Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.'),('HP:0011261','Darwin tubercle of helix','Small expansion of the helical fold at the junction of the superior and descending portions of the helix.'),('HP:0011262','Crimped helix','Linear, circumferential indentation in the convexity of the outer surface of the helix.'),('HP:0011263','Forward facing earlobe','Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.'),('HP:0011264','Discontinuous ascending root of helix','Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.'),('HP:0011265','Cleft earlobe','Discontinuity in the convexity of the inferior margin of the lobe.'),('HP:0011266','Microtia, first degree','Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.'),('HP:0011267','Microtia, third degree','Presence of some auricular structures, but none of these structures conform to recognized ear components.'),('HP:0011268','Absent tragus','Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.'),('HP:0011269','Bifid tragus','Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.'),('HP:0011270','Duplicated tragus','A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.'),('HP:0011271','Prominent tragus','Increase posterolateral protrusion of the tragus.'),('HP:0011272','Underdeveloped tragus','Decreased posterolateral protrusion of the tragus.'),('HP:0011273','Anisocytosis','Abnormally increased variability in the size of erythrocytes.'),('HP:0011274','Recurrent mycobacterial infections','Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.'),('HP:0011275','Recurrent mycobacterium avium complex infections','Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.'),('HP:0011276','Vascular skin abnormality',''),('HP:0011277','Abnormality of the urinary system physiology',''),('HP:0011278','Intrapulmonary sequestration','A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.'),('HP:0011279','Abnormality of urine bicarbonate concentration','An abnormality of the concentration of hydrogencarbonate in the urine.'),('HP:0011280','Abnormality of urine calcium concentration','An abnormality of calcium concentration in the urine.'),('HP:0011281','Abnormality of urine catecholamine concentration','An abnormal level of urinary catecholamine concentration.'),('HP:0011282','Abnormality of hindbrain morphology','An abnormality of the hindbrain, also known as the rhombencephalon.'),('HP:0011283','Abnormality of the metencephalon','An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.'),('HP:0011284','Short-segment aganglionic megacolon','A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.'),('HP:0011285','Long-segment aganglionic megacolon','A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.'),('HP:0011286','Total colonic aganglionosis','A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.'),('HP:0011287','EEG with occipital sharp slow waves','EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011288','EEG with parietal sharp slow waves','EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011289','EEG with temporal sharp slow waves','EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011290','EEG with frontal sharp slow waves','EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011291','EEG with central sharp slow waves','EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011292','EEG with occipital sharp waves','EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011293','EEG with central sharp waves','EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011294','EEG with frontal sharp waves','EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011295','EEG with parietal sharp waves','EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011296','EEG with temporal sharp waves','EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011297','Abnormal digit morphology','A morphological abnormality of a digit, i.e., of a finger or toe.'),('HP:0011298','Prominent digit pad','A soft tissue prominence of the ventral aspects of the fingertips or toe tips.'),('HP:0011299','Partial absence of finger','The absence of a phalangeal segment of a finger.'),('HP:0011300','Broad fingertip','Increased width of the distal segment of a finger.'),('HP:0011301','Absent foot','The total absence of the foot, with no bony elements distal to the tibia or fibula.'),('HP:0011302','Long palm','For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.'),('HP:0011303','Convex contour of sole','The contour of the foot in lateral profile has a convex shape.'),('HP:0011304','Broad thumb','Increased thumb width without increased dorso-ventral dimension.'),('HP:0011305','Partial absence of toe','The absence of a phalangeal segment of a toe or hallux.'),('HP:0011307','Splayed toes','Divergence of digits along the anteroposterior axis (in the plane of the sole).'),('HP:0011308','Slender toe','Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.'),('HP:0011309','Tapered toe','The gradual reduction in girth of the toe from proximal to distal.'),('HP:0011310','Bridged palmar crease','A crease that connects the proximal and distal transverse palmar creases.'),('HP:0011311','Sydney crease','Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.'),('HP:0011312','Fused nails','A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.'),('HP:0011313','Narrow nail','Decreased width of nail.'),('HP:0011314','Abnormality of long bone morphology','An abnormality of size or shape of the long bones.'),('HP:0011315','Unicoronal synostosis','Synostosis affecting only one of the coronal sutures.'),('HP:0011316','Left unicoronal synostosis','Synostosis affecting only the left coronal suture.'),('HP:0011317','Right unicoronal synostosis','Unicoronal synostosis affecting only the right coronal suture.'),('HP:0011318','Bicoronal synostosis','Synostosis affecting the right and the left coronal suture.'),('HP:0011319','Bilambdoid synostosis','Premature synostosis of both lambdoid sutures.'),('HP:0011320','Unilambdoid synostosis','Premature synostosis of only one lambdoid suture.'),('HP:0011321','Left unilambdoid synostosis','Premature synostosis of only the left lambdoid suture.'),('HP:0011322','Right unilambdoid synostosis','Premature synostosis of only the right lambdoid suture.'),('HP:0011323','Cleft of chin','Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.'),('HP:0011324','Multiple suture craniosynostosis','Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.'),('HP:0011325','Pansynostosis','Craniosynostosis of all calvarial sutures.'),('HP:0011326','Anterior plagiocephaly','Asymmetry of the anterior part of the skull.'),('HP:0011327','Posterior plagiocephaly','Asymmetry of the posterior part of the skull.'),('HP:0011328','Abnormality of fontanelles','An abnormality of the fontanelle.'),('HP:0011329','Abnormality of cranial sutures','Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.'),('HP:0011330','Metopic synostosis','Premature fusion of the metopic suture.'),('HP:0011331','Hemifacial atrophy','Unilateral atrophy of facial tissues, including muscles, bones and skin.'),('HP:0011332','Hemifacial hypoplasia','Unilateral underdevelopment of the facial tissues, including muscles and bones.'),('HP:0011333','Asymmetric crying face','Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.'),('HP:0011334','Facial shape deformation',''),('HP:0011335','Frontal hirsutism','Excessive amount of hair growth on forehead.'),('HP:0011336','Bitemporal forceps marks','Bilateral temporal scarlike defects, which are said to resemble forceps marks.'),('HP:0011337','Abnormality of mouth size',''),('HP:0011338','Abnormality of mouth shape','An abnormality of the outline, configuration, or contour of the mouth.'),('HP:0011339','Abnormality of upper lip vermillion','An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.'),('HP:0011340','Incomplete cleft of the upper lip','A subtle unilateral cleft of the upper lip, which may appear as a small indentation.'),('HP:0011341','Long upper lip','Increased width of the upper lip.'),('HP:0011342','Mild global developmental delay','A mild delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0011343','Moderate global developmental delay','A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0011344','Severe global developmental delay','A severe delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0011345','Moderate expressive language delay','A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0011346','Mild expressive language delay','A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0011347','Abnormality of ocular abduction','An abnormality involving the movement of the eye outwards.'),('HP:0011348','Abnormality of the sixth cranial nerve','An abnormality of the abducens nerve.'),('HP:0011349','Abducens palsy','Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward.'),('HP:0011350','Mild receptive language delay','A mild delay in the acquisition of the ability to understand the speech of others.'),('HP:0011351','Moderate receptive language delay','A moderate delay in the acquisition of the ability to understand the speech of others.'),('HP:0011352','Severe receptive language delay','A severe delay in the acquisition of the ability to understand the speech of others.'),('HP:0011353','Arterial intimal fibrosis','Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.'),('HP:0011354','Generalized abnormality of skin','An abnormality of the skin that is not localized to any one particular region.'),('HP:0011355','Localized skin lesion','A lesion of the skin that is located in a specific region rather than being generalized.'),('HP:0011356','Regional abnormality of skin','An abnormality of the skin that is restricted to a particular body region.'),('HP:0011357','obsolete Abnormality of hair density',''),('HP:0011358','Generalized hypopigmentation of hair','Reduced pigmentation of hair diffusely.'),('HP:0011359','Dry hair','Hair that lacks the lustre (shine or gleam) of normal hair.'),('HP:0011360','Acquired abnormal hair pattern','An abnormality of the distribution of hair growth that is acquired during the course of life.'),('HP:0011361','Congenital abnormal hair pattern','A congenital abnormality of the distribution of hair growth.'),('HP:0011362','Abnormal hair quantity','An abnormal amount of hair.'),('HP:0011363','Abnormality of hair growth rate','Hair whose growth rate deviates from the norm.'),('HP:0011364','White hair','Hypopigmented hair that appears white.'),('HP:0011365','Patchy hypopigmentation of hair','Reduced pigmentation of hair in patches.'),('HP:0011367','Yellow nails','Yellowish discoloration of the nails.'),('HP:0011368','Epidermal thickening','Thickening of the epidermal layer of the skin.'),('HP:0011369','Mongolian blue spot','Congenital deep dermal melanosis in the sacral area.'),('HP:0011370','Recurrent cutaneous fungal infections','Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.'),('HP:0011371','Recurrent viral skin infections','Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.'),('HP:0011372','Aplasia of the inner ear','Absence of the inner ear due to a developmental defect.'),('HP:0011373','Incomplete partition of the cochlea','Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.'),('HP:0011374','Incomplete partition of the cochlea type I','Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.'),('HP:0011375','Cochlear aplasia','Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.'),('HP:0011376','Morphological abnormality of the vestibule of the inner ear','A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.'),('HP:0011377','Aplasia of the vestibule','Complete absence of the vestibule of the inner ear.'),('HP:0011378','Hypoplasia of the vestibule of the inner ear','Underdevelopment of the vestibule of the inner ear.'),('HP:0011379','Dilated vestibule of the inner ear','Dilatation of the vestibule of the inner ear.'),('HP:0011380','Morphological abnormality of the semicircular canal','An abnormality of the morphology of the semicircular canal.'),('HP:0011381','Aplasia of the semicircular canal','Absence of the semicircular canal.'),('HP:0011382','Hypoplasia of the semicircular canal','Underdevelopment of the semicircular canal.'),('HP:0011383','Enlarged semicircular canal','Increased size of the semicircular canal.'),('HP:0011384','Abnormality of the internal auditory canal','An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.'),('HP:0011385','Absent internal auditory canal','Aplasia of the internal auditory canal.'),('HP:0011386','Narrow internal auditory canal','Reduction in diameter of the internal auditory canal.'),('HP:0011387','Enlarged vestibular aqueduct','Increased size of the vestibular aqueduct.'),('HP:0011388','Enlarged cochlear aqueduct','Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.'),('HP:0011389','Functional abnormality of the inner ear','An abnormality of the function of the inner ear.'),('HP:0011390','Morphological abnormality of the inner ear','A structural anomaly of the internal part of the ear.'),('HP:0011391','Morphological abnormality of the nerves of the inner ear',''),('HP:0011392','Abnormality of the vestibular nerve',''),('HP:0011393','Aplasia of the vestibular nerve.','Absence of the vestibular nerve'),('HP:0011394','Hypoplasia of the vestibular nerve','Underdevelopment of the vestibular nerve.'),('HP:0011395','Aplasia/Hypoplasia of the cochlea','Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.'),('HP:0011396','Abnormality of the cochlear nerve',''),('HP:0011397','Abnormality of the dorsal column of the spinal cord','An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.'),('HP:0011398','Central hypotonia','Reduced muscle tone secondary to an abnormality of the central nervous system.'),('HP:0011399','Tibialis atrophy','Atrophy of the tibialis muscle.'),('HP:0011400','Abnormal CNS myelination','An abnormality of myelination of nerves in the central nervous system.'),('HP:0011401','Delayed peripheral myelination','Delayed myelination in the peripheral nervous system.'),('HP:0011402','Demyelinating sensory neuropathy','Demyelination of peripheral sensory nerves.'),('HP:0011403','Abnormal umbilical cord blood vessels',''),('HP:0011404','Lethal short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.'),('HP:0011405','Childhood onset short-limb short stature',''),('HP:0011406','Infancy onset short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.'),('HP:0011407','Proportionate tall stature',''),('HP:0011408','Moderate intrauterine growth retardation','Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.'),('HP:0011409','Abnormality of placental membranes',''),('HP:0011410','Caesarian section','Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).'),('HP:0011411','Forceps delivery',''),('HP:0011412','Ventouse delivery','Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.'),('HP:0011413','Shoulder dystocia','Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.'),('HP:0011414','Hydropic placenta','An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.'),('HP:0011415','Calcified placenta',''),('HP:0011416','Placental infarction',''),('HP:0011417','Long umbilical cord','Increased length of the umbilical cord.'),('HP:0011418','Abnormal insertion of umbilical cord',''),('HP:0011419','Placental abruption','Separation of the placenta from the uterus wall before delivery.'),('HP:0011420','Age of death','The age group when the cessation of life happens.'),('HP:0011421','Death in adolescence','Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).'),('HP:0011422','Abnormal blood chloride concentration','An abnormality of chloride homeostasis or concentration in the body.'),('HP:0011423','Hyperchloremia','An abnormally increased chloride concentration in the blood.'),('HP:0011424','Increased serum zinc','An increased consentration of zinc in the blood.'),('HP:0011425','Fetal ultrasound soft marker','An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.'),('HP:0011426','Fetal choroid plexus cysts','Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).'),('HP:0011427','Enlarged fetal cisterna magna','The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).'),('HP:0011428','Short fetal femur length','A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).'),('HP:0011429','Short fetal humerus length','A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).'),('HP:0011430','Hypoplasia of fetal nasal bone','On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).'),('HP:0011431','Fetal fifth finger clinodactyly','Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).'),('HP:0011432','High maternal serum alpha-fetoprotein','An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.'),('HP:0011433','High maternal serum chorionic gonadotropin','An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.'),('HP:0011434','Low maternal serum chorionic gonadotropin','An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.'),('HP:0011435','Low maternal serum PAPP-A','An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.'),('HP:0011436','Abnormal maternal serum screening','An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.'),('HP:0011437','Maternal autoimmune disease','A medical history of a fetus or child born to a mother with an autoimmune disease.'),('HP:0011438','Maternal teratogenic exposure','A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.'),('HP:0011439','Anesthetic-induced rhabdomylosis','Rhabdomyolysis induced by anesthesia.'),('HP:0011440','Alcohol-induced rhabdomyolysis','Rhabdomyolysis induced by intake of alcohol.'),('HP:0011441','Abnormality of the medulla oblongata','An abnormality of the medulla oblongata, the lower half of the brainstem.'),('HP:0011442','Abnormal central motor function','An anomaly of the control or production of movement in the central nervous system.'),('HP:0011443','Abnormality of coordination',''),('HP:0011444','Decorticate rigidity','A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.'),('HP:0011445','Athetoid cerebral palsy','A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.'),('HP:0011446','Abnormality of higher mental function','Cognitive, psychiatric or memory anomaly.'),('HP:0011447','Hyposegmentation of neutrophil nuclei','Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.'),('HP:0011448','Ankle clonus','Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.'),('HP:0011449','Knee clonus','Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.'),('HP:0011450','Unusual CNS infection','A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.'),('HP:0011451','Congenital microcephaly','Head circumference below 2 standard deviations below the mean for age and gender at birth.'),('HP:0011452','Functional abnormality of the middle ear','An abnormality of the function of the middle ear.'),('HP:0011453','Abnormality of the incus','An abnormality of the incus, an ossicle in the middle ear.'),('HP:0011454','Abnormality of the malleus','An abnormality of the malleus, an ossicle in the middle ear.'),('HP:0011455','Absent malleus','Aplasia of the malleus.'),('HP:0011456','Absent stapes','Aplasia of the stapes.'),('HP:0011457','Loss of eyelashes','This term refers to the loss of eyelashes that were previously present.'),('HP:0011458','Abdominal symptom',''),('HP:0011459','Esophageal carcinoma','The presence of a carcinoma of the esophagus.'),('HP:0011460','Embryonal onset','Onset of disease at up to 8 weeks of gestation.'),('HP:0011461','Fetal onset','Onset prior to birth but after 8 weeks of gestation.'),('HP:0011462','Young adult onset','Onset of disease at the age of between 16 and 40 years.'),('HP:0011463','Childhood onset','Onset of disease at the age of between 1 and 5 years.'),('HP:0011464','Aganglionosis of the small intestine','A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.'),('HP:0011465','Duodenal aganglionosis','A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.'),('HP:0011466','Aplasia/Hypoplasia of the gallbladder','Absence or underdevelopment of the gallbladder.'),('HP:0011467','Absent gallbladder','A developmental defect in which the gallbladder fails to form.'),('HP:0011468','Facial tics','Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.'),('HP:0011469','Nasal regurgitation','Regurgitation of milk through the nose.'),('HP:0011470','Nasogastric tube feeding in infancy','Feeding problem necessitating nasogastric tube feeding.'),('HP:0011471','Gastrostomy tube feeding in infancy','Feeding problem necessitating gastrostomy tube feeding.'),('HP:0011472','Abnormality of small intestinal villus morphology',''),('HP:0011473','Villous atrophy','The enteric villi are atrophic or absent.'),('HP:0011474','Childhood onset sensorineural hearing impairment','Sensorineural hearing impairment with childhood onset.'),('HP:0011475','Persistent stapedial artery','Persistence of the stapedial artery, which normally regresses during embryonic life.'),('HP:0011476','Profound sensorineural hearing impairment','Complete loss of hearing related to a sensorineural defect.'),('HP:0011477','Upbeat nystagmus','In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.'),('HP:0011478','True anophthalmia','Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.'),('HP:0011479','Abnormal lacrimal punctum morphology','An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.'),('HP:0011480','Unilateral microphthalmos','A developmental anomaly characterized by abnormal smallness of one eye.'),('HP:0011481','Abnormal lacrimal duct morphology','An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.'),('HP:0011482','Abnormal lacrimal gland morphology','Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.'),('HP:0011483','Anterior synechiae of the anterior chamber','Adhesions between the iris and the cornea.'),('HP:0011484','Posterior synechiae of the anterior chamber','Adhesions between the iris and the lens.'),('HP:0011485','Corneolenticular adhesion','Developmental abnormality in which the lens and cornea are not separated.'),('HP:0011486','Abnormality of corneal thickness','An abnormal anteroposterior thickness of the cornea.'),('HP:0011487','Increased corneal thickness','A increased anteroposterior thickness of the cornea.'),('HP:0011488','Abnormal corneal endothelium morphology','Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.'),('HP:0011489','Abnormal migration of corneal endothelium','Abnormal migration of corneal endothelium.'),('HP:0011490','Abnormal Descemet membrane morphology','Abnormality of Descemet`s membrane, which is the basement membrane of the corneal endothelium.'),('HP:0011491','Reduced number of corneal endothelial cells','A reduction in the number of corneal endothelial cells.'),('HP:0011492','Abnormality of corneal stroma','An abnormality of the stroma of cornea, also known as the substantia propria of cornea.'),('HP:0011493','Central opacification of the cornea','Reduced transparency of the central portion of the corneal stroma.'),('HP:0011494','Generalized opacification of the cornea','Generalized reduced transparency of the stroma of the cornea.'),('HP:0011495','Abnormal corneal epithelium morphology','Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.'),('HP:0011496','Corneal neovascularization','Ingrowth of new blood vessels into the cornea.'),('HP:0011497','Iris neovascularization','New growth of vessels on the surface of the iris.'),('HP:0011498','obsolete Partial aniridia',''),('HP:0011499','Mydriasis','Abnormal dilatation of the iris.'),('HP:0011500','Polycoria','Multiple pupils.'),('HP:0011501','Anterior lenticonus','A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.'),('HP:0011502','Posterior lenticonus','A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.'),('HP:0011503','Aplasia of the fovea','Congenital absence of the fovea.'),('HP:0011504','Bull`s eye maculopathy','Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.'),('HP:0011505','Cystoid macular edema','Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.'),('HP:0011506','Choroidal neovascularization','Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.'),('HP:0011507','Macular flecks','Pale often indistinct lesions of the macula.'),('HP:0011508','Macular hole','A macular hole is a small break in the macula, located in the center of the retina.'),('HP:0011509','Macular hyperpigmentation','Increased amount of pigmentation in the macula lutea.'),('HP:0011510','Drusen','Drusen (singular, `druse`) are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch`s membrane of the eye.'),('HP:0011511','Macular schisis','Splitting of the retina in the macular region.'),('HP:0011512','Hyperpigmentation of the fundus','Increased pigmentation of the fundus'),('HP:0011513','Retinal cavernous angioma','A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a `cluster of grapes` appearance.'),('HP:0011514','Abnormality of binocular vision','An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.'),('HP:0011515','Abnormal stereopsis','Inability to make fine depth discriminations from parallax provided by the two eyes` different positions on the head.'),('HP:0011516','Achromatopsia','A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.'),('HP:0011517','Cone monochromacy','The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.'),('HP:0011518','Dichromacy','Individuals affected by dichromacy possess only two types of cones, instead of three.'),('HP:0011519','Anomalous trichromacy','Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.'),('HP:0011520','Deuteranomaly','A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.'),('HP:0011521','Deuteranopia','Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.'),('HP:0011522','Protanopia','Blue and green cones only; no functional red cones.'),('HP:0011523','Iris cyst','An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.'),('HP:0011524','Iris melanoma','Malignant tumor of melanocytes affecting the iris.'),('HP:0011525','Iris nevus','A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.'),('HP:0011526','Abnormality of lens shape','An abnormal shape of the lens.'),('HP:0011527','Lentiglobus','Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.'),('HP:0011528','Solitary congenital hypertrophy of retinal pigment epithelium','Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.'),('HP:0011529','Multiple bilateral congenital hypertrophy of retinal pigment epithelium','Sharply demarcated hyperpigmentation which is congenital.'),('HP:0011530','Retinal hole','A small break in the retina.'),('HP:0011531','Vitritis','Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.'),('HP:0011532','Subretinal exudate','A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.'),('HP:0011533','Snowflake vitreoretinal degeneration','The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.'),('HP:0011534','Abnormal spatial orientation of the cardiac segments','Abnormality of the spatial relationship of the cardiac segments to other components of the heart.'),('HP:0011535','Abnormal atrial arrangement','Abnormality of the spatial relationship of the atria to other components of the heart.'),('HP:0011536','Right atrial isomerism','Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.'),('HP:0011537','Left atrial isomerism','In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.'),('HP:0011538','Atrial situs inversus','Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.'),('HP:0011539','Atrial situs ambiguous','Common atrium without defining morphologic features.'),('HP:0011540','Congenitally corrected transposition of the great arteries','The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.'),('HP:0011541','Criss-cross atrioventricular valves','Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.'),('HP:0011542','Criss-cross atrioventricular valves with superior-inferior ventricles','Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.'),('HP:0011543','Superior-inferior ventricles without criss-cross atrioventricular valves',''),('HP:0011544','L-looping of the right ventricle',''),('HP:0011545','Abnormal connection of the cardiac segments','A deviance in the normal connections between two cardiac segements.'),('HP:0011546','Abnormal atrioventricular connection','An abnormality of the circulatory connection between atria and ventricles.'),('HP:0011547','Absent left sided atrioventricular connection','A defect where there is no connection between the left atrium and left ventricle.'),('HP:0011548','Absent right sided atrioventricular connection','A defect where there is no connection between the right atrium and right ventricle.'),('HP:0011549','Univentricular heart with absent left sided atrioventricular connection',''),('HP:0011550','Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection',''),('HP:0011551','Right sided atrium to left ventricle and absent left sided atrioventricular connection',''),('HP:0011552','Ambiguous atrioventricular connection','With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).'),('HP:0011553','Discordant atrioventricular connection','Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.'),('HP:0011554','Double inlet atrioventricular connection','The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.'),('HP:0011555','Double inlet left ventricle','The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.'),('HP:0011556','Double inlet right ventricle','The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.'),('HP:0011557','Double inlet to single ventricle of indeterminate morphology','The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.'),('HP:0011558','Double inlet to single ventricle with common atrioventricular orifice',''),('HP:0011559','Double inlet to single ventricle with two atrioventricular valves',''),('HP:0011560','Mitral atresia','A congenital defect with failure to open of the mitral valve orifice.'),('HP:0011561','Overriding atrioventricular valve','An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.'),('HP:0011562','Straddling atrioventricular valve','Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.'),('HP:0011563','Abnormal ventriculoarterial connection','An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.'),('HP:0011564','Mitral valve arcade','Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.'),('HP:0011565','Common atrium','Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.'),('HP:0011566','Cor triatriatum dexter','A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.'),('HP:0011567','Sinus venosus atrial septal defect','An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.'),('HP:0011568','Double orifice mitral valve','The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.'),('HP:0011569','Cleft anterior mitral valve leaflet','Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.'),('HP:0011570','Congenital mitral stenosis','Mitral stenosis with congenital onset.'),('HP:0011571','Parachute mitral valve','Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.'),('HP:0011572','Supramitral ring','A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.'),('HP:0011573','Hypoplastic tricuspid valve','Congenital defect characterized by underdevelopment of the tricuspid valve.'),('HP:0011574','Imperforate atrioventricular valve','An atrioventricular valve that has failed to open (atretic).'),('HP:0011575','Imperforate tricuspid valve','A tricuspid valve that has failed to open.'),('HP:0011576','Intermediate atrioventricular canal defect','A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.'),('HP:0011577','Partial atrioventricular canal defect','A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.'),('HP:0011578','Transitional atrioventricular canal defect','A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.'),('HP:0011579','Unbalanced atrioventricular canal defect','Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).'),('HP:0011580','Short chordae tendineae of the mitral valve','Abnormally short chordae tendineae of the mitral valve.'),('HP:0011581','Double outlet left ventricle','A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.'),('HP:0011582','Abdominal ectopia cordis','Displacement of the heart outside the thoracic cavity and into the abdomen.'),('HP:0011583','Cervical ectopia cordis','A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.'),('HP:0011584','Thoracocervical ectopia cordis','A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.'),('HP:0011585','Thoracic ectopia cordis','Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.'),('HP:0011586','Thoracoabdominal ectopia cordis','Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.'),('HP:0011587','Abnormal branching pattern of the aortic arch','A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.'),('HP:0011588','Cervical aortic arch','The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.'),('HP:0011589','Common origin of the right brachiocephalic artery and left common carotid artery','The left common carotid artery has a common origin with the innominate artery.'),('HP:0011590','Double aortic arch','A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).'),('HP:0011591','Left aortic arch with cervical origin of the right subclavian artery',''),('HP:0011592','Left aortic arch with isolated subclavian artery','The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.'),('HP:0011593','Left aortic arch with retroesophageal diverticulum of Kommerell','A patent ductus arteriosus or ductal ligament completes the ring.'),('HP:0011594','Right aortic arch with retroesophageal diverticulum of Kommerell','Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.'),('HP:0011595','Left aortic arch with retroesophageal right subclavian artery','Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.'),('HP:0011596','Left aortic arch with right descending aorta and right ductus arteriosus','The ring may be completed by the ductal ligament.'),('HP:0011597','Right aortic arch with left descending aorta and left ductus arteriosus',''),('HP:0011598','Right aortic arch with retroesophageal left subclavian artery',''),('HP:0011599','Mesocardia','Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.'),('HP:0011600','Abnormal direction of ventricular apex','Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.'),('HP:0011601','Rightward direction of ventricular apex','Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.'),('HP:0011602','Midline direction of ventricular apex','Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.'),('HP:0011603','Congenital malformation of the great arteries','Defect or defects of the morphogenesis of the aorta and pulmonary arteries.'),('HP:0011604','Aortopulmonary window','A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.'),('HP:0011605','Congenitally corrected transposition of the great arteries with ventricular septal defect','A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.'),('HP:0011606','obsolete Transposition of the great arteries with intact ventricular septum',''),('HP:0011607','obsolete Transposition of the great arteries with ventricular septal defect',''),('HP:0011608','Type II truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.'),('HP:0011609','Type III truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.'),('HP:0011610','Type IV truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.'),('HP:0011611','Interrupted aortic arch','Non-continuity of the arch of aorta with an atretic point or absent segment.'),('HP:0011612','Interrupted aortic arch type A','Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.'),('HP:0011613','Interrupted aortic arch type B','Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.'),('HP:0011614','Interrupted aortic arch type C','Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.'),('HP:0011615','Abnormal pulmonary situs morphology','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.'),('HP:0011616','Pulmonary situs inversus','Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.'),('HP:0011617','Pulmonary situs ambiguus','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.'),('HP:0011618','Pulmonary situs ambiguus with bilateral morphologic right lungs','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.'),('HP:0011619','Pulmonary situs ambiguus with bilateral morphologic left lungs','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.'),('HP:0011620','Abnormality of abdominal situs','An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.'),('HP:0011621','Gerbode ventricular septal defect','A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.'),('HP:0011622','Inlet ventricular septal defect','A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.'),('HP:0011623','Muscular ventricular septal defect','The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.'),('HP:0011624','Apical muscular ventricular septal defect','A muscular ventricular septal defect located at the apex of the heart.'),('HP:0011625','Multiple muscular ventricular septal defects','A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.'),('HP:0011626','Scimitar anomaly','Right pulmonary venous return to the inferior vena cava.'),('HP:0011627','Aorto-ventricular tunnel','Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle.'),('HP:0011628','Congenital defect of the pericardium','A developmental defect of the pericardium with congenital onset.'),('HP:0011629','Total absence of the pericardium','No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.'),('HP:0011630','Complete diaphragmatic absence of pericardium','No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.'),('HP:0011631','Complete right sided absence of pericardium','No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.'),('HP:0011632','Partial right sided absence of pericardium','A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.'),('HP:0011633','Complete left sided absence of pericardium','A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.'),('HP:0011634','Partial left sided absence of pericardium','A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.'),('HP:0011635','Partial diaphragmatic absence of pericardium','Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.'),('HP:0011636','Abnormal coronary artery origin','Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.'),('HP:0011637','Anomalous origin of coronary artery from the pulmonary artery','A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.'),('HP:0011638','Anomalous origin of left coronary artery from the pulmonary artery','Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.'),('HP:0011639','Anomalous origin of right coronary artery from the pulmonary artery','Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.'),('HP:0011640','Single coronary artery origin','The presence of a single coronary artery ostium from which both coronary arteries arise.'),('HP:0011641','Coronary artery fistula','A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.'),('HP:0011642','Abnormal coronary sinus morphology','An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.'),('HP:0011643','Coronary sinus atrial septal defect','An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.'),('HP:0011644','Coronary sinus diverticulum','A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.'),('HP:0011645','Dilatation of the sinus of Valsalva','Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.'),('HP:0011646','Juxtaductal coarctation of the aorta','Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.'),('HP:0011647','Postductal coarctation of the aorta','Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.'),('HP:0011648','Patent ductus arteriosus after birth at term','Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.'),('HP:0011649','Patent ductus arteriosus after premature birth','Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.'),('HP:0011650','Bilateral ductus arteriosus','The presence of both a left and a right ductus arteriosus.'),('HP:0011651','Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011652','Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011653','Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011654','Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011655','Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011656','Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011657','Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011658','Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011659','Tetralogy of Fallot with absent pulmonary valve','Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.'),('HP:0011660','Anomalous origin of one pulmonary artery from ascending aorta','Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.'),('HP:0011661','Anomalous origin of left pulmonary artery from ascending aorta','The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.'),('HP:0011662','Tricuspid atresia','Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.'),('HP:0011663','Right ventricular cardiomyopathy','Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.'),('HP:0011664','Left ventricular noncompaction cardiomyopathy','Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.'),('HP:0011665','Takotsubo cardiomyopathy','Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.'),('HP:0011666','Absent right superior vena cava','Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.'),('HP:0011667','Bilateral superior vena cava with bridging vein',''),('HP:0011668','Bilateral superior vena cava with no bridging vein',''),('HP:0011669','Left superior vena cava draining directly to the left atrium','A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.'),('HP:0011670','Left superior vena cava draining to coronary sinus','A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.'),('HP:0011671','Interrupted inferior vena cava with azygous continuation','Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.'),('HP:0011672','Cardiac myxoma','A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber.'),('HP:0011673','Cardiac hemangioma','Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.'),('HP:0011674','Cardiac teratoma','A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.'),('HP:0011675','Arrhythmia','Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.'),('HP:0011676','Tetralogy of Fallot with absent subarterial conus',''),('HP:0011677','Tetralogy of Fallot with atrioventricular canal defect',''),('HP:0011678','Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries','A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).'),('HP:0011679','Tetralogy of Fallot with pulmonary stenosis','The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.'),('HP:0011680','Single ventricle of indeterminate morphology',''),('HP:0011681','Subarterial ventricular septal defect','A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.'),('HP:0011682','Perimembranous ventricular septal defect','A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.'),('HP:0011683','Restrictive ventricular septal defect','Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.'),('HP:0011684','Non-restrictive ventricular septal defect','Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.'),('HP:0011685','Infra-aortic superior vena cava','The superior vena cava passes below the aortic arch.'),('HP:0011686','Abnormal coronary artery course','An abnormal path of a coronary artery.'),('HP:0011687','AV nodal tachycardia','A type of supraventricular tachycardia that originates in the atrioventricular node.'),('HP:0011688','Supraventricular tachycardia with an accessory connection mediated pathway','Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.'),('HP:0011689','Supraventricular tachycardia with a concealed accessory connection','Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.'),('HP:0011690','Permanent junctional reciprocating tachycardia','An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.'),('HP:0011691','Supraventricular tachycardia with a concealed accessory pathway on the left free wall',''),('HP:0011692','Supraventricular tachycardia with a concealed accessory pathway on the right free wall',''),('HP:0011693','Supraventricular tachycardia with a concealed accessory pathway on the septum',''),('HP:0011694','Supraventricular tachycardia with a manifest accessory pathway',''),('HP:0011695','Cerebellar hemorrhage','Hemorrhage into the parenchyma of the cerebellum.'),('HP:0011696','Supraventricular tachycardia with a manifest accessory pathway on the left free wall',''),('HP:0011697','Supraventricular tachycardia with a manifest accessory pathway on the right free wall',''),('HP:0011698','Supraventricular tachycardia with a manifest accessory pathway on the septum',''),('HP:0011699','Atrial reentry tachycardia',''),('HP:0011700','Automatic atrial tachycardia','Chronic supraventricular tachycardia predominantly seen in childhood.'),('HP:0011701','Multifocal atrial tachycardia','Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.'),('HP:0011702','Abnormal electrophysiology of sinoatrial node origin','An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.'),('HP:0011703','Sinus tachycardia','Heart rate of greater than 100 beats per minute.'),('HP:0011704','Sick sinus syndrome','An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.'),('HP:0011705','First degree atrioventricular block','Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.'),('HP:0011706','Second degree atrioventricular block','An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.'),('HP:0011707','Mobitz I atrioventricular block','Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).'),('HP:0011708','Mobitz II atrioventricular block','A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.'),('HP:0011709','Atrioventricular dissociation','Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.'),('HP:0011710','Bundle branch block','Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.'),('HP:0011711','Left anterior fascicular block','Conduction block in the anterior division of the left bundle branch of the bundle of His.'),('HP:0011712','Right bundle branch block','A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.'),('HP:0011713','Left bundle branch block','A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.'),('HP:0011714','Libman-Sacks lesions','Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.'),('HP:0011715','Trifascicular block','Abnormal conduction in all three divisions of the intraventricular conducting tissue.'),('HP:0011716','Junctional ectopic tachycardia','Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.'),('HP:0011717','Atrioventricular reentrant tachycardia','Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.'),('HP:0011718','Abnormality of the pulmonary veins','An abnormality of the pulmonary veins.'),('HP:0011719','Supracardiac total anomalous pulmonary venous connection','Type 1 total anomalous pulmonary venous connection.'),('HP:0011720','Cardiac total anomalous pulmonary venous connection','Type 2 total anomalous pulmonary venous connection.'),('HP:0011721','Infracardiac total anomalous pulmonary venous connection','Type 3 total anomalous pulmonary venous connection.'),('HP:0011722','Mixed total anomalous pulmonary venous connection','Type 4 total anomalous pulmonary venous connection.'),('HP:0011723','Congenital malformation of the right heart','Defect or defects of the morphogenesis of the right heart identifiable at birth.'),('HP:0011724','Uhl`s anomaly','Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.'),('HP:0011725','Chaotic multifocal atrial tachycardia',''),('HP:0011726','Persistent fetal circulation','Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.'),('HP:0011727','Peroneal muscle weakness','Weakness of the peroneal muscles.'),('HP:0011728','Elbow clonus','Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.'),('HP:0011729','Abnormality of joint mobility','An abnormality in the range and ease of motion of joints across their normal range.'),('HP:0011730','Abnormal central sensory function','An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.'),('HP:0011731','Abnormality of circulating cortisol level','An abnormality of the concentration of cortisol in the blood.'),('HP:0011732','Abnormality of adrenal morphology','Any structural anomaly of the adrenal glands.'),('HP:0011733','Abnormality of adrenal physiology','A functional abnormality of the adrenal glands.'),('HP:0011734','Central adrenal insufficiency','A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.'),('HP:0011735','Adrenocorticotropin deficient adrenal insufficiency','Adrenal insufficiency secondary to a defect in ACTH production.'),('HP:0011736','Primary hyperaldosteronism','A form of hyperaldosteronism caused by a defect within the adrenal gland.'),('HP:0011737','Corticotropin-releasing hormone deficient adrenal insufficiency','Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.'),('HP:0011738','Corticotropin-releasing hormone receptor defect','Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.'),('HP:0011739','Dexamethasone-suppressible primary hyperaldosteronism','A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.'),('HP:0011740','Glucocortocoid-insensitive primary hyperaldosteronism','A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.'),('HP:0011741','Secondary hyperaldosteronism','A form of hyperaldosteronism caused by abnormally increased renin levels.'),('HP:0011742','Ectopic adrenal gland','Abnormal anatomical location of the adrenal gland.'),('HP:0011743','Adrenal gland agenesis','Absent development of the adrenal gland.'),('HP:0011744','Secondary hypercortisolism','Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.'),('HP:0011745','Non-secretory adrenocortical adenoma','An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.'),('HP:0011746','Secretory adrenocortical adenoma','An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.'),('HP:0011747','Abnormality of the anterior pituitary','An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.'),('HP:0011748','Adrenocorticotropic hormone deficiency','A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.'),('HP:0011749','Adrenocorticotropic hormone excess','Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.'),('HP:0011750','Neoplasm of the anterior pituitary','A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.'),('HP:0011751','Abnormality of the posterior pituitary','An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.'),('HP:0011752','Neoplasm of the posterior pituitary','The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.'),('HP:0011753','Posterior pituitary dysgenesis','Abnormal development of the neurohypophysis during embryonic growth and development.'),('HP:0011754','Pituicytoma','A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.'),('HP:0011755','Ectopic posterior pituitary','An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.'),('HP:0011756','Posterior pituitary agenesis','Absence of the neurohypophysis owing to a developmental defect.'),('HP:0011757','Posterior pituitary hypoplasia','Underdevelopment of the neurohypophysis.'),('HP:0011758','Pituitary acidophilic stem cell adenoma',''),('HP:0011759','Pituitary gonadotropic cell adenoma','A type of pituitary adenoma that produces gonadotropins.'),('HP:0011760','Pituitary growth hormone cell adenoma','A type of pituitary adenoma that produces growth hormone.'),('HP:0011761','Pituitary null cell adenoma','A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.'),('HP:0011762','Pituitary thyrotropic cell adenoma','A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).'),('HP:0011763','Pituitary carcinoma','A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.'),('HP:0011764','Pituitary spindle cell oncocytoma','A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.'),('HP:0011765','obsolete Ectopic anterior pituitary',''),('HP:0011766','Abnormality of the parathyroid morphology','A structural abnormality of the parathyroid gland.'),('HP:0011767','Abnormality of the parathyroid physiology','A functional abnormality of the parathyroid gland.'),('HP:0011768','Parathyroid dysgenesis','Abnormal embryonic development of the parathyroid gland.'),('HP:0011769','Ectopic parathyroid','An abnormal anatomical location of the parathyroid gland.'),('HP:0011770','Tertiary hyperparathyroidism','A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.'),('HP:0011771','Autoimmune hypoparathyroidism','A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.'),('HP:0011772','Abnormality of thyroid morphology','A structural abnormality of the thyroid gland.'),('HP:0011773','Uninodular goiter','Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.'),('HP:0011774','Thyroid follicular adenoma',''),('HP:0011775','Thyroid macrofollicular adenoma',''),('HP:0011776','Thyroid microfollicular adenoma',''),('HP:0011777','Thyroid papillary adenoma',''),('HP:0011778','Thyroid atypical adenoma',''),('HP:0011779','Anaplastic thyroid carcinoma',''),('HP:0011780','Thyroid hemiagenesis','Absence of a lobe of the thyroid gland related to a failure of its embryologic development.'),('HP:0011781','Thyroid C cell hyperplasia','An abnormal growth of parafollicular (C-cells) cells.'),('HP:0011782','Thyroid crisis',''),('HP:0011783','Thyrotoxicosis from ectopic thyroid tissue',''),('HP:0011784','Thyrotoxicosis with diffuse goiter',''),('HP:0011785','Thyrotoxicosis with toxic multinodular goiter',''),('HP:0011786','Thyrotoxicosis with toxic single thyroid nodule',''),('HP:0011787','Central hypothyroidism','A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.'),('HP:0011788','Increased circulating free T3','An elevated concentration of free 3,3`,5-triiodo-L-thyronine in the blood circulation.'),('HP:0011789','Impaired sensitivity to thyroid stimulating hormone','Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).'),('HP:0011790','Activating thyroid-stimulating hormone receptor defect','Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.'),('HP:0011791','Inactivating thyroid-stimulating hormone receptor defect','Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.'),('HP:0011792','Neoplasm by histology','Neoplasm categorized according to type of histological abnormality.'),('HP:0011793','Neoplasm by anatomical site','Neoplasm categorized according to the anatomical site of origin of the neoplasm.'),('HP:0011794','Embryonal renal neoplasm','The presence of an embryonal neoplasm of the kidney that primarily affects children.'),('HP:0011795','Intralobar nephroblastomatosis','Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).'),('HP:0011796','Perilobar nephroblastomatosis','Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).'),('HP:0011797','Papillary renal cell carcinoma type 1','A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.'),('HP:0011798','Renal oncocytoma','A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.'),('HP:0011799','Abnormality of facial soft tissue',''),('HP:0011800','Midface retrusion','Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.'),('HP:0011801','Enlargement of parotid gland','Increased size of the parotid gland.'),('HP:0011802','Hamartoma of tongue','A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.'),('HP:0011803','Bifid nose','Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.'),('HP:0011804','Abnormal muscle physiology','A functional abnormality of a skeletal muscle.'),('HP:0011805','Abnormal skeletal muscle morphology','A structural abnormality of a skeletal muscle.'),('HP:0011807','Type 1 muscle fiber atrophy','Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.'),('HP:0011808','Decreased patellar reflex','Decreased intensity of the patellar reflex (also known as the knee jerk reflex).'),('HP:0011809','Paradoxical myotonia','A type of myotonia that worsens with repeated muscle contractions.'),('HP:0011810','Impaired two-point discrimination','A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.'),('HP:0011811','Impaired touch localization','A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.'),('HP:0011812','Agraphesthesia','Impaired ability to recognize letters or numbers drawn by an examiner`s fingertip on the patient`s skin (the patients eyes are closed or covered throughout this examination).'),('HP:0011813','Increased cerebral lipofuscin','Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.'),('HP:0011814','Increased urinary hypoxanthine','An increased level of hypoxanthine in the urine.'),('HP:0011815','Cephalocele','A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.'),('HP:0011816','Parietal encephalocele','An encephalocele located between bregma and lambda.'),('HP:0011817','Basal encephalocele','Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.'),('HP:0011818','Nasofrontal encephalocele',''),('HP:0011819','Submucous cleft soft palate','A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.'),('HP:0011820','Membranous choanal atresia','Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.'),('HP:0011821','Abnormality of facial skeleton','An abnormality of one or more of the set of bones that make up the facial skeleton.'),('HP:0011822','Broad chin','Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.'),('HP:0011823','Chin with horizontal crease','Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.'),('HP:0011824','Chin with H-shaped crease','H-shaped crease in the fat pad of the chin.'),('HP:0011825','Tented philtrum','Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.'),('HP:0011826','Philtrum with midline raphe','Narrow ridge in the midline of the philtral groove.'),('HP:0011827','Malaligned philtral ridges','Absence of the usual parallel position of philtral ridges.'),('HP:0011828','Midline sinus of philtrum','Pit in the midline of the philtral groove.'),('HP:0011829','Narrow philtrum','Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.'),('HP:0011830','Abnormal oral mucosa morphology','Abnormality of the oral mucosa.'),('HP:0011831','Deviated nasal tip','Nasal tip positioned to one side of the midline.'),('HP:0011832','Narrow nasal tip','Decrease in width of the nasal tip.'),('HP:0011833','Overhanging nasal tip','Positioning of the nasal tip inferior to the nasal base.'),('HP:0011834','Moyamoya phenomenon','A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.'),('HP:0011835','Absent scaphoid','Congenital absence of the scaphoid..'),('HP:0011836','Delayed talus ossification','Delayed maturation and calcification of the talus.'),('HP:0011837','Partial IgA deficiency','Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.'),('HP:0011838','Sclerodactyly','Localized thickening and tightness of the skin of the fingers or toes.'),('HP:0011839','Abnormal T cell count','A deviation from the normal count of T cells.'),('HP:0011840','Abnormality of T cell physiology','A functional anomaly of T cells.'),('HP:0011841','Ventricular flutter','A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.'),('HP:0011842','Abnormality of skeletal morphology','An abnormality of the form, structure, or size of the skeletal system.'),('HP:0011843','Abnormality of skeletal physiology','An abnormality of the function of the skeletal system.'),('HP:0011844','Abnormal appendicular skeleton morphology','An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.'),('HP:0011845','Short second metatarsal','Short (hypoplastic) second metatarsal bone.'),('HP:0011846','Osteoblastoma','A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.'),('HP:0011847','Giant cell tumor of bone','A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.'),('HP:0011848','Abdominal colic','A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.'),('HP:0011849','Abnormal bone ossification','Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.'),('HP:0011850','Parotitis','Inflammation of the parotid gland.'),('HP:0011851','Hemopericardium','Accumulation of blood within the pericardial sac.'),('HP:0011852','Chylopericardium','Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.'),('HP:0011853','Serous pericardial effusion','Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.'),('HP:0011854','Hemoperitoneum','Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.'),('HP:0011855','Pharyngeal edema','Abnormal accumulation of fluid leading to swelling of the pharynx.'),('HP:0011856','Pica','An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.'),('HP:0011857','Plasmacytoma','A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.'),('HP:0011858','Reduced factor IX activity','Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.'),('HP:0011859','Punctate keratitis','A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.'),('HP:0011860','Metaphyseal dappling','The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.'),('HP:0011861','Bilateral trilobed lungs','Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.'),('HP:0011862','Abnormal bone collagen fibril morphology','Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.'),('HP:0011863','Abnormal sternal ossification','Any anomaly in the formation of the bony substance of the sternum.'),('HP:0011864','Elevated plasma pyrophosphate','An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.'),('HP:0011867','Abnormality of the wing of the ilium','An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.'),('HP:0011868','Sciatica','Pain in the lower back and hip radiating in the distribution of the sciatic nerve.'),('HP:0011869','Abnormal platelet function','Any anomaly in the function of thrombocytes.'),('HP:0011870','Impaired arachidonic acid-induced platelet aggregation','Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.'),('HP:0011871','Impaired ristocetin-induced platelet aggregation','Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.'),('HP:0011872','Impaired thrombin-induced platelet aggregation','Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).'),('HP:0011873','Abnormal platelet count','Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.'),('HP:0011874','Heparin-induced thrombocytopenia','Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.'),('HP:0011875','Abnormal platelet morphology','An anomaly in platelet form, ultrastructure, or intracellular organelles.'),('HP:0011876','Abnormal platelet volume','Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.'),('HP:0011877','Increased mean platelet volume','Average platelet volume above the upper limit of the normal reference interval.'),('HP:0011878','Abnormal platelet membrane protein expression','Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.'),('HP:0011879','Decreased platelet glycoprotein Ib-IX-V','Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.'),('HP:0011880','Acute disseminated intravascular coagulation','An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.'),('HP:0011881','Decreased platelet glycoprotein VI','Decreased cell membrane concentration of glycoprotein VI.'),('HP:0011882','Decreased platelet P2Y12 receptor','Decreased cell membrane concentration of P2Y12 receptor.'),('HP:0011883','Abnormal platelet granules','An anomaly of alpha or dense granules or platelet lysosomes.'),('HP:0011884','Abnormal umbilical stump bleeding','Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.'),('HP:0011885','Hemorrhage of the eye','Bleeding from vessels of the various tissues of the eye.'),('HP:0011886','Hyphema','Bleeding in the anterior chamber of the eye.'),('HP:0011887','Choroid hemorrhage','Hemorrhage from the vessels of the choroid.'),('HP:0011888','Bleeding requiring red cell transfusion','Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).'),('HP:0011889','Bleeding with minor or no trauma','Significant bleeding or hemorrhage without significant precipitating factor.'),('HP:0011890','Prolonged bleeding following procedure','Prolonged or protracted bleeding following an invasive procedure or intervention.'),('HP:0011891','Post-partum hemorrhage','Significant maternal haemorrhage/blood loss following deilvery of a child.'),('HP:0011892','Low levels of vitamin K','A reduced concentration of vitamin K.'),('HP:0011893','Abnormal leukocyte count','Number of leukocytes per volume of blood beyond normal limits.'),('HP:0011894','Impaired thromboxane A2 agonist-induced platelet aggregation','Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.'),('HP:0011895','Anemia due to reduced life span of red cells','A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.'),('HP:0011896','Subconjunctival hemorrhage','Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.'),('HP:0011897','Neutrophilia','Increased number of neutrophils circulating in blood.'),('HP:0011898','Abnormality of circulating fibrinogen','An abnormality of the level of activity of circulating fibrinogen.'),('HP:0011899','Hyperfibrinogenemia','Increased concentration of fibrinogen in the blood.'),('HP:0011900','Hypofibrinogenemia','Decreased concentration of fibrinogen in the blood.'),('HP:0011901','Dysfibrinogenemia','Qualitatively abnormal fibrinogen.'),('HP:0011902','Abnormal hemoglobin','Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.'),('HP:0011903','HbH hemoglobin','Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.'),('HP:0011904','Persistence of hemoglobin F','Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.'),('HP:0011905','Reduced hemoglobin A','Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.'),('HP:0011906','Reduced beta/alpha synthesis ratio','A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.'),('HP:0011907','Reduced alpha/beta synthesis ratio','A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.'),('HP:0011908','Unilateral radial aplasia','Missing radius bone on one side only associated with congenital failure of development.'),('HP:0011909','Flattened metacarpal heads','Abnormally flat shape of the heads of the metacarpal bones.'),('HP:0011910','Shortening of all phalanges of fingers','Abnormal reduction in length affecting all phalanges.'),('HP:0011911','Abnormality of metacarpophalangeal joint','An anomaly of a metacarpophalangeal joint.'),('HP:0011912','Abnormality of the glenoid fossa','An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.'),('HP:0011913','Lumbar hypertrichosis','Excessive, increased hair growth located in the lumbar region.'),('HP:0011914','Thoracic hypertrichosis','Excessive, increased hair growth located in the thoracic region.'),('HP:0011915','Cardiovascular calcification','Abnormal calcification in the cardiovascular system.'),('HP:0011916','Toe extensor amyotrophy','Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.'),('HP:0011917','Short 5th toe','Underdevelopment (hypoplasia) of the fifth toe.'),('HP:0011918','Clinodactyly of the 4th toe','Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).'),('HP:0011919','Pleural empyema','Accumulation of pus in the pleural cavity.'),('HP:0011920','Transudative pleural effusion','A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light`s criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.'),('HP:0011921','Exudative pleural effusion','A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light`s criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.'),('HP:0011922','Abnormal activity of mitochondrial respiratory chain','An increased or decreased activity of the mitochondrial respiratory chain.'),('HP:0011923','Decreased activity of mitochondrial complex I','A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.'),('HP:0011924','Decreased activity of mitochondrial complex III','A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.'),('HP:0011925','Decreased activity of mitochondrial ATP synthase complex','A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.'),('HP:0011926','Proximal placement of hallux','Proximal mislocalization of the big toe from its normal position.'),('HP:0011927','Short digit','One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.'),('HP:0011928','Short proximal phalanx of toe','Developmental hypoplasia (shortening) of proximal phalanx of toe.'),('HP:0011929','Hypersegmentation of proximal phalanx of third finger','Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.'),('HP:0011930','Hyperextensible skin of chest',''),('HP:0011931','Abnormality of the cerebellar peduncle','An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.'),('HP:0011932','Abnormality of the superior cerebellar peduncle','An anomaly of the superior cerebellar peduncle.'),('HP:0011933','Elongated superior cerebellar peduncle','Increased length of the superior cerebellar peduncle.'),('HP:0011934','Dilatation of mesenteric artery','Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .'),('HP:0011935','Decreased urinary urate','Decreased concentration of urate in the urine.'),('HP:0011936','Decreased plasma total carnitine','A decreased concentration of total carnitine in the blood.'),('HP:0011937','Hypoplastic fifth toenail','Underdeveloped nails of the fifth toes.'),('HP:0011939','3-4 finger cutaneous syndactyly','A soft tissue continuity in the A/P axis between fingers 3 and 4.'),('HP:0011940','Anterior wedging of T12','An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).'),('HP:0011941','Anterior wedging of L2','An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).'),('HP:0011942','Increased urinary sulfite','Increased concentration of SO3(2-), i.e., sulfite, in the urine.'),('HP:0011943','Increased urinary thiosulfate','Increased concentration of thiosulfate(2-) in the urine.'),('HP:0011944','Small vessel vasculitis','A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.'),('HP:0011945','Bronchiolitis obliterans organizing pneumonia','Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.'),('HP:0011946','Bronchiolitis obliterans','Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.'),('HP:0011947','Respiratory tract infection','An infection of the upper or lower respiratory tract.'),('HP:0011948','Recurrent acute respiratory tract infection','A history of repeated acute infections of the upper or lower respiratory tract.'),('HP:0011949','Acute infectious pneumonia','Acute inflammation of the lung due to an infection.'),('HP:0011950','Bronchiolitis','Inflammation of the bronchioles.'),('HP:0011951','Aspiration pneumonia','Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.'),('HP:0011952','Acute aspiration pneumonia','An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.'),('HP:0011953','Pulmonary lymphoma','Lung parenchymal involvement with lymphoma.'),('HP:0011954','Nodular regenerative hyperplasia of liver','Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.'),('HP:0011955','Hepatic granulomatosis','The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.'),('HP:0011956','Intestinal lymphoid nodular hyperplasia','A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.'),('HP:0011957','Abnormal pectoral muscle morphology','An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.'),('HP:0011958','Retinal perforation','A small hole through the whole thickness of the retina.'),('HP:0011959','Unilateral hypoplasia of pectoralis major muscle','Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.'),('HP:0011960','Substantia nigra gliosis','Focal proliferation of glial cells in the substantia nigra.'),('HP:0011961','Non-obstructive azoospermia','Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.'),('HP:0011962','Obstructive azoospermia','Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.'),('HP:0011963','Pretesticular azoospermia','Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.'),('HP:0011964','Intermittent painful muscle spasms','History of repeated intermittent involuntary muscle contractions that were painful.'),('HP:0011965','Abnormal circulating citrulline concentration','Any deviation from the normal concentration of citrulline in the blood circulation.'),('HP:0011966','Elevated plasma citrulline','An increased concentration of citrulline in the blood.'),('HP:0011967','Decreased circulating copper concentration','A reduced concentration of copper in the blood.'),('HP:0011968','Feeding difficulties','Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.'),('HP:0011969','Elevated circulating luteinizing hormone level','An elevated concentration of luteinizing hormone in the blood.'),('HP:0011970','Cerebral amyloid angiopathy','Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.'),('HP:0011971','Dermatographic urticaria','An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).'),('HP:0011972','Hypoglycorrhachia','Abnormally low glucose concentration in the cerebrospinal fluid.'),('HP:0011973','Paroxysmal lethargy','Repeated episodes of sudden-onset and transient lethargy.'),('HP:0011974','Myelofibrosis','Replacement of bone marrow by fibrous tissue.'),('HP:0011975','Aminoglycoside-induced hearing loss','Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.'),('HP:0011976','Elevated urinary catecholamines','An increased concentration of catecholamine in the urine.'),('HP:0011977','Elevated urinary homovanillic acid','An increased concentration of homovanillic acid in the urine.'),('HP:0011978','Elevated urinary vanillylmandelic acid','An increased concentration of vanillylmandelic acid in the urine.'),('HP:0011979','Elevated urinary dopamine','An increased concentration of dopamine in the urine.'),('HP:0011980','Cholesterol gallstones','Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.'),('HP:0011981','Pigment gallstones','Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.'),('HP:0011982','Black pigment gallstones','A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.'),('HP:0011983','Brown pigment gallstones','A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.'),('HP:0011984','Atretic gallbladder','Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.'),('HP:0011985','Acholic stools','Clay colored stools lacking bile pigment.'),('HP:0011986','Ectopic ossification','Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.'),('HP:0011987','Ectopic ossification in muscle tissue','Formation of abnormal bony tissue within muscle tissue.'),('HP:0011988','Ectopic ossification in tendon tissue','Formation of abnormal bony tissue within tendon tissue.'),('HP:0011989','Ectopic ossification in ligament tissue','Formation of abnormal bony tissue within ligament tissue.'),('HP:0011990','Abnormality of neutrophil physiology','A functional abnormality of neutrophils.'),('HP:0011991','Abnormal neutrophil count','A deviation from the normal range of neutrophil cell counts in the circulation.'),('HP:0011992','Abnormality of neutrophil morphology','An abnormal form or size of neutrophils.'),('HP:0011993','Impaired neutrophil bactericidal activity','A reduction in the ability of neutrophils to kill bacteria.'),('HP:0011994','Abnormal atrial septum morphology','An abnormality of the interatrial septum.'),('HP:0011995','Atrial septal dilatation','A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.'),('HP:0011996','Elevated coagulation factor V activity','Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.'),('HP:0011997','Postprandial hyperlactemia','Abnormally increased level of blood lactate following a meal.'),('HP:0011998','Postprandial hyperglycemia','An increased concentration of glucose in the blood following a meal.'),('HP:0011999','Paranoia','A persecutory delusion of supposed hostility of others.'),('HP:0012000','EEG with generalized spikes','EEG with generalized sharp transient waves of a duration less than 80 msec.'),('HP:0012001','EEG with generalized polyspikes','EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.'),('HP:0012002','Experiential auras','Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.'),('HP:0012003','Affective auras','Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.'),('HP:0012004','Mnemonic auras','Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu).'),('HP:0012005','Deja vu','A subjective feeling that an experience which is occurring for the first time has been experienced before.'),('HP:0012006','Jamais vu','A subjective feeling that an experience which has occurred before is being experienced for the first time.'),('HP:0012007','Hallucinatory auras','Auras with creation of composite perceptions without corresponding external stimuli involving visual, auditory, somatosensory, olfactory and/or gustatory phenomena.'),('HP:0012008','Illusory auras','Auras with an alteration of actual percepts involving the visual, auditory, somatosensory, olfactory or gustatory systems.'),('HP:0012009','EEG with central focal spike waves','EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012010','EEG with frontal focal spike waves','EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012011','EEG with occipital focal spike waves','EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012012','EEG with parietal focal spike waves','EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012013','EEG with temporal focal spike waves','EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012014','EEG with central focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the central region.'),('HP:0012015','EEG with frontal focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.'),('HP:0012016','EEG with occipital focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.'),('HP:0012017','EEG with parietal focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.'),('HP:0012018','EEG with temporal focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.'),('HP:0012019','Lens luxation','Complete dislocation of the lens of the eye.'),('HP:0012020','Right aortic arch','Aorta descends on right instead of on the left.'),('HP:0012021','Persistent patent ductus venosus','Persistence of blood flow through the ductus venosus for longer than the normal time after birth.'),('HP:0012022','Congenital portosystemic venous shunt','A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).'),('HP:0012023','Galactosuria','Elevated concentration of galactose in the urine.'),('HP:0012024','Hypergalactosemia','Elevated concentration of galactose in the blood.'),('HP:0012025','Abnormal circulating ornithine concentration','Deviation from the normal concentration of ornithine in the blood circulation.'),('HP:0012026','Hyperornithinemia','Increased concentration of ornithine in the blood.'),('HP:0012027','Laryngeal edema','An abnormal accumulation of fluid and swelling in the tissues of the larynx.'),('HP:0012028','Hepatocellular adenoma','A benign tumor of the liver of presumably epithelial origin.'),('HP:0012029','Abnormal urine hormone level','An abnormal concentration of a hormone in the urine.'),('HP:0012030','Increased urinary cortisol level','Abnormally increased concentration of cortisol in the urine.'),('HP:0012031','Lipomatous tumor',''),('HP:0012032','Lipoma','Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.'),('HP:0012033','Sacral lipoma','Presence of a lipoma in the region of the sacrum.'),('HP:0012034','Liposarcoma','Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.'),('HP:0012035','Steatocystoma multiplex','Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).'),('HP:0012036','Sternocleidomastoid amyotrophy','Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.'),('HP:0012037','Pectoralis amyotrophy','Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.'),('HP:0012038','Corneal guttata','Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet`s membrane. The presence of focal thickenings of Descemet`s membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.'),('HP:0012039','Descemet Membrane Folds','Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.'),('HP:0012040','Corneal stromal edema','Abnormal accumulation of fluid and swelling of the stroma of cornea.'),('HP:0012041','Decreased fertility in males',''),('HP:0012042','Aspirin-induced asthma','A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.'),('HP:0012043','Pendular nystagmus','Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.'),('HP:0012044','Seesaw nystagmus','Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.'),('HP:0012045','Retinal flecks','Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.'),('HP:0012046','Areflexia of upper limbs','Inability to elicit tendon reflexes in the upper limbs.'),('HP:0012047','Hemeralopia','A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.'),('HP:0012048','Oromandibular dystonia','A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.'),('HP:0012049','Laryngeal dystonia','A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.'),('HP:0012050','Anasarca','An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.'),('HP:0012051','Reactive hypoglycemia','Hypoglycermia following a meal (or more generally, after intake of glucose).'),('HP:0012052','Low serum calcitriol','A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.'),('HP:0012053','Low serum calcifediol','A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.'),('HP:0012054','Choroidal melanoma','Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).'),('HP:0012055','Ciliary body melanoma','Malignant tumor of melanocytes of the ciliary body.'),('HP:0012056','Cutaneous melanoma','The presence of a melanoma of the skin.'),('HP:0012057','Superficial spreading melanoma','A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.'),('HP:0012058','Nodular melanoma','A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.'),('HP:0012059','Lentigo maligna melanoma','A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.'),('HP:0012060','Acral lentiginous melanoma','A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.'),('HP:0012061','Urinary excretion of sialylated oligosaccharides','Excretion of oligosaccharides conjugated to sialic acid in the urine.'),('HP:0012062','Bone cyst','A fluid filled cavity that develops with a bone.'),('HP:0012063','Aneurysmal bone cyst','Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.'),('HP:0012064','Unicameral bone cyst','A benign fluid filled simple cyst of bone filled with serous fluid.'),('HP:0012065','Multiple bony cystic lesions','Presence of multiple cystic changes in multiple areas or multiple bones.'),('HP:0012066','Increased urinary disaccharide excretion','Increased concentration of disaccharide in the urine.'),('HP:0012067','Glycopeptiduria','Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.'),('HP:0012068','Aspartylglucosaminuria','Excretion of excess amounts of aspartylglucosamine in the urine.'),('HP:0012069','Keratan sulfate excretion in urine','An increased concentration of keratan sulfate in the urine.'),('HP:0012070','Chondroitin sulfate excretion in urine','An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.'),('HP:0012071','Abnormal circulating acetylcarnitine concentration','Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.'),('HP:0012072','Aciduria','Excretion of urine with an acid pH.'),('HP:0012073','Abnormal urinary acylglycine profile','An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.'),('HP:0012074','Tonic pupil','An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.'),('HP:0012075','Personality disorder','An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.'),('HP:0012076','Borderline personality disorder','A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions.'),('HP:0012077','Histrionic personality disorder','A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.'),('HP:0012078','Motor conduction block','Blockade of impulses at a focal site along the course of a motor axon.'),('HP:0012079','Abnormality of central motor conduction','Any anomaly of the conduction of motor nerve impulses in the central nervous system.'),('HP:0012080','Cerebellar granular layer atrophy','Atrophy of the cerebellum affecting primarily the granular cell layer.'),('HP:0012081','Enlarged cerebellum','An abnormally increased size of the cerebellum compared to other brain structures.'),('HP:0012082','Cerebellar Purkinje layer atrophy','Atrophy of the cerebellum affecting primarily the Purkinje cell layer.'),('HP:0012083','Ubiquitin-positive cerebral inclusion bodies','Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.'),('HP:0012084','Abnormality of skeletal muscle fiber size','Any abnormality of the size of the skeletal muscle cell.'),('HP:0012085','Pyuria','The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.'),('HP:0012086','Abnormal urinary color','An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.'),('HP:0012087','Abnormal mitochondrial shape','An anomaly in the surface contour of mitochondria.'),('HP:0012088','Abnormal urinary odor','A deviation from the normal odor of the urine.'),('HP:0012089','Arteritis','Arterial inflammation.'),('HP:0012090','Abnormal pancreas morphology',''),('HP:0012091','Abnormality of pancreas physiology','An anomaly of the function of the pancreas.'),('HP:0012092','Abnormality of exocrine pancreas physiology','A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.'),('HP:0012093','Abnormality of endocrine pancreas physiology','A function abnormality of the endocrine pancreas.'),('HP:0012094','Abnormal pancreas size','A deviation from the normal size of the pancreas.'),('HP:0012095','Multiple joint dislocation','Dislocation of many joints.'),('HP:0012096','Intracranial epidermoid cyst','A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.'),('HP:0012097','Intracranial dermoid cyst','A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.'),('HP:0012098','Edema of the dorsum of feet','An abnormal accumulation of fluid beneath the skin on the back of the feet.'),('HP:0012099','Abnormality of circulating catecholamine level','An abnormal catecholamine concentration in the blood.'),('HP:0012100','Abnormal circulating creatinine level','An abnormal concentration of creatinine in the blood.'),('HP:0012101','Decreased serum creatinine','An abnormally reduced amount of creatinine in the blood.'),('HP:0012102','Abnormal mitochondrial number','A deviation from the normal number of mitochondria per cell.'),('HP:0012103','Abnormality of the mitochondrion','An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.'),('HP:0012104','Parietal cortical atrophy','Atrophy of the parietal cortex.'),('HP:0012105','Occipital cortical atrophy','Atrophy of the occipital cortex.'),('HP:0012106','Rhizomelic leg shortening','Disproportionate shortening of the proximal segment of the leg (i.e. the femur).'),('HP:0012107','Increased fibular diameter','Increased width of the cross sectional diameter of the fibula.'),('HP:0012108','Open angle glaucoma','A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,'),('HP:0012109','Angle closure glaucoma','A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).'),('HP:0012110','Hypoplasia of the pons','Underdevelopment of the pons.'),('HP:0012111','Abnormality of circulating glucocorticoid level','An abnormality of the concentration of a glucocorticoid in the blood.'),('HP:0012112','Abnormal circulating corticosterone level','An abnormality of the concentration of corticosterone in the blood.'),('HP:0012113','Abnormal circulating creatine concentration','A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.'),('HP:0012114','Endometrial carcinoma','A carcinoma of the endometrium, the mucous lining of the uterus.'),('HP:0012115','Hepatitis','Inflammation of the liver.'),('HP:0012116','Abnormal albumin level','Deviation from normal concentration of albumin in the blood.'),('HP:0012117','Hyperalbuminemia','Elevation in the concentration of albumin in the blood.'),('HP:0012118','Laryngeal carcinoma','A carcinoma of the larynx.'),('HP:0012119','Methemoglobinemia','Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.'),('HP:0012120','Methylmalonic aciduria','Increased concentration of methylmalonic acid in the urine.'),('HP:0012121','Panuveitis','Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.'),('HP:0012122','Anterior uveitis','Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.'),('HP:0012123','Posterior uveitis','Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.'),('HP:0012124','Intermediate uveitis','Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.'),('HP:0012125','Prostate cancer','A cancer of the prostate.'),('HP:0012126','Stomach cancer','A cancer arising in any part of the stomach.'),('HP:0012127','Uraciluria','Increased concentration of uracil in the urine.'),('HP:0012128','Basal ganglia necrosis','Death of cells in the basal ganglia.'),('HP:0012129','Abnormality of bone marrow stromal cells',''),('HP:0012130','Abnormal erythroid lineage cell morphology','An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.'),('HP:0012131','Abnormal number of erythroid precursors','A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.'),('HP:0012132','Erythroid hyperplasia','Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.'),('HP:0012133','Erythroid hypoplasia','Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.'),('HP:0012134','Dysplastic erythropoesis',''),('HP:0012135','Abnormal granulocytopoietic cell morphology','An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.'),('HP:0012136','Dysplastic granulopoesis',''),('HP:0012137','Abnormal number of granulocyte precursors',''),('HP:0012138','Granulocytic hyperplasia',''),('HP:0012139','Granulocytic hypoplasia','Decreased number of granulocyte precursors in the bone marrow.'),('HP:0012140','obsolete Abnormality of cells of the lymphoid lineage',''),('HP:0012142','Pancreatic squamous cell carcinoma','A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.'),('HP:0012143','Abnormal megakaryocyte morphology','Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.'),('HP:0012144','Abnormality monocyte morphology','Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.'),('HP:0012145','Abnormality of multiple cell lineages in the bone marrow',''),('HP:0012146','Abnormality of von Willebrand factor','Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.'),('HP:0012147','Reduced quantity of Von Willebrand factor','Decreased quantity of von Willebrand factor.'),('HP:0012148','Multiple lineage myelodysplasia','Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.'),('HP:0012149','Bilineage myelodysplasia','Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.'),('HP:0012150','Single lineage myelodysplasia','Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).'),('HP:0012151','Hemothorax','The presence of blood in the pleural space.'),('HP:0012152','Foveoschisis','Splitting of the retinal layers in the macula.'),('HP:0012153','Hypotriglyceridemia','An decrease in the level of triglycerides in the blood.'),('HP:0012154','Anhedonia','Inability to experience pleasure activities usually found enjoyable.'),('HP:0012155','Decreased corneal sensation','Reduced ability of the cornea to respond to stimulation.'),('HP:0012156','Hemophagocytosis','Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.'),('HP:0012157','Subcortical cerebral atrophy','Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.'),('HP:0012158','Carotid artery dissection','A separation (dissection) of the layers of the carotid artery wall.'),('HP:0012159','Internal carotid artery dissection','A separation (dissection) of the layers of the internal carotid artery wall.'),('HP:0012160','Intracranial internal carotid artery dissection','A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.'),('HP:0012161','External carotid artery dissection','A separation (dissection) of the layers of the external carotid artery wall.'),('HP:0012162','Common carotid artery dissection','A separation (dissection) of the layers of the common carotid artery wall.'),('HP:0012163','Carotid artery dilatation','A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.'),('HP:0012164','Asterixis','A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.'),('HP:0012165','Oligodactyly','A developmental defect resulting in the presence of fewer than the normal number of digits.'),('HP:0012166','Skin-picking','Repetitive and compulsive picking of skin which results in tissue damage.'),('HP:0012167','Hair-pulling','A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.'),('HP:0012168','Head-banging','Habitual striking of one`s own head against a surface such as a mattress or wall of a crib.'),('HP:0012169','Self-biting','Habitual biting of one`s own body.'),('HP:0012170','Nail-biting','Habitual biting of one`s own fingernails.'),('HP:0012171','Stereotypical hand wringing','Habitual clasping and squeezing of the hands.'),('HP:0012172','Stereotypical body rocking','Habitual repetitive movement of the body.'),('HP:0012173','Orthostatic tachycardia','An increase in heart rate with standing of 30 beats per minute or more.'),('HP:0012174','Glioblastoma multiforme','A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.'),('HP:0012175','Resistance to activated protein C','Poor anticoagulant response to activated protein C. A plasma is termed `APC resistant` when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.'),('HP:0012176','Abnormal natural killer cell morphology','An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.'),('HP:0012177','Abnormal natural killer cell physiology','A functional anomaly of the natural killer cell.'),('HP:0012178','Reduced natural killer cell activity','Reduced ability of the natural killer cell to function in the adaptive immune response.'),('HP:0012179','Craniofacial dystonia','A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.'),('HP:0012180','Cystic medial necrosis','A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.'),('HP:0012181','Entrapment neuropathy','Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.'),('HP:0012182','Oropharyngeal squamous cell carcinoma','A squamous cell carcinoma that originates in the oropharnyx.'),('HP:0012183','Hyperplastic colonic polyposis','Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.'),('HP:0012184','Increased HDL cholesterol concentration','An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.'),('HP:0012185','Constrictive median neuropathy','Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.'),('HP:0012186','Entrapment neuropathy of the ulnar nerve at elbow','An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.'),('HP:0012187','Increased erythrocyte protoporphyrin concentration','An increased concentration of protoporphyrins in erythrocytes.'),('HP:0012188','Hyperemesis gravidarum','Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.'),('HP:0012189','Hodgkin lymphoma','A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.'),('HP:0012190','T-cell lymphoma','A type of lymphoma that originates in T-cells.'),('HP:0012191','B-cell lymphoma','A type of lymphoma that originates in B-cells.'),('HP:0012192','Cutaneous T-cell lymphoma','A type of T-cell lymphoma that exhibits malignant infiltration of the skin.'),('HP:0012193','Anaplastic large-cell lymphoma','A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.'),('HP:0012194','Episodic hemiplegia','Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.'),('HP:0012195','Irregular respiration','Uneven rhythm of breathing.'),('HP:0012196','Cheyne-Stokes respiration','An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.'),('HP:0012197','Insulinoma','A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.'),('HP:0012198','Juvenile colonic polyposis','The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.'),('HP:0012199','Cluster headache','A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.'),('HP:0012200','Abnormality of prothrombin','An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.'),('HP:0012201','obsolete Reduced prothrombin activity',''),('HP:0012202','Increased serum bile acid concentration','An increase in the concentration of bile acid in the blood.'),('HP:0012203','Onychomycosis','A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.'),('HP:0012204','Recurrent vulvovaginal candidiasis','Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.'),('HP:0012205','Globozoospermia','Any structural anomaly of the acrosome resulting in a round sperm head.'),('HP:0012206','Abnormal sperm motility','An anomaly of the mobility of ejaculated sperm.'),('HP:0012207','Reduced sperm motility','An abnormal reduction in the mobility of ejaculated sperm.'),('HP:0012208','Nonmotile sperm','A lack of mobility of ejaculated sperm.'),('HP:0012209','Juvenile myelomonocytic leukemia','Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.'),('HP:0012210','Abnormal renal morphology','Any structural anomaly of the kidney.'),('HP:0012211','Abnormal renal physiology','An abnormal functionality of the kidney.'),('HP:0012212','Abnormal glomerular filtration rate','An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman`s capsules per unit of time.'),('HP:0012213','Decreased glomerular filtration rate','An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman`s capsules per unit of time.'),('HP:0012214','Increased glomerular filtration rate','An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman`s capsules per unit of time.'),('HP:0012215','Testicular microlithiasis','The deposition of calcium phosphate microliths within the seminiferous tubules.'),('HP:0012216','Entrapment neuropathy of suprascapular nerve','An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.'),('HP:0012217','Increased urinary porphobilinogen','Increased concentration of porphobilinogen in the urine.'),('HP:0012218','Alveolar soft part sarcoma','A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.'),('HP:0012219','Erythema nodosum','An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.'),('HP:0012220','Non-caseating epithelioid cell granulomatosis','The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).'),('HP:0012221','Pretibial blistering','A type of blistering that affects the skin of the tibial region.'),('HP:0012222','Arachnoid hemangiomatosis','The presence of multiple hemangiomas in the arachnoid.'),('HP:0012223','Splenic rupture','A breach of the capsule of the spleen.'),('HP:0012224','Circulating immune complexes','Persistence of immune complexes in the blood circulation.'),('HP:0012225','Oligodontia of primary teeth','Reduced number of primary teeth.'),('HP:0012226','Ovarian teratoma','The presence of a teratoma in the ovary.'),('HP:0012227','Urethral stricture','Narrowing of the urethra associated with inflammation or scar tissue.'),('HP:0012228','Tension-type headache','A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.'),('HP:0012229','CSF pleocytosis','An increased white blood cell count in the cerebrospinal fluid.'),('HP:0012230','Rhegmatogenous retinal detachment','A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.'),('HP:0012231','Exudative retinal detachment','A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.'),('HP:0012232','Shortened QT interval','Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).'),('HP:0012233','Intramuscular hematoma','Blood clot formed within muscle tissue following leakage of blood into the tissue.'),('HP:0012234','Agranulocytosis','Marked decrease in the number of granulocytes.'),('HP:0012235','Drug-induced agranulocytosis','A type of agranulocytosis related to ingestion of a specific medication.'),('HP:0012236','Elevated sweat chloride','An increased concentration of chloride in the sweat.'),('HP:0012237','Urocanic aciduria','An increased concentration of urocanic acid in the urine.'),('HP:0012238','Increased circulating chylomicron concentration','Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.'),('HP:0012239','Atransferrinemia','Absence of transferrin, a protein that transports iron, in the blood.'),('HP:0012240','Increased intramyocellular lipid droplets','An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.'),('HP:0012241','Levator palpebrae superioris atrophy','Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.'),('HP:0012242','Superior rectus atrophy','Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.'),('HP:0012243','Abnormal reproductive system morphology','A structural or developmental anomaly of any of the tissues involved in the genital system.'),('HP:0012244','Abnormal sex determination','Anomaly of primary or secondary sexual development or characteristics.'),('HP:0012245','Sex reversal','Development of the reproductive system is inconsistent with the chromosomal sex.'),('HP:0012246','Oculomotor nerve palsy','Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).'),('HP:0012247','Specific anosmia','Anosmia for one particular odor.'),('HP:0012248','Prolonged PR interval','Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).'),('HP:0012249','Abnormal ST segment','An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.'),('HP:0012250','ST segment depression','An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.'),('HP:0012251','ST segment elevation','An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.'),('HP:0012252','Abnormal respiratory system morphology','A structural anomaly of the respiratory system.'),('HP:0012253','Abnormal respiratory epithelium morphology','Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.'),('HP:0012254','Ewing sarcoma','A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.'),('HP:0012255','Dynein arm defect of respiratory motile cilia','An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012256','Absent outer dynein arms','Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012257','Absent inner dynein arms','Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012258','Abnormal axonemal organization of respiratory motile cilia','Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.'),('HP:0012259','Absent inner and outer dynein arms','Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012260','Abnormal central microtubular pair morphology of respiratory motile cilia','A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.'),('HP:0012261','Abnormal respiratory motile cilium physiology','Any functional anomaly of the respiratory motile cilia.'),('HP:0012262','Abnormal ciliary motility','Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.'),('HP:0012263','Immotile cilia',''),('HP:0012264','Absent central microtubular pair morphology of respiratory motile cilia','Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.'),('HP:0012265','Ciliary dyskinesia','A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.'),('HP:0012266','T-wave alternans','A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.'),('HP:0012267','Absent respiratory ciliary axoneme radial spokes','Absence of the radial spokes of the axoneme of the respiratory cilium.'),('HP:0012268','Myxoid liposarcoma','A liposarcoma that contains myxomatous tissue.'),('HP:0012269','Abnormal muscle glycogen content','Any anomaly in the amount of glycogen in muscle tissue.'),('HP:0012270','Decreased muscle glycogen content','A decreased amount of glycogen in muscle tissue.'),('HP:0012271','Episodic upper airway obstruction','Intermittent episodes of increased resistance to the passage of air in the upper airway.'),('HP:0012272','J wave','The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.'),('HP:0012273','Increased carotid artery intimal medial thickness','An increase in the combined thickness of the intima and media of the carotid artery.'),('HP:0012274','Autosomal dominant inheritance with paternal imprinting','A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.'),('HP:0012275','Autosomal dominant inheritance with maternal imprinting','A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.'),('HP:0012276','Digital flexor tenosynovitis','Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.'),('HP:0012277','Hypoglycinemia','An abnormally reduced concentration of glycine in the blood.'),('HP:0012278','Abnormal circulating serine concentration','Any deviation from the normal concentration of serine in the blood circulation.'),('HP:0012279','Hyposerinemia','Reduced concentration of serine in the blood.'),('HP:0012280','Hepatic amyloidosis','A form of amyloidosis that affects the liver.'),('HP:0012281','Chylous ascites','Extravasation of chyle into the peritoneal cavity.'),('HP:0012282','Morbilliform rash','An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.'),('HP:0012283','Small distal femoral epiphysis','Reduced size of the Distal epiphysis of femur.'),('HP:0012284','Small proximal tibial epiphyses','Reduced size of the proximal epiphysis of the tibia.'),('HP:0012285','Abnormal hypothalamus physiology','An abnormal functionality of the hypothalamus.'),('HP:0012286','Abnormal hypothalamus morphology','Any structural anomaly of the hypothalamus.'),('HP:0012287','Hypothalamic luteinizing hormone-releasing hormone deficiency','Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.'),('HP:0012288','Neoplasm of head and neck','A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.'),('HP:0012289','Facial neoplasm','A tumor (abnormal growth of tissue) of the face.'),('HP:0012290','Mouth neoplasm','A tumor (abnormal growth of tissue) of the mouth.'),('HP:0012291','obsolete Tracheal neoplasm',''),('HP:0012292','Fusion of gums','A congenital defect with an abnormal joining of the gums of the upper and lower jaw.'),('HP:0012293','Abnormal genital pigmentation','An abnormal pigmentation pattern of the external genitalia.'),('HP:0012294','Abnormality of the occipital bone','Abnormality of the occipital bone of the skull.'),('HP:0012295','Slender middle phalanx of finger','Reduced diameter of the middle phalanx of finger.'),('HP:0012296','Slender distal phalanx of finger','Reduced diameter of the distal phalanx of finger.'),('HP:0012297','Slender proximal phalanx of finger','Reduced diameter of the proximal phalanx of finger.'),('HP:0012298','Long middle phalanx of finger','Increased length of the middle phalanx of finger.'),('HP:0012299','Long distal phalanx of finger','Increased length of the distal phalanx of finger.'),('HP:0012300','Ureteral agenesis','Failure of the ureter to undergo development.'),('HP:0012301','Type II transferrin isoform profile','Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.'),('HP:0012302','Herpes simplex encephalitis','A severe virus infection of the central nervous system by the herpes simplex virus (HSV).'),('HP:0012303','Abnormal aortic arch morphology','An anomaly of the arch of aorta.'),('HP:0012304','Hypoplastic aortic arch','Underdevelopment of the arch of aorta.'),('HP:0012305','Coarctation of the descending aortic arch','Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.'),('HP:0012306','Abnormal rib ossification','An anomaly of the process of rib bone formation.'),('HP:0012307','Spatulate ribs','Ribs that are increased in width and taper to the posterior ends.'),('HP:0012308','Decreased serum complement C9','A reduced level of the complement component C9 in circulation.'),('HP:0012309','Cutaneous amyloidosis','The presence of amyloid deposition in the superficial dermis.'),('HP:0012310','Abnormal monocyte count','An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.'),('HP:0012311','Monocytosis','An increased number of circulating monocytes.'),('HP:0012312','Monocytopenia','An decreased number of circulating monocytes.'),('HP:0012313','Heberden`s node','Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.'),('HP:0012314','Bouchard`s node','Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.'),('HP:0012315','Histiocytoma','A neoplasm containing histiocytes.'),('HP:0012316','Fibrous tissue neoplasm','Any neoplasm composed of fibrous tissue.'),('HP:0012317','Sacroiliac arthritis','Inflammation of the sacroiliac joint, generally accompanied by lower back pain.'),('HP:0012318','Occipital neuralgia','A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.'),('HP:0012319','Absent pigmentation of the abdomen','Lack of skin pigmentation (coloring) of the abdomen.'),('HP:0012320','Absent pigmentation of the limbs','Lack of skin pigmentation (coloring) of the arms and legs.'),('HP:0012321','D-2-hydroxyglutaric aciduria','An increased concentration of 2-hydroxyglutaric acid in the urine.'),('HP:0012322','Perifolliculitis','Inflammation surrounding hair follicles.'),('HP:0012323','Sleep myoclonus','Myoclonus that occurs during the initial phases of sleep.'),('HP:0012324','Myeloid leukemia','A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.'),('HP:0012325','Chronic myelomonocytic leukemia','A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.'),('HP:0012326','Abnormal celiac artery morphology','An anomaly of the celiac artery.'),('HP:0012327','Celiac artery compression','Compression of the celiac artery.'),('HP:0012328','Cementoma','An odontogenic tumor of the cementum of tooth.'),('HP:0012329','Tufted angioma','A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.'),('HP:0012330','Pyelonephritis','An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.'),('HP:0012331','Abnormal autonomic nervous system morphology','A structural abnormality of the autonomic nervous system.'),('HP:0012332','Abnormal autonomic nervous system physiology','A functional abnormality of the autonomic nervous system.'),('HP:0012333','Abnormal sudomotor regulation','An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.'),('HP:0012334','Extrahepatic cholestasis','Impairment of bile flow due to obstruction in large bile ducts outside the liver.'),('HP:0012335','Abnormality of folate metabolism','An abnormality of the metabolism of folic acid, which is also known as vitamin B9.'),('HP:0012336','obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration',''),('HP:0012337','Abnormal homeostasis','An anomaly in the processes involved in the maintenance of an internal equilibrium.'),('HP:0012338','Abnormal energy expenditure','Any anomaly in the utilization of energy (calories).'),('HP:0012339','Increased resting energy expenditure','An increase in the number of calories used per unit time.'),('HP:0012340','Decreased resting energy expenditure','A reduction in the number of calories used per unit time.'),('HP:0012341','Microprolactinoma','A pituitary prolactin cell adenoma of less than 10 mm diameter.'),('HP:0012342','Macroprolactinoma','A pituitary prolactin cell adenoma of more than 10 mm diameter.'),('HP:0012343','Decreased serum ferritin','Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.'),('HP:0012344','Morphea','Isolated patches of hardened skin (scleroderma).'),('HP:0012345','Abnormal glycosylation','An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.'),('HP:0012346','Abnormal protein glycosylation','An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.'),('HP:0012347','Abnormal protein N-linked glycosylation','An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.'),('HP:0012348','Decreased galactosylation of N-linked protein glycosylation','A reduction in the amount of galactose residues of N-glycans.'),('HP:0012349','Abnormal sialylation of N-linked protein glycosylation','An anomaly of the addition of sialic acids to N-linked glycans.'),('HP:0012350','Decreased sialylation of N-linked protein glycosylation','Decreased addition of sialic acids to N-linked glycans.'),('HP:0012351','Increased sialylation of N-linked protein glycosylation','Increased addition of sialic acids to N-linked glycans.'),('HP:0012352','Abnormal fucosylation of protein N-linked glycosylation','An anomaly of the addition of fucose sugar units to N-linked glycans.'),('HP:0012353','Decreased fucosylation of N-linked protein glycosylation','Decreased addition of fucose sugar units to N-linked glycans.'),('HP:0012354','Increased fucosylation of N-linked protein glycosylation','Increased addition of fucose sugar units to N-linked glycans.'),('HP:0012355','Abnormal mannosylation of N-linked protein glycosylation','An anomaly of the addition of mannose to N-linked glycans.'),('HP:0012356','Decreased mannosylation of N-linked protein glycosylation','Reduced addition of mannose to N-linked glycans.'),('HP:0012357','Increased mannosylation of N-linked protein glycosylation','Increased addition of mannose to N-linked glycans.'),('HP:0012358','Abnormal protein O-linked glycosylation','An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.'),('HP:0012359','Abnormal fucosylation of O-linked protein glycosylation','An anomaly of the addition of fucose sugar units to O-linked glycans.'),('HP:0012360','Decreased fucosylation of O-linked protein glycosylation','A reduction of the addition of fucose sugar units to O-linked glycans.'),('HP:0012361','Increased fucosylation of O-linked protein glycosylation','Increased addition of fucose sugar units to O-linked glycans.'),('HP:0012362','Abnormal sialylation of O-linked protein glycosylation','An anomaly of the addition of sialic acids to O-linked glycans.'),('HP:0012363','Decreased sialylation of O-linked protein glycosylation','An reduced addition of sialic acids to O-linked glycans.'),('HP:0012364','Decreased urinary potassium','A decreased concentration of potassium(1+) in the urine.'),('HP:0012365','Hypophosphaturia','An abnormally decreased phosphate concentration in the urine.'),('HP:0012366','Basilar invagination','Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain`s line) or the tip of the dens is greater than 7 mm above McGregor`s line (the back of the hard palate to the lowest point of the occipital squama).'),('HP:0012367','Extra fontanelles','Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.'),('HP:0012368','Flat face','Absence of concavity or convexity of the face when viewed in profile.'),('HP:0012369','Abnormality of malar bones','An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.'),('HP:0012370','Prominence of the zygomatic bone','Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the `cheek bones`.'),('HP:0012371','Hyperplasia of midface','Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face'),('HP:0012372','Abnormal eye morphology','A structural anomaly of the globe of the eye, or bulbus oculi.'),('HP:0012373','Abnormal eye physiology','A functional anomaly of the eye.'),('HP:0012374','obsolete Abnormal globe morphology',''),('HP:0012375','Chemosis','Edema (swelling) of the bulbar conjunctiva.'),('HP:0012376','Microphakia','Abnormal smallness of the lens.'),('HP:0012377','Hemianopia','Partial or complete loss of vision in one half of the visual field of one or both eyes.'),('HP:0012378','Fatigue','A subjective feeling of tiredness characterized by a lack of energy and motivation.'),('HP:0012379','Abnormal enzyme/coenzyme activity','An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.'),('HP:0012380','Reduced carnitine O-palmitoyltransferase level','Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.'),('HP:0012381','Delayed self-feeding during toddler years','A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).'),('HP:0012382','Left-to-right shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.'),('HP:0012383','Bidirectional shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.'),('HP:0012384','Rhinitis','Inflammation of the nasal mucosa with nasal congestion.'),('HP:0012385','Camptodactyly','The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.'),('HP:0012386','Absent hallux','Aplasia of the hallux, that is, a development defect such that the big toe does not develop.'),('HP:0012387','Bronchitis','Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.'),('HP:0012388','Acute bronchitis','Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.'),('HP:0012389','Appendicular hypotonia','Muscular hypotonia of one or more limbs.'),('HP:0012390','Anal fissure','A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.'),('HP:0012391','Hyporeflexia of upper limbs','Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.'),('HP:0012392','Jaw hyporeflexia','Reduced intensity of muscle tendon reflexes in jaw.'),('HP:0012393','Allergy','An allergy is an immune response or reaction to substances that are usually not harmful.'),('HP:0012394','Iodine contrast allergy','Allergy to iodine contrast media used in radiological studies.'),('HP:0012395','Seasonal allergy','An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.'),('HP:0012396','Biliary dyskinesia','A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.'),('HP:0012397','Aortic atherosclerotic lesion','The presence of atheromas or atherosclerotic plaques in the aorta.'),('HP:0012398','Peripheral edema','An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.'),('HP:0012399','Pressure ulcer','A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.'),('HP:0012400','Abnormal aldolase level','An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.'),('HP:0012401','Abnormal urine alpha-ketoglutarate concentration','A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.'),('HP:0012402','Increased urine alpha-ketoglutarate concentration','A greater than normal concentration of 2-oxoglutaric acid in the urine.'),('HP:0012403','Decreased urine alpha-ketoglutarate concentration','A lower than normal concentration of 2-oxoglutaric acid in the urine.'),('HP:0012404','Abnormal urine citrate concentration','A deviation from normal of the concentration of citrate(3-) in the urine.'),('HP:0012405','Hypocitraturia','A lower than normal concentration of citrate(3-) in the urine.'),('HP:0012406','Hypercitraturia','A greater than normal concentration of citrate(3-) in the urine.'),('HP:0012407','Scissor gait','A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.'),('HP:0012408','Medullary nephrocalcinosis','The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).'),('HP:0012409','Cortical nephrocalcinosis','The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).'),('HP:0012410','Pure red cell aplasia','A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.'),('HP:0012411','Premature pubarche','The onset of growth of pubic hair at an earlier age than normal.'),('HP:0012412','Premature adrenarche','Onset of adrenarche at an earlier age than usual.'),('HP:0012413','Notched primary central incisor','The presence of a V-shaped indentation (notch) in the primary central incisor.'),('HP:0012414','Duodenal atrophy','Wasting or decrease in size of all or part of the duodenum.'),('HP:0012415','Abnormal blood gas level','An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.'),('HP:0012416','Hypercapnia','Abnormally elevated blood carbon dioxide (CO2) level.'),('HP:0012417','Hypocapnia','Abnormally reduced blood carbon dioxide (CO2) level.'),('HP:0012418','Hypoxemia','An abnormally low level of blood oxygen.'),('HP:0012419','Hyperoxemia','An abnormally high level of blood oxygen.'),('HP:0012420','Meconium stained amniotic fluid','Amniotic fluid containing the earliest stools of a mammalian infant.'),('HP:0012421','Congenital absence of foreskin','Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.'),('HP:0012422','Villous hypertrophy of choroid plexus','Overgrowth of the choroid plexus.'),('HP:0012423','Colonic inertia','The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.'),('HP:0012424','Chorioretinitis','An inflammation of the choroid and retina.'),('HP:0012425','Stercoral ulcer','An ulcer of the colon due to pressure and irritation from retained fecal masses.'),('HP:0012426','Optic disc drusen','Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.'),('HP:0012427','Excessive femoral anteversion','An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.'),('HP:0012428','Prominent calcaneus','Protruding heel bone, or calcaneus.'),('HP:0012429','Aplasia/Hypoplasia of the cerebral white matter','Absence or underdevelopment of the cerebral white matter.'),('HP:0012430','Cerebral white matter hypoplasia','Underdevelopment of the cerebral white matter.'),('HP:0012431','Episodic fatigue','Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.'),('HP:0012432','Chronic fatigue','Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.'),('HP:0012433','Abnormal social behavior','An abnormality of actions or reactions of a person taking place during interactions with others.'),('HP:0012434','Delayed social development','A failure to meet one or more age-related milestones of social behavior.'),('HP:0012435','Ventral shortening of foreskin','Reduction in length of the ventral (lower) skin of prepuce of penis.'),('HP:0012436','Nonocclusive coronary artery atherosclerosis','Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.'),('HP:0012437','Abnormal gallbladder morphology','A structural anomaly of the gallbladder.'),('HP:0012438','Abnormal gallbladder physiology','A functional anomaly of the gallbladder.'),('HP:0012439','Abnormal biliary tract physiology','A functional abnormality of the biliary tree.'),('HP:0012440','Abnormal biliary tract morphology','A structural abnormality of the biliary tree.'),('HP:0012441','Sphincter of Oddi dyskinesia','Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.'),('HP:0012442','Gallbladder dyskinesia','Reduced motility of the gallbladder with reduced emptying fraction.'),('HP:0012443','Abnormality of brain morphology','A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.'),('HP:0012444','Brain atrophy','Partial or complete wasting (loss) of brain tissue that was once present.'),('HP:0012446','Decreased CSF 5-methyltetrahydrofolate concentration','A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.'),('HP:0012447','Abnormal myelination','Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.'),('HP:0012448','Delayed myelination','Delayed myelination.'),('HP:0012449','Sacroiliac joint synovitis','Inflammation of the synovial membrane of the sacroiliac joint.'),('HP:0012450','Chronic constipation','Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.'),('HP:0012451','Acute constipation','Constipation of sudden onset and lasting for less than three months.'),('HP:0012452','Restless legs','A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).'),('HP:0012453','Bilateral wrist flexion contracture','A chronic loss of wrist joint motion on the right and left sides.'),('HP:0012454','Unilateral wrist flexion contracture','A chronic loss of wrist joint motion on one side only.'),('HP:0012455','obsolete Large artery calcification',''),('HP:0012456','Medial arterial calcification','Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.'),('HP:0012457','Medial calcification of medium-sized arteries','Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.'),('HP:0012458','Medial calcification of small arteries','Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.'),('HP:0012459','Hypnic headache','A headache disorder that occurs exclusively at night, waking the affected individual from sleep.'),('HP:0012460','Dysmorphic inferior cerebellar vermis','A structural anomaly of the inferior portion of the vermis of cerebellum.'),('HP:0012461','Bacteriuria','The presence of bacteria in the urine.'),('HP:0012462','Chin myoclonus','Involuntary and irregular twitches of the chin.'),('HP:0012463','Elevated transferrin saturation','An above normal level of saturation of serum transferrin with iron.'),('HP:0012464','Decreased transferrin saturation','A below normal level of saturation of serum transferrin with iron.'),('HP:0012465','Elevated hepatic iron concentration','An increased level of iron in liver tissues.'),('HP:0012466','Chronic respiratory acidosis','Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).'),('HP:0012467','Acute respiratory acidosis','Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).'),('HP:0012468','Chronic acidosis','Longstanding abnormal acid accumulation or depletion of base.'),('HP:0012469','Infantile spasms','Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).'),('HP:0012470','Setting-sun eye phenomenon','An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.'),('HP:0012471','Thick vermilion border','Increased width of the skin of vermilion border region of upper lip.'),('HP:0012472','Eclabion','A turning outward of the lip or lips, that is, eversion of the lips.'),('HP:0012473','Tongue atrophy','Wasting of the tongue.'),('HP:0012474','Carotid artery occlusion','Complete obstruction of a carotid artery.'),('HP:0012475','Decreased circulating level of specific antibody','The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.'),('HP:0012476','Decreased specific pneumococcal antibody level','The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.'),('HP:0012477','Vocal tremor','A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.'),('HP:0012478','Temporomandibular joint ankylosis','Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.'),('HP:0012479','Temporomandibular joint crepitus','Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.'),('HP:0012480','Abnormality of cerebral veins','An anomaly of cerebral veins.'),('HP:0012481','Cerebral venous angioma','A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.'),('HP:0012482','Frontal venous angioma','A venous angioma of the frontal lobe of the brain.'),('HP:0012483','Abnormal alpha granules','Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.'),('HP:0012484','Abnormal dense granules','Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium , histamine and serotonin.'),('HP:0012485','Abnormal surface-connected open canalicular system','An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.'),('HP:0012486','Myelitis','Inflammation of the spinal cord.'),('HP:0012487','Cerebellopontine angle arachnoid cyst','An arachnoid cyst located at the margin of the cerebellum and pons.'),('HP:0012488','Intraventricular arachnoid cyst','An arachnoid cyst located within the ventricular system.'),('HP:0012489','Suprasellar arachnoid cyst','An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.'),('HP:0012490','Panniculitis','Inflammation of adipose tissue.'),('HP:0012491','Abnormal dense tubular system','An anomaly of the intracellular membrane complexes known as the dense tubular system.'),('HP:0012492','Cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of a cerebral artery.'),('HP:0012493','Middle cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.'),('HP:0012494','Anterior cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.'),('HP:0012495','Posterior cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.'),('HP:0012496','Reduced maximal inspiratory pressure','A decrease in the maximum amount of negative pressure a person can generate during an inhalation.'),('HP:0012497','Reduced maximal expiratory pressure','A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.'),('HP:0012498','Nuchal cord','A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.'),('HP:0012499','Descending aortic dissection','A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.'),('HP:0012500','Verrucous papule','A wartlike (with multiple small elevated projections) papule.'),('HP:0012501','Abnormality of the brainstem white matter','An anomaly of the white matter of brainstem.'),('HP:0012502','Abnormality of the internal capsule','An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.'),('HP:0012503','Abnormality of the pituitary gland','An anomaly of the pituitary gland.'),('HP:0012504','Abnormal size of pituitary gland','A deviation from the normal size of the pituitary gland.'),('HP:0012505','Enlarged pituitary gland','An abnormally increased size of the pituitary gland.'),('HP:0012506','Small pituitary gland','An abnormally decreased size of the pituitary gland.'),('HP:0012507','Weakness of orbicularis oculi muscle','Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.'),('HP:0012508','Metamorphopsia','A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.'),('HP:0012509','Reduced thyroxin-binding globulin','An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3`-triiodothyronine (T3) in the bloodstream.'),('HP:0012510','Extra-axial cerebrospinal fluid accumulation','An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.'),('HP:0012511','Temporal optic disc pallor','A pale yellow discoloration of the temporal (lateral) portion of the optic disc.'),('HP:0012512','Diffuse optic disc pallor','A pale yellow discoloration of the entire optic disc.'),('HP:0012513','Upper limb pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.'),('HP:0012514','Lower limb pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.'),('HP:0012515','Hip flexor weakness','Reduced ability to flex the femur, that is, to pull the knee upward.'),('HP:0012516','Tetralogy of Fallot with pulmonary atresia','An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.'),('HP:0012517','Reduced catalase level','An abnormally decreased amount of catalase level.'),('HP:0012518','Abnormal circle of Willis morphology','An anomaly of the circle of Willis, also known as the cerebral arterial circle.'),('HP:0012519','Hypoplastic posterior communicating artery','Underdeveloped posterior communicating artery.'),('HP:0012520','Perivascular spaces','Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.'),('HP:0012521','Optic nerve aplasia','Congenital absence of the optic nerve.'),('HP:0012522','Spider hemangioma','A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.'),('HP:0012523','Oral aversion','Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).'),('HP:0012524','Abnormal platelet shape','A deviation from the normal discoid platelet shape.'),('HP:0012525','Abnormal alpha granule distribution','An anomalous location and arrangement of platelet alpha granules.'),('HP:0012526','Absence of alpha granules','A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.'),('HP:0012527','Abnormal alpha granule content','A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.'),('HP:0012528','Abnormal number of alpha granules','A deviation from the normal count of alpha granules per thrombocyte.'),('HP:0012529','Abnormal dense granule content','A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.'),('HP:0012530','Abnormal number of dense granules','A deviation from the normal count of dense granules per thrombocyte.'),('HP:0012531','Pain','An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.'),('HP:0012532','Chronic pain','Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.'),('HP:0012533','Allodynia','Pain due to a stimulus that does not normally provoke pain.'),('HP:0012534','Dysesthesia','Abnormal sensations with no apparent physical cause that are painful or unpleasant.'),('HP:0012535','Abnormal synaptic transmission','An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.'),('HP:0012536','Maternal anticardiolipin antibody positive','The presence of circulating autoantibodies to anticardiolipin in the mother.'),('HP:0012537','Food intolerance','A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.'),('HP:0012538','Gluten intolerance','A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.'),('HP:0012539','Non-Hodgkin lymphoma','A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.'),('HP:0012540','Axillary epidermoid cyst','An epidermoid cyst in the armpit.'),('HP:0012541','Cephalohematoma','Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.'),('HP:0012542','Onychauxis','Thickened nails without deformity.'),('HP:0012543','Hemosiderinuria','The presence of hemosiderin in the urine.'),('HP:0012544','Elevated aldolase level','An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.'),('HP:0012545','Reduced aldolase level','An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.'),('HP:0012546','Skewed maternal X inactivation','A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.'),('HP:0012547','Abnormal involuntary eye movements','Anomalous movements of the eyes that occur without the subject wanting them to happen.'),('HP:0012548','Fatty replacement of skeletal muscle','Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers'),('HP:0012549','Conjunctival lipoma','A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.'),('HP:0012550','Colonic varices','The presence of varices (enlarged and convoluted blood vessels) in the colon.'),('HP:0012551','Absent neutrophil specific granules','Lack of specific granules in neutrophils.'),('HP:0012552','Increased neutrophil nuclear projections','Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.'),('HP:0012553','Hypoplastic thumbnail','A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.'),('HP:0012554','Absent thumbnail','Absence of thumb nail.'),('HP:0012555','Absent nail of hallux','Absent nail of big toe.'),('HP:0012556','Hyperbetaalaninemia','Increased concentration of beta-alanine in the blood.'),('HP:0012557','EEG with centrotemporal focal spike waves','EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012558','Abnormal T3/T4 ratio','A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.'),('HP:0012559','Increased T3/T4 ratio','A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.'),('HP:0012560','Decreased T3/T4 ratio','A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.'),('HP:0012561','Unicuspid aortic valve','The presence of an aortic valve with one instead of the normal three cusps (flaps).'),('HP:0012562','Premature epimetaphyseal fusion in hand','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012563','Premature epimetaphyseal fusion in foot','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012564','Premature epimetaphyseal fusion in tibia','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012565','Premature epimetaphyseal fusion in fibula','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012566','Premature epimetaphyseal fusion in radius','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012567','Premature epimetaphyseal fusion in ulna','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012568','Lower eyelid edema','Edema in the region of the Lower eyelid.'),('HP:0012569','Delayed menarche','First period after the age of 15 years.'),('HP:0012570','Synovial sarcoma','A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.'),('HP:0012571','Ureter fissus','A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.'),('HP:0012572','Ureter duplex','A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.'),('HP:0012573','Global proximal tubulopathy','A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.'),('HP:0012574','Mesangial hypercellularity','Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment.'),('HP:0012575','Abnormal nephron morphology','A structural anomaly of the nephron.'),('HP:0012576','Glomerular C3 deposition','The presence of complement 3 deposits in the glomerulus.'),('HP:0012577','Thin glomerular basement membrane','Reduction in thickness of the basal lamina of the glomerulus of the kidney.'),('HP:0012578','Membranous nephropathy','A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.'),('HP:0012579','Minimal change glomerulonephritis','The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.'),('HP:0012580','Calcium phosphate nephrolithiasis','The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.'),('HP:0012581','Solitary renal cyst','An isolated cyst of the kidney.'),('HP:0012582','Bilateral renal dysplasia','A bilateral form of developmental dysplasia of the kidney.'),('HP:0012583','Unilateral renal hypoplasia','One sided hypoplasia of the kidney.'),('HP:0012584','Bilateral renal hypoplasia','Two sided hypoplasia of the kidney.'),('HP:0012585','Renal atrophy','Atrophy of the kidney.'),('HP:0012586','Bilateral renal atrophy','A two-sided form of atrophy of the kidney.'),('HP:0012587','Macroscopic hematuria','Hematuria that is visible upon inspection of the urine.'),('HP:0012588','Steroid-resistant nephrotic syndrome','A form of nephrotic syndrome that does not respond to treatment with steroid medication.'),('HP:0012589','Multidrug-resistant nephrotic syndrome','A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.'),('HP:0012590','Abnormal urine output','An abnormal amount of urine production.'),('HP:0012591','Abnormal urinary electrolyte concentration','An abnormality in the concentration of electrolytes in the urine.'),('HP:0012592','Albuminuria','Increased concentration of albumin in the urine.'),('HP:0012593','Nephrotic range proteinuria','Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.'),('HP:0012594','Microalbuminuria','The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day).'),('HP:0012595','Mild proteinuria','Mildly increased levels of protein in the urine (150-500 mg per day in adults).'),('HP:0012596','Moderate proteinuria','Moderately increased levels of protein in the urine (500-1000 mg per day in adults).'),('HP:0012597','Heavy proteinuria','Severely increased levels of protein in the urine (1000-3000 mg per day in adults).'),('HP:0012598','Abnormal urine potassium concentration','An abnormal concentration of potassium(1+) in the urine.'),('HP:0012599','Abnormal urine phosphate concentration','An abnormal phosphate concentration in the urine.'),('HP:0012600','Abnormal urine chloride concentration','An abnormal concentration of chloride in the urine.'),('HP:0012601','Hypochloriduria','An decreased concentration of chloride in the urine.'),('HP:0012602','Renal chloride wasting','High urine chloride in the presence of hypochloridemia.'),('HP:0012603','Abnormal urine sodium concentration','An abnormal concentration of sodium in the urine.'),('HP:0012604','Hyponatriuria','An abnormally decreased sodium concentration in the urine.'),('HP:0012605','Hypernatriuria','An increased concentration of sodium(1+) in the urine.'),('HP:0012606','Renal sodium wasting','An abnormally increased sodium concentration in the urine in the presence of hyponatremia.'),('HP:0012607','Abnormal urine magnesium concentration','An abnormal concentration of magnesium the urine.'),('HP:0012608','Hypermagnesiuria','An increased concentration of magnesium the urine.'),('HP:0012609','Hypomagnesiuria','An decreased concentration of magnesium the urine.'),('HP:0012610','Abnormality of urinary uric acid concentration','Abnormal concentration of urate in the urine.'),('HP:0012611','Increased urinary urate','Elevated concentration of urate in the urine.'),('HP:0012612','Abnormal urinary sulfate concentration','Abnormal concentration of sulfate in the urine.'),('HP:0012613','Increased urinary sulfate','Elevated concentration of SO4(2-), i.e., sulfate, in the urine.'),('HP:0012614','Abnormal urine cytology','An anomalous finding in the examination of the urine for cells.'),('HP:0012615','Cylindruria','The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.'),('HP:0012616','Leukocyte cylindruria','Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.'),('HP:0012617','Erythrocyte cylindruria','Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.'),('HP:0012618','Urachal cyst','A cyst located along the allantois canal.'),('HP:0012619','Multiple bladder diverticula','Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.'),('HP:0012620','Cloacal abnormality','A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.'),('HP:0012621','Persistent cloaca','Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.'),('HP:0012622','Chronic kidney disease','Functional anomaly of the kidney persisting for at least three months.'),('HP:0012623','Stage 1 chronic kidney disease','A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).'),('HP:0012624','Stage 2 chronic kidney disease','A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).'),('HP:0012625','Stage 3 chronic kidney disease','A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).'),('HP:0012626','Stage 4 chronic kidney disease','A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).'),('HP:0012627','Pseudoexfoliation','Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.'),('HP:0012628','Abnormal suspensory ligament of lens morphology','An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.'),('HP:0012629','Phakodonesis','Tremulousness (trembling) of the lens of the eye.'),('HP:0012630','Abnormal trabecular meshwork morphology','An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.'),('HP:0012631','Pigment deposition in the trabecular meshwork','Accumulation of abnormal amounts of pigment within the trabecular meshwork.'),('HP:0012632','Abnormal intraocular pressure','An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.'),('HP:0012633','Asymmetry of intraocular pressure','A difference in the amount of intraocular pressure in the right and left eye.'),('HP:0012634','Iris pigment dispersion','Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.'),('HP:0012635','Iris hypoperfusion','Reduction in the amount of blood flow to the iris.'),('HP:0012636','Retinal vein occlusion','Blockage of the retinal vein.'),('HP:0012637','Renal calcium wasting','High urine calcium in the presence of hypocalcemia.'),('HP:0012638','Abnormal nervous system physiology','A functional anomaly of the nervous system.'),('HP:0012639','Abnormal nervous system morphology','A structural anomaly of the nervous system.'),('HP:0012640','Abnormality of intracranial pressure','A deviation from the norm of the intracranial pressure.'),('HP:0012641','Decreased intracranial pressure','A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.'),('HP:0012642','Cerebellar agenesis','Lack of development of the cerebellum.'),('HP:0012643','Foveal hypopigmentation','Decreased amount of pigmentation in the fovea centralis.'),('HP:0012644','Increased caudate lactate level','An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.'),('HP:0012645','Enlarged peripheral nerve','Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.'),('HP:0012646','Retractile testis','A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.'),('HP:0012647','Abnormal inflammatory response','Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.'),('HP:0012648','Decreased inflammatory response','An abnormal reduction in the inflammatory response to injury or infection.'),('HP:0012649','Increased inflammatory response','A abnormal increase in the inflammatory response to injury or infection.'),('HP:0012650','Perisylvian polymicrogyria','Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.'),('HP:0012651','Abasia','A severe form of gait ataxia such that an affected person cannot walk at all.'),('HP:0012652','Exercise-induced asthma','Asthma attacks following exercise.'),('HP:0012653','Status asthmaticus','Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.'),('HP:0012654','Abnormal CSF dopamine level','Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).'),('HP:0012655','Elevated CSF dopamine level','Increased concentration of dopamine in the cerebrospinal fluid (CSF).'),('HP:0012656','Reduced CSF dopamine level','Decreased concentration of dopamine in the cerebrospinal fluid (CSF).'),('HP:0012657','Abnormal brain positron emission tomography','A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.'),('HP:0012658','Abnormal brain FDG positron emission tomography','An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.'),('HP:0012659','Prefrontal hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.'),('HP:0012660','Thalamic hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.'),('HP:0012661','Hypothalamic hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.'),('HP:0012662','Parietal hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.'),('HP:0012663','Mildly reduced ejection fraction','A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.'),('HP:0012664','Reduced ejection fraction','A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.'),('HP:0012665','Moderately reduced ejection fraction','A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle.'),('HP:0012666','Severely reduced ejection fraction','A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.'),('HP:0012667','Regional left ventricular wall motion abnormality','An abnormal motion of a segment of the left ventricle during the cardiac cycle.'),('HP:0012668','Vasovagal syncope',''),('HP:0012669','Carotid sinus syncope','An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.'),('HP:0012670','Orthostatic syncope','Syncope following a quick change in position from lying down to standing.'),('HP:0012671','Abulia','Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.'),('HP:0012672','Akinetic mutism','Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.'),('HP:0012673','Aplasia of the upper vagina','A failure to develop of the upper vagina.'),('HP:0012674','Aplasia of the lower vagina','A failure to develop of the lower part of the vagina.'),('HP:0012675','Iron accumulation in brain','An abnormal build up of iron (Fe) in brain tissue.'),('HP:0012676','Copper accumulation in brain','An anomalous build up of copper (Cu) in the brain.'),('HP:0012677','Iron accumulation in globus pallidus','An abnormal build up of iron (Fe) in the globus pallidus.'),('HP:0012678','Iron accumulation in substantia nigra','An anomalous build up of iron (Fe) in the substantia nigra.'),('HP:0012679','Widened interpedicular distance','An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.'),('HP:0012680','Abnormality of the pineal gland','An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.'),('HP:0012681','Abnormality of pineal morphology','A structural abnormality of the pineal gland.'),('HP:0012682','Pineal gland calcification','Accumulation of calcium salts in the pineal gland.'),('HP:0012683','Pineal cyst','A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.'),('HP:0012684','Abnormal pineal volume','An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.'),('HP:0012685','Decreased pineal volume','An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.'),('HP:0012686','Increased pineal volume','An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.'),('HP:0012687','Agenesis of pineal gland','Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.'),('HP:0012688','Abnormality of pineal physiology','A functional abnormality of the pineal gland.'),('HP:0012689','Abnormal pineal melatonin secretion','An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.'),('HP:0012690','T2 hypointense thalamus','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.'),('HP:0012691','Focal T2 hypointense thalamic lesion','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.'),('HP:0012692','Focal T2 hyperintense thalamic lesion','A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.'),('HP:0012693','Abnormal thalamic size','Deviation from the normal range of size of the thalamus.'),('HP:0012694','Enlarged thalamic volume','An increase in the quantity of space occupied by the thalamus.'),('HP:0012695','Decreased thalamic volume','A reduction in the quantity of space occupied by the thalamus.'),('HP:0012696','Abnormal thalamic MRI signal intensity','A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.'),('HP:0012697','Small basal ganglia','Decreased size of the basal ganglia.'),('HP:0012698','Cerebellar gliosis','Focal proliferation of glial cells in the cerebellum.'),('HP:0012699','Anomaly of lower limb diaphyses','A structural abnormality of a diaphysis of the leg.'),('HP:0012700','Abnormal large intestine physiology','A functional anomaly of the large intestine.'),('HP:0012701','Bowel urgency','A sudden, irresistible need to have a bowel movement.'),('HP:0012702','Tenesmus','A repeated, painful urge to defecate without excreting stool.'),('HP:0012703','Abnormal subarachnoid space morphology','Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.'),('HP:0012704','Widened subarachnoid space','An increase in size of the anatomic space between the arachnoid membrane and pia mater.'),('HP:0012705','Abnormal metabolic brain imaging by MRS','An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012706','Elevated brain choline level by MRS','An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012707','Elevated brain lactate level by MRS','An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012708','Reduced brain N-acetyl aspartate level by MRS','A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012709','Abnormal brain choline/creatine ratio by MRS','A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012710','Ingrown nail','Excessive growth of a nail laterally into the nail fold.'),('HP:0012711','Delayed ossification of vertebral epiphysis','A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.'),('HP:0012712','Mild hearing impairment','The presence of a mild form of hearing impairment.'),('HP:0012713','Moderate hearing impairment','The presence of a moderate form of hearing impairment.'),('HP:0012714','Severe hearing impairment','A severe form of hearing impairment.'),('HP:0012715','Profound hearing impairment','A profound (essentially complete) form of hearing impairment.'),('HP:0012716','Moderate conductive hearing impairment','The presence of a moderate form of conductive hearing impairment.'),('HP:0012717','Severe conductive hearing impairment','A severe form of conductive hearing impairment.'),('HP:0012718','Morphological abnormality of the gastrointestinal tract','Abnormal structure of the gastrointestinal tract.'),('HP:0012719','Functional abnormality of the gastrointestinal tract','Abnormal functionality of the gastrointestinal tract.'),('HP:0012720','Neoplasm of the nose','Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.'),('HP:0012721','Venous malformation','A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.'),('HP:0012722','Heart block','Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.'),('HP:0012723','Sinoatrial block','Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.'),('HP:0012724','Upper eyelid edema','Edema in the region of the upper eyelid.'),('HP:0012725','Cutaneous syndactyly','A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.'),('HP:0012726','Episodic hypokalemia','An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.'),('HP:0012727','Thoracic aortic aneurysm','An abnormal localized widening (dilatation) of the thoracic aorta.'),('HP:0012728','Fusiform descending thoracic aortic aneurysm','A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall'),('HP:0012729','Saccular descending thoracic aortic aneurysm','An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall'),('HP:0012730','Aglossia','Absence of the tongue owing to a developmental abnormality.'),('HP:0012731','Ectopic anterior pituitary gland','Abnormal anatomic location of the anterior pituitary gland.'),('HP:0012732','Anorectal anomaly','An abnormality of the anus or rectum.'),('HP:0012733','Macule','A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.'),('HP:0012734','Ketotic hypoglycemia','Low blood glucose is accompanied by elevated levels of ketone bodies in the body.'),('HP:0012735','Cough','A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.'),('HP:0012736','Profound global developmental delay','A profound delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0012737','Small intestinal polyp','A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.'),('HP:0012738','Agenesis of canine','Agenesis of canine tooth.'),('HP:0012739','Agenesis of the small intestine','Failure to develop of the small intestine.'),('HP:0012740','Papilloma','A tumor of the skin or mucous membrane with finger-like projections.'),('HP:0012741','Unilateral cryptorchidism','Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.'),('HP:0012742','Thin fingernail','Fingernail that appears thin when viewed on end.'),('HP:0012743','Abdominal obesity','Excessive fat around the stomach and abdomen.'),('HP:0012744','Femoral aplasia','Failure of the femur to develop.'),('HP:0012745','Short palpebral fissure','Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.'),('HP:0012746','Thin toenail','Toenail that appears thin when viewed on end.'),('HP:0012747','Abnormal brainstem MRI signal intensity','A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.'),('HP:0012748','Focal T2 hyperintense brainstem lesion','A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.'),('HP:0012749','Focal T2 hypointense brainstem lesion','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.'),('HP:0012750','T2 hypointense brainstem','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.'),('HP:0012751','Abnormal basal ganglia MRI signal intensity','A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.'),('HP:0012752','Focal T2 hypointense basal ganglia lesion','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.'),('HP:0012753','T2 hypointense basal ganglia','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.'),('HP:0012754','CNS hypermyelination','Increased amount of myelin in the central nervous system.'),('HP:0012755','Enlarged brainstem','Abnormal increase in size of the brainstem.'),('HP:0012756','CSF polymorphonuclear pleocytosis','An increased polymorphonuclear cell count in the cerebrospinal fluid.'),('HP:0012757','Abnormal neuron morphology','A structural anomaly of a neuron.'),('HP:0012758','Neurodevelopmental delay',''),('HP:0012759','Neurodevelopmental abnormality','A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.'),('HP:0012760','Impaired social reciprocity','A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.'),('HP:0012761','Absent mastoid','A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.'),('HP:0012762','Cerebral white matter atrophy','The presence of atrophy (wasting) of the cerebral white matter.'),('HP:0012763','Paroxysmal dyspnea','A sudden attack of dyspnea that occurs while the affected person is at rest.'),('HP:0012764','Orthopnea','A sensation of breathlessness in the recumbent position, relieved by sitting or standing.'),('HP:0012765','Widened cerebellar subarachnoid space','An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.'),('HP:0012766','Widened cerebral subarachnoid space','An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.'),('HP:0012767','Abnormal placental size','A deviation from normal size of the placenta.'),('HP:0012768','Neonatal asphyxia','Respiratory failure in the newborn.'),('HP:0012769','Abnormal arm span','A deviation from normal of the length of the arm span (length from one end of an individual`s arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)'),('HP:0012770','Reduced arm span','Decreased length of the arm span (length from one end of an individual`s arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).'),('HP:0012771','Increased arm span','Increased length of the arm span (length from one end of an individual`s arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).'),('HP:0012772','Abnormal upper to lower segment ratio','A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.'),('HP:0012773','Reduced upper to lower segment ratio','Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.'),('HP:0012774','Increased upper to lower segment ratio','Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.'),('HP:0012775','Stellate iris','A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.'),('HP:0012776','Abnormal ciliary body morphology','A structural anomaly of the ciliary body.'),('HP:0012777','Retinal neoplasm','A tumor (abnormal growth of tissue) of the retina.'),('HP:0012778','Retinal astrocytic hamartoma','A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.'),('HP:0012779','Transient hearing impairment','Hearing loss that occurs acutely and resolves completely.'),('HP:0012780','Neoplasm of the ear','A tumor (abnormal growth of tissue) of the ear.'),('HP:0012781','Mid-frequency hearing loss','A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).'),('HP:0012782','Perilobar nephrogenic rest','A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.'),('HP:0012783','Intralobar nephrogenic rest','A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.'),('HP:0012784','Perinephritis','Inflammation of the connective and adipose tissues surrounding the kidney.'),('HP:0012785','Flexion contracture of finger','Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.'),('HP:0012786','Recurrent cystitis','Repeated infections of the urinary bladder.'),('HP:0012787','Recurrent pyelonephritis','Repeated episodes of pyelonephritis.'),('HP:0012788','Reticulate pigmentation of oral mucosa','A net-like pattern of increased pigmentation of the oral cavity.'),('HP:0012789','Hypoplasia of the calcaneus','Underdevelopment of the heel bone.'),('HP:0012790','Abnormal intramembranous ossification','An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.'),('HP:0012791','Abnormal humeral ossification','An anomaly of the process of formation of bone in the humerus.'),('HP:0012792','Absent ossification of thoracic vertebral bodies','A lack of bone mineralization of one or more body of thoracic vertebra.'),('HP:0012793','Kinked brainstem','A kinked appearance of the brainstem, i.e., an exaggerated flexure.'),('HP:0012794','Periventricular white matter hypodensities','Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.'),('HP:0012795','Abnormality of the optic disc','A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.'),('HP:0012796','Increased cup-to-disc ratio','An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.'),('HP:0012797','Lymphatic vessel neoplasm','A benign or malignant neoplasm arising from the lymphatic vessels.'),('HP:0012798','Pulmonary lymphangiomyomatosis','Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.'),('HP:0012799','Unilateral facial palsy','One-sided weakness of the muscles of facial expression and eye closure.'),('HP:0012800','Accessory cranial suture','A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.'),('HP:0012801','Narrow jaw','Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).'),('HP:0012802','Broad jaw','Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).'),('HP:0012803','Anisometropia','Inequality of refractive power of the two eyes.'),('HP:0012804','Corneal ulceration','Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.'),('HP:0012805','Iris transillumination defect','Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.'),('HP:0012806','Proboscis','A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.'),('HP:0012807','High insertion of columella','Insertion of the posterior columella superior to the nasal base.'),('HP:0012808','Abnormal nasal base','An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.'),('HP:0012809','Narrow nasal base','Decreased distance between the attachments of the alae nasi to the face.'),('HP:0012810','Wide nasal base','Increased distance between the attachments of the alae nasi to the face.'),('HP:0012811','Wide nasal ridge','Increased width of the nasal ridge.'),('HP:0012812','Fullness of paranasal tissue','Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.'),('HP:0012813','Unilateral breast hypoplasia','Underdevelopment of the breast on one side only.'),('HP:0012814','Bilateral breast hypoplasia','Underdevelopment of the breast on both sides.'),('HP:0012815','Hypoplastic female external genitalia','Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).'),('HP:0012816','Right ventricular noncompaction cardiomyopathy','A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.'),('HP:0012817','Noncompaction cardiomyopathy','A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.'),('HP:0012818','Biventricular noncompaction cardiomyopathy','Noncompaction cardiomyopathy that affects both ventricles.'),('HP:0012819','Myocarditis','Inflammation of the myocardium.'),('HP:0012820','Bilateral vocal cord paralysis','A loss of the ability to move the vocal fold on both sides.'),('HP:0012821','Unilateral vocal cord paresis','Decreased strength of the vocal fold on one side.'),('HP:0012822','Bilateral vocal cord paresis','Decreased strength of the vocal fold on both sides.'),('HP:0012823','Clinical modifier','This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.'),('HP:0012824','Severity','The intensity or degree of a manifestation.'),('HP:0012825','Mild','Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.'),('HP:0012826','Moderate','Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.'),('HP:0012827','Borderline','Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.'),('HP:0012828','Severe','Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.'),('HP:0012829','Profound','Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.'),('HP:0012830','Position','The anatomical localization of the specified phenotypic abnormality.'),('HP:0012831','Laterality','The localization with respect to the side of the body of the specified phenotypic abnormality.'),('HP:0012832','Bilateral','Being present on both sides of the body.'),('HP:0012833','Unilateral','Being present on only the left or only the right side of the body.'),('HP:0012834','Right','Being located on the right side of the body.'),('HP:0012835','Left','Being located on the left side of the body.'),('HP:0012836','Spatial pattern','The pattern by which a phenotype affects one or more regions of the body.'),('HP:0012837','Generalized','Affecting all regions without specificity of distribution.'),('HP:0012838','Localized','Being confined or restricted to a particular location.'),('HP:0012839','Distal','Localized away from the central point of the body.'),('HP:0012840','Proximal','Localized close to the central point of the body.'),('HP:0012841','Retinal vascular tortuosity','The presence of an increased number of twists and turns of the retinal blood vessels.'),('HP:0012842','Skin appendage neoplasm','A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.'),('HP:0012843','Hair follicle neoplasm','An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.'),('HP:0012844','Trichilemmoma','A benign tumour originating from the outer root sheath of the hair follicle.'),('HP:0012845','Single trichilemmoma','Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.'),('HP:0012846','Multiple trichilemmomata','Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.'),('HP:0012847','Epilepsia partialis continua','Epilepsia partialis continua (also called Kojevnikov`s or Kozhevnikov`s epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).'),('HP:0012848','Small intestinal stenosis','The narrowing or partial blockage of a portion of the small intestine.'),('HP:0012849','Small intestinal bleeding','Bleeding from the small intestine.'),('HP:0012850','Small intestinal dysmotility','Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.'),('HP:0012851','Colonic stenosis','A narrowing of a segment of colon whereby bowel continuity is maintained.'),('HP:0012852','Hepatic bridging fibrosis','Hepatic fibrosis that reaches from a portal area to another portal area.'),('HP:0012853','Scrotal hypospadias','Hypospadias with location of the urethral meatus in the scrotum.'),('HP:0012854','Midshaft hypospadias','Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.'),('HP:0012855','Scrotal hyperpigmentation','Increased pigmentation (skin color) of the scrotum.'),('HP:0012856','Abnormal scrotal rugation','Anomaly of the folded ridges (wrinkles) of skin of the scrotum.'),('HP:0012857','Increased scrotal rugation','Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.'),('HP:0012858','Decreased scrotal rugation','Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.'),('HP:0012859','Esophageal leukoplakia','A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.'),('HP:0012860','Testicular fibrosis','Formation of excess connective tissue in the testicle.'),('HP:0012861','Ovotestis','A gonad that contains both ovarian follicles and testicular tubular elements.'),('HP:0012862','Abnormal germ cell morphology','Any structural anomaly of a reproductive cell.'),('HP:0012863','Abnormal male germ cell morphology','A structural anomaly of a male reproductive cell.'),('HP:0012864','Abnormal sperm morphology','A structural anomaly of sperm.'),('HP:0012865','Sperm head anomaly','A structural abnormality of the sperm head.'),('HP:0012866','Sperm neck anomaly','A structural abnormality of the sperm neck.'),('HP:0012867','Sperm mid-piece anomaly','A structural abnormality of the sperm mid-piece.'),('HP:0012868','Sperm tail anomaly','A structural abnormality of the sperm tail.'),('HP:0012869','Acephalic spermatozoa','Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.'),('HP:0012870','Vanishing testis','A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.'),('HP:0012871','Varicocele','A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.'),('HP:0012872','Abnormal vas deferens morphology','A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.'),('HP:0012873','Absent vas deferens','Aplasia (congenital absence) of the vas deferens.'),('HP:0012874','Abnormal male reproductive system physiology','An abnormal functionality of the male genital system.'),('HP:0012875','Abnormal ejaculation','Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.'),('HP:0012876','Premature ejaculation','The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.'),('HP:0012877','Retrograde ejaculation','The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.'),('HP:0012878','Retarded ejaculation','Difficulty of a male in achieving orgasm.'),('HP:0012879','Anejaculation','Inability to ejaculate.'),('HP:0012880','Abnormality of the labia minora','An anomaly of the labia minora, the folds of skin between the outer labia.'),('HP:0012881','Abnormality of the labia majora','An anomaly of the outer labia.'),('HP:0012882','Hyperplastic labia majora','Overgrowth of the outer labia.'),('HP:0012883','Fallopian tube cyst','A fluid filled sac located in the Fallopian tube.'),('HP:0012884','Fallopian tube torsion','A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.'),('HP:0012885','Fallopian tube duplication','The presence of a supernumerary Fallopian tube.'),('HP:0012886','Hemorrhagic ovarian cyst','An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.'),('HP:0012887','Ovarian serous cystadenoma','A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.'),('HP:0012888','Abnormality of the uterine cervix','An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.'),('HP:0012889','Cervical endometriosis','Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.'),('HP:0012890','Posteriorly placed anus','Posterior malposition of the anus.'),('HP:0012891','High posterior hairline','Hair on the neck extends less inferiorly than usual.'),('HP:0012892','Facial muscle hypertrophy','Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0012893','Neck muscle hypertrophy','Muscle hypertrophy affecting the muscles of the neck.'),('HP:0012894','Paraspinal muscle hypertrophy','Muscle hypertrophy affecting the paraspinal muscles.'),('HP:0012895','Scapular muscle hypertrophy','Muscle hypertrophy affecting the scapular muscles.'),('HP:0012896','Abnormal motor evoked potentials','An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.'),('HP:0012897','Abnormal upper-limb motor evoked potentials','An anomaly identified by motor evoked potentials (MEPs) in the arm.'),('HP:0012898','Abnormal lower-limb motor evoked potentials','An anomaly identified by motor evoked potentials (MEPs) in the leg.'),('HP:0012899','Handgrip myotonia','Difficulty releasing one`s grip associated with prolonged first handgrip relaxation times.'),('HP:0012900','Myotonia of the face','Slowed relaxation of muscles in the face.'),('HP:0012901','Myotonia of the jaw','Slowed relaxation of muscles in the jaw.'),('HP:0012902','Myotonia of the lower limb','Slowed relaxation of muscles in the leg.'),('HP:0012903','Myotonia of the upper limb','Slowed relaxation of muscles in the arm.'),('HP:0012904','Cold-sensitive myotonia','An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.'),('HP:0012905','Euryblepharon','Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.'),('HP:0020006','Ciliary body coloboma','A coloboma of the ciliary body.'),('HP:0020034','Diffuse','A spatial pattern that is spread out, i.e., not localized.'),('HP:0020035','Lower limb dysmetria','A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.'),('HP:0020036','Upper limb dysmetria','A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.'),('HP:0020037','Astasia','A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.'),('HP:0020038','Vertebrobasilar dolichoectasia','Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.'),('HP:0020041','Double elevator palsy','A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.'),('HP:0020042','Double depressor palsy','An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.'),('HP:0020043','Vertical incomitant strabismus','A type of incomitant strabismus in which the angle of deviation varies as the patient`s gaze shifts upwards and/or downwards.'),('HP:0020044','Horizontal incomitant strabismus',''),('HP:0020045','Esodeviation','A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.'),('HP:0020046','Accommodative esotropia','A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.'),('HP:0020047','Abnormal myeloid cell morphology','Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.'),('HP:0020048','Reduced bone-marrow pro-B cell count','A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.'),('HP:0020049','Exodeviation','A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.'),('HP:0020050','Anti-granulocyte-macrophage colony stimulating factor antibody positivity','The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.'),('HP:0020054','Abnormal erythrocyte physiology','Any functional abnormality of erythrocytes (red-blood cells).'),('HP:0020058','Abnormal red blood cell count','Any deviation from the normal number of red blood cells per volume in the circulation.'),('HP:0020059','Increased red blood cell count','An abnormal elevation above the normal number of red blood cells per volume in the circulation.'),('HP:0020060','Decreased red blood cell count','An abnormal reduction below the normal number of red blood cells per volume in the circulation.'),('HP:0020061','Abnormal hemoglobin concentration','Any deviation from the normal concentration of hemoglobin in the blood.'),('HP:0020062','Decreased hemoglobin concentration','An abnormal reduction below normal hemoglobin concentration in the circulation.'),('HP:0020063','Increased hemoglobin concentration','An abnormal elevation above normal hemoglobin concentration in the circulation.'),('HP:0020064','Abnormal eosinophil count','Any deviation from the normal number of eosinophils per volume in the blood circulation.'),('HP:0020071','Viremia','The presence of virus in the blood.'),('HP:0020072','Persistent EBV viremia','Persistent presence of Epstein-Barr virus in the blood.'),('HP:0020073','Hypopigmented macule','A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.'),('HP:0020074','Crystalluria','The presence of crystals in the urine.'),('HP:0020075','Leucine crystalluria','The presence of leuucine crystals in the urine.'),('HP:0020076','Wrist ganglion','A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.'),('HP:0020077','Carnitinuria','An elevated level of carnitine in the urine.'),('HP:0020078','Alaninuria','An increased level of alanine in the urine.'),('HP:0020079','Beta-alaninuria','An increased level of beta-alanine in the urine.'),('HP:0020080','Erythrocyte inclusion bodies','Nuclear or cytoplasmic aggregates of substances in red blood cells.'),('HP:0020081','Pappenheimer bodies','A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).'),('HP:0020082','Heinz bodies','A type of erythrocyte inclusion composed of denatured hemoglobin.'),('HP:0020083','Furuncle','An infection of a hair follicle that extends subcutaneously, forming an abscess.'),('HP:0020084','Carbuncle','A group of infected hair follicles, larger and deeper than a furuncle.'),('HP:0020085','Infection following live vaccination','An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.'),('HP:0020086','BCGitis','Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.'),('HP:0020087','BCGosis','Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination.'),('HP:0020088','Post-vaccination measles','Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.'),('HP:0020089','Post-vaccination rubella','Infection with the rubella virus of the live-attenuated vaccine.'),('HP:0020090','Post-vaccination polio','Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.'),('HP:0020091','Post-vaccination rotavirus infection','Infection with live attenuated rotavirus vaccine following vaccination.'),('HP:0020093','Recurrent deep organ abscess formation','Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.'),('HP:0020095','Prolonged need of intravenous antibiotic therapy','Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.'),('HP:0020096','Recurrent streptococcal infections','Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.'),('HP:0020097','Infection due to encapsulated bacteria','An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.'),('HP:0020098','Herpes encephalitis','Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.'),('HP:0020099','Severe norovirus infection','An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.'),('HP:0020100','Unusual fungal infection','An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.'),('HP:0020101','Invasive fungal infection','Fungal infection characterized by invasion of host tissues.'),('HP:0020102','Pneumocystis jirovecii pneumonia','An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.'),('HP:0020103','Invasive pulmonary aspergillosis','Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.'),('HP:0020104','Unusual protozoan infection','An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.'),('HP:0020105','Severe toxoplasmosis','Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).'),('HP:0020106','Severe giardiasis','An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.'),('HP:0020107','Unusual helminthic infection','An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).'),('HP:0020108','Unusual parasitic infection','An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.'),('HP:0020110','Bone fracture','A partial or complete breakage of the continuity of a bone.'),('HP:0020111','Abnormal CD4+CD25+ regulatory T cell proportion','A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.'),('HP:0020112','Increased proportion of CD4+CD25+ regulatory T cells','An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.'),('HP:0020113','Decreased proportion of CD4+CD25+ regulatory T cells','An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.'),('HP:0020114','Persistent human papillomavirus infection','Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.'),('HP:0020117','Hypoplastic dermoepidermal hemidesmosomes','Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.'),('HP:0020118','Radial artery aplasia','Congenital absence of the radial artery.'),('HP:0020119','Abnormal retinal nerve fiber layer morphology','A structural abnormality of the retinal nerve fiber layer'),('HP:0020120','Retinal nerve fiber edema','Swelling (edema) of the retinal nerve fibers.'),('HP:0020121','Conception by assisted reproductive technology','A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.'),('HP:0020122','Bite cells','Red blood cells that appear to have parts of them bitten away.'),('HP:0020123','Tympanosclerosis','A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.'),('HP:0020125','Spontaneous conjunctival filtering bleb','Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.'),('HP:0020126','Prostate mass','A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.'),('HP:0020127','Periarticular soft-tissue mass','A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.'),('HP:0020128','Aplasia of the olfactory tract','Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.'),('HP:0020129','Abnormal urine protein level','Any deviation of the concentration of one or more proteins in the urine.'),('HP:0020130','Increased urinary neutrophil gelatinase-associated lipocalin','An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).'),('HP:0020131','Abnormal tubular basement membrane morphology','Abnormal structure of the basement membrane of the renal tubulus.'),('HP:0020132','Thickening of the tubular basement membrane','Increase in thickness of the basement membrane of the tubulus of the kidney.'),('HP:0020133','Podocyte hypertrophy','Increase in size of the podocytes of the renal glomerulus.'),('HP:0020134','Increased urine neutrophil count','Abnormally increased count of neutrophils in urine.'),('HP:0020135','Myofibromatosis','A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.'),('HP:0020136','Anticardiolipin IgG antibody positivity','The presence of circulating IgG autoantibodies to cardiolipin.'),('HP:0020137','Anticardiolipin IgM antibody positivity','The presence of circulating IgM autoantibodies to cardiolipin.'),('HP:0020138','History of recent animal bite','Medical history of a recent bite injury due to an animal.'),('HP:0020139','History of recent insect bite','Medical history of a recent bite injury due to an insect.'),('HP:0020140','History of recent tick bite','Medical history of a recent bite injury due to a tick.'),('HP:0020141','Blood pressure substantially higher in legs than arms','An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.'),('HP:0020142','Blood pressure substantially higher in arms than legs','An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.'),('HP:0020143','Tracheal duplication cyst','A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.'),('HP:0020144','Calcium phosphate crystalluria','The presence of calcium phosphate crystals in the urine.'),('HP:0020145','Calcium oxalate crystalluria','The presence of calcium oxalate crystals in the urine.'),('HP:0020146','Calcium carbonate crystalluria','The presence of calcium carbonate crystals in the urine.'),('HP:0020147','2-Methylbutyryl glycinuria','Increased concentration of 2-methylbutyryl glycine in the urine.'),('HP:0020148','Increased circulating mead acid level','An abnormally elevated concentration od mead acid in the blood circulation.'),('HP:0020149','Elevated circulating succinate','An increase concentration of succinate in the blood circulation.'),('HP:0020150','Elevated urinary uromodulin','An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.'),('HP:0020151','Anti-DNA antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against DNA.'),('HP:0020152','Distal joint laxity','Lack of stability of a distal joint (e.g., finger).'),('HP:0020153','Positive blood 1,3 beta glucan test','Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.'),('HP:0020154','Nevus comedonicus','A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.'),('HP:0020155','Abnormal oocyte morphology','An abnormal structure of the female germ cell (egg cell).'),('HP:0020156','Abnormal zona pellucida morphology','Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.'),('HP:0020157','Thin zona pellucida','Reduced thickness of the zona pellucida.'),('HP:0020158','Increased circulating adrenic acid concentration','An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.'),('HP:0020159','Reduced response to gonadotropin-releasing hormone stimulation test','Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.'),('HP:0020160','GM1-ganglioside accumulation','Cellular accumulation of GM1 gangliosides.'),('HP:0020161','Branch retinal artery occlusion','Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.'),('HP:0020163','Cilioretinal artery occlusion','Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.'),('HP:0020164','Ophthalmic artery occlusion','A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.'),('HP:0020165','Branch retinal vein occlusion','Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.'),('HP:0020166','Central retinal vein occlusion','Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.'),('HP:0020167','Hemiretinal vein occlusion','A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.'),('HP:0020169','Abnormal drug response','An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.'),('HP:0020170','Increased blood drug concentration','High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.'),('HP:0020171','Decreased blood drug concentration','Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.'),('HP:0020172','Adverse drug response','An unpleasant or harmful reaction resulting from treatment with a drug.'),('HP:0020173','Reduced drug efficacy','Decreased response to a drug intervention in comparison to the expected response.'),('HP:0020174','Refractory drug response','Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.'),('HP:0020175','Reduced cholinesterase level','A decreased amount of cholinesterase in the blood circulation.'),('HP:0020176','Cholesterol crystalluria',''),('HP:0020177','Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells','An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.'),('HP:0020178','Abnormal dendritic cell count','A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).'),('HP:0020179','Abnormal haptoglobin level','A deviation from the normal concentration of haptoglobin in the blood circulation.'),('HP:0020180','Elevated haptoglobin level','An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.'),('HP:0020181','Reduced haptoglobin level','An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.'),('HP:0020182','Abnormal A-type atrial natriuretic peptide level','A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.'),('HP:0020183','Increased circulating A-type natriuretic peptide level','A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.'),('HP:0020184','Decreased circulating A-type natriuretic peptide level','A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.'),('HP:0020185','Superior cerebellar dysplasia','Abnormal morphological development of the superior part of the cerebellum.'),('HP:0020186','Multilobulated spleen','The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.'),('HP:0020187','Thick pachygyria','Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.'),('HP:0020188','Anterior predominant pachygyria with 5-10 mm cortical thickness','Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.'),('HP:0020189','Posterior predominant thick cortex pachygyria','Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.'),('HP:0020190','Perisylvian predominant thick cortex pachygyria','Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.'),('HP:0020191','Anterior predominant thick cortex pachygyria','Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.'),('HP:0020192','Pachygyria with 5-10 mm cortical thickness','Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.'),('HP:0020193','Prolonged reptilase time','An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.'),('HP:0020194','IgA heavy chain paraproteinemia','An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0020195','IgG heavy chain paraproteinemia','An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0020196','IgM heavy chain paraproteinemia','An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0020197','Increased circulating arachidonic acid level','An increased circulation of arachidonic acid in the blood circulation.'),('HP:0020198','Abnormal circulating 18-hydroxycorticosterone level','Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.'),('HP:0020199','Decreased circulating 18-hydroxycortisone level','A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.'),('HP:0020200','Increased circulating 18-hydroxycortisone level','An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.'),('HP:0020201','Abnormal sarcomere morphology','Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.'),('HP:0020202','Abnormal Z disc morphology','Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.'),('HP:0020203','Z-band streaming','Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.'),('HP:0020204','Tubulointerstitial bacterial infiltration','Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.'),('HP:0020205','Tubulointerstitial fungal infiltration','Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.'),('HP:0020206','Simple ear','The pinna has fewer folds and grooves than usual.'),('HP:0020207','Reflex seizure','Seizures precipitated by exogenous stimuli.'),('HP:0020208','Eating-induced seizure','A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.'),('HP:0020209','Hot water-induced seizure','A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.'),('HP:0020210','Praxis-induced seizure','A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.'),('HP:0020211','Proprioceptive-induced seizure','A seizure precipitated by movement or a change in posture.'),('HP:0020212','Reading-induced seizure','A seizure precipitated by reading.'),('HP:0020213','Somatosensory-induced seizure','A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.'),('HP:0020214','Startle-induced seizure','Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.'),('HP:0020215','Thinking-induced seizure','Seizures induced by thinking and decision-making.\ncomment:'),('HP:0020216','Visually-induced seizure','Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.'),('HP:0020217','Focal motor aware seizure','A type of focal motor seizure in which awareness is retained throughout the seizure.'),('HP:0020218','Focal aware atonic seizure','A type of focal atonic seizure during which awareness is fully retained throughout.'),('HP:0020219','Motor seizure','A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.'),('HP:0020220','Focal atonic seizure','A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.'),('HP:0020221','Clonic seizure','A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.'),('HP:0025004','Hallux rigidus','Osteoarthritis of the metatarsophalangeal joint of the first toe.'),('HP:0025005','Thickening of glomerular capillary wall','Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.'),('HP:0025006','Abnormal glomerular capillary morphology','A structural anomaly of the capillary blood vessels in the renal glomerulus.'),('HP:0025007','Ectopic fovea','An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.'),('HP:0025008','Tracheal tug on inspiration','Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.'),('HP:0025009','Forward slanting upper incisors','The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.'),('HP:0025010','Foveal atrophy','Partial or complete loss of foveal tissue that was once present.'),('HP:0025011','Pyriform aperture stenosis','Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.'),('HP:0025012','Status cribrosum','Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.'),('HP:0025013','Decerebrate rigidity','A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.'),('HP:0025014','Subcutaneous spheroids','Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.'),('HP:0025015','Abnormal vascular morphology',''),('HP:0025016','Abnormal capillary morphology','A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.'),('HP:0025017','Capillary fragility','Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).'),('HP:0025018','Abnormal capillary physiology','A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.'),('HP:0025019','Arterial rupture','Sudden breakage of an artery leading to leakage of blood from the circulation.'),('HP:0025020','Elevated prostate-specific antigen level','An increased concentration of prostate specific antigen (PSA) in the circulation.'),('HP:0025021','Abnormal erythrocyte sedimentation rate','A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.'),('HP:0025022','Decreased erythrocyte sedimentation rate','A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.'),('HP:0025023','Rectal atresia','A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.'),('HP:0025024','Megarectum','An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.'),('HP:0025025','Rectovestibular fistula','A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.'),('HP:0025026','H-type rectovestibular fistula','Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.'),('HP:0025027','Osteoma cutis','The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.'),('HP:0025028','Abnormality of enteric nervous system morphology','A structural anomaly of nerves of the enteric nervous system.'),('HP:0025029','Abnormality of enteric neuron morphology',''),('HP:0025030','Enteric neuronal degeneration','Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.'),('HP:0025031','Abnormality of the digestive system',''),('HP:0025032','Abnormality of digestive system physiology','A functional anomaly of the digestive system.'),('HP:0025033','Abnormality of digestive system morphology','A structural anomaly of the digestive system.'),('HP:0025034','Abnormal morphology of erythroid progenitor cell','Abnormal form of the progenitor cells committed to the erythroid lineage.'),('HP:0025035','Abnormal proerythroblast morphology','Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.'),('HP:0025037','Hypothalamic gliosis','Focal proliferation of glial cells in the hypothalamus.'),('HP:0025038','Intratesticular abscess','A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.'),('HP:0025039','Basal ganglia edema','Swelling within the basal ganglia due to the accumulation of fluid.'),('HP:0025040','Thalamic edema','Swelling within the thalamus due to the accumulation of fluid.'),('HP:0025041','Thalamic calcification','Calcium deposition in the thalamus.'),('HP:0025042','Abnormality of mesenteric lymph nodes','A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.'),('HP:0025043','Enlarged mesenteric lymph node','Increase in size of one or more mesenteric lymph nodes.'),('HP:0025044','Lung abscess','A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.'),('HP:0025045','Abnormal brain lactate level by MRS','A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025046','Reduced brain lactate level by MRS','A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025047','Abnormal brain choline level by MRS','A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025048','Reduced brain choline level by MRS','An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025049','Abnormal brain creatine level by MRS',''),('HP:0025050','Elevated brain creatine level by MRS','An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025051','Reduced brain creatine level by MRS','A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025052','Abnormal brain N-acetyl aspartate level by MRS','A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025053','Elevated brain N-acetyl aspartate level by MRS','An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025057','Abnormality of olfactory lobe morphology','A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.'),('HP:0025058','Hypothalamic atrophy',''),('HP:0025059','Splenic abscess','A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.'),('HP:0025060','Multifocal splenic abscess','Multiple abscess lesions in the spleen.'),('HP:0025061','Unifocal splenic abscess','Single (solitary) abscess in the spleen.'),('HP:0025062','Geophagia','The practice of eating earth or soil-like substrates such as clay or chalk.'),('HP:0025063','Scaphoid abdomen','The anterior abdominal wall is sunken and presents a concave rather than a convex contour.'),('HP:0025064','Thalamic hemorrhage','Bleeding in the thalamus.'),('HP:0025065','Abnormal mean corpuscular volume','A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.'),('HP:0025066','Decreased mean corpuscular volume','A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).'),('HP:0025068','Incomitant strabismus','Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.'),('HP:0025069','Concomitant strabismus','Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.'),('HP:0025070','Abnormal U wave','An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.'),('HP:0025071','U wave inversion','Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.'),('HP:0025072','Prominent U wave','Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave.'),('HP:0025073','Exercise-induced U wave inversion','U wave inversion that is induced by exercise stress testing.'),('HP:0025074','Abnormal QRS complex','An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.'),('HP:0025075','Increased QRS voltage','Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).'),('HP:0025076','Abnormal QRS voltage','Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).'),('HP:0025077','Decreased QRS voltage','Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.'),('HP:0025078','Electrical alternans','The QRS complexes of the electrocardiogram alternate in height.'),('HP:0025079','Pancreatic abscess','A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.'),('HP:0025080','Orthokeratotic hyperkeratosis','A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.'),('HP:0025081','Darier`s sign','A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier`s sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.'),('HP:0025082','Abnormal cutaneous elastic fiber morphology','Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.'),('HP:0025083','Elevated dermal desmosine content','An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.'),('HP:0025084','Folliculitis','Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.'),('HP:0025085','Bloody diarrhea','Passage of many stools containing blood.'),('HP:0025086','Bloody mucoid diarrhea','Passage of many stools containing blood and mucus.'),('HP:0025087','Delayed recoil upon stretching of skin','Area of skin requiring an increased amount of time to return to its original shape after being stretched.'),('HP:0025088','Onychomadesis','Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.'),('HP:0025089','Feculent vomiting','Vomiting of material that is of fecal origin.'),('HP:0025090','Abnormal large intestinal mucosa morphology','A structural anomaly of the mucous lining of the large intestine.'),('HP:0025092','Epidermal acanthosis','Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).'),('HP:0025093','Peripapillary exudate','A retinal exudate in the area surrounding the optic nerve head.'),('HP:0025094','Disciform macular scar','A subretinal scar with a disc-like shape in the region of the macula.'),('HP:0025095','Sneeze','A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.'),('HP:0025096','Paroxysmal sneezing','Unprovoked explosive pathological sneezing.'),('HP:0025097','Eyelid myoclonus','Marked, involuntary jerking of the eyelids.'),('HP:0025098','Dysgenesis of the hypothalamus','Structural abnormality of the hypothalamus related to defective development.'),('HP:0025099','Dysgenesis of the thalamus','Structural abnormality of the thalamus related to defective development.'),('HP:0025100','Abnormal morphology of the hippocampus','Any structural anomaly of the hippocampus,'),('HP:0025101','Dysgenesis of the hippocampus','Structural abnormality of the hippocampus related to defective development.'),('HP:0025102','Dysgenesis of the basal ganglia','Structural abnormality of the basal ganglia related to defective development.'),('HP:0025103','Umbilicated nodule','A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).'),('HP:0025104','Capillary malformation','A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).'),('HP:0025105','Nevus anemicus','A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots.'),('HP:0025106','Nevus roseus','A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.'),('HP:0025107','Cutis marmorata telangiectatica congenita','A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.'),('HP:0025108','Angioma serpentinum','Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.'),('HP:0025109','Reduced red cell pyruvate kinase level','Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.'),('HP:0025110','Placoid macular lesion','Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.'),('HP:0025112','Sound sensitivity','Decreased tolerance to sound.'),('HP:0025113','Misophonia','An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.'),('HP:0025114','Hypergranulosis','Hypergranulosis is an increased thickness of the stratum granulosum.'),('HP:0025115','Civatte bodies','Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant'),('HP:0025116','Fetal distress','An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.'),('HP:0025117','Rete ridge flattening','Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.'),('HP:0025118','Lip discoloration','Lightening or darkening of the lips from their usual coloring.'),('HP:0025119','Violet lip discoloration','An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.'),('HP:0025121','obsolete Simple partial occipital seizures',''),('HP:0025122','Sawtooth acanthosis','A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.'),('HP:0025123','White streaks/specks on enamel.','Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.'),('HP:0025124','Fragile teeth','A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.'),('HP:0025125','White lesion of the oral mucosa','White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.'),('HP:0025126','Oral hairy leukoplakia','A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.'),('HP:0025127','Actinic keratosis','A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.'),('HP:0025128','Reduced intraabdominal adipose tissue','An abnormally reduced amount of adipose tissue in the abdominal cavity.'),('HP:0025129','Abnormal small intestinal mucosa morphology','A structural anomaly of the mucous lining of the small intestine.'),('HP:0025130','Decreased small intestinal mucosa lactase level','Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.'),('HP:0025131','Finger swelling','Enlargement of the soft tissues of one or more fingers.'),('HP:0025132','Abnormal circulating estrogen level','A deviation from normal concentration of the hormone estrogen in the blood circulation.'),('HP:0025133','Abnormal serum estradiol','A deviation from normal concentrations of estradiol in the circulation.'),('HP:0025134','Increased serum estradiol','An elevation above normal limits of the concentration of estradiol in the circulation.'),('HP:0025135','Abnormal serum estriol','A deviation from normal concentration of estriol in the circulation.'),('HP:0025136','Increased serum estriol','An elevation above normal limits of estriol concentration in the circulation.'),('HP:0025137','Decreased serum estriol','A reduction below normal limits of estriol in the circulation.'),('HP:0025138','Abnormal serum estrone','A deviation from the normal concentration of circulating estrone.'),('HP:0025139','Increased serum estrone','An elevation above normal limits of the concentration of estrone in the circulation.'),('HP:0025140','Decreased serum estrone','A reduction below normal limits of the concentration of estrone in the circulation.'),('HP:0025141','Gingival calcification','Ectopic deposition of calcium salts found in the gingiva.'),('HP:0025142','Constitutional symptom','A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.'),('HP:0025143','Chills','A sudden sensation of feeling cold.'),('HP:0025144','Shivering','Involuntary contraction or twitching of the muscles.'),('HP:0025145','Rigors','Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.'),('HP:0025146','Foveal degeneration','Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.'),('HP:0025147','Beaten bronze macular sheen','A shiny appearance of the macula, which is often called a beaten bronze appearance.'),('HP:0025148','Dark choroid','A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).'),('HP:0025149','Atrophic muscularis propria','Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.'),('HP:0025150','Hypoganglionosis','Sparse and small myenteric ganglia'),('HP:0025151','Ganglioneuromatosis','Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.'),('HP:0025152','Poor visual behavior for age','Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.'),('HP:0025153','Transient','Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.'),('HP:0025154','Portosystemic collateral veins','Presence of biliary veins that serve as a collateral channel to the systemic circulation'),('HP:0025155','Abnormality of hepatobiliary system physiology','A functional anomaly of the hepatobiliary system'),('HP:0025156','Dependency on intravenous nutrition','Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.'),('HP:0025157','Increased urinary sedoheptulose','An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.'),('HP:0025158','Hyperautofluorescent retinal lesion','Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.'),('HP:0025159','Hypoautofluorescent retinal lesion','Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.'),('HP:0025160','Abnormal temper tantrums','A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual.'),('HP:0025161','Frequent temper tantrums','Temper tantrums that occur more frequently than usual.'),('HP:0025162','Severe temper tantrums','Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes.'),('HP:0025163','Abnormality of optic chiasm morphology','A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.'),('HP:0025164','Increased number of elastic fibers in the dermis','An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.'),('HP:0025165','Clumping of elastic fibers in the dermis','Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).'),('HP:0025166','Thickened elastic fibers in the dermis','An increase of the diameter of elastic fibers in the dermis.'),('HP:0025167','Fragmented elastic fibers in the dermis','Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.'),('HP:0025168','Left ventricular diastolic dysfunction','Abnormal function of the left ventricule during left ventricular relaxation and filling.'),('HP:0025169','Left ventricular systolic dysfunction','Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.'),('HP:0025170','Neuronal/glioneuronal neoplasm of the central nervous system','A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.'),('HP:0025171','Rosette-forming glioneuronal tumor','A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.'),('HP:0025172','Smooth septal thickening on pulmonary HRCT','Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.'),('HP:0025173','Nodular septal thickening on pulmonary HRCT','Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.'),('HP:0025174','Irregular septal thickening on pulmonary HRCT','Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.'),('HP:0025175','Honeycomb lung','Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis.'),('HP:0025176','Intralobular interstitial thickening','A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.'),('HP:0025177','Peribronchovascular interstitial thickening','Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.'),('HP:0025178','Subpleural interstitial thickening','Increase in thickness of the subpleural interstitium.'),('HP:0025179','Ground-glass opacification on pulmonary HRCT','A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings.'),('HP:0025180','Centrilobular ground-glass opacification on pulmonary HRCT','A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.'),('HP:0025181','Abdominal aseptic abscess','An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.'),('HP:0025182','Localized area of pendulous skin','A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.'),('HP:0025186','Marcus Gunn jaw winking synkinesis','Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.'),('HP:0025188','Retinal vasculitis','Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.'),('HP:0025190','Bilateral tonic-clonic seizure with generalized onset','A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.'),('HP:0025191','obsolete Segmental myoclonic seizures',''),('HP:0025192','Subtentorial periventricular white matter hyperdensity','Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).'),('HP:0025193','Posterolateral diaphragmatic hernia','A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.'),('HP:0025194','Morgagni diaphragmatic hernia','An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.'),('HP:0025195','Central diaphragmatic hernia','A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.'),('HP:0025196','Increased total iron binding capacity','An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.'),('HP:0025197','Inclusion body fibromatosis','A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.'),('HP:0025198','Inflammatory cap polyp','A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.'),('HP:0025200','Muscle fiber actin filament accumulation',''),('HP:0025201','Abnormal apolipoprotein level','A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.'),('HP:0025202','Elevated apolipoprotein A-IV level','An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.'),('HP:0025203','Caput medusae','Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.'),('HP:0025204','Triggered by','A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.'),('HP:0025205','Triggered by breast feeding','Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.'),('HP:0025206','Triggered by cold','Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.'),('HP:0025207','Triggered by dehydration','Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.'),('HP:0025208','Triggered by carbohydrate ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.'),('HP:0025209','Triggered by fructose ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.'),('HP:0025210','Triggered by glucose ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.'),('HP:0025211','Triggered by ethanol ingestion','Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.'),('HP:0025212','Triggered by fasting','Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).'),('HP:0025213','Triggered by galactose ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.'),('HP:0025214','Triggered by heat','Applies to a sign or symptom that is provoked or brought about by exposure to heat.'),('HP:0025215','Triggered by febrile illness','Applies to a sign or symptom that is provoked or brought about by febrile illness.'),('HP:0025216','Triggered by heavy meal','Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.'),('HP:0025217','Triggered by high-fat diet','Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.'),('HP:0025218','Triggered by hyperventilation','Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.'),('HP:0025219','Triggered by vaccination','Applies to a sign or symptom that is provoked or brought about by a vaccination.'),('HP:0025220','Triggered by menstruation','Applies to a sign or symptom that is provoked or brought about by menstruation in a female.'),('HP:0025221','Triggered by pregnancy','Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.'),('HP:0025222','Triggered by sleep deprivation','Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.'),('HP:0025223','Triggered by smoking','Applies to a sign or symptom that is provoked or brought about by smoking.'),('HP:0025224','Triggered by sodium ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.'),('HP:0025225','Triggered by sound','Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.'),('HP:0025226','Triggered by stress','Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.'),('HP:0025227','Triggered by excitement','Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.'),('HP:0025228','Triggered by sudden movement','Applies to a sign or symptom that is provoked or brought about by a sudden movement.'),('HP:0025229','Triggered by vestibular stimulation','Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.'),('HP:0025230','Tendonitis','Inflammation of a tendon.'),('HP:0025231','Abnormality of synovial bursa morphology','A structural anomaly of a synovial bursa.'),('HP:0025232','Bursitis','Inflammation of a synovial bursa.'),('HP:0025233','Sleep paralysis','An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.'),('HP:0025234','Parasomnia','An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep.'),('HP:0025235','Non-rapid eye movement parasomnia','A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).'),('HP:0025236','Somnambulism','Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.'),('HP:0025237','Confusional arousal','A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.'),('HP:0025238','Foot pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.'),('HP:0025239','Subhyaloid hemorrhage','A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.'),('HP:0025240','Preretinal hemorrhage','An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.'),('HP:0025241','Flame-shaped retinal hemorrhage','A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).'),('HP:0025242','Dot-and-blot retinal hemorrhage','Accumulation of blood located in the retina`s inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.'),('HP:0025243','Subretinal hemorrhage','Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.'),('HP:0025244','Subretinal pigment epithelium hemorrhage','An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch`s membrane.'),('HP:0025245','Cutaneous cyst','A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.'),('HP:0025246','Trichilemmal cyst','Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.'),('HP:0025247','Dermoid cyst','A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm.'),('HP:0025248','Eruptive vellus hair cyst','A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.'),('HP:0025249','Comedo','A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).'),('HP:0025250','Closed comedo','A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.'),('HP:0025251','Open comedo','A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.'),('HP:0025252','Geographic tongue','An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.'),('HP:0025253','Claustrophobia','An abnormal fear of being in a closed or narrow space with no escape.'),('HP:0025254','Ameliorated by','An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable'),('HP:0025255','Ameliorated by pregnancy','Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.'),('HP:0025256','Ameliorated by heat','Applies to a sign or symptom that is improved or made more bearable by heat (including fever).'),('HP:0025257','Ameliorated by carbohydrate ingestion','Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).'),('HP:0025258','Stiff neck','A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.'),('HP:0025259','Stiff elbow','A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.'),('HP:0025260','Stiff wrist','A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.'),('HP:0025261','Stiff finger','A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.'),('HP:0025262','Stiff hip','A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.'),('HP:0025263','Stiff knee','A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.'),('HP:0025264','Stiff ankle','A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.'),('HP:0025265','Stiff toe','A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.'),('HP:0025266','Cervical osteoarthritis','Degeneration (wear and tear) of the articular cartilage of the neck joints.'),('HP:0025267','Snoring','Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.'),('HP:0025268','Stuttering','Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.'),('HP:0025269','Panic attack','A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying.'),('HP:0025270','Abnormality of esophagus physiology','Any physiological abnormality of the esophagus.'),('HP:0025271','Esophageal spasms','Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.'),('HP:0025272','Melasma','Symmetrical, blotchy, brownish facial pigmentation.'),('HP:0025273','Achilles tendonitis','Inflammation of the Achilles tendon.'),('HP:0025274','Ovarian dermoid cyst','An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.'),('HP:0025275','Lateral','Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.'),('HP:0025276','Abnormality of skin adnexa physiology','Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.'),('HP:0025277','Gustatory sweating','Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).'),('HP:0025278','Cold-induced sweating','Sweating provoked by cold temperature rather than by heat.'),('HP:0025279','Migratory',''),('HP:0025280','Pain characteristic','A pain characteristic is defined as a subjective category or type of pain.'),('HP:0025281','Sharp','Applied to pain that is described as sharp, i.e., sudden and severe.'),('HP:0025282','Dull','Applied to pain that is dull, i.e., not severe but that continues over a long period of time.'),('HP:0025283','Tender','Applied to pain that is tender, i.e., elicited by touching the affected body part.'),('HP:0025284','Sleep-interrupting','Applied to pain that wakes the affecting individual from sleep.'),('HP:0025285','Aggravated by','An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.'),('HP:0025286','Aggravated by activity','Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.'),('HP:0025287','Axial','Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.'),('HP:0025289','Cervical lymphadenopathy','Enlarged lymph nodes in the neck.'),('HP:0025290','Upper-body predominance','Applies to an abnormality that affects the arms, trunk, head more than the legs.'),('HP:0025291','Lower-body predominance','Applies to an abnormality that affects the legs more than the arms, trunk, head.'),('HP:0025292','Acral','Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).'),('HP:0025293','Distributed along Blaschko lines','Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body.'),('HP:0025294','Dermatomal','Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.'),('HP:0025295','Herpetiform','Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.'),('HP:0025296','Morbilliform','Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.'),('HP:0025297','Prolonged','Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).'),('HP:0025300','Malar rash','An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.'),('HP:0025301','Nocturnal','Applies to an abnormality that occurs in or is exacerbated during the night.'),('HP:0025302','Diurnal','Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.'),('HP:0025303','Episodic','Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.'),('HP:0025304','Periodic','Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.'),('HP:0025305','Quotidian','Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).'),('HP:0025306','Acute emergence over minutes','Acute appearance of disease manifestations in a period of minutes.'),('HP:0025307','Acute emergence over hours','Acute appearance of disease manifestations in a period of hours.'),('HP:0025308','Acute emergence over days','Acute appearance of disease manifestations in a period of days.'),('HP:0025309','Abnormal pupil shape','A deviation from the normal circular shape of the pupil'),('HP:0025310','Oval pupil','An abnormal pupil shape that is elliptical, i.e., egg-like.'),('HP:0025311','Anterior chamber cyst','A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.'),('HP:0025312','Esophoria','A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.'),('HP:0025313','Exophoria','A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.'),('HP:0025314','Choroidal nevus','A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.'),('HP:0025315','Exacerbated by head trauma','Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.'),('HP:0025317','Cubitus varus','A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.'),('HP:0025318','Ovarian carcinoma','A malignant neoplasm originating from the surface ovarian epithelium.'),('HP:0025319','Rubeosis iridis','Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.'),('HP:0025320','Leakage of dye on fundus fluorescein angiography','Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.'),('HP:0025321','Copper accumulation in liver','An anomalous build up of copper (Cu) in the liver.'),('HP:0025322','Venous occlusion','Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.'),('HP:0025323','Abnormal arterial physiology','An anomaly of arterial function.'),('HP:0025324','Arterial occlusion','Blockage of blood flow through an artery.'),('HP:0025325','Sparse medial eyebrow','Decreased density/number and/or decreased diameter of medial eyebrow hairs.'),('HP:0025326','Retinal arterial occlusion','Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.'),('HP:0025327','Decreased renal parenchymal thickness','Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.'),('HP:0025328','Antepartum hemorrhage','Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.'),('HP:0025329','Anti-glutamic acid decarboxylase antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.'),('HP:0025330','Downgaze palsy','A limitation of the ability to direct one`s gaze below the horizontal meridian.'),('HP:0025331','Upgaze palsy','A limitation of the ability to direct one`s gaze above the horizontal meridian.'),('HP:0025332','Abnormality of foot cortical bone','An anomaly of the outer shell (cortex) of a foot bone.'),('HP:0025333','Cortical thinning of foot bones','A reduction in the thickness of the outer shell (cortex) of foot bones.'),('HP:0025334','Triggered by emotion','Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).'),('HP:0025335','Delayed ability to stand','A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.'),('HP:0025336','Delayed ability to sit','A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.'),('HP:0025337','Red eye','A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.'),('HP:0025338','Circumlimbal hyperemia','A ring of redness at the limbus of the eye, the border between the cornea and the sclera.'),('HP:0025339','Superficial episcleral hyperemia','Prominence of blood vessels of the superficial episcleral tissues.'),('HP:0025340','Deep episcleral hyperemia','Prominence of blood vessels of the deep episcleral tissues.'),('HP:0025341','Corneal keratic precipitates','An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.'),('HP:0025342','Central retinal artery occlusion','Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.'),('HP:0025343','Lupus anticoagulant','Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.'),('HP:0025344','Interlobular bile duct destruction','Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).'),('HP:0025345','Abnormality of circulating beta-2-microglobulin level','A deviation from the normal concentration of beta-2-microglobulin in the blood.'),('HP:0025346','Increased circulating beta-2-microglobulin level','Elevated concentration of beta-2-microglobulin in the blood.'),('HP:0025347','Decreased circulating beta-2-microglobulin level','Reduced concentration of beta-2-microglobulin in the blood.'),('HP:0025348','Abnormality of the corneal limbus','An anomaly of the margin of the cornea overlapped by the sclera.'),('HP:0025349','Limbal edema','Swelling of the margin of the cornea overlapped by the sclera.'),('HP:0025350','Giant conjunctival papillae','Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.'),('HP:0025351','Recurrent interdigital mycosis','A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.'),('HP:0025352','Autosomal dominant germline de novo mutation','Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation.'),('HP:0025353','Anti-multiple nuclear dots antibody positivity','A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.'),('HP:0025354','Abnormal cellular phenotype','An anomaly of cellular morphology or physiology.'),('HP:0025355','Retinal arterial macroaneurysms','Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.'),('HP:0025356','Psychomotor retardation',''),('HP:0025357','Erratic myoclonus','A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.'),('HP:0025358','Uveal ectropion','Presence of iris pigment epithelium on the anterior surface of the iris.'),('HP:0025359','Polygonal renal calices','An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).'),('HP:0025360','Polycalycosis','Increased number of calices of the kidney.'),('HP:0025361','Abnormality of medullary pyramid morphology','A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.'),('HP:0025362','Renal medullary pyramid hypoplasia','Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.'),('HP:0025363','Endocapillary hypercellularity','Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.'),('HP:0025364','Extracapillary hypercellularity','Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.'),('HP:0025367','Trichoepithelioma','A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.'),('HP:0025368','Abnormality of growth plate morphology','A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).'),('HP:0025369','Thick growth plates','Increased thickness (dimension along the axis of the bone) of the growth plate.'),('HP:0025370','Abnormal ossification of the sacrum','Abnormal bone tissue formation (ossification) affecting the sacrum.'),('HP:0025371','Delayed ossification of the sacrum','Formation of the sacrum bone tissue occurs later than age-adjusted norms.'),('HP:0025372','Loud snoring','Particularly loud snoring, snoring at high volume.'),('HP:0025373','Interictal EEG abnormality','Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.'),('HP:0025374','Duplicated odontoid process','The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.'),('HP:0025375','Orthotopic os odontoideum','Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.'),('HP:0025376','Hyperglutaminuria','An increased concentration of glutamine in the urine.'),('HP:0025377','Triggered by exertion','Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.'),('HP:0025379','Anti-thyroid peroxidase antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.'),('HP:0025380','Increased serum androstenedione','Increased level of circulating 4-androstenedione.'),('HP:0025381','Anti-pituitary antibody positivity','Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.'),('HP:0025382','Hypodipsia','Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.'),('HP:0025383','Dorsocervical fat pad','An area of fat accumulation at the back of the neck in the form of a hump.'),('HP:0025384','Diet-resistant subcutaneous adipose tissue','Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.'),('HP:0025385','Diet-resistant subcutaneous adipose tissue below waist','Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.'),('HP:0025386','Bitemporal hollowing','Depression of profile in both temporal regions.'),('HP:0025387','Pill-rolling tremor','A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.'),('HP:0025388','Thyroid nodule','A nodular lesion that develops in the thyroid gland. The term \"thyroid nodule\" refers to any abnormal growth that forms a lump in the thyroid gland.'),('HP:0025389','Pulmonary interstitial high-resolution computed tomography abnormality','High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.'),('HP:0025390','Reticular pattern on pulmonary HRCT','On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.'),('HP:0025391','Crazy paving pattern on pulmonary HRCT','The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones.'),('HP:0025392','Nodular pattern on pulmonary HRCT','A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.'),('HP:0025393','Reticulonodular pattern on pulmonary HRCT','Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.'),('HP:0025394','Cystic pattern on pulmonary HRCT','On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.'),('HP:0025395','Combined cystic and ground-glass pattern on pulmonary HRCT','Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,'),('HP:0025396','Decreased attenuation pattern on pulmonary HRCT','Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.'),('HP:0025397','Mosaic attenuation pattern on pulmonary HRCT','A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.'),('HP:0025398','Nodular-perilymphatic pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.'),('HP:0025399','Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.'),('HP:0025400','Nodular-random pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.'),('HP:0025401','Staring gaze','An abnormality in which the eyes are held permanently wide open.'),('HP:0025402','Square-wave jerks','Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.'),('HP:0025403','Stooped posture','A habitual positioning of the body with the head and upper back bent forward.'),('HP:0025404','Abnormal visual fixation','Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.'),('HP:0025405','Visual fixation instability','A deficit in the ability to fixate eye movements in order to stabilize images on the retina'),('HP:0025406','Asthenia','A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.'),('HP:0025407','Rectourethral fistula','An abnormal connection (fistula) between the rectum and the urethra.'),('HP:0025408','Abnormal spleen morphology','Any anomaly of the structure of the spleen.'),('HP:0025409','Abnormal spleen physiology','Any anomaly of the function of the spleen.'),('HP:0025410','Splenogonadal fusion','Joining of the spleen and a gonad during embryological development.'),('HP:0025413','Fossa navicularis urethral stricture','A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.'),('HP:0025414','Pendulous urethral stricture','A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.'),('HP:0025415','Bulbar urethral stricture','A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.'),('HP:0025416','Vaginal stricture','A narrowing of the vagina owing to scar formation.'),('HP:0025417','Patulous urethra','Urethra more open or expanded than normal.'),('HP:0025418','Renal cortical necrosis','Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.'),('HP:0025419','Pulmonary pneumatocele','An air-filled cystic space within a lung.'),('HP:0025420','Diffuse alveolar hemorrhage','A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.'),('HP:0025421','Pneumomediastinum','The presence of free air in the mediastinum.'),('HP:0025422','Pleural cyst','A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.'),('HP:0025423','Abnormal larynx morphology','Any anomaly of the structure of the larynx.'),('HP:0025424','Abnormal larynx physiology','Any anomaly of the function of the larynx.'),('HP:0025425','Laryngospasm','A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.'),('HP:0025426','Abnormal bronchus morphology','Any anomaly of the morphology of the bronchi.'),('HP:0025427','Abnormal bronchus physiology','Any anomaly of the function of the bronchi.'),('HP:0025428','Bronchospasm','A spasm (sudden, involuntary constriction) of the bronchioles.'),('HP:0025429','Abnormal cry','Any anomaly of the vocalizing of an infant`s crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.'),('HP:0025430','High-pitched cry','A type of crying in an abnormally high-pitched voice.'),('HP:0025431','Staccato cry','A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.'),('HP:0025432','Acanthoma','A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.'),('HP:0025433','Decreased lecithin cholesterol acyl transferase level','Reduced level of the enzyme lecithin cholesterol acyl transferase.'),('HP:0025434','Reduced hemolytic complement activity','A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.'),('HP:0025435','Increased lactate dehydrogenase level','An elevated level of the enzyme lactate dehydrogenase in serum.'),('HP:0025436','Elevated serum 11-deoxycortisol','Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.'),('HP:0025437','Macrocephalic sperm head','Increased size of the head of sperm.'),('HP:0025439','Pharyngitis','Inflammation (due to infection or irritation) of the pharynx.'),('HP:0025440','Warm reactive autoantibody positivity','Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.'),('HP:0025441','Achilles tendon calcification','Ectopic deposition of calcium salts in the Achilles tendon.'),('HP:0025443','Abnormal cardiac atrial physiology','An abnormality of the function of the cardiac atria.'),('HP:0025444','Reduced amygdala volume','A decrease in the volume (size) of the amygdyla.'),('HP:0025445','Morphological abnormality of the papillary muscles','Any structural anomaly of the papillary muscles of the left ventricle.'),('HP:0025446','Anomalous insertion of papillary muscle directly into anterior mitral leaflet','A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.'),('HP:0025447','Displacement of the papillary muscles','Abnormal location of the insertion of a papillary muscle into the left ventricular wall.'),('HP:0025448','Anterior displacement of the papillary muscles','Abnormally anterior location of the papillary muscles of the left ventricle.'),('HP:0025449','Apically displaced anterolateral papillary muscle','Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,'),('HP:0025451','Testicular adrenal rest tumor','Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.'),('HP:0025452','Pyoderma gangrenosum','A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat`s paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.'),('HP:0025453','Delayed adrenarche','Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.'),('HP:0025454','Abnormal CSF metabolite level','Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.'),('HP:0025455','Decreased CSF 5-hydroxyindolacetic acid','CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal.'),('HP:0025456','Abnormal CSF protein level','Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.'),('HP:0025457','Decreased CSF protein','CSF total protein level is below the lower limit of normal.'),('HP:0025458','Decreased CSF albumin concentration',''),('HP:0025459','Increased CSF/serum albumin ratio','An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.'),('HP:0025460','High myoinositol in brain by MRS','An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025461','Abnormal cell morphology','Any anomaly of cell structure.'),('HP:0025462','obsolete Abnormal cellular physiology',''),('HP:0025463','Abnormality of redox activity','An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.'),('HP:0025464','Increased reactive oxygen species production','An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.'),('HP:0025465','Abnormal circulating beta globulin level','A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.'),('HP:0025466','Beta 2-microglobulinuria','Increased level of beta 2-microglobulins in the urine.'),('HP:0025469','Anagen effluvium','An abnormal loss of anagen (growth phase) hairs.'),('HP:0025470','Telogen effluvium','A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.'),('HP:0025471','Congenital panfollicular nevus','A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.'),('HP:0025472','Recurrent plantar mycosis','A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.'),('HP:0025473','Hyperpigmented papule','A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.'),('HP:0025474','Erythematous plaque','A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.'),('HP:0025475','Erythematous macule','A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.'),('HP:0025476','Testicular lipomatosis','Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.'),('HP:0025477','Periarticular calcification','Calcified deposits in soft tissue structures outside a joint.'),('HP:0025478','Atrial standstill','Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.'),('HP:0025479','Self-neglect','Neglecting one`s own needs and well-being.'),('HP:0025480','Lipomyelomeningocele','A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.'),('HP:0025481','Cervical hemivertebrae','Absence of one half of the vertebral body in the cervical spine.'),('HP:0025482','Positive perchlorate discharge test','An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.'),('HP:0025483','Abnormal circulating thyroglobulin level','A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.'),('HP:0025484','Increased circulating thyroglobulin level','An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.'),('HP:0025485','Vaginal adenosis','Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.'),('HP:0025486','Fused labia majora','The outer labia are sealed together.'),('HP:0025487','Abnormality of bladder morphology','Any structural anomaly of the bladder.'),('HP:0025488','Detrusor sphincter dyssynergia','A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.'),('HP:0025489','Bladder duplication','A congenital anomaly characterized by the presence of two bladders.'),('HP:0025490','Myocardial bridging','A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.'),('HP:0025491','Venous stenosis','Narrowing of a vein due to intimal hyperplasia and fibrosis.'),('HP:0025492','Microcoria','A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.'),('HP:0025493','Palmoplantar erythema','Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0025494','Coated aorta','Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans'),('HP:0025495','Descending aorta hypoplasia','Significant luminal narrowing of a long segment of the descending aorta.'),('HP:0025496','Abnormal coronary artery physiology','Any anomaly of the function of a coronary artery.'),('HP:0025497','Coronary artery spasm','A brief and sudden narrowing of a coronary artery.'),('HP:0025498','Aceruloplasminemia','Absence of ceruloplasmin in the blood.'),('HP:0025499','Class I obesity','Obesity with a body mass index of 30 to 34.9 kg per square meter.'),('HP:0025500','Class II obesity','Obesity with a body mass index of 35 to 39.9 kg per square meter.'),('HP:0025501','Class III obesity','Obesity with a body mass index of 40 kg per square meter or higher.'),('HP:0025502','Overweight','Increased body weight with a body mass index of 25-29.9 kg per square meter.'),('HP:0025503','Anomalous coronary artery arising from the opposite sinus','Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.'),('HP:0025505','Anomalous origin of the circumflex artery from the right sinus of Valsalva','The circumflex coronary artery originates from the right aortic sinus of Valsalva.'),('HP:0025506','Coronary artery sandwich anomaly','Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,'),('HP:0025507','Yellow papule','A papule with yellow color.'),('HP:0025508','Gottron`s papules','Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.'),('HP:0025509','Piezogenic pedal papules','Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.'),('HP:0025510','Nevus spilus','A tan, regularly bordered patch with darker macules within the lesion.'),('HP:0025511','Nevus sebaceus','A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.'),('HP:0025512','Skin-colored papule','A papule with the same color as the surrounding skin.'),('HP:0025513','Scleral rupture','Breakage of the sclera.'),('HP:0025514','Morning glory anomaly','An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.'),('HP:0025515','Delayed thelarche','Later than normal development of the breasts.'),('HP:0025516','Coronary-pulmonary artery fistula','A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.'),('HP:0025517','Hypoplastic hippocampus','Underdevelopment of the hippocampus.'),('HP:0025518','Visual gaze preference','An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.'),('HP:0025519','Multiple biliary hamartomas','Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.'),('HP:0025520','Calcinosis cutis','Deposition of calcium in the skin.'),('HP:0025521','Increased body fat percentage','The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.'),('HP:0025522','Elongated chordae tendinae of the mitral valve','Abnormal increased in length of the chordae tendinae of the mitral valve.'),('HP:0025523','Abnormal morphology of the chordae tendinae of the mitral valve','A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.'),('HP:0025524','Palmoplantar scaling skin','Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.'),('HP:0025525','Scaling skin on fingertip','Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.'),('HP:0025526','Psoriasiform lesion','A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.'),('HP:0025527','Serpiginous cutaneous lesion','A skin lesion with a snake- or serpent-like distribution.'),('HP:0025528','Annular cutaneous lesion','A lesion of the skin with a ring-like distribution.'),('HP:0025529','Hyperpigmented nodule','A nodule of the skin that exhibits an increased amount of pigmentation.'),('HP:0025530','Xanthomas of the palmar creases','The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.'),('HP:0025531','Harlequin phenomenon','The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.'),('HP:0025532','Positive pathergy test','With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.'),('HP:0025533','Peau d`orange',''),('HP:0025534','Ocular melanocytosis','A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.'),('HP:0025535','Shawl sign','Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.'),('HP:0025536','V-sign','Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.'),('HP:0025537','Plantar edema','An abnormal accumulation of fluid beneath the skin on sole of the foot.'),('HP:0025538','Palmar edema','An abnormal accumulation of fluid beneath the skin on the palm of the hand.'),('HP:0025539','Abnormal B cell subset distribution',''),('HP:0025540','Abnormal T cell subset distribution','Any abnormality in the proportion T cells subsets relative to the total number of T cells.'),('HP:0025541','obsolete Decreased activity of complement receptor',''),('HP:0025546','Abnormal mean corpuscular hemoglobin concentration','A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.'),('HP:0025547','Decreased mean corpuscular hemoglobin concentration','A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.'),('HP:0025548','Increased mean corpuscular hemoglobin concentration','An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).'),('HP:0025549','Eccentric visual fixation','A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.'),('HP:0025550','Elevated circulating ribitol concentration','An increase above the normal concentration of ribitol in the blood.'),('HP:0025551','Optic nerve misrouting','Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).'),('HP:0025552','Periorbital purpura','Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.'),('HP:0025553','Periorbital ecchymosis with tarsal plate sparing','Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.'),('HP:0025554','Yellow nodule','A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).'),('HP:0025555','Periungual teleangiectasia','Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.'),('HP:0025558','Lamellar cataract with riders','Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.'),('HP:0025559','Coronary cataract','A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.'),('HP:0025560','Anterior chamber cells','Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025561','Anterior chamber cells grade 1+','Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025562','Anterior chamber cells grade 0.5+','Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025563','Anterior chamber cells grade 0','Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025564','Anterior chamber cells grade 2+','Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025565','Anterior chamber cells grade 3+','Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025566','Anterior chamber cells grade 4+','Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025567','Central serous chorioretinopathy','An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.'),('HP:0025568','Abnormal morphology of the choroidal vasculature',''),('HP:0025569','Polypoidal choroidal vasculopathy','The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.'),('HP:0025570','Choroidal vascular hyperpermeability','Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).'),('HP:0025571','Christmas tree cataract','A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.'),('HP:0025572','Punctal stenosis','Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.'),('HP:0025573','Mild myopia','A mild form of myopia with up to -3.00 diopters.'),('HP:0025574','Macular hemorrhage',''),('HP:0025575','Abnormal superior vena cava morphology','Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.'),('HP:0025576','Abnormal inferior vena cava morphology','Any structural anomaly of the principal vein draining blood from the lower portion of the body.'),('HP:0025578','Aortic valve prolapse','Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.'),('HP:0025579','Abnormal left atrium morphology','Any structural abnormality of the left atrium.'),('HP:0025580','Abnormal right atrium morphology','Any structural abnormality of the right atrium.'),('HP:0025581','Foveal hemorrhage','Bleeding occurring within the fovea.'),('HP:0025582','Submacular hemorrhage','Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.'),('HP:0025583','Tapetal-like fundal reflex','Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this `metallic` sheen appearance as it is thought to be similar to the `tapetal` reflex seen in the eyes of certain animals.'),('HP:0025584','Hypotropia','A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.'),('HP:0025585','Hyperphoria','Tendency for the visual axis of one eye to be higher than that of the other.'),('HP:0025586','Hypertropia','A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.'),('HP:0025587','Hyperdeviation','A type of strabismus in which the visual axis of one eye is higher than that of the other.'),('HP:0025588','Hypodeviation','A type of strabismus in which the visual axis of one eye is lower than that of the other.'),('HP:0025589','Cyclodeviation','Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.'),('HP:0025590','Abnormal extraocular muscle physiology','A functional anomaly of the muscles of the eye.'),('HP:0025591','Abnormal superior oblique muscle physiology','A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.'),('HP:0025592','Superior oblique muscle weakness','Decreased strength of the superior oblique muscle.'),('HP:0025593','Superior oblique muscle restriction','Mechanical limitation of the range of movement of the superior oblique muscle.'),('HP:0025594','Superior oblique muscle overaction','An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.'),('HP:0025595','Superior oblique muscle underaction','Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0025596','Abnormal inferior oblique muscle physiology','A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.'),('HP:0025597','Inferior oblique muscle restriction','Mechanical limitation of the range of movement of the inferior oblique muscle.'),('HP:0025598','Inferior oblique muscle weakness','Decreased strength of the inferior oblique muscle.'),('HP:0025599','Inferior oblique muscle overaction','A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.'),('HP:0025600','Abnormal inferior rectus muscle physiology','A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.'),('HP:0025601','Inferior rectus muscle weakness','Decreased strength of the inferior rectus muscle.'),('HP:0025602','Inferior rectus muscle restriction','Mechanical limitation of the range of movement of the inferior rectus muscle.'),('HP:0025603','Abnormal superior rectus muscle physiology','A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.'),('HP:0025604','Orbital schwannoma','A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.'),('HP:0025605','Lid lag on downgaze','Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.'),('HP:0025606','Abnormal medial rectus muscle physiology','A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.'),('HP:0025607','Upper eyelid entropion','An inward turning (inversion) of the margin of the upper eyelid.'),('HP:0025608','Cicatricial ectropion','An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.'),('HP:0025609','Anterior blepharitis','A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.'),('HP:0025610','Posterior blepharitis','A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.'),('HP:0025611','Epicanthus superciliaris','A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).'),('HP:0025612','Corneal astigmatism','A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.'),('HP:0025613','Focal emotional seizure','Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.'),('HP:0025615','Abscess',''),('HP:0025616','Sterile abscess','An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.'),('HP:0025617','Abnormal plasma cell count','An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.'),('HP:0025618','Reduced plasma cell count','An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.'),('HP:0025619','Elevated plasma cell count','An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.'),('HP:0025620','Abnormal proportion of CD4+ central memory cells','An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.'),('HP:0025621','obsolete Increased proportion of CD4+ central memory cells',''),('HP:0025622','obsolete Decreased proportion of CD4+ central memory cells',''),('HP:0025623','Abnormal proportion of CD4+ effector memory cells','An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0025624','Reduced proportion of CD4+ effector memory T cells','An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0025625','Elevated proportion of CD4+ effector memory T cells','An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.'),('HP:0025626','Increased circulating oleate level','An abnormally high concentration of oleic acid (oleate) in the blood circulation.'),('HP:0025627','Increased circulating octadecanoate level','An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).'),('HP:0025628','Increased circulating myristoleate level','An abnormally high concentration of myristoleate in the blood circulation.'),('HP:0025629','Anti-myelin-associated glycoprotein antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).'),('HP:0025630','Argininosuccinic aciduria','Increased amount of argininosuccinate in the urine.'),('HP:0025631','Alpha-aminobutyric aciduria','Increased amount of alpha-aminobutyric acid in the urine.'),('HP:0025632','Reduced reactive oxygen species production in neutrophils',''),('HP:0025633','Abnormal ureter morphology','A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.'),('HP:0025634','Abnormal ureter physiology','A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.'),('HP:0025635','Ureteral polyp','A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.'),('HP:0025636','Endometritis','Inflammation of the inner lining of the uterus (endometrium).'),('HP:0025637','Vasospasm','Narrowing of an artery due to constriction of the blood vessels.'),('HP:0025638','Elevated urinary N-butyrylglycine','An increased level of N-butyrylglycine in the urine.'),('HP:0025639','Increased urinary zinc level','An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.'),('HP:0025640','Abnormal urinary mineral level','An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.'),('HP:0025641','Elevated circulating glycolate concentration','An abnormally increased concentration of glycolate in the blood circulation.'),('HP:0025643','Tarlov cyst','A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.'),('HP:0030000','EMG: repetitive nerve stimulation abnormality','Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.'),('HP:0030001','Lagopthalmos','A condition in which the eyelids do not close to cover the eye completely.'),('HP:0030002','Nocturnal lagophthalmos','The inability to close the eyelids during sleep.'),('HP:0030003','Paralytic lagophthalmos','A type of lagophthalmos that occurs in association with facial nerve palsy.'),('HP:0030004','Cicatricial lagophthalmos','A type of lagophthalmos that occurs following trauma or surgery.'),('HP:0030005','Capillary leak','An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.'),('HP:0030006','Single fiber EMG abnormality','Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.'),('HP:0030007','EMG: positive sharp waves','These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.'),('HP:0030008','Cervical agenesis','Congenital absence of the cervix.'),('HP:0030009','Cervical insufficiency','A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent'),('HP:0030010','Hydrometrocolpos','Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.'),('HP:0030011','Imperforate hymen','A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.'),('HP:0030012','Abnormal female reproductive system physiology',''),('HP:0030013','obsolete Endometriosis',''),('HP:0030014','Female sexual dysfunction','A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity'),('HP:0030015','Female anorgasmia','The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.'),('HP:0030016','Dyspareunia','Recurrent or persistent genital pain associated with sexual intercourse.'),('HP:0030017','Vaginismus','Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.'),('HP:0030018','Decreased female libido','Dminished sexual desire in female.'),('HP:0030019','Increased female libido','Elevated sexual desire in female'),('HP:0030021','Auricular tag','Small protrusion within the pinna.'),('HP:0030022','Question mark ear','Cleft between the helix and the lobe.'),('HP:0030023','Quelprud nodule','Small cartilaginous prominence on the posterior concha.'),('HP:0030024','Pretragal ectopia','Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.'),('HP:0030025','Auricular pit','Small indentation in the lower part of the ascending helix, concha, or in the crus helix.'),('HP:0030026','Squared superior portion of helix','Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.'),('HP:0030027','Abnormality of the nasal cartilage','A morphological anomaly of the nasal cartilage.'),('HP:0030028','Absent nasal cartilage','Lack of a palpable nasal cartilage.'),('HP:0030029','Splayed fingers','Divergence of digits along the A/P axis (in the plane of the palm).'),('HP:0030030','Absent ray','The absence of all phalanges of a digit and the associated metacarpal /metatarsal.'),('HP:0030031','Small toe','Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.'),('HP:0030032','Partial absence of foot','An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.'),('HP:0030033','Small finger','Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.'),('HP:0030034','Diffuse glomerular basement membrane lamellation','Presence of abnormal additional layers of the basement membrane of the glomerulus.'),('HP:0030035','Struvite nephrolithiasis','Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).'),('HP:0030036','Isothenuria','Inability of the kidneys to produce either concentrated or dilute urine.'),('HP:0030037','Bifid ureter','Incomplete duplication of the ureter.'),('HP:0030038','Enchondroma','A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.'),('HP:0030039','Fused thoracic vertebrae','A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.'),('HP:0030040','Fused lumbar vertebrae','A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.'),('HP:0030041','Schmorl`s node','A Schmorl`s node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.'),('HP:0030042','Incomplete ossification of pubis','Failure to complete ossification (maturation and calcification) of the pubic bone.'),('HP:0030043','Hip subluxation','A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.'),('HP:0030044','Flexion contracture of digit','A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.'),('HP:0030045','Serpentine fibula','Elongated curved (S-shaped) fibulae.'),('HP:0030046','Hypoglycosylation of alpha-dystroglycan','A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.'),('HP:0030047','Abnormality of lateral ventricle','A morphological anomaly of the lateral ventricle.'),('HP:0030048','Colpocephaly','Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.'),('HP:0030049','Brain abscess','A collection of pus, immune cells, and other material in the brain.'),('HP:0030050','Narcolepsy','An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.'),('HP:0030051','Tip-toe gait','An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.'),('HP:0030052','Inguinal freckling','The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.'),('HP:0030053','Stiff skin','An induration (hardening) of the skin'),('HP:0030054','Perifollicular fibrosis','Presence of excess fibrous connective tissue surrounding hair follicules.'),('HP:0030055','Hyperconvex toenail','When viewed on end (with the tip of the toe pointing toward the examiner`s eye) the curve of the toenail forms a tighter curve of convexity.'),('HP:0030056','Uncombable hair','Hair that is disorderly, stands out from the scalp, and cannot be combed flat.'),('HP:0030057','Autoimmune antibody positivity','The presence of an antibody in the blood circulation that is directed against the organism`s own cells or tissues.'),('HP:0030058','Sickled erythrocytes','An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).'),('HP:0030059','Mitochondrial depletion','An abnormal reduction in mitochondrial DNA content of cells.'),('HP:0030060','Nervous tissue neoplasm','A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).'),('HP:0030061','Neuroectodermal neoplasm','A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.'),('HP:0030062','Craniopharyngioma','A benign pituitary-region neoplasm that originates from Rathke`s pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system.'),('HP:0030063','Neuroepithelial neoplasm','A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.'),('HP:0030064','Neurocytoma','A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.'),('HP:0030065','Primitive neuroectodermal tumor','A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.'),('HP:0030066','Ependymoblastoma','A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.'),('HP:0030067','Peripheral primitive neuroectodermal neoplasm','A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.'),('HP:0030068','Olfactory esthesioneuroblastoma','A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.'),('HP:0030069','Primary central nervous system lymphoma','A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.'),('HP:0030070','Central primitive neuroectodermal tumor','A primitive neuroectodermal neoplasm that occurs in the central nervous system.'),('HP:0030071','Medulloepithelioma','A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.'),('HP:0030072','Paranasal sinus neoplasm','A tumor that originates in the paranasal sinus.'),('HP:0030073','obsolete Pharyngeal neoplasm',''),('HP:0030074','Chemodectoma','A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.'),('HP:0030075','Ductal carcinoma in situ','Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.'),('HP:0030076','Lobular carcinoma in situ',''),('HP:0030077','Bronchial neoplasm','A tumor originating in a bronchus.'),('HP:0030078','Lung adenocarcinoma',''),('HP:0030079','Cervix cancer','A tumor of the uterine cervix.'),('HP:0030080','Burkitt lymphoma','A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.'),('HP:0030081','Punctate periventricular T2 hyperintense foci','Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.'),('HP:0030082','Abnormal drinking behavior','Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.'),('HP:0030083','Salt craving','An excessive desire to eat salt (sodium chloride) or salty foods.'),('HP:0030084','Clinodactyly','An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).'),('HP:0030085','Abnormal CSF lactate level','Abnormal concentration of lactate in the cerebrospinal fluid.'),('HP:0030086','Reduced CSF lactate','Decreased concentration of lactate in the cerebrospinal fluid.'),('HP:0030087','Abnormal serum testosterone level','An anomalous concentration of testosterone in the blood.'),('HP:0030088','Increased serum testosterone level','An elevated circulating testosterone level in the blood.'),('HP:0030089','Abnormal muscle fiber protein expression','An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.'),('HP:0030090','Abnormal muscle fiber merosin expression','An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.'),('HP:0030091','Absent muscle fiber merosin','Lack of merosin protein in the muscle biopsy.'),('HP:0030092','Reduced muscle fiber merosin','A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.'),('HP:0030093','Abnormal muscle fiber laminin beta 1','A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.'),('HP:0030094','Reduced muscle fiber laminin beta 1','A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.'),('HP:0030095','Reduced muscle collagen VI','A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.'),('HP:0030096','Abnormal muscle fiber dystrophin expression','A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.'),('HP:0030097','Absent muscle dystrophin expression','Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.'),('HP:0030098','Reduced muscle dystrophin expression','A decreased amount of dystrophin in muscle fiber tissue.'),('HP:0030099','Reduced muscle fiber alpha dystroglycan','Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.'),('HP:0030100','Abnormal muscle fiber alpha sarcoglycan','Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030101','Absent muscle fiber alpha sarcoglycan','Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.'),('HP:0030102','Reduced muscle fiber alpha sarcoglycan','A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.'),('HP:0030103','Abnormal muscle fiber beta sarcoglycan','Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030104','Abnormal muscle fiber gamma sarcoglycan','Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030105','Abnormal muscle fiber delta sarcoglycan','Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030106','Absent muscle fiber beta sarcoglycan','Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.'),('HP:0030107','Reduced muscle fiber beta sarcoglycan','Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.'),('HP:0030108','Reduced muscle fiber gamma sarcoglycan','Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.'),('HP:0030109','Absent muscle fiber gamma sarcoglycan','Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.'),('HP:0030110','Absent muscle fiber delta sarcoglycan','Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.'),('HP:0030111','Reduced muscle fiber delta sarcoglycan','Abnormally reduced amount of delta sarcoglycan in muscle.'),('HP:0030112','Abnormal muscle fiber alpha dystroglycan','A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.'),('HP:0030113','Abnormal muscle fiber dysferlin','A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing.'),('HP:0030114','Absent muscle fiber dysferlin','Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.'),('HP:0030115','Reduced muscle fiber dysferlin','Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.'),('HP:0030116','Abnormal muscle fiber emerin','A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.'),('HP:0030117','Absent muscle fiber emerin','Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.'),('HP:0030118','Reduced muscle fiber emerin','Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.'),('HP:0030119','Abnormal muscle fiber calpain-3','A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.'),('HP:0030120','Absent muscle fiber calpain-3','Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.'),('HP:0030121','Reduced muscle fiber calpain-3','Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.'),('HP:0030122','Reduced muscle fiber perlecan','Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).'),('HP:0030123','Abnormal muscle fiber lamin A/C','A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.'),('HP:0030124','Reduced muscle fiber lamin A/C','A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.'),('HP:0030125','Sacralization of the fifth lumbar vertebra','A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.'),('HP:0030126','Abnormality of the endometrium','An anomaly of the inner mucous membrane of the uterus.'),('HP:0030127','Endometriosis','The growth of endometrial tissue outside the uterus.'),('HP:0030129','Impaired ristocetin cofactor assay activity','Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.'),('HP:0030130','Impaired von Willibrand factor collagen binding activity','Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.'),('HP:0030131','Abnormal von Willebrand factor multimer distribution','Deviation from the normal von Willebrand factor multimer pattern.'),('HP:0030132','Absence of large von Willibrand factor multimers','Absence of large von Willebrand Factor multimers on gel electrophoresis.'),('HP:0030133','Abnormal presence of ultra-large von Willebrand factor multimers','Detection of abnormal ultra-large von Willebrand factor multimers.'),('HP:0030134','Total absence von Willebrand factor multimers','Complete absence of all von Willebrand factor multimers.'),('HP:0030135','Absence of intermediate von Willibrand factor multimers','Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.'),('HP:0030136','Enhanced ristocetin cofactor assay activity','Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.'),('HP:0030137','Prolonged bleeding following circumcision','Bleeding that persists for a longer than usual time following circumcision.'),('HP:0030138','Excessive bleeding from superficial cuts','An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.'),('HP:0030139','Excessive bleeding after a venipuncture','An abnormal high amount of bleeding following the procedure of taking a blood sample.'),('HP:0030140','Oral cavity bleeding','Recurrent or excessive bleeding from the mouth.'),('HP:0030141','Abnormality of the posterior hairline','An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.'),('HP:0030142','Abnormal bowel sounds','An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.'),('HP:0030143','Hyperactive bowel sounds','An increased amount of bowel sounds.'),('HP:0030144','Hypoactive bowel sounds','An decreased amount of bowel sounds.'),('HP:0030145','Lack of bowel sounds','Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.'),('HP:0030146','Abnormal liver parenchyma morphology','A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.'),('HP:0030147','Truncal titubation','Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.'),('HP:0030148','Heart murmur','An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.'),('HP:0030149','Cardiogenic shock','Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.'),('HP:0030150','Plasmacytosis','An abnormally increased number of plasma cells in tissues, exudates, or blood'),('HP:0030151','Cholangitis','Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.'),('HP:0030152','obsolete Biliary tract neoplasm',''),('HP:0030153','Cholangiocarcinoma','Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.'),('HP:0030154','Gallbladder perforation','Rupture of the wall of the gallbladder.'),('HP:0030155','Scrotal pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.'),('HP:0030156','Bence Jones Proteinuria','The presence of free monoclonal immunoglobulin light chains in the urine.'),('HP:0030157','Flank pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.'),('HP:0030158','Cervical ectropion','Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu'),('HP:0030159','Cervical polyp','Abnormal growth of tissue projecting from a mucous membrane of the endocervix.'),('HP:0030160','Cervicitis','Inflammation of the uterine cervix.'),('HP:0030161','Vaginal pruritus','A sensation of itching in the vagina.'),('HP:0030162','Glomerulomegaly','Abnormally large size of glomeruli.'),('HP:0030163','Abnormal vascular physiology','Abnormality of vascular function.'),('HP:0030164','Jaw claudication','Pain in the jaw or ear induced by chewing or otherwise moving the jaw.'),('HP:0030165','Temporal artery tortuosity','The presence of an increased number of twists and turns of the temporal artery.'),('HP:0030166','Night sweats','Occurence of excessive sweating during sleep.'),('HP:0030167','Antimitochondrial antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.'),('HP:0030168','Dilated superficial abdominal veins','Increase in diameter of the veins located underneath the skin of the abdomen.'),('HP:0030169','Gastric varix','Extreme dilation of the submucusoal veins in the stomach.'),('HP:0030170','Cystic artery pseudoaneurysm','Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.'),('HP:0030171','Perirenal hematoma','A collection of clotted blood surrounding the kidney.'),('HP:0030172','Peripheral amyelination','Congenital absence of the myelin sheath on a nerve.'),('HP:0030173','Peripheral hypermyelination','Increased amount of peripheral myelination.'),('HP:0030174','Increased peripheral myelin thickness','Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.'),('HP:0030175','Myelin tomacula','The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).'),('HP:0030176','Asymmetric peripheral demyelination','Loss of myelin from peripheral nerves in a pattern that differs between right and left.'),('HP:0030177','Abnormality of peripheral nervous system electrophysiology','An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.'),('HP:0030178','Abnormality of central nervous system electrophysiology',''),('HP:0030179','Abnormal peripheral action potential amplitude','An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.'),('HP:0030180','Oppenheim reflex','Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).'),('HP:0030181','Gordon reflex','Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).'),('HP:0030182','Tetraplegia/tetraparesis','Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.'),('HP:0030183','Impaired visually enhanced vestibulo-ocular reflex','The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).'),('HP:0030185','Isometric tremor','An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).'),('HP:0030186','Kinetic tremor','Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.'),('HP:0030187','Titubation','Nodding movement of the head or body.'),('HP:0030188','Tremor by anatomical site','Tremor classified by the affected body part.'),('HP:0030190','Oral motor hypotonia','Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.'),('HP:0030191','Abnormal peripheral nervous system synaptic transmission','An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.'),('HP:0030192','Fatigable weakness of bulbar muscles','A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030193','Fatigable weakness of chewing muscles','A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030194','Fatigable weakness of speech muscles','A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030195','Fatigable weakness of swallowing muscles','A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030196','Fatigable weakness of respiratory muscles','A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030197','Fatigable weakness of skeletal muscles','A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030198','Fatigable weakness of distal limb muscles','A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030199','Fatigable weakness of neck muscles','A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030200','Fatiguable weakness of proximal limb muscles','A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030201','Response to drugs acting on neuromuscular transmission','Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.'),('HP:0030202','Favorable response of weakness to acetylcholine esterase inhibitors','Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.'),('HP:0030203','Unfavorable response of muscle weakness to acetylcholine esterase inhibitors','Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.'),('HP:0030205','Increased jitter at single fiber EMG','The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).'),('HP:0030206','EMG: incremental response of compound muscle action potential to repetitive nerve stimulation','A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.'),('HP:0030207','Paradoxical respiration','Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.'),('HP:0030208','Acetylcholine receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor.'),('HP:0030209','Calcium channel antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.'),('HP:0030210','Muscle specific kinase antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).'),('HP:0030211','Slow pupillary light response','Reduced velocity and acceleration in the pupillary light response.'),('HP:0030212','Collectionism','Excessive or pathological tendency to save and collect possessions.'),('HP:0030213','Emotional blunting','Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.'),('HP:0030214','Hypersexuality','Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.'),('HP:0030215','Inappropriate crying','Uncontrolled episodes of crying, without apparent motivating stimuli.'),('HP:0030216','Inertia','Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).'),('HP:0030217','Limb apraxia','Difficulty in performing the correct execution of limbs movements in absence of motor impairment.'),('HP:0030218','Punding','Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.'),('HP:0030219','Semantic dementia','A progressive loss of the ability to remember the meaning of words, faces and objects.'),('HP:0030220','Socially inappropriate behavior','Behavior that is not in line with social norms.'),('HP:0030221','Sweet craving','Excessive desire to eat sweet foods.'),('HP:0030222','Visual agnosia','Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.'),('HP:0030223','Perseveration','Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact.'),('HP:0030224','Abnormal muscle fiber desmin','A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein.'),('HP:0030225','Accumulation of muscle fiber desmin','Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.'),('HP:0030226','Abnormal muscle fiber myotilin','A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein.'),('HP:0030227','Accumulation of muscle fiber myotilin','Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.'),('HP:0030228','Abnormal muscle fiber valosin-containing protein','A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.'),('HP:0030229','Accumulation of muscle fiber valosin-containing protein','Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.'),('HP:0030230','Central core regions in muscle fibers','The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.'),('HP:0030231','Glycogen accumulation in muscle fiber lysosomes','An increased amount of glycogen in muscle tissue found specifically in lysosomes.'),('HP:0030232','Increased sarcoplasmic glycogen','Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.'),('HP:0030233','Bethlem sign','Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.'),('HP:0030234','Highly elevated creatine kinase','An increased CPK level between 4X and 50X above the upper normal level.'),('HP:0030235','Extremely elevated creatine kinase','An increased creatine kinase level more than 50X above the upper normal level.'),('HP:0030236','Abnormality of muscle size','Abnormalities of the overall muscle bulk based on clinical observation.'),('HP:0030237','Hand muscle weakness','Reduced strength of the musculature of the hand.'),('HP:0030239','Hypoplasia of the upper arm musculature','Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.'),('HP:0030241','Hypoplasia of deltoid muscle','Underdevelopment of the deltoid muscle.'),('HP:0030242','Portal vein thrombosis','Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.'),('HP:0030243','Hepatic vein thrombosis','An obstruction in the veins of the liver caused by a blood clot (thrombosis).'),('HP:0030244','Maternal fever in pregnancy','The occurence of an elevated body temperature of the mother during pregnancy.'),('HP:0030245','Intrapartum fever','The occurence of maternal fever during labor.'),('HP:0030246','Maternal first trimester fever','The occurence of fever in a mother during the first trimester of pregnancy.'),('HP:0030247','Splanchnic vein thrombosis','The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).'),('HP:0030248','Mesenteric venous thrombosis','A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).'),('HP:0030249','Enanthema','A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.'),('HP:0030250','Pulmonary granulomatosis','The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.'),('HP:0030251','Absence of memory B cells','Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.'),('HP:0030252','Absence of mature B cells','Complete lack of mature B cells, that is, of B cells that have left the bone marrow.'),('HP:0030253','Defective T cell proliferation','A reduced ability of a T cell population to expand by cell division following T cell activation.'),('HP:0030254','Nail bed hemorrhage','Small areas of bleeding (hemorrhage) under the fingernail or toenail.'),('HP:0030255','Large intestinal polyposis','The presence of multiple polyps in the large intestine.'),('HP:0030256','Small intestinal polyposis','The presence of multiple polyps in the small intestine.'),('HP:0030257','Freckled genitalia','One or more brown punctate macules on the skin of the genitalia.'),('HP:0030258','Hyperpigmented genitalia','Localized or generalized increased genital pigmentation.'),('HP:0030259','Hypopigmented genitalia','Localized or generalized decreased genital pigmentation.'),('HP:0030260','Microphallus','Length of penis more than 2 SD below the mean for age accompanied by hypospadias.'),('HP:0030261','Absent penis','Lack of recognizable penile structures.'),('HP:0030262','Narrow penis','Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.'),('HP:0030263','Torsion of the penis','Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.'),('HP:0030264','Webbed penis','Ventral skinfold extending from penis to scrotum.'),('HP:0030265','Wide penis','Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.'),('HP:0030266','obsolete Abnormality of the sacroiliac notch',''),('HP:0030267','Calcification of the interosseus membrane of the forearm','Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.'),('HP:0030268','Hyperplastic callus formation','Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.'),('HP:0030269','Increased serum insulin-like growth factor 1','An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.'),('HP:0030270','Elevated red cell adenosine deaminase level','Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.'),('HP:0030271','Reduced erythrocyte 2,3-diphosphoglycerate concentration','This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.'),('HP:0030272','Abnormal erythrocyte enzyme level','An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.'),('HP:0030273','Reduced red cell adenosine deaminase level','Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.'),('HP:0030274','Accessory scrotum','Additional scrotum, or part of a scrotum in an abnormal location.'),('HP:0030275','Ectopic scrotum','Scrotum in a position other than the usual position inferior to the base of the penis.'),('HP:0030276','Small scrotum','Apparently small scrotum for age.'),('HP:0030277','Abnormal vertebral pedicle morphology','Abnormal morphology of a vertebral pedical.'),('HP:0030278','Hypoplastic vertebral pedicle','Underdeveloped vertebral pedicle.'),('HP:0030279','Hypoplastic L5 vertebral pedicle','Underdeveloped pedicle of the fifth lumbar vertebra.'),('HP:0030280','Rib gap','Radiolucent focal defect of a rib shaft.'),('HP:0030281','Cervical C3/C4 vertebral fusion','Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.'),('HP:0030282','Posterior rib gap','Radiolucent focal defect of the posterior portion of a rib shaft. The `gaps` may lead to flail chest.'),('HP:0030283','Partial absence of the septum pellucidum','Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.'),('HP:0030284','Triangular tongue','A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.'),('HP:0030285','Splayed superior cerebellar peduncle','Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.'),('HP:0030286','Atrophic superior cerebellar peduncle','Atrophy of the superior cerebellar peduncle.'),('HP:0030289','Flattened femoral epiphysis','An abnormal flattening of an epiphysis of femur.'),('HP:0030290','Unossified sacrum','Lack of ossification of the sacrum.'),('HP:0030291','Lower-limb metaphyseal irregularity','Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.'),('HP:0030292','Tibial metaphyseal irregularity','Irregularity of the normally smooth surface of a metaphysis of a tibia.'),('HP:0030293','Fibular metaphyseal irregularity','Irregularity of the normally smooth surface of a metaphysis of a fibula.'),('HP:0030294','Metaphyseal chondromatosis of tibia',''),('HP:0030295','Metaphyseal chondromatosis of femur',''),('HP:0030296','Metaphyseal chondromatosis of radius',''),('HP:0030297','Metaphyseal chondromatosis of ulna',''),('HP:0030298','Metaphyseal chondromatosis of humerus',''),('HP:0030299','Distal femoral metaphyseal abnormality','An anomaly of the metaphysis of the distal femur (close to the knee).'),('HP:0030300','10 pairs of ribs','Presence of only 10 (instead of the usual 12) pairs of ribs.'),('HP:0030301','Abnormality of the anterior commissure','An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.'),('HP:0030302','Agenesis of the anterior commissure','Absence of the anterior commissure.'),('HP:0030303','Hypoplastic anterior commissure','Underdevelopment of the anterior commissure.'),('HP:0030304','Abnormal number of vertebrae','A deviation from the normal number of vertebrae in the spinal column.'),('HP:0030305','Decreased number of vertebrae',''),('HP:0030306','11 thoracic vertebrae','The presence of 11 instead of the normal 12 thoracic vertebrae.'),('HP:0030307','Flared lower limb metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.'),('HP:0030308','Flared distal tibial metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.'),('HP:0030309','Flared distal fibular metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.'),('HP:0030310','Upper extremity joint dislocation','Displacement or malalignment of one or more joints in the upper extremity (arm).'),('HP:0030311','Lower extremity joint dislocation','Displacement or malalignment of one or more joints in the lower extremity (leg).'),('HP:0030312','Obliteration of the calvarial diploe','Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).'),('HP:0030313','Abnormal periosteum morphology','An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.'),('HP:0030314','Periostosis','Abnormal deposition of periosteal bone.'),('HP:0030318','Angular cheilitis','A type of inflammation of the lips involving one or both of the corners of the mouth.'),('HP:0030319','Weakness of facial musculature','Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0030320','Increased intervertebral space','An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.'),('HP:0030321','Abnormal vertebral artery morphology','An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.'),('HP:0030322','Vertebral artery hypoplasia','Underdevelopment of the vertebral artery.'),('HP:0030323','Unilateral vertebral artery hypoplasia','Underdevelopment of the vertebral artery on one side.'),('HP:0030324','Bilateral vertebral artery hypoplasia','Underdevelopment of the vertebral artery on both sides.'),('HP:0030325','Cervicomedullary schisis','Fissure within the spinal cord of the neck.'),('HP:0030326','Abnormal macrophage count','An anomaly in the number of macrophages.'),('HP:0030327','Abnormal osteoclast count','An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages.'),('HP:0030328','Decreased osteoclast count','Decreased number of osteoclasts.'),('HP:0030329','Retinal thinning','Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).'),('HP:0030330','Multinucleated giant chondrocytes in epiphyseal cartilage','The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.'),('HP:0030331','Impaired stimulus-induced skin wrinkling','A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).'),('HP:0030332','obsolete Abnormal T cell morphology',''),('HP:0030333','Abnormal alpha-beta T cell morphology','A structuraly anomaly of T cells that express an alpha-beta T cell receptor.'),('HP:0030334','Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology','A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.'),('HP:0030335','Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count','A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.'),('HP:0030336','Absence of CD4-positive, CD25-positive regulatory T cells','Lack of CD4+CD25+ T regulatory cells.'),('HP:0030337','Elevated CD4-positive, CD25-positive regulatory T cell count','An increased number of CD4-positive, CD25-positive regulatory T cells.'),('HP:0030338','Abnormal circulating gonadotropin level','An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).'),('HP:0030339','Decreased circulating gonadotropin level','A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).'),('HP:0030340','obsolete Increased circulating gonadotropin level',''),('HP:0030341','Decreased circulating follicle stimulating hormone level','A reduction of the circulating level of follicle-stimulating hormone (FSH).'),('HP:0030344','Decreased circulating luteinizing hormone level','A reduction in the circulating level of luteinizing hormone (LH).'),('HP:0030345','Abnormal circulating luteinizing hormone level','An anomaly of the circulating level of luteinizing hormone (LH).'),('HP:0030346','Abnormal circulating follicle-stimulating hormone level','An anomaly of the circulating level of follicle-stimulating hormone (FSH).'),('HP:0030347','Abnormal circulating androgen level','An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.'),('HP:0030348','Increased circulating androgen level','An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.'),('HP:0030349','Decreased circulating androgen level','A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.'),('HP:0030350','Erythematous papule','A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.'),('HP:0030351','Urticarial plaque','A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.'),('HP:0030352','Abnormal serum insulin-like growth factor 1 level','An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.'),('HP:0030353','Decreased serum insulin-like growth factor 1','A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.'),('HP:0030354','Abnormal serum interferon level','Abnormal levels of interferon in the blood.'),('HP:0030355','Abnormal serum interferon-gamma level','Abnormal levels of interferon gamma measured in the blood circulation.'),('HP:0030356','Increased serum interferon-gamma level','An elevation in the concentration of interferon gamma measured in the blood circulation.'),('HP:0030357','Small cell lung carcinoma','Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.'),('HP:0030358','Non-small cell lung carcinoma',''),('HP:0030359','Squamous cell lung carcinoma','A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.'),('HP:0030360','Large cell lung carcinoma','A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.'),('HP:0030361','Abnormal circulating eicosanoid concentration','Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).'),('HP:0030362','Reduced muscle carnitine level','A reduction in the level of carnitine in muscle tissue.'),('HP:0030363','Primary Caesarian section','Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.'),('HP:0030364','Secondary Caesarian section','Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.'),('HP:0030365','Vaginal birth after Caesarian','Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.'),('HP:0030366','Delivery by Odon device','The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.'),('HP:0030367','Finger hyperphalangy','Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.'),('HP:0030368','Hyperphalangy of the 2nd finger','An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.'),('HP:0030369','Induced vaginal delivery','Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.'),('HP:0030370','Abnormal proportion of naive B cells','A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.'),('HP:0030371','Increased proportion of naive B cells','An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.'),('HP:0030372','Decreased proportion of naive B cells','A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.'),('HP:0030373','Abnormal proportion of memory B cells','A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).'),('HP:0030374','Decreased proportion of memory B cells','A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).'),('HP:0030375','Increased proportion of memory B cells','An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).'),('HP:0030376','Abnormal proportion of immature B cells','A deviation from normal proportion immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they`re specific (IgM+/IgD+).'),('HP:0030377','Increased proportion of immature B cells','An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they`re specific (IgM+/IgD+).'),('HP:0030378','Decreased proportion of immature B cells','A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they`re specific (IgM+/IgD+).'),('HP:0030379','Abnormal proportion of transitional B cells','A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.'),('HP:0030380','Decreased proportion of transitional B cells','A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.'),('HP:0030381','Increased proportion of transitional B cells','An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.'),('HP:0030383','Abnormal proportion of marginal zone B cells','A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.'),('HP:0030384','Decreased proportion of marginal zone B cells','A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.'),('HP:0030385','Increased proportion of marginal zone B cells','An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.'),('HP:0030386','Abnormal proportion of class-switched memory B cells','A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.'),('HP:0030387','Increased proportion of class-switched memory B cells','An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.'),('HP:0030388','Decreased proportion of class-switched memory B cells','A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.'),('HP:0030389','Abnormal circulating thromboxane concentration','Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.'),('HP:0030390','Reduced circulating leukotriene C4 concentration','An abnormally decreased concentration of leukotriene C4 in the blood circulation.'),('HP:0030391','Spoken Word Recognition Deficit','Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.'),('HP:0030392','Choroid plexus carcinoma','Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.'),('HP:0030393','Endolymphatic sac tumor','A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).'),('HP:0030394','Fallopian tube carcinoma','Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.'),('HP:0030396','Abnormal platelet granule secretion','Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.'),('HP:0030397','Abnormal platelet dense granule secretion','Abnormal release of dense granules from platelets.'),('HP:0030398','Abnormal platelet ATP dense granule secretion','Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).'),('HP:0030399','Abnormal platelet alpha granule secretion','Abnormal release of alpha granule contents from platelets.'),('HP:0030400','Abnormal platelet lysosome secretion','Abnormal release of lysosome contents from platelets.'),('HP:0030401','Abnormal platelet dense granule ATP/ADP ratio','Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.'),('HP:0030402','Abnormal platelet aggregation','An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.'),('HP:0030403','Spontaneous platelet aggregation','Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.'),('HP:0030404','Glucagonoma','An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.'),('HP:0030405','Pancreatic endocrine tumor','A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.'),('HP:0030406','Primary peritoneal carcinoma','A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.'),('HP:0030407','Pineocytoma','A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I).'),('HP:0030408','Pineoblastoma','Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.'),('HP:0030409','Renal transitional cell carcinoma','A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.'),('HP:0030410','Sebaceous gland carcinoma','A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)'),('HP:0030411','Jejunal adenocarcinoma','A malignant epithelial tumor with a glandular organization that originates in the jejunum.'),('HP:0030412','Ileal adenocarcinoma','A malignant epithelial tumor with a glandular organization that originates in the ileum.'),('HP:0030413','Squamous cell carcinoma of the tongue','A carcinoma derived from a squamous epithelial cell of the tongue.'),('HP:0030414','Verrucous cell carcinoma of the tongue','A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.'),('HP:0030415','Sarcomatoid carcinoma of the tongue','Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.'),('HP:0030416','Vulvar neoplasm','A tumor (abnormal growth of tissue) of the female external genital tract (vulva).'),('HP:0030417','Squamous cell carcinoma of the vulva','A cancer that originates in the squamous cells that line the surface of the vulva.'),('HP:0030418','Vulvar melanoma','A type of vulvar cancer that originates from melanocytes of the vulva.'),('HP:0030419','Bartholin gland carcinoma','A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.'),('HP:0030420','Vulvar adenocarcinoma','An adenocarcinoma arising in the vulva.'),('HP:0030421','Epididymal neoplasm','A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.'),('HP:0030422','obsolete Papillary cystadenoma of the epididymis',''),('HP:0030423','Splenic cyst','A closed sac located in the spleen.'),('HP:0030424','Epididymal cyst','A smooth, extratesticular, spherical cyst in the head of the epididymis.'),('HP:0030425','Calcified ovarian cyst','A cyst of the ovary that exhibits deposition of calcium salts.'),('HP:0030426','Ossifying fibroma','A benign central bone tumor composed of fibrous connective tissue within which bone is formed.'),('HP:0030427','Ossifying fibroma of the jaw','A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.'),('HP:0030428','Cutaneous myxoma','A myxoma originating in the skin.'),('HP:0030429','Juvenile nasopharyngeal angiofibroma','A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.'),('HP:0030430','Neuroma','A tumor made up of nerve cells and nerve fibers.'),('HP:0030431','Osteochondroma','A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.'),('HP:0030432','Chondroblastoma','A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.'),('HP:0030433','Osteoid osteoma','A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.'),('HP:0030434','Pilomatrixoma','Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.'),('HP:0030436','Fibrofolliculoma','Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.'),('HP:0030437','Anal canal neoplasm',''),('HP:0030438','Anal canal squamous cell carcinoma','A squamous cell carcinoma that originates in the anal canal.'),('HP:0030439','Anal canal adenocarcinoma','An adenoma carcinoma that originates in the anal canal.'),('HP:0030440','Anal margin neoplasm','A tumor of the anal margin.'),('HP:0030441','Anal margin Paget`s disease','An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget`s cells, appearing as large rounded vacuolated cells.'),('HP:0030442','Anal margin squamous cell carcinoma','A squamous cell carcinoma that originates in the skin of the anal margin.'),('HP:0030443','Anal margin basal cell carcinoma','A basal cell carcinoma that originates in the anal margin.'),('HP:0030444','Anal margin melanoma','A melanoma that originates in the anal margin.'),('HP:0030445','Pulmonary carcinoid tumor','A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.'),('HP:0030446','Atypical pulmonary carcinoid tumor',''),('HP:0030447','Merkel cell skin cancer','A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.'),('HP:0030448','Soft tissue sarcoma','A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.'),('HP:0030449','Therapeutic abortion','Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother`s life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.'),('HP:0030450','Neuroplasm of the autonomic nervous system','A tumor that arises from an element of the autonomic nervous system.'),('HP:0030451','Mesenteric cyst','A closed fluid filled sac originating from the mesentary.'),('HP:0030452','Chylolymphatic mesenteric cyst','A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.'),('HP:0030453','Abnormal visual electrophysiology',''),('HP:0030454','Abnormal electrooculogram','The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.'),('HP:0030455','Abnormality of pattern visual evoked potentials',''),('HP:0030456','Abnormality of pattern onset/offset visual evoked potentials',''),('HP:0030457','Abnormal amplitude of pattern onset/offset visual evoked potentials',''),('HP:0030458','Abnormal timing of pattern onset/offset visual evoked potentials',''),('HP:0030460','Abnormal timing of pattern reversal visual evoked potentials',''),('HP:0030461','Abnormal timing of flash visual evoked potentials',''),('HP:0030462','Abnormal amplitude of flash visual evoked potentials',''),('HP:0030463','Asymmetrical distribution of flash visual evoked potentials',''),('HP:0030464','Asymmetrical distribution of pattern reversal visual evoked potentials',''),('HP:0030465','Undetectable light-adapted electroretinogram','No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.'),('HP:0030466','Abnormal full-field electroretinogram',''),('HP:0030467','Abnormal pattern electroretinogram','An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.'),('HP:0030468','Abnormal multifocal electroretinogram',''),('HP:0030469','Abnormal dark-adapted electroretinogram',''),('HP:0030470','Abnormal dark-adapted bright flash electroretinogram',''),('HP:0030471','Abnormal dark-adapted dim flash electroretinogram',''),('HP:0030472','Abnormal light-adapted single flash electroretinogram',''),('HP:0030473','Abnormal light-adapted flicker electroretinogram',''),('HP:0030474','Undetectable dark-adapted electroretinogram',''),('HP:0030475','Abnormal timing of dark-adapted dim flash electroretinogram',''),('HP:0030476','Abnormal amplitude of dark-adapted dim flash electroretinogram',''),('HP:0030477','Abnormal timing of dark-adapted bright flash electroretinogram',''),('HP:0030478','Abnormal amplitude of dark-adapted bright flash electroretinogram',''),('HP:0030479','Abnormal amplitude of light-adapted flicker electroretinogram',''),('HP:0030480','Abnormal timing of light-adapted flicker electroretinogram',''),('HP:0030481','Abnormal amplitude of light-adapted single flash electroretinogram',''),('HP:0030482','Abnormal timing of light-adapted single flash electroretinogram',''),('HP:0030483','Reduced amplitude of dark-adapted bright flash electroretinogram a-wave','An abnormal reduction in the amplitude of the a-wave.'),('HP:0030484','Supernormal dark-adapted bright flash electroretinogram b-wave',''),('HP:0030485','Abnormal amplitude of pattern electroretinogram',''),('HP:0030486','Abnormal timing of pattern electroretinogram',''),('HP:0030487','Abnormal P50/N95 ratio of pattern electroretinogram',''),('HP:0030488','Abnormal central response of multifocal electroretinogram',''),('HP:0030489','Abnormal paracentral response of multifocal electroretinogram',''),('HP:0030490','Exudative vitreoretinopathy',''),('HP:0030491','Choriocapillaris atrophy','Atrophy of the capillary lamina of choroid.'),('HP:0030493','Abnormality of foveal pigmentation','An anomaly of the pigmentation in the fovea centralis.'),('HP:0030494','Macular microaneurysm/hemorrhage','Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).'),('HP:0030495','Abnormality morphology of the macular vasculature','Any structural anomaly of the blood vessels of the macula.'),('HP:0030496','Macular exudate','Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.'),('HP:0030497','Macular cotton wool spot','Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.'),('HP:0030498','Macular thickening','Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.'),('HP:0030499','Macular drusen','Drusen (singular, `druse`) are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch`s membrane of the eye. This class refers to the presence of Drusen in the macula.'),('HP:0030500','Yellow/white lesions of the macula',''),('HP:0030501','Macular crystals','Crystalline deposits in the macula.'),('HP:0030502','Retinoschisis','Splitting of the neuroretinal layers of the retina.'),('HP:0030503','Macular telangiectasia',''),('HP:0030504','Grouped congenital hypertrophy of retinal pigment epithelium',''),('HP:0030505','Nummular pigmentation of the fundus','Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.'),('HP:0030506','Yellow/white lesions of the retina',''),('HP:0030507','Retinal crystals','Crystalline deposits in the retina.'),('HP:0030508','Retinal cavernous hemangioma',''),('HP:0030509','Retinal racemose hemangioma',''),('HP:0030510','Combined hamartoma of the retinal pigment epithelium and retina',''),('HP:0030511','Bradyopsia','Difficulty in seeing moving objects.'),('HP:0030512','Difficulty adjusting to changes in luminance',''),('HP:0030513','Difficulty adjusting from light to dark',''),('HP:0030514','Difficulty adjusting from dark to light',''),('HP:0030515','Moderately reduced visual acuity','Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).'),('HP:0030516','Homonymous hemianopia',''),('HP:0030517','Heteronymous hemianopia',''),('HP:0030518','Congruous homonymous hemianopia',''),('HP:0030519','Congruous heteronymous hemianopia',''),('HP:0030520','Binasal hemianopia',''),('HP:0030521','Bitemporal hemianopia',''),('HP:0030522','Mild constriction of peripheral visual field','A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.'),('HP:0030523','obsolete Peripheral visual field constriction with 40-50 degrees central field preserved',''),('HP:0030524','obsolete Peripheral visual field constriction with 30-39 degrees central field preserved',''),('HP:0030525','Moderate constriction of peripheral visual field','Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.'),('HP:0030526','Severe constriction of peripheral visual field','Peripheral visual field constriction with 10-19 degrees central field preserved.'),('HP:0030527','Very severe constriction of peripheral visual field','Peripheral visual field constriction with <10 degrees central field preserved.'),('HP:0030528','Paracentral scotoma',''),('HP:0030529','Ring scotoma',''),('HP:0030530','Arcuate scotoma',''),('HP:0030531','Altitudinal visual field defect',''),('HP:0030532','Visual acuity test abnormality',''),('HP:0030533','Abnormal unaided visual acuity test',''),('HP:0030534','Abnormal best corrected visual acuity test',''),('HP:0030535','Abnormal pinhole visual acuity test',''),('HP:0030536','Unaided visual acuity 0.1 LogMAR',''),('HP:0030537','Unaided visual acuity 0.2 LogMAR',''),('HP:0030538','Unaided visual acuity 0.3 LogMAR',''),('HP:0030539','Unaided visual acuity 0.4 LogMAR',''),('HP:0030540','Unaided visual acuity 0.5 LogMAR',''),('HP:0030541','Unaided visual acuity 0.6 LogMAR',''),('HP:0030542','Unaided visual acuity 0.7 LogMAR',''),('HP:0030543','Unaided visual acuity 0.8 LogMAR',''),('HP:0030544','Unaided visual acuity 0.9 LogMAR',''),('HP:0030545','Unaided visual acuity 1.0 LogMAR',''),('HP:0030546','Unaided visual acuity 1.1 LogMAR',''),('HP:0030547','Unaided visual acuity 1.2 LogMAR',''),('HP:0030548','Unaided visual acuity 1.3 LogMAR',''),('HP:0030549','Unaided visual acuity 2.0 LogMAR',''),('HP:0030550','Unaided visual acuity 3.0 LogMAR',''),('HP:0030551','Visual acuity light perception with projection',''),('HP:0030552','Visual acuity light perception without projection',''),('HP:0030553','Visual acuity no light perception',''),('HP:0030554','Best corrected visual acuity 0.1 LogMAR',''),('HP:0030555','Best corrected visual acuity 0.2 LogMAR',''),('HP:0030556','Best corrected visual acuity 0.3 LogMAR',''),('HP:0030557','Best corrected visual acuity 0.4 LogMAR',''),('HP:0030558','Best corrected visual acuity 0.5 LogMAR',''),('HP:0030559','Best corrected visual acuity 0.7 LogMAR',''),('HP:0030560','Best corrected visual acuity 0.6 LogMAR',''),('HP:0030561','Best corrected visual acuity 0.8 LogMAR',''),('HP:0030562','Best corrected visual acuity 0.9 LogMAR',''),('HP:0030563','Best corrected visual acuity 1.0 LogMAR',''),('HP:0030564','Best corrected visual acuity 1.1 LogMAR',''),('HP:0030565','Best corrected visual acuity 1.2 LogMAR',''),('HP:0030566','Best corrected visual acuity 1.3 LogMAR',''),('HP:0030567','Best corrected visual acuity 2.0 LogMAR',''),('HP:0030568','Best corrected visual acuity 3.0 LogMAR',''),('HP:0030569','Pinhole visual acuity 0.1 LogMAR',''),('HP:0030570','Pinhole visual acuity 0.2 LogMAR',''),('HP:0030571','Pinhole visual acuity 0.3 LogMAR',''),('HP:0030572','Pinhole visual acuity 0.4 LogMAR',''),('HP:0030573','Pinhole visual acuity 0.5 LogMAR',''),('HP:0030574','Pinhole visual acuity 0.6 LogMAR',''),('HP:0030575','Pinhole visual acuity 0.7 LogMAR',''),('HP:0030576','Pinhole visual acuity 0.8 LogMAR',''),('HP:0030577','Pinhole visual acuity 0.9 LogMAR',''),('HP:0030578','Pinhole visual acuity 1.0 LogMAR',''),('HP:0030579','Pinhole visual acuity 1.1 LogMAR',''),('HP:0030580','Pinhole visual acuity 1.2 LogMAR',''),('HP:0030581','Pinhole visual acuity 1.3 LogMAR',''),('HP:0030582','Pinhole visual acuity 2.0 LogMAR',''),('HP:0030583','Pinhole visual acuity 3.0 LogMAR',''),('HP:0030584','Color vision test abnormality',''),('HP:0030585','Red desaturation',''),('HP:0030586','Abnormal Ishihara plate test',''),('HP:0030587','Abnormal Hardy-Rand-Rittler plate test',''),('HP:0030588','Abnormal visual field test','Abnormal result of a test designed to test an individual`s central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.'),('HP:0030589','Abnormal confrontational visual field test',''),('HP:0030590','Abnormal Amsler grid test',''),('HP:0030591','Abnormal kinetic perimetry test',''),('HP:0030592','Abnormal static perimetry test',''),('HP:0030593','Abnormal manual kinetic perimetry test',''),('HP:0030594','Abnormal automated kinetic perimetry test',''),('HP:0030595','Abnormal static automated perimetry test',''),('HP:0030596','Abnormal Humphrey SITA 30-2 perimetry test',''),('HP:0030597','Abnormal Humphrey SITA 24-2 perimetry test',''),('HP:0030598','Abnormal Humphrey SITA 10-2 perimetry test',''),('HP:0030599','Abnormal Estermann grid perimetry test',''),('HP:0030601','Abnormal posterior segment imaging',''),('HP:0030602','Abnormal fundus autofluorescence imaging','Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.'),('HP:0030603','Abnormal optical coherence tomography',''),('HP:0030604','Abnormal fundus fluorescein angiography','An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.'),('HP:0030605','Abnormal indocyanine green angiography',''),('HP:0030606','Abnormal OCT-measured macular thickness',''),('HP:0030607','Reduced OCT-measured macular thickness',''),('HP:0030608','Increased OCT-measured macular thickness',''),('HP:0030609','Photoreceptor layer loss on macular OCT','Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.'),('HP:0030610','Photoreceptor outer segment loss on macular OCT',''),('HP:0030611','Retinal pigment epithelial loss on macular OCT',''),('HP:0030612','Abnormal retinal morphology on macular OCT',''),('HP:0030613','Abnormal foveal morphology on macular OCT',''),('HP:0030614','Foveal photoreceptor layer loss on macular OCT',''),('HP:0030615','Foveal photoreceptor outer segment loss on macular OCT',''),('HP:0030616','Foveal retinal pigment epithelial loss on macular OCT',''),('HP:0030617','Abnormal OCT-measured foveal thickness',''),('HP:0030618','Increased OCT-measured foveal thickness',''),('HP:0030619','Reduced OCT-measured foveal thickness',''),('HP:0030620','Inner retinal layer loss on macular OCT',''),('HP:0030621','Foveal inner retinal layer loss on macular OCT',''),('HP:0030622','Abnormal foveal pit on macular OCT',''),('HP:0030623','Intraretinal hyporeflective spaces on macular OCT',''),('HP:0030624','Subretinal hyporeflective spaces on macular OCT',''),('HP:0030625','Hyporeflective spaces on macular OCT',''),('HP:0030626','Foveal intraretinal hyporeflective spaces on macular OCT',''),('HP:0030627','Foveal hyporeflective spaces on macular OCT',''),('HP:0030628','Foveal subretinal hyporeflective spaces on macular OCT',''),('HP:0030629','Perifoveal ring of hyperautofluorescence',''),('HP:0030630','Irregular central macular autofluorescence',''),('HP:0030631','Hyperautofluorescent macular lesion','Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.'),('HP:0030632','Hypoautofluorescent macular lesion','Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.'),('HP:0030633','Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence',''),('HP:0030634','Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence',''),('HP:0030635','Retinal dystrophy with early macular involvement',''),('HP:0030636','Occult macular dystrophy','Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.'),('HP:0030637','Congenital stationary cone dysfunction','Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.'),('HP:0030638','Congenital stationary night blindness with normal fundus',''),('HP:0030639','Congenital stationary night blindness with abnormal fundus',''),('HP:0030640','Complete congenital stationary night blindness',''),('HP:0030641','Incomplete congenital stationary night blindness',''),('HP:0030642','Fundus albipunctatus',''),('HP:0030643','Vitelliform-like retinal lesions',''),('HP:0030644','Blind-spot enlargment',''),('HP:0030645','Central','Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.'),('HP:0030646','Peripheral',''),('HP:0030647','Paracentral',''),('HP:0030648','Midperipheral',''),('HP:0030649','Pericentral',''),('HP:0030650','Focal',''),('HP:0030651','Multifocal',''),('HP:0030652','Vitreous haze','Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.'),('HP:0030654','Umbilical cord cyst','Any cystic lesion associated with the umbilical cord.'),('HP:0030655','Umbilical cord knot','An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.'),('HP:0030656','Umbilical vein varix','Focal dilation of the umbilical vein.'),('HP:0030657','Umbilical cord hematoma','Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.'),('HP:0030658','Marginal umbilical cord insertion','Insertion of the umbilical cord within 2 cm from the placental edge.'),('HP:0030659','Velamentous cord insertion','Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.'),('HP:0030660','Furcate cord insertion','Branching of the umbilical cord before its insertion into the placenta.'),('HP:0030661','Vitreous snowballs','Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.'),('HP:0030662','Vitreous inflammatory cells','The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.'),('HP:0030663','Optically empty vitreous','Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.'),('HP:0030664','Beevor`s sign','Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.'),('HP:0030665','Rubral tremor','Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.'),('HP:0030666','Retinal neovascularization','In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.'),('HP:0030667','Peripheral retinal neovascularization','A type of retinal neovascularization that affects the periphery of the retina.'),('HP:0030668','Periorbital dermoid cyst','A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.'),('HP:0030669','Abnormal ocular adnexa morphology','A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.'),('HP:0030670','Hamartoma of the orbital region','A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.'),('HP:0030671','Abnormal common tendinous ring morphology','Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.'),('HP:0030672','Asteroid hyalosis','The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.'),('HP:0030673','Erosive vitreoretinopathy','A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.'),('HP:0030674','Antenatal onset','Onset prior to birth.'),('HP:0030675','Contracture of proximal interphalangeal joints of 2nd-5th fingers','Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.'),('HP:0030676','Satyr ear','Sharp pointed superior portion of the ear, with variable overfolding of the helix.'),('HP:0030677','Mozart ear','A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.'),('HP:0030679','Ash-leaf spot','A hypopigmented spot in the shape of a leaf from the mountain ash tree.'),('HP:0030680','Abnormality of cardiovascular system morphology','Any structural anomaly of the heart and great vessels.'),('HP:0030681','Abnormal morphology of myocardial trabeculae','Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0030682','Left ventricular noncompaction','Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.'),('HP:0030683','Vaginitis','Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.'),('HP:0030684','Abnormal adiponectin level','A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.'),('HP:0030685','Decreased adiponectin level','A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.'),('HP:0030686','Increased adiponectin level','An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.'),('HP:0030687','Abnormal glucagon level','A deviation from the normal concentration of glucagon in the blood circulation.'),('HP:0030688','Increased glucagon level','An elevated concentration of glucagon in the blood circulation.'),('HP:0030689','Decreased glucagon level','A reduced concentration of glucagon in the blood circulation.'),('HP:0030690','Gingival cleft','A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.'),('HP:0030691','Divergence nystagmus','A condition in which both eyes beat outward simultaneously.'),('HP:0030692','Brain neoplasm','A benign or malignant neoplasm that arises from or metastasizes to the brain.'),('HP:0030693','Supratentorial neoplasm','A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.'),('HP:0030694','Pineal parenchymal cell neoplasm',''),('HP:0030706','Ranula','A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton`s duct of the submandibular gland or infrequently from the minor salivary glands at this location.'),('HP:0030707','Unilateral lung agenesis','Lack of development of one lung.'),('HP:0030708','Myeloschisis','The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.'),('HP:0030709','Myelocystocele','Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.'),('HP:0030710','Lipomeningocele','A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.'),('HP:0030711','Hydrocolpos','Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.'),('HP:0030712','Uterine synechiae','Adhesions or scar tissue that form inside the cavity of the uterus.'),('HP:0030713','Vein of Galen aneurysmal malformation','Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.'),('HP:0030714','Subchorionic thrombohematoma','A large maternal clot that separates the chorionic plate from the villous chorion.'),('HP:0030715','Bronchial atresia','A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.'),('HP:0030716','Acrania','Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.'),('HP:0030717','Meconium peritonitis','Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.'),('HP:0030718','Right atrial enlargement','Increase in size of the right atrium.'),('HP:0030719','Unguarded tricuspid valve','A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.'),('HP:0030720','Subchorionic septal cyst','Cyst on the surface of the placenta consisting of amnion and chorion.'),('HP:0030721','Tetraphocomelia','Phocomelia involving all four extremities.'),('HP:0030722','Ectopic liver','Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.'),('HP:0030723','Congenital megalourethra','Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.'),('HP:0030724','Central nervous system cyst','A fluid-filled sac (cyst) located within the central nervous system.'),('HP:0030725','Neurenteric cyst','The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.'),('HP:0030726','Spinal neurenteric cyst','A neurenteric cyst located in the spine.'),('HP:0030727','Intracranial neurenteric cyst','A neurenteric cyst located within the skull.'),('HP:0030728','Meromelia','Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.'),('HP:0030729','Frontoethmoidal meningocele','A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.'),('HP:0030730','Parietal meningocele','A herniation of meninges through a congenital bone defect in the skull in the parietal region.'),('HP:0030731','Carcinoma','A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).'),('HP:0030732','Dysplastic tricuspid valve','A congenital malformation of the tricuspid valve characterized by leaflet deformation.'),('HP:0030733','Vesicoallantoic abdominal wall defect','An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.'),('HP:0030735','Ureterovesical junction obstruction','Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.'),('HP:0030736','Sacrococcygeal teratoma','A teratoma arising in the sacro-coccygeal region.'),('HP:0030737','Altman type I sacrococcygeal teratoma','A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.'),('HP:0030738','Altman type II sacrococcygeal teratoma','A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.'),('HP:0030739','Altman type III sacrococcygeal teratoma','A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.'),('HP:0030740','Anomalous muscle bundle of the right ventricle','An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.'),('HP:0030741','Mediastinal teratoma','A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).'),('HP:0030742','Glial remnants posterior to lens','This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.'),('HP:0030743','Glial remnants anterior to the optic disc','Persistance of a posterior remnant of the hyaloid artery located at the optic disc.'),('HP:0030744','Hyaloid vascular remnant and retrolental mass','A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.'),('HP:0030745','Dilatation of the ductus arteriosus','A saccular or fusiform dilation and elongation of the ductus arteriosus.'),('HP:0030746','Intraventricular hemorrhage','Bleeding into the ventricles of the brain.'),('HP:0030747','Preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a premature infant.'),('HP:0030748','Grade I preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.'),('HP:0030749','Grade II preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.'),('HP:0030750','Grade III preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.'),('HP:0030751','Grade IV preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.'),('HP:0030752','Dacryocystocele','A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.'),('HP:0030753','Intrauterine fetal demise of one twin after midgestation','Loss of one twin occurring after midgestation (17 weeks gestation).'),('HP:0030754','Allantoic cyst','A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton`s jelly.'),('HP:0030755','Craniofacial teratoma','A teratoma located in the craniofacial region.'),('HP:0030756','Erythrodontia','Reddish, brown opalescent discoloration of teeth in normal light.'),('HP:0030757','Tooth abscess','A pocket of pus located within a region of a tooth.'),('HP:0030758','Periapical tooth abscess','A tooth abscess that occurs at the tip of the root (apex) of a tooth.'),('HP:0030759','Adipocyte hypertrophy','An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.'),('HP:0030760','Renal fibrosis','Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.'),('HP:0030761','obsolete Renal glomerular fibrosis',''),('HP:0030762','Mesangiolysis','Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis.'),('HP:0030763','Amniotic Sheet','A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.'),('HP:0030764','Ochronosis','Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.'),('HP:0030765','Sleep terror','Episodes of intense fear, screaming and flailing although affected individuals are still asleep.'),('HP:0030766','Ear pain','Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).'),('HP:0030767','Epignathus','Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.'),('HP:0030769','Exencephaly','A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.'),('HP:0030770','Craniorachischisis','A neural tube defect in which both the brain and spinal cord remain open to varying degrees.'),('HP:0030771','Mallet finger','Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.'),('HP:0030772','Proximal femoral focal deficiency','Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.'),('HP:0030773','Internuclear ophthalmoplegia','An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.'),('HP:0030774','Mitochondrial swelling','The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.'),('HP:0030775','Modic type vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.'),('HP:0030776','Modic type I vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.'),('HP:0030777','Modic type II vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.'),('HP:0030778','Modic type III vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.'),('HP:0030779','Ethmocephaly','Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.'),('HP:0030780','Abnormality of the protein C anticoagulant pathway','An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.'),('HP:0030781','Increased circulating free fatty acid level','A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.'),('HP:0030782','Abnormal serum interleukin level','An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.'),('HP:0030783','Increased serum interleukin-6','An increased concentration of interleukin-6 in the circulation.'),('HP:0030784','Anomia','An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.'),('HP:0030785','Mediastinal cystic lymphangioma','A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.'),('HP:0030786','Photopsia','Perceived flashes of light.'),('HP:0030787','Cerumen abnormality','Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.'),('HP:0030788','Impacted cerumen','Blockage of the external auditory canal by a buildup of earwax.'),('HP:0030789','Excessive cerumen','An increased quantity of earwax.'),('HP:0030790','Abnormal cerumen color','An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.'),('HP:0030791','Abnormal jaw morphology','A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.'),('HP:0030792','Jaw neoplasm','A tumor originating in the jaw (mandible or maxilla).'),('HP:0030793','Jaw swelling','Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).'),('HP:0030794','Abnormal C-peptide level','An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.'),('HP:0030795','Reduced C-peptide level','A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.'),('HP:0030796','Increased C-peptide level','An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.'),('HP:0030797','Reduced volume of central subdivision of bed nucleus of stria terminalis','A diminished volume of the central part of the bed nucleus of the stria terminalis.'),('HP:0030798','Abnormality of the bed nucleus of stria terminalis','The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.'),('HP:0030799','Scaphocephaly','Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.'),('HP:0030800','Abnormal visual accommodation','An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.'),('HP:0030801','Reduced visual accommodation','A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.'),('HP:0030802','Lower eyelid retraction','Inferior malposition of the lower eyelid margin without eyelid eversion.'),('HP:0030803','Platonychia','Abnormal flat nail.'),('HP:0030804','Trachyonychia','Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.'),('HP:0030805','Absent lunula','Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.'),('HP:0030806','Fast-growing nails','Nails whose growth is quicker than normal.'),('HP:0030807','Abnormal nail growth','Nail whose growth pattern or speed deviates from normal.'),('HP:0030808','Ragged cuticle','The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.'),('HP:0030809','Abnormal tongue morphology','Any structural anomaly of the tongue.'),('HP:0030810','Abnormal tongue physiology','Any functional anomaly of the tongue.'),('HP:0030811','Tongue pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.'),('HP:0030812','Enlarged tonsils','Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.'),('HP:0030813','Absent tonsils','Lack of observable tonsillar tissue.'),('HP:0030814','Orange discolored tonsils','A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.'),('HP:0030815','Lipoma of the tongue','A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.'),('HP:0030816','Gingival recession','The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.'),('HP:0030817','Beaked nails','Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.'),('HP:0030818','Central nail canal','The presense of a depressed line (\"canal\") in the center of the nail.'),('HP:0030819','Ski jump nail','Nails that slope upward at the free edge.'),('HP:0030820','Hooded eyelid','Eyelid partly covered by skin when eyes are open.'),('HP:0030821','Hooded lower eyelid','Lower eyelid partly covered by skin when eyes are open.'),('HP:0030822','Hooded upper eyelid','Upper eyelid partly covered by skin when eyes are open.'),('HP:0030823','Scleral thickening','Increased dimension of the sclera in the anterior-posterior axis.'),('HP:0030824','Mizuo phenomenon','Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].'),('HP:0030825','Absent foveal reflex','Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.'),('HP:0030826','Eyelid fasciculation','Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.'),('HP:0030828','Wheezing','A high-pitched whistling sound associated with labored breathing.'),('HP:0030829','Abnormal breath sound','An anomalous (adventitious) sound produced by the breathing process.'),('HP:0030830','Crackles','Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.'),('HP:0030831','Rhonchi','Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.'),('HP:0030832','Vitreous strands','Fiber- or rope-like opacities located within the vitreous humor.'),('HP:0030833','Neck pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.'),('HP:0030834','Shoulder pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.'),('HP:0030835','Elbow pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.'),('HP:0030836','Wrist pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.'),('HP:0030837','Finger pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.'),('HP:0030838','Hip pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.'),('HP:0030839','Knee pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.'),('HP:0030840','Ankle pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.'),('HP:0030841','Toe pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.'),('HP:0030842','Choking episodes','Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.'),('HP:0030843','Cardiac amyloidosis','Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.'),('HP:0030844','Undetectable pattern electroretinogram','Absent response to a pattern electroretinogram (PERG).'),('HP:0030845','Heliotrope rash of eyelid','Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.'),('HP:0030846','Abnormality of venous physiology','An anomaly of venous function.'),('HP:0030847','Abnormal jugular venous pressure','An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.'),('HP:0030848','Elevated jugular venous pressure','Increased jugular venous pressure.'),('HP:0030849','Hepatojugular reflux','The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.'),('HP:0030850','Abnormal pulse pressure','An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.'),('HP:0030851','Low pulse pressure','Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).'),('HP:0030852','High pulse pressure','Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).'),('HP:0030853','Heterotaxy','An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.'),('HP:0030854','Scleral staphyloma','A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.'),('HP:0030855','Anterior staphyloma','A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.'),('HP:0030856','Posterior staphyloma','A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.'),('HP:0030857','Eye movement-induced pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.'),('HP:0030858','Addictive behavior','A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains.'),('HP:0030859','Topoisomerase I antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.'),('HP:0030860','Abnormal CSF amyloid level','Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).'),('HP:0030861','Decreased CSF amyloid level','Reduced concentration of amyloid in the cerebrospinal fluid (CSF).'),('HP:0030862','Elevated CSF amyloid level','Increased concentration of amyloid in the cerebrospinal fluid (CSF).'),('HP:0030863','Nasal flaring','Widening of the nostrils upon inhalation as a manifestation of respiratory distress.'),('HP:0030864','Intercostal retractions','A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.'),('HP:0030865','Large elbow','Abnormal increased size of the elbow joint.'),('HP:0030866','Large knee','Abnormally increased size of the knee joint.'),('HP:0030867','Vertical orbital dystopia','The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.'),('HP:0030868','Monorchism','Having only one testis in the scrotum.'),('HP:0030869','Anorchism','An abnormality of XY sexual development characterized by the absence of both testes at birth.'),('HP:0030870','Abnormality of spinal facet joint','An anomaly of the small joints located between and behind adjacent vertebrae.'),('HP:0030871','Facet joint arthrosis','Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.'),('HP:0030872','Abnormal cardiac ventricular function','An abnormality of the cardiac ventricular function.'),('HP:0030873','Anticentromere antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.'),('HP:0030874','Oxygen desaturation on exertion','Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.'),('HP:0030875','Abnormality of pulmonary circulation','A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.'),('HP:0030876','Increased pulmonary capillary wedge pressure','Pulmonary capillary wedge pressure (PCWP) above 15mmHg.'),('HP:0030877','Reduced FEV1/FVC ratio','Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).'),('HP:0030878','Abnormality on pulmonary function testing','Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.'),('HP:0030879','Interlobular septal thickening on pulmonary HRCT','Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.'),('HP:0030880','Raynaud phenomenon',''),('HP:0030881','Shoulder impingement','Trapping and compression of the rotator cuff tendons during shoulder movements.'),('HP:0030882','Coronary artery aneurysm','Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.'),('HP:0030883','Femoroacetabular impingement','Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.'),('HP:0030884','Gastrojejunal tube feeding in infancy','Feeding problem necessitating gastrojejunal tube feeding.'),('HP:0030885','Recurrent parasitic infections','Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.'),('HP:0030886','Abnormal lymphocyte apoptosis','A anomaly in the rate of apoptosis in lymphocytes.'),('HP:0030887','Increased lymphocyte apoptosis','A elevation in the rate of apoptosis in lymphocytes.'),('HP:0030888','C3 nephritic factor positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).'),('HP:0030889','Congenital shortened small intestine','Substantially shortened length of the small intestine as a result of a developmental defect.'),('HP:0030890','Hyperintensity of cerebral white matter on MRI','A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.'),('HP:0030891','Periventricular white matter hyperdensities','Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.'),('HP:0030892','Deep cerebral white matter hyperdensities','Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.'),('HP:0030893','Abnormal response to short acting pulmonary vasodilator','Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.'),('HP:0030894','Insufficient response to short acting pulmonary vasodilator','No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.'),('HP:0030895','Abnormal gastrointestinal motility','An anomaly of the muscular contractions that propel food though the gastrointestinal tract.'),('HP:0030896','Abnormal gastrointestinal transit time','A deviation from the normal amount of time required for food to pass through the intestines.'),('HP:0030897','Decreased intestinal transit time','A reduction in the length of time required for food to pass through the intestines.'),('HP:0030898','Pruritis on abdomen','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.'),('HP:0030899','Pruritis on hand','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.'),('HP:0030900','Pruritus on foot','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.'),('HP:0030901','Pruritis on breast','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.'),('HP:0030902','Palmomental reflex','A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.'),('HP:0030903','Grasp reflex','A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient`s hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner`s fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner`s hand with variable strength and continues to grasp as the examiner`s hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].'),('HP:0030904','Glabellar reflex','A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson`s sign.'),('HP:0030905','Snout reflex','A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.'),('HP:0030906','Suck reflex','A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner`s finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.'),('HP:0030907','Thunderclap headache','Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.'),('HP:0030908','Liver kidney microsome type 1 antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).'),('HP:0030909','Anti-liver cytosolic antigen type 1 antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.'),('HP:0030911','Bifid clitoris','Two clitorides located side by side.'),('HP:0030912','Duplicated clitoris','Supernumerary clitoris.'),('HP:0030913','Exaggerated rugosity of the labia majora','Marked rugae formation of the skin of the labia majora.'),('HP:0030914','Abnormal peristalsis','An anomaly of the wave-like muscle contractions of the digestive tract.'),('HP:0030915','Cerebellar edema','Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.'),('HP:0030917','Low APGAR score',''),('HP:0030918','Low 1-minute APGAR score',''),('HP:0030919','Low 5-minute APGAR score',''),('HP:0030920','5-minute APGAR score of 0',''),('HP:0030921','5-minute APGAR score of 1',''),('HP:0030922','5-minute APGAR score of 2',''),('HP:0030923','5-minute APGAR score of 3',''),('HP:0030924','5-minute APGAR score of 4',''),('HP:0030925','5-minute APGAR score of 5',''),('HP:0030926','5-minute APGAR score of 6',''),('HP:0030927','1-minute APGAR score of 0',''),('HP:0030928','1-minute APGAR score of 1',''),('HP:0030929','1-minute APGAR score of 2',''),('HP:0030930','1-minute APGAR score of 3',''),('HP:0030931','1-minute APGAR score of 4',''),('HP:0030932','1-minute APGAR score of 5',''),('HP:0030933','1-minute APGAR score of 6',''),('HP:0030934','Oral erythroplakia','A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.'),('HP:0030935','Abnormality of intestinal smooth muscle morphology','A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.'),('HP:0030936','Abnormal layering of muscularis propria','Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.'),('HP:0030937','Fibrotic muscularis propria','The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.'),('HP:0030938','Enteric intraneuronal nuclear inclusion bodies','Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.'),('HP:0030939','Palpebral thickening','An increased thickness of the eyelid not related to acute inflammation.'),('HP:0030943','Vulvodynia','Pain in the vulvar area'),('HP:0030946','Conjunctival papillae','Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.'),('HP:0030947','Conjunctival follicles','Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.'),('HP:0030948','Elevated gamma-glutamyltransferase level','Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.'),('HP:0030949','Glomerular deposits','An abnormal accumulation of protein in the glomerulus.'),('HP:0030950','Pulmonary venous hypertension','An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.'),('HP:0030951','Skeletal muscle fibrosis','Excessive formation of fibrous bands of scar tissue in between muscle fibers.'),('HP:0030952','Birdshot choroidal lesions','Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot.'),('HP:0030953','Conjunctival hyperemia','Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.'),('HP:0030955','Alcoholism','An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.'),('HP:0030956','Abnormality of cardiovascular system electrophysiology','An anomaly of the electrical conduction physiology of the heart.'),('HP:0030957','Ventricular septal aneurysm','A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.'),('HP:0030958','Membranous ventricular septal aneurysm','Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).'),('HP:0030959','Muscular ventricular septal aneurysm','Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).'),('HP:0030960','obsolete Abnormal pupillary morphology',''),('HP:0030961','Microspherophakia','Lens of the eye is smaller than normal and spherically shaped.'),('HP:0030962','Abnormal morphology of the great vessels','A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.'),('HP:0030963','obsolete Abnormal aortic morphology',''),('HP:0030964','Abnormal aortic physiology',''),('HP:0030965','Aortic stiffness','The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.'),('HP:0030966','Abnormal pulmonary artery morphology','An abnormality of the structure of the pulmonary artery.'),('HP:0030967','Abnormal pulmonary artery physiology','An abnormality of the function of the pulmonary artery.'),('HP:0030968','Abnormal pulmonary vein morphology','An abnormality of the structure of the pulmonary veins.'),('HP:0030969','Abnormal pulmonary vein physiology','An abnormality of the function of the pulmonary veins.'),('HP:0030970','Abnormal vena cava physiology','An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.'),('HP:0030971','obsolete Abnormal vena cava morphology',''),('HP:0030972','Abnormal systemic blood pressure','A chronic deviation from normal pressure in the systemic arterial system.'),('HP:0030973','Postexertional malaise','A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise.'),('HP:0030974','Cryptozoospermia','A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out).'),('HP:0030975','Pontine tegmental cap','An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.'),('HP:0030976','Abnormal factor VIII activity','A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.'),('HP:0030977','Increased factor VIII activity','Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.'),('HP:0030978','Decreased CSF/serum albumin ratio','A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.'),('HP:0030979','Dilatation of large choroidal vessels','Enlargement of the large blood vessels in the choroid.'),('HP:0030980','Reduced brain glutamine level by MRS','An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0030981','Abnormal CSF/serum albumin ratio','A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.'),('HP:0030983','Ovarian thecoma','A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.'),('HP:0030984','Abnormal serum bile acid concentration','A deviation from the normal concentration of serum bile acid concentration.'),('HP:0030985','Decreased serum bile concentration','A reduction in the concentration of bile acid in the blood.'),('HP:0030986','Biliary epithelial hyperplasia','Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.'),('HP:0030987','Suppurative cholangitis','Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).'),('HP:0030988','Granulomatous cholangitis','Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.'),('HP:0030989','Lymphoid cholangitis','Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.'),('HP:0030990','Pleomorphic cholangitis','Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.'),('HP:0030991','Sclerosing cholangitis','Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.'),('HP:0030992','Abnormal pancreatic duct morphology','Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.'),('HP:0030993','Duplication of pancreatic duct','A congenital anomaly characterized by the presence of two separate pancreatic ducts.'),('HP:0030994','Pancreas divisum','A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.'),('HP:0030995','Peritoneal effusion','An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).'),('HP:0030996','Megaduodenum','Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.'),('HP:0030997','Atretic vas deferens','Abnormal closure or blockage of the vas deferens.'),('HP:0030998','Cerebrospinal fluid rhinorrhoea','Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.'),('HP:0030999','Abnormal vestibular saccule morphology','Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).'),('HP:0031000','Vestibular saccular degeneration','Deterioration or loss of the tissues of the saccule of the vestibule.'),('HP:0031001','Minifascicle formation','A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.'),('HP:0031002','Neuritis','Inflammation of a nerve.'),('HP:0031003','Polyneuritis','Simulataneous inflammation of multiple nerves.'),('HP:0031004','Hemiareflexia','Areflexia that is limited to one side of the body.'),('HP:0031005','Hyperalgesia','Abnormally increased sensitivity to pain.'),('HP:0031006','Acroparesthesia','A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.'),('HP:0031007','Orofacial action-specific dystonia induced by speech',''),('HP:0031008','Lingual dystonia','Involuntary protrusions, movements, spams and contortions of the tongue.'),('HP:0031009','Ainhum','Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.'),('HP:0031010','Hyperphalangy of the 3rd finger','An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.'),('HP:0031011','Fatty streak','Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.'),('HP:0031012','Thin-cap fibroatheroma','Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.'),('HP:0031013','Ankylosis','A reduction of joint mobility resulting from changes involving the articular surfaces.'),('HP:0031014','Arteria lusoria','Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.'),('HP:0031015','Intrahepatic portal vein sclerosis','Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.'),('HP:0031016','Alternating radiolucent and radiodense metaphyseal lines','Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.'),('HP:0031017','Swiss cheese atrial septal defect','Multiple defects in the atrial septum.'),('HP:0031018','Eccrine syringofibroadenoma','Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).'),('HP:0031019','Pyknotic bone marrow neutrophils','Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.'),('HP:0031020','Bone marrow hypercellularity','A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.'),('HP:0031021','Squamous Papilloma','A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].'),('HP:0031022','Oropharyngeal squamous papilloma','A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].'),('HP:0031023','Multiple mucosal neuromas','Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.'),('HP:0031024','Cylindroma','A benign skin adnexal tumor of eccrine differentiation.'),('HP:0031025','Gastric leiomyosarcoma','A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.'),('HP:0031026','Snail-like ilia','The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.'),('HP:0031027','Internal notch of the femoral head','A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.'),('HP:0031028','Lactescent serum','Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.'),('HP:0031029','Elevated carcinoembryonic antigen level','An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.'),('HP:0031030','Elevated carcinoma antigen 125 level','An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.'),('HP:0031031','Abnormal retinol-binding protein level','A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.'),('HP:0031032','Decreased retinol-binding protein level','A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.'),('HP:0031033','Impaired urinary acidification','The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.'),('HP:0031034','Abnormal insulin like growth factor binding protein acid labile subunit level','A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.'),('HP:0031035','Chronic infection','Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.'),('HP:0031036','Reduced growth-hormone binding protein level','A decreased blood concentration of growth hormone binding protein.'),('HP:0031037','Reduced insulin-like factor 3 level','Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.'),('HP:0031038','Spermatogenesis maturation arrest','Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.'),('HP:0031039','Early spermatogenesis maturation arrest','A type of maturation arrest in which only spermatogonia or spermatocytes are found.'),('HP:0031040','Late spermatogenesis maturation arrest','A type of maturation arrest in which spermatids are detected without spermatozoa.'),('HP:0031041','Obstruction of the superior vena cava','Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.'),('HP:0031042','Strawberry tongue','Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.'),('HP:0031043','Type A4 brachydactyly','A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.'),('HP:0031044','Type A5 brachydactyly','A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.'),('HP:0031045','Acral blistering','Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet)'),('HP:0031046','Absent soft palate','A developmental defect characterized by lack of a soft palate.'),('HP:0031047','Paraproteinemia','An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031048','Light-chain paraproteinemia','An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031049','Heavy-chain paraproteinemia','An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031050','Whole-immunoglobulin paraproteinemia','An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031051','Tarsal sclerosis','An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0031052','Elevated vascular endothelial growth factor level','Increased blood concentration of vascular endothelial growth factor (VEGF).'),('HP:0031053','Coarctation in the transverse aortic arch','Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.'),('HP:0031054','Long segment coarctation of the aorta','Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.'),('HP:0031055','Abnormal branching pattern of left aortic arch','A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).'),('HP:0031056','Fusiform cerebral aneurysm','A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.'),('HP:0031057','Skin fissure','A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.'),('HP:0031058','Impairment of activities of daily living','Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.'),('HP:0031059','Impaired ability to bathe oneself','This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.'),('HP:0031060','Impaired ability to dress oneself','This applies to an individual who needs help with dressing or needs to be completely dressed.'),('HP:0031061','Impaired toileting ability','This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.'),('HP:0031062','Impaired transferring ability','Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.'),('HP:0031063','Impaired feeding ability','Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.'),('HP:0031064','Impaired continence','Partial or total incontinence of bowel or bladder.'),('HP:0031065','Abnormal ovarian morphology',''),('HP:0031066','Abnormal ovarian physiology','Any anomaly of ovarian function.'),('HP:0031067','Empty ovarian follicle','A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.'),('HP:0031068','Increased femoral torsion','Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range.'),('HP:0031069','Abnormal femoral torsion','Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.'),('HP:0031070','Decreased femoral torsion','Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range.'),('HP:0031071','Abnormal endocrine morphology','Any anomaly of the structure of an organ ofthe endocrine system.'),('HP:0031072','Abnormal endocrine physiology','Any anomaly of the function of the endocrine system.'),('HP:0031073','Abnormal response to endocrine stimulation test','An anomalous response to a test that is designed to probe the function of the endocrine system.'),('HP:0031074','Abnormal response to ACTH stimulation test','An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.'),('HP:0031075','Abnormal response to insulin tolerance test','An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.'),('HP:0031076','Impaired cortisol response to insulin stimulation test','Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).'),('HP:0031077','Abnormal response to corticotropin releasing hormone stimulation test','An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.'),('HP:0031078','Impaired cortisol response to corticotropin releasing hormone stimulation test','Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.'),('HP:0031079','Impaired growth-hormone response to insulin stimulation test','Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).'),('HP:0031080','Abnormal response to glucagon stimulation test','An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).'),('HP:0031081','Impaired cortisol response to glucagon stimulation test','Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.'),('HP:0031082','Impaired growth-hormone response to glucagon stimulation test','Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.'),('HP:0031083','Abnormal response to human chorionic gonadotrophin stimulation test','An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.'),('HP:0031084','Excessive insulin response to glucagon test','An abnormally high increase in insulin levels following a glucagon stimulation test.'),('HP:0031085','Decreased prealbumin level','A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.'),('HP:0031086','Ectopic ovary','Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.'),('HP:0031087','Absent pubertal growth spurt','The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.'),('HP:0031088','Vaginal dryness','Persistent vaginal dryness.'),('HP:0031089','Palatal edema','Swelling related to fluid accumulation within the palate.'),('HP:0031090','Finger dactylitis','Fingers appear swollen and plump owing to inflammation of the complete finger.'),('HP:0031091','Toe dactylitis','Toes appear swollen and plump owing to inflammation of the complete toe.'),('HP:0031092','Spindle-shaped finger','Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).'),('HP:0031093','Abnormal breast morphology','Any anomaly of the structure of the breast.'),('HP:0031094','Abnormal breast physiology','Any anomaly of the function of the breast.'),('HP:0031095','Abnormal humerus morphology','Any anomaly of the structure of the humerus.'),('HP:0031096','Delayed vertebral ossification','A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.'),('HP:0031097','Abnormal thyroid-stimulating hormone level','Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.'),('HP:0031098','Decreased thyroid-stimulating hormone level','Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.'),('HP:0031099','Abnormal circulating inhibin level','Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.'),('HP:0031100','Decreased inhibin B level','A reduced concentration of inhibin B in the blood.'),('HP:0031101','Abnormal antimullerian hormone level','Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.'),('HP:0031102','Increased antimullerian hormone level','An elevation above the normal range of the antimullerian hormone in the circulation.'),('HP:0031103','Decreased antimullerian hormone level','A reduction below the normal range of the antimullerian hormone in the circulation.'),('HP:0031104','Insulin receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.'),('HP:0031105','Abnormal uterus morphology','Any anomaly of the structure of the uterus'),('HP:0031106','T-shaped uterus','An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.'),('HP:0031107','Decreased fibular diameter','Reduced width of the cross sectional diameter of the fibula.'),('HP:0031108','Triceps weakness','A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.'),('HP:0031109','Agalactia','Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.'),('HP:0031110','Twin-to-twin transfusion','As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor`s development and growth. The blood volume of the recipient twin is increased, which can strain the fetus`s heart and eventually lead to heart failure.'),('HP:0031111','Cutaneous hamartoma','A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.'),('HP:0031117','Purely bicuspid aortic valve','A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.'),('HP:0031118','Single raphe bicuspid aortic valve','A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.'),('HP:0031119','Bicuspid aortic valve with right-left cusp fusion','A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.'),('HP:0031120','Bicuspid aortic valve with right-noncoronary cusp fusion','A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.'),('HP:0031121','Bicuspid aortic valve with left-noncoronary cusp fusion','A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.'),('HP:0031122','Two-raphe bicuspid aortic valve','A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.'),('HP:0031123','Recurrent gastroenteritis','Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.'),('HP:0031124','Decreased platelet thromboxane A2 receptor','Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).'),('HP:0031125','Decreased platelet alpha-2A-adrenergic receptor','Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.'),('HP:0031126','Impaired clot retraction','Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.'),('HP:0031127','Impaired convulxin-induced platelet aggregation','Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.'),('HP:0031128','Impaired collagen-related peptide-induced platelet aggregation','Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.'),('HP:0031129','Impaired phorbol myristate acetate-induced platelet aggregation','Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.'),('HP:0031130','Impaired calcium ionophore-induced platelet aggregation','Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.'),('HP:0031131','Abnormal platelet phosphatidylserine exposure','An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.'),('HP:0031132','Impaired annexin V binding to platelet phosphatidylserine','Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.'),('HP:0031133','Increased annexin V binding to platelet phosphatidylserine','Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.'),('HP:0031134','Cor triatrium sinister','A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.'),('HP:0031135','Triggered by physical trauma','Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).'),('HP:0031136','Decreased acrosin in sperm head','A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.'),('HP:0031137','Storage in hepatocytes','Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.'),('HP:0031138','Abnormal B-type natriuretic peptide level','A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).'),('HP:0031139','Frog-leg posture','A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.'),('HP:0031140','Abnormal liver sonography','An abnormal appearance of the liver or any of its components on sonography (ultrasound).'),('HP:0031141','Increased hepatic echogenicity','Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.'),('HP:0031142','Abnormal hepatic echogenicity','Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).'),('HP:0031143','Decreased hepatic echogenicity','Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.'),('HP:0031144','Coarsened hepatic echotexture','The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.'),('HP:0031145','Starry sky appearance on hepatic sonography','An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).'),('HP:0031146','Impaired oral bolus formation','An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.'),('HP:0031150','Vitreomacular adhesion','Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.'),('HP:0031151','Vitreomacular traction','Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.'),('HP:0031152','Full-thickness macular hole','Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.'),('HP:0031153','Membranous vitreous appearance','Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.'),('HP:0031154','Beaded vitreous appearance','Vitreous humor of the eye displaying beaded bundles of irregular diameters.'),('HP:0031155','Increased Arden ratio of electrooculogram','An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.'),('HP:0031156','Decreased platelet glycoprotein Ib','Decreased platelet cell membrane concentration of glycoprotein Ib.'),('HP:0031157','Carotid cavernous fistula','An abnormal connection between a carotid artery and the cavernous sinus.'),('HP:0031158','Widened atrophic scar','An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.'),('HP:0031159','Thinning of Descemet membrane','A reduction in the thickness of Descemet`s membrane.'),('HP:0031160','Myelokathexis','Impaired egress of mature neutrophils from bone marrow causing neutropenia.'),('HP:0031161','Reduced brain glutamate level by MRS','An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0031162','Impaired oropharyngeal swallow response','Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.'),('HP:0031163','Low femoral bone density','Reduced bone mineral density of the femur.'),('HP:0031164','Growth arrest lines','Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.'),('HP:0031165','Multifocal seizures','Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).'),('HP:0031166','Eyelid myokymia','Involuntary, fine, continuous, undulating contractions of the eyelid.'),('HP:0031167','Triggered by ingestion of potassium-rich food','Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.'),('HP:0031169','Postterm pregnancy','A pregnancy that extends to 42 weeks of gestation or beyond.'),('HP:0031170','Female fetal virilization','Fetal masculinization of female external genitalia.'),('HP:0031171','Femoral spur','A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.'),('HP:0031172','Sectoral retinitis pigmentosa','A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.'),('HP:0031173','Tibial spur','A bony projection (spur, osteophyte) originating from the tibia.'),('HP:0031174','Double-layered patella','An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.'),('HP:0031175','Absent cervical vertebra','A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.'),('HP:0031176','Absent thoracic vertebra','A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.'),('HP:0031177','Finger flexor weakness','Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.'),('HP:0031178','Fixed head retroflexion','Head is bent in the posterior direction in a permanent fashion.'),('HP:0031179','Nuchal rigidity','Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.'),('HP:0031180','Erythema migrans','An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).'),('HP:0031181','Necrolytic migratory erythema','Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.'),('HP:0031185','Increased NT-proBNP level','An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).'),('HP:0031186','Abnormal circulating deoxycorticosterone level','An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.'),('HP:0031187','Abnormality of circulating pregnenolone level','An abnormality of the concentration of pregnenolone in the blood.'),('HP:0031188','Genital edema','A buildup of fluid that causes swelling in the soft tissues of the genital area.'),('HP:0031189','Wrist drop','A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.'),('HP:0031190','Superficial dermal perivascular inflammatory infiltrate','Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.'),('HP:0031191','Deep dermal perivascular inflammatory infiltrate','Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.'),('HP:0031192','Abnormal morphology of left ventricular trabeculae','Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0031193','Abnormal morphology of right ventricular trabeculae','Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0031194','Increased density of left ventricular trabeculae','An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0031195','Apical hypertrabeculation of the left ventricle','An increased number and density of the trabeculae in the apex (tip) of the left ventricle.'),('HP:0031196','Thin myocardium compact layer','Reduced thickness of the outer, dense layer of the myocardium.'),('HP:0031197','Cellular urinary casts','A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).'),('HP:0031198','Renal tubular epithelial cell casts','A type of cellular urinary cast composed of renal tubular epithelial cells.'),('HP:0031199','Acellular urinary casts','A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.'),('HP:0031200','Hyaline casts','A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.'),('HP:0031201','Granular casts','A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.'),('HP:0031202','Waxy casts','A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.'),('HP:0031203','Fatty casts','A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.'),('HP:0031204','Bacterial cell casts','A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.'),('HP:0031205','Reduced lysosomal acid lipase activity','Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.'),('HP:0031206','Striatal T2 hyperintensity','Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.'),('HP:0031207','Hepatic hemangioma','A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.'),('HP:0031208','Increased pituitary glycoprotein hormone alpha subunit level','An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.'),('HP:0031209','Decreased lipoprotein lipase level','Reduction in the level of lipoprotein lipase in the blood.'),('HP:0031210','Abnormal circulating hyaluronic acid concentration','A deviation from the normal concentration of hyaluronic acid in the blood.'),('HP:0031211','Elevated cholesterol ester level','An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.'),('HP:0031212','Abnormal circulating progesterone level',''),('HP:0031213','Elevated circulating 17-hydroxyprogesterone','An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.'),('HP:0031214','Decreased circulating dehydroepiandrosterone level',''),('HP:0031215','Decreased circulating dehydroepiandrosterone-sulfate level','A reduced concentration of dehydroepiandrosterone-sulfate in the blood.'),('HP:0031216','Increased circulating progesterone','An elevated concentration of progesterone in the blood.'),('HP:0031217','Hot flashes','Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.'),('HP:0031218','Inappropriate antidiuretic hormone secretion','A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.'),('HP:0031219','Reduced radioactive iodine uptake','A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.'),('HP:0031220','Increased radioactive iodine uptake','An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.'),('HP:0031221','Abnormal radioactive iodine uptake test result','Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.'),('HP:0031222','Increased circulating thyroxine-binding globulin level','An elevated concentration of thyroxine-binding globulin (TBG) in the blood.'),('HP:0031223','Focal pancreatic islet hyperplasia','Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.'),('HP:0031224','Diffuse pancreatic islet hyperplasia','Hyperplasia of the islets of Langerhans with a generalized distribution.'),('HP:0031225','Intrapulmonary shunt','Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.'),('HP:0031226','Perinephric fluid collection','An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.'),('HP:0031227','Nasopharyngeal teratoma','A teratoma arising in the nasopharyngeal region.'),('HP:0031228','Abnormal incisura morphology','An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.'),('HP:0031229','Increased incisura length','The length of the incisura from the upper to lower border is greater than that observed in the average population.'),('HP:0031230','Decreased incisura length','The length of the incisura from the upper to lower border is less than that observed in the average population.'),('HP:0031231','Narrow incisura width','Width of the incisura from the anterior to posterior border less than that observed in the average population.'),('HP:0031232','Increased incisura width','Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.'),('HP:0031233','Horizontal inferior border of scapula','A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).'),('HP:0031234','Neutrophilic infiltration of the skin','A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).'),('HP:0031235','Predominantly epidermal neutrophilic infiltrate','Collection of neutrophils in the epidermis.'),('HP:0031236','Predominantly dermal neutrophilic infiltrate','Collection of neutrophils in the dermis.'),('HP:0031237','Internally nucleated skeletal muscle fibers','An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells).'),('HP:0031238','Necklace skeletal muscle fibers','A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.'),('HP:0031239','Extrafoveal choroidal neovascularization','A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.'),('HP:0031240','Juxtafoveal choroidal neovascularization','A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.'),('HP:0031241','Subfoveal choroidal neovascularization','A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.'),('HP:0031242','Decreased circulating chylomicron concentration','Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.'),('HP:0031243','Decreased VLDL cholesterol concentration','A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.'),('HP:0031244','Swollen lip','Enlargement of the lip typically due to fluid buildup or inflammation.'),('HP:0031245','Productive cough','A cough that produces phlegm or mucus.'),('HP:0031246','Nonproductive cough','A cough that does not produce phlegm or mucus.'),('HP:0031247','Whooping cough','A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.'),('HP:0031248','Palmar pruritus','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.'),('HP:0031249','Parageusia','A distortion of the sense of taste, often characterized by the sensation of a metallic taste.'),('HP:0031250','Lip fissure','A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.'),('HP:0031251','Abnormal subclavian artery morphology','Any anomaly of a subclavian artery.'),('HP:0031252','Dilated left subclavian artery','Abnormally increased caliber of the left subclavian artery.'),('HP:0031253','Anomalous origin of left subclavian artery','Origin of the left subclavian artery from an anomalous anatomical location.'),('HP:0031254','Thalamic arteriovenous malformation','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.'),('HP:0031255','Hypothalamic arteriovenous malformation','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.'),('HP:0031256','Optic nerve arteriovenous malformation','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.'),('HP:0031257','Arteriovenous malformation of the maxilla','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.'),('HP:0031258','Delirium','A state of sudden and severe confusion.'),('HP:0031259','Oophoritis','An inflammation of the ovary or ovaries.'),('HP:0031260','Triangular tibia','A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.'),('HP:0031261','Bladder polyp','An abnormal growth that projects from the mucous membrane of the urinary bladder.'),('HP:0031263','Abnormal renal corpuscle morphology','Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.'),('HP:0031264','Abnormal morphology of Bowman capsule','A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.'),('HP:0031265','Abnormal podocyte morphology','Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.'),('HP:0031266','Podocyte foot process effacement','An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.'),('HP:0031267','Abnormal CD69 upregulation upon TCR activation','Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.'),('HP:0031268','Decreased CD69 upregulation upon TCR activation','Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).'),('HP:0031269','Abnormal CD25 upregulation upon TCR activation','Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.'),('HP:0031270','Decreased CD25 upregulation upon TCR activation','Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).'),('HP:0031271','Absent ankle pulse','The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.'),('HP:0031272','Pulmonary arterial atherosclerosis','Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.'),('HP:0031273','Shock','The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.'),('HP:0031274','Hypovolemic shock','A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.'),('HP:0031275','Distributive shock','A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage'),('HP:0031276','Obstructive shock','A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).'),('HP:0031278','Abnormal thoracic duct morphology','Any structural anomaly of the thoracic duct.'),('HP:0031279','Abnormal response to gonadotropin-releasing hormone stimulation test','An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).'),('HP:0031280','Increased LH response to gonadotropin-releasing hormone stimulation test','An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.'),('HP:0031281','Sialadenitis','Inflammation of a salivary gland.'),('HP:0031282','Malalignment of the great toenail','A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.'),('HP:0031283','Tufted hairs','The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.'),('HP:0031284','Flushing','Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.'),('HP:0031285','Abnormal perifollicular morphology','Any structural anomaly in the areas surrounding the hair follicles.'),('HP:0031286','Perifollicular erythema','Redness surrounding the hair follicles.'),('HP:0031287','Seborrheic keratosis','A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.'),('HP:0031288','Cobblestone-like hyperkeratosis','The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.'),('HP:0031289','White papule','A papule with white color.'),('HP:0031290','Tuberous xanthoma','A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.'),('HP:0031291','Ichthyosis follicularis','Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.'),('HP:0031292','Cutaneous abscess','A circumscribed area of pus or necrotic debris in the skin.'),('HP:0031293','Digital pitting scar','Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.'),('HP:0031294','Hypoplastic right atrium','Underdeveloped, small right heart atrium.'),('HP:0031295','Left atrial enlargement','Increase in size of the left atrium.'),('HP:0031296','Atrial septal hypertrophy','An abnormal increase in the thickness of the atrial septum.'),('HP:0031297','Unroofed coronary sinus','Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.'),('HP:0031298','Coronary sinus enlargement','Abnormal increase in size of the coronary sinus.'),('HP:0031299','Elevated left atrial pressure','An abnormal increase in magnitude of the pressure in the left atrium.'),('HP:0031300','Abnormal circulating properdin level','A deviation from the normal concentration of properdin in the blood.'),('HP:0031301','Peripheral arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.'),('HP:0031302','Lower extremity peripheral arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.'),('HP:0031303','Femoral arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.'),('HP:0031304','Iliac arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.'),('HP:0031305','Tibial arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.'),('HP:0031306','Intracranial arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).'),('HP:0031307','Internal carotid artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.'),('HP:0031308','Vertebral artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.'),('HP:0031309','Cerebral artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.'),('HP:0031310','Basilar artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.'),('HP:0031311','Middle cerebral artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.'),('HP:0031313','Abdominal aortic calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.'),('HP:0031314','Carotid artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.'),('HP:0031315','External carotid artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.'),('HP:0031316','Abnormal ventricular myocardium morphology','A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.'),('HP:0031317','Fatty replacement of ventricular myocardial tissue','Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.'),('HP:0031318','Myofiber disarray','A nonparallel arrangement of cardiac myocytes.'),('HP:0031319','Cardiomyocyte hypertrophy','An abnormal increase in the volume of cardiac myocytes.'),('HP:0031320','Cardiomyocyte mitochondrial proliferation','An abnormal increase in the number of mitochondria per cardiac myocyte.'),('HP:0031321','Myocardial immune cell infiltration','An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).'),('HP:0031322','Myocardial lymphocytic infiltration','An increase in the number of lymphocytes in myocardial tissue.'),('HP:0031323','Myocardial eosinophilic infiltration','An increase in the number of eosinophils in myocardial tissue.'),('HP:0031324','Myocardial multinucleated giant cells','The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.'),('HP:0031325','Myocardial granulomatous infiltrates','The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.'),('HP:0031326','Monoclonal light chain cardiac amyloidosis','A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.'),('HP:0031327','Transthyretin cardiac amyloidosis','A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.'),('HP:0031328','Perivascular cardiac fibrosis','A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.'),('HP:0031329','Interstitial cardiac fibrosis','A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.'),('HP:0031330','Perivascular myocardial immune cell infiltration','An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.'),('HP:0031331','Abnormal cardiomyocyte morphology','Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.'),('HP:0031332','Cardiomyocyte degeneration','Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.'),('HP:0031333','Myocardial sarcomeric disarray','A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.'),('HP:0031334','Cardiomyocyte inclusion bodies','Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.'),('HP:0031335','Abnormal cardiomyocyte mitochondrial morphology','An anomaly of the structure of mitochondria within cardiomyocytes.'),('HP:0031336','Intranuclear cardiomyocyte mitochondria','Abnormal localization of mitochondria within the nuclei of cardiomyocytes.'),('HP:0031337','Abnormal cardiomyocyte connexin43 staining','Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.'),('HP:0031338','Abnormal cardiomyocyte plakoglobin staining','Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.'),('HP:0031339','Abnormal cadiomyocyte dystrophin staining','Anomalous staining of dystrophin in cardiomyocytes.'),('HP:0031340','Abnormal lysosomal morphology','A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.'),('HP:0031341','Gastric arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.'),('HP:0031342','Duodenal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.'),('HP:0031343','Jejunal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.'),('HP:0031344','Pelvic arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.'),('HP:0031345','Colonic arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.'),('HP:0031346','Rectal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.'),('HP:0031347','Uterine arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.'),('HP:0031348','Dextrotransposition of the great arteries','A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.'),('HP:0031349','Levotransposition of the great arteries','A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.'),('HP:0031350','Cardiac sarcoma','A malignant soft tissue neoplasm that arises from the heart.'),('HP:0031351','Calcified amorphous tumor of the heart','A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.'),('HP:0031352','Chest tightness','An unpleasant sensation of tightness or pressure in the chest.'),('HP:0031353','Otitis media with effusion','Otitis media characterized by thick or sticky fluid behind the tympanic membrane.'),('HP:0031354','Sleep onset Insomnia','Difficulty initiating sleep, that is, increased sleep onset latency.'),('HP:0031355','Maintenance insomnia','Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.'),('HP:0031356','Terminal insomnia','A type of insomnia characterized by waking up (too) early in the morning.'),('HP:0031357','Glomeruloid hemangioma','A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.'),('HP:0031358','Vegetative state','Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities).'),('HP:0031359','Cutaneous sclerotic plaque','A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).'),('HP:0031360','Yellow skin plaque','A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.'),('HP:0031361','Zebra bodies','Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.'),('HP:0031362','Sex-limited autosomal recessive inheritance','A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females).'),('HP:0031363','Palpable purpura','A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).'),('HP:0031364','Ecchymosis','A purpuric lesion that is larger than 1 cm in diameter.'),('HP:0031365','Macular purpura','Purpura that is flat (non-palpable, not raised).'),('HP:0031366','Palate neoplasm','A neoplasm that affects the hard palate, soft palate, or uvula.'),('HP:0031367','Metaphyseal striations','Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).'),('HP:0031368','Intestinal perforation','A hole (perforation) in the wall of the intestine.'),('HP:0031369','Colon perforation','A hole (perforation) in the wall of the colon.'),('HP:0031370','Small intestinal perforation','A hole (perforation) in the wall of the small intestine.'),('HP:0031371','Rectal perforation','A hole (perforation) in the wall of the rectum.'),('HP:0031372','Cold paresis','Increased muscle weakness upon exposure to cold temperatures.'),('HP:0031373','Stiff tongue','Increased rigidity and reduced mobility of the tongue.'),('HP:0031374','Ankle weakness','Reduced strength of the muscles that lift or otherwise move the foot at the ankle.'),('HP:0031375','Refractory','Applies to a sign or symptom that is difficult to treat or cure.'),('HP:0031377','Abnormal cell proliferation','Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.'),('HP:0031378','Abnormal lymphocyte proliferation','Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.'),('HP:0031379','Abnormal T cell proliferation','Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.'),('HP:0031380','Abnormal B cell proliferation','Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.'),('HP:0031381','Decreased lymphocyte proliferation in response to mitogen','A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).'),('HP:0031382','Decreased lymphocyte proliferation in response to anti-CD3','A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.'),('HP:0031383','Abnormal lymphocyte surface marker expression','Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.'),('HP:0031384','Reduced T cell CD40 expression','A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.'),('HP:0031385','Megakaryocyte nucleus hypolobulation','The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.'),('HP:0031386','Increased micromegakaryocyte count','The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.'),('HP:0031387','Increased multinucleated megakaryocyte count','The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.'),('HP:0031388','Megakaryocyte nucleus hyperlobulation','The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.'),('HP:0031389','Abnormal MHC II surface expression','A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.'),('HP:0031390','Reduced MHC II surface expression','A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.'),('HP:0031391','Elevated MHC II surface expression','An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.'),('HP:0031392','Abnormal proportion of CD4-positive T cells','Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.'),('HP:0031393','Abnormal proportion of CD8-positive T cells','Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.'),('HP:0031394','Abnormal CD4:CD8 ratio','Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.'),('HP:0031396','Abnormal proportion of naive T cells','Any abnormality in the proportion of naive T cells relative to the total number of T cells.'),('HP:0031397','Decreased proportion of naive T cells','An abnormally decreased proportion of naive T cells relative to the total number of T cells.'),('HP:0031398','Increased proportion of naive T cells','An abnormally increased proportion of naive T cells relative to the total number of T cells.'),('HP:0031399','Abnormal proportion of double-negative alpha-beta regulatory T cell','An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.'),('HP:0031401','Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells','An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.'),('HP:0031402','Reduced antigen-specific T cell proliferation','Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.'),('HP:0031403','Impaired pathogen-specific CD8 cytoxicity','Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.'),('HP:0031404','Impaired antigen-specific response','An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).'),('HP:0031405','Poroma','A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].'),('HP:0031406','Abnormal cytokine signaling','Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.'),('HP:0031407','Impaired cytokine signaling','A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.'),('HP:0031408','Increased proportion of CD25+ mast cells','An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).'),('HP:0031409','Abnormal lymphocyte physiology','Any anomaly of lymphocyte function.'),('HP:0031410','Abnormal distribution of CD56 bright/dim natural killer cells','An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.'),('HP:0031411','Abnormal chromosome morphology','Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.'),('HP:0031412','Abnormal telomere morphology',''),('HP:0031413','Short telomere length','An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.'),('HP:0031414','High serum calcifediol','An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.'),('HP:0031415','High serum calcitriol','An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.'),('HP:0031416','Abnormal nasal mucus secretion','Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.'),('HP:0031417','Rhinorrhea','Increased discharge of mucus from the nose.'),('HP:0031418','Increased body mass index','Abnormally increased weight-to-height squared ratio, calculated by dividing the individual`s weight in kilograms by the square of the individual`s height in meters and used as an indicator of overweight compared to averages.'),('HP:0031419','Reduced sex -hormone binding protein level','A decreased concentration of sex-hormone binding protein in the circulation.'),('HP:0031420','Small yellow foveal lesion with surrounding gray zone','A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.'),('HP:0031421','Small superior frontal cortex','Reduced size of the superior frontal portion of the cerebral cortex.'),('HP:0031422','Abnormal morphology of the cerebellar cortex','Any structural anomaly of the cortex of the cerebellum.'),('HP:0031423','Small cerebellar cortex','Reduced size of the cerebellar cortex.'),('HP:0031424','Abnormal circulating beta-C-terminal telopeptide level','A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.'),('HP:0031425','Increased circulating beta-C-terminal telopeptide level','A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.'),('HP:0031426','Decreased circulating beta-C-terminal telopeptide level','A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.'),('HP:0031427','Abnormal circulating osteocalcin level','A deviation from the normal concentration of osteocalcin in the blood circulation.'),('HP:0031428','Increased circulating osteocalcin level','An elevated level of osteocalcin in the blood.'),('HP:0031429','Decreased circulating osteocalcin level','A reduced level of osteocalcin in the blood.'),('HP:0031430','Oligoclonal T cell expansion','The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.'),('HP:0031431','Persistent repetition of words','Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others.'),('HP:0031432','Persistent repetition of actions','Repeated and inappropriate mechanical repetition of actions.'),('HP:0031433','Alexithymia','A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others.'),('HP:0031434','Abnormal speech prosody','An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm.'),('HP:0031435','Monotonic speech','A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.'),('HP:0031436','Increased pitch variability of speech','A speech pattern characterized by abnormally elevated variability of the pitch of the voice.'),('HP:0031437','Pregnancy exposure','Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.'),('HP:0031438','Abnormal sex hormone-binding globulin level','A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.'),('HP:0031439','Abnormal angiostatin level','A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.'),('HP:0031440','obsolete Abnormal tricuspid valve morphology',''),('HP:0031441','Abnormal tricuspid valve annulus morphology','Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.'),('HP:0031442','Abnormal tricuspid chordae tendinae morphology','Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.'),('HP:0031443','Abnormal tricuspid valve leaflet morphology','Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.'),('HP:0031444','Dilatation of the tricuspid annulus','An increase in the diameter of the ring (annulus) of the tricuspid valve.'),('HP:0031445','Oral mucosa nodule','A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.'),('HP:0031446','Erosion of oral mucosa','Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.'),('HP:0031447','Penile freckling','Multiple pigmented macules located on the skin of the penis.'),('HP:0031448','Herpetiform vesicles','Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.'),('HP:0031449','Perineal hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.'),('HP:0031450','Polycyclic','A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.'),('HP:0031451','Lower extremity subcutanous fat hypertrophy','An abnormal increase in the amount of subcutaneous fat in the legs.'),('HP:0031452','Lichenoid skin lesion','Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.'),('HP:0031453','Oral lichenoid lesion','Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.'),('HP:0031454','Apocrine hidrocystoma','A cystic lesions that forms a benign tumor of an apocrine sweat gland.'),('HP:0031455','Presacral ganglioneuroma','A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.'),('HP:0031456','Ectopic pregnancy','A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).'),('HP:0031457','Pulmonary opacity','Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image).'),('HP:0031458','Adenoiditis','An inflammation of the adenoid tissue.'),('HP:0031459','Soft tissue neoplasm','A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.'),('HP:0031460','Benign muscle neoplasm','A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].'),('HP:0031461','Intramuscular Myxoma','A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.'),('HP:0031462','Musculotendinous retraction','Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.'),('HP:0031463','Esophageal squamous papilloma','A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.'),('HP:0031464','Genital blistering','The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.'),('HP:0031465','Abnormal vasa vasorum morphology','A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.'),('HP:0031466','Impairment in personality functioning','A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.'),('HP:0031467','Negative affectivity','A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.'),('HP:0031468','Separation insecurity','Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy.'),('HP:0031469','Low self esteem','Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.'),('HP:0031472','Risk taking','Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one`s limitations and denial of the reality of personal danger.'),('HP:0031473','Hostility','Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.'),('HP:0031474','Pulmonary chondroma','A benign cartilaginous tumors of the lung.'),('HP:0031475','Status epilepticus without prominent motor symptoms','There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.'),('HP:0031476','Abnormal buccal mucosa cell morphology','Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).'),('HP:0031477','obsolete Abnormal mitral valve morphology',''),('HP:0031478','Abnormal mitral valve annulus morphology','Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.'),('HP:0031479','Dilatation of the mitral annulus','An increase in the diameter of the ring (annulus) of the mitral valve.'),('HP:0031480','Abnormal mitral valve leaflet morphology','Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.'),('HP:0031481','Abnormal mitral valve physiology','Any functional anomaly of the mitral valve.'),('HP:0031482','Abnormal regional left ventricular contraction','A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.'),('HP:0031483','Reduced contraction of the left ventricular apex','Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.'),('HP:0031484','Cold-induced hemolysis','A form of hemolytic anemia that can be triggered by cold temperatures.'),('HP:0031485','Subperiosteal bone formation','The formation of new bone along the cortex and underneath the periosteum of a bone.'),('HP:0031486','Vascular malformation of the lip','An anomaly of blood vessels located in the lip.'),('HP:0031487','Capillary malformation of the lip','A vascular malformation located in the lip that is characterized by\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.'),('HP:0031488','Arteriovenous malformation of the lip','A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.'),('HP:0031489','Venous malformation of the lip','A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.'),('HP:0031490','Hemangioma of the lip','A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.'),('HP:0031491','Continuous spike and waves during slow sleep','Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.'),('HP:0031492','Epithelial neoplasm','A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].'),('HP:0031493','Glandular cell neoplasm','A tumor that arises from a gland cell.'),('HP:0031494','Ovarian mucinous tumor','Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.'),('HP:0031495','Mucinous neoplasm',''),('HP:0031496','Mucinous cystic neoplasm of the pancreas','Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.'),('HP:0031497','Mucinous colorectal carcinoma','A subtype of colorectal carcinoma with mucin lakes.'),('HP:0031498','Mucinous gastric carcinoma','A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.'),('HP:0031499','Appendiceal mucinous neoplasm','An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.'),('HP:0031500','Abdominal mass','An abnormal enlargement or swelling in the abdomen.'),('HP:0031501','Pelvic mass','An abnormal enlargement or swelling in the pelvic region.'),('HP:0031502','Trophoblastic tumor','A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].'),('HP:0031503','Night gasping','Waking up at night gasping for breath.'),('HP:0031504','Foamy urine','Urine has an increased amount of frothy fine bubbles.'),('HP:0031505','Abnormal circulating thyroxine level','A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).'),('HP:0031506','Increased circulating thyroxine level','An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).'),('HP:0031507','Decreased circulating thyroxine level','A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).'),('HP:0031508','Abnormal thyroid hormone level','Any deviation from the normal range of the hormones produced by the thyroid gland.'),('HP:0031509','Dry nipple',''),('HP:0031510','Linear earlobe crease','A transverse linear fissure (crease) in the lobule of the ear.'),('HP:0031511','Diagonal earlobe crease','Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.'),('HP:0031512','Abnormal cutaneous collagen fibril morphology',''),('HP:0031513','Luse bodies','Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.'),('HP:0031514','Increased proportion of exhausted T cells','An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.'),('HP:0031515','Abnormal meiosis','Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.'),('HP:0031516','Oocyte arrest at metaphase I','Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.'),('HP:0031517','Verruciform xanthoma','A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.'),('HP:0031518','Absent posterior alpha rhythm','Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.'),('HP:0031519','Cauliflower deformity of dermal collagen fibrils','An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.'),('HP:0031520','Groin pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.'),('HP:0031521','Vaginal clear cell adenocarcinoma','A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.'),('HP:0031522','Cervical clear cell adenocarcinoma','A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.'),('HP:0031523','Salivary gland oncocytoma','A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)'),('HP:0031524','Ampulla of Vater carcinoma','A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.'),('HP:0031525','Keratoacanthoma','Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.'),('HP:0031526','Subretinal fluid','Edema/fluid accumulating between the retinal pigment epithelium and Bruch`s membrane.'),('HP:0031527','Intraretinal fluid','Edema/fluid accumulating within the retinal layers.'),('HP:0031528','Subretinal deposits','Deposits accumulating between the outer retina and the retinal pigment epithelium.'),('HP:0031529','Focal subretinal deposits','Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.'),('HP:0031530','Multifocal subretinal deposits','Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.'),('HP:0031531','Sub-RPE deposits','Deposits accumulating between the retinal pigment epithelium and Bruch`s membrane.'),('HP:0031532','Focal sub-RPE deposits','Deposits accumulating between the retinal pigment epithelium and Bruch`s membrane and that are distributed in a single focus.'),('HP:0031533','Multifocal sub-RPE deposits','Deposits accumulating between the retinal pigment epithelium and Bruch`s membrane and that are distributed in multiple foci.'),('HP:0031534','Passive dorsiflexion of the 5th finger more than 90 degrees','An abnormally increased ability to bend (dorsiflex) one`s fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.'),('HP:0031535','Increased theta frequency activity in EEG','Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.'),('HP:0031536','Separate origin of the left anterior descending and left circumflex artery','Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).'),('HP:0031537','Anomalous origin of the left circumflex artery from the right coronary artery','An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).'),('HP:0031538','Abnormal dermoepidermal junction morphology','Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.'),('HP:0031539','Linear IgA deposits along the epidermal basement membrane zone','Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.'),('HP:0031540','Linear IgG deposits along the epidermal basement membrane zone','Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.'),('HP:0031541','Linear C3 deposits along the epidermal basement membrane zone','Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.'),('HP:0031542','Myelin-like whorls in vacuolated fibers','Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.'),('HP:0031544','Elevated propionylcarnitine level','An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.'),('HP:0031545','Abnormally low T cell receptor excision circle level','Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.'),('HP:0031546','Cardiac conduction abnormality','Any anomaly of the progression of electrical impulses through the heart.'),('HP:0031547','Abnormal QT interval','Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).'),('HP:0031548','Follicular infundibulum tumor','A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.'),('HP:0031549','Lymphocytoma cutis','Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.'),('HP:0031550','Abnormal flow cytometry test result','Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.'),('HP:0031551','Reduced cell surface marker level','Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.'),('HP:0031552','Reduced fibroblast surface marker level','Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.'),('HP:0031553','Reduced granulocyte surface marker level','Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.'),('HP:0031554','Reduced granulocyte CD55 level','Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.'),('HP:0031555','Reduced granulocyte CD59 level','Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.'),('HP:0031556','Reduced granulocyte CD16 level','Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.'),('HP:0031557','Reduced fibroblast CD55 level','Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.'),('HP:0031558','Reduced fibroblast CD59 level','Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.'),('HP:0031559','Reduced fibroblast CD16 level','Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.'),('HP:0031560','Coronary cameral fistula','An abnormal communication between coronary artery and a cardiac chamber.'),('HP:0031561','Coronary cameral fistula to right ventricle','An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.'),('HP:0031562','Balanced double aortic arch','A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.'),('HP:0031563','Coronary arteriovenous fistula','An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.'),('HP:0031564','Bronchial isomerism','An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).'),('HP:0031565','Abdominal situs ambiguus','An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.'),('HP:0031566','Abnormal pulmonary valve cusp morphology','Any structural anomaly of the pulmonary valve leaflets.'),('HP:0031567','Abnormal aortic valve cusp morphology','Any structural anomaly of the aortic valve leaflets.'),('HP:0031568','Thickened aortic valve cusp','An abnormally increased thickness of a leaflet of the aortic valve.'),('HP:0031569','Absent aortic valve cusps','A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.'),('HP:0031570','Tessier number 0 facial cleft','A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.'),('HP:0031571','Paramedian facial cleft','A type of facial cleft located near to but not directly on the midline of the face.'),('HP:0031572','Tessier number 1 facial cleft','As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid`s bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.'),('HP:0031573','Tessier number 2 facial cleft','As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.'),('HP:0031574','Orbital cleft','A facial cleft characterized by involvement of the orbit.'),('HP:0031575','Tessier number 3 facial cleft','As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.'),('HP:0031576','Tessier number 4 facial cleft','The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.'),('HP:0031577','Tessier number 5 facial cleft','The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.'),('HP:0031578','Tessier number 6 facial cleft','A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.'),('HP:0031579','Tessier number 7 facial cleft','The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.'),('HP:0031580','Tessier number 8 facial cleft','The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ``Goldenhar syndrome``. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.'),('HP:0031581','Tessier number 9 facial cleft','This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.'),('HP:0031582','Tessier number 10 facial cleft','In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.'),('HP:0031583','Tessier number 11 facial cleft','An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.'),('HP:0031584','Tessier number 12 facial cleft','There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.'),('HP:0031585','Tessier number 13 facial cleft','There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow`s peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.'),('HP:0031586','Tessier number 14 facial cleft','This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.'),('HP:0031587','Tessier number 30 facial cleft','A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.'),('HP:0031588','Unhappy demeanor','A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.'),('HP:0031589','Suicidal ideation','Frequent thinking about or preoccupation with killing onself.'),('HP:0031590','Asthenopia','Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to `overuse` of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.'),('HP:0031591','Enlarged Eustachian valve','An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.'),('HP:0031592','Situs inversus with levocardia','Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.'),('HP:0031593','Abnormal PR interval','An anomaly of the PR interval, which is the portion of the ECG from the end of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.'),('HP:0031594','PR segment depression','A reduction in voltage of the PR segment below baseline.'),('HP:0031595','Abnormal P wave','Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.'),('HP:0031596','Abnormal PR segment','An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.'),('HP:0031597','PR segment elevation','An increase in voltage of the PR segment above baseline.'),('HP:0031598','Notched P wave','V-shaped cut (notch) in the middle of the P wave.'),('HP:0031599','P mitrale','A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.'),('HP:0031600','P wave inversion','P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.'),('HP:0031601','P pulmonale','The presence of tall, peaked P waves in EKG lead II.'),('HP:0031602','Abnormal mucociliary clearance','An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \nbeating.'),('HP:0031603','Impaired nasal mucociliary clearance','An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.'),('HP:0031604','Agenesis of the carotid canal','A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.'),('HP:0031605','Abnormality of fundus pigmentation','Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.'),('HP:0031606','Retinal cotton wool spot','Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.'),('HP:0031607','Pelvic organ prolapse','Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.'),('HP:0031609','Geographic atrophy','Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.'),('HP:0031610','Recurrent shoulder dislocation','Shoulder dislocation occurring repeated times.'),('HP:0031611','Sub-inner limiting membrane hemorrhage','A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.'),('HP:0031613','Inferior chorioretinal coloboma','Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.'),('HP:0031614','Inferior retinal coloboma','A notch or cleft of the lower part of the retina.'),('HP:0031615','Hypopyon','Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.'),('HP:0031616','Anterior chamber flare','An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.'),('HP:0031618','Anterior chamber flare grade 1+','Faint anterior chamber flare.'),('HP:0031619','Anterior chamber flare grade 2+','Moderate anterior chamber flare (iris and lens details clear).'),('HP:0031620','Anterior chamber flare grade 3+','Marked anterior chamber flare (iris and lens details hazy).'),('HP:0031621','Anterior chamber flare grade 4+','Intense anterior chamber flare (fibrin/plastic aqueous).'),('HP:0031622','Brown anomaly','An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.'),('HP:0031623','Brow ptosis','Drooping of the upper eyebrow below the superior orbital rim.'),('HP:0031624','Moderate myopia','A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.'),('HP:0031625','Pseudoaneurysm',''),('HP:0031626','Coronary ostial atresia','Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.'),('HP:0031627','Globus pallidus calcification','Pathological deposition of calcium salts in the globus pallidus.'),('HP:0031628','Aborted sudden cardiac death','Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.'),('HP:0031629','Impaired tandem gait','Reduced ability to walk in a straight line while placing the feet heel to toe.'),('HP:0031630','Abnormal subpleural morphology','Any structural anomaly located between the pleura and the chest wall.'),('HP:0031631','Subpleural honeycombing','So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.'),('HP:0031632','Anomalous origin of the right subclavian artery from the descending aorta','Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.'),('HP:0031633','Isolation of the left subclavian artery','The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.'),('HP:0031634','Anomalous origin of the left common carotid artery from the main pulmonary artery','The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.'),('HP:0031635','Anomalous origin of the left common carotid artery from the brachiocephalic artery','The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.'),('HP:0031636','Anomalous origin of the right common carotid artery from the aorta','The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.'),('HP:0031637','Right coronary artery ostial atresia','Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.'),('HP:0031638','Anomalous origin of the left anterior descending artery from the pulmonary artery','The left anterior descending artery (LAD) branches off from the pulmonary artery.'),('HP:0031639','Absent left main coronary artery','The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.'),('HP:0031640','Abnormal radial artery morphology','Any structural anomaly of the radial artery.'),('HP:0031643','Fusiform ascending tubular aorta aneurysm','An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall.'),('HP:0031644','Fusiform abdominal aortic aneurysm','A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall'),('HP:0031645','Saccular abdominal aortic aneurysm','An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.'),('HP:0031646','Fusiform aortic arch aneurysm','A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.'),('HP:0031647','Saccular aortic arch aneurysm','An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.'),('HP:0031648','Penetrating aortic ulcer','A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.'),('HP:0031649','Aortic rupture','Tearing of the aortic wall generally associated with profuse internal bleeding.'),('HP:0031650','Abnormal atrioventricular valve physiology','Any functional defect of the mitral or tricuspid valve.'),('HP:0031651','Abnormal tricuspid valve physiology','Any functional defect of the tricuspid valve.'),('HP:0031652','Abnormal aortic valve physiology',''),('HP:0031653','Abnormal heart valve physiology','Any functional abnormality of a cardiac valve.'),('HP:0031654','Abnormal pulmonary valve physiology','Any functional anomaly of the pumonary valve.'),('HP:0031655','Quadricuspid aortic valve','The presence of an aortic valve with four instead of the normal three cusps (flaps).'),('HP:0031656','Systolic anterior motion of the mitral valve','Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.'),('HP:0031657','Abnormal heart sound','Any abnormal noise generated by the beating heart.'),('HP:0031658','Third heart sound','The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.'),('HP:0031659','Fourth heart sound',''),('HP:0031660','Loud first heart sound','Abnormally increased volume of the first heart sound.'),('HP:0031661','Abnormal second heart sound','Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.'),('HP:0031662','Fixed splitting of the second heart sound','Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.'),('HP:0031663','Paradoxical splitting of the second heart sound','Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).'),('HP:0031664','Systolic heart murmur','A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.'),('HP:0031665','Midsystolic murmur','A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.'),('HP:0031666','Late systolic murmur','A murmur that occurs in the latter phase of systole.'),('HP:0031667','Holosystolic murmur','A heart murmur that occurs during the entire systolic phase from S1 to S2.'),('HP:0031668','Diastolic heart murmur','A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.'),('HP:0031669','Middiastolic murmur','A murmur that occurs in the middle of the diastolic phase.'),('HP:0031670','Continuous heart murmur','A murmur that occurs in both systole and diastole.'),('HP:0031671','Typical atrial flutter','Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient`s previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.'),('HP:0031672','Reverse typical atrial flutter','A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.'),('HP:0031673','Orthodromic atrioventricular reentrant tachycardia','A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.'),('HP:0031674','Antidromic atrioventricular reentrant tachycardia','A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.'),('HP:0031675','Fascicular left ventricular tachycardia','A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).'),('HP:0031676','Monomorphic ventricular tachycardia','A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).'),('HP:0031677','Polymorphic ventricular tachycardia','A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).'),('HP:0031678','Atherosclerotic lesion','A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.'),('HP:0031679','Type I atherosclerotic lesion','Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).'),('HP:0031680','Type II atherosclerotic lesion','Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.'),('HP:0031681','Type III atherosclerotic lesion','Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.'),('HP:0031682','Type V atherosclerotic lesion','Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.'),('HP:0031683','Type VI atherosclerotic lesion','Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.'),('HP:0031684','Renal artery atherosclerosis','An atherosclerotic lesion located in the renal artery.'),('HP:0031685','Abnormal stool composition',''),('HP:0031686','Increased stool alpha1-antitrypsin concentration','An abnormally elevated amount of alpha1-antitrypsin in the feces.'),('HP:0031687','Abnormally loud pulmonic component of the second heart sound',''),('HP:0031688','Erythroid dysplasia','Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.'),('HP:0031689','Megakaryocyte dysplasia','The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.'),('HP:0031690','Opportunistic infection','An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.'),('HP:0031691','Severe viral infection','An unusually severe viral infection.'),('HP:0031692','Severe cytomegalovirus infection','An unusually severe infection by cytomegalovirus.'),('HP:0031693','Severe Epstein Barr virus infection','An unusually severe Epstein Barr virus (EBV) infection.'),('HP:0031694','Severe adenovirus infection','An unusually severe adenovirus infection.'),('HP:0031695','Severe parainfluenza infection','An unusually severe infection by a parainfluenza virus.'),('HP:0031696','Disseminated viral infection','A viral infection that fails to be contained by the immune sytem and spreads throughout the body.'),('HP:0031697','Disseminated infection with live vaccine virus','A dissemination viral infection caused by a live attenuated vaccine virus.'),('HP:0031698','Disseminated Bacillus Calmette-Guerin infection','Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.'),('HP:0031699','Disseminated cryptosporidium infection','Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.'),('HP:0031700','Invasive parasitic infection','A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.'),('HP:0031701','Anterior chamber inflammatory cells','The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.'),('HP:0031702','Anterior chamber red blood cells','The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.'),('HP:0031703','Abnormal ear morphology','Any structural anomaly of the ear.'),('HP:0031704','Abnormal ear physiology','Any functional anomaly of the ear.'),('HP:0031705','Compensatory head posture','A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.'),('HP:0031706','Compensatory chin depression','A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.'),('HP:0031707','Compensatory face turn to the right','A tendency to turn the face to the right to compensate for a limitation of eye movement.'),('HP:0031708','Compensatory face turn to the left','A tendency to turn the face to the left to compensate for a limitation of eye movement.'),('HP:0031709','Compensatory head tilt to the right shoulder','A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.'),('HP:0031710','Compensatory head tilt to the left shoulder','A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.'),('HP:0031711','Asymmetric abdominal aortic aneurysm','An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).'),('HP:0031713','Constant exotropia','A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.'),('HP:0031714','Distance exotropia','A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.'),('HP:0031715','Near exotropia','An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).'),('HP:0031716','Cyclic exotropia','A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.'),('HP:0031717','Alternating exotropia','A type of exotropia in which either eye may be used for fixation.'),('HP:0031718','Consecutive exotropia','Exotropia in an individual who has previously had esotropia or esophoria.'),('HP:0031719','True distance exotropia','Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.'),('HP:0031720','Simulated distance exotropia','Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.'),('HP:0031721','Sensory exotropia','A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.'),('HP:0031722','Near esotropia','An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.'),('HP:0031723','Secondary esotropia','Convergent squint which follows loss or impairment of vision.'),('HP:0031724','Microtropia','A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.'),('HP:0031725','Hypophoria','A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.'),('HP:0031726','Incyclotropia','A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.'),('HP:0031727','Excyclotropia','A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.'),('HP:0031728','Mild hypermetropia','A form of hypermetropia with not more than +2.00 diopters.'),('HP:0031729','Moderate hypermetropia','A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.'),('HP:0031730','Axial myopia','A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.'),('HP:0031731','Increased tear production','Increased lacrimation owing to overproduction of tears.'),('HP:0031732','Increased basal tear production','A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.'),('HP:0031733','Reflex tearing','A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).'),('HP:0031734','Lacrimal pump failure','A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.'),('HP:0031736','Involutional entropion','An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.'),('HP:0031737','Cicatricial entropion','Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.'),('HP:0031738','Mechanical entropion','A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.'),('HP:0031739','Abnormal oblique muscle physiology','A functional anomaly of the inferior or superior oblique muscle.'),('HP:0031740','Abnormal horizontal rectus muscle physiology','A functional anomaly of the medial rectus muscle or lateral rectus muscle.'),('HP:0031741','Inferior oblique muscle underaction','Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031742','Inferior rectus muscle underaction','Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031743','Inferior rectus muscle overaction','Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031744','Superior rectus muscle weakness','Decreased strength of the superior rectus muscle.'),('HP:0031745','Superior rectus muscle overaction','Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031746','Superior rectus muscle restriction','Mechanical limitation of the range of movement of the superior rectus muscle.'),('HP:0031747','Superior rectus muscle underaction','Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031748','Abnormal vertical rectus muscle physiology','A functional anomaly of the superior or inferior rectus muscle.'),('HP:0031749','Abnormal lateral rectus muscle physiology','A functional anomaly of the lateral rectus muscle.'),('HP:0031750','Lateral rectus muscle weakness','Decreased strength (ability to move) of the lateral rectus muscle.'),('HP:0031751','Lateral rectus muscle underaction','Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031752','Lateral rectus muscle overaction','Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031753','Medial rectus muscle weakness','Decreased strength of the medial rectus muscle.'),('HP:0031754','Medial rectus muscle overaction','Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031755','Abnormal rectus muscle physiology','A functional anomaly of a vertical or horizontal rectus muscle.'),('HP:0031756','Medial rectus muscle underaction','Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031757','Medial rectus muscle restriction','Mechanical limitation of the range of movement of the medial rectus muscle.'),('HP:0031758','Lateral rectus muscle restriction','Mechanical limitation of the range of movement of the lateral rectus muscle.'),('HP:0031759','Basic constant esotropia','A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).'),('HP:0031760','Non-accomodative esotropia','A form of esotropia in which the angle of deviation is not affected by accommodative effort.'),('HP:0031761','Infantile constant esotropia','Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.'),('HP:0031762','Distance esotropia','An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.'),('HP:0031763','Cyclic esotropia','Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.'),('HP:0031764','Fully accomodative esotropia','Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.'),('HP:0031765','Partially accomodative esotropia','A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.'),('HP:0031766','Convergence excess esotropia','An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.'),('HP:0031767','Consecutive esotropia','Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.'),('HP:0031768','Parafoveal fixation','Fixation of an object in the area adjacent to the fovea.'),('HP:0031769','Peripheral fixation','Fixation of an object in a peripheral area of the retina.'),('HP:0031770','Epicanthus palpebralis','A type of epicanthus in which a medial vertical fold is present between upper and lower lids.'),('HP:0031771','Epicanthus tarsalis','A type of epicanthus in which a primarily upper lid fold is present.'),('HP:0031772','Abnormal posterior circulating artery morphology','Any structural anomaly of the posterior circulating artery (PCOM).'),('HP:0031773','Posterior communicating artery aneurysm','A widening (ballooning) localized in the wall of the posterior communicating artery.'),('HP:0031774','Posterior communicating artery infundibulum','A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.'),('HP:0031775','Neurogenic strabismus','An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.'),('HP:0031776','Cyclotropia','A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).'),('HP:0031777','Cyclophoria','A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.'),('HP:0031778','Incyclophoria','A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.'),('HP:0031779','Excyclophoria','A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.'),('HP:0031780','Eosinophilic ascites','A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.'),('HP:0031781','Microtropia with identity','A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.'),('HP:0031782','Microtropia without identity','A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.'),('HP:0031783','Absent coronary sinus','A developmental defect in which the coronary sinus fails to form.'),('HP:0031784','Abnormal ascending aorta morphology','Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.'),('HP:0031785','Abnormal eyelid movement','An abnormality in voluntary or involuntary eyelid movements or their control.'),('HP:0031786','Cogan lid twitch','Transient eyelid retraction during refixation from down to straight ahead.'),('HP:0031787','Oblique astigmatism','Astigmatism in which the refractive power of the vertical meridian is the greatest.'),('HP:0031788','With the rule astigmatism','Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).'),('HP:0031789','Against the rule astigmatism','Astigmatism with more plus power on the horizontal meridian.'),('HP:0031790','Mixed astigmatism','A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).'),('HP:0031791','Lenticular astigmatism','A type of astigmatism related to an irregular shape of the lens.'),('HP:0031792','Irregular astigmatism','A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.'),('HP:0031793','Increased serum leptin','An increased concentration of leptin in the blood.'),('HP:0031794','Decreased circulating glycerol level','A decrease below the normal concentration of glycerol in the blood.'),('HP:0031795','Abnormal circulating glycerol level','Any deviation from the normal concentration of glycerol in the blood.'),('HP:0031796','Recurrent','Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.'),('HP:0031797','Clinical course','The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.'),('HP:0031798','Elevated apolipoprotein B level','Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.'),('HP:0031799','Decreased apolipoprotein AI level','Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.'),('HP:0031800','Elevated apolipoprotein A-II level','An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.'),('HP:0031801','Vocal cord dysfunction','Any functional anomaly of the vocal cord.'),('HP:0031803','Fundus hemorrhage','Bleeding within the fundus of the eye.'),('HP:0031804','Premacular hemorrhage',''),('HP:0031805','Intraretinal hemorrhage','A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be `dot` or` blot` shaped or flame shaped depending upon their depth within the retina.'),('HP:0031806','Abnormal basophil count','Any deviation from the normal number of basophils per volume in the blood circulation.'),('HP:0031807','Increased basophil count','An abnormally increased count of basophils per volume in the blood circulation.'),('HP:0031808','Decreased basophil count','An abnormally reduced count of basophils per volume in the blood circulation.'),('HP:0031809','Archibald`s sign','Shortening of the fourth and fifth metacarpals when the fist is clenched.'),('HP:0031810','Anti-ganglioside antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.'),('HP:0031811','Bilirubinuria','Presence of conjugated bilirubin in the urine.'),('HP:0031812','Nitrituria','Presence of nitrites in the urine.'),('HP:0031813','Colonic eosinophilia','An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.'),('HP:0031814','Palilalia','Repetition of one`s own words or phrases.'),('HP:0031815','Abnormal oral physiology','A functional anomaly of the mouth (which is also known as the oral cavity).'),('HP:0031816','Abnormal oral morphology','Any structural anomaly of the mouth, which is also known as the oral cavity.'),('HP:0031817','Decreased circulating parathyroid hormone level','An abnormally decreased concentration of parathyroid hormone.'),('HP:0031818','Abnormal waist to hip ratio','A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.'),('HP:0031819','Increased waist to hip ratio','Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.'),('HP:0031820','Decreased waist to hip ratio','Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.'),('HP:0031821','Abnormal hypoxanthine-guanine phosphoribosyltransferase level','Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.'),('HP:0031822','Elevated hypoxanthine-guanine phosphoribosyltransferase level','Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.'),('HP:0031823','Reduced hypoxanthine-guanine phosphoribosyltransferase level','Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.'),('HP:0031824','Hepatic mastocytosis','Liver mast cell infiltration.'),('HP:0031825','Freezing of gait','Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.'),('HP:0031826','Abnormal reflex','Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).'),('HP:0031827','Absent abdominal reflex','Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.'),('HP:0031828','Abnormal superficial reflex','An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.'),('HP:0031829','Absent cremaster reflex','Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.'),('HP:0031830','Pinguecula','A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.'),('HP:0031831','Decreased serum zinc','A reduced concentration of zinc in the blood.'),('HP:0031832','Hypermetric downward saccades','Overshoot of downward saccadic eye movements.'),('HP:0031833','Hypometric upward saccades','Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.'),('HP:0031834','Aortopulmonary collateral arteries','Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.'),('HP:0031835','Abnormal superoxide dismutase level','An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.'),('HP:0031836','Increased superoxide dismutase level','Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.'),('HP:0031837','Decreased superoxide dismutase level','Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.'),('HP:0031838','Presence of xenobiotic','Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.'),('HP:0031840','Urine xenobiotic','The presence of a xenobiotic in urine.'),('HP:0031841','Positive urine methadone test','Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.'),('HP:0031842','Lymphangiectasis','Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.'),('HP:0031843','Bradyphrenia','Abnormal slowness of thought processes.'),('HP:0031844','Euphoria','A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.'),('HP:0031845','Abnormal libido','Any deviation from the normal sexual drive or desire for sexual activity.'),('HP:0031846','Femur fracture','A break or crush injury of the thigh bone (femur).'),('HP:0031847','Difficulty walking backward','Reduced ability to walk (ambulate) in a backwards direction.'),('HP:0031848','Cock-walk gait','An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.'),('HP:0031849','Sleep-wake inversion','A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.'),('HP:0031850','Abnormal hematocrit','Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.'),('HP:0031851','Reduced hematocrit','A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.'),('HP:0031853','Isomerism','Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.'),('HP:0031854','Left Isomerism','A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.'),('HP:0031855','Right isomerism','A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.'),('HP:0031856','Hobby horse gait','An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.'),('HP:0031857','Ineffective esophageal peristalsis','Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.'),('HP:0031858','Esophageal furrows','Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).'),('HP:0031860','Abnormal heart rate variability','Any abnormality in the variability of the time interval between successive heartbeats.'),('HP:0031861','Decreased heart rate variability','Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.'),('HP:0031862','Increased heart rate variability','Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.'),('HP:0031863','Bloodstream infectious agent','The presence of an infectious agent in the blood circulation.'),('HP:0031864','Bacteremia','Presence of viable bacteria in the blood.'),('HP:0031865','Abnormal liver physiology','Any functional anomaly of the liver.'),('HP:0031866','Clasp-knife sign','Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.'),('HP:0031867','Neck hypertonia','Increased passive stiffness or tightness of the neck musculature.'),('HP:0031868','Optic ataxia','Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.'),('HP:0031869','Recurrent joint dislocation','Dislocation of a given joint repeated times.'),('HP:0031870','Phosphohydroxylysinuria','An elevated concentration of phosphohydroxylysine in the urine.'),('HP:0031871','Abnormal Langerhans cell morphology','Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.'),('HP:0031872','Absent Birbeck granules in Langerhans cells','Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.'),('HP:0031873','Early chronotype','A tendency towards rising very early in the morning and going to bed early in the evening.'),('HP:0031874','Late chronotype','A tendency towards rising very late in the morning and going to bed late at night.'),('HP:0031875','Abnormal hepcidin level','Any deviation from the normal concentration of hepcidin in the blood circulation.'),('HP:0031876','Decreased hepcidin level','An abnormally reduced concentration of hepcidin in the blood circulation.'),('HP:0031877','Elevated hepcidin level','An abnormally increased concentration of hepcidin in the blood circulation.'),('HP:0031878','Acromicria','Small hands and feet in proportion to the rest of the body.'),('HP:0031879','Abnormal eyelid physiology','Any functional abnormality of the eyelid.'),('HP:0031880','Eyelid laxity','Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.'),('HP:0031881','Decreased tear drainage','A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.'),('HP:0031882','Agyria','A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.'),('HP:0031883','Increased proinsulin:insulin ratio','An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.'),('HP:0031884','Abnormal CSF glucose level','A deviation from normal concentration of glucose content in the cerebrospinal fluid.'),('HP:0031885','Hyperglycorrhachia','Abnormally high glucose concentration in the cerebrospinal fluid.'),('HP:0031886','Abnormal LDL cholesterol concentration','Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.'),('HP:0031887','Abnormal chylomicron concentration','Any deviation from the normal circulating concentration of chylomicrons.'),('HP:0031888','Abnormal HDL cholesterol concentration','Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.'),('HP:0031889','Abnormal VLDL cholesterol concentration','Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.'),('HP:0031890','Increased urine urobilinogen','An elevated concentration of urobilinogen in the urine.'),('HP:0031891','Decreased eosinophil count','Abnormal reduction in the count of eosinophils in the blood per volume.'),('HP:0031898','Rouleaux formation','Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.'),('HP:0031899','Abnormal coagulation factor V activity','Any deviation from the activity of coagulation factor V.'),('HP:0031900','Abnormal serum mast cell beta-tryptase concentration','Any deviation from the normal circulating concentration of mast cell beta-tryptase concentration.'),('HP:0031901','Increased serum mast cell beta-tryptase concentration','An abnormally elevated circulating concentration of mast cell beta-tryptase concentration.'),('HP:0031902','Decreased serum mast cell beta-tryptase concentration','An abnormally reduced circulating concentration of mast cell beta-tryptase concentration.'),('HP:0031903','Abnormal circulating selenium concentration','Any deviation from the normal circulating concentration of selenium.'),('HP:0031904','Abnormal total hemolytic complement activity','Any deviation from the normal total hemolytic complement activity in the circulation.'),('HP:0031905','Increased total hemolytic complement activity','An abnormally elevated total hemolytic complement activity in the circulation.'),('HP:0031906','Decreased total hemolytic complement activity','An abnormally reduced total hemolytic complement activity in the circulation.'),('HP:0031907','Anti-mitochondrial M2 antibody positivity','The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.'),('HP:0031908','Micrographia','Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.'),('HP:0031909','Unicornuate uterus','A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.'),('HP:0031910','Abnormal cranial nerve physiology','A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.'),('HP:0031911','Abnormal fifth cranial nerve physiology',''),('HP:0031912','Trigeminal anesthesia','Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.'),('HP:0031913','Rhombencephalosynapsis','Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.'),('HP:0031914','Fluctuating','Varying irregularly over time in severity, amount, or amplitude.'),('HP:0031915','Stable','This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.'),('HP:0031917','Digital ulcer','An open sore on the surface of the skin of a finger or toe.'),('HP:0031918','Ovarian sex cord-stromal tumor','A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.'),('HP:0031919','Juvenile type ovarian granulosa cell tumor','Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.'),('HP:0031920','Malignant ovarian granulosa cell tumor','An aggressive granulosa cell tumor that arises from the ovary.'),('HP:0031921','Gastrocnemius myalgia','Pain of the gastrocnemius muscle.'),('HP:0031922','Renal artery duplication','The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.'),('HP:0031923','Hematocolpos','Accumulation of blood in the vagina usually due to vaginal obstruction.'),('HP:0031924','Rope sign','The presence of linear erythematous palpable cords, often on the lateral trunk.'),('HP:0031925','Rosette','A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.'),('HP:0031926','Homer Wright rosette','A type of rosette in which the central lumen or hub is filled with fiber-like processes.'),('HP:0031927','Flexner-Wintersteiner rosette','The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.'),('HP:0031928','True ependymal rosette','A type of rosette in which a halo of cells surrounds an empty lumen.'),('HP:0031929','Perivascular pseudorosette','A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.'),('HP:0031930','Neurocytic rosette','A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.'),('HP:0031931','Ocular flutter','Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.'),('HP:0031932','Aorto-left ventricular tunnel','Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity.'),('HP:0031933','Aorto-right ventricular tunnel','The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.'),('HP:0031934','Abnormal descending aorta morphology','A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.'),('HP:0031935','Ascending aorta hypoplasia','Significant luminal narrowing of a long segment of or the entire ascending aorta.'),('HP:0031936','Delayed ability to walk','A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.'),('HP:0031937','Tachylalia','Extreme rapidity of speech.'),('HP:0031938','Abnormal conus terminalis morphology','Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).'),('HP:0031939','Conus terminalis arteriovenous malformation',''),('HP:0031941','Abnormal portal venous system morphology','Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.'),('HP:0031942','Congenital absence of portal vein','Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.'),('HP:0031943','Akathisia','A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.'),('HP:0031944','Pleural thickening','An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.'),('HP:0031945','Elevated N,N-dimethylglycine level','An increased concentration of N,N-dimethylglycine in the circulation.'),('HP:0031946','Elevated urinary N,N-dimethylglycine level','An increased concentration of N,N-dimethylglycine in the urine.'),('HP:0031947','Tongue tremor','An unintentional, oscillating to-and-fro muscle movement affecting the tongue.'),('HP:0031948','Snowball lesion of corpus callosum','Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.'),('HP:0031949','Recurrent bacterial upper respiratory tract infections','An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).'),('HP:0031950','Usual interstitial pneumonia','Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.'),('HP:0031951','Nocturnal seizures','Seizures that occur while the affected individual is sleeping.'),('HP:0031952','Neurogenic claudication','Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.'),('HP:0031953','Cautious gait','Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient`s actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.'),('HP:0031954','Dystonic gait','Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.'),('HP:0031955','Antalgic gait','To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.'),('HP:0031956','Elevated serum aspartate aminotransferase','An abnormally high concentration in the circulation of aspartate aminotransferase (AST).'),('HP:0031957','Spastic hemiparetic gait','Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.'),('HP:0031958','Spastic paraparetic gait','A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.'),('HP:0031959','Leg dystonia','A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.'),('HP:0031960','Arm dystonia','A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.'),('HP:0031961','Abnormal serum anion gap','Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.'),('HP:0031962','Elevated serum anion gap','An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).'),('HP:0031963','Decreased serum anion gap','An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).'),('HP:0031964','Elevated serum alanine aminotransferase','An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.'),('HP:0031965','Increased RBC distribution width','Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.'),('HP:0031967','Cloudy urine','The appearance of the urine having visible material in suspension, i.e., appearing cloudy.'),('HP:0031969','Reduced blood urea nitrogen','An abnormally low concentration of urea nitrogen in the blood.'),('HP:0031970','Abnormal blood urea nitrogen concentration','Any deviation from the normal concentration of urea nitrogen in the blood.'),('HP:0031971','Subaortic ventricular septal bulge','A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.'),('HP:0031972','Presyncope','Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.'),('HP:0031973','Increased vertical cup-to-disc ratio','An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.'),('HP:0031974','Increased vertical cup-to-disc ratio - 0.6','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).'),('HP:0031975','Increased vertical cup-to-disc ratio - 0.7','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).'),('HP:0031976','Increased vertical cup-to-disc ratio - 0.8','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).'),('HP:0031977','Increased vertical cup-to-disc ratio - 0.9','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).'),('HP:0031978','Increased vertical cup-to-disc ratio - 1.0','Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).'),('HP:0031979','Abnormal urine carbohydrate level','Any deviation from the normal concentration of a carbohydrate in the urine.'),('HP:0031980','Abnormal urine carboxylic acid level','Any deviation from the normal concentration of a carboxylic acid in the urine.'),('HP:0031981','Elevated urine glycolate','An increased concentration of glycolate in the urine.'),('HP:0031982','Abnormal putamen morphology','Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.'),('HP:0031983','Abnormal pulmonary thoracic imaging finding','This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.'),('HP:0031984','Esophageal food impaction','A piece of food that has gotten stuck in the esophagus and prevents further swallowing.'),('HP:0031985','Esophageal exudate','An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.'),('HP:0031986','Polyminimyoclonus','Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.'),('HP:0031987','Diminished ability to concentrate','Being unable to focus one`s attention or mental effort on a particular object or activity.'),('HP:0031988','obsolete Muscle spasm',''),('HP:0031989','Perioral spasm','A sudden involuntary contraction of the musculature surrounding the mouth.'),('HP:0031990','Chvostek sign','A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.'),('HP:0031991','Increased urinary excretion of galactosyl hydroxylysine','An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.'),('HP:0031992','Apical hypertrophic cardiomyopathy','Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.'),('HP:0031993','Hoffmann sign','A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner`s hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.'),('HP:0031994','Bronchial breath sound','Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.'),('HP:0031995','Squawks','Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.'),('HP:0031996','Inspiratory crackles','Crackles that are heard during the inspiratory phase.'),('HP:0031997','Early inspiratory crackles','Crackles that appear at the beginning of inspiration and end before mid-inspiration.'),('HP:0031998','Late inspiratory crackles','Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.'),('HP:0031999','Expiratory crackles','Crackles that occur during expiration.'),('HP:0032000','Pleural rub','An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles'),('HP:0032001','Pink urine','An abnormal pink color of urine.'),('HP:0032002','Orange urine','An abnormal orange color of urine.'),('HP:0032003','Green urine','An abnormal green color of urine.'),('HP:0032004','Pruritus vulvae','A sensation of itching in the vulvar region.'),('HP:0032005','Hemidystonia','Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.'),('HP:0032006','Lip tremor','An unintentional, oscillating to-and-fro muscle movement affecting the lip.'),('HP:0032007','Maceration','A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.'),('HP:0032008','Pulmonary fat embolism','The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.'),('HP:0032009','Infantile constant exotropia','Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.'),('HP:0032010','Basic constant exotropia','Constant exotropia for near and distance, presenting after 6 months of age.'),('HP:0032011','Heterophoria','Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.'),('HP:0032012','Heterotropia','Manifest deviation of the visual axes not controlled by fusion.'),('HP:0032013','Hypermetric horizontal saccades','Overshoot of horizontal (sideways) saccadic eye movements.'),('HP:0032014','Dysmetric vertical saccades','Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.'),('HP:0032015','Dysmetric horizontal saccades','Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.'),('HP:0032016','Abnormal sputum','Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.'),('HP:0032017','Sputum eosinophilia','An increased proportion of eosinophils in sputum in the differentiated cell count.'),('HP:0032018','Multiple mononeuropathy','A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.'),('HP:0032019','Muscle eosinophilia','Eosinophil infiltration of skeletal muscle.'),('HP:0032020','Eosinophilic bladder infiltration','Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.'),('HP:0032021','Eosinophilic liver infiltration','Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.'),('HP:0032022','Eosinophilic dermal infiltration','Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.'),('HP:0032023','Eosinophilic gallbladder infiltration','Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.'),('HP:0032024','Ileal ulcer','An erosion of the mucous membrane in a portion of the ileum.'),('HP:0032025','Reduced serum alpha-1-antitrypsin','A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.'),('HP:0032026','Anetoderma','Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.'),('HP:0032027','Retinal dots','Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.'),('HP:0032028','Macular dots','Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.'),('HP:0032029','Floppy eyelid','Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.'),('HP:0032030','Lateral canthal tendon laxity','Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.'),('HP:0032031','Medial canthal tendon laxity','Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.'),('HP:0032032','Horizontal eyelid laxity','Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.'),('HP:0032033','Vertical eyelid laxity','Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.'),('HP:0032034','Upper eyelid laxity','Abnormally lax upper eyelid associated with tissue relaxation.'),('HP:0032035','Lower eyelid laxity','Abnormally lax lower eyelid associated with tissue relaxation.'),('HP:0032036','Abnormal contrast sensitivity','An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.'),('HP:0032037','Mildly reduced visual acuity','Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).'),('HP:0032039','Abnormality of the ocular adnexa','An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.'),('HP:0032040','Abnormal ocular adnexa physiology','A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.'),('HP:0032041','Vocal cord polyp','A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.'),('HP:0032043','Odynophagia','Pain experienced with swallowing.'),('HP:0032044','Decreased vigilance','A reduction in the ability to maintain sustained attention characterized by reduced alertness.'),('HP:0032045','Hypoplastic carotid canal','Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.'),('HP:0032046','Focal cortical dysplasia','A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.'),('HP:0032047','Focal cortical dysplasia type I','A type of focal cortical dysplasia that is characterized by abnormal cortical layering.'),('HP:0032048','Focal cortical dysplasia type Ia','A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.'),('HP:0032049','Focal cortical dysplasia type Ib','A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.'),('HP:0032050','Focal cortical dysplasia type Ic','A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.'),('HP:0032051','Focal cortical dysplasia type II','A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.'),('HP:0032052','Focal cortical dysplasia type IIa','A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.'),('HP:0032053','Focal cortical dysplasia type IIb','A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.'),('HP:0032054','Focal cortical dysplasia type III','A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.'),('HP:0032055','Focal cortical dysplasia type IIIa','A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon`s horn sclerosis).'),('HP:0032056','Focal cortical dysplasia type IIIb','A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.'),('HP:0032057','Focal cortical dysplasia type IIIc','A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).'),('HP:0032058','Focal cortical dysplasia type IIId','A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.'),('HP:0032059','Mild malformation of cortical development','A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.'),('HP:0032060','Epithelioid hemangioma','A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.'),('HP:0032061','Hypereosinophilia','A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter).'),('HP:0032062','Mallory-Weiss tear','Vomiting-induced mucosal laceration at the esophago-gastric junction.'),('HP:0032063','Ankle joint effusion','Abnormal accumulation of fluid in or around the ankle joint.'),('HP:0032064','Gastrointestinal eosinophilia','Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.'),('HP:0032065','Abnormal serum bicarbonate concentration','Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.'),('HP:0032066','Decreased serum bicarbonate concentration','An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.'),('HP:0032067','Elevated serum bicarbonate concentration','An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.'),('HP:0032068','Increased urinary mucus','An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.'),('HP:0032069','Anti-thyroglobulin antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.'),('HP:0032070','Leptomeningeal enhancement','Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.'),('HP:0032071','Pulmonary eosinophilic infiltration','The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.'),('HP:0032072','Popliteal synovial cyst','A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.'),('HP:0032073','Aplasia of the fallopian tube','Aplasia, that is failure to develop, of the fallopian tube.'),('HP:0032075','Splenopancreatic fusion','Fusion of the pancreatic tail and spleen.'),('HP:0032076','Abnormal male urethral meatus morphology',''),('HP:0032077','Male urethral meatus stenosis','An abnormal narrowing of the urethral opening (meatus) of the penis.'),('HP:0032078','Angel-shaped phalanx','A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).'),('HP:0032079','Medial degeneration','Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.'),('HP:0032081','Intralamellar mucoid extracellular matrix accumulation','A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.'),('HP:0032082','Translamellar mucoid extracellular matrix accumulation','A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.'),('HP:0032083','Aortic elastic fiber fragmentation','Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.'),('HP:0032084','Aortic elastic fiber thinning','A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.'),('HP:0032085','Aortic elastic fiber disorganization','Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.'),('HP:0032086','Aortic smooth muscle cell nuclei loss','A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.'),('HP:0032087','Aortic laminar medial collapse','Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.'),('HP:0032088','Aortic smooth muscle cell disorganization','Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.'),('HP:0032089','Aortic medial fibrosis','An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).'),('HP:0032090','Intralamellar aortic medial fibrosis','A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.'),('HP:0032091','Translamellar aortic medial fibrosis','A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.'),('HP:0032092','Left ventricular outflow tract obstruction','Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.'),('HP:0032094','Increased circulating surfactant protein level','An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.'),('HP:0032096','Abnormal manganese concentration','A deviation from the normal range of manganese in the blood circulation.'),('HP:0032097','Hypermanganesemia','An elevation above the normal concentration of manganese in the blood.'),('HP:0032098','Hypomanganesemia',''),('HP:0032099','Perioral radial furrowing','The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).'),('HP:0032100','Abnormal doll`s eye reflex','The doll`s eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.'),('HP:0032101','Unusual infection','A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.'),('HP:0032102','Wilson sign','Wilson sign is defined as the elicitation of pain by internally rotating the patient`s tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.'),('HP:0032104','Saccadic oscillation','An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.'),('HP:0032105','Macrosaccadic oscillations','A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.'),('HP:0032106','Conjunctival icterus','Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.'),('HP:0032107','Limbal stem cell deficiency','A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.'),('HP:0032108','Mildly reduced contrast sensitivity','A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.'),('HP:0032109','Moderately reduced contrast sensitivity','A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.'),('HP:0032110','Severely reduced contrast sensitivity','A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.'),('HP:0032111','Abnormal Vistech contrast sensitivity test','An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.'),('HP:0032112','Abnormal Pelli Robson contrast sensitivity chart test','An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.'),('HP:0032113','Semidominant mode of inheritance','A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected.'),('HP:0032114','Saccadic intrusion','An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.'),('HP:0032116','Macrosquare-wave jerks','Horizontal 10-40 degree excursions from fixation and back again.'),('HP:0032117','obsolete Macrosaccadic oscillation',''),('HP:0032118','Retinitis','Inflammation of the retina of the eye.'),('HP:0032119','Narrow angle glaucoma','A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.'),('HP:0032120','Abnormal peripheral nervous system physiology','Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.'),('HP:0032121','Froment sign','An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.'),('HP:0032122','Very low visual acuity','A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).'),('HP:0032123','Ultra-low vision','Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).'),('HP:0032124','Abnormal proportion of unswitched memory B cells','A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.'),('HP:0032125','Increased proportion of unswitched memory B cells','An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.'),('HP:0032126','Decreased proportion of unswitched memory B cells','A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.'),('HP:0032127','Abnormal plasmablast proportion','A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.'),('HP:0032128','Increased proportion of plasmablasts','An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.'),('HP:0032129','Decreased proportion of plasmablasts','A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.'),('HP:0032130','Mycobacterium abscessus abscessus infection','Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.'),('HP:0032131','Cervical dysplasia','Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.'),('HP:0032132','Decreased circulating total IgG','A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.'),('HP:0032133','Transient decreased circulating total IgG','A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.'),('HP:0032134','Chronic decreased circulating total IgG','A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.'),('HP:0032135','Decreased circulating IgG subclass level','A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.'),('HP:0032136','Decreased circulating IgG1 level','A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.'),('HP:0032137','Decreased circulating IgG3 level','A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.'),('HP:0032138','Decreased circulating IgG4 level','A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.'),('HP:0032139','Reduced isohemagglutinin level','Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).'),('HP:0032140','Decreased specific antibody response to vaccination','A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0032141','Precordial pain','A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.'),('HP:0032142','Fetor hepaticus','Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.'),('HP:0032143','Burning mouth','An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.'),('HP:0032144','Coffee ground vomitus','Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.'),('HP:0032145','Sural nerve atrophy','Wasting of the sural nerve, a sensory nerve in the calf region of the leg.'),('HP:0032146','HbC hemoglobin','Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.'),('HP:0032147','Erythromelalgia','Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.'),('HP:0032148','Episodic pain','Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.'),('HP:0032149','Breakthrough pain','A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.'),('HP:0032150','Paroxysmal rectal pain','Excruciating burning pain in the rectal area that may be triggered by defecation.'),('HP:0032151','Episodic eosinophilia','Recurrent episodes of marked eosinophilia that resolve spontaneously.'),('HP:0032152','Keratosis pilaris','An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.'),('HP:0032153','Joint subluxation','A partial dislocation of a joint.'),('HP:0032154','Aphthous ulcer','Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.'),('HP:0032155','Abdominal cramps','A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.'),('HP:0032156','Skin detachment','Loss of sections of skin either spontaneously or after gentle handling.'),('HP:0032157','Recurrent genital herpes','Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.'),('HP:0032158','Unusual infection by anatomical site','An unusual infection classified by the affected body part.'),('HP:0032159','Fungal meningitis','An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.'),('HP:0032160','Cryptococcal meningitis','A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.'),('HP:0032161','Coccidioidal meningitis','A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.'),('HP:0032162','Unusual skin infection','A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.'),('HP:0032163','Molluscum contagiosum','Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.'),('HP:0032164','Increased blood folate concentration',''),('HP:0032165','Placental mesenchymal dysplasia','Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees.'),('HP:0032166','Unusual gastrointestinal infection',''),('HP:0032167','Clostridium difficile enteritis','An infection of the small intestine (enteritis) by clostridium difficile.'),('HP:0032168','Clostridium difficile colitis','An infection of the colon (colitis) by clostridium difficile.'),('HP:0032169','Severe infection','A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.'),('HP:0032170','Severe varicella zoster infection','An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.'),('HP:0032171','Bladder pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.'),('HP:0032172','Air crescent sign','A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.'),('HP:0032173','Continuous diaphragm sign','This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.'),('HP:0032174','Tree-in-bud pattern','The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).'),('HP:0032175','Signet ring sign','This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.'),('HP:0032176','Apical pulmonary opacity','An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.'),('HP:0032177','Parenchymal consolidation','Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).'),('HP:0032178','Flaky paint dermatosis','A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).'),('HP:0032179','Abnormal circulating globulin level','An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.'),('HP:0032180','Abnormal circulating metabolite concentration','An abnormal level of an analyte measured in the blood.'),('HP:0032181','Anomalous hepatic venous drainage into the left atrium','An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.'),('HP:0032182','Abnormal proportion of memory T cells','An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.'),('HP:0032183','Decreased proportion of memory T cells','An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.'),('HP:0032184','Increased proportion of memory T cells','An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.'),('HP:0032185','Disseminated molluscum contagiosum','The presense of molluscum contagiosum lesions across multiple areas of the body.'),('HP:0032186','Anal neoplasm','A benign or malignant neoplasm that affects the anal canal or anal margin.'),('HP:0032187','Anal intraepithelial neoplasia','Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.'),('HP:0032188','Cellular hypersensitivity to mitomycin C','An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.'),('HP:0032189','Cellular hypersensitivity to diepoxybutane','An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.'),('HP:0032190','Abnormal meniscus morphology','Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.'),('HP:0032191','Torn meniscus','A tear in the cartilaginous pad (meniscus) of the knee.'),('HP:0032192','Hydatidiform mole','Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.'),('HP:0032193','Decreased low-density lipoprotein particle size','An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.'),('HP:0032195','Abnormal S wave','Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.'),('HP:0032196','Prominent S wave in lead I','Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.'),('HP:0032197','Deep S wave in lead V5','Abnormal depth of the S wave in lead V5 of the electrocardiogram.'),('HP:0032198','Decreased prothrombin time','Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient`s prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.'),('HP:0032199','Abnormal prothrombin time','Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient`s prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.'),('HP:0032200','Perivascular fibrosis','The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.'),('HP:0032201','Rotator cuff tear','The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.'),('HP:0032202','Vulvar intraepithelial neoplasia','Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.'),('HP:0032203','Lymphoid nodular hyperplasia','Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).'),('HP:0032204','Chronic active Epstein-Barr virus infection','Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.'),('HP:0032205','Increased circulating galectin-3 level','Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling.'),('HP:0032207','Abnormal cerebrospinal fluid metabolite concentration','Any deviation from the normal concentration of a metabolite in cerebrospinal fluid.'),('HP:0032208','Increased urinary type 1 collagen N-terminal telopeptide level','An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.'),('HP:0032209','Abnormal circulating free T3 concentration','A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.'),('HP:0032210','Decreased circulating free T3','A reduced concentration of free 3,3`,5-triiodo-L-thyronine in the blood circulation.'),('HP:0032211','Increased urinary epithelial cell count','An increased number of epithelial cells per high-power field in urinanalysis.'),('HP:0032212','Increased urinary squamous epithelial cell count','An increased number of squamous epithelial cells per high-power field in urinanalysis.'),('HP:0032213','Increased urinary renal tubular epithelial cell count','An increased number of renal tubular epithelial cells per high-power field in urinanalysis.'),('HP:0032214','Increased urinary transitional epithelial cell count','An increased number of transitional epithelial cells per high-power field in urinanalysis.'),('HP:0032215','Disseminated cutaneous warts','Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.'),('HP:0032216','Lymphocytic infiltration of the colorectal mucosa','Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.'),('HP:0032217','Indurated nodule','A skin nodule that is unusually hard (indurated).'),('HP:0032218','Decreased proportion of CD4-positive T cells','A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.'),('HP:0032219','Increased proportion of CD4-positive T cells','An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.'),('HP:0032220','Interface hepatitis','Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.'),('HP:0032221','Periportal emperipolesis','The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.'),('HP:0032222','Serrated intestinal polyps','The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.'),('HP:0032223','Blood group','Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.'),('HP:0032224','ABO blood group','The ABO system consists of A and B antigens and antibodies against these antigens.'),('HP:0032225','Perifollicular fibroma','Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.'),('HP:0032226','Abnormal sebaceous gland morphology','Any structural anomaly of the sebaceous glands.'),('HP:0032227','Sebaceous hyperplasia','A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.'),('HP:0032228','Trichodiscoma','A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.'),('HP:0032229','Perinuclear antineutrophil antibody positivity','The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.'),('HP:0032230','Cytoplasmic antineutrophil antibody positivity','The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.'),('HP:0032231','Hypochromia','A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.'),('HP:0032232','Increased circulating creatine kinase MB isoform','An increased concentration of the MB isoform of creatine kinase in the blood circulation.'),('HP:0032233','Increased circulating creatine kinase BB isoform','An increased concentration of the BB isoform of creatine kinase in the blood circulation.'),('HP:0032234','Increased circulating creatine kinase MM isoform','An increased concentration of the MM isoform of creatine kinase in the blood circulation.'),('HP:0032235','Anti-La/SSA antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the La/Sjogrens syndrome antigen.'),('HP:0032236','Increased circulating immature neutrophil count','An abnormally increased number of immature neutrophils in the peripheral blood circulation.'),('HP:0032237','Increased circulating myelocyte count','An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.'),('HP:0032238','Increased circulating metamyelocyte count','An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.'),('HP:0032239','Increased circulating band cell count','An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2.'),('HP:0032240','Elevated circulating E selectin level','An increased concentration of E selectin in the blood circulation.'),('HP:0032241','Cervical neoplasm','A tumor (abnormal growth of tissue) of the uterine cervix.'),('HP:0032242','Cervical intraepithelial neoplasia','A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.'),('HP:0032243','Abnormal tissue metabolite concentration','Any deviation from the normal concentration of a metabolite in a tissue.'),('HP:0032244','Decreased serum thromboxane B2','A reduction in the concentration of thromboxane B2 in the blood circulation.'),('HP:0032245','Abnormal metabolism','An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.'),('HP:0032247','Persistent CMV viremia','Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.'),('HP:0032248','Persistent viremia','Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.'),('HP:0032249','Coccidioidomycosis','Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.'),('HP:0032250','Acinetobacter infection','An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.'),('HP:0032251','Abnormal immune system morphology',''),('HP:0032252','Granuloma','A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.'),('HP:0032253','Eosinophilic granuloma','A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.'),('HP:0032254','Increased circulating copper concentration','An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.'),('HP:0032255','Opportunistic fungal infection','An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.'),('HP:0032256','Histoplasmosis','Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.'),('HP:0032257','Disseminated histoplasmosis','Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.'),('HP:0032258','Pulmonary histoplasmosis','Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.'),('HP:0032259','Chronic tinea infection','The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.'),('HP:0032260','Opportunistic bacterial infection','An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.'),('HP:0032261','Nontuberculous mycobacterial pulmonary infection','An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.'),('HP:0032262','Pulmonary tuberculosis','A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.'),('HP:0032263','Increased blood pressure','Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.'),('HP:0032264','Anti-NMDA receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.'),('HP:0032265','CSF autoimmune antibody positivity','The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism`s own cells or tissues.'),('HP:0032266','CSF anti-NMDA receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.'),('HP:0032267','Empty delta sign','This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.'),('HP:0032268','Dural tail sign','This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.'),('HP:0032269','Lemon sign',''),('HP:0032270','Optic nerve tram-track sign','A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.'),('HP:0032271','Extrapulmonary tuberculosis','A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.'),('HP:0032272','Elevated urinary N-acetylaspartic acid level','Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.'),('HP:0032273','Increased circulating N-Acetylaspartic acid concentration','An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation.'),('HP:0032274','Increased CSF N-Acetylaspartic acid concentration','An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF).'),('HP:0032275','Recurrent shingles','Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.'),('HP:0032276','Prominent subcalcaneal fat pad','Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.'),('HP:0032277','Lozenge-shaped umbilicus',''),('HP:0032278','2-hydroxyglutarate aciduria','An increase in the level of 2-hydroxyglutaric acid in the urine.'),('HP:0032281','Abnormal base excess','Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).'),('HP:0032282','Contact dermatitis','An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.'),('HP:0032283','Disseminated nontuberculous mycobacterial infection','An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.'),('HP:0032284','Ultra-low vision with retained motion projection','Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).'),('HP:0032285','Ultra-low vision with retained light projection','Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.'),('HP:0032286','Ultra-low vision with retained light perception','Ultra-low vision but with retained ability to perceive the difference between light and dark.'),('HP:0032287','Ultra-low vision with no light perception','Ultra-low vision with complete lack of light and form perception.'),('HP:0032288','Polyclonal elevation of circulating IgG','An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.'),('HP:0032289','Oligoclonal elevation of circulating IgG','An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032290','Monoclonal elevation of IgG','An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032291','Monoclonal elevation of intact IgG','A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.'),('HP:0032292','Monoclonal elevation of IgG light chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.'),('HP:0032293','Monoclonal elevation of IgG heavy chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.'),('HP:0032294','Monoclonal elevation of IgG kappa chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.'),('HP:0032295','Monoclonal elevation of IgG lambda chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.'),('HP:0032296','Increased circulating IgG subclass','An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.'),('HP:0032297','Increased circulating IgG3 level','An abnormally increased concentration of the IgG3 subtype in the blood circulation.'),('HP:0032298','Increased circulating IgG1 level','An abnormally increased concentration of the IgG1 subtype in the blood circulation.'),('HP:0032299','Increased circulating IgG2 level','An abnormally increased concentration of the IgG2 subtype in the blood circulation.'),('HP:0032300','Increased circulating IgG4 level','An abnormally increased concentration of the IgG4 subtype in the blood circulation.'),('HP:0032301','Genital warts','Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.'),('HP:0032302','Kappa Bence Jones proteinuria','The presence of free monoclonal kappa immunoglobulin light chains in the urine.'),('HP:0032303','Lambda Bence Jones proteinuria','The presence of free monoclonal lambda immunoglobulin light chains in the urine.'),('HP:0032304','Abnormal mannose-binding protein level','Any deviation from the normal concentration of mannose-binding protein in the blood circulation.'),('HP:0032305','Decreased mannose-binding protein level','An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation.'),('HP:0032306','Increased mannose-binding protein level','An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation.'),('HP:0032308','Increased circulating procalcitonin level','An elevated concentration of procalcitonin in the blood circulation.'),('HP:0032309','Abnormal granulocyte count','Any deviation from the normal cell count per volume of granulocytes in the blood circulation.'),('HP:0032310','Granulocytosis','An increased count of granulocytes in the peripheral blood circulation.'),('HP:0032311','Increased circulating globulin level','An abnormally elevated concentration of globulins in the blood.'),('HP:0032312','Decreased circulating globulin level','An abnormally reduced concentration of globulins in the blood.'),('HP:0032313','Frontotemporal hypertrichosis','Excessive, increased hair growth located in the region of the forehead and temple.'),('HP:0032314','Abnormal areolar morphology','An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.'),('HP:0032315','Areolar fullness','The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.'),('HP:0032316','Family history','Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.'),('HP:0032317','Family history of cancer','A close blood relative had cancer.'),('HP:0032318','Family history of heart disease','A close blood relative had heart disease.'),('HP:0032319','Health status','Health status of a family member with respect to the disease being investigated in a proband.'),('HP:0032320','Affected','This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).'),('HP:0032321','Unaffected','This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.'),('HP:0032322','Healthy','No history of any serious disease, including the disease being investigated in the proband.'),('HP:0032323','Periodic fever','Episodic fever that recurs at regular intervals.'),('HP:0032324','Non-periodic recurrent fever','Episodic fever that recurs at irregular intervals.'),('HP:0032325','Lacunar stroke','A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.'),('HP:0032326','Methicillin-resistant Staphylococcus aureus infection','Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.'),('HP:0032327','Interhemispheric cyst','Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.'),('HP:0032328','Temporomandibular joint adhesion','Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.'),('HP:0032329','Increased urinary 11-deoxycortisol level','An abnormally elevated concentration of 11-deoxycortisol in the urine.'),('HP:0032330','Increased urinary 11-deoxycorticosterone level','An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.'),('HP:0032331','Increased urinary 11-deoxytetrahydrocorticosterone level','An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.'),('HP:0032332','Oligoclonal elevation of circulating IgM','An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.'),('HP:0032333','Polyclonal elevation of circulating IgA','A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.'),('HP:0032334','Oligoclonal elevation of circulating IgA','An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032335','Monoclonal elevation of circulating IgA','An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032336','Increased circulating specific IgE antibody',''),('HP:0032337','Monoclonal elevation of circulating IgE','An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032338','Oligoclonal elevation of circulating IgE','An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032339','Polyclonal elevation of circulating IgE','A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.'),('HP:0032340','Abnormal spirometry test','An abnormal spirometry test result. In this test, the individual being tested exhales into a tube connected to a machine called a spirometer, which measures the volume of air expired against time. Patients are asked to take a maximal inspiration and then to forcefully expel air for as long and as quickly as possible.'),('HP:0032341','Reduced forced vital capacity','An abnormal reduction in the amount of air a person can expel following maximal insipiration.'),('HP:0032342','Reduced forced expiratory volume in one second',''),('HP:0032344','Upslanting toenail','Upturned concavity of toenails.'),('HP:0032345','Elevated cancer Ag 19-9 level','An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.'),('HP:0032346','Cutaneous lichen amyloidosis','Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.'),('HP:0032347','Cutaneous macular amyloidosis','A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern.'),('HP:0032348','Cutaneous nodular amyloidosis','A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.'),('HP:0032349','Serinuria','A increased concentration of serine in the urine.'),('HP:0032350','Sulfocysteinuria','A increased concentration of sulfocysteine in the urine.'),('HP:0032351','Phenylalaninuria','Increased level of phenylalanine in urine.'),('HP:0032352','Methioninuria','Increased level of methionine in urine.'),('HP:0032353','Leucinuria','Increased level of leucine in urine.'),('HP:0032355','Decreased peak expiratory flow','A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.'),('HP:0032356','Decreased pre-bronchodilator forced vital capacity','An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.'),('HP:0032357','Decreased post-bronchodilator forced vital capacity','An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.'),('HP:0032358','Decreased post-bronchodilator forced expiratory volume in one second','An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.'),('HP:0032359','Decreased forced expiratory flow 25-75%','A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.'),('HP:0032360','Decreased pre-bronchodilator forced expiratory flow 25-75%','A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.'),('HP:0032361','Decreased post-bronchodilator forced expiratory flow 25-75%','A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.'),('HP:0032362','Increased circulating corticosterone level','An abnormally elevated concentration of corticosterone in the blood.'),('HP:0032363','Decreased circulating corticosterone level','An abnormally reduced concentration of corticosterone in the blood.'),('HP:0032364','obsolete Abnormal CSF amino acid level',''),('HP:0032365','Exacerbated by aspirin ingestion','Applied to a sign or symptom that is worsened by ingestion of aspirin.'),('HP:0032366','Positive direct antiglobulin test','A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.'),('HP:0032367','Abnormal growth hormone level','Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.'),('HP:0032368','Acidemia','An abnormally low blood pH (usually defined as less than 7.35).'),('HP:0032369','Alkalemia','An abnormally high blood pH (usually defined as 7.41 or above).'),('HP:0032370','Blood group A','ABO phenotype A, corresponding to the genotype AO or AA.'),('HP:0032371','Isoleucinuria','An increased concentration of isoleucine in the urine.'),('HP:0032372','Increased peripheral blast count','An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.'),('HP:0032373','Duffy blood group','The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.'),('HP:0032374','Duffy Fya positivity','Presence of the Duffy Fya antigen.'),('HP:0032375','Duffy Fyb positivity','Presence of the Duffy Fyb antigen.'),('HP:0032376','Anti-beta 2 glycoprotein I antibody positivity','Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).'),('HP:0032377','Increased urinary orosomucoid','An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.'),('HP:0032378','Immediate-type hypersensitivity drug reaction','Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.'),('HP:0032379','Polymorphous light eruption','The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.'),('HP:0032381','Hydroa vacciniforme','In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.'),('HP:0032382','Uniparental disomy','Inheritance of both homologues of a chromosome pair from the same parent.'),('HP:0032383','Uniparental heterodisomy','A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.'),('HP:0032384','Uniparental isodisomy','A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.'),('HP:0032385','Abnormal circulating transferrin level','Any deviation from the normal concentration of transferrin in the blood circulation.'),('HP:0032386','Elevated transferrin level','An abnormally increased concentration of transferrin in the blood circulation.'),('HP:0032387','Reduced transferrin level','An abnormally decreased concentration of transferrin in the blood circulation.'),('HP:0032388','Periventricular nodular heterotopia','Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.'),('HP:0032389','Periventricular laminar heterotopia','A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.'),('HP:0032390','Periventricular ribbonlike heterotopia','Heterotopia that forms a continuous wavy line along the ventricular wall.'),('HP:0032391','Subcortical heterotopia','A form of heterotopia were the mislocalized gray matter is located deep within the white matter.'),('HP:0032392','Nodular subcortical heterotopia in peritrigonal regions','Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.'),('HP:0032393','Diffuse ribbon-like subcortical heterotopia','Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.'),('HP:0032394','Mesial parasagittal subcortical heterotopia','Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.'),('HP:0032395','Curvilinear subcortical heterotopia','Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.'),('HP:0032396','Transmantle columnar heterotopia','Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.'),('HP:0032397','Citrullinuria','An increased concentration of citrulline in the urine.'),('HP:0032398','Dysgyria','An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.'),('HP:0032399','Dysgyria with normal cortical thickness','An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.'),('HP:0032400','Dysgyria with thickened cortex','An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.'),('HP:0032401','Aspartic aciduria','A increased concentration of aspartic acid in the urine.'),('HP:0032403','Asparaginuria','An increased concentration of asparagine in the urine.'),('HP:0032404','Testicular mass','An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.'),('HP:0032405','Increased urinary phosphoserine level','An increased level of phosphoserine in the urine.'),('HP:0032406','Unilateral perisylvian polymicrogyria','A type of perisylvian polymicrogyria that largely affects one side of the brain.'),('HP:0032407','Bilateral perisylvian polymicrogyria','A type of perisylvian polymicrogyria that affects both sides of the brain.'),('HP:0032408','Breast mass','A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.'),('HP:0032409','Subcortical band heterotopia','A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.'),('HP:0032410','Bilateral generalized polymicrogyria','Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.'),('HP:0032411','Posterior predominant subcortical band heterotopia','Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.'),('HP:0032412','Anterior predominant subcortical band heterotopia','Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.'),('HP:0032413','Diffuse subcortical band heterotopia','Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.'),('HP:0032414','Hydrixylysinuria','The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.'),('HP:0032415','Parasagittal parieto-occipital polymicrogyria','Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.'),('HP:0032416','Retinal microaneurysm','A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.'),('HP:0032417','Periglomerular fibrosis','Periglomerular fibrosis is defined as glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane.'),('HP:0032418','Abnormal HDL subfraction concentration','An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).'),('HP:0032419','Abnormal HDL2a concentration','Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.'),('HP:0032420','Increased HDL2a concentration','An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.'),('HP:0032421','Decreased HDL2a concentration','A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.'),('HP:0032422','Abnormal HDL2b concentration','Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm.'),('HP:0032423','Decreased HDL2b concentration','A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.'),('HP:0032424','Increased HDL2b concentration','An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.'),('HP:0032425','Abnormal HDL3a concentration','Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.'),('HP:0032426','Abnormal HDL3b concentration','Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.'),('HP:0032427','Abnormal HDL3c concentration','Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.'),('HP:0032428','Increased HDL3a concentration','An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.'),('HP:0032429','Decreased HDL3a concentration','A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.'),('HP:0032430','Increased HDL3b concentration','An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.'),('HP:0032431','Decreased HDL3b concentration','A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.'),('HP:0032432','Increased HDL3c concentration','An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.'),('HP:0032433','Decreased HDL3c concentration','A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.'),('HP:0032434','Delayed umbilical cord separation','Separation of the umbilical cord occurs at an abnormally late timepoint.'),('HP:0032435','Neonatal omphalitis','An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.'),('HP:0032436','Abnormal C-reactive protein level','Any deviation from the normal concentration of C-reactive protein in the blood circulation.'),('HP:0032437','Reduced C-reactive protein level','An abnormal decrease of the C-reactive protein level in serum.'),('HP:0032438','Platelet anisocytosis','Abnormally increased variability in the size of platelets.'),('HP:0032439','Airborn particle hypersensitivity','An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.'),('HP:0032440','Blood group B','ABO phenotype B, corresponding to the genotype BO or BB.'),('HP:0032441','Blood group AB','ABO phenotype AB, corresponding to the genotype AB.'),('HP:0032442','Blood group O','ABO phenotype O, corresponding to the genotype OO.'),('HP:0032443','Past medical history','In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient`s medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.'),('HP:0032444','Status post organ transplantation','The affected individual has received an organ transplant previous to the current medical encounter.'),('HP:0032445','Pulmonary cyst','A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.'),('HP:0032446','Pulmonary bulla','Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.'),('HP:0032447','Pulmonary bleb','A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.'),('HP:0032448','Achlorhydria','A condition in which production of hydrochloric acid in the stomach is absent.'),('HP:0032449','Abnormal dermoepidermal hemidesmosome morphology','An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.'),('HP:0032450','Positive blood arsenic test','Detection of arsenic in the blood circulation.'),('HP:0032451','Oral melanotic macule','Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.'),('HP:0032452','Oral melanoacanthoma','Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.'),('HP:0032453','Abnormal lip pigmentation','Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.'),('HP:0032454','Labial melanotic macule','Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.'),('HP:0032455','Reduced granulocyte CD18 level','Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.'),('HP:0032456','Unlayered lissencephaly','A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.'),('HP:0032457','2-3-layered lissencephaly','Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.'),('HP:0032458','Narrowing of medullary canal','A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.'),('HP:0032459','Abnormal phosphoribosylpyrophosphate synthetase level','Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.'),('HP:0032460','Decreased phosphoribosylpyrophosphate synthetase level','Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.'),('HP:0032461','obsolete Tiger-tail banding',''),('HP:0032462','Increased circulating palmitate level','An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.'),('HP:0032463','Reduced circulating fibronectin level','A reduction below the normal concentration of fibronectin the the blood circulation.'),('HP:0032464','Ureteral hypoplasia','Underdevelopment of the ureter.'),('HP:0032465','Bladder trabeculation','Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.'),('HP:0032466','Aplasia of the olfactory bulb','Lack of formation (congenital absence) of the olfactory bulb.'),('HP:0032467','Past obstetric history','Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.'),('HP:0032468','History of stillbirth','One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).'),('HP:0032469','Anti-asialoglycoprotein receptor antibody positivity','Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.'),('HP:0032470','Monilethrix','The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.'),('HP:0032471','Focal polymicrogyria','Polymicrogyria affecting one or multiple small areas of the cerebral cortex.'),('HP:0032472','Abnormal urine urobilinogen level','An abnormal concentration of urobilinogen in the urine.'),('HP:0032473','Decreased urine urobilinogen','An abnormally reduced concentration of urobilinogen in the urine.'),('HP:0032475','6-layered lissencephaly',''),('HP:0032476','Abnormal circulating vitamin B6 level','An abnormal concentration of vitamin B6 in the blood circulation.'),('HP:0032477','Elevated circulating vitamin B6 level','An abnormally increased concentration of vitamin B6 in the blood circulation.'),('HP:0032478','Lateral spinal meningocele','Protrusion of the arachnoid and dura through spinal foramina.'),('HP:0032479','Preimplantation lethality','It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual`s embryos are arrested at early stages of development.'),('HP:0032480','Beta-aminoisobutyric aciduria','An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.'),('HP:0032481','Abnormal pituitary glycoprotein hormone alpha subunit level','Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).'),('HP:0032482','Decreased pituitary glycoprotein hormone alpha subunit level','An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).'),('HP:0032483','Abnormal fecal test result','Abnormal level of metabolite or other abnormal analyte result in a stool test.'),('HP:0032484','Elevated fecal sodium','An elevated concentration of sodium in feces.'),('HP:0032485','Abnormal fecal osmolality','Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.'),('HP:0032486','Elevated fecal osmolality','Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.'),('HP:0032487','Reduced fecal osmolality','Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.'),('HP:0032488','Abnormal fecal pH','Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.'),('HP:0032489','Elevated fecal pH','Abnormally high fecal pH, i.e., abnormal alkalinity of feces.'),('HP:0032490','Decreased fecal pH','Abnormally low fecal pH, i.e., abnormal acidity of feces.'),('HP:0032491','Increased circulating argininosuccinic acid','An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.'),('HP:0032492','Anti-myelin oligodendrocyte glycoprotein antibody positivity','Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.'),('HP:0032493','Increased circulating trypsinogen','An abnormally high concentration of trypsinogen in the blood circulation.'),('HP:0032495','Abnormal terminal:vellus ratio','A deviation from the normal proportion of terminal to vellus hairs.'),('HP:0032496','Elevated terminal:vellus ratio','An increased proportion of terminal hairs compared to vellus hairs.'),('HP:0032497','Reduced terminal:vellus ratio','A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.'),('HP:0032499','Giant neutrophil granules','The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.'),('HP:0032500','Exacerbated by tobacco use','Applied to a sign or symptom that is worsened by smoking tobacco products.'),('HP:0032501','Exacerbated by contraceptive medication','Applied to a sign or symptom that is worsened by taking contraceptive medication.'),('HP:0032502','Exacerbated by barbiturate medication','Applied to a sign or symptom that is worsened by taking barbituates.'),('HP:0032503','Ameliorated by ethanol ingestion','Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).'),('HP:0032504','Lhermitte`s sign','An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.'),('HP:0032505','Hydrophobia','Pharyngeal spasms provoked by an attempt to drink.'),('HP:0032506','Alien limb phenomenon','Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.'),('HP:0032507','Labiomental fasciculations','Fasciculations affecting the tongue muscle and the musculature of the chin.'),('HP:0032508','Polyembolokoilamania','Habitual insertion of foreign bodies into bodily orifices.'),('HP:0032509','Onychotillomania','Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.'),('HP:0032510','Tendon pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.'),('HP:0032511','Superiorly positioned umbilicus',''),('HP:0032513','Four-vessel umbilical cord','Four-vessel umbilical cord containing two arteries and two veins.'),('HP:0032514','Duplicated lacrimal punctum','A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face.'),('HP:0032515','Deep dermatophytosis','A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.'),('HP:0032516','Invasive dermatophyte infection','Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.'),('HP:0032517','Majocchi`s granuloma','Majocchi`s granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.'),('HP:0032518','Disseminated dermatophytosis','A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.'),('HP:0032519','Increased Burr cell count','Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.'),('HP:0032520','Masseter muscular weakness','Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.'),('HP:0032521','Self hugging','Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.'),('HP:0032522','Ameliorated by immunosuppresion','Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.'),('HP:0032523','Tendon thickening','An abnormal increase in the thickness (diameter) of a tendon.'),('HP:0032524','Long thumb','Length of the thumb is greater than normal.'),('HP:0032525','Aggravated by acetylcholinesterase inhibitor','Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).'),('HP:0032526','Ameliorated by acetylcholinesterase inhibitor','Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.'),('HP:0032527','Inferiorly positioned umbilicus','The position of the umbilicus (belly button) is abnormally low (inferior).'),('HP:0032528','Elevated urinary 4-hydroxybutyric acid','An increased amount of 4-hydroxybutyric acid in the urine.'),('HP:0032529','Elevated circulating gamma-aminobutyric acid concentration','An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation.'),('HP:0032530','Decreased succinic semialdehyde dehydrogenase level','Reduced level of succinic semialdehyde dehydrogenase (SSADH).'),('HP:0032531','Elevated CSF gamma-aminobutyric acid concentration',''),('HP:0032532','Elevated CSF 4-hydroxybutyric acid concentration','Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).'),('HP:0032533','Elevated circulating acetone','An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.'),('HP:0032534','Exacerbated by methylxanthine ingestion','Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).'),('HP:0032535','Cervical (neck)','Applies to an abnormality that is situated in the neck.'),('HP:0032536','Increased number of lymph nodes','An abnormally elevated number of lymph nodes in an anatomical region.'),('HP:0032537','Delayed fracture healing','A delay in healing of a fracture past the expected duration.'),('HP:0032538','Pretibial dimple','A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.'),('HP:0032539','Joint extensor surface localization','Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint.'),('HP:0032540','Joint flexor surface localization','Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed).'),('HP:0032541','Knuckle pad','Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.'),('HP:0032542','Exacerbated by pregnancy','Applied to a sign or symptom that is worsened by being pregnant.'),('HP:0032543','Lithoptysis','Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.'),('HP:0032544','Predominant small joint localization','Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.'),('HP:0032545','Abdominal rigidity','Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.'),('HP:0032546','Abdominal guarding','A voluntary contraction of the abdominal wall musculature to avoid pain.'),('HP:0032547','Low intraocular pressure','An abnormal decrease of the pressure within the eye.'),('HP:0032548','Increased placental thickness','Abnormally elevated placental thickness.'),('HP:0032549','Persistent asymmetrical tonic neck reflex','Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.'),('HP:0032550','Howell-Jolly bodies','Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.'),('HP:0032551','Hemorrhoids','Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.'),('HP:0032552','Abnormal pulse','An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.'),('HP:0032553','Weak pulse','A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.'),('HP:0032554','Absent pulse','The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.'),('HP:0032555','Bounding pulse','Increased amplitude (strength) of the pulse.'),('HP:0032556','Circumoral cyanosis','Persistent blue color of the skin that surrounds the mouth.'),('HP:0032557','History of bone marrow transplant','A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.'),('HP:0032558','Absent sperm flagella','Sperm cells lacking flagella.'),('HP:0032559','Short sperm flagella','Sperm cells with abnormally short flagella.'),('HP:0032560','Coiled sperm flagella','Sperm cells whose flagella are twisted (coiled).'),('HP:0032561','Microcephalic sperm head','Decreased size of the head of sperm.'),('HP:0032562','Tapered sperm head','Sperm with cigar-shaped heads that gradually dimish in diameter (taper).'),('HP:0032563','Dacryocytosis','Presence of teardrop-shaped red blood cells.'),('HP:0032564','Ileitis','Inflammation of the ileum.'),('HP:0032565','Vaginal mucosal ulceration',''),('HP:0032566','Oval macrocytosis','Enlarged, oval-shaped erythrocytes (red blood cells).'),('HP:0032567','Lipiduria','An increased lipid content in the urine.'),('HP:0032568','Urinary mulberry cells','Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.'),('HP:0032569','Temporal bossing',''),('HP:0032570','Pontine ischemic lacunes','Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.'),('HP:0032571','Increased oocyte death','An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.'),('HP:0032572','Abnormal urinary nucleobase concentration',''),('HP:0032573','Elevated urinary cytidine','Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.'),('HP:0032574','Elevated uridine in urine','Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.'),('HP:0032575','Decreased circulating 12-HETE','A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.'),('HP:0032576','Intracellular accumulation of Dol-PP-GlcNAc2Man5','Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.'),('HP:0032577','Clonal T cell receptor rearrangement','Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.'),('HP:0032578','Third ventricle colloid cyst','An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.'),('HP:0032579','Vascular hamartoma','A benign focal growth composed of vascular tissue.'),('HP:0032580','Abnormal bulbus cordis morphology','Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.'),('HP:0032581','Abnormal renal insterstitial morphology','Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.'),('HP:0032582','Renal interstitial foam cells','Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.'),('HP:0032583','Renal glomerular foam cells',''),('HP:0032584','Renal interstitial neutrophil infiltration','Increased numbers of neutrophils in the interstitial tissues of the kidney.'),('HP:0032585','Renal interstitial eosinophil infiltration','Increased numbers of eosinophils in the interstitial tissues of the kidney.'),('HP:0032586','Renal interstitial plasma cell infiltration','Increased numbers of plasma cells in the interstitial tissues of the kidney.'),('HP:0032587','Renal interstitial calcium oxalate','The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.'),('HP:0032588','Hand apraxia','Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.'),('HP:0032589','Renal lymphocytic tubulitis','Infiltration of the renal tubular epithelium by lymphocytes.'),('HP:0032590','Renal neutrophilic tubulitis','Infiltration of the renal tubular epithelium by neutrophils.'),('HP:0032591','Renal interstitial hemosiderin','Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.'),('HP:0032592','Aplasia of the right hemidiaphragm','Congenital absence of the right-sided diaphragm.'),('HP:0032593','Myoglobin casts','A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.'),('HP:0032594','Renal tubular basement membrane denudation','Naked basement membranes without tubular epithelium.'),('HP:0032595','Renal tubular epithelial cell detachment','Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.'),('HP:0032596','Renal tubular epithelial cell cytoplasmic vacuolization','Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.'),('HP:0032597','Renal tubular epithelial cell sloughing','At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.'),('HP:0032598','Blebbing of apical cytoplasm of renal tubular epithelial cells','Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.'),('HP:0032599','Abnormal renal tubular epithelial morphology','Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.'),('HP:0032600','Renal tubular epithelial cell hyaline droplets','Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.'),('HP:0032601','Multinucleation of renal tubular epithelial cells','Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.'),('HP:0032602','Prominent nucleoli of renal tubular epithelial cells','Tubular epithelium with nucleoli clearly visible at 100-fold magnification.'),('HP:0032603','Renal tubular epithelial cell simplification','Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.'),('HP:0032604','Renal tubular epithelial cell mitosis','Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.'),('HP:0032605','High renal tubular epithelial cell N/C ratio','At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.'),('HP:0032606','Renal tubular epithelial lipofuscin','Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.'),('HP:0032607','Renal tubular epithelial cell swelling','Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.'),('HP:0032608','Thyroidization-type tubular atrophy','A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.'),('HP:0032609','Endocrine-type tubular atrophy','A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.'),('HP:0032610','Tubulointerstitial mycobacterial infiltration','Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.'),('HP:0032611','Renal tubular epithelial cell hemosiderin','Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.'),('HP:0032612','Triphalangeal hallux','A hallux (big toe) with three phalanges in a single, proximo-distal axis.'),('HP:0032613','Renal interstitial amyloid deposits','Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.'),('HP:0032614','Renal glomerular amyloid deposition','Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.'),('HP:0032615','Abnormal diffusion weighted cerebral MRI morphology','A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.'),('HP:0032616','Renal interstitial immunoglobulin deposits','Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).'),('HP:0032617','Renal interstitial hemorrhage','A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.'),('HP:0032618','Renal necrosis','Cell death (necrosis) affecting one or more parts of the kidney.'),('HP:0032619','Perinephric abscess','A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).'),('HP:0032620','Intrarenal abscess','An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.'),('HP:0032621','Hyperchromasia of renal tubular epithelial cells','At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.'),('HP:0032622','Tubular luminal dilatation','Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.'),('HP:0032623','Renal intratubular casts','Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.'),('HP:0032624','Intratubular bilirubin casts','A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).'),('HP:0032625','Intratubular erythrocyte cast','Casts that contain red blood cells and are located within the tubuli of the kidney.'),('HP:0032626','Intratubular vancomycin casts','Intratubular casts composed of vancomycin aggregates and uromodulin.'),('HP:0032627','Intratubular leukocyte casts','Casts that contain white blood cells and are located within the tubuli of the kidney.'),('HP:0032628','Renal intratubular crystals',''),('HP:0032629','Intratubular dihydroxyadenuria crystals','Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.'),('HP:0032630','Intratubular light-chain casts','The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.'),('HP:0032631','Intratubular hemoglobin casts','A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.'),('HP:0032632','Renal papillary necrosis','Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.'),('HP:0032633','Intratubular hyaline casts','A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.'),('HP:0032634','Intratubular myoglobin cast','Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.'),('HP:0032635','Tubulointerstitial microganismal infiltration','Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.'),('HP:0032636','Tubulointerstitial viral infiltration','Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.'),('HP:0032637','Renal interstitial edema','Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.'),('HP:0032638','Elevated urine mevalonic acid','An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.'),('HP:0032639','Elevated leukocyte cystine','An increased concentration of cystine within white blood cells.'),('HP:0032640','Elevated circulating CCL18 level','An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.'),('HP:0032641','Renal interstitial granulomas','Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.'),('HP:0032642','Renal interstitial necrotizing granulomas','An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.'),('HP:0032643','Renal interstitial non-necrotizing granulomas','Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.'),('HP:0032644','Renal interstitial deposits','Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.'),('HP:0032645','Renal interstitial mononuclear cell infiltration','Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).'),('HP:0032646','Renal interstitial xanthogranulomatous inflammation','Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.'),('HP:0032647','Renal tubular epithelial cell apoptosis','Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.'),('HP:0032648','Tubularization of Bowman capsule','The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.'),('HP:0032649','Skewfoot','A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus.'),('HP:0032650','Elevated CSF glial fibrillary acidic protein level','Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.'),('HP:0032651','Elevated CSF chitinase-3-like protein 1 level','Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.'),('HP:0032652','Elevated CSF chitotriosidase 1 level','Increased concentration of chitotriosidase 1 in cerebrospinal fluid.'),('HP:0032653','Elevated lactate:pyruvate ratio','An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.'),('HP:0032654','Impaired flow-mediated arterial dilatation','Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.'),('HP:0032655','Decreased adipose tissue tocopherol level','A reduced concentration of tocopherol in fat tissue.'),('HP:0032656','Febrile status epilepticus','A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.'),('HP:0032657','Elevated circulating lyso-globotriaosylsphingosine concentration','An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.'),('HP:0032658','Status epilepticus with prominent motor symptoms','Status epilepticus with prominent motor signs during the prolonged seizure.'),('HP:0032659','Non-convulsive status epilepticus with coma','A type of status epilepticus without prominent motor symptoms and in the presence of coma.'),('HP:0032660','Convulsive status epilepticus','A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.\ncomment: \nsource: \nseeAlso: Tonic-clonic status epilepticus'),('HP:0032661','Generalized convulsive status epilepticus','A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.'),('HP:0032662','Focal-onset seizure evolving into bilateral convulsive status epilepticus','A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.'),('HP:0032663','Focal motor status epilepticus','Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.'),('HP:0032664','Adversive status epilepticus','A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.'),('HP:0032665','Repeated focal motor seizures','A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.'),('HP:0032666','Hyperkinetic status epilepticus','Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.'),('HP:0032667','Myoclonic status epilepticus','A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.'),('HP:0032668','Myoclonic status epilepticus without coma','A type of myoclonic status epilepticus in the absence of coma.'),('HP:0032669','Myoclonic status epilepticus with coma','A type of myoclonic status epilepticus in the presence of coma.'),('HP:0032670','Tonic status epilepticus','Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.'),('HP:0032671','Non-convulsive status epilepticus without coma','A type of status epilepticus without prominent motor symptoms in the absence of coma.'),('HP:0032672','Autonomic status epilepticus','Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.'),('HP:0032673','Focal non-convulsive status epilepticus without coma','Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.'),('HP:0032674','Cutaneous wound','A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.'),('HP:0032675','Acute cutaneous wound','A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.'),('HP:0032676','Chronic cutaneous wound','A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.'),('HP:0032677','Generalized-onset motor seizure','A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.'),('HP:0032678','Eyelid myoclonia seizure','An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.'),('HP:0032679','Focal non-motor seizure','A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.'),('HP:0032680','Focal cognitive seizure','A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.'),('HP:0032681','Focal aware cognitive seizure','A focal aware cognitive seizure during which awareness is retained throughout the seizure.'),('HP:0032682','Focal non-motor aware seizure','A focal non-motor seizure in which awareness is retained throughout the seizure.'),('HP:0032683','obsolete Focal aware cognitive seizure with impaired attention',''),('HP:0032684','Focal aware cognitive seizure with auditory agnosia','A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.'),('HP:0032685','Focal cognitive seizure with auditory agnosia','A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.'),('HP:0032686','Focal aware cognitive seizure with memory impairment','A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.'),('HP:0032687','Focal cognitive seizure with memory impairment','A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).'),('HP:0032688','Focal aware cognitive seizure with dissociation','A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.'),('HP:0032689','Focal cognitive seizure with dissociation','A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.'),('HP:0032690','Focal aware cognitive seizure with dyscalculia/acalculia','A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.'),('HP:0032691','Focal cognitive seizure with dyscalculia/acalculia','A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.'),('HP:0032692','Focal cognitive seizure with forced thinking','A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.'),('HP:0032693','Focal cognitive seizure with neglect','A focal cognitive seizure characterized by neglect as the initial semiological manifestation.'),('HP:0032694','Focal cognitive seizure with dyslexia/alexia','A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.'),('HP:0032695','Focal cognitive seizure with illusion','A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.'),('HP:0032696','Focal cognitive seizure with receptive dysphasia/aphasia','A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.'),('HP:0032697','Focal cognitive seizure with deja vu/jamais vu','A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.'),('HP:0032698','Focal cognitive seizure with conduction dysphasia/aphasia','A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.'),('HP:0032699','Focal cognitive seizure with dysgraphia/agraphia','A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.'),('HP:0032700','Focal cognitive seizure with left-right confusion','A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.'),('HP:0032701','Focal cognitive seizure with anomia','A focal cognitive seizure characterized by anomia as the initial semiological manifestation.'),('HP:0032702','Focal cognitive seizure with expressive dysphasia/aphasia','A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.'),('HP:0032703','Focal cognitive seizure with hallucination','A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.'),('HP:0032704','Focal aware cognitive seizure with illusion','A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.'),('HP:0032705','Focal aware cognitive seizure with forced thinking','A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.'),('HP:0032706','Focal aware cognitive seizure with left-right confusion','A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.'),('HP:0032707','Focal aware cognitive seizure with dyslexia/alexia','A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.'),('HP:0032708','Focal aware cognitive seizure with anomia','A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.'),('HP:0032709','Focal aware cognitive seizure with dysgraphia/agraphia','A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.'),('HP:0032710','Focal aware cognitive seizure with receptive dysphasia/aphasia','A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.'),('HP:0032711','Focal aware clonic seizure','A type of focal clonic seizure during which awareness is fully retained throughout.'),('HP:0032712','Focal motor impaired awareness seizure','A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032713','Focal motor impaired awareness seizure with version','A focal motor seizure with version characterized by impaired awareness at some point during the seizure.'),('HP:0032714','Focal impaired awareness bilateral motor seizure','A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.'),('HP:0032715','Focal bilateral motor seizure','A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.'),('HP:0032716','Focal non-motor impaired awareness seizure','A focal non-motor seizure characterized by impaired awareness at some point during the seizure.'),('HP:0032717','Focal motor impaired awareness seizure with dystonia','A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.'),('HP:0032718','Focal motor seizure with dystonia','A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.'),('HP:0032719','Focal motor impaired awareness seizure with dysarthria/anarthria','A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.'),('HP:0032720','Focal motor seizure with dysarthria/anarthria','A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.'),('HP:0032721','Focal motor seizure with paresis/paralysis','A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.'),('HP:0032722','Focal aware tonic seizure','A type of focal tonic seizure during which awareness is fully retained throughout.'),('HP:0032723','Focal motor aware seizure with dystonia','A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.'),('HP:0032724','Focal impaired awareness tonic seizure','A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032725','Focal impaired awareness clonic seizure','A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.'),('HP:0032726','Focal impaired awareness hyperkinetic seizure','A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032727','Focal emotional seizure with agitation','Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.'),('HP:0032728','Focal impaired awareness atonic seizure','A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032729','Focal emotional seizure with pleasure','Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.'),('HP:0032730','Focal impaired awareness myoclonic seizure','A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032731','Focal aware hyperkinetic seizure','A type of focal hypermotor seizure during which awareness is fully retained throughout.'),('HP:0032732','Focal motor aware seizure with paresis/paralysis','A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.'),('HP:0032733','Focal motor aware seizure with dysarthria/anarthria','A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.'),('HP:0032734','Focal aware emotional seizure','A focal emotional seizure during which awareness is retained throughout the seizure.'),('HP:0032735','Focal aware emotional seizure with anger','Focal emotional seizure with anger in which awareness is retained throughout.'),('HP:0032736','Focal emotional seizure with anger','Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.'),('HP:0032737','Focal emotional seizure with paranoia','Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.'),('HP:0032738','Focal aware emotional seizure with fear/anxiety/panic','Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.'),('HP:0032739','Focal emotional seizure with fear/anxiety/panic','Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.'),('HP:0032740','Focal aware autonomic seizure','A focal autonomic seizure characterised by retained awareness throughout the seizure.'),('HP:0032741','Focal aware emotional seizure with paranoia','Focal emotional seizure with paranoia in which awareness is retained throughout.'),('HP:0032742','Focal aware emotional seizure with pleasure','Focal emotional seizure with pleasure in which awareness is retained throughout.'),('HP:0032743','Focal aware emotional seizure with crying','Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.'),('HP:0032744','Focal aware emotional seizure with agitation','Focal emotional seizure with agitation in which awareness is retained throughout.'),('HP:0032745','Focal aware emotional seizure with laughing','Focal emotional seizure with laughing in which awareness is retained throughout.'),('HP:0032746','Focal impaired awareness emotional seizure','A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032747','Focal impaired awareness emotional seizure with pleasure','Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032748','Focal impaired awareness emotional seizure with anger','Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032749','Focal impaired awareness emotional seizure with paranoia','Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032750','Focal impaired awareness emotional seizure with laughing','Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032751','Focal impaired awareness emotional seizure with crying','Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032752','Focal impaired awareness emotional seizure with fear/anxiety/panic','Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032753','Focal impaired awareness emotional seizure with agitation','A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032754','Focal aware sensory seizure','A focal sensory seizure during which awareness is retained throughout the seizure.'),('HP:0032755','Focal impaired awareness autonomic seizure','A focal autonomic seizure characterised by impaired awareness at some point within the seizure.'),('HP:0032756','Focal impaired awareness cognitive seizure','A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032757','Focal aware hemiclonic seizure','A focal hemiclonic seizure in which awareness is retained throughout.'),('HP:0032758','Focal aware myoclonic seizure','A type of focal myoclonic seizure during which awareness is fully retained throughout.'),('HP:0032759','Focal sensory seizure with vestibular features','A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.'),('HP:0032760','Focal sensory seizure with hot-cold sensations','A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.'),('HP:0032761','Focal aware autonomic seizure with pallor/flushing','A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.'),('HP:0032762','Focal autonomic seizure with pallor/flushing','A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.'),('HP:0032763','Focal autonomic seizure with pupillary dilation/constriction','A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.'),('HP:0032764','Focal autonomic seizure with erection','A type of focal autonomic seizure characterised by penile erection as the intial semiological feature.'),('HP:0032765','Focal autonomic seizure with urge to urinate/defecate','A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.'),('HP:0032766','Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration','A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.'),('HP:0032767','Focal autonomic seizure with piloerection','A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.'),('HP:0032768','Focal aware autonomic seizure with pupillary dilation/constriction','A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.'),('HP:0032769','Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration','An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.'),('HP:0032770','Focal aware autonomic seizure with erection','A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.'),('HP:0032771','Focal autonomic seizure with lacrimation','A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.'),('HP:0032772','Focal impaired awareness autonomic seizure with piloerection','A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.'),('HP:0032773','Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole','A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.'),('HP:0032774','Focal impaired awareness autonomic seizure with urge to urinate/defecate','A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.'),('HP:0032775','Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration','An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.'),('HP:0032776','Focal aware autonomic seizure with lacrimation',''),('HP:0032777','Focal impaired awareness autonomic seizure with pallor/flushing','A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.'),('HP:0032778','Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena','A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.'),('HP:0032779','Focal impaired awareness autonomic seizure with pupillary dilation/constriction','A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.'),('HP:0032780','Focal impaired awareness autonomic seizure with erection','A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.'),('HP:0032781','Focal aware autonomic seizure with urge to urinate/defecate','A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.'),('HP:0032782','Focal impaired awareness autonomic seizure with lacrimation','A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.'),('HP:0032783','Focal aware autonomic seizure with piloerection','A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.'),('HP:0032784','Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole','An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.'),('HP:0032785','Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena','A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.'),('HP:0032786','Migrating focal seizure','A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.'),('HP:0032787','Focal impaired awareness sensory seizure','A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032788','Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole','A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.'),('HP:0032789','Focal aware behavior arrest seizure','A focal behavior arrest seizure characterised by retained awareness throughout the seizure.'),('HP:0032790','Focal impaired awareness behavior arrest seizure','A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.'),('HP:0032791','Focal impaired awareness cognitive seizure with anomia','A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.'),('HP:0032792','Tonic seizure','A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.'),('HP:0032793','Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia','A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.'),('HP:0032794','Myoclonic seizure','A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.'),('HP:0032795','Generalized myoclonic-tonic-clonic seizure','A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.'),('HP:0032796','Focal impaired awareness cognitive seizure with left-right confusion','A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.'),('HP:0032797','Focal aware sensory seizure with olfactory features','Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.'),('HP:0032798','Focal impaired awareness cognitive seizure with neglect','A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.'),('HP:0032799','Focal impaired awareness hemiclonic seizure','A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.'),('HP:0032800','Focal aware sensory seizure with vestibular features','A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.'),('HP:0032801','Focal impaired awareness cognitive seizure with memory impairment','A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.'),('HP:0032802','Focal impaired awareness cognitive seizure with dyscalculia/acalculia','A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.'),('HP:0032803','Focal impaired awareness cognitive seizure with dysgraphia/agraphia','A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.'),('HP:0032804','Focal impaired awareness sensory seizure with olfactory features','A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032805','Focal impaired awareness sensory seizure with vestibular features','A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032806','Focal impaired awareness sensory seizure with visual features','A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032807','Neonatal seizure','A seizure occurring within the neonatal period (28 days beyond the full term date).'),('HP:0032808','Neonatal seizure with electrographic correlate','Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.'),('HP:0032809','Neonatal electro-clinical seizure','Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.'),('HP:0032810','Focal sensory seizure with cephalic sensation','A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.'),('HP:0032811','Neonatal electrographic only seizure','Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.'),('HP:0032812','Neonatal electro-clinical non-motor seizure',''),('HP:0032813','Neonatal electro-clinical motor seizure','Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.'),('HP:0032814','Neonatal electro-clinical clonic seizure','Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.'),('HP:0032815','Neonatal electro-clinical myoclonic seizure','Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).'),('HP:0032816','Neonatal multifocal myoclonic seizure','Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites.'),('HP:0032817','Neonatal focal myoclonic seizure','Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.'),('HP:0032818','Neonatal focal clonic seizure','Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.'),('HP:0032819','Neonatal bilateral clonic seizure','Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.'),('HP:0032820','Neonatal multifocal clonic seizure','Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.'),('HP:0032821','Neonatal electro-clinical tonic seizure','Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.'),('HP:0032822','Neonatal electro-clinical autonomic seizure','Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.'),('HP:0032823','Neonatal electro-clinical seizure with behavior arrest','Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.'),('HP:0032824','Neonatal focal tonic seizure','Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.'),('HP:0032825','Neonatal electro-clinical sequential motor seizure','Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.'),('HP:0032826','Focal neonatal sequential seizure','Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.'),('HP:0032827','Multifocal neonatal sequential seizure','Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.'),('HP:0032828','Neonatal bilateral symmetric tonic seizure','Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.'),('HP:0032829','Neonatal electro-clinical motor seizure with automatism','Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features.'),('HP:0032830','Neonatal seizure with bilateral asymmetric automatism','Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.'),('HP:0032831','Neonatal bilateral asymmetric tonic seizure','Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.'),('HP:0032832','Neonatal bilateral asymmetric myoclonic seizure','Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically.'),('HP:0032833','Neonatal epileptic spasm','A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.'),('HP:0032834','Neonatal seizure with unilateral automatism','Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body.'),('HP:0032835','Neonatal seizure with bilateral symmetric automatism','Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically.'),('HP:0032836','Neonatal bilateral symmetric myoclonic seizure','Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically.'),('HP:0032837','Bilateral asymmetric neonatal sequential seizure','Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.'),('HP:0032838','Neonatal unilateral epileptic spasm','Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.'),('HP:0032839','Bilateral symmetric neonatal sequential seizure','Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.'),('HP:0032840','Neonatal bilateral symmetric epileptic spasm','Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.'),('HP:0032841','Neonatal bilateral asymmetric epileptic spasm','Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.'),('HP:0032842','Generalized-onset epileptic spasm','A type of epileptic spasm of generalized onset.'),('HP:0032843','Focal-onset epileptic spasm','A type of epileptic spasm of focal onset.'),('HP:0032844','Focal impaired awareness epileptic spasm','A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.'),('HP:0032845','Focal aware epileptic spasm','A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.'),('HP:0032846','Focal motor seizure with negative myoclonus','A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.'),('HP:0032847','Focal impaired awareness hemifacial clonic seizure','Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.'),('HP:0032848','Focal aware cognitive seizure with neglect','A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.'),('HP:0032849','Aphasic status epilepticus','Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.'),('HP:0032850','Focal aware cognitive seizure with expressive dysphasia/aphasia','A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.'),('HP:0032851','Focal aware sensory seizure with visual features','A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.'),('HP:0032852','Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia','A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.'),('HP:0032853','Focal impaired awareness sensory seizure with hot-cold sensations','A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032854','Focal aware hemifacial clonic seizure','Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.'),('HP:0032855','Photosensitive myoclonic-tonic-clonic seizure','Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.'),('HP:0032856','Focal aware bilateral motor seizure','A type of focal bilateral motor seizure during which awareness is fully retained throughout.'),('HP:0032857','Focal motor aware seizure with negative myoclonus','A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.'),('HP:0032858','Focal motor impaired awareness seizure with negative myoclonus','A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure.'),('HP:0032859','Focal motor impaired awareness seizure with paresis/paralysis','A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.'),('HP:0032860','Generalized non-convulsive status epilepticus without coma','Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.'),('HP:0032861','Focal non-convulsive status epilepticus with impairment of consciousness','Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.'),('HP:0032862','Status epilepticus with ictal paresis','A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.'),('HP:0032863','Typical absence status epilepticus','Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.'),('HP:0032864','Focal aware sensory seizure with auditory features','A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.'),('HP:0032865','Myoclonic absence status epilepticus','Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.'),('HP:0032866','Oculoclonic status epilepticus','A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.'),('HP:0032867','Refractory status epilepticus','Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.'),('HP:0032868','Super-refractory status epilepticus','Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.'),('HP:0032869','Focal non-convulsive status epilepticus without impairment of consciousness','Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.'),('HP:0032870','Focal impaired awareness cognitive seizure with dyslexia/alexia','A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.'),('HP:0032871','Focal aware cognitive seizure with hallucination','A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.'),('HP:0032872','Focal impaired awareness cognitive seizure with illusion','A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.'),('HP:0032873','Focal aware sensory seizure with cephalic sensation','A seizure characterized by a sensation in the head such as light-headedness or headache.'),('HP:0032874','Focal impaired awareness cognitive seizure with auditory agnosia','A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.'),('HP:0032875','obsolete Focal impaired awareness cognitive seizure with impaired responsiveness',''),('HP:0032876','Focal aware cognitive seizure with conduction dysphasia/aphasia','A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.'),('HP:0032877','Focal aware sensory seizure with hot-cold sensations','A seizure characterized by sensations of feeling hot and then cold.'),('HP:0032878','Focal impaired awareness sensory seizure with cephalic sensation','A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032879','Focal impaired awareness seizure with dissociation at onset','A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure.'),('HP:0032880','Focal impaired awareness sensory seizure with auditory features','A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032881','obsolete Focal aware cognitive seizure with impaired responsiveness',''),('HP:0032882','Focal impaired awareness cognitive seizure with deja vu/jamais vu','A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.'),('HP:0032883','Focal aware cognitive seizure with deja vu/jamais vu','A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.'),('HP:0032884','Focal aware sensory seizure with somatosensory features','A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.'),('HP:0032885','Focal impaired awareness cognitive seizure with hallucination','A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.'),('HP:0032886','Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia','A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.'),('HP:0032887','Generalized atonic seizure','Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.'),('HP:0032888','Focal impaired awareness cognitive seizure with forced thinking','A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.'),('HP:0032889','Focal aware sensory seizure with gustatory features','A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.'),('HP:0032890','Focal impaired awareness sensory seizure with somatosensory features','A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032891','Focal motor aware seizure with version','A focal motor seizure with version characterized by retained awareness throughout the seizure.'),('HP:0032892','Infection-related seizure','Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.'),('HP:0032893','Gastroenteritis-related afebrile seizure','Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.'),('HP:0032894','Seizure precipitated by febrile infection','Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.'),('HP:0032895','Febrile seizure outside the age of 3 months to 6 years','Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.'),('HP:0032896','Music-induced seizure','Seizure precipitated by listening to music or other complex sounds.'),('HP:0032897','Focal impaired awareness sensory seizure with gustatory features','A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032898','Focal automatism seizure','A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.'),('HP:0032899','Focal orofacial automatism seizure','A type of focal automatism seizure characterized by orofacial automatisms at onset.'),('HP:0032900','Focal manual automatism seizure','A type of focal automatism seizure characterized by manual automatisms at onset.'),('HP:0032901','Focal pedal automatism seizure','A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.'),('HP:0032902','Focal perseverative automatism seizure','A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.'),('HP:0032903','Focal vocal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.'),('HP:0032904','Focal verbal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.'),('HP:0032905','Focal sexual automatism seizure','A type of focal automatism seizure characterized by involuntary sexual behavior at onset.'),('HP:0032906','Focal head nodding automatism seizure','A type of focal automatism seizure characterized by involuntary head nodding at onset.'),('HP:0032907','Focal undressing automatism seizure','A type of focal automatism seizure characterized by involuntary undressing at onset.'),('HP:0032908','Focal aware undressing automatism seizure','A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.'),('HP:0032909','Focal impaired awareness automatism seizure','A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032910','Focal aware automatism seizure','A type of focal automatism seizure during which awareness is fully retained throughout.'),('HP:0032911','Focal aware orofacial automatism seizure','A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.'),('HP:0032912','Focal aware manual automatism seizure','A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.'),('HP:0032913','Focal aware pedal automatism seizure','A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.'),('HP:0032914','Focal aware perseverative automatism seizure','A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.'),('HP:0032915','Focal aware vocal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.'),('HP:0032916','Focal aware verbal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.'),('HP:0032917','Focal aware sexual automatism seizure','A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.'),('HP:0032918','Focal impaired awareness orofacial automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.'),('HP:0032919','Focal aware head nodding automatism seizure','A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.'),('HP:0032920','Focal impaired awareness manual automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.'),('HP:0032921','Focal impaired awareness pedal automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.'),('HP:0032922','Focal impaired awareness perseverative automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.'),('HP:0032923','Focal impaired awareness vocal automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.'),('HP:0032924','Focal impaired awareness verbal automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.'),('HP:0032925','Focal impaired awareness sexual automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.'),('HP:0032926','Focal impaired awareness head nodding automatism seizure','A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.'),('HP:0032927','Focal impaired awareness undressing automatism seizure','A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.'),('HP:0032928','Elevated CSF neurofilamant light chain','Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.'),('HP:0032929','Abnormal chondrocyte morphology','Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.'),('HP:0032930','Lacunar halos around chondrocytes','Concentric rings around the chondrocytes.'),('HP:0032931','obsolete Focal impaired awareness cognitive seizure with impaired attention',''),('HP:0032932','Increased circulating pancreatic triacylglycerol lipase level','An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).'),('HP:0032933','Airway hyperresponsiveness','An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.'),('HP:0032934','Spontaneous cerebrospinal fluid leak','A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).'),('HP:0032935','Posterior crocodile shagreen of the cornea','Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.'),('HP:0032936','Intrusion symptom','Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context.'),('HP:0032937','Recurrent, involuntary and intrusive distressing memories','After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind`s eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory.'),('HP:0032938','Recurrent trauma-related distressing dreams','Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events.'),('HP:0032939','Physiological reactivity to cues','Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).'),('HP:0032940','Dissociative reaction','A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration.'),('HP:0032941','Intense psychological distress to cues','Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.'),('HP:0032942','Avoidance of stimuli associated with traumatic event','Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).'),('HP:0032943','Abnormal urine pH','A deviation of urine pH from the normal range of 4.5 to 7.8.'),('HP:0032944','Alkaline urine','Urine pH of 8 or higher.'),('HP:0032945','Renal interstitial inflammation','Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.'),('HP:0032946','Renal cortical interstitial inflammation','Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.'),('HP:0032947','Renal medullary interstitial inflammation','Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.'),('HP:0032948','Renal interstitial fibrosis','The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.'),('HP:0032949','Renal interstitial calcium phosphate deposits','The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.'),('HP:0032950','Abnormal renal tubular lumen morphology','Abnormal structure or form of the lumen (opening) of kidney tubules.'),('HP:0032951','Renal tubular viral cytopathic changes','Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.'),('HP:0032952','Usual-type tubular atrophy','A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.'),('HP:0032953','Renal tubular cytomegalovirus inclusions','Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl`s eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.'),('HP:0032954','Renal tubular adenovirus inclusions','Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage.'),('HP:0032955','Renal tubular polyoma virus inclusions','Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.'),('HP:0032956','Renal tubular herpes simplex virus inclusions','Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.'),('HP:0032957','Dysmorphic hematuria','The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.'),('HP:0032958','Urinary oval fat bodies','The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.'),('HP:0032959','Intratubular calcium oxalate casts','Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.'),('HP:0032960','Intratubular calcium phosphate casts','Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.'),('HP:0032961','Magnesium ammonium phosphate crystalluria','Magnesium ammonium phosphate crystals in the urine.'),('HP:0032962','Tubular microcystic change','Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.'),('HP:0032963','Complex renal cyst','A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.'),('HP:0032964','Uric acid crystalluria','The presence of uric acid crystals in the urine.'),('HP:0032965','Interstitial emphysema','Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.'),('HP:0032966','Centrilobular emphysema','A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.'),('HP:0032967','Panacinar emphysema','Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.'),('HP:0032968','Expiratory air trapping','Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.'),('HP:0032969','Traction bronchiectasis','Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.'),('HP:0032970','Traction bronchiolectasis',''),('HP:0032971','Computed tomographic halo sign','CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.'),('HP:0032972','Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.'),('HP:0032973','Abnormal bronchoalveolar lavage fluid morphology','Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.'),('HP:0032974','Abnormal cellular composition of bronchoalveolar fluid','Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.'),('HP:0032975','Abnormal bronchoalveolar fluid protein level','Any deviation from the normal concentration of protein in the bronchoalveolar fluid.'),('HP:0032976','Elevated bronchoalveolar lavage fluid lymphocyte proportion','Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.'),('HP:0032977','Elevated bronchoalveolar lavage fluid neutrophil proportion','Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.'),('HP:0032978','Lipid-laden macrophages in bronchoalveolar fluid','Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.'),('HP:0032979','Hemosiderin-laden macrophages in bronchoalveolar fluid','Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).'),('HP:0032980','Absent bronchoalveolar surfactant-protein C','Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.'),('HP:0032981','Absent bronchoalveolar dimeric surfactant-protein B','Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.'),('HP:0032982','Intraalveolar phospholipid accumulation','In the space betweem alveolar macrophages, amorphous PAS-positive material, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.'),('HP:0032983','Atoll sign','CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.'),('HP:0032984','Abnormal alveolar macrophage morphology','Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.'),('HP:0032985','Dust particle inclusion in alveolar macrophages','Accumulation of inhaled, nondigestable particles in macrophages.'),('HP:0032986','Smoker-inclusions in alveolar macrophages','In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.'),('HP:0032987','Elevated bronchoalveolar lavage fluid eosinophil proportion','Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.'),('HP:0032988','Persistent head lag','The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.'),('HP:0032989','Delayed ability to roll over','Delayed ahcievement of the ability to roll front to back and back to front.'),('HP:0032990','Localized pulmonary hemorrhage','Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.'),('HP:0032991','Abnormal pulmonary fissure morphology','An abnormal form or number of the pulmonary fissures.'),('HP:0032992','Abnormal pulmonary fissure architecture','An abnormal form or location of a pulmonary fissure.'),('HP:0032993','Abnormal pulmonary fissure count','A deviation from the normal number of pulmonary fissures.'),('HP:0032994','Supernumerary pulmonary fissure','Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.'),('HP:0032995','Decreased pulmonary fissure count','Lack of one or more of the normal pulmonary fissures.'),('HP:0032996','Abnormal cystatin C level','Any deviation from the normal concentration of cystatin C in serum or plasma.'),('HP:0032997','Decreased cystatin C level','A decreased concentration of cystatin C in the blood circulation.'),('HP:0032998','Increased cystatin C level','A elevated concentration of cystatin C in the blood circulation.'),('HP:0032999','Increased fecal porphyrin','Abnormally high concentration of fecal porphyrins in feces.'),('HP:0033000','Subglottic laryngitis','Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.'),('HP:0033001','Laryngeal papilloma','A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.'),('HP:0033002','Bronchial papilloma','A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.'),('HP:0033003','Tracheal papilloma','A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.'),('HP:0033004','Palmar warts','Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).'),('HP:0033005','Plantar warts','Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).'),('HP:0033006','Diffuse alveolar damage','Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cells necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.'),('HP:0033007','Architectural distortion of the lung','Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.'),('HP:0033008','Increased Z-disc width','Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).'),('HP:0033009','Increased fecal coproporphyrin 1','Abnormally high concentration of coproporphyrin 3 in feces.'),('HP:0033010','Increased fecal coproporphyrin 3','Abnormally high concentration of coproporphyrin 3 in feces'),('HP:0033011','Platystencephaly','Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.'),('HP:0033012','Abnormal salivary metabolite concentration','Any deviation from the normal concentration of a metabolite in saliva.'),('HP:0033013','Abnormal salivary cortisol level','Any deviation from the normal concentration of cortisol in saliva.'),('HP:0033014','Decreased salivary cortisol level','Abnormally reduced concentration of cortisol in saliva.'),('HP:0033015','Increased salivary cortisol level','Abnormally elevated concentration of cortisol in saliva.'),('HP:0033016','Chronic decreased circulating IgD','A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.'),('HP:0033017','Transient decreased circulating IgD','A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.'),('HP:0033018','Chronic absent circulating IgD','A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.'),('HP:0033019','Male reproductive system neoplasm','A neoplasm that affects the male reproductive system.'),('HP:0033020','Female reproductive system neoplasm','A neoplasm that affects the female reproductive system.'),('HP:0033021','Transient decreased circulating IgE','A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.'),('HP:0033022','Chronic decreased circulating IgE','A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.'),('HP:0033023','Chronic absent circulating IgE','A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.'),('HP:0033024','Transient decreased circulating IgA','A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.'),('HP:0033025','Chronic absent circulating total IgG','A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.'),('HP:0033026','White oral mucosal macule','A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.'),('HP:0033027','Retinal peau d`orange','A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.'),('HP:0033029','Anti-Jo-1 antibody positivity','The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase.'),('HP:0040004','Abnormality of corneal shape',''),('HP:0040006','Mortality/Aging',''),('HP:0040007','Absent pigmentation of chest','Lack of skin pigmentation (coloring) of the chest.'),('HP:0040008','Aplasia of facial bones',''),('HP:0040009','Hyperparakeratosis','Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.'),('HP:0040010','Small posterior fossa',''),('HP:0040011','Flat posterior fossa',''),('HP:0040012','Chromosome breakage','Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.'),('HP:0040013','Decreased mitochondrial number',''),('HP:0040014','Increased mitochondrial number',''),('HP:0040015','Increased activity of mitochondrial respiratory chain',''),('HP:0040016','Prominent coccyx',''),('HP:0040017','Protruding coccyx',''),('HP:0040018','Clinodactyly of hallux',''),('HP:0040019','Finger clinodactyly',''),('HP:0040020','Radial deviation of the 5th finger',''),('HP:0040021','Radial deviation of the thumb',''),('HP:0040022','Clinodactyly of the 2nd finger',''),('HP:0040023','Clinodactyly of the thumb',''),('HP:0040024','Clinodactyly of the 3rd finger',''),('HP:0040025','Clinodactyly of the 4th finger',''),('HP:0040030','Chorioretinal hypopigmentation',''),('HP:0040031','Chorioretinal hyperpigmentation',''),('HP:0040032','Hypoplasia of the upper eyelids',''),('HP:0040033','Aplasia/Hypoplasia of the fifth metatarsal bone',''),('HP:0040034','Abnormality of the second metatarsal bone',''),('HP:0040035','Abnormality of the fourth metatarsal bone',''),('HP:0040036','Onychogryposis of fingernail','Thickened fingernails.'),('HP:0040037','obsolete Thin fingernail (obsolete)',''),('HP:0040038','obsolete Thin toenail',''),('HP:0040039','Onycholysis of fingernails',''),('HP:0040040','Toenail onycholysis','Painless and spontaneous separation of a toenail from the nail bed.'),('HP:0040042','Aplasia of the eccrine sweat glands',''),('HP:0040043','Hypoplasia of the eccrine sweat glands',''),('HP:0040044','Hypoplasia of the diaphragm',''),('HP:0040045','Abnormal hemidiaphragm morphology',''),('HP:0040046','Abnormal left hemidiaphragm morphology',''),('HP:0040047','Abnormal right hemidiaphragm morphology',''),('HP:0040048','obsolete Aplasia of the left hemidiaphragm',''),('HP:0040049','Macular edema','Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.'),('HP:0040050','Sparse upper eyelashes',''),('HP:0040051','Abnormality of upper eyelashes',''),('HP:0040052','Abnormality of lower eyelashes',''),('HP:0040053','Long lower eyelashes',''),('HP:0040054','Short upper eyelashes',''),('HP:0040055','Short lower eyelashes',''),('HP:0040056','Absent upper eyelashes',''),('HP:0040057','Abnormality of nasal hair',''),('HP:0040059','Calcification of ribs',''),('HP:0040061','Osteosclerosis of the radius',''),('HP:0040062','Slender radius',''),('HP:0040063','Decreased adipose tissue',''),('HP:0040064','Abnormality of limbs',''),('HP:0040065','obsolete Abnormal morphology of bones of the upper limbs',''),('HP:0040066','obsolete Abnormal morphology of bones of the lower limbs',''),('HP:0040068','Abnormality of limb bone',''),('HP:0040069','Abnormal lower limb bone morphology',''),('HP:0040070','Abnormal upper limb bone morphology',''),('HP:0040071','Abnormal morphology of ulna',''),('HP:0040072','Abnormality of forearm bone',''),('HP:0040073','Abnormal forearm bone morphology',''),('HP:0040075','Hypopituitarism',''),('HP:0040077','obsolete Abnormal concentration of calcium in blood',''),('HP:0040078','Axonal degeneration',''),('HP:0040079','Irregular dentition',''),('HP:0040080','Anteverted ears',''),('HP:0040081','Abnormal circulating creatine kinase concentration','Any deviation from the normal circulating creatine kinase concentration.'),('HP:0040082','Happy demeanor','A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.'),('HP:0040083','Toe walking',''),('HP:0040084','Abnormal circulating renin','A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.'),('HP:0040085','Abnormal circulating aldosterone',''),('HP:0040086','Abnormal prolactin level',''),('HP:0040087','Abnormal blood folate concentration','Any deviation from the normal concentration of folate in the blood circulation.'),('HP:0040088','Abnormal lymphocyte count','Any abnormality in the total number of lymphocytes in the blood.'),('HP:0040089','Abnormal natural killer cell count','Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.'),('HP:0040090','Abnormality of the tympanic membrane','An abnormality of the tympanic membrane'),('HP:0040091','Asymmetry of the size of ears',''),('HP:0040092','Asymmetry of the shape of the ears',''),('HP:0040093','Asymmetry of the position of the ears',''),('HP:0040095','Neoplasm of the outer ear','A tumor (abnormal growth of tissue) of the outer ear.'),('HP:0040096','Neoplasm of the inner ear','A tumor (abnormal growth of tissue) of the inner ear.'),('HP:0040097','Neoplasm of the ceruminal gland','A tumor (abnormal growth of tissue) of the ceruminal gland.'),('HP:0040098','Basalioma of the outer ear',''),('HP:0040099','Abnormality of the round window',''),('HP:0040100','Abnormality of the vestibular window',''),('HP:0040101','Cutaneous atresia of the external auditory canal',''),('HP:0040102','Osseous atresia of the external auditory canal',''),('HP:0040103','Cutaneous stenosis of the external auditory canal',''),('HP:0040104','Osseous stenosis of the external auditory canal',''),('HP:0040106','Morphological abnormality of the lateral semicircular canal',''),('HP:0040107','Morphological abnormality of the posterior semicircular canal',''),('HP:0040108','Morphological abnormality of the anterior semicircular canal',''),('HP:0040109','Morphological abnormality of the utricle',''),('HP:0040110','Morphological abnormality of the saccule',''),('HP:0040111','Bilateral external ear deformity',''),('HP:0040112','Abnormal number of tubercles',''),('HP:0040113','Old-aged sensorineural hearing impairment',''),('HP:0040114','Absence of the reflex of the tensor tympani muscle',''),('HP:0040115','Abnormality of the Eustachian tube',''),('HP:0040116','Aplasia of the Eustachian tube',''),('HP:0040117','Atresia of the Eustachian tube',''),('HP:0040118','Stenosis of the Eustachian tube',''),('HP:0040119','Unilateral conductive hearing impairment',''),('HP:0040120','Abnormality of the reflex of the tensor tympani muscle',''),('HP:0040121','Abnormality of the acoustic reflex','An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.'),('HP:0040122','Impairment of the the acoustic reflex',''),('HP:0040123','Impairment of the reflex of the tensor tympani muscle',''),('HP:0040124','Patent tuba eustachii',''),('HP:0040126','Abnormal vitamin B12 level','A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.'),('HP:0040127','Abnormal sweat homeostasis','An abnormality of the composition of sweat or the levels of its components.'),('HP:0040128','Abnormal sweat electrolytes',''),('HP:0040129','Abnormal nerve conduction velocity',''),('HP:0040130','Abnormal serum iron concentration',''),('HP:0040131','Abnormal motor nerve conduction velocity',''),('HP:0040132','Abnormal sensory nerve conduction velocity',''),('HP:0040133','Abnormal serum ferritin','A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.'),('HP:0040134','Abnormal hepatic iron concentration',''),('HP:0040135','Abnormal transferrin saturation','Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.'),('HP:0040137','Comedonal acne','A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.'),('HP:0040138','Mucinous histiocytosis','Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.'),('HP:0040139','Lipogranulomatosis','Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.'),('HP:0040140','Degeneration of the striatum',''),('HP:0040141','Tardive dyskinesia',''),('HP:0040142','Reduced 5-oxoprolinase level','Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.'),('HP:0040143','Dystopic os odontoideum','Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus'),('HP:0040144','L-2-hydroxyglutaric aciduria','An increase in the level of L-2-hydroxyglutaric acid in the urine.'),('HP:0040145','Dicarboxylic acidemia',''),('HP:0040146','D-2-hydroxyglutaric acidemia',''),('HP:0040147','L-2-hydroxyglutaric acidemia',''),('HP:0040148','Cortical myoclonus',''),('HP:0040149','Woolly scalp hair','The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.'),('HP:0040150','Epiblepharon of upper lid',''),('HP:0040151','Epiblepharon of lower lid',''),('HP:0040154','Acne inversa','A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.'),('HP:0040155','Elevated urinary 3-hydroxybutyric acid','An increased amount of 3-hydroxybutyric acid in the urine.'),('HP:0040156','Elevated urinary carboxylic acid','An increased amount of carboxylic acid in the urine.'),('HP:0040157','Abnormal intermamillary distance',''),('HP:0040158','Short intermamillary distance',''),('HP:0040159','Abnormal spaced incisors',''),('HP:0040160','Generalized osteoporosis',''),('HP:0040161','Localized osteoporosis',''),('HP:0040162','Orthokeratosis','Formation of an anuclear keratin layer'),('HP:0040163','Abnormal pelvis bone morphology',''),('HP:0040164','Lipomas of eyelids','Fatty tumors on the eyelids.'),('HP:0040165','Periostitis','Inflammation of the periosteum'),('HP:0040166','Abnormality of the periosteum',''),('HP:0040167','Facial papilloma',''),('HP:0040168','Focal seizures, afebril',''),('HP:0040169','Loose anagen hair',''),('HP:0040170','Abnormality of hair growth',''),('HP:0040171','Decreased serum testosterone level',''),('HP:0040172','Abnormality of occipitofrontalis muscle',''),('HP:0040173','Abnormality of the tongue muscle',''),('HP:0040174','Abnormality of extrinsic muscle of tongue',''),('HP:0040175','Platelet-activating factor acetylhydrolase deficiency','Reduced level of platelet-activating factor acetylhydrolase.'),('HP:0040176','Abnormal circulating phospholipid concentration','Any deviation from the normal concentration of a phospholipid in the blood circulation.'),('HP:0040177','Abnormal level of platelet-activating factor',''),('HP:0040178','Increased level of platelet-activating factor',''),('HP:0040179','Decreased level of platelet-activating factor',''),('HP:0040180','Hyperkeratosis pilaris',''),('HP:0040181','Chapped lip','Cracking, fissuring, and peeling of the skin of the lips.'),('HP:0040182','Inappropriate sinus tachycardia','Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.'),('HP:0040183','Encopresis',''),('HP:0040184','Oral bleeding',''),('HP:0040185','Macrothrombocytopenia',''),('HP:0040186','Maculopapular exanthema','A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.'),('HP:0040187','Neonatal sepsis','Systemic inflammatory response to infection in newborn babies.'),('HP:0040188','Osteochondrosis','Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.'),('HP:0040189','Scaling skin','Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.'),('HP:0040190','White scaling skin',''),('HP:0040191','Rectus femoris muscle atrophy',''),('HP:0040192','APUdoma','An endocrine tumor arising from an APUD cell.'),('HP:0040193','obsolete Pinealoblastoma',''),('HP:0040194','Increased head circumference','An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.'),('HP:0040195','Decreased head circumference','An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.'),('HP:0040196','Mild microcephaly','Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).'),('HP:0040197','Encephalomalacia','Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.'),('HP:0040198','Non-medullary thyroid carcinoma',''),('HP:0040199','obsolete Flat midface',''),('HP:0040200','Motor impersistence','The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged `ah` sound) without repeated prompts.'),('HP:0040201','Simultanapraxia','A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.'),('HP:0040202','Abnormal consumption behavior',''),('HP:0040203','Abnormal CSF neopterin level','Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).'),('HP:0040204','Elevated CSF neopterin level','Increased concentration of neopterin in the cerebrospinal fluid (CSF).'),('HP:0040205','Decreased CSF neopterin level','Decreased concentration of neopterin in the cerebrospinal fluid (CSF).'),('HP:0040206','Abnormal circulating neopterin concentration','Any deviation from the normal concentration of neopterin in the blood circulation.'),('HP:0040207','Abnormal CSF biopterin level','Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).'),('HP:0040208','Elevated CSF biopterin level','Increased concentration of biopterin in the cerebrospinal fluid (CSF).'),('HP:0040209','Decreased CSF biopterin level','Decreased concentration of biopterin in the cerebrospinal fluid (CSF).'),('HP:0040210','Abnormal circulating biopterin concentration','A deviation from the normal concentration of biopterin in the blood circulation.'),('HP:0040211','Abnormal skin morphology of the palm','An abnormality of the skin of the palm, that is, the skin of the front of the hand.'),('HP:0040212','Risus sardonicus','Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.'),('HP:0040213','Hypopnea','Hypopnea is referring to breathing that is abnormally shallow.'),('HP:0040214','Abnormal insulin level','An abnormal concentration of insulin in the body.'),('HP:0040215','Abnormal circulating insulin level','An abnormal concentration of insulin in the blood.'),('HP:0040216','Hypoinsulinemia','A decreased concentration of insulin in the blood.'),('HP:0040217','Elevated hemoglobin A1c','An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.'),('HP:0040218','Reduced natural killer cell count','Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.'); +INSERT INTO `Symptoms` VALUES ('HP:0040219','Absent natural killer cells','Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.'),('HP:0040220','Abnormal size of the dental root',''),('HP:0040221','Hypoplasia of the dental root',''),('HP:0040222','Maternal thrombophilia','An increased tendency towards thrombosis in the mother during a pregnancy.'),('HP:0040223','Pulmonary hemorrhage','Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.'),('HP:0040224','Abnormality of fibrinolysis','Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)'),('HP:0040225','Decrease in high molecular weight von Willebrand factor Multimers','A decrease in high molecular weight von Willebrand factor multimers.'),('HP:0040226','Decreased level of heparin co-factor II','An abnormality of coagulation related to a decreased concentration of heparin co-factor II'),('HP:0040227','Decreased level of histidine-rich glycoprotein','Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation'),('HP:0040228','Decreased level of plasminogen','A decreased level of Plasminogen'),('HP:0040229','Decreased level of thrombomodulin','Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot'),('HP:0040230','Decreased level of tissue plasminogen activator','The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis'),('HP:0040231','Abnormal onset of bleeding',''),('HP:0040232','Delayed onset bleeding','Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.'),('HP:0040233','Factor XIII subunit A deficiency','Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.'),('HP:0040234','Factor XIII subunit B deficiency','Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.'),('HP:0040235','Leukocyte inclusion bodies','The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.'),('HP:0040236','Hyperfibrinolysis','Increased degradation of fibrin, associated with clot instability and bleeding'),('HP:0040237','Impaired binding of factor VIII to VWF','Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.'),('HP:0040238','Impaired neutrophil chemotaxis','An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response'),('HP:0040239','Increased plasma vitamin K epoxide after vitamin K supplementation','Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.'),('HP:0040240','Increased ratio of VWF propeptide to VWF antigen','An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.'),('HP:0040241','Increased RIPA','Increased platelet agglutination in response to low-dose ristocetin'),('HP:0040242','Muscle hemorrhage','Bleeding occuring within a muscle'),('HP:0040243','Prolonged euglobulin clot lysis time','Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.'),('HP:0040244','Prolonged Russell`s viper venom time','Increased time to coagulation in the Russell`s viper venom assay'),('HP:0040245','Reduced alpha-2-antiplasmin activity','Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.'),('HP:0040246','Reduced antithrombin antigen','Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.'),('HP:0040247','Reduced euglobulin clot lysis time','Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.'),('HP:0040248','Reduced plasminogen activator inhibitor 1 activity','Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.'),('HP:0040249','Reduced plasminogen activator inhibitor 1 antigen','Reduced level of plasminogen activator inhibitor 1 antigen.'),('HP:0040250','Reduced prothrombin antigen','Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.'),('HP:0040251','Hand dimple','A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.'),('HP:0040252','Abnormal size of the clitoris',''),('HP:0040253','Increased size of the clitoris',''),('HP:0040254','Decreased size of the clitoris',''),('HP:0040255','Aplasia/Hypoplasia of the clitoris',''),('HP:0040256','Aplastic/Hypoplastic nasopharyngeal adenoids','Absence or underdevelopment of the nasopharyngeal adenoids.'),('HP:0040257','Abnormal size of nasopharyngeal adenoids','A deviation in the size of nasopharyngeal adenoids.'),('HP:0040258','Hypoplastic nasopharyngeal adenoids','Underdevelopment of the nasopharyngeal adenoids.'),('HP:0040259','Aplastic nasopharyngeal adenoids','Absence of the nasopharyngeal adenoids as a developmental defect.'),('HP:0040260','Decreased size of nasopharyngeal adenoids','An abnormal decrease in the size of nasopharyngeal adenoids.'),('HP:0040261','Increased size of nasopharyngeal adenoids','An abnormal increase in the size of nasopharyngeal adenoids.'),('HP:0040262','Glue ear','Middle ear is filled with glue-like fluid instead of air.'),('HP:0040263','Jaw ankylosis',''),('HP:0040264','Jaw pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.'),('HP:0040265','Upper limb muscle hypertrophy',''),('HP:0040266','Proximal upper limb muscle hypertrophy',''),('HP:0040267','Distal upper limb muscle hypertrophy',''),('HP:0040268','Recurrent infections of the middle ear','Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections'),('HP:0040269','Blocked Eustachian tube',''),('HP:0040270','Impaired glucose tolerance','An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.'),('HP:0040272','Hyperintensity of MRI T2 signal of the spinal cord','A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.'),('HP:0040273','Adenocarcinoma of the intestines','A malignant epithelial tumor with a glandular organization that originates in the intestines.'),('HP:0040274','Adenocarcinoma of the small intestine','A malignant epithelial tumor with a glandular organization that originates in the small intestine.'),('HP:0040275','Adenocarcinoma of the large intestine','A malignant epithelial tumor with a glandular organization that originates in the large intestine.'),('HP:0040276','Adenocarcinoma of the colon',''),('HP:0040277','Neoplasm of the pituitary gland',''),('HP:0040278','Prolactinoma','A benign tumor (adenoma) of the pituitary gland'),('HP:0040279','Frequency','Class to represent frequency of phenotypic abnormalities within a patient cohort.'),('HP:0040280','Obligate','Always present, i.e. in 100% of the cases.'),('HP:0040281','Very frequent','Present in 80% to 99% of the cases.'),('HP:0040282','Frequent','Present in 30% to 79% of the cases.'),('HP:0040283','Occasional','Present in 5% to 29% of the cases.'),('HP:0040284','Very rare','Present in 1% to 4% of the cases.'),('HP:0040285','Excluded','Present in 0% of the cases.'),('HP:0040286','Abnormal axial muscle morphology','A structural anomaly of the muscles of the trunk and head.'),('HP:0040287','Axial muscle atrophy',''),('HP:0040288','Nasogastric tube feeding','The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.'),('HP:0040289','Cyclic neutropenia','Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).'),('HP:0040290','obsolete Abnormality of skeletal muscles',''),('HP:0040291','Skeletal muscle steatosis',''),('HP:0040292','Left hemiplegia',''),('HP:0040293','Right hemiplegia',''),('HP:0040294','Duplicated tongue',''),('HP:0040295','Duplication of the upper lip',''),('HP:0040296','Abnormal location of the eyebrow',''),('HP:0040297','Preauricular cyst','Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.'),('HP:0040298','Hyperplasia of the endometrium',''),('HP:0040299','Decreased circulating free fatty acid level',''),('HP:0040300','Abnormal circulating free fatty acid concentration','Any deviation from the normal concentration of a free fatty acid in the blood circulation.'),('HP:0040301','Increased urinary glycerol','An increased concentration of glycerol in the urine.'),('HP:0040302','Hyperglycerolemia','Increased concentration of glycerol in the blood.'),('HP:0040303','Decreased serum iron',''),('HP:0040304','Duplication of the sella turcica',''),('HP:0040305','Increased male libido','Increased desire for sexual activity on the part of a male.'),('HP:0040306','Decreased male libido','Reduced desire for sexual activity on the part of a male.'),('HP:0040307','Male sexual dysfunction','A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity'),('HP:0040308','Male anorgasmia','Inability of a male to reach orgasm.'),('HP:0040309','Increased size of the mandible',''),('HP:0040310','Sterile arthritis','An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.'),('HP:0040311','Symetrical distal arthritis',''),('HP:0040312','Temporomandibular arthritis',''),('HP:0040313','Oligoarthritis','A type of arthritis that affects up to four joints in the first six months of disease.'),('HP:0040314','Blind vagina','The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.'),('HP:0040315','Tongue edema','An abnormal accumulation of fluid and swelling in the tongue.'),('HP:0040316','obsolete Aplasia of the penis',''),('HP:0040317','Blue urine','An abnormal blue color of the urine.'),('HP:0040318','Red urine','An abnormal red color of the urine.'),('HP:0040319','Dark urine','An abnormal dark color of the urine.'),('HP:0040320','Red-brown urine','An abnormal red-brown color of the urine.'),('HP:0040321','Dark yellow urine','An abnormal dark-yellow color of the urine.'),('HP:0040322','Purple urine','An abnormal purple color of the urine.'),('HP:0040323','Erythema of the eyelids','Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0040324','Heliotrope rash','In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.'),('HP:0040325','Bull`s eye rash','A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.'),('HP:0040326','Hypoplasia of the olfactory bulb','Underdevelopment of the olfactory bulb.'),('HP:0040327','Abnormal morphology of the olfactory bulb','An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.'),('HP:0040328','Focal hyperintensity of cerebral white matter on MRI','An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.'),('HP:0040329','Multifocal hyperintensity of cerebral white matter on MRI','An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.'),('HP:0040330','Confluent hyperintensity of cerebral white matter on MRI','Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.'),('HP:0040331','Focal hypointensity of cerebral white matter on MRI',''),('HP:0040332','Multifocal hypointensity of cerebral white matter on MRI',''),('HP:0040333','Confluent hypointensity of cerebral white matter on MRI',''),('HP:0040334','Purulent rhinitis','Chronic rhinitis accompanied by pus formation.'),('HP:0041042','Absent neutrophil lactoferrin','The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.'),('HP:0041043','Neutrophil nuclear clefts','An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.'),('HP:0041044','Low neutrophil alkaline phosphatase','An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.'),('HP:0041045','Increased neutrophil mitochondria','An increased number of mitochondria detected in neutrophils.'),('HP:0041046','Increased neutrophil ribosomes','An increased number of ribosomes detected in neutrophils.'),('HP:0041047','Bladder outlet obstruction','A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).'),('HP:0041048','Decreased expression of GPI-anchored proteins on the cell surface','A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.'),('HP:0041049','Starch intolerance','An inability to digest starch.'),('HP:0041050','Renal tubular cyst','Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.'),('HP:0041051','Ageusia','A rare condition that is characterized by a complete loss of taste function of the tongue.'),('HP:0045001','Abnormal ossification of the trapezium',''),('HP:0045002','Absent ossification of the trapezium',''),('HP:0045003','Abnormal ossification of the scaphoid',''),('HP:0045004','Abnormal ossification of the trapezoid bone',''),('HP:0045005','Neural tube defect','A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.'),('HP:0045006','Aplasia of lymphatic vessels','Aplasia (absence) of the lymphatic vessels.'),('HP:0045007','Abnormality of the substantia nigra',''),('HP:0045008','Abnormal shape of the radius',''),('HP:0045009','Abnormal morphology of the radius',''),('HP:0045010','Abnormality of peripheral nerves',''),('HP:0045011','Decreased urine bicarbonate concentration','Abnormally decreased concentration of hydrogencarbonate in the urine.'),('HP:0045012','Decreased urinary catecholamine concentration',''),('HP:0045013','obsolete Decreased urinary glucose concentration',''),('HP:0045014','Hypolipidemia',''),('HP:0045016','obsolete Elevated serum long-chain fatty acids',''),('HP:0045017','Congenital malformation of the left heart','Defect or defects of the morphogenesis of the left heart identifiable at birth.'),('HP:0045018','Partial duplication of eyebrows',''),('HP:0045025','Narrow palpebral fissure','Reduction in the vertical distance between the upper and lower eyelids.'),('HP:0045026','Abnormality of the mediastinum',''),('HP:0045027','Abnormality of the thoracic cavity',''),('HP:0045028','Microlissencephaly','Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.'),('HP:0045029','Eosinophilic fasciitis','Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.'),('HP:0045034','Elevated urinary aminoisobutyric acid','An increased amount of 3-aminoisobutyric acid in the urine.'),('HP:0045035','Decreased urinary copper concentration',''),('HP:0045036','Abnormal urinary copper concentration',''),('HP:0045037','Abnormality of jaw muscles',''),('HP:0045038','Gastric lymphoma','Lymphoma that originates in the stomach itself.'),('HP:0045039','Osteolysis involving bones of the upper limbs',''),('HP:0045040','Abnormal lactate dehydrogenase level','A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.'),('HP:0045041','Reduced lactate dehydrogenase B level','A decreased or reduced level of the enzyme lactate dehydrogenase in serum.'),('HP:0045042','Decreased serum complement C4','A reduced level of the complement component C4 in the circulation.'),('HP:0045043','Decreased serum complement C4a','A reduced level of the complement component C4a in circulation.'),('HP:0045044','Decreased serum complement C4b','A reduced level of the complement component C4b in circulation.'),('HP:0045045','Elevated plasma acylcarnitine levels',''),('HP:0045046','Reduced insulin like growth factor binding protein acid labile subunit level','Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits.'),('HP:0045047','HbS hemoglobin','Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.'),('HP:0045048','Increased HbA2 hemoglobin','An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.'),('HP:0045049','Abnormal DLCO','An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.'),('HP:0045050','Increased DLCO','Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.'),('HP:0045051','Decreased DLCO','Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.'),('HP:0045052','Abnormality of the brachial nerve plexus','Any abnormality of the brachial nerve plexus.'),('HP:0045053','Abnormality of the lumbosacral nerve plexus','Any abnormality of the lumbosacral nerve plexus.'),('HP:0045054','Brachial plexus neuropathy',''),('HP:0045055','Tiger tail banding','An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.'),('HP:0045056','Abnormal levels of alpha-fetoprotein',''),('HP:0045057','Decreased levels of alpha-fetoprotein','A decrease in the concentration of alpha-fetoprotein in the blood circulation.'),('HP:0045058','Abnormality of the testis size','An anomaly of the size of the testicle (the male gonad).'),('HP:0045059','Hyperkeratotic papule','A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).'),('HP:0045060','Aplasia/hypoplasia involving bones of the extremities',''),('HP:0045061','Decreased carnitine level in liver',''),('HP:0045063','Increased PIVKA-II','Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.'),('HP:0045073','Serositis','Inflammation in any serous cavity.'),('HP:0045074','Thin eyebrow','Decreased diameter of eyebrow hairs.'),('HP:0045075','Sparse eyebrow','Decreased density/number of eyebrow hairs.'),('HP:0045079','Distal femoral metaphyseal irregularity','Irregularity of the normally smooth surface of the distal metaphysis of the femur.'),('HP:0045080','Decreased proportion of CD3-positive T cells','Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.'),('HP:0045081','Abnormality of body mass index','Anomaly in the weight-to-height squared ratio, calculated by dividing the individual`s weight in kilograms by the square of the individual`s height in meters and used as an indicator of obesity and underweight compared to averages.'),('HP:0045082','Decreased body mass index','Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual`s weight in kilograms by the square of the individual`s height in meters and used as an indicator of underweight compared to averages.'),('HP:0045083','obsolete Increased body mass index',''),('HP:0045084','Limb myoclonus',''),('HP:0045085','Atrophy of masseter muscle',''),('HP:0045086','Knee joint hypermobility','The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).'),('HP:0045087','Hip joint hypermobility',''),('HP:0045088','Clinical relevance','Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis.'),('HP:0045089','Distinctive finding','In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential.'),('HP:0045090','Minor finding','In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential.'),('HP:0046502','Anorgasmia','Inability of individual to reach orgasm.'),('HP:0046503','Increased libido','Elevated sexual desire.'),('HP:0046504','Decreased libido','Decreased sexual desire.'),('HP:0046505','Hand pain','An unpleasant sensation characterized by physical discomfort localized to the hand.'),('HP:0046506','Pain in head and neck region',''),('HP:0046507','Bradypnea','Bradypnea is referring to breathing that is abnormally slow.'),('HP:0046508','Abnormal cervical spine morphology','Any morphological abnormality of the cervical vertebral column.'),('HP:0100000','Early onset of sexual maturation','An early onset of puberty, in this case early does not refer to precocious.'),('HP:0100001','Malignant mesothelioma','Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body`s internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.'),('HP:0100002','Pleural mesothelioma','A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.'),('HP:0100003','Peritoneal mesothelioma','A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.'),('HP:0100004','Pericardial mesothelioma','A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).'),('HP:0100005','Testicular mesothelioma','A Malignant mesothelioma of the testis.'),('HP:0100006','Neoplasm of the central nervous system','A neoplasm of the central nervous system.'),('HP:0100007','Neoplasm of the peripheral nervous system','A benign or malignant neoplasm (tumour) of the peripheral nervous system.'),('HP:0100008','Schwannoma','A benign nerve sheath tumor composed of Schwann cells.'),('HP:0100009','Intracranial meningioma',''),('HP:0100010','Spinal meningioma',''),('HP:0100011','Scleral schwannoma',''),('HP:0100012','Neoplasm of the eye','A tumor (abnormal growth of tissue) of the eye.'),('HP:0100013','Neoplasm of the breast','A tumor (abnormal growth of tissue) of the breast.'),('HP:0100014','Epiretinal membrane','An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.'),('HP:0100015','Stahl ear','The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.'),('HP:0100016','Abnormality of mesentery morphology','Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).'),('HP:0100017','Capsular cataract','A cataract that affects the capsule of the lens.'),('HP:0100018','Nuclear cataract','A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.'),('HP:0100019','Cortical cataract','A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.'),('HP:0100020','Posterior capsular cataract','A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.'),('HP:0100021','Cerebral palsy','Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.'),('HP:0100022','Abnormality of movement','An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.'),('HP:0100023','Recurrent hand flapping','A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.'),('HP:0100024','Conspicuously happy disposition','An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.'),('HP:0100025','Overfriendliness','A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.'),('HP:0100026','Arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.'),('HP:0100027','Recurrent pancreatitis','A recurrent form of pancreatitis.'),('HP:0100028','Ectopic thyroid','Mislocalised thyroid gland.'),('HP:0100029','Lingual thyroid','An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.'),('HP:0100030','Accessory ectopic thyroid tissue','Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.'),('HP:0100031','Neoplasm of the thyroid gland','A tumor (abnormal growth of tissue) of the thyroid gland.'),('HP:0100033','Tics','Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.'),('HP:0100034','Motor tics','Movement-based tics affecting discrete muscle groups.'),('HP:0100035','Phonic tics','Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.'),('HP:0100036','Pseudo-fractures','A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.'),('HP:0100037','Abnormality of the scalp hair','An abnormality of the hair of head.'),('HP:0100038','Slow-growing scalp hair','Scalp hair whose growth is slower than normal.'),('HP:0100039','Thickened cortex of bones','An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.'),('HP:0100040','Broad 2nd toe','A broad appearance of the second toe.'),('HP:0100041','Broad 3rd toe','A broad appearance of the third toe.'),('HP:0100042','Broad 4th toe','A broad appearance of the fourth toe.'),('HP:0100043','Broad 5th toe','A broad appearance of the fifth toe.'),('HP:0100044','Absent epiphyses of the 2nd toe',''),('HP:0100045','Bracket epiphyses of the 2nd toe',''),('HP:0100046','Cone-shaped epiphyses of the 2nd toe',''),('HP:0100047','Enlarged epiphyses of the 2nd toe',''),('HP:0100048','Fragmentation of the epiphyses of the 2nd toe',''),('HP:0100049','Irregular epiphyses of the 2nd toe',''),('HP:0100050','Ivory epiphyses of the 2nd toe','Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100051','Pseudoepiphyses of the 2nd toe',''),('HP:0100052','Small epiphyses of the 2nd toe',''),('HP:0100053','Stippling of the epiphyses of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.'),('HP:0100054','Triangular epiphyses of the 2nd toe',''),('HP:0100055','Absent epiphyses of the 3rd toe',''),('HP:0100056','Bracket epiphyses of the 3rd toe',''),('HP:0100057','Cone-shaped epiphyses of the 3rd toe',''),('HP:0100058','Enlarged epiphyses of the 3rd toe',''),('HP:0100059','Fragmentation of the epiphyses of the 3rd toe',''),('HP:0100060','Irregular epiphyses of the 3rd toe',''),('HP:0100061','Ivory epiphyses of the 3rd toe','Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100062','Pseudoepiphyses of the 3rd toe',''),('HP:0100063','Small epiphyses of the 3rd toe',''),('HP:0100064','Stippling of the epiphyses of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.'),('HP:0100065','Triangular epiphyses of the 3rd toe',''),('HP:0100066','Absent epiphyses of the 4th toe',''),('HP:0100067','Bracket epiphyses of the 4th toe',''),('HP:0100068','Cone-shaped epiphyses of the 4th toe',''),('HP:0100069','Enlarged epiphyses of the 4th toe',''),('HP:0100070','Fragmentation of the epiphyses of the 4th toe',''),('HP:0100071','Irregular epiphyses of the 4th toe',''),('HP:0100072','Ivory epiphyses of the 4th toe','Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100073','Pseudoepiphyses of the 4th toe',''),('HP:0100074','Small epiphyses of the 4th toe',''),('HP:0100075','Stippling of the epiphyses of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.'),('HP:0100076','Triangular epiphyses of the 4th toe',''),('HP:0100077','Absent epiphyses of the 5th toe',''),('HP:0100078','Bracket epiphyses of the 5th toe',''),('HP:0100079','Cone-shaped epiphyses of the 5th toe',''),('HP:0100080','Enlarged epiphyses of the 5th toe',''),('HP:0100081','Fragmentation of the epiphyses of the 5th toe',''),('HP:0100082','Irregular epiphyses of the 5th toe',''),('HP:0100083','Ivory epiphyses of the 5th toe','Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100084','Pseudoepiphyses of the 5th toe',''),('HP:0100085','Small epiphyses of the 5th toe',''),('HP:0100086','Stippling of the epiphyses of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.'),('HP:0100087','Triangular epiphyses of the 5th toe',''),('HP:0100088','Abnormality of the epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100089','Abnormality of the epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100090','Abnormality of the epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100091','Abnormality of the epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100092','Abnormality of the epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100093','Abnormality of the epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100094','Abnormality of the epiphysis of the distal phalanx of the 4th toe',''),('HP:0100095','Abnormality of the epiphysis of the middle phalanx of the 4th toe',''),('HP:0100096','Abnormality of the epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100097','Abnormality of the epiphysis of the distal phalanx of the 5th toe',''),('HP:0100098','Abnormality of the epiphysis of the middle phalanx of the 5th toe',''),('HP:0100099','Abnormality of the epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100100','Absent epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100101','Bracket epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100102','Cone-shaped epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100103','Enlarged epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100104','Fragmentation of the epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100105','Irregular epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100106','Ivory epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100107','Pseudoepiphysis of the distal phalanx of the 2nd toe',''),('HP:0100108','Small epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100109','Stippling of the epiphysis of the distal phalanx of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.'),('HP:0100110','Triangular epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100111','Absent epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100112','Bracket epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100113','Cone-shaped epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100114','Enlarged epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100115','Fragmentation of the epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100116','Irregular epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100117','Ivory epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100118','Pseudoepiphysis of the middle phalanx of the 2nd toe',''),('HP:0100119','Small epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100120','Stippling of the epiphysis of the middle phalanx of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.'),('HP:0100121','Triangular epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100122','Absent epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100123','Bracket epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100124','Cone-shaped epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100125','Enlarged epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100126','Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100127','Irregular epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100128','Ivory epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100129','Pseudoepiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100130','Small epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100131','Stippling of the epiphysis of the proximal phalanx of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.'),('HP:0100132','Triangular epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100133','Abnormality of the pubic hair','Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.'),('HP:0100134','Abnormality of the axillary hair','Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.'),('HP:0100135','Absent epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100136','Bracket epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100137','Cone-shaped epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100138','Enlarged epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100139','Fragmentation of the epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100140','Irregular epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100141','Ivory epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100142','Pseudoepiphysis of the distal phalanx of the 3rd toe',''),('HP:0100143','Small epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100144','Stippling of the epiphysis of the distal phalanx of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.'),('HP:0100145','Triangular epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100146','Absent epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100147','Bracket epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100148','Cone-shaped epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100149','Enlarged epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100150','Fragmentation of the epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100151','Irregular epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100152','Ivory epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100153','Pseudoepiphysis of the middle phalanx of the 3rd toe',''),('HP:0100154','Small epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100155','Stippling of the epiphysis of the middle phalanx of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.'),('HP:0100156','Triangular epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100157','Absent epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100158','Bracket epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100159','Cone-shaped epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100160','Enlarged epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100161','Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100162','Irregular epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100163','Ivory epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100164','Pseudoepiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100165','Small epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100166','Stippling of the epiphysis of the proximal phalanx of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.'),('HP:0100167','Triangular epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100168','Fragmented epiphyses','Fragmented appearance of the epiphyses.'),('HP:0100169','Absent epiphysis of the distal phalanx of the 4th toe',''),('HP:0100170','Bracket epiphysis of the distal phalanx of the 4th toe',''),('HP:0100171','Cone-shaped epiphysis of the distal phalanx of the 4th toe',''),('HP:0100172','Enlarged epiphysis of the distal phalanx of the 4th toe',''),('HP:0100173','Fragmentation of the epiphysis of the distal phalanx of the 4th toe',''),('HP:0100174','Irregular epiphysis of the distal phalanx of the 4th toe',''),('HP:0100175','Ivory epiphysis of the distal phalanx of the 4th toe',''),('HP:0100176','Pseudoepiphysis of the distal phalanx of the 4th toe',''),('HP:0100177','Small epiphysis of the distal phalanx of the 4th toe',''),('HP:0100178','Stippling of the epiphysis of the distal phalanx of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.'),('HP:0100179','Triangular epiphysis of the distal phalanx of the 4th toe',''),('HP:0100180','Absent epiphysis of the middle phalanx of the 4th toe',''),('HP:0100181','Bracket epiphysis of the middle phalanx of the 4th toe',''),('HP:0100182','Cone-shaped epiphysis of the middle phalanx of the 4th toe',''),('HP:0100183','Enlarged epiphysis of the middle phalanx of the 4th toe',''),('HP:0100184','Fragmentation of the epiphysis of the middle phalanx of the 4th toe',''),('HP:0100185','Irregular epiphysis of the middle phalanx of the 4th toe',''),('HP:0100186','Ivory epiphysis of the middle phalanx of the 4th toe',''),('HP:0100187','Pseudoepiphysis of the middle phalanx of the 4th toe',''),('HP:0100188','Small epiphysis of the middle phalanx of the 4th toe',''),('HP:0100189','Stippling of the epiphysis of the middle phalanx of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.'),('HP:0100190','Triangular epiphysis of the middle phalanx of the 4th toe',''),('HP:0100191','Absent epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100192','Bracket epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100193','Cone-shaped epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100194','Enlarged epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100195','Fragmentation of the epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100196','Irregular epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100197','Ivory epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100198','Pseudoepiphysis of the proximal phalanx of the 4th toe',''),('HP:0100199','Small epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100200','Stippling of the epiphysis of the proximal phalanx of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.'),('HP:0100201','Triangular epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100202','Absent epiphysis of the distal phalanx of the 5th toe',''),('HP:0100203','Bracket epiphysis of the distal phalanx of the 5th toe',''),('HP:0100204','Cone-shaped epiphysis of the distal phalanx of the 5th toe',''),('HP:0100205','Enlarged epiphysis of the distal phalanx of the 5th toe',''),('HP:0100206','Fragmentation of the epiphysis of the distal phalanx of the 5th toe',''),('HP:0100207','Irregular epiphysis of the distal phalanx of the 5th toe',''),('HP:0100208','Ivory epiphysis of the distal phalanx of the 5th toe',''),('HP:0100209','Pseudoepiphysis of the distal phalanx of the 5th toe',''),('HP:0100210','Small epiphysis of the distal phalanx of the 5th toe',''),('HP:0100211','Stippling of the epiphysis of the distal phalanx of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.'),('HP:0100212','Triangular epiphysis of the distal phalanx of the 5th toe',''),('HP:0100213','Absent epiphysis of the middle phalanx of the 5th toe',''),('HP:0100214','Bracket epiphysis of the middle phalanx of the 5th toe',''),('HP:0100215','Cone-shaped epiphysis of the middle phalanx of the 5th toe',''),('HP:0100216','Enlarged epiphysis of the middle phalanx of the 5th toe',''),('HP:0100217','Fragmentation of the epiphysis of the middle phalanx of the 5th toe',''),('HP:0100218','Irregular epiphysis of the middle phalanx of the 5th toe',''),('HP:0100219','Ivory epiphysis of the middle phalanx of the 5th toe',''),('HP:0100220','Pseudoepiphysis of the middle phalanx of the 5th toe',''),('HP:0100221','Small epiphysis of the middle phalanx of the 5th toe',''),('HP:0100222','Stippling of the epiphysis of the middle phalanx of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.'),('HP:0100223','Triangular epiphysis of the middle phalanx of the 5th toe',''),('HP:0100224','Absent epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100225','Bracket epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100226','Cone-shaped epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100227','Enlarged epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100228','Fragmentation of the epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100229','Irregular epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100230','Ivory epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100231','Pseudoepiphysis of the proximal phalanx of the 5th toe',''),('HP:0100232','Small epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100233','Stippling of the epiphysis of the proximal phalanx of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.'),('HP:0100234','Triangular epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100235','Synostosis involving bones of the toes',''),('HP:0100237','Proximal foot symphalangism',''),('HP:0100238','Synostosis involving bones of the upper limbs','An abnormal union between bones or parts of bones of the upper limbs.'),('HP:0100240','Synostosis of joints','The abnormal fusion of neighboring bones across a joint.'),('HP:0100241','Ectopic respiratory mucosa','Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.'),('HP:0100242','Sarcoma','A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.'),('HP:0100243','Leiomyosarcoma','A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.'),('HP:0100244','Fibrosarcoma','A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.'),('HP:0100245','Desmoid tumors','Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.'),('HP:0100246','Osteoma','Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.'),('HP:0100247','Recurrent singultus','A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one`s breath while sobbing. The hiccup is an involuntary action involving a reflex arc.'),('HP:0100248','Hemiballismus','Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.'),('HP:0100249','Calcification of muscles','Deposition of calcium salts in muscle tissue.'),('HP:0100250','Meningeal calcification','Calcium deposition affecting the Meninges.'),('HP:0100251','Multiple central nervous system lipomas','The presence of mulitple lipomas located in the central nervous system.'),('HP:0100252','Diaphyseal dysplasia',''),('HP:0100253','Abnormality of the medullary cavity of the long bones','An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.'),('HP:0100254','Stenosis of the medullary cavity of the long bones',''),('HP:0100255','Metaphyseal dysplasia','The presence of dysplastic regions in metaphyseal regions.'),('HP:0100256','Senile plaques','Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.'),('HP:0100257','Ectrodactyly','A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.'),('HP:0100258','Preaxial polydactyly','A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.'),('HP:0100259','Postaxial polydactyly','A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.'),('HP:0100260','Mesoaxial polydactyly','The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.'),('HP:0100261','Abnormal tendon morphology','An abnormality of the structure or form of the tendons, also often called sinews.'),('HP:0100262','Synostosis involving digits',''),('HP:0100263','Distal symphalangism',''),('HP:0100264','Proximal symphalangism',''),('HP:0100265','Synostosis of metacarpals/metatarsals',''),('HP:0100266','Synostosis of carpals/tarsals','The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.'),('HP:0100267','Lip pit','A depression located on a lip.'),('HP:0100268','Upper lip pit','Depression located on the vermilion of the upper lip, usually paramedian.'),('HP:0100269','Paramedian lip pit','Depression located paramedially on the vermilion of a lip.'),('HP:0100270','Abnormality of dorsoventral patterning of the limbs','An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.'),('HP:0100271','Hyponasal speech','Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.'),('HP:0100272','Branchial sinus','A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.'),('HP:0100273','Neoplasm of the colon',''),('HP:0100274','Gustatory lacrimation','Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.'),('HP:0100275','Diffuse cerebellar atrophy','Diffuse unlocalised atrophy affecting the cerebellum.'),('HP:0100276','Skin pit','A small, skin-lined tract that leads from the surface to deep within the tissues.'),('HP:0100277','Periauricular skin pits','Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.'),('HP:0100279','Ulcerative colitis','A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn`s disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.'),('HP:0100280','Crohn`s disease','A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn`s disease is thought to be an autoimmune disease, in which the body`s immune system attacks the gastrointestinal tract, causing inflammation.'),('HP:0100281','Chronic colitis','A chronic inflammatory disease of the large intestine (colon, cecum and rectum).'),('HP:0100282','Acute colitis','An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).'),('HP:0100283','EMG: continuous motor unit activity at rest','Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.'),('HP:0100284','EMG: myotonic discharges','High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.'),('HP:0100285','EMG: impaired neuromuscular transmission','An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).'),('HP:0100287','EMG: slow motor conduction','The presence of reduced conduction velocity of motor nerves on electromyography.'),('HP:0100288','EMG: myokymic discharges','The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.'),('HP:0100289','Abnormality of pattern reversal visual evoked potentials',''),('HP:0100290','Abnormality of peripheral somatosensory evoked potentials',''),('HP:0100291','Abnormality of central somatosensory evoked potentials',''),('HP:0100292','Amyloidosis of peripheral nerves','The presence of amyloid deposition in the nerves of the peripheral nervous system.'),('HP:0100293','Muscle fiber hypertrophy',''),('HP:0100295','Muscle fiber atrophy',''),('HP:0100296','Perifascicular muscle fiber atrophy',''),('HP:0100297','Increased endomysial connective tissue',''),('HP:0100298','Motheaten muscle fibers',''),('HP:0100299','Muscle fiber inclusion bodies',''),('HP:0100300','Desmin bodies',''),('HP:0100301','Muscle fiber tubular inclusions','Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.'),('HP:0100302','Muscle fiber tubuloreticular inclusions',''),('HP:0100303','Muscle fiber cytoplasmatic inclusion bodies','The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.'),('HP:0100304','Muscle fiber intranuclear inclusion bodies','The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.'),('HP:0100305','Ring fibers','Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.'),('HP:0100306','Muscle fiber hyaline bodies',''),('HP:0100307','Cerebellar hemisphere hypoplasia',''),('HP:0100308','Cerebral cortical hemiatrophy','Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.'),('HP:0100309','Subdural hemorrhage','Hemorrhage occurring between the dura mater and the arachnoid mater.'),('HP:0100310','Epidural hemorrhage','Hemorrhage occurring between the dura mater and the skull.'),('HP:0100311','Cerebral ventricular adhesions',''),('HP:0100312','Cerebral germinoma','The presence of a germ cell tumor of the cerebrum.'),('HP:0100313','Cerebral granulomatosis','Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.'),('HP:0100314','Cerebral inclusion bodies','Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.'),('HP:0100315','Lewy bodies',''),('HP:0100316','Hirano bodies','Intracellular aggregates of actin and actin-associated proteins within nerve cells.'),('HP:0100317','Argyrophilic inclusion bodies','Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.'),('HP:0100318','Lafora bodies','An intraneuronal inclusion body composed of acid mucopolysaccharides.'),('HP:0100319','Cerebral hyaline bodies','Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.'),('HP:0100320','Rosenthal fibers','Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.'),('HP:0100321','Abnormality of the dentate nucleus','An abnormality of the dentate nucleus.'),('HP:0100322','Aplasia of the pyramidal tract',''),('HP:0100323','Juvenile aseptic necrosis','Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.'),('HP:0100324','Scleroderma','A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.'),('HP:0100326','Immunologic hypersensitivity','Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.'),('HP:0100327','Cow milk allergy','Hypersensitivity in form of an adverse immune reaction against cow milk protein.'),('HP:0100328','Carpometacarpal synostosis','Fusion involving carpal and metacarpal bones.'),('HP:0100329','Tarsometatarsal synostosis',''),('HP:0100333','Unilateral cleft lip','A non-midline cleft of the upper lip on one side only.'),('HP:0100334','Unilateral cleft palate',''),('HP:0100335','Non-midline cleft lip','Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.'),('HP:0100336','Bilateral cleft lip','A non-midline cleft of the upper lip on the left and right sides.'),('HP:0100337','Bilateral cleft palate','Nonmidline cleft palate on the left and right sides.'),('HP:0100338','Non-midline cleft palate',''),('HP:0100339','Abnormality of the os naviculare pedis',''),('HP:0100340','Fibular deviation of the 4th toe',''),('HP:0100341','Tibial deviation of the 4th toe',''),('HP:0100342','Fibular deviation of the 3rd toe',''),('HP:0100343','Tibial deviation of the 3rd toe',''),('HP:0100344','Fibular deviation of the 2nd toe',''),('HP:0100345','Tibial deviation of the 2nd toe',''),('HP:0100346','Fibular deviation of the 5th toe',''),('HP:0100347','Tibial deviation of the 5th toe',''),('HP:0100348','Contracture of the proximal interphalangeal joint of the 2nd toe','The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.'),('HP:0100349','Contracture of the proximal interphalangeal joint of the 3rd toe','The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.'),('HP:0100350','Contracture of the proximal interphalangeal joint of the 4th toe','The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.'),('HP:0100351','Contractures of the proximal interphalangeal joint of the 5th toe','The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.'),('HP:0100352','Contracture of the distal interphalangeal joint of the 2nd toe','The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.'),('HP:0100353','Contracture of the distal interphalangeal joint of the 3rd toe','The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.'),('HP:0100354','Contracture of the distal interphalangeal joint of the 4th toe','The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.'),('HP:0100355','Contractures of the distal interphalangeal joint of the 5th toe','The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.'),('HP:0100356','Contracture of the metatarsophalangeal joint of the 2nd toe','The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.'),('HP:0100357','Contracture of the metatarsophalangeal joint of the 3rd toe','The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.'),('HP:0100358','Contracture of the metatarsophalangeal joint of the 4th toe','The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.'),('HP:0100359','Contracture of the metatarsophalangeal joint of the 5th toe','The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.'),('HP:0100360','Contractures of the joints of the upper limbs',''),('HP:0100362','Aplasia of the phalanges of the 3rd toe',''),('HP:0100363','Aplasia of the phalanges of the 4th toe',''),('HP:0100364','Aplasia of the phalanges of the 5th toe',''),('HP:0100366','Short phalanx of the 3rd toe','Developmental hypoplasia of the phalanx of third toe.'),('HP:0100367','Short phalanx of the 4th toe','Developmental hypoplasia of one or more phalanx of fourth toe.'),('HP:0100368','Short phalanx of the 5th toe','Developmental hypoplasia of one or more phalanx of little toe.'),('HP:0100369','Aplasia/Hypoplasia of the distal phalanx of the 3rd toe',''),('HP:0100370','Aplasia/Hypoplasia of the distal phalanx of the 4th toe',''),('HP:0100371','Aplasia/Hypoplasia of the distal phalanx of the 5th toe',''),('HP:0100372','Aplasia/Hypoplasia of the middle phalanx of the 3rd toe',''),('HP:0100373','Aplasia/Hypoplasia of the middle phalanx of the 4th toe',''),('HP:0100374','Aplasia/Hypoplasia of the middle phalanx of the 5th toe',''),('HP:0100375','Aplasia/hypoplasia of the proximal phalanx of the 3rd toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe.'),('HP:0100376','Aplasia/hypoplasia of the proximal phalanx of the 4th toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe.'),('HP:0100377','Aplasia/hypoplasia of the proximal phalanx of the 5th toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe.'),('HP:0100378','Absent distal phalanx of the 3rd toe','Developmental aplasia of the distal phalanx of third toe.'),('HP:0100379','Aplasia of the distal phalanx of the 4th toe',''),('HP:0100380','Aplasia of the distal phalanx of the 5th toe',''),('HP:0100381','Absent middle phalanx of the 3rd toe','Developmental aplasia of the middle phalanx of third toe.'),('HP:0100382','Aplasia of the middle phalanx of the 4th toe',''),('HP:0100383','Aplasia of the middle phalanx of the 5th toe',''),('HP:0100384','Absent proximal phalanx of the 3rd toe','Absence of proximal phalanx of third toe, owing to a congenital defect of development.'),('HP:0100385','Aplasia of the proximal phalanx of the 4th toe',''),('HP:0100386','Aplasia of the proximal phalanx of the 5th toe',''),('HP:0100387','Aplasia of the middle phalanges of the toes',''),('HP:0100388','Aplasia of the proximal phalanges of the toes',''),('HP:0100389','Short distal phalanx of the 3rd toe','Developmental hypoplasia of the distal phalanx of third toe.'),('HP:0100390','Short distal phalanx of the 4th toe','Developmental hypoplasia of the distal phalanx of fourth toe.'),('HP:0100391','Short distal phalanx of the 5th toe','Developmental hypoplasia of the distal phalanx of little toe.'),('HP:0100392','Short middle phalanx of the 3rd toe','Developmental hypoplasia of the middle phalanx of third toe.'),('HP:0100393','Short middle phalanx of the 4th toe','Developmental hypoplasia of the middle phalanx of fourth toe.'),('HP:0100394','Short middle phalanx of the 5th toe','Developmental hypoplasia of the middle phalanx of the 5th toe.'),('HP:0100395','Short proximal phalanx of the 3rd toe','Abnormal reduction in length of proximal phalanx of third toe.'),('HP:0100396','Short proximal phalanx of the 4th toe','Developmental hypoplasia of the proximal phalanx of fourth toe.'),('HP:0100397','Short proximal phalanx of the 5th toe','Developmental hypoplasia of the proximal phalanx of fifth toe.'),('HP:0100398','Duplication of the distal phalanx of the 3rd toe','Partial or complete duplication of distal phalanx of third toe.'),('HP:0100399','Duplication of the distal phalanx of the 4th toe','Partial or complete duplication of the distal phalanx of fourth toe.'),('HP:0100400','Duplication of the distal phalanx of the 5th toe','Partial or complete duplication of the distal phalanx of little toe.'),('HP:0100401','Duplication of the middle phalanx of the 3rd toe','Partial or complete duplication of middle phalanx of third toe.'),('HP:0100402','Duplication of the middle phalanx of the 4th toe','Partial or complete duplication of middle phalanx of fourth toe.'),('HP:0100403','Duplication of the middle phalanx of the 5th toe','Partial or complete duplication of the middle phalanx of the 5th toe.'),('HP:0100404','Duplication of the proximal phalanx of the 3rd toe','Partial or complete duplication of proximal phalanx of third toe.'),('HP:0100405','Duplication of the proximal phalanx of the 4th toe','Partial or complete duplication of the proximal phalanx of fourth toe.'),('HP:0100406','Duplication of the proximal phalanx of the 5th toe','Partial or complete duplication of the proximal phalanx of fifth toe.'),('HP:0100407','Complete duplication of the distal phalanx of the 3rd toe','Complete duplication of distal phalanx of third toe.'),('HP:0100408','Complete duplication of the distal phalanx of the 4th toe','Complete duplication of the distal phalanx of fourth toe.'),('HP:0100409','Complete duplication of the distal phalanx of the 5th toe','Complete duplication of the distal phalanx of little toe.'),('HP:0100410','Complete duplication of the middle phalanx of the 3rd toe','Complete duplication of middle phalanx of third toe.'),('HP:0100411','Complete duplication of the middle phalanx of the 4th toe','Complete duplication of middle phalanx of fourth toe.'),('HP:0100412','Complete duplication of the middle phalanx of the 5th toe','Complete duplication of the middle phalanx of the 5th toe.'),('HP:0100413','Complete duplication of the proximal phalanx of the 3rd toe','Complete duplication of proximal phalanx of third toe.'),('HP:0100414','Complete duplication of the proximal phalanx of the 4th toe',''),('HP:0100415','Complete duplication of the proximal phalanx of the 5th toe','Complete duplication of the proximal phalanx of fifth toe.'),('HP:0100416','Partial duplication of the distal phalanx of the 3rd toe','Partial duplication of distal phalanx of third toe.'),('HP:0100417','Partial duplication of the distal phalanx of the 4th toe','Partial duplication of the distal phalanx of fourth toe.'),('HP:0100418','Partial duplication of the distal phalanx of the 5th toe','Partial duplication of the distal phalanx of little toe.'),('HP:0100419','Partial duplication of the middle phalanx of the 3rd toe','Partial duplication of middle phalanx of third toe.'),('HP:0100420','Partial duplication of the middle phalanx of the 4th toe','Partial duplication of middle phalanx of fourth toe.'),('HP:0100421','Partial duplication of the middle phalanx of the 5th toe','Partial duplication of the middle phalanx of the 5th toe.'),('HP:0100422','Partial duplication of the proximal phalanx of the 3rd toe','Partial duplication of proximal phalanx of third toe.'),('HP:0100423','Partial duplication of the proximal phalanx of the 4th toe',''),('HP:0100424','Partial duplication of the proximal phalanx of the 5th toe','Partial duplication of the proximal phalanx of fifth toe.'),('HP:0100425','Broad middle phalanx of the 3rd toe',''),('HP:0100426','Broad middle phalanx of the 4th toe',''),('HP:0100427','Broad middle phalanx of the 5th toe',''),('HP:0100428','Broad proximal phalanx of the 3rd toe',''),('HP:0100429','Broad proximal phalanx of the 4th toe',''),('HP:0100430','Broad proximal phalanx of the 5th toe',''),('HP:0100431','Broad distal phalanx of the 3rd toe',''),('HP:0100432','Broad distal phalanx of the 4th toe',''),('HP:0100433','Broad distal phalanx of the 5th toe',''),('HP:0100434','Bullet-shaped middle phalanx of the 3rd toe','An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100435','Bullet-shaped middle phalanx of the 4th toe','An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100436','Bullet-shaped middle phalanx of the 5th toe','An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100437','Bullet-shaped proximal phalanx of the 3rd toe','An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100438','Bullet-shaped proximal phalanx of the 4th toe','An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100439','Bullet-shaped proximal phalanx of the 5th toe','An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100440','Bullet-shaped distal phalanx of the 3rd toe','An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100441','Bullet-shaped distal phalanx of the 4th toe','An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100442','Bullet-shaped distal phalanx of the 5th toe','An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100443','Curved middle phalanx of the 3rd toe','A deviation from the normal straight form of the middle phalanx of the third toe.'),('HP:0100444','Curved middle phalanx of the 4th toe','A deviation from the normal straight form of the middle phalanx of the fourth toe.'),('HP:0100445','Curved middle phalanx of the 5th toe','A deviation from the normal straight form of the middle phalanx of the fifth toe.'),('HP:0100446','Curved proximal phalanx of the 3rd toe','A deviation from the normal straight form of the proximal phalanx of the third toe.'),('HP:0100447','Curved proximal phalanx of the 4th toe','A deviation from the normal straight form of the proximal phalanx of the fourth toe.'),('HP:0100448','Curved proximal phalanx of the 5th toe','A deviation from the normal straight form of the proximal phalanx of the fifth toe.'),('HP:0100449','Curved distal phalanx of the 3rd toe','A deviation from the normal straight form of the distal phalanx of the third toe.'),('HP:0100450','Curved distal phalanx of the 4th toe','A deviation from the normal straight form of the distal phalanx of the fourth toe.'),('HP:0100451','Curved distal phalanx of the 5th toe','A deviation from the normal straight form of the distal phalanx of the fifth toe.'),('HP:0100452','Osteolytic defects of the middle phalanx of the 3rd toe',''),('HP:0100453','Osteolytic defects of the middle phalanx of the 4th toe',''),('HP:0100454','Osteolytic defects of the middle phalanx of the 5th toe',''),('HP:0100455','Osteolytic defects of the proximal phalanx of the 3rd toe',''),('HP:0100456','Osteolytic defects of the proximal phalanx of the 4th toe',''),('HP:0100457','Osteolytic defects of the proximal phalanx of the 5th toe',''),('HP:0100458','Osteolytic defects of the distal phalanx of the 3rd toe',''),('HP:0100459','Osteolytic defects of the distal phalanx of the 4th toe',''),('HP:0100460','Osteolytic defects of the distal phalanx of the 5th toe',''),('HP:0100461','Patchy sclerosis of the middle phalanx of the 3rd toe',''),('HP:0100462','Patchy sclerosis of the middle phalanx of the 4th toe','Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100463','Patchy sclerosis of the middle phalanx of the 5th toe','Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100464','Patchy sclerosis of the proximal phalanx of the 3rd toe',''),('HP:0100465','Patchy sclerosis of the proximal phalanx of the 4th toe','Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100466','Patchy sclerosis of the proximal phalanx of the 5th toe','Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100467','Patchy sclerosis of the distal phalanx of the 3rd toe',''),('HP:0100468','Patchy sclerosis of the distal phalanx of the 4th toe','Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100469','Patchy sclerosis of the distal phalanx of the 5th toe','Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100470','Symphalangism affecting the middle phalanx of the 3rd toe',''),('HP:0100471','Symphalangism affecting the middle phalanx of the 4th toe',''),('HP:0100472','Symphalangism affecting the middle phalanx of the 5th toe',''),('HP:0100473','Symphalangism affecting the proximal phalanx of the 3rd toe',''),('HP:0100474','Symphalangism affecting the proximal phalanx of the 4th toe',''),('HP:0100475','Symphalangism affecting the proximal phalanx of the 5th toe',''),('HP:0100476','Symphalangism affecting the distal phalanx of the 3rd toe',''),('HP:0100477','Symphalangism affecting the distal phalanx of the 4th toe',''),('HP:0100478','Symphalangism affecting the distal phalanx of the 5th toe',''),('HP:0100480','Proximal/middle symphalangism of 3rd toe','Bony fusion of the middle and proximal phalanges of the 3rd toe.'),('HP:0100481','Proximal/middle symphalangism of 4th toe','Bony fusion of the middle and proximal phalanges of the 4th toe.'),('HP:0100482','Proximal/middle symphalangism of 5th toe','Bony fusion of the middle and proximal phalanges of the 5th toe.'),('HP:0100483','Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal',''),('HP:0100484','Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal',''),('HP:0100485','Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal',''),('HP:0100486','Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal',''),('HP:0100487','Triangular shaped distal phalanx of the 5th toe',''),('HP:0100488','Synostosis of the proximal phalanx of the hallux with the 1st metatarsal',''),('HP:0100489','Proximal/middle symphalangism of 2nd toe','Bony fusion of the middle and proximal phalanges of the 2nd toe.'),('HP:0100490','Camptodactyly of finger','The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.'),('HP:0100491','Abnormality of lower limb joint',''),('HP:0100492','Joint contractures involving the joints of the feet','Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.'),('HP:0100493','Hypoammonemia','A decreased concentration of ammonia in the blood.'),('HP:0100494','Abnormal mast cell morphology','Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.'),('HP:0100495','Mastocytosis','The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.'),('HP:0100496','Abnormality of the vitamin B3 metabolism',''),('HP:0100497','Vitamin B3 deficiency',''),('HP:0100498','Deviation of toes',''),('HP:0100499','Tibial deviation of toes',''),('HP:0100500','Fibular deviation of toes',''),('HP:0100501','Recurrent bronchiolitis','An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.'),('HP:0100502','Vitamin B12 deficiency',''),('HP:0100503','Low levels of vitamin B1','A reduced concentration of vitamin B1.'),('HP:0100504','Low levels of vitamin B2','A reduced concentration of vitamin B2.'),('HP:0100505','Low levels of vitamin B5','A reduced concentration of vitamin B5.'),('HP:0100506','Low levels of vitamin B8','A reduced concentration of vitamin B8.'),('HP:0100507','Reduced blood folate concentration','A reduced circulating concentration of folic acid, which is also known as vitamin B9.'),('HP:0100508','Abnormality of vitamin metabolism','An anomaly in the metabolism of a vitamin.'),('HP:0100509','Abnormality of vitamin C metabolism',''),('HP:0100510','Low levels of vitamin C','A reduced concentration of Vitamin C.'),('HP:0100511','Abnormality of vitamin D metabolism',''),('HP:0100512','Low levels of vitamin D','A reduced concentration of Vitamin D.'),('HP:0100513','Low levels of vitamin E','A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.'),('HP:0100514','Abnormality of vitamin E metabolism',''),('HP:0100515','Pollakisuria','Increased frequency of urination.'),('HP:0100516','Neoplasm of the ureter','The presence of a neoplasm of the ureter.'),('HP:0100517','Neoplasm of the urethra','The presence of a neoplasm of the urethra.'),('HP:0100518','Dysuria','Painful or difficult urination.'),('HP:0100519','Anuria','Absence of urine, clinically classified as below 50ml/day.'),('HP:0100520','Oliguria','Low output of urine, clinically classified as an output below 300-500ml/day.'),('HP:0100521','Neoplasm of the thymus','A tumor (abnormal growth of tissue) of the thymus.'),('HP:0100522','Thymoma','A tumor originating from the epithelial cells of the thymus.'),('HP:0100523','Liver abscess','The presence of an abscess of the liver.'),('HP:0100524','Limb duplication','Congenital duplication of all or part of a limb.'),('HP:0100525','Urachus fistula','Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.'),('HP:0100526','Neoplasm of the lung','Tumor of the lung.'),('HP:0100527','Neoplasia of the pleura',''),('HP:0100528','Pleuropulmonary blastoma','A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.'),('HP:0100529','Abnormal blood phosphate concentration','An abnormality of phosphate homeostasis or concentration in the body.'),('HP:0100530','Abnormal calcium-phosphate regulating hormone level','Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.'),('HP:0100531','Wind-swept deformity of the knees','The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.'),('HP:0100532','Scleritis','Inflammation of the sclera.'),('HP:0100533','Inflammatory abnormality of the eye','Inflammation of the eye, parts of the eye or the periorbital region.'),('HP:0100534','Episcleritis','Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.'),('HP:0100535','Tibiofibular diastasis',''),('HP:0100536','Abnormality of the fascia','An abnormality of fascia.'),('HP:0100537','Fasciitis','Inflammation of fascia, the tissue under the skin and over the muscle.'),('HP:0100538','Abnormality of the supraorbital ridges','An anomaly of the supraorbital portion of the frontal bones.'),('HP:0100539','Periorbital edema','Edema affecting the region situated around the orbit of the eye.'),('HP:0100540','Palpebral edema','Edema in the region of the eyelids.'),('HP:0100541','Femoral hernia','A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.'),('HP:0100542','Abnormal localization of kidney','An abnormal site of the kidney.'),('HP:0100543','Cognitive impairment','Abnormality in the process of thought including the ability to process information.'),('HP:0100544','Neoplasm of the heart','A tumor (abnormal growth of tissue) of the heart.'),('HP:0100545','Arterial stenosis','Narrowing or constriction of the inner surface (lumen) of an artery.'),('HP:0100546','Carotid artery stenosis','Narrowing of the carotid arteries.'),('HP:0100547','Abnormality of forebrain morphology','An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.'),('HP:0100548','Exstrophy','Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.'),('HP:0100550','Tendon rupture','Breakage (tear) of a tendon.'),('HP:0100551','Neoplasm of the trachea','A neoplasm of the trachea.'),('HP:0100552','Neoplasm of the tracheobronchial system',''),('HP:0100553','Hemihypertrophy of lower limb','Overgrowth of only one leg.'),('HP:0100554','Hemihypertrophy of upper limb','Overgrowth of only one arm.'),('HP:0100555','Asymmetric growth','A growth pattern that displays an abnormal difference between the left and the right side.'),('HP:0100556','Hemiatrophy','Undergrowth of the limbs that affects only one side.'),('HP:0100557','Hemiatrophy of lower limb','Unilateral atrophy (reduction in size) of a leg.'),('HP:0100558','Hemiatrophy of upper limb','Unilateral atrophy (reduction in size) of an arm.'),('HP:0100559','Lower limb asymmetry','A difference in length or diameter between the left and right leg.'),('HP:0100560','Upper limb asymmetry','Difference in length or size between the right and left arm.'),('HP:0100561','Spinal cord lesion',''),('HP:0100562','Diplomyelia','Duplication of the spinal cord.'),('HP:0100563','Diastomatomyelia','Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.'),('HP:0100564','Triplomyelia','Triplication of the spinal cord - extremely rare.'),('HP:0100565','Hydromyelia','Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.'),('HP:0100566','Amyelia','Congenital absence of the spinal cord.'),('HP:0100568','Neoplasm of the endocrine system','A tumor (abnormal growth of tissue) of the endocrine system.'),('HP:0100569','Abnormally ossified vertebrae','An abnormality of the formation and mineralization of one or more vertebrae.'),('HP:0100570','Carcinoid tumor','A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.'),('HP:0100571','Cardiac diverticulum','A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.'),('HP:0100572','Fibrous cardiac diverticulum','A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.'),('HP:0100573','Muscular cardiac diverticulum',''),('HP:0100574','Biliary tract neoplasm','A tumor (abnormal growth of tissue) of the biliary system.'),('HP:0100575','Neoplasm of the gallbladder','The presence of a neoplasm of the gallbladder.'),('HP:0100576','Amaurosis fugax','A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.'),('HP:0100577','Urinary bladder inflammation','Inflammation of the urinary bladder.'),('HP:0100578','Lipoatrophy','Localized loss of fat tissue.'),('HP:0100579','Mucosal telangiectasiae','Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.'),('HP:0100580','Barrett esophagus','An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.'),('HP:0100581','Dilatation of renal calices','An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.'),('HP:0100582','Nasal polyposis','Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.'),('HP:0100583','Corneal perforation','A rupture of the cornea through which a portion of the iris protrudes.'),('HP:0100584','Endocarditis','An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.'),('HP:0100585','Telangiectasia of the skin','Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.'),('HP:0100586','Sterile pyuria','Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.'),('HP:0100587','Abnormality of the preputium',''),('HP:0100588','Paraphimosis','The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.'),('HP:0100589','Urogenital fistula','The presence of a fistula affecting the genitourinary system.'),('HP:0100590','Rectal fistula','The presence of a fistula affecting the rectum.'),('HP:0100592','Peritoneal abscess','The presence of an abscess of the peritoneum.'),('HP:0100593','Calcification of cartilage',''),('HP:0100594','Esophageal web','Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).'),('HP:0100595','Camptocormia','An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson`s disease and dystonic disorders.'),('HP:0100596','Absent nares','The nostrils (the paired channels of the nose) are not present.'),('HP:0100598','Pulmonary edema','Fluid accumulation in the lungs.'),('HP:0100599','Bifid penis','Two penile structures, separated from the tip to the base of the shaft.'),('HP:0100600','Penoscrotal transposition','A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.'),('HP:0100601','Eclampsia','An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.'),('HP:0100602','Preeclampsia','Pregnancy-induced hypertension in association with significant amounts of protein in the urine.'),('HP:0100603','Toxemia of pregnancy','Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.'),('HP:0100604','Neoplasm of the lip','A tumor (abnormal growth of tissue) of the lip.'),('HP:0100605','Neoplasm of the larynx',''),('HP:0100606','Neoplasm of the respiratory system','A tumor (abnormal growth of tissue) of the respiratory system.'),('HP:0100607','Dysmenorrhea','Pain during menstruation that interferes with daily activities.'),('HP:0100608','Metrorrhagia','Bleeding at irregular intervals.'),('HP:0100609','obsolete Hypermenorrhea',''),('HP:0100610','Maternal hyperphenylalaninemia','A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.'),('HP:0100611','Multiple glomerular cysts','The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman`s capsule.'),('HP:0100612','Odontogenic neoplasm','Neoplasm involving odontogenic cells, an odontogenic tumor.'),('HP:0100613','Death in early adulthood','Death between the age of 16 and 40 years.'),('HP:0100614','Myositis','A general term for inflammation of the muscles without respect to the underlying cause.'),('HP:0100615','Ovarian neoplasm','A tumor (abnormal growth of tissue) of the ovary.'),('HP:0100616','Testicular teratoma','The presence of a teratoma of the testis.'),('HP:0100617','Testicular seminoma','The presence of a seminoma, an undifferentiated germ cell tumor of the testis.'),('HP:0100618','Leydig cell neoplasia','The presence of a neoplasm of the testis with origin in a Leydig cell.'),('HP:0100619','Sertoli cell neoplasm','The presence of a neoplasm of the testis with origin in a Sertoli cell.'),('HP:0100620','Germinoma','A type of undifferentiated germ cell tumor that may be benign or malignant.'),('HP:0100621','Dysgerminoma','The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.'),('HP:0100622','Maternal seizure','A seizure during pregnancy.'),('HP:0100623','Abnormality of corpus cavernosum',''),('HP:0100624','Corpus cavernosum sclerosis',''),('HP:0100625','Enlarged thorax',''),('HP:0100626','Chronic hepatic failure',''),('HP:0100627','Displacement of the urethral meatus','A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).'),('HP:0100628','Esophageal diverticulum','The presence of a diverticulum of the esophagus.'),('HP:0100629','Midline facial cleft','A congenital malformation with a cleft (gap or opening) in the midline of the face.'),('HP:0100630','Neoplasia of the nasopharynx',''),('HP:0100631','Neoplasm of the adrenal gland','A tumor (abnormal growth of tissue) of the adrenal gland.'),('HP:0100632','Pulmonary sequestration','The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).'),('HP:0100633','Esophagitis','Inflammation of the esophagus.'),('HP:0100634','Neuroendocrine neoplasm','A tumor that originates from a neuroendocrine cell.'),('HP:0100635','Carotid paraganglioma','A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.'),('HP:0100636','Pulmonary paraglioma','A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.'),('HP:0100637','obsolete Neoplasia of the nose',''),('HP:0100638','Neoplasm of the pharynx','A neoplasm originating in the pharynx.'),('HP:0100639','Erectile dysfunction','A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.'),('HP:0100640','Laryngeal cyst','Presence of a cyst (sac-like structure) located in the larynx.'),('HP:0100641','Neoplasm of the adrenal cortex','The presence of a neoplasm of the adrenal cortex.'),('HP:0100642','Neoplasm of the adrenal medulla','The presence of a neoplasm of the adrenal medulla.'),('HP:0100643','Abnormality of nail color','An anomaly of the color of the nail.'),('HP:0100644','Melanonychia','Brown or black discoloration of the nails.'),('HP:0100645','Cystocele','Anterior vaginal wall prolapse with bulging of the bladder into the vagina.'),('HP:0100646','Thyroiditis','Inflammation of the thyroid gland.'),('HP:0100647','Graves disease','An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.'),('HP:0100648','Neoplasm of the tongue','A tumor (abnormal growth of tissue) of the tongue.'),('HP:0100649','Neoplasm of the oral cavity','A tumor (abnormal growth of tissue) of the oral cavity.'),('HP:0100650','Vaginal neoplasm','A tumor (abnormal growth of tissue) of the vagina.'),('HP:0100651','Type I diabetes mellitus','A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.'),('HP:0100653','Optic neuritis','Inflammation of the optic nerve.'),('HP:0100654','Retrobulbar optic neuritis','Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.'),('HP:0100656','Thoracoabdominal wall defect','Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.'),('HP:0100657','Thoracoabdominal eventration','Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.'),('HP:0100658','Cellulitis','A bacterial infection and inflammation of the skin und subcutaneous tissues.'),('HP:0100659','Abnormality of the cerebral vasculature',''),('HP:0100660','Dyskinesia','A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.'),('HP:0100661','Trigeminal neuralgia','A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.'),('HP:0100662','Chondritis','Inflammation of cartilage.'),('HP:0100663','Synotia','A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.'),('HP:0100665','Angioedema','Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.'),('HP:0100668','Intestinal duplication','A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.'),('HP:0100669','Abnormal pigmentation of the oral mucosa','An abnormality of the pigmentation of the mucosa of the mouth.'),('HP:0100670','Rough bone trabeculation',''),('HP:0100671','Abnormal trabecular bone morphology','Abnormal structure or form of trabecular bone.'),('HP:0100672','Vaginal hernia','The presence of a hernia of the vagina.'),('HP:0100673','Vaginal hydrocele',''),('HP:0100674','Vaginal hematocele',''),('HP:0100675','Vaginal pyocele',''),('HP:0100676','Vaginal lymphocele',''),('HP:0100677','Vulval varicose vein','Varicosity of veins in the vulval region.'),('HP:0100678','Premature skin wrinkling','The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.'),('HP:0100679','Lack of skin elasticity',''),('HP:0100681','Esophageal duplication','A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.'),('HP:0100682','Tracheal atresia','A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.'),('HP:0100684','Salivary gland neoplasm','A tumor (abnormal growth of tissue) of a salivary gland.'),('HP:0100685','Abnormal Sharpey fiber morphology','An abnormality of Sharpey`s fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.'),('HP:0100686','Enthesitis',''),('HP:0100687','Polyotia','The presence of an extra auricle on one or both sides of the head.'),('HP:0100689','Decreased corneal thickness','A decreased anteroposterior thickness of the cornea.'),('HP:0100690','Mosaic central corneal dystrophy',''),('HP:0100691','Abnormality of the curvature of the cornea',''),('HP:0100692','Increased corneal curvature','An increase in the degree of curvature of the cornea compared to normal.'),('HP:0100693','Iridodonesis','Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.'),('HP:0100694','Tibial torsion','Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.'),('HP:0100695','Lipedema','Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .'),('HP:0100697','Neurofibrosarcoma','A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.'),('HP:0100698','Subcutaneous neurofibromas','The presence of Neurofibromas in the subcutis.'),('HP:0100699','Scarring',''),('HP:0100700','Abnormal arachnoid mater morphology','An abnormality of the Arachnoid mater.'),('HP:0100701','Abnormal pia mater','An abnormality of the pia mater.'),('HP:0100702','Arachnoid cyst','An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.'),('HP:0100703','Tongue thrusting',''),('HP:0100704','Cerebral visual impairment','A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.'),('HP:0100705','Abnormality of the glial cells','An abnormality of the glia cell.'),('HP:0100706','Abnormality of the oligodendroglia','One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.'),('HP:0100707','Abnormality of the astrocytes','An abnormality of astrocytes.'),('HP:0100708','Abnormality of the microglia','An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells.'),('HP:0100709','Reduction of oligodendroglia',''),('HP:0100710','Impulsivity','Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.'),('HP:0100711','Abnormality of the thoracic spine','An abnormality of the thoracic vertebral column.'),('HP:0100712','Abnormality of the lumbar spine','An abnormality of the lumbar vertebral column.'),('HP:0100716','Self-injurious behavior','Aggression towards oneself.'),('HP:0100717','Abnormality of the cementum',''),('HP:0100718','Uterine rupture',''),('HP:0100719','Lens coloboma','A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.'),('HP:0100720','Hypoplasia of the ear cartilage',''),('HP:0100721','Mediastinal lymphadenopathy','Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.'),('HP:0100723','Gastrointestinal stroma tumor',''),('HP:0100724','Hypercoagulability','An abnormality of coagulation associated with an increased risk of thrombosis.'),('HP:0100725','Lichenification','Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.'),('HP:0100726','Kaposi`s sarcoma','A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi`s sarcoma-associated herpesvirus (KSHV).'),('HP:0100727','Histiocytosis','An excessive number of histiocytes (tissue macrophages).'),('HP:0100728','Germ cell neoplasia',''),('HP:0100729','Large face',''),('HP:0100730','Bronchogenic cyst','A rare congenital cystic lesion of the lungs in the mediastinum.'),('HP:0100731','Transverse facial cleft','A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.'),('HP:0100732','Pancreatic fibrosis',''),('HP:0100733','Neoplasm of the parathyroid gland','A tumor (abnormal growth of tissue) of the parathyroid gland.'),('HP:0100734','Abnormality of vertebral epiphysis morphology','An anomaly of one or more epiphyses of one or more vertebrae.'),('HP:0100735','Hypertensive crisis',''),('HP:0100736','Abnormal soft palate morphology','An abnormality of the soft palate.'),('HP:0100737','Abnormal hard palate morphology',''),('HP:0100738','Abnormal eating behavior','Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.'),('HP:0100739','Bulimia','A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).'),('HP:0100742','Vascular neoplasm','A benign or malignant neoplasm (tumour) originating in the vascular system.'),('HP:0100743','Neoplasm of the rectum',''),('HP:0100744','Abnormality of the humeroradial joint',''),('HP:0100745','Abnormality of the humeroulnar joint','An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.'),('HP:0100746','Macrodactyly of finger','A type of Macrodactyly affecting one or several fingers.'),('HP:0100747','Macrodactyly of toe','A type of Macrodactyly affecting one or several toes.'),('HP:0100748','Muscular edema',''),('HP:0100749','Chest pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.'),('HP:0100750','Atelectasis','Collapse of part of a lung associated with absence of inflation (air) of that part.'),('HP:0100751','Esophageal neoplasm','A tumor (abnormal growth of tissue) of the esophagus.'),('HP:0100752','Abnormal liver lobulation','Formation of abnormal lobules (small masses of tissue) in the liver.'),('HP:0100753','Schizophrenia','A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.'),('HP:0100754','Mania','A state of abnormally elevated or irritable mood, arousal, and or energy levels.'),('HP:0100755','Abnormality of salivation',''),('HP:0100757','Pancreatoblastoma','A rare pediatric carcinoma of the pancreas.'),('HP:0100758','Gangrene','A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).'),('HP:0100759','Clubbing of fingers','Terminal broadening of the fingers (distal phalanges of the fingers).'),('HP:0100760','Clubbing of toes','Terminal broadening of the toes (distal phalanges of the toes).'),('HP:0100761','Visceral angiomatosis',''),('HP:0100762','Hemobilia','Bleeding into the biliary tree.'),('HP:0100763','Abnormality of the lymphatic system','An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.'),('HP:0100764','Lymphangioma','Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.'),('HP:0100765','Abnormality of the tonsils','An abnormality of the tonsils.'),('HP:0100766','Abnormal lymphatic vessel morphology','A structural anomaly of the vessel that contains or conveys lymph fluid.'),('HP:0100767','Abnormality of the placenta','An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.'),('HP:0100768','Choriocarcinoma','A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.'),('HP:0100769','Synovitis',''),('HP:0100770','Hyperperistalsis','Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.'),('HP:0100771','Hypoperistalsis','Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.'),('HP:0100773','Cartilage destruction',''),('HP:0100774','Hyperostosis','Excessive growth or abnormal thickening of bone tissue.'),('HP:0100775','Dural ectasia','A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.'),('HP:0100776','Recurrent pharyngitis','An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.'),('HP:0100777','Exostoses','An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.'),('HP:0100778','Cryoglobulinemia','Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.'),('HP:0100779','Urogenital sinus anomaly','A rare birth defect in women where the urethra and vagina both open into a common channel.'),('HP:0100780','Conjunctival hamartoma','A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.'),('HP:0100781','Abnormality of the sacroiliac joint','An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).'),('HP:0100783','Breast aplasia','Failure to develop and congenital absence of the breast.'),('HP:0100784','Peripheral arteriovenous fistula',''),('HP:0100785','Insomnia',''),('HP:0100786','Hypersomnia',''),('HP:0100787','Prostate neoplasm',''),('HP:0100788','Fused lips','Lack of separation of the upper and lower lips.'),('HP:0100789','Torus palatinus','A bony protrusion present on the midline of the hard palate.'),('HP:0100790','Hernia',''),('HP:0100792','Acantholysis','The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.'),('HP:0100795','Abnormally straight spine','The absence of the normal curvature of the vertebral column.'),('HP:0100796','Orchitis','Testicular inflammation.'),('HP:0100797','Toenail dysplasia','An abnormality of the development of the toenails.'),('HP:0100798','Fingernail dysplasia','An abnormality of the development of the fingernails.'),('HP:0100799','Neoplasm of the middle ear','A tumor (abnormal growth of tissue) of the middle ear.'),('HP:0100800','Aplasia/Hypoplasia of the pancreas','A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.'),('HP:0100801','Pancreatic aplasia','Aplasia of the pancreas.'),('HP:0100802','Malposition of the stomach','Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.'),('HP:0100803','Abnormality of the periungual region','An abnormality of the region around the nails of the fingers or toes.'),('HP:0100804','Ungual fibroma','Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate).'),('HP:0100805','obsolete Precocious menopause',''),('HP:0100806','Sepsis','Systemic inflammatory response to infection.'),('HP:0100807','Long fingers','The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.'),('HP:0100808','Gastric diverticulum','An outpouching of the gastric wall.'),('HP:0100809','Scalp tenderness','Pain or discomfort of the scalp elicited by palpation.'),('HP:0100810','Pointed helix',''),('HP:0100811','Aplasia/Hypoplasia of the colon','Congenital absence or underdevelopment of the colon.'),('HP:0100812','Halitosis','Noticeably unpleasant odors exhaled in breathing.'),('HP:0100813','Testicular torsion','Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.'),('HP:0100814','Blue nevus',''),('HP:0100816','Lip hyperpigmentation',''),('HP:0100817','Renovascular hypertension','The presence of hypertension related to stenosis of the renal artery.'),('HP:0100818','Long thorax','Increased inferior to superior extent of the thorax.'),('HP:0100819','Intestinal fistula','An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.'),('HP:0100820','Glomerulopathy','Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.'),('HP:0100821','Urethrocele','The prolapse of the female urethra into the vagina.'),('HP:0100822','Rectocele','A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.'),('HP:0100823','Genital hernia',''),('HP:0100825','Cheilitis','Inflammation of the lip.'),('HP:0100826','Neoplasm of the nail','A tumor (abnormal growth of tissue) of the nail.'),('HP:0100827','Lymphocytosis','Increase in the number or proportion of lymphocytes in the blood.'),('HP:0100828','Increased T cell count','An abnormal increase in the total number of T cells detected in the blood.'),('HP:0100829','Galactorrhea','Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.'),('HP:0100830','Round ear',''),('HP:0100831','Abnormality of vitamin K metabolism','Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.'),('HP:0100832','Vitreous floaters','Deposits of various size, shape, consistency, refractive index, and motility within the eye`s vitreous humour, which is normally transparent.'),('HP:0100833','Neoplasm of the small intestine','The presence of a neoplasm of the small intestine.'),('HP:0100834','Neoplasm of the large intestine','The presence of a neoplasm of the large intestine.'),('HP:0100835','Benign neoplasm of the central nervous system',''),('HP:0100836','Malignant neoplasm of the central nervous system','A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.'),('HP:0100837','Atrophodermia vermiculata','Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.'),('HP:0100838','Recurrent cutaneous abscess formation','An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.'),('HP:0100839','Hepatic agenesis','Absence of the liver owing to a failure of the liver to develop.'),('HP:0100840','Aplasia/Hypoplasia of the eyebrow','Absence or underdevelopment of the eyebrow.'),('HP:0100841','Microgastria','A developmental anomaly wtih a small tubular or saccular midline stomach.'),('HP:0100842','Septo-optic dysplasia','Underdevelopment of the optic nerve and absence of the septum pellucidum.'),('HP:0100843','obsolete Glioblastoma',''),('HP:0100844','Pancreatic fistula',''),('HP:0100845','Anaphylactic shock','An acute hypersensitivity reaction due to exposure to a previously encountered antigen.'),('HP:0100847','Palmoplantar pustulosis','A chronic, relapsing, pustular eruption that is localized to the palms and soles.'),('HP:0100848','Neoplasm of the male external genitalia','A tumor (abnormal growth of tissue) of the male external genitalia.'),('HP:0100849','Neoplasm of the scrotum','A tumor (abnormal growth of tissue) of the scrotum.'),('HP:0100850','Neoplasm of the penis','A tumor (abnormal growth of tissue) of the penis.'),('HP:0100851','Abnormal emotion/affect behavior','An abnormality of emotional behaviour.'),('HP:0100852','Abnormal fear/anxiety-related behavior','An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.'),('HP:0100853','Hypoplastic areola','Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.'),('HP:0100854','Aplasia of the musculature','Absence of the musculature.'),('HP:0100855','Triceps hypoplasia','Hypoplasia of the triceps muscle.'),('HP:0100856','Poorly ossified vertebrae','Decreased ossification of the vertebral bodies.'),('HP:0100857','Flat sella turcica','An abnormally flat sella turcica.'),('HP:0100858','Dilatation of celiac artery','Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.'),('HP:0100859','Dilatation of superior mesenteric artery','Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .'),('HP:0100860','Dilatation of Inferior mesenteric artery','Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .'),('HP:0100861','Sclerotic vertebral body','Increase in bone density of the vertebral body.'),('HP:0100862','Aplasia of the femoral head',''),('HP:0100863','Aplasia of the femoral neck',''),('HP:0100864','Short femoral neck','An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0100865','Broad ischia','Increased width of the ischium, which forms the lower and back part of the hip bone.'),('HP:0100866','Short iliac bones','Underdevelopment of the iliac bones.'),('HP:0100867','Duodenal stenosis','The narrowing or partial blockage of a portion of the duodenum.'),('HP:0100869','Palmar telangiectasia','The presence of telangiectases on the skin of palm of hand.'),('HP:0100870','Plantar telangiectasia','Telangiectases (small dilated blood vessels) located on the skin of sole of foot.'),('HP:0100871','Abnormality of the palm','An abnormality of the palm, that is, of the front of the hand.'),('HP:0100872','Abnormality of the plantar skin of foot','An abnormality of the plantar part of foot, that is of the soles of the feet.'),('HP:0100874','Thick hair','Increased density of hairs, i.e., and elevated number of hairs per unit area.'),('HP:0100875','Hemimacroglossia','Increased length and width of one half of the tounge.'),('HP:0100876','Infra-orbital crease','Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.'),('HP:0100877','Renal diverticulum','Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.'),('HP:0100878','Enlarged uterus',''),('HP:0100879','Enlarged ovaries',''),('HP:0100880','Nephrogenic rest','Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.'),('HP:0100881','Congenital mesoblastic nephroma','Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.'),('HP:0100882','Fibrous hamartoma','A rare, benign soft tissue tumor that typically occurs within the first two years of life.'),('HP:0100883','Chorangioma','Hamartoma-like growth in the placenta consisting of blood vessels.'),('HP:0100884','Compensatory scoliosis','A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.'),('HP:0100885','Lateral venous anomaly','Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.'),('HP:0100886','Abnormality of globe location','An abnormality in the placement of the ocular globe (eyeball).'),('HP:0100887','Abnormality of globe size','An abnormality in the size of the ocular globe (eyeball).'),('HP:0100888','Interdigital loops',''),('HP:0100889','Abnormality of the ductus choledochus','An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.'),('HP:0100890','Cyst of the ductus choledochus',''),('HP:0100891','Bifid xiphoid process','A cleft of the xiphoid process of the sternum.'),('HP:0100892','Abnormality of the xiphoid process','An abnormality of the xiphoid process of the sternum.'),('HP:0100893','Prominent xiphoid process','Increased prominence of the xiphoid process of the sternum.'),('HP:0100894','Broad xiphoid process','Increased side-to-side width of the xiphoid process of the sternum.'),('HP:0100896','Rectal polyposis','The presence of multiple rectal hyperplastic/adenomatous polyps.'),('HP:0100898','Connective tissue nevi','Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.'),('HP:0100899','Sclerosis of finger phalanx','An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100900','Sclerosis of the distal phalanx of the 2nd finger',''),('HP:0100901','Sclerosis of the distal phalanx of the 3rd finger',''),('HP:0100902','Sclerosis of the distal phalanx of the 4th finger',''),('HP:0100903','Sclerosis of the distal phalanx of the 5th finger',''),('HP:0100904','Sclerosis of the middle phalanx of the 2nd finger',''),('HP:0100905','Sclerosis of the middle phalanx of the 3rd finger',''),('HP:0100906','Sclerosis of the middle phalanx of the 4th finger',''),('HP:0100907','Sclerosis of the middle phalanx of the 5th finger',''),('HP:0100908','Sclerosis of the proximal phalanx of the 2nd finger',''),('HP:0100909','Sclerosis of the proximal phalanx of the 3rd finger',''),('HP:0100910','Sclerosis of the proximal phalanx of the 4th finger',''),('HP:0100911','Sclerosis of the proximal phalanx of the 5th finger',''),('HP:0100912','Sclerosis of the distal phalanx of the thumb','An elevation of bone density in the distal phalanx of the thumb.'),('HP:0100913','Sclerosis of the proximal phalanx of the thumb','An elevation of bone density in the proximal phalanx of the thumb.'),('HP:0100914','Sclerosis of the 1st metacarpal',''),('HP:0100915','Sclerosis of distal finger phalanx','An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100916','Sclerosis of middle finger phalanx','An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100917','Sclerosis of proximal finger phalanx','An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100918','Sclerosis of 2nd finger phalanx','An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100919','Sclerosis of 3rd finger phalanx','An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100920','Sclerosis of 4th finger phalanx','An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100921','Sclerosis of 5th finger phalanx','An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100922','Sclerosis of thumb phalanx',''),('HP:0100923','Clavicular sclerosis','An increase in bone density within the clavicle.'),('HP:0100924','Sclerosis of toe phalanx','An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100925','Sclerosis of foot bone','An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100926','Sclerosis of 2nd toe phalanx','An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100927','Sclerosis of 3rd toe phalanx','An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100928','Sclerosis of 4th toe phalanx','An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100929','Sclerosis of 5th toe phalanx','An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100930','Sclerosis of hallux phalanx','An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100931','Sclerosis of the proximal phalanx of the 2nd toe','An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100932','Sclerosis of the proximal phalanx of the 3rd toe','An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100933','Sclerosis of the proximal phalanx of the 4th toe',''),('HP:0100934','Sclerosis of the proximal phalanx of the 5th toe',''),('HP:0100935','Sclerosis of the middle phalanx of the 2nd toe',''),('HP:0100936','Sclerosis of the middle phalanx of the 3rd toe','An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100937','Sclerosis of the middle phalanx of the 4th toe',''),('HP:0100938','Sclerosis of the middle phalanx of the 5th toe',''),('HP:0100939','Sclerosis of the distal phalanx of the 2nd toe',''),('HP:0100940','Sclerosis of the distal phalanx of the 3rd toe','An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100941','Sclerosis of the distal phalanx of the 4th toe',''),('HP:0100942','Sclerosis of the distal phalanx of the 5th toe',''),('HP:0100943','Sclerosis of the proximal phalanx of the hallux',''),('HP:0100944','Sclerosis of the distal phalanx of the hallux',''),('HP:0100945','Sclerosis of the 1st metatarsal',''),('HP:0100946','Sclerosis of proximal toe phalanx','An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100947','Sclerosis of middle toe phalanx','An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100948','Sclerosis of distal toe phalanx','An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100950','Decreased 3-hydroxyacyl-CoA dehydrogenase level',''),('HP:0100951','Enlarged fossa interpeduncularis',''),('HP:0100952','Enlarged sylvian cistern','An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).'),('HP:0100953','Enlarged interhemispheric fissure',''),('HP:0100954','Open operculum','Underdevelopment of the operculum.'),('HP:0100955','Giant cell granuloma of mandible',''),('HP:0100957','Abnormal renal medulla morphology','Any structural abnormality of the medulla of the kidney.'),('HP:0100958','Narrow foramen obturatorium','Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.'),('HP:0100959','Dense metaphyseal bands','Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.'),('HP:0100960','Asymmetric ventricles',''),('HP:0100961','Enlarged hippocampus','Increase in size of the hippocampus.'),('HP:0100962','Shyness',''),('HP:0100963','Hyperesthesia',''),('HP:0200000','Dysharmonic bone age','Different levels of maturation of different bones.'),('HP:0200001','Dysharmonic accelerated bone age','A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.'),('HP:0200003','Splayed epiphyses','Flaring (widening) of the epiphysis.'),('HP:0200005','Abnormal shape of the palpebral fissure','The presence of an abnormal shape of the palpebral fissure.'),('HP:0200006','Slanting of the palpebral fissure',''),('HP:0200007','Abnormal size of the palpebral fissures','An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.'),('HP:0200008','Intestinal polyposis','The presence of multiple polyps in the intestine.'),('HP:0200011','Abnormal length of corpus callosum',''),('HP:0200012','Short corpus callosum',''),('HP:0200013','Neoplasm of fatty tissue','A tumor (abnormal growth of tissue) of adipose tissue.'),('HP:0200015','Symmetric great toe depigmentation',''),('HP:0200016','Acrokeratosis','Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.'),('HP:0200017','Cerebral white matter agenesis','Congenital defect with failure of the development of the cerebral white matter.'),('HP:0200018','Protanomaly','A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.'),('HP:0200020','Corneal erosion','An erosion or abrasion of the cornea`s outermost layer of epithelial cells.'),('HP:0200021','Down-sloping shoulders','Low set, steeply sloping shoulders.'),('HP:0200022','Choroid plexus papilloma','Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.'),('HP:0200023','Priapism','A painful and harmful medical condition in which the erect penis doesn`t return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.'),('HP:0200024','Premature chromatid separation','The presence of premature sister chromatid segregation.'),('HP:0200025','Mandibular pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.'),('HP:0200026','Ocular pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.'),('HP:0200028','Pretibial myxedema','A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.'),('HP:0200029','Vasculitis in the skin',''),('HP:0200030','Punctate vasculitis skin lesions',''),('HP:0200032','Kayser-Fleischer ring','Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.'),('HP:0200034','Papule','A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.'),('HP:0200035','Skin plaque','A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.'),('HP:0200036','Skin nodule','Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.'),('HP:0200037','Skin vesicle','A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.'),('HP:0200039','Pustule','A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.'),('HP:0200040','Epidermoid cyst','Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.'),('HP:0200041','Skin erosion','A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.'),('HP:0200042','Skin ulcer','A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.'),('HP:0200043','Verrucae','Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.'),('HP:0200044','Porokeratosis','A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.'),('HP:0200046','Cat cry','The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.'),('HP:0200047','Chondritis of pinna','Inflammation of the cartilage of the external ear.'),('HP:0200048','Cyanotic episode',''),('HP:0200049','Upper limb hypertonia',''),('HP:0200050','Bracket metacarpal epiphyses',''),('HP:0200053','Hemihypotrophy of lower limb','Shortening of a leg affecting only one side.'),('HP:0200054','Foot monodactyly',''),('HP:0200055','Small hand','Disproportionately small hand.'),('HP:0200056','Macular scar','Scar tissue in the macula.'),('HP:0200057','Marcus Gunn pupil',''),('HP:0200058','Angiosarcoma',''),('HP:0200059','Metastatic angiosarcoma',''),('HP:0200063','Colorectal polyposis','Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.'),('HP:0200064','Asymmetry of iris pigmentation','Asymmetry between the two irides or asymmetry between different parts of one iris.'),('HP:0200065','Chorioretinal degeneration',''),('HP:0200066','Ribbonlike corneal degeneration',''),('HP:0200067','Recurrent spontaneous abortion','Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.'),('HP:0200068','Nonprogressive visual loss',''),('HP:0200070','Peripheral retinal atrophy',''),('HP:0200071','Peripheral vitreoretinal degeneration','A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.'),('HP:0200072','Episodic quadriplegia','Intermittent episodes of paralysis of all four limbs.'),('HP:0200073','Respiratory insufficiency due to defective ciliary clearance',''),('HP:0200083','Severe limb shortening',''),('HP:0200084','Giant cell hepatitis','Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.'),('HP:0200085','Limb tremor',''),('HP:0200094','Frontal open bite',''),('HP:0200095','Anterior open bite',''),('HP:0200096','Triangular-shaped open mouth','A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.'),('HP:0200097','Oral mucosal blisters','Blisters arising in the mouth.'),('HP:0200098','Absent skin pigmentation','Lack of skin pigmentation (coloring).'),('HP:0200099','obsolete Peripheral retinal pigmentation abnormalities',''),('HP:0200101','Decreased/absent ankle reflexes',''),('HP:0200102','Sparse or absent eyelashes',''),('HP:0200104','Absent fifth fingernail','Absence of nail of little finger.'),('HP:0200105','Absent fifth toenail',''),('HP:0200106','Absent/shortened dynein arms',''),('HP:0200107','Shortened inner dynein arms',''),('HP:0200108','Shortened outer dynein arms',''),('HP:0200109','Absent/shortened outer dynein arms',''),('HP:0200111','Absent stapes head',''),('HP:0200113','Aphalangy of hands and feet',''),('HP:0200114','Metabolic alkalosis',''),('HP:0200115','Scalp hair loss',''),('HP:0200116','Distal ileal atresia',''),('HP:0200117','Recurrent upper and lower respiratory tract infections','Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.'),('HP:0200118','Malabsorption of Vitamin B12',''),('HP:0200119','Acute hepatitis','Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.'),('HP:0200120','Chronic active hepatitis','Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.'),('HP:0200122','Atypical or prolonged hepatitis',''),('HP:0200123','Chronic hepatitis','Hepatitis that lasts for more than six months.'),('HP:0200124','Chronic hepatitis due to cryptosporidium infection','Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.'),('HP:0200125','Mitochondrial respiratory chain defects',''),('HP:0200126','obsolete Amyloid cardiomyopathy',''),('HP:0200127','Atrial cardiomyopathy','Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.'),('HP:0200128','Biventricular hypertrophy','Thickening of the heart walls in both ventricles.'),('HP:0200129','obsolete Calcific mitral stenosis',''),('HP:0200133','Lumbosacral meningocele',''),('HP:0200134','Epileptic encephalopathy','A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.'),('HP:0200135','obsolete Macrocephaly due to hydrocephalus',''),('HP:0200136','Oral-pharyngeal dysphagia',''),('HP:0200138','Bilateral choanal atresia/stenosis',''),('HP:0200141','Small, conical teeth',''),('HP:0200143','Megaloblastic erythroid hyperplasia',''),('HP:0200144','obsolete Anaphylactoid purpura',''),('HP:0200146','Mucoid extracellular matrix accumulation','An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat`s pentachrome, Alcian blue, etc.).'),('HP:0200147','Neuronal loss in basal ganglia','A reduction in the number of nerve cells in the basal ganglia.'),('HP:0200148','Abnormal liver function tests during pregnancy',''),('HP:0200149','CSF lymphocytic pleiocytosis','An increased lymphocyte count in the cerebrospinal fluid.'),('HP:0200150','Increased serum bile acid concentration during pregnancy',''),('HP:0200151','Cutaneous mastocytosis','Multifocal dense infiltrates of mast cells in cutaneous tissue.'),('HP:0200153','Agenesis of lateral incisor',''),('HP:0200154','Agenesis of mandibular lateral incisor',''),('HP:0200158','Agenesis of permanent mandibular lateral incisor',''),('HP:0200159','Agenesis of primary mandibular lateral incisor',''),('HP:0200160','Agenesis of maxillary incisor',''),('HP:0200161','Agenesis of mandibular incisor',''),('HP:0400000','Tall chin','Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.'),('HP:0400001','Chin with vertical crease','Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.'),('HP:0400002','Extra concha fold','Folds or ridges within the concha that are distinct from the crus helix.'),('HP:0400003','Focal absence of the external ear','Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).'),('HP:0400004','Long ear','Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.'),('HP:0400005','Short ear','Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.'),('HP:0400007','Polymenorrhea','Frequent menses; menstrual cycles lasting less than 21 days.'),('HP:0400008','Menometrorrhagia','Prolonged/excessive menses and bleeding at irregular intervals.'),('HP:0410000','Abnormality of vomer','An abnormality of the vomer.'),('HP:0410003','Cleft maxillary alveolus','Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.'),('HP:0410004','obsolete Cleft secondary palate',''),('HP:0410005','Cleft hard palate',''),('HP:0410006','Abnormality of ophthalmic artery','Abnormality of the first branch of the internal carotid artery.'),('HP:0410007','obsolete Abnormality of cartilage morphology',''),('HP:0410008','Abnormality of the peripheral nervous system','Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.'),('HP:0410009','Abnormality of the somatic nervous system','Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.'),('HP:0410010','Abnormality of somatic nerve plexus','Any abnormality of the somatic nerve plexus.'),('HP:0410011','Abnormality of masticatory muscle','Any abnormality of the masticatory muscle.'),('HP:0410012','Abnormal mouth floor morphology','Any abnormality of the mouth floor.'),('HP:0410013','Abnormality of the submandibular region','Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.'),('HP:0410014','Abnormality of ganglion','An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.'),('HP:0410015','Abnormality of ganglion of peripheral nervous system','An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.'),('HP:0410016','Abnormality of cranial ganglion','An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.'),('HP:0410017','Otitis externa','Inflammation or infection of the external auditory canal (EAC), the auricle, or both.'),('HP:0410018','Recurrent ear infections','Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.'),('HP:0410019','Epigastric pain','Pain that is localized to the region of the upper abdomen immediately below the ribs.'),('HP:0410020','Fish odor','Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.'),('HP:0410021','Musty odor','Pungent body odor.'),('HP:0410022','Vaginal fish odor','A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).'),('HP:0410023','Abnormal distribution of cell junction proteins in buccal mucosal cells','An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.'),('HP:0410026','Abnormality of the periodontium','Any abnormality of the periodontium.'),('HP:0410027','Alveolar bone loss around teeth','A decrease in the amount of alveolar bone around the root of a tooth.'),('HP:0410028','Recurrent oral herpes','Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.'),('HP:0410030','Cleft lip','A gap in the lip or lips.'),('HP:0410031','Submucous cleft of soft and hard palate','Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.'),('HP:0410032','obsolete Cleft of uvula',''),('HP:0410033','Unilateral alveolar cleft of maxilla','One sided alveolar cleft of the maxilla.'),('HP:0410034','Bilateral alveolar cleft of maxilla','Nonmidline alveolar cleft of the maxilla.'),('HP:0410035','Abnormal T cell activation','Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.'),('HP:0410042','Abnormal liver morphology','Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.'),('HP:0410043','Abnormal neural tube morphology','Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).'),('HP:0410049','Abnormality of radial ray',''),('HP:0410050','Decreased level of 1,5 anhydroglucitol in serum','A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.'),('HP:0410051','Increased level of 3-hydroxy-3-methylglutaric acid in urine',''),('HP:0410052','Increased level of allantoin in serum','An increase in the level of allantoin in the serum.'),('HP:0410053','Increased level of GABA in serum','An increase in the level of GABA in the serum.'),('HP:0410054','Decreased level of GABA in serum','A decrease in the level of GABA in the serum.'),('HP:0410055','Decreased level of erythritol in urine','A decrease in the level of erythritol in the urine.'),('HP:0410056','Decreased level of erythritol in CSF','A decrease in the level of erythritol in the cerebrospinal fluid.'),('HP:0410057','Increased level of D-threitol in plasma','An increase in the level of D-threitol in the plasma.'),('HP:0410058','Increased level of D-threitol in CSF','An increase in the level of D-threitol in the cerebrospinal fluid.'),('HP:0410059','Increased level of D-threitol in urine','An increase in the level of D-threitol in the urine.'),('HP:0410060','Decreased level of D-mannose in urine','A decrease in the level of D-mannose in the urine.'),('HP:0410061','Increased level of galactitol in plasma','An increase in the level of galactitol in the plasma.'),('HP:0410062','Increased level of galactitol in urine','An increase in the level of galactitol in the urine.'),('HP:0410063','Increased level of galactonate in red blood cells','An increase in the level of galactonate in the red blood cells.'),('HP:0410064','Increased level of galactitol in red blood cells','An increase in the level of galactitol in the red blood cells.'),('HP:0410065','Increased level of hippuric acid in blood','An increase in the level of hippuric acid in the blood.'),('HP:0410066','Increased level of hippuric acid in urine','An increase in the level of hippuric acid in the urine.'),('HP:0410067','Increased level of L-fucose in urine','An increase in the level of L-fucose in the urine.'),('HP:0410068','Increased level of L-glutamic acid in blood','An increase in the level of L-glutamic acid in the blood.'),('HP:0410069','Increased level of propylene glycol in blood','An increase in the level of propylene glycol in the blood.'),('HP:0410070','Increased level of ribitol in urine','An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.'),('HP:0410071','Increased level of ribitol in CSF','An increase in the level of ribitol in the cerebral spinal fluid.'),('HP:0410072','Increased level of ribose in urine','An increase in the level of ribose in the urine.'),('HP:0410073','Increased level of ribose in CSF','An increase in the level of ribose in the cerebrospinal fluid.'),('HP:0410074','Increased level of xylitol in urine','An increase in the level of xylitol in the urine.'),('HP:0410075','Increased level of xylitol in CSF','An increase in the level of xylitol in the cerebrospinal fluid.'),('HP:0410132','Increased level of L-pyroglutamic acid in urine','An increase in the level of L-pyroglutamic acid in the urine.'),('HP:0410133','Chronic idiopathic urticaria','Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.'),('HP:0410134','Physical urticaria','Urticaria caused by physical agents, such as heat, cold, light, friction.'),('HP:0410135','Cold urticaria','Urticaria may be caused by cold temperatures.'),('HP:0410136','Aquagenic urticaria','A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.'),('HP:0410137','Solar urticaria','Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.'),('HP:0410138','Vibratory urticaria','Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.'),('HP:0410139','Exercise induced anaphylaxis','Anaphylaxis after physical activity.'),('HP:0410144','Abnormal biotinidase level','An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.'),('HP:0410145','Decreased biotinidase level','A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.'),('HP:0410146','Increased biotinidase level','An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.'),('HP:0410147','Eosinophilic infiltration in the stomach mucosa','Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.'),('HP:0410148','Idiopathic anaphylaxis','A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.'),('HP:0410149','Drug-induced anaphylaxis','A form of anaphylaxis that is triggered by intake of drugs or medications.'),('HP:0410151','Eosinophilic infiltration of the esophagus','Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.'),('HP:0410152','Eosinophilic microabscess formation in the esophagus','The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.'),('HP:0410153','Increased level of methylsuccinic acid in urine','An increase in the level of methylsuccinic acid in the urine.'),('HP:0410154','Increased level of myristic acid in serum','An increase in the level of myristic acid in the serum.'),('HP:0410156','Increased level of N-acetylneuraminic acid in urine','An increase in the level of N-acetylneuraminic acid in the urine.'),('HP:0410157','Increased level of N-acetylneuraminic acid in fibroblasts','An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.'),('HP:0410158','Increased level of O-phosphoethanolamine in urine','An increase in the level of O-phosphoethanolamine in the urine.'),('HP:0410166','Defective interstrand cross-link repair','A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.'),('HP:0410167','Abnormal morphology of the chest musculature','Any abnormality of the chest muscles.'),('HP:0410168','Abnormality of the back musculature','Any abnormality of the back muscles.'),('HP:0410169','Abnormal morphology of the shoulder musculature','Any abnormality of the shoulder muscles.'),('HP:0410170','Hippocampal atrophy','Partial or complete wasting (loss) of hippocampus tissue that was once present.'),('HP:0410171','Increased cotinine level','Increased concentration of cotinine in urine.'),('HP:0410172','Blood xenobiotic','The presence of a xenobiotic in blood.'),('HP:0410173','Increased troponin I level in blood','An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.'),('HP:0410174','Increased troponin T level in blood','An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.'),('HP:0410175','Hyperketonemia','An increase in the level of ketone bodies in the blood.'),('HP:0410176','Abnormal glucose-6-phosphate dehydrogenase level','An anomaly in the level of glucose-6-phosphate dehydrogenase.'),('HP:0410177','Abnormal glucose-6-phosphate dehydrogenase level in blood','An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.'),('HP:0410178','Increased glucose-6-phosphate dehydrogenase level in blood','An increase in the level of glucose-6-phosphate dehydrogenase in the blood.'),('HP:0410179','Decreased glucose-6-phosphate dehydrogenase level in blood','A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.'),('HP:0410180','Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot','An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.'),('HP:0410181','Increased glucose-6-phosphate dehydrogenase level in dried blood spot','An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.'),('HP:0410182','Decreased glucose-6-phosphate dehydrogenase level in dried blood spot','A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.'),('HP:0410183','Abnormal glucose-6-phosphate dehydrogenase level in leukocytes','An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.'),('HP:0410184','Abnormal glucose-6-phosphate dehydrogenase level in red blood cells','An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.'),('HP:0410185','Abnormal glucose-6-phosphate dehydrogenase level in tissue','An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.'),('HP:0410186','Increased glucose-6-phosphate dehydrogenase level in tissue','An increase in the level of glucose-6-phosphate dehydrogenase in tissue.'),('HP:0410187','Decreased glucose-6-phosphate dehydrogenase level in tissue','A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.'),('HP:0410188','Decreased glucose-6-phosphate dehydrogenase level in red blood cells','A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.'),('HP:0410189','Increased glucose-6-phosphate dehydrogenase level in red blood cells','An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.'),('HP:0410190','Decreased glucose-6-phosphate dehydrogenase level in leukocytes','A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.'),('HP:0410191','Increased glucose-6-phosphate dehydrogenase level in leukocytes','An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.'),('HP:0410192','Abnormal uridine diphosphate glucose-4-epimerase level','An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410193','Abnormal uridine diphosphate glucose-4-epimerase level in plasma','An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410194','Increased uridine diphosphate glucose-4-epimerase level in plasma','An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410195','Decreased uridine diphosphate glucose-4-epimerase level in plasma','A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410196','Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells','An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410197','Increased uridine diphosphate glucose-4-epimerase level in red blood cells','An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410198','Decreased uridine diphosphate glucose-4-epimerase level in red blood cells','A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410199','Increased CSF urate concentration','Increased concentration of urate in the cerebrospinal fluid.'),('HP:0410200','Positive meconium barbiturate test','Detection of barbiturate metabolites such as phenobarbital in meconium.'),('HP:0410201','Positive hair barbiturate test','Detection of barbiturate metabolites such as phenobarbital in the hair.'),('HP:0410202','Positive stool barbiturate test','Detection of barbiturate metabolites such as phenobarbital in the stool.'),('HP:0410203','Positive gastric fluid barbiturate test','Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.'),('HP:0410204','Increased intestinal transit time','An increase in the length of time required for food to pass through the intestines.'),('HP:0410205','Abnormal circulating nicotinurate level','Any deviation from the normal concentration of nicotinurate in the blood.'),('HP:0410206','Increased circulating nicotinurate level','An increased amount of nicotinurate in the blood.'),('HP:0410207','Positive methadone plasma/serum test','Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.'),('HP:0410208','Positive plasma/serum cotinine test','Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.'),('HP:0410209','Folate deficiency in CSF','A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.'),('HP:0410210','Abnormal cord blood measurement','An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.'),('HP:0410211','Abnormal blood gas level in cord blood',''),('HP:0410212','Hyperoxemia in cord blood','An abnormally high level of blood oxygen in the cord blood.'),('HP:0410213','Hypoxemia in cord blood','An abnormally low level of blood oxygen in the cord blood.'),('HP:0410214','Hypercapnia in cord blood','Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.'),('HP:0410215','Hypocapnia in cord blood','Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.'),('HP:0410216','Abnormal blood 5-methyltetrahydrofolate level','An abnormal concentration of 5-methyltetrahydrofolate in the blood.'),('HP:0410217','Reduced blood 5-methyltetrahydrofolate level','A decreased concentration of 5-methyltetrahydrofolate in the blood.'),('HP:0410218','Hypoplasia of maxilla relative to mandible','Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).'),('HP:0410219','Hypoplasia of mandible relative to maxilla','Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).'),('HP:0410220','Increased anti-dairy protein IgE antibody level','Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.'),('HP:0410221','Increased anti-animal protein IgE antibody level','Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.'),('HP:0410222','Increased anti-seafood IgE antibody level','Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.'),('HP:0410223','Increased anti-dust mite IgE antibody level','Increased level of IgE antibody against dust mites, such as house dust mites.'),('HP:0410224','Increased anti-bacteria IgE antibody level','Increased level of IgE antibody against bacteria.'),('HP:0410225','Increased anti-drug IgE antibody level','Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.'),('HP:0410226','Increased anti-feather IgE antibody level','Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.'),('HP:0410227','Increased anti-food allergen IgE antibody level','Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.'),('HP:0410228','Increased anti-plant based food allergen IgE antibody level','Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.'),('HP:0410229','Increased anti-gluten IgE antibody level','Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.'),('HP:0410230','Increased anti-nut food product IgE antibody level','Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.'),('HP:0410231','Increased anti-egg IgE antibody level','Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.'),('HP:0410232','Increased anti-fungi IgE antibody level','Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.'),('HP:0410233','Increased anti-meat allergen IgE antibody level','Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.'),('HP:0410234','Increased anti-parasite IgE antibody level','Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.'),('HP:0410235','Increased anti-insect IgE antibody level','Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.'),('HP:0410236','Increased anti-venom IgE antibody level','Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.'),('HP:0410238','Increased anti-plant product IgE antibody level','Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.'),('HP:0410239','Positive urine norcotinine test','Detection of norcotinine, a metabolite of nicotine, in urine.'),('HP:0410240','Abnormal circulating IgA level','An abnormal deviation from normal levels of IgA immunoglobulin in blood.'),('HP:0410241','Abnormal circulating IgE level','An abnormal deviation from normal levels of IgE immunoglobulin in blood.'),('HP:0410242','Abnormal circulating IgG level','An abnormal deviation from normal levels of IgG immunoglobulin in blood.'),('HP:0410243','Abnormal circulating IgM level','An abnormal deviation from normal levels of IgM immunoglobulin in blood.'),('HP:0410244','Abnormal circulating IgD level','An abnormal deviation from normal levels of IgD immunoglobulin in blood.'),('HP:0410245','Decreased circulating IgD','An abnormally decreased level of immunoglobulin D (IgD) in blood.'),('HP:0410246','Increased circulating IgD level','An abnormally increased level of immunoglobulin D in blood.'),('HP:0410247','Increased anti-animal dander IgE antibody level','Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.'),('HP:0410248','Increased anti-house dust mite IgE antibody level','Increased level of IgE antibody against house dust mites, a common allergen.'),('HP:0410249','Increased anti-alpha-gal IgE antibody level','Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.'),('HP:0410251','Abnormal L-selectin shedding','An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.'),('HP:0410252','Chronic neutropenia','Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.'),('HP:0410253','Chronic neutropenia in myeloid maturation arrest in bone marrow','Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.'),('HP:0410254','Cyclic neutropenia in myeloid maturation arrest in bone marrow','Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.'),('HP:0410255','Transient neutropenia','A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.'),('HP:0410256','Infection associated neutropenia','Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.'),('HP:0410257','Neutrophilia in presence of infection','An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.'),('HP:0410258','Neutrophilia in absence of infection','An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.'),('HP:0410259','Hepatopulmonary fusion','Fusion of the liver with the lung.'),('HP:0410260','Asymmetrical gluteal crease','The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.'),('HP:0410261','Wide space between 4th and 5th toe','A widely spaced gap between the fourth toe and the fifth (pinky) toe.'),('HP:0410262','Lower cranial nerve dysfunction','A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.'),('HP:0410263','Brain imaging abnormality','An anomaly of metabolism or structure of the brain identified by imaging.'),('HP:0410264','Subglottic hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.'),('HP:0410265','Supraglottic hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.'),('HP:0410266','Visceral hemangioma','A hemangioma arising from within visceral structures, the internal organs of the body.'),('HP:0410267','Intestinal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.'),('HP:0410268','Spleen hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.'),('HP:0410269','Labial hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.'),('HP:0410270','Esophageal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.'),('HP:0410271','Laryngeal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.'),('HP:0410272','Vulvar hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.'),('HP:0410273','Retropharyngeal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.'),('HP:0410274','Paraspinal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.'),('HP:0410275','Lumbosacral hemangioma','A spinal cord hemangioma located in the lumbosacral spine region.'),('HP:0410276','Supraumbilical raphe','An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).'),('HP:0410277','Sternal pit','A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.'),('HP:0410278','Pituitary gland cyst','A fluid-filled sacs that develop on or near the pituitary gland.'),('HP:0410279','Atrophic pituitary gland','Partial or complete wasting (loss) of the pituitary gland.'),('HP:0410280','Pediatric onset','Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.'),('HP:0410281','Dyspepsia','A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.'),('HP:0410282','Abnormal circulating amylase level','A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.'),('HP:0410283','Positive blood acetaminophen test','Detection of acetaminophen in the blood.'),('HP:0410284','Positive norpropoxyphene blood test','Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.'),('HP:0410285','Positive meconium methadone test','Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.'),('HP:0410286','Positive blood molindone test','Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.'),('HP:0410287','Intrathoracic hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.'),('HP:0410288','Hyperamylasemia','Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.'),('HP:0410289','Hypoamylasemia','Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.'),('HP:0410290','Positive urine norpropoxyphene test','Detection of norpropoxyphene in urine.'),('HP:0410291','Negativism','Opposing or not responding to instructions or external stimuli.'),('HP:0410292','Abnormal isohemagglutinin level','An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).'),('HP:0410293','Absent isohemagglutinin level','Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).'),('HP:0410294','Decreased specific antibody response to protein vaccine','A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0410295','Complete or near-complete absence of specific antibody response to tetanus vaccine','The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410296','Complete or near-complete absence of specific antibody response to hepatitis B vaccine','The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.'),('HP:0410297','Partial absence of specific antibody response to tetanus vaccine','A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410298','Partial absence of specific antibody response to hepatitis B vaccine','A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.'),('HP:0410299','Decreased specific antibody response to polysaccharide vaccine','A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0410300','Complete or near-complete absence of specific antibody response to pneumococcus vaccine','The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410301','Partial absence of specific antibody response to pneumococcus vaccine','A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410302','Decreased specific antibody response to protein-conjugated polysaccharide vaccine','A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0410303','Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine','The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.'),('HP:0410304','Complete or near-complete absence of specific antibody response to meningococcus vaccine','The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410305','Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine','A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.'),('HP:0410306','Partial absence of specific antibody response to meningococcus vaccine','A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410307','Positive stool methadone test','Detection of methadone and its metabolites in the stool.'),('HP:0410308','Decreased specific antibody response to infection','A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.'),('HP:0410309','Alpha-aminoadipic aciduria','A increased concentration of alpha-aminoadipic acid in the urine.'),('HP:0410310','Abnormality of neutrophil morphology in CSF','An abnormal form or size of neutrophils in the cerebrospinal fluid.'),('HP:0410311','Hyposegmentation of neutrophil nuclei in CSF','Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.'),('HP:0410312','Hypersegmentation of neutrophil nuclei in CSF','An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.'),('HP:0410313','Abnormal urinary 1-methylhistidine concentration','Abnormal concentration of 1-methylhistidine in the urine.'),('HP:0410314','Decreased urinary 1-methylhistidine','Decreased concentration of 1-methylhistidine in the urine.'),('HP:0410315','Increased urinary 1-methylhistidine','Increased concentration of 1-methylhistidine in the urine.'),('HP:0410316','Abnormal urinary 3-methylhistidine concentration','Abnormal concentration of 3-methylhistidine in the urine.'),('HP:0410317','Increased urinary 3-methylhistidine','Increased concentration of 3-methylhistidine in the urine.'),('HP:0410318','Decreased urinary 3-methylhistidine','Decreased concentration of 3-methylhistidine in the urine.'),('HP:0410319','Alpha-gal allergy','Hypersensitivity in form of an adverse immune reaction against alpha-gal.'),('HP:0410320','Animal protein allergy','Hypersensitivity in form of an adverse immune reaction against animal proteins.'),('HP:0410321','Animal dander allergy','Hypersensitivity in form of an adverse immune reaction against animal dander.'),('HP:0410322','Bacteria allergy','Hypersensitivity in form of an adverse immune reaction against bacteria.'),('HP:0410323','Drug allergy','Hypersensitivity in form of an adverse immune reaction against drugs.'),('HP:0410324','Dust mite allergy','Hypersensitivity in form of an adverse immune reaction against dust mites.'),('HP:0410325','House dust mite allergy','Hypersensitivity in form of an adverse immune reaction against house dust mites.'),('HP:0410326','Feather allergy','Hypersensitivity in form of an adverse immune reaction against feathers.'),('HP:0410327','Dairy allergy','Hypersensitivity in form of an adverse immune reaction against dairy.'),('HP:0410328','Egg allergy','Hypersensitivity in form of an adverse immune reaction against eggs.'),('HP:0410329','Gluten allergy','Hypersensitivity in form of an adverse immune reaction against gluten.'),('HP:0410330','Meat allergen allergy','Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.'),('HP:0410331','Nut food product allergy','Hypersensitivity in form of an adverse immune reaction against nut food products.'),('HP:0410332','Plant based food allergy','Hypersensitivity in form of an adverse immune reaction against plant based food allergens.'),('HP:0410333','Seafood allergy','Hypersensitivity in form of an adverse immune reaction against seafood.'),('HP:0410334','Fungi allergy','Hypersensitivity in form of an adverse immune reaction against fungus.'),('HP:0410335','Insect allergy','Hypersensitivity in form of an adverse immune reaction against insects.'),('HP:0410336','Venom allergy','Hypersensitivity in form of an adverse immune reaction against insect venom.'),('HP:0410337','Parasite allergy','Hypersensitivity in form of an adverse immune reaction against parasites.'),('HP:0410338','Plant product allergy','Hypersensitivity in form of an adverse immune reaction against plant products.'),('HP:0410339','Insect bite allergy','Hypersensitivity in form of an adverse immune reaction against insect bites.'),('HP:0410340','Focal epithelial hyperplasia of oral mucosa','The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.'),('HP:0410341','Abnormal circulating heparan sulfate level','An abnormal level of heparan sulfate in the blood.'),('HP:0410342','Increased circulating heparan sulfate level','An abnormal increase in the concentration of heparan sulfate in the blood.'),('HP:0410343','Decreased circulating heparan sulfate level','An abnormal decrease in the concentration of heparan sulfate in the blood.'),('HP:0410344','Shortened O-fucosylated glycan on properdin','Decreased length of O-fucosylated glycans present on properdin.'),('HP:0410345','Increased urinary polyhexose','An abnormal increase in the concentration of polyhexose in the urine.'),('HP:0410346','Increased urinary galactosylated oligosaccharide','An abnormal increase in the concentration of galactosylated oligosaccharides in urine.'),('HP:0410347','Increased urinary high-mannose-type oligosaccharide','An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.'),('HP:0410348','Increased urinary multiantennary sialylated oligosaccharide','An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.'),('HP:0410349','Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level','An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.'),('HP:0410350','Increased urinary fucosylated oligosaccharide','An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.'),('HP:0410351','Abnormal complex N-glycan level','An abnormal concentration of complex N-glycans on glycoproteins.'),('HP:0410352','Increased complex N-glycan level','An abnormal increase in the concentration of complex N-glycans on glycoproteins.'),('HP:0410353','Decreased complex N-glycan level','An abnormal decrease in the concentration of complex N-glycans on glycoproteins.'),('HP:0410354','Increased sialylated N-glycan level','An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.'),('HP:0410355','Decreased sialylated N-glycan level','An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.'),('HP:0410356','Abnormal high-mannose N-glycan level','An abnormal concentration of high-mannose N-glycans on glycoproteins.'),('HP:0410357','Increased high-mannose N-glycan level','An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.'),('HP:0410358','Decreased high-mannose N-glycan level',''),('HP:0410359','Abnormal core 1 O-glycan level','An abnormal in the concentration of core 1 O-glycans on glycoproteins.'),('HP:0410360','Increased core 1 O-glycan level','An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.'),('HP:0410361','Decreased core 1 O-glycan level','An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.'),('HP:0410362','Decreased O-mannosyl glycans on alpha-dystroglycan','Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.'),('HP:0410363','Increased monosialylated core 1 O-glycan level','An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.'),('HP:0410364','Decreased monosialylated core 1 O-glycan level','An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.'),('HP:0410365','Increased disialylated core 1 O-glycan level','An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.'),('HP:0410366','Increased globoside Gb4 level','An abnormal increase in the concentration of globoside Gb4.'),('HP:0410367','Increased hepatitis A virus antibody level','An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.'),('HP:0410368','Increased globoside Gb3 level','An abnormal increase in the concentration of glycolipid globoside Gb3.'),('HP:0410369','Increased hepatitis B virus antibody level','An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.'),('HP:0410370','Absence of ganglioside GM3','The absence of ganglioside GM3.'),('HP:0410371','Increased hepatitis C virus antibody level','An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.'),('HP:0410372','Increased Tn-antigen level','An abnormal increase in the concentration of Tn antigen on glycoproteins.'),('HP:0410373','Abnormal proportion of naive CD4 T cells','Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.'),('HP:0410374','Abnormal proportion of naive CD8 T cells','Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.'),('HP:0410375','Increased proportion of naive CD4 T cells',''),('HP:0410376','Increeased proportion of naive CD8 T cells','An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.'),('HP:0410377','Decreased proportion of naive CD8 T cells','An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.'),('HP:0410378','Decreased proportion of naive CD4 T cells','An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.'),('HP:0410379','Abnormal proportion of CD4-positive, alpha-beta memory T cells','An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410380','Abnormal proportion of CD8-positive, alpha-beta memory T cells','An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410381','Abnormal proportion of central memory CD4-positive, alpha-beta T cells','An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410382','obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells',''),('HP:0410383','Abnormal proportion of effector memory CD8-positive, alpha-beta T cells','An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410384','Abnormal proportion of central memory CD8-positive, alpha-beta T cells','An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410385','Decreased proportion of CD8-positive, alpha-beta memory T cells','Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410386','Decreased proportion of CD4-positive, alpha-beta memory T cells','Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410387','obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells',''),('HP:0410388','Decreased proportion of central memory CD4-positive, alpha-beta T cells','A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410389','Decreased proportion of central memory CD8-positive, alpha-beta T cells','A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410390','Decreased proportion of effector memory CD8-positive, alpha-beta T cells','A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410391','Increased proportion of CD4-positive, alpha-beta memory T cells','An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410392','Increased proportion of CD8-positive, alpha-beta memory T cells','An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410393','Increased proportion of central memory CD4-positive, alpha-beta T cells','An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410394','Increased proportion of effector memory CD4-positive, alpha-beta T cells','An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410395','Increased proportion of effector memory CD8-positive, alpha-beta T cells','An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410396','Increased proportion of central memory CD8-positive, alpha-beta T cells','An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410397','Bronchiolectasis','Saccular dilatation of the terminal bronchioles.'),('HP:0410399','Positive blood lead test','Detection of lead in the blood.'),('HP:0410400','Absent sebaceous glands','Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.'),('HP:0410401','Worse in evening','Applies to a sign or symptom that is exacerbated in the evening as compared to the day.'),('HP:0430000','Abnormality of the frontal bone','An abnormality of the frontal bone.'),('HP:0430002','Abnormality of the lacrimal bone','An abnormality of the lacrimal bone.'),('HP:0430003','Abnormality of the palatine bone','An abnormality of the palatine bone.'),('HP:0430004','Frontomalar faciosynostosis',''),('HP:0430005','Abnormality of ethmoid bone','An abnormality of the ethmoid bone'),('HP:0430006','Ectopic cilia of eyelid','An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.'),('HP:0430007','Symblepharon','A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.'),('HP:0430008','Accessory eyelid','The presence of more than the normal number of eyelids.'),('HP:0430009','Hypoplasia of eyelid','Developmental hypoplasia of the eyelid.'),('HP:0430010','Microblepharia','Abnormal shortness of the vertical dimensions of the eyelids.'),('HP:0430011','Defect of palpebral conjunctiva','An abnormality of the palpebral conjunctiva.'),('HP:0430012','Incomplete ossification of palatine bone','Failure to complete ossification (maturation and calcification) of the palatine bone.'),('HP:0430013','Absent palatine bone ossification','Lack of formation of the palatine bone.'),('HP:0430014','Abnormality of musculature of soft palate','An abnormality of one or more of the five muscles of the soft palate.'),('HP:0430015','Abnormal morphology of musculature of pharynx','An abnormality of any of the muscles of the pharynx.'),('HP:0430016','Abnormality of tensor veli palatini muscle','An abnormality of the tensor veli palatini muscle'),('HP:0430017','Abnormality of uvular muscle','An abnormality of the uvular muscle'),('HP:0430018','Abnormality of nasal musculature','An abnormality of the muscles of the structure of the nose.'),('HP:0430019','Abnormality of muscle of facial expression','An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.'),('HP:0430020','Abnormality of levator labii superioris alaeque nasi muscle','An abnormality of the levator labii superioris alaeque nasi muscle.'),('HP:0430021','Abnormal common carotid artery morphology','An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.'),('HP:0430022','Abnormality of the sphenoid sinus','An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.'),('HP:0430023','Abnormality of the maxillary sinus','An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.'),('HP:0430024','Abnormality of external jugular vein','An abnormality of an external jugular vein of the neck.'),('HP:0430025','Bilateral facial palsy','Two-sided or bilateral weakness of the muscles of facial expression and eye closure.'),('HP:0430026','Abnormality of the shape of the midface','An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims.'),('HP:0430028','Hyperplasia of the maxilla','Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.'),('HP:0430029','Hyperplasia of the premaxilla','An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.'),('HP:0500001','Body odor','A perceived unpleasant smell given off by the body.'),('HP:0500005','Anal pain','Pain in and around the anus or rectum (perianal region).'),('HP:0500006','Urethritis','Inflammation of the urethra.'),('HP:0500007','Iris flocculi','Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.'),('HP:0500008','Cornea verticillata','Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.'),('HP:0500009','Dysplastic gangliocytoma of the cerebellum','It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.'),('HP:0500010','obsolete Increased cholesterol esters',''),('HP:0500011','Moon facies','A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.'),('HP:0500012','Abnormality of gonadotropin-releasing hormone level','A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.'),('HP:0500013','Lack of gonadotropin-releasing hormone pulsatility','Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.'),('HP:0500014','obsolete Abnormal test result',''),('HP:0500015','Abnormal cardiac test','Abnormal test result of cardiovascular physiology.'),('HP:0500016','Abnormal cardiac MRI','Abnormal results of a MRI for the heart.'),('HP:0500017','Abnormal cardiac catheterization','Abnormal results from the diagnostic tests resulting from cardiac catheterization.'),('HP:0500018','Abnormal cardiac exercise stress test','Abnormal results of exercise on heart function.'),('HP:0500019','Abnormal resting energy expenditure from metabolic cart test','Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).'),('HP:0500020','Abnormal cardiac biomarker test','Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.'),('HP:0500021','Reduced brain gamma-aminobutyric acid level by MRS','An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0500022','Abnormal serum dehydroepiandrosterone level','A deviation from the normal concentration of dehydroepiandrosterone in the circulation.'),('HP:0500023','Shoulder muscle aplasia','Absence of shoulder muscles.'),('HP:0500024','Aplasia of the musculature of the pelvis','Absence of the musculature of the pelvis.'),('HP:0500026','Hypoplasia of the musculature of the pelvis','Underdevelopment of the musculature of the pelvis.'),('HP:0500027','Aplastic colon','Congenital absence of the colon'),('HP:0500028','Cotton wool plaques','Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.'),('HP:0500030','Abnormal hepatic glycogen storage','Change in normal glycogen storage content.'),('HP:0500031','Sclerosis of the carpal bones','An elevation in bone density in one or more carpal bones of the hand.'),('HP:0500032','Abnormal neuron branching','Abnormality of the structure and branching of the dendrites of a neuron.'),('HP:0500033','Abnormal natural killer subset distribution','Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.'),('HP:0500034','Nasolacrimal sac obstruction','Blockage of the nasolacrimal sac.'),('HP:0500035','Nasolacrimal sac granuloma','A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.'),('HP:0500036','Nasolacrimal sac papilloma','Benign tumor of the nasolacrimal sac.'),('HP:0500037','Nasolacrimal sac epithelial papillary carcinoma','The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.'),('HP:0500039','Conjunctival cicatrization','An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.'),('HP:0500040','Dermolipoma of the conjunctiva','A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.'),('HP:0500041','Myopic astigmatism','A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.'),('HP:0500042','Latent hypermetropia','A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.'),('HP:0500043','Eyelid retraction','With the eyes in primary position, the sclera is visible above the superior corneal limbus.'),('HP:0500044','Upper eyelid retraction','An elevation of the eyelid above the normal level in the primary position.'),('HP:0500045','Collier`s sign','A unilateral or bilateral eyelid retraction due to midbrain lesions.'),('HP:0500046','Seborrhoeic blepharitis','Inflamation of the eyelid due to overactivity of the sebaceous gland.'),('HP:0500047','Nasolacrimal sac lymphoma','A type of lymphoma that involves the nasolacrimal sac.'),('HP:0500048','Delayed canalization of nasolacrimal duct','A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.'),('HP:0500049','Retinopathy of prematurity','An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.'),('HP:0500050','Retinopathy of prematurity stage 1','The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.'),('HP:0500051','Retinopathy of prematurity stage 2','The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.'),('HP:0500052','Retinopathy of prematurity stage 3','The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.'),('HP:0500053','Retinopathy of prematurity stage 4','Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.'),('HP:0500054','Retinopathy of prematurity stage 4a','A detachment that involves the peripheral retina that does not extend into the macula.'),('HP:0500055','Retinopathy of prematurity stage 4b','A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.'),('HP:0500056','Retinopathy of prematurity stage 5','Funnel detachment from the retina with generally traction in all four quadrants.'),('HP:0500057','Retinopathy of prematurity stage 5a','An open funnel detachment of the retina with generally traction in all four quadrants.'),('HP:0500058','Retinopathy of prematurity stage 5b','A closed funnel detachment of the retina with generally traction in all four quadrants.'),('HP:0500059','Retinopathy of prematurity zone I','Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.'),('HP:0500060','Retinopathy of prematurity zone II','Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.'),('HP:0500061','Retinopathy of prematurity zone III','Retinopathy which is a residual crescent of retina anterior to zone II.'),('HP:0500062','Retinopathy of prematurity plus','Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.'),('HP:0500063','Retinopathy of prematurity pre-plus','As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.'),('HP:0500064','Retinopathy of prematurity threshold','A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.'),('HP:0500065','Retinopathy of prematurity prethreshold','High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.'),('HP:0500066','Latent myopia','The difference between total and manifest myopia.'),('HP:0500069','Paralytic ectropion','A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.'),('HP:0500070','Conjunctival dermolipoma','A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.'),('HP:0500072','Absolute eccentric fixation','Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.'),('HP:0500073','Abnormal ocular alignment','Any deviation from the normal ocular alignment.'),('HP:0500074','Dissociated vertical deviation','An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.'),('HP:0500075','Dissociated horizontal deviation','A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.'),('HP:0500076','Alternating hypertropia','A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.'),('HP:0500077','Alternating hyperphoria','A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.'),('HP:0500078','Alternating hypotropia','A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.'),('HP:0500079','Alternating hypophoria','A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.'),('HP:0500081','Pseudophakia','The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).'),('HP:0500086','Optic nerve gray crescent','Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.'),('HP:0500087','Peripapillary atrophy','Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.'),('HP:0500088','Foveal depigmentation','Loss of pigment in the fovea centralis.'),('HP:0500089','Optic nerve sheath meningioma','A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.'),('HP:0500090','Periocular capillary hemangioma','A capillary hemangioma surrounding the eyeball but within the orbit.'),('HP:0500091','Lymphangioma of the orbit','A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.'),('HP:0500092','Orbital rhabdomyosarcoma','A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.'),('HP:0500093','Food allergy','Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.'),('HP:0500094','Latex allergy','Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.'),('HP:0500095','Food-induced anaphylaxis','Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.'),('HP:0500096','Venom-induced anaphylaxis','A form of anaphylaxis that is triggered by exposure to venom.'),('HP:0500097','Stool xenobiotic','Presence of xenobiotic in stool.'),('HP:0500098','Meconium xenobiotic','Presence of a xenobiotic in meconium.'),('HP:0500099','Hair xenobiotic','Presence of xenobiotic in hair.'),('HP:0500100','Plasma/serum xenobiotic','Presence of a xenobiotic in plasma and/or serum.'),('HP:0500101','Gastric fluid xenobiotic','Presence of a xenobiotic in gastric fluid.'),('HP:0500104','Decreased diastolic blood pressure','Abnormal decrease in diastolic blood pressure.'),('HP:0500105','Decreased systolic blood pressure','Abnormal decrease in systolic blood pressure.'),('HP:0500106','Isolated systolic hypertension','Elevated systolic blood pressure without an elevated blood pressure.'),('HP:0500107','Isolated diastolic hypotension','A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).'),('HP:0500108','Positive urine cocaine test','Detection of cocaine or its major metabolite, benzoylecgonine, in urine.'),('HP:0500109','Positive urine barbiturate test','Detection of barbiturate metabolites such as Phenobarbital in urine.'),('HP:0500110','Positive urine cannabinoid test','Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.'),('HP:0500111','Positive urine benzodiazepines test','Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.'),('HP:0500112','Positive urine amphetamine test','Detection of amphetamine or its metabolites in urine.'),('HP:0500113','Positive urine opioid test','Detection of opioids or opioid metabolites in urine.'),('HP:0500114','Abnormal stool urobilinogen concentration','Abnormal concentration of urobilinogen present in the stool.'),('HP:0500115','Increased stool urobilinogen concentration','An increased amount of urobilinogen present in the stool.'),('HP:0500116','Positive blood barbiturate test','Detection of barbiturate metabolites such as Phenobarbital in blood.'),('HP:0500117','Abnormal CSF urate concentration','Abnormal concentration of urate in the cerebrospinal fluid (CSF).'),('HP:0500132','Hypovalinemia','A decreased amount of valine in the blood.'),('HP:0500133','Hypotyrosinemia','An decreased concentration of tyrosine in the blood.'),('HP:0500134','Hypertryptophanemia','An increased amount of tryptophan in the blood.'),('HP:0500135','Hypotryptophanemia','A decreased amount of tryptophan in the blood.'),('HP:0500136','Hypothreoninemia','A decreased amount of threonine in the blood.'),('HP:0500138','Hyperserinemia','An increased amount of serine in the blood.'),('HP:0500139','Hypoprolinemia','A decreased amount of proline in the blood.'),('HP:0500140','Decreased circulating hydroxyproline concentration','A decreased amount of hydroxyproline in the blood.'),('HP:0500141','Hypophenylalaninemia','A decreased amount of phenylalanine in the blood.'),('HP:0500142','Hypolysinemia','A decreased amount of lysine in the blood.'),('HP:0500143','Hypoleucinemia','Decreased amount of leucine in the blood.'),('HP:0500144','Hypoisoleucinemia','A decreased amount of isoleucine in the blood.'),('HP:0500145','Hypohistidinemia','A decreased amount of histidine in the blood.'),('HP:0500147','Hypoglutaminemia','Decreased amount of glutamine in the blood.'),('HP:0500148','Abnormal circulating glutamate concentration','Any deviation from the normal concentration of glutamate in the blood circulation.'),('HP:0500149','Hyperglutamatemia','An increased amount of glutamate in the blood.'),('HP:0500150','Hypoglutamatemia','A decreased amount of glutamate in the blood.'),('HP:0500151','Hypercystinemia','An increased amount of cystine in the blood.'),('HP:0500152','Hypocystinemia','A decreased amount of cystine in the blood.'),('HP:0500153','Hyperargininemia','An increased amount of arginine levels in the blood.'),('HP:0500154','Hypoalaninemia','A decreased amount of alanine in the blood.'),('HP:0500155','Abnormal circulating asparagine concentration','Any deviation from the normal concentration of asparagine in the blood circulation.'),('HP:0500156','Hyperasparaginemia','An increased amount of asparagine in the blood.'),('HP:0500157','Hypoasparaginemia','A decreased amount of asparagine in the blood.'),('HP:0500158','Abnormal circulating aspartic acid concentration','Any deviation from the normal concentration of aspartate in the blood circulation.'),('HP:0500159','Increased level of circulating aspartic acid','An increased amount of aspartic acid in the blood.'),('HP:0500160','Abnormal circulating carnosine concentration','Any deviation from the normal concentration of carnosine in the blood circulation.'),('HP:0500161','Increased level of carnosine in blood','An increased amount of carnosine in the blood.'),('HP:0500162','Decreased level of carnosine in blood','A decreased amount of carnosine in bood.'),('HP:0500163','Hypoornithinemia','An abnormal decrease in ornithine in the blood.'),('HP:0500164','Abnormal blood carbon dioxide level','An abnormality of carbon dioxide (CO2) in the arterial blood.'),('HP:0500165','Abnormal blood oxygen level','An abnormality of the partial pressure of oxygen in the arterial blood.'),('HP:0500166','Abnormal circulating gastrin level','An abnormal concentration of gastrin in the blood.'),('HP:0500167','Hypergastrinemia','An elevated amount of gastrin in the blood.'),('HP:0500170','Abnormal concentration of acylcarnitine in the urine','An abnormal amount of acylcarnitine in the urine.'),('HP:0500173','Reflex asystolic syncope','A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.'),('HP:0500180','Abnormal circulating amino sulfonic acid concentration',''),('HP:0500181','Hypertaurinemia','An increased amount of taurine in the blood.'),('HP:0500182','Hypotaurinemia','A decreased amount of taurine in the blood.'),('HP:0500183','Abnormal CSF carboxylic acid concentration','Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.'),('HP:0500184','Abnormal CSF amino acid concentration','Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.'),('HP:0500185','Abnormal CSF branched chain amino acid concentration','Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.'),('HP:0500186','Abnormal CSF valine concentration','Any deviation from the normal concentration of valine in the cerebrospinal fluid.'),('HP:0500187','Increased CSF valine concentration','Any increased amount from normal of valine in the cerebrospinal fluid.'),('HP:0500188','Decreased CSF valine concentration','Any decreased amount from normal of valine in the cerebrospinal fluid.'),('HP:0500189','Abnormal CSF leucine concentration','Any deviation from the normal concentration of leucine in the cerebrospinal fluid.'),('HP:0500190','Decreased CSF leucine concentration','Abnormally decreased levels of leucine in the cerebrospinal fluid.'),('HP:0500191','Increased CSF leucine concentration','Abnormally increased levels of leucine in cerebrospinal fluid.'),('HP:0500192','Abnormal CSF isoleucine concentration','Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.'),('HP:0500193','Increased CSF isoleucine concentration','Abnormally increased levels of isoleucine in cerebrospinal fluid.'),('HP:0500194','Decreased CSF isoleucine concentration','Abnormally decreased levels of isoleucine in cerebrospinal fluid.'),('HP:0500195','Abnormal CSF glutamine family amino acid concentration','Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.'),('HP:0500196','Abnormal CSF glutamine concentration','Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.'),('HP:0500197','Increased CSF glutamine concentration','Abnormally increased levels of glutamine in cerebrospinal fluid.'),('HP:0500198','Decreased CSF glutamine concentration','Abnormally decreased levels of glutamine in cerebrospinal fluid.'),('HP:0500199','Abnormal CSF glutamate concentration','Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.'),('HP:0500200','Increased CSF glutamate concentration','Abnormally increased levels of glutamic acid in cerebrospinal fluid.'),('HP:0500201','Decreased CSF glutamate concentration','Abnormally decreased levels of glutamic acid in cerebrospinal fluid.'),('HP:0500202','Abnormal CSF arginine concentration','Any deviation from the normal concentration of arginine in the cerebrospinal fluid.'),('HP:0500203','Increased CSF arginine concentration','Abnormally increased levels of arginine in cerebrospinal fluid.'),('HP:0500204','Decreased CSF arginine concentration','Abnormally decreased levels of arginine in cerebrospinal fluid.'),('HP:0500205','Abnormal CSF aspartate family amino acid concentration','Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.'),('HP:0500206','Abnormal CSF lysine concentration','Any deviation from the normal concentration of lysine in the cerebrospinal fluid.'),('HP:0500207','Decreased CSF lysine concentration','Abnormally decreased levels of lysine in cerebrospinal fluid.'),('HP:0500208','Increased CSF lysine concentration','Abnormally increased levels of lysine in cerebrospinal fluid.'),('HP:0500209','Abnormal CSF methionine concentration','Any deviation from the normal concentration of methionine in the cerebrospinal fluid.'),('HP:0500210','Increased CSF methionine concentration','Abnormally increased levels of methionine in cerebrospinal fluid.'),('HP:0500211','Abnormal CSF threonine concentration','Any deviation from the normal concentration of threonine in the cerebrospinal fluid.'),('HP:0500212','Increased CSF threonine concentration','Abnormally increased levels of threonine in cerebrospinal fluid.'),('HP:0500213','Decreased CSF threonine concentration','Abnormally decreased levels of threonine in cerebrospinal fluid.'),('HP:0500214','Abnormal CSF aromatic amino acid concentration','Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.'),('HP:0500215','Abnormal CSF phenylalanine concentration','Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.'),('HP:0500216','Abnormal CSF aspartate concentration','Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.'),('HP:0500217','Increased CSF aspartate concentration','Abnormally increased levels of aspartic acid in cerebrospinal fluid.'),('HP:0500218','Abnormal CSF tryptophan concentration','Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.'),('HP:0500219','Abnormal CSF tyrosine concentration','Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.'),('HP:0500220','Increased CSF tyrosine concentration','Abnormally increased levels of tyrosine in cerebrospinal fluid.'),('HP:0500221','Decreased CSF tyrosine concentration','Abnormally decreased levels of tyrosine in cerebrospinal fluid.'),('HP:0500222','Increased CSF tryptophan concentration','Abnormally increased levels of tryptophan in cerebrospinal fluid.'),('HP:0500223','Increased CSF phenylalanine concentration','Abnormally increased levels of phenylalanine in cerebrospinal fluid.'),('HP:0500224','Decreased CSF phenylalanine concentration','Abnormally decreased levels of phenylalanine in cerebrospinal fluid.'),('HP:0500225','Abnormal CSF serine family amino acid concentration','Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.'),('HP:0500226','Abnormal CSF serine concentration','Any deviation from the normal concentration of serine in the cerebrospinal fluid.'),('HP:0500227','Increased CSF serine concentration','Abnormally increased levels of serine in cerebrospinal fluid.'),('HP:0500228','Decreased CSF serine concentration','Abnormally decreased levels of serine in cerebrospinal fluid.'),('HP:0500229','Abnormal CSF glycine concentration','Any deviation from the normal concentration of glycine in the cerebrospinal fluid.'),('HP:0500230','Increased CSF glycine concentration','Abnormally increased levels of glycine in cerebrospinal fluid.'),('HP:0500231','Abnormal CSF pyruvate family amino acid concentration','Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.'),('HP:0500232','Abnormal CSF alanine concentration','Any deviation from the normal concentration of alanine in the cerebrospinal fluid.'),('HP:0500233','Increased CSF alanine concentration','Abnormally increased levels of alanine in cerebrospinal fluid.'),('HP:0500234','Decreased CSF alanine concentration','Abnormally decreased levels of alanine in cerebrospinal fluid.'),('HP:0500235','Abnormal CSF histidine concentration','Any deviation from the normal concentration of histidine in the cerebrospinal fluid.'),('HP:0500236','Increased CSF histidine concentration','Abnormally increased levels of histidine in cerebrospinal fluid.'),('HP:0500237','Decreased CSF histidine concentration','Abnormally decreased levels of histidine in cerebrospinal fluid.'),('HP:0500238','Abnormal CSF albumin concentration','Any deviation from the normal concentration of albumin in the cerebrospinal fluid.'),('HP:0500239','Increased CSF albumin concentration',''),('HP:0500240','Abnormal CSF carnosine concentration','Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.'),('HP:0500241','Abnormal CSF homocarnosine concentration','Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.'),('HP:0500242','Increased CSF homocarnosine concentration','Abnormally increased levels of homocarnosine in cerebrospinal fluid.'),('HP:0500243','Abnormal CSF ornithine concentration','Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.'),('HP:0500244','Increased CSF ornithine concentration','Abnormally increased levels of ornithine in cerebrospinal fluid.'),('HP:0500245','Abnormal CSF citrulline concentration','Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.'),('HP:0500246','Increased CSF citrulline concentration','Abnormally increased levels of citrulline in cerebrospinal fluid.'),('HP:0500247','Abnormal CSF alpha-aminobutyrate concentration','Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.'),('HP:0500248','Increased CSF alpha-aminobutyrate concentration','Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.'),('HP:0500249','Abnormal circulating ethanolamine concentration','Any deviation from the normal concentration of ethanolamine in circulation.'),('HP:0500250','Increased circulating ethanolamine concentration','Abnormally increased levels of ethanolamine in circulation.'),('HP:0500251','Abnormal urine sebacic acid concentration','Abnormal concentration of sebacic acid in the urine.'),('HP:0500252','Increased urine sebacic acid concentration','Elevated concentration of sebacic acid in the urine.'),('HP:0500253','Increased level of gamma-aminobutyric acid in urine','Elevated concentration of gamma-aminobutyric acid in the urine.'),('HP:0500254','Abnormal urine hexanoylglycine concentration','Abnormal concentration of hexanoylglycine in the urine.'),('HP:0500255','Increased level of hexanoylglycine in urine','Elevated concentration of hexanoylglycine in the urine.'),('HP:0500256','Abnormal urine isobutyrylglycine concentration','Abnormal concentration of isobutyrylglycine in the urine.'),('HP:0500257','Increased urine isobutyrylglycine concentration','Elevated concentration of isobutyrylglycine in the urine.'),('HP:0500258','Abnormal carbon dioxide level in cord blood','Abnormal amount of carbon dioxide in umbilical cord blood'),('HP:0500259','Abnormal oxygen level in cord blood','An abnormal level of blood oxygen in the cord blood.'),('HP:0500260','Triggered by head trauma','Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.'),('HP:0500261','Triggered by anesthetics','Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.'),('HP:0500262','Atrichia','The most dramatic and severe form of hair loss characterized by an absence of hair follicles.'),('HP:0500263','Abnormal helper T cell proportion','Abnormal proportion of helper T cells relative to the total number of T cells.'),('HP:0500264','Increased helper T cell proportion','Increased proportion of helper T cells relative to the total number of T cells.'),('HP:0500265','Increased proportion of CD8-positive, alpha-beta TEMRA T cells','An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.'),('HP:0500266','Decreased proportion of CD8-positive, alpha-beta TEMRA T cells','An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.'),('HP:0500267','Abnormal proportion of CD4-positive helper T cells','An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.'),('HP:0500269','Abnormal proportion of gamma-delta T cells','Abnormal proportion of gamma-delta T cells relative to the total number of T cells.'),('HP:0500270','Increased proportion of gamma-delta T cells','Increased proportion of gamma-delta T cells relative to the total number of T cells.'),('HP:0500271','Decreased proportion of gamma-delta T cells','Decreased proportion of gamma-delta T cells relative to the total number of T cells.'),('HP:0500272','Abnormal proportion of immature gamma-delta T cells','Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.'),('HP:0500273','Increased proportion of immature gamma-delta T cells','Increased proportion of immature gamma-delta T cells relative to the total number of T cells.'),('HP:0500274','Decreased proportion of immature gamma-delta T cells','Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.'),('HP:0550003','Proximal scleroderma','Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.'),('HP:0550004','Verruca plana','Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.'),('HP:0550005','Bilateral basilar pulmonary fibrosis','It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.'),('HP:3000001','obsolete Abnormal heart morphology',''),('HP:3000002','Abnormal inner ear epithelium morphology','Any structural anomaly of an inner ear epithelium.'),('HP:3000003','Abnormal mandibular ramus morphology','An abnormality of a mandibular ramus.'),('HP:3000004','Abnormality of frontalis muscle belly','An abnormality of a frontalis muscle belly.'),('HP:3000005','Abnormality of masseter muscle','An abnormality of a masseter muscle.'),('HP:3000006','Abnormality of medial pterygoid muscle','An abnormality of a medial pterygoid muscle.'),('HP:3000007','Abnormality of mentalis muscle','An abnormality of a mentalis muscle.'),('HP:3000008','Abnormality of mylohyoid muscle','An abnormality of a mylohyoid muscle.'),('HP:3000009','Abnormality of nasalis muscle','An abnormality of a nasalis muscle.'),('HP:3000010','Abnormality of orbicularis oris muscle','An abnormality of an orbicularis oris muscle.'),('HP:3000011','Abnormality of palatoglossus muscle','An abnormality of a palatoglossus muscle.'),('HP:3000012','Abnormality of palatopharyngeus muscle','An abnormality of a palatopharyngeus muscle.'),('HP:3000013','Abnormality of platysma','An abnormality of the platysma muscle.'),('HP:3000014','Abnormality of procerus muscle','An abnormality of a procerus.'),('HP:3000015','Abnormality of risorius muscle','An abnormality of a risorius muscle.'),('HP:3000016','Abnormality of styloglossus muscle','An abnormality of the styloglossus muscle.'),('HP:3000017','Abnormality of temporalis muscle','An abnormality of a temporalis muscle.'),('HP:3000018','Abnormality of zygomaticus major muscle','An abnormality of a zygomaticus major muscle.'),('HP:3000019','Abnormality of buccal mucosa','An abnormality of a buccal mucosa.'),('HP:3000020','Abnormality of zygomaticus minor muscle','An abnormality of a zygomaticus minor muscle.'),('HP:3000021','Abnormality of buccal fat pad','An abnormality of a buccal fat pad.'),('HP:3000022','Abnormality of cartilage of external ear','An abnormality of a cartilage of external ear.'),('HP:3000023','Abnormality of angular artery','An abnormality of the angular artery, the terminal branch of the facial artery.'),('HP:3000024','Abnormal facial artery morphology','Any structural abnormality of a facial artery, one of the branches of the external carotid artery.'),('HP:3000025','Abnormality of ciliary ganglion','An abnormality of a ciliary ganglion.'),('HP:3000026','obsolete Abnormality of common carotid artery plus branches',''),('HP:3000027','Abnormality of buccinator muscle','An abnormality of a buccinator muscle.'),('HP:3000028','Abnormality of depressor anguli oris muscle','An abnormality of a depressor anguli oris muscle.'),('HP:3000029','Abnormality of depressor labii inferioris','An abnormality of a depressor labii inferioris.'),('HP:3000030','Abnormality of bony orbit of skull','An abnormality of an orbit of skull.'),('HP:3000031','Abnormality of anterior ethmoidal artery','An abnormality of an anterior ethmoidal artery.'),('HP:3000032','Abnormality of central retinal artery','An abnormality of a central retinal artery.'),('HP:3000033','Abnormality of nasopharyngeal adenoids','Any abnormality of nasopharyngeal adenoids.'),('HP:3000034','Abnormality of cartilage of nasal septum','An abnormality of a cartilage of nasal septum.'),('HP:3000035','Abnormality of cervical plexus','Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.'),('HP:3000036','Abnormality of head blood vessel','An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.'),('HP:3000037','Abnormality of neck blood vessel','An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.'),('HP:3000038','Abnormal cricoid cartilage morphology','Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.'),('HP:3000039','Abnormality of dorsal nasal artery','An abnormality of a dorsal nasal artery.'),('HP:3000040','Abnormality of ethmoid sinus','An abnormality of an ethmoid sinus.'),('HP:3000041','Abnormality of external carotid artery','An abnormality of an external carotid artery.'),('HP:3000042','Abnormal jugular vein morphology','Any structural abnormality of a jugular vein.'),('HP:3000043','Abnormal facial vein morphology','An abnormality of a facial vein.'),('HP:3000044','Abnormality of frontal process of maxilla','An abnormality of a frontal process of the maxilla bone.'),('HP:3000045','Abnormality of genioglossus muscle','An abnormality of a genioglossus muscle.'),('HP:3000046','Abnormality of geniohyoid muscle','An abnormality of a geniohyoid muscle.'),('HP:3000047','Abnormal glossopharyngeal nerve morphology','Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).'),('HP:3000048','Abnormal great auricular nerve morphology','Any structural anomaly of a great auricular nerve.'),('HP:3000049','Abnormal greater palatine artery morphology','An abnormality of a greater palatine artery.'),('HP:3000050','Abnormality of odontoid tissue','An abnormality of an odontoid tissue.'),('HP:3000051','Abnormal hyoglossus muscle morphology','An abnormality of a hyoglossus muscle.'),('HP:3000052','Abnormality of hyoid bone','An abnormality of a hyoid bone.'),('HP:3000053','Abnormality of hypopharynx','An abnormality of a hypopharynx.'),('HP:3000054','Abnormality of inferior alveolar artery','An abnormality of an inferior alveolar artery.'),('HP:3000055','Abnormality of inferior alveolar nerve','An abnormality of an inferior alveolar nerve.'),('HP:3000056','Abnormality of artery of lower lip','An abnormality of an artery of lower lip.'),('HP:3000057','Abnormality of inferior oblique extraocular muscle','An abnormality of an inferior oblique extraocular muscle.'),('HP:3000058','Abnormality of inferior rectus extraocular muscle','An abnormality of an inferior rectus extraocular muscle.'),('HP:3000059','Abnormal inferior thyroid vein morphology','An abnormality of an inferior thyroid vein.'),('HP:3000060','Abnormality of infraorbital artery','An abnormality of an infraorbital artery.'),('HP:3000061','Abnormality of infra-orbital nerve','A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.'),('HP:3000062','Abnormal internal carotid artery morphology','An abnormality of an internal carotid artery.'),('HP:3000063','Abnormality of internal jugular vein','An abnormality of an internal jugular vein.'),('HP:3000064','Abnormality of intrinsic muscle of tongue','An abnormality of an intrinsic muscle of tongue.'),('HP:3000065','Abnormal lacrimal artery morphology','An abnormality of a lacrimal artery.'),('HP:3000066','Abnormal lacrimal sac morphology','An abnormality of a lacrimal sac.'),('HP:3000067','Abnormal lateral cricoarytenoid muscle morphology','Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.'),('HP:3000068','Abnormality of lateral pterygoid muscle','An abnormality of a lateral pterygoid muscle.'),('HP:3000069','Abnormality of lateral rectus extra-ocular muscle','An abnormality of a lateral rectus extra-ocular muscle.'),('HP:3000070','Abnormality of levator anguli oris','An abnormality of a levator anguli oris.'),('HP:3000071','Abnormality of levator labii superioris','An abnormality of a levator labii superioris.'),('HP:3000072','Abnormal levator palpebrae superioris morphology','An abnormality of a levator palpebrae superioris.'),('HP:3000073','Abnormality of levator veli palatini muscle','An abnormality of a levator veli palatini.'),('HP:3000074','Abnormal lingual artery morphology','Any structural abnormality of a lingual artery.'),('HP:3000075','Abnormal lingual nerve morphology','Any structural anomaly of a lingual nerve.'),('HP:3000076','Abnormality of lingual tonsil','An abnormality of a lingual tonsil.'),('HP:3000077','Abnormal mandible condylar process morphology','An abnormality of a mandible condylar process.'),('HP:3000078','Abnormal mandible coronoid process morphology','An abnormality of a mandible coronoid process.'),('HP:3000079','Abnormality of mandibular symphysis','A structural abnormality of a mandibular symphysis.'); +/*!40000 ALTER TABLE `Symptoms` ENABLE KEYS */; +UNLOCK TABLES; + +-- +-- Table structure for table `TestCases` +-- + +DROP TABLE IF EXISTS `TestCases`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `TestCases` ( + `id` int(11) NOT NULL AUTO_INCREMENT, + `origin` varchar(255) DEFAULT NULL, + `origin_url` varchar(1024) DEFAULT NULL, + `disease_orpha` varchar(255) DEFAULT NULL, + `symptoms_list` varchar(1024) DEFAULT NULL, + PRIMARY KEY (`id`) +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `TestCases` +-- + +LOCK TABLES `TestCases` WRITE; +/*!40000 ALTER TABLE `TestCases` DISABLE KEYS */; +/*!40000 ALTER TABLE `TestCases` ENABLE KEYS */; +UNLOCK TABLES; +/*!40103 SET TIME_ZONE=@OLD_TIME_ZONE */; + +/*!40101 SET SQL_MODE=@OLD_SQL_MODE */; +/*!40014 SET FOREIGN_KEY_CHECKS=@OLD_FOREIGN_KEY_CHECKS */; +/*!40014 SET UNIQUE_CHECKS=@OLD_UNIQUE_CHECKS */; +/*!40101 SET CHARACTER_SET_CLIENT=@OLD_CHARACTER_SET_CLIENT */; +/*!40101 SET CHARACTER_SET_RESULTS=@OLD_CHARACTER_SET_RESULTS */; +/*!40101 SET COLLATION_CONNECTION=@OLD_COLLATION_CONNECTION */; +/*!40111 SET SQL_NOTES=@OLD_SQL_NOTES */; + +-- Dump completed on 2020-07-07 12:12:20 diff --git a/Database/db_backup/backup.sql b/Database/db_backup/backup.sql new file mode 100644 index 0000000..28b38b7 --- /dev/null +++ b/Database/db_backup/backup.sql @@ -0,0 +1,147 @@ +-- MariaDB dump 10.17 Distrib 10.4.13-MariaDB, for osx10.15 (x86_64) +-- +-- Host: localhost Database: RareDiagnostics +-- ------------------------------------------------------ +-- Server version 10.4.13-MariaDB + +/*!40101 SET @OLD_CHARACTER_SET_CLIENT=@@CHARACTER_SET_CLIENT */; +/*!40101 SET @OLD_CHARACTER_SET_RESULTS=@@CHARACTER_SET_RESULTS */; +/*!40101 SET @OLD_COLLATION_CONNECTION=@@COLLATION_CONNECTION */; +/*!40101 SET NAMES utf8mb4 */; +/*!40103 SET @OLD_TIME_ZONE=@@TIME_ZONE */; +/*!40103 SET TIME_ZONE='+00:00' */; +/*!40014 SET @OLD_UNIQUE_CHECKS=@@UNIQUE_CHECKS, UNIQUE_CHECKS=0 */; +/*!40014 SET @OLD_FOREIGN_KEY_CHECKS=@@FOREIGN_KEY_CHECKS, FOREIGN_KEY_CHECKS=0 */; +/*!40101 SET @OLD_SQL_MODE=@@SQL_MODE, SQL_MODE='NO_AUTO_VALUE_ON_ZERO' */; +/*!40111 SET @OLD_SQL_NOTES=@@SQL_NOTES, SQL_NOTES=0 */; + +-- +-- Current Database: `RareDiagnostics` +-- + +CREATE DATABASE /*!32312 IF NOT EXISTS*/ `RareDiagnostics` /*!40100 DEFAULT CHARACTER SET utf8mb4 */; + +USE `RareDiagnostics`; + +-- +-- Table structure for table `Correlation` +-- + +DROP TABLE IF EXISTS `Correlation`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `Correlation` ( + `disease_orpha` varchar(10) DEFAULT NULL, + `symptom_id` varchar(255) DEFAULT NULL, + `frequency` float DEFAULT NULL, + KEY `disease_orpha` (`disease_orpha`), + KEY `symptom_id` (`symptom_id`), + CONSTRAINT `correlation_ibfk_1` FOREIGN KEY (`disease_orpha`) REFERENCES `Disease` (`orpha_number`) ON DELETE CASCADE, + CONSTRAINT `correlation_ibfk_2` FOREIGN KEY (`symptom_id`) REFERENCES `Symptom` (`id`) ON DELETE CASCADE +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `Correlation` +-- + +LOCK TABLES `Correlation` WRITE; +/*!40000 ALTER TABLE `Correlation` DISABLE KEYS */; +INSERT INTO `Correlation` VALUES 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+/*!40000 ALTER TABLE `Correlation` ENABLE KEYS */; +UNLOCK TABLES; + +-- +-- Table structure for table `Disease` +-- + +DROP TABLE IF EXISTS `Disease`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `Disease` ( + `orpha_number` varchar(10) NOT NULL, + `disease_name` varchar(255) DEFAULT NULL, + `type` varchar(100) DEFAULT NULL, + `definition` text DEFAULT NULL, + PRIMARY KEY (`orpha_number`) +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `Disease` +-- + +LOCK TABLES `Disease` WRITE; +/*!40000 ALTER TABLE `Disease` DISABLE KEYS */; +INSERT INTO `Disease` VALUES ('10','48,XXYY syndrome','Malformation syndrome','A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.'),('100','Ataxia-telangiectasia','Disease','A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.'),('1000','Ocular albinism with late-onset sensorineural deafness','Disease','Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.'),('100000','Reticular perineurioma','Clinical subtype','no definition available'),('100001','Sclerosing perineurioma','Clinical subtype','no definition available'),('100002','Extraneural perineurioma','Disease','Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.'),('100003','Intraneural perineurioma','Disease','Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.'),('100006','ABeta amyloidosis, Dutch type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.'),('100008','ACys amyloidosis','Clinical subtype','A form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.'),('100011','Lissencephaly with cerebellar hypoplasia type A','Malformation syndrome','A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.'),('100012','Lissencephaly with cerebellar hypoplasia type B','Malformation syndrome','A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.'),('100013','Lissencephaly with cerebellar hypoplasia type C','Malformation syndrome','A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.'),('100014','Lissencephaly with cerebellar hypoplasia type D','Malformation syndrome','A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.'),('100015','Lissencephaly with cerebellar hypoplasia type E','Malformation syndrome','A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.'),('100016','Lissencephaly with cerebellar hypoplasia type F','Malformation syndrome','A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.'),('100019','Refractory anemia with excess blasts type 1','Clinical subtype','A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.'),('100020','Refractory anemia with excess blasts type 2','Clinical subtype','A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.'),('100021','Primary plasmacytoma of the bone','Clinical subtype','no definition available'),('100022','Extramedullary soft tissue plasmacytoma','Clinical subtype','no definition available'),('100024','Mu-heavy chain disease','Clinical subtype','A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).'),('100025','Alpha-heavy chain disease','Clinical subtype','A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.'),('100026','Gamma-heavy chain disease','Clinical subtype','A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.'),('100031','Hypoplastic amelogenesis imperfecta','Clinical subtype','no definition available'),('100032','Hypocalcified amelogenesis imperfecta','Clinical subtype','no definition available'),('100033','Hypomaturation amelogenesis imperfecta','Clinical subtype','no definition available'),('100034','Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism','Clinical subtype','no definition available'),('100035','Solitary necrotic nodule of the liver','Disease','A rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.'),('100039','Familial pseudohyperkalemia type 1','Clinical subtype','no definition available'),('100040','OBSOLETE: Familial pseudohyperkalemia type 2','Clinical subtype','no definition available'),('100041','OBSOLETE: Familial pseudohyperkalemia, Cardiff type','Clinical subtype','no definition available'),('100043','Autosomal dominant intermediate Charcot-Marie-Tooth disease type A','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.'),('100044','Autosomal dominant intermediate Charcot-Marie-Tooth disease type B','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.'),('100045','Autosomal dominant intermediate Charcot-Marie-Tooth disease type C','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.'),('100046','Autosomal dominant intermediate Charcot-Marie-Tooth disease type D','Disease','A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.'),('100047','Esophageal duplication cyst','Morphological anomaly','Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.'),('100048','Tubular duplication of the esophagus','Morphological anomaly','A rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.'),('100049','Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies','Category','A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.'),('100050','Hereditary angioedema type 1','Etiological subtype','A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100051','Hereditary angioedema type 2','Etiological subtype','Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100054','F12-related hereditary angioedema with normal C1Inh','Etiological subtype','Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100055','Acquired angioedema type 2','Clinical subtype','A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100056','Acquired angioedema type 1','Clinical subtype','A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100057','Renin-angiotensin-aldosterone system-blocker-induced angioedema','Disease','Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.'),('100067','Waterhouse-Friderichsen syndrome','Clinical subtype','no definition available'),('100069','Semantic dementia','Disease','Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.'),('100070','Progressive non-fluent aphasia','Disease','Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.'),('100071','Mosaic trisomy 3','Malformation syndrome','Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.'),('100072','OBSOLETE: True vascular thoracic outlet syndrome','Disease','no definition available'),('100073','Neurogenic thoracic outlet syndrome','Clinical subtype','Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.'),('100075','Neuroendocrine tumor of stomach','Disease','Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.'),('100076','Duodenal neuroendocrine tumor','Category','no definition available'),('100077','Jejunal neuroendocrine tumor','Category','Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.'),('100078','Ileal neuroendocrine tumor','Disease','Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.'),('100079','Neuroendocrine neoplasm of appendix','Disease','Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).'),('100080','Neuroendocrine tumor of the colon','Disease','A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).'),('100081','Neuroendocrine tumor of the rectum','Disease','Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.'),('100082','Neuroendocrine tumor of anal canal','Disease','Neuroendocrine tumor of the anal canal is an epithelial tumor of anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).'),('100083','Laryngeal neuroendocrine tumor','Disease','no definition available'),('100084','Middle ear neuroendocrine tumor','Disease','Middle ear neuroendocrine tumor is a rare, otorhinolaryngologic tumor characterized by a mixed glandular and non-glandular histological features and positive immunostaining for pancytokeratin, vimentin, synaptophysin and islet-1 protein. Common signs and symptoms are hearing loss, mass, pain, discharge, equilibrium disturbances, tinnitus and nerve paralysis.'),('100085','Primary hepatic neuroendocrine carcinoma','Disease','Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.'),('100086','Gallbladder neuroendocrine tumor','Disease','A rare, very aggressive neuroendocrine neoplasm characterized by the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites, and anepithymia. Paraneoplastic syndromes, such as Cushing syndrome, hypercalcemia, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trélat sign, may be associated.'),('100087','Thyroid tumor','Category','no definition available'),('100088','Thyroid carcinoma','Category','no definition available'),('100090','Rare parathyroid tumor','Category','no definition available'),('100091','Adrenal/paraganglial tumor','Category','no definition available'),('100092','Gastroenteropancreatic neuroendocrine neoplasm','Category','no definition available'),('100093','Carcinoid syndrome','Clinical syndrome','A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.'),('100094','Multiple polyglandular tumor','Category','no definition available'),('1001','2q37 microdeletion syndrome','Malformation syndrome','A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.'),('100100','Thymic tumor','Category','no definition available'),('100101','Neuroendocrine tumor with other location','Category','no definition available'),('1002','NON RARE IN EUROPE: Cluster headache','Disease','no definition available'),('1003','Scalp defects-postaxial polydactyly syndrome','Malformation syndrome','Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.'),('1005','Alopecia-contractures-dwarfism-intellectual disability syndrome','Malformation syndrome','A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.'),('1006','Alopecia antibody deficiency','Disease','A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.'),('100642','NON RARE IN EUROPE: Gonorrhea','Disease','no definition available'),('1008','Alopecia-epilepsy-pyorrhea-intellectual disability syndrome','Disease','A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.'),('100924','Porphyria due to ALA dehydratase deficiency','Disease','Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.'),('100932','OBSOLETE: Nuclear oculomotor paralysis','Category','no definition available'),('100973','FRAXE intellectual disability','Disease','FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.'),('100974','FRAXF syndrome','Disease','FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.'),('100976','Bathing suit ichthyosis','Disease','Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.'),('100978','Cloverleaf skull-asphyxiating thoracic dysplasia syndrome','Malformation syndrome','A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.'),('100979','Autosomal dominant complex spastic paraplegia','Clinical group','no definition available'),('100980','Autosomal dominant pure spastic paraplegia','Clinical group','no definition available'),('100981','Autosomal recessive complex spastic paraplegia','Clinical group','no definition available'),('100982','Autosomal recessive pure spastic paraplegia','Clinical group','no definition available'),('100984','Autosomal dominant spastic paraplegia type 3','Disease','A rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.'),('100985','Autosomal dominant spastic paraplegia type 4','Disease','A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.'),('100986','Autosomal recessive spastic paraplegia type 5A','Disease','Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.'),('100988','Autosomal dominant spastic paraplegia type 6','Disease','A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.'),('100989','Autosomal dominant spastic paraplegia type 8','Disease','A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated.'),('100990','OBSOLETE: Autosomal dominant spastic paraplegia type 9','Disease','no definition available'),('100991','Autosomal dominant spastic paraplegia type 10','Disease','A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.'),('100993','Autosomal dominant spastic paraplegia type 12','Disease','A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.'),('100994','Autosomal dominant spastic paraplegia type 13','Disease','A rare hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs.'),('100995','Autosomal recessive spastic paraplegia type 14','Disease','Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.'),('100996','Autosomal recessive spastic paraplegia type 15','Disease','Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.'),('100997','X-linked spastic paraplegia type 16','Disease','A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.'),('100998','Autosomal dominant spastic paraplegia type 17','Disease','A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.'),('100999','Autosomal dominant spastic paraplegia type 19','Disease','A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.'),('101','Dentatorubral pallidoluysian atrophy','Disease','A rare subtype of autosomal dominant cerebellar ataxia type I characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.'),('1010','Autosomal dominant palmoplantar keratoderma and congenital alopecia','Disease','A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.'),('101000','Autosomal recessive spastic paraplegia type 20','Disease','Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.'),('101001','Autosomal recessive spastic paraplegia type 21','Disease','Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.'),('101003','Autosomal recessive spastic paraplegia type 23','Disease','Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ``sharp`` features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.'),('101004','Autosomal recessive spastic paraplegia type 24','Disease','A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.'),('101005','Autosomal recessive spastic paraplegia type 25','Disease','Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.'),('101006','Autosomal recessive spastic paraplegia type 26','Disease','Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.'),('101007','Autosomal recessive spastic paraplegia type 27','Disease','Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.'),('101008','Autosomal recessive spastic paraplegia type 28','Disease','Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.'),('101009','Autosomal dominant spastic paraplegia type 29','Disease','A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.'),('101010','Autosomal spastic paraplegia type 30','Disease','Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.'),('101011','Autosomal dominant spastic paraplegia type 31','Disease','A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.'),('101016','Romano-Ward syndrome','Disease','Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).'),('101022','Mediterranean macrothrombocytopenia','Disease','no definition available'),('101023','Cleft hard palate','Morphological anomaly','no definition available'),('101028','Transaldolase deficiency','Disease','Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.'),('101029','Sub-cortical nodular heterotopia','Clinical subtype','no definition available'),('101030','Subependymal nodular heterotopia','Clinical subtype','no definition available'),('101033','OBSOLETE: Peters anomaly-cataract syndrome','Clinical subtype','no definition available'),('101036','OBSOLETE: Zlotogura-Martinez syndrome','Malformation syndrome','no definition available'),('101039','Female restricted epilepsy with intellectual disability','Disease','Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.'),('101041','Familial hypofibrinogenemia','Clinical subtype','Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.'),('101042','OBSOLETE: Taussig-Bing syndrome','Clinical subtype','no definition available'),('101043','Congenital aortic valve dysplasia','Clinical subtype','no definition available'),('101046','Autosomal dominant epilepsy with auditory features','Disease','A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.'),('101049','Familial hypocalciuric hypercalcemia type 2','Etiological subtype','no definition available'),('101050','Familial hypocalciuric hypercalcemia type 3','Etiological subtype','no definition available'),('101052','OBSOLETE: Microlissencephaly type B','Disease','no definition available'),('101063','Situs inversus totalis','Morphological anomaly','A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.'),('101068','Congenital stromal corneal dystrophy','Disease','Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.'),('101070','Bilateral frontoparietal polymicrogyria','Clinical subtype','Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.'),('101071','Unilateral hemispheric polymicrogyria','Clinical subtype','no definition available'),('101075','X-linked Charcot-Marie-Tooth disease type 1','Disease','X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.'),('101076','X-linked Charcot-Marie-Tooth disease type 2','Disease','X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.'),('101077','X-linked Charcot-Marie-Tooth disease type 3','Disease','X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.'),('101078','X-linked Charcot-Marie-Tooth disease type 4','Disease','X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.'),('101081','Charcot-Marie-Tooth disease type 1A','Disease','no definition available'),('101082','Charcot-Marie-Tooth disease type 1B','Disease','Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.'),('101083','Charcot-Marie-Tooth disease type 1C','Disease','A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.'),('101084','Charcot-Marie-Tooth disease type 1D','Disease','Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.'),('101085','Charcot-Marie-Tooth disease type 1F','Disease','Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ``demyelinating`` form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).'),('101088','X-linked hyper-IgM syndrome','Clinical subtype','no definition available'),('101089','Hyper-IgM syndrome type 2','Clinical subtype','no definition available'),('101090','Hyper-IgM syndrome type 3','Clinical subtype','no definition available'),('101091','Hyper-IgM syndrome type 4','Clinical subtype','no definition available'),('101092','Hyper-IgM syndrome type 5','Clinical subtype','no definition available'),('101096','Aregenerative anemia','Disease','no definition available'),('101097','Autosomal recessive Charcot-Marie-Tooth disease with hoarseness','Disease','A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.'),('1011','Alopecia-hypogonadism-extrapyramidal syndrome','Disease','no definition available'),('101101','Charcot-Marie-Tooth disease type 2B2','Disease','Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.'),('101102','Charcot-Marie-Tooth disease type 2H','Disease','Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.'),('101104','Marin-Amat syndrome','Clinical subtype','no definition available'),('101106','OBSOLETE: Non-secreting chemodectoma','Clinical subtype','no definition available'),('101107','Spinocerebellar ataxia type 22','Disease','no definition available'),('101108','Spinocerebellar ataxia type 23','Disease','Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.'),('101109','Spinocerebellar ataxia type 28','Disease','Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.'),('101110','Spinocerebellar ataxia type 20','Disease','Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.'),('101111','Spinocerebellar ataxia type 25','Disease','Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.'),('101112','Spinocerebellar ataxia type 26','Disease','A very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.'),('101150','Autosomal recessive dopa-responsive dystonia','Disease','A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.'),('101151','Dystonia 14','Disease','no definition available'),('101206','Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome','Malformation syndrome','Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.'),('101330','Porphyria cutanea tarda','Disease','Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.'),('101334','African tick typhus','Disease','A rare bacterial infectious disease caused by the tick-borne bacterium Rickettsia africae, characterized by acute onset of fever accompanied by myalgia, localized lymphadenitis, and a papulovesicular rash. In most cases at least one, sometimes multiple, inoculation eschars are observed. Clustering of cases is frequent.'),('101335','OBSOLETE: Indian tick typhus','Etiological subtype','no definition available'),('101336','OBSOLETE: Kenya tick typhus','Etiological subtype','no definition available'),('101337','OBSOLETE: Marseilles fever','Etiological subtype','no definition available'),('101338','OBSOLETE: Mediterranean spotted fever','Etiological subtype','no definition available'),('101351','Familial isolated congenital asplenia','Morphological anomaly','Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.'),('101356','OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome','Disease','no definition available'),('1014','Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome','Disease','This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.'),('101433','Rare urogenital disease','Category','no definition available'),('101435','Rare genetic eye disease','Category','no definition available'),('101685','Rare non-syndromic intellectual disability','Disease','Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.'),('1018','X-linked Alport syndrome-diffuse leiomyomatosis','Clinical subtype','A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.'),('1019','Epstein syndrome','Clinical subtype','no definition available'),('101932','Anomaly of the mitral subvalvular apparatus','Morphological anomaly','no definition available'),('101934','Genetic cardiac rhythm disease','Category','no definition available'),('101936','Rare gastroesophageal disease','Category','no definition available'),('101937','Rare pancreatic disease','Category','no definition available'),('101938','Rare vascular liver disease','Category','no definition available'),('101939','Rare parenchymal liver disease','Category','no definition available'),('101940','Rare metabolic liver disease','Category','no definition available'),('101941','Rare biliary tract disease','Category','no definition available'),('101943','Rare hepatic and biliary tract tumor','Category','no definition available'),('101944','Rare pulmonary disease','Category','no definition available'),('101945','Rare bronchopulmonary tumor','Category','no definition available'),('101949','OBSOLETE: Rare acquired eye disease','Category','no definition available'),('101950','Rare eye tumor','Category','no definition available'),('101952','Rare diabetes mellitus','Category','no definition available'),('101953','Rare dyslipidemia','Category','no definition available'),('101954','Rare adrenal disease','Category','no definition available'),('101955','Rare thyroid disease','Category','no definition available'),('101956','Polyendocrinopathy','Category','no definition available'),('101957','Pituitary deficiency','Category','no definition available'),('101958','Primary adrenal insufficiency','Category','no definition available'),('101959','Chronic primary adrenal insufficiency','Category','Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.'),('101960','Genetic chronic primary adrenal insufficiency','Category','no definition available'),('101963','Acquired chronic primary adrenal insufficiency','Category','no definition available'),('101972','Combined T and B cell immunodeficiency','Clinical group','no definition available'),('101977','Immunodeficiency predominantly affecting antibody production','Category','no definition available'),('101978','OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells','Clinical group','no definition available'),('101980','OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells','Clinical group','no definition available'),('101982','OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells','Clinical group','no definition available'),('101985','Quantitative and/or qualitative congenital phagocyte defect','Category','no definition available'),('101987','Constitutional neutropenia','Category','no definition available'),('101988','Primary immunodeficiency due to a defect in innate immunity','Category','no definition available'),('101992','Immunodeficiency due to a complement cascade protein anomaly','Category','no definition available'),('101995','Periodic fever syndrome','Category','no definition available'),('101997','Primary immunodeficiency','Category','no definition available'),('101998','Rare epilepsy','Category','no definition available'),('102','Multiple system atrophy','Disease','Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.'),('1020','Early-onset autosomal dominant Alzheimer disease','Disease','Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.'),('102000','Medullar disease','Category','no definition available'),('102002','Rare ataxia','Category','no definition available'),('102003','Rare movement disorder','Category','no definition available'),('102005','Brain inflammatory disease','Category','no definition available'),('102006','Neurovascular malformation','Category','no definition available'),('102009','Classic lissencephaly','Clinical group','no definition available'),('102010','Other syndrome with lissencephaly as a major feature','Category','no definition available'),('102011','Lissencephaly type 3','Clinical group','no definition available'),('102012','Pure hereditary spastic paraplegia','Clinical group','no definition available'),('102013','Complex hereditary spastic paraplegia','Clinical group','no definition available'),('102014','Autosomal dominant limb-girdle muscular dystrophy','Category','no definition available'),('102015','Autosomal recessive limb-girdle muscular dystrophy','Category','no definition available'),('102020','Autosomal monosomy','Category','no definition available'),('102021','Rickettsial disease','Category','no definition available'),('102022','Spotted fever rickettsiosis','Category','no definition available'),('102023','Typhus-group rickettsiosis','Category','no definition available'),('102024','Human herpesvirus 8-related disorder','Category','no definition available'),('102025','OBSOLETE: Nuclear cell envelopathy','Category','no definition available'),('102069','OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis','Disease','no definition available'),('1021','Amaurosis-hypertrichosis syndrome','Disease','A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989.'),('102237','Unexplained periodic fever syndrome','Category','no definition available'),('102283','Multiple congenital anomalies/dysmorphic syndrome-intellectual disability','Category','no definition available'),('102284','Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome','Category','no definition available'),('102285','Multiple congenital anomalies/dysmorphic syndrome without intellectual disability','Category','no definition available'),('1023','Congenital generalized hypertrichosis, Ambras type','Clinical subtype','Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.'),('102369','Rare syndromic intellectual disability','Category','no definition available'),('102373','OBSOLETE: Primary glomerular disease','Category','no definition available'),('102379','Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent','Disease','A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).'),('102381','Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor','Disease','A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.'),('1027','Autosomal recessive amelia','Malformation syndrome','A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.'),('102724','Acute myeloid leukemia with t(8;21)(q22;q22) translocation','Disease','A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.'),('1028','Amelo-onycho-hypohidrotic syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975.'),('103','OBSOLETE: Genetic optic atrophy','Clinical group','no definition available'),('1031','Enamel-renal syndrome','Malformation syndrome','A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.'),('1032','OBSOLETE: Hyperdibasic aminoaciduria type 1','Disease','no definition available'),('1034','OBSOLETE: Amniotic bands','Clinical group','no definition available'),('1035','Beta-mercaptolactate cysteine disulfiduria','Biological anomaly','An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.'),('1037','Arthrogryposis multiplex congenita','Clinical group','A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.'),('103907','Chronic diarrhea due to glucoamylase deficiency','Disease','This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.'),('103908','Congenital sodium diarrhea','Disease','Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.'),('103909','Trehalase deficiency','Disease','A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.'),('103910','Congenital enterocyte heparan sulfate deficiency','Disease','A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.'),('103912','OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome','Disease','no definition available'),('103915','OBSOLETE: Immunoproliferative small intestinal disease','Disease','no definition available'),('103916','OBSOLETE: Autoimmune enteropathy type 2','Disease','no definition available'),('103917','OBSOLETE: Autoimmune enteropathy type 3','Disease','no definition available'),('103918','Tropical pancreatitis','Disease','Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.'),('103919','Autoimmune pancreatitis','Disease','A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.'),('103920','Undetermined colitis','Disease','Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.'),('104','Leber hereditary optic neuropathy','Disease','Leber`s hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.'),('1040','Metaphyseal anadysplasia','Disease','Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.'),('104003','Congenital intestinal transport defect','Category','no definition available'),('104004','Intestinal disease due to vitamin absorption anomaly','Category','no definition available'),('104005','Intestinal disease due to fat malabsorption','Category','no definition available'),('104006','Congenital intestinal disease due to an enzymatic defect','Category','no definition available'),('104007','Congenital enteropathy involving intestinal mucosa development','Category','no definition available'),('104008','Short bowel syndrome','Clinical group','Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.'),('104009','Rare disease involving intestinal motility','Category','no definition available'),('104010','Intestinal polyposis syndrome','Clinical group','no definition available'),('104011','Rare tumor of intestine','Category','no definition available'),('104012','Rare inflammatory bowel disease','Category','no definition available'),('104013','Metabolic disease with intestinal involvement','Category','no definition available'),('104075','Adenocarcinoma of the small instestine','Disease','Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.'),('104076','Leiomyosarcoma of small intestine','Disease','Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum, and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases.'),('104077','Myopathic intestinal pseudoobstruction','Etiological subtype','no definition available'),('104078','Unclassified intestinal pseudoobstruction','Etiological subtype','no definition available'),('1041','Hydrops fetalis','Malformation syndrome','Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).'),('1044','OBSOLETE: Anemia due to adenosine triphosphatase deficiency','Disease','no definition available'),('1046','Lethal hemolytic anemia-genital anomalies syndrome','Malformation syndrome','A rare syndrome characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.'),('1047','Sideroblastic anemia','Category','Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls` staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).'),('1048','Isolated anencephaly/exencephaly','Morphological anomaly','A neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.'),('105','Atresia of urethra','Morphological anomaly','Aa rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.'),('1051','Ramos-Arroyo syndrome','Malformation syndrome','Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.'),('1052','Mosaic variegated aneuploidy syndrome','Malformation syndrome','Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.'),('1053','Vein of Galen aneurysmal malformation','Morphological anomaly','A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.'),('1054','Aneurysm of sinus of Valsalva','Morphological anomaly','Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.'),('1055','Congenital left ventricular aneurysm','Malformation syndrome','no definition available'),('1057','OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome','Malformation syndrome','no definition available'),('1059','Blue rubber bleb nevus','Malformation syndrome','A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.'),('106','NON RARE IN EUROPE: Autism','Malformation syndrome','no definition available'),('1060','Systemic cystic angiomatosis-Seip syndrome','Disease','no definition available'),('1062','Hereditary neurocutaneous malformation','Disease','A disorder characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.'),('1063','Tufted angioma','Disease','A very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.'),('1064','Aniridia-renal agenesis-psychomotor retardation syndrome','Malformation syndrome','An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.'),('1065','Aniridia-cerebellar ataxia-intellectual disability syndrome','Malformation syndrome','A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.'),('1067','Aniridia-ptosis-intellectual disability-familial obesity syndrome','Malformation syndrome','An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.'),('1068','Aniridia-intellectual disability syndrome','Malformation syndrome','An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.'),('1069','Aniridia-absent patella syndrome','Malformation syndrome','A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.'),('107','BOR syndrome','Malformation syndrome','Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).'),('1070','Anisakiasis','Disease','A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).'),('1071','Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome','Malformation syndrome','An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.'),('1072','Ankyloblepharon filiforme adnatum-cleft palate syndrome','Clinical subtype','A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.'),('1074','Ankyloblepharon filiforme adnatum-imperforate anus syndrome','Clinical subtype','An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.'),('1077','Dental ankylosis','Malformation syndrome','A rare odontologic disorder characterized by the loss of the periodontal ligament space and orthodontic mobility.'),('1078','Thumb stiffness-brachydactyly-intellectual disability syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.'),('108','Babesiosis','Disease','Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.'),('1081','Coronary artery congenital malformation','Category','no definition available'),('1083','Microlissencephaly','Morphological anomaly','Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.'),('1084','Isolated lissencephaly type 1 without known genetic defects','Disease','Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.'),('1088','OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome','Malformation syndrome','no definition available'),('108959','Non-syndromic esophageal malformation','Category','no definition available'),('108961','Syndromic esophageal malformation','Category','no definition available'),('108963','Non-syndromic gastroduodenal malformation','Category','no definition available'),('108965','Syndromic gastroduodenal malformation','Category','no definition available'),('108967','Non-syndromic intestinal malformation','Category','no definition available'),('108969','Syndromic intestinal malformation','Category','no definition available'),('108971','Non-syndromic visceral malformation','Category','no definition available'),('108973','Syndromic visceral malformation','Category','no definition available'),('108977','Non-syndromic diaphragmatic or abdominal wall malformation','Category','no definition available'),('108979','Syndromic diaphragmatic or abdominal wall malformation','Category','no definition available'),('108985','OBSOLETE: Non-syndromic developmental defect of the eye','Category','no definition available'),('108987','OBSOLETE: Syndromic developmental defect of the eye','Category','no definition available'),('108989','Non-syndromic central nervous system malformation','Category','no definition available'),('108991','Syndrome with a central nervous system malformation as a major feature','Category','no definition available'),('108993','Non-syndromic respiratory or mediastinal malformation','Category','no definition available'),('108995','Syndromic respiratory or mediastinal malformation','Category','no definition available'),('108997','Rare anemia','Category','no definition available'),('108999','Rare disorder due to toxic effects','Category','no definition available'),('109','Bannayan-Riley-Ruvalcaba syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.'),('109007','Arthrogryposis syndrome','Category','no definition available'),('109009','Syndrome with limb malformations as a major feature','Category','no definition available'),('109011','Non-syndromic limb malformation','Category','no definition available'),('1092','Renal-genital-middle ear anomalies','Malformation syndrome','no definition available'),('1094','Anonychia-microcephaly syndrome','Malformation syndrome','A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.'),('11','Pentasomy X','Malformation syndrome','Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).'),('110','Bardet-Biedl syndrome','Disease','Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.'),('1101','Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome','Malformation syndrome','Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.'),('1102','Anophthalmia-hypothalamo-pituitary insufficiency syndrome','Malformation syndrome','no definition available'),('1104','Anophthalmia plus syndrome','Malformation syndrome','A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.'),('1106','Microphthalmia with limb anomalies','Malformation syndrome','A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.'),('111','Barth syndrome','Disease','Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.'),('1110','Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome','Malformation syndrome','A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.'),('1112','Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome','Malformation syndrome','An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.'),('1113','Aphalangy-syndactyly-microcephaly syndrome','Malformation syndrome','An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.'),('1114','Aplasia cutis congenita','Malformation syndrome','A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.'),('1115','OBSOLETE: Recessive aplasia cutis congenita of limbs','Disease','no definition available'),('1116','Aplasia cutis congenita-intestinal lymphangiectasia syndrome','Disease','An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.'),('1117','Aplasia cutis-myopia syndrome','Disease','A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.'),('1118','Fibular aplasia-ectrodactyly syndrome','Malformation syndrome','A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.'),('112','Bartter syndrome','Disease','Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle`s loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.'),('1120','Lung agenesis-heart defect-thumb anomalies syndrome','Malformation syndrome','Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.'),('1121','Radial deficiency-tibial hypoplasia syndrome','Malformation syndrome','Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.'),('1122','Ulnar hypoplasia-split foot syndrome','Malformation syndrome','Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.'),('1123','Caudal appendage-deafness syndrome','Malformation syndrome','Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.'),('1125','Ocular motor apraxia, Cogan type','Disease','Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.'),('1126','Aprosencephaly cerebellar dysgenesis','Malformation syndrome','A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.'),('1129','Arachnodactyly-abnormal ossification-intellectual disability syndrome','Malformation syndrome','A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.'),('113','Bazex-Dupré-Christol syndrome','Disease','Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.'),('1130','Arachnodactyly-intellectual disability-dysmorphism syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.'),('1131','X-linked mandibulofacial dysostosis','Malformation syndrome','X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.'),('1132','Aortic arch defects','Category','no definition available'),('1133','AREDYLD syndrome','Malformation syndrome','A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.'),('1134','Isolated arrhinia','Malformation syndrome','An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.'),('1135','Arrhinia-choanal atresia-microphthalmia syndrome','Malformation syndrome','A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.'),('1136','Arnold-Chiari malformation type II','Morphological anomaly','A rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.'),('1137','OBSOLETE: Pulmonary aortic stenosis obstructive uropathy','Disease','no definition available'),('1138','Abnormal origin of the pulmonary artery','Clinical group','no definition available'),('1139','OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome','Disease','no definition available'),('114','Auriculoosteodysplasia','Malformation syndrome','A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.'),('1143','Neurogenic arthrogryposis multiplex congenita','Disease','Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.'),('1144','Arthrogryposis-like hand anomaly-sensorineural deafness syndrome','Malformation syndrome','A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.'),('1145','Infantile-onset X-linked spinal muscular atrophy','Disease','X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.'),('1146','Digitotalar dysmorphism','Malformation syndrome','Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).'),('1147','Sheldon-Hall syndrome','Malformation syndrome','Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.'),('1149','Kuskokwim syndrome','Malformation syndrome','A very rare congenital contracture disorder, reported exclusively in Yup`ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.'),('115','Congenital contractural arachnodactyly','Malformation syndrome','Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.'),('1150','Arthrogryposis multiplex congenita-whistling face syndrome','Malformation syndrome','An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.'),('1153','OBSOLETE: Transient neonatal arthrogryposis','Disease','no definition available'),('1154','Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome','Malformation syndrome','Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.'),('1155','OBSOLETE: Arthrogryposis due to muscular dystrophy','Disease','no definition available'),('1159','Progressive pseudorheumatoid arthropathy of childhood','Disease','Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.'),('116','Beckwith-Wiedemann syndrome','Malformation syndrome','Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.'),('1160','Chylous ascites','Disease','Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.'),('1162','NON RARE IN EUROPE: Asperger syndrome','Disease','no definition available'),('1163','Aspergillosis','Disease','A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.'),('1164','Allergic bronchopulmonary aspergillosis','Disease','A rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.'),('1166','Congenital unilateral hypoplasia of depressor anguli oris','Morphological anomaly','Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).'),('1167','OBSOLETE: Facial asymmetry-temporal seizures syndrome','Malformation syndrome','no definition available'),('1168','Ataxia-oculomotor apraxia type 1','Disease','A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.'),('117','Behçet disease','Disease','A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.'),('1170','Autosomal recessive cerebelloparenchymal disorder type 3','Disease','The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.'),('1171','Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome','Disease','Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.'),('1172','Autosomal recessive cerebellar ataxia','Category','A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.'),('1173','Cerebellar ataxia-hypogonadism syndrome','Disease','Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).'),('1174','Cerebellar ataxia-ectodermal dysplasia syndrome','Malformation syndrome','Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.'),('1175','X-linked progressive cerebellar ataxia','Disease','A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.'),('117569','Rare intestinal disease','Category','no definition available'),('117573','Syndromic anorectal malformation','Category','no definition available'),('1177','Early-onset cerebellar ataxia with retained tendon reflexes','Disease','Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.'),('1178','Ataxia-tapetoretinal degeneration syndrome','Disease','A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.'),('1179','Benign paroxysmal tonic upgaze of childhood with ataxia','Disease','Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.'),('118','Beta-mannosidosis','Disease','Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.'),('1180','Ataxia-hypogonadism-choroidal dystrophy syndrome','Disease','A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).'),('1182','Spastic ataxia with congenital miosis','Disease','Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.'),('1183','Opsoclonus-myoclonus syndrome','Disease','Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.'),('1184','Ataxia-photosensitivity-short stature syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.'),('1185','Spinocerebellar ataxia-dysmorphism syndrome','Disease','A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.'),('1186','Infantile-onset spinocerebellar ataxia','Disease','Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.'),('1187','Lethal ataxia with deafness and optic atrophy','Disease','Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.'),('1188','Ataxia-deafness-intellectual disability syndrome','Malformation syndrome','This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.'),('119','Beta-sarcoglycan-related limb-girdle muscular dystrophy R4','Disease','A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.'),('1190','Atelosteogenesis type I','Malformation syndrome','A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.'),('1192','Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome','Malformation syndrome','A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.'),('1193','Atkin-Flaitz syndrome','Malformation syndrome','A rare syndrome characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.'),('1194','TMEM70-related mitochondrial encephalo-cardio-myopathy','Disease','Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.'),('1195','Congenital atransferrinemia','Disease','Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.'),('1198','Colonic atresia','Morphological anomaly','Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.'),('1199','Esophageal atresia','Morphological anomaly','Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.'),('120','NON RARE IN EUROPE: Pernicious anemia','Disease','no definition available'),('1200','Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome','Malformation syndrome','Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).'),('1201','Atresia of small intestine','Morphological anomaly','A special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an `apple peel` and may have less than half of the normal length of the small bowel and a physiologically short bowel. This disorder is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. It may be a manifestation of cystic fibrosis and the most important cause of mortality is short bowel syndrome, encountered in 65% of cases.'),('1202','Larynx atresia','Malformation syndrome','no definition available'),('1203','Duodenal atresia','Morphological anomaly','Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.'),('1205','Mitral atresia','Morphological anomaly','no definition available'),('1207','Pulmonary atresia with ventricular septal defect','Morphological anomaly','Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).'),('1208','Pulmonary atresia-intact ventricular septum syndrome','Morphological anomaly','Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.'),('1209','Tricuspid atresia','Morphological anomaly','Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).'),('1211','OBSOLETE: Atrichia-mental and growth delay syndrome','Disease','no definition available'),('1214','Progressive hemifacial atrophy','Disease','Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.'),('1215','Autosomal dominant optic atrophy plus syndrome','Disease','A rare variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.'),('1216','Autosomal dominant congenital benign spinal muscular atrophy','Disease','A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.'),('1217','Spinal atrophy-ophthalmoplegia-pyramidal syndrome','Disease','Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.'),('1219','Aurocephalosyndactyly','Malformation syndrome','no definition available'),('122','Birt-Hogg-Dubé syndrome','Malformation syndrome','Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.'),('1221','Cheilitis glandularis','Disease','Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.'),('1223','Balantidiasis','Disease','Balantidiasis is an infectious disease, rare in western countries. It is caused by Balantidium coli, a single celled parasite (ciliate protozoan) that is usually associated with intestinal infection in areas associated with pig rearing. It infects humans occasionally, mostly immunocompromised patients. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal inflammation, for example, amoebic dysentery. On very rare occasions this bacterium may invade extra-intestinal organs, mostly the lungs. Metronidazole is the treatment of choice.'),('1225','Baller-Gerold syndrome','Malformation syndrome','Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).'),('1226','Bamforth-Lazarus syndrome','Malformation syndrome','A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.'),('1227','Bangstad syndrome','Malformation syndrome','Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.'),('1228','Banki syndrome','Malformation syndrome','Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.'),('1229','Congenital intrauterine infection-like syndrome','Malformation syndrome','Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.'),('123','Björnstad syndrome','Disease','Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti.'),('1231','Barber-Say syndrome','Malformation syndrome','Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.'),('1232','NON RARE IN EUROPE: Barrett esophagus','Disease','no definition available'),('1234','Bartsocas-Papas syndrome','Malformation syndrome','Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.'),('1235','OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome','Disease','no definition available'),('1236','Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome','Malformation syndrome','Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.'),('1237','Beemer-Ertbruggen syndrome','Malformation syndrome','Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.'),('1239','OBSOLETE: Behr syndrome','Malformation syndrome','no definition available'),('124','Blackfan-Diamond anemia','Disease','Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.'),('1240','Metaphyseal acroscyphodysplasia','Disease','Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.'),('1241','Bencze syndrome','Malformation syndrome','Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.'),('1243','Best vitelliform macular dystrophy','Disease','Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.'),('1244','NON RARE IN EUROPE: Bicuspid aortic valve','Morphological anomaly','no definition available'),('1245','BIDS syndrome','Malformation syndrome','no definition available'),('1246','Brachydactyly-nystagmus-cerebellar ataxia syndrome','Malformation syndrome','Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.'),('1247','Schistosomiasis','Disease','Schistosomiasis is an infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer`s itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.'),('1248','Maxillonasal dysplasia','Malformation syndrome','Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.'),('1249','OBSOLETE: Binswanger disease','Disease','no definition available'),('125','Bloom syndrome','Disease','Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.'),('1250','OBSOLETE: Blaichman syndrome','Malformation syndrome','no definition available'),('1251','Blepharofacioskeletal syndrome','Malformation syndrome','no definition available'),('1252','Blepharonasofacial malformation syndrome','Malformation syndrome','Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.'),('1253','Ascher syndrome','Malformation syndrome','A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.'),('1256','OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome','Malformation syndrome','no definition available'),('1258','OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome','Malformation syndrome','no definition available'),('1259','Blepharoptosis-myopia-ectopia lentis syndrome','Disease','This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.'),('126','Blepharophimosis-ptosis-epicanthus inversus syndrome','Malformation syndrome','A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).'),('1260','OBSOLETE: Sino-auricular heart block','Disease','no definition available'),('1261','Bonnemann-Meinecke-Reich syndrome','Malformation syndrome','Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.'),('1262','Böök syndrome','Malformation syndrome','Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.'),('1263','Boomerang dysplasia','Disease','Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.'),('1264','Tricho-retino-dento-digital syndrome','Malformation syndrome','Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.'),('1266','Dermato-cardio-skeletal syndrome, Borrone type','Malformation syndrome','no definition available'),('1267','Botulism','Disease','Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.'),('127','Borjeson-Forssman-Lehmann syndrome','Malformation syndrome','Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.'),('1270','Bowen-Conradi syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.'),('1271','Bowen syndrome','Disease','no definition available'),('1272','Aymé-Gripp syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum, and digital anomalies.'),('1275','Brachydactyly-elbow wrist dysplasia syndrome','Malformation syndrome','Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.'),('1276','Brachydactyly-arterial hypertension syndrome','Malformation syndrome','Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.'),('1277','Brachydactyly-mesomelia-intellectual disability-heart defects syndrome','Malformation syndrome','Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).'),('1278','Brachydactyly-preaxial hallux varus syndrome','Malformation syndrome','A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals.'),('128','Diphyllobothriasis','Disease','Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).'),('129','Pseudopelade of Brocq','Disease','Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.'),('1292','Brachymorphism-onychodysplasia-dysphalangism syndrome','Malformation syndrome','Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome (see this term) and BOD syndrome are perhaps allelic variants.'),('1293','Brachyolmia','Clinical group','Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.'),('1295','Brachytelephalangy-dysmorphism-Kallmann syndrome','Malformation syndrome','Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.'),('1296','Lambert syndrome','Malformation syndrome','Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.'),('1297','Branchio-oculo-facial syndrome','Malformation syndrome','Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears (`burn-like` lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.'),('1299','Branchioskeletogenital syndrome','Malformation syndrome','Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.'),('13','6-pyruvoyl-tetrahydropterin synthase deficiency','Clinical subtype','6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.'),('130','Brugada syndrome','Disease','Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.'),('1300','Autosomal dominant popliteal pterygium syndrome','Malformation syndrome','A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.'),('1301','Bronchiectasis-oligospermia syndrome','Disease','no definition available'),('1302','Cryptogenic organizing pneumonia','Disease','Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.'),('1303','Bronchiolitis obliterans with obstructive pulmonary disease','Disease','Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.'),('1304','Brucellosis','Disease','Brucellosis is an anthropozoonotic infection, endemic in the Mediterranean region, the Middle East, Latin America and parts of Asia and Africa, that is caused by gram-negative coccobacilli of the genus Brucella transmitted through consumption of unpasteurized dairy products or through direct contact with infected animals, placentas or aborted fetuses. Brucellosis is characterized by fever, fatigue, malaise, headache, anorexia, weight loss, sweating, osteomuscular pain (joint and lumbar pain), and arthritis.'),('1305','Feingold syndrome','Malformation syndrome','Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.'),('1306','Buschke-Ollendorff syndrome','Malformation syndrome','Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones``) in the skeleton and connective tissue nevi in the skin.'),('1307','Distal limb deficiencies-micrognathia syndrome','Malformation syndrome','The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.'),('1308','C syndrome','Malformation syndrome','C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.'),('1309','Medullary sponge kidney','Morphological anomaly','no definition available'),('131','Budd-Chiari syndrome','Disease','Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.'),('1310','Caffey disease','Malformation syndrome','Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.'),('1313','Infantile choroidocerebral calcification syndrome','Disease','A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.'),('1314','Symmetrical thalamic calcifications','Disease','Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.'),('1317','CAMFAK syndrome','Disease','no definition available'),('1318','Campomelia, Cumming type','Malformation syndrome','Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.'),('1319','Camptobrachydactyly','Malformation syndrome','Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.'),('132','Butyrylcholinesterase deficiency','Disease','Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.'),('1320','Idiopathic camptocormia','Morphological anomaly','Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.'),('1321','Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome','Malformation syndrome','Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.'),('1323','Camptodactyly-joint contractures-facial skeletal defects syndrome','Malformation syndrome','Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).'),('1325','Camptodactyly-taurinuria syndrome','Malformation syndrome','Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.'),('1326','Camptodactyly syndrome, Guadalajara type 2','Malformation syndrome','Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.'),('1327','Camptodactyly syndrome, Guadalajara type 1','Malformation syndrome','Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.'),('1328','Camurati-Engelmann disease','Malformation syndrome','Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.'),('1329','Complete atrioventricular septal defect','Morphological anomaly','Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.'),('133','Chronic beryllium disease','Disease','A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.'),('1330','Partial atrioventricular septal defect','Morphological anomaly','A congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.'),('1331','Familial prostate cancer','Disease','Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.'),('1332','Medullary thyroid carcinoma','Disease','Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).'),('1333','Familial pancreatic carcinoma','Disease','Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.'),('1334','Chronic mucocutaneous candidiasis','Disease','Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.'),('1335','Pentalogy of Cantrell','Malformation syndrome','Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.'),('1336','Hyperkeratosis-hyperpigmentation syndrome','Disease','Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.'),('1338','Heart defect-tongue hamartoma-polysyndactyly syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.'),('1339','OBSOLETE: Cranioacrofacial syndrome','Malformation syndrome','no definition available'),('134','Beta-ketothiolase deficiency','Disease','A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.'),('1340','Cardiofaciocutaneous syndrome','Malformation syndrome','Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphism, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.'),('1342','Heart-hand syndrome type 3','Malformation syndrome','Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.'),('1344','Atrial standstill','Disease','A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.'),('1345','Cardiomyopathy-cataract-hip spine disease syndrome','Disease','Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.'),('1349','Mitochondrial DNA-related cardiomyopathy and hearing loss','Malformation syndrome','Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.'),('135','CACH syndrome','Disease','A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy`` aspect.'),('1350','Heart-hand syndrome type 2','Malformation syndrome','Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).'),('1352','Atrioventricular defect-blepharophimosis-radial and anal defect syndrome','Malformation syndrome','A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.'),('1354','Heart defects-limb shortening syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.'),('1355','Congenital heart defect-round face-developmental delay syndrome','Malformation syndrome','Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.'),('1358','Carey-Fineman-Ziter syndrome','Malformation syndrome','Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.'),('1359','Carney complex','Disease','Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.'),('136','Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy','Disease','CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.'),('1361','Carnosinase deficiency','Biological anomaly','Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.'),('1366','Autosomal recessive palmoplantar keratoderma and congenital alopecia','Disease','Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.'),('1368','Cataract-ataxia-deafness syndrome','Disease','Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.'),('1369','Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome','Disease','Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.'),('137','Congenital disorder of glycosylation','Category','A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.'),('1373','Cataract-aberrant oral frenula-growth delay syndrome','Malformation syndrome','Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.'),('1375','Cataract-hypertrichosis-intellectual disability syndrome','Malformation syndrome','Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.'),('137577','Neonatal hypoxic and ischemic brain injury','Particular clinical situation in a disease or syndrome','A rare neonatal encephalopathy characterized by alterations in mental status ranging from irritability and decreased responsiveness to coma, as well as abnormal primitive reflexes, hypotonia, seizures, and abnormalities in feeding and respiration, with an onset within the first hours of life. The condition is associated with high mortality. Long-term sequelae include a spectrum of signs and symptoms including behavioral deficits, developmental delay, learning disabilities, cognitive impairment, seizures, visual and auditory dysfunction, and cerebral palsy.'),('137583','Vulvar intraepithelial neoplasia','Disease','A rare vulvovaginal tumor characterized by intraepithelial neoplastic proliferation of the vulvar epithelium, histologically presenting proliferation of atypical basal cells with basal layer involvement, enlarged nuclei, hyperchromasia, pleomorphic cells and increased numbers of mitotic figures. Patients are frequently asymptomatic, although vulvar pruritis/pain/burning, dysuria and/or dyspareunia may be associated. Concurrent anogenital involvement is frequent. Two subtypes, usual type VIN (uVIN) and differentiated type VIN (dVIN) exist, with uVIN typically being associated with HPV infection and presenting multifocal, elevated lesions around the introitus and/or labia majora, and dVIN being related to chronic inflammation and lesions consisting of poorly demarcated pink or white plaques that are often associated with lichen sclerosis or lichen planus. Diffusely positive p16 immunohistochemistry and high Ki-67 proliferation index in uVIN futher differentiates this subtype from dVIN, this latter being consistently negative for p16 while presenting p53 positivity.'),('137586','OBSOLETE: Herpes simplex virus keratitis','Category','no definition available'),('137593','Infectious epithelial keratitis','Disease','Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.'),('137596','Neurotrophic keratopathy','Disease','Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.'),('137599','Herpes simplex virus stromal keratitis','Disease','Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.'),('1376','OBSOLETE: Congenital cataract-ichthyosis syndrome','Disease','no definition available'),('137602','Endotheliitis','Disease','no definition available'),('137605','Legius syndrome','Malformation syndrome','Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.'),('137608','Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome','Malformation syndrome','Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.'),('137617','Nephrogenic systemic fibrosis','Disease','Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.'),('137622','Intractable diarrhea-choanal atresia-eye anomalies syndrome','Malformation syndrome','Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.'),('137625','Glycogen storage disease due to muscle and heart glycogen synthase deficiency','Disease','Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.'),('137628','Cardiac anomalies-heterotaxy syndrome','Malformation syndrome','Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.'),('137631','Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome','Disease','Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.'),('137634','Overgrowth-macrocephaly-facial dysmorphism syndrome','Malformation syndrome','This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.'),('137639','Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome','Clinical subtype','no definition available'),('137653','Microcephaly-digital anomalies-intellectual disability syndrome','Malformation syndrome','no definition available'),('137658','Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome','Malformation syndrome','no definition available'),('137667','Capillary malformation-arteriovenous malformation','Malformation syndrome','This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.'),('137672','Pellucid marginal degeneration','Disease','no definition available'),('137675','Histiocytoid cardiomyopathy','Disease','A rare arrhythmogenic disorder characterized by cardiomymegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.'),('137678','Czech dysplasia, metatarsal type','Disease','A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.'),('137681','Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1','Disease','Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.'),('137686','Asherman syndrome','Disease','A rare, acquired uterine disease characterized by intrauterine adhesions associated with a history of curettage or intrauterine surgery and gynecological symptoms (secondary amenorrhea, hypomenorrhea, pelvic pain, infertility or pregnancy loss).'),('137698','Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk','Particular clinical situation in a disease or syndrome','no definition available'),('1377','Cataract-microcornea syndrome','Malformation syndrome','Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.'),('137754','Neurological conditions associated with aminoacylase 1 deficiency','Disease','An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.'),('137776','Lethal congenital contracture syndrome type 2','Malformation syndrome','Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.'),('137783','Lethal congenital contracture syndrome type 3','Malformation syndrome','Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.'),('137807','Primary cutaneous amyloidosis','Clinical group','Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms).'),('137810','Nodular cutaneous amyloidosis','Disease','Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms).'),('137814','Macular amyloidosis','Disease','Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.'),('137817','Arachnoiditis','Disease','A chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.'),('137820','Extrapelvic endometriosis','Disease','Rare endometriosis is a rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.'),('137831','X-linked intellectual disability-cerebellar hypoplasia syndrome','Disease','X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.'),('137834','Frank-Ter Haar syndrome','Disease','A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.'),('137839','Lemierre syndrome','Disease','Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.'),('137862','Martínez-Frías syndrome','Malformation syndrome','no definition available'),('137867','Madras motor neuron disease','Disease','Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.'),('137871','OBSOLETE: Laminopathy type Decaudain-Vigouroux','Disease','no definition available'),('137888','Auriculocondylar syndrome','Malformation syndrome','A rare disorder that presents with bilateral external ear malformations (`question mark` ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.'),('137893','Male infertility due to large-headed multiflagellar polyploid spermatozoa','Clinical subtype','Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).'),('137898','Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome','Disease','This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.'),('137902','Isolated optic nerve hypoplasia/aplasia','Morphological anomaly','A rare genetic optic nerve disorder characterized by visual impairment or blindness resulting from varying degrees of underdevelopment of the optic nerve or even complete absence of the optic nerve, ganglion cells, and central retinal vessels. It may be unilateral, typically with otherwise normal brain development, or bilateral with accompanying severe and widespread congenital malformations of the central nervous system.'),('137905','Syndromic optic nerve hypoplasia','Category','no definition available'),('137908','Hypotonia with lactic acidemia and hyperammonemia','Disease','This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.'),('137911','Autism-facial port-wine stain syndrome','Malformation syndrome','This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.'),('137914','Choanal atresia','Morphological anomaly','Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.'),('137917','Choanal atresia, unilateral','Clinical subtype','Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.'),('137920','Choanal atresia, bilateral','Clinical subtype','Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.'),('137923','OBSOLETE: Cervicofacial lymphatic malformation','Malformation syndrome','no definition available'),('137926','Primary laryngeal lymphangioma','Malformation syndrome','Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.'),('137929','Neonatal brainstem dysfunction','Disease','Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.'),('137932','Congenital laryngeal palsy','Malformation syndrome','Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.'),('137935','Laryngotracheal angioma','Disease','no definition available'),('138','CHARGE syndrome','Malformation syndrome','CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C`s).'),('1380','Cataract-nephropathy-encephalopathy syndrome','Malformation syndrome','Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.'),('138041','Pierre Robin syndrome associated with collagen disease','Category','no definition available'),('138044','Rare disease with Pierre Robin syndrome','Category','no definition available'),('138047','Pierre Robin syndrome associated with a chromosomal anomaly','Category','no definition available'),('138050','Pierre Robin syndrome associated with branchial archs anomalies','Category','no definition available'),('138055','Pierre Robin syndrome associated with bone disease','Category','no definition available'),('138059','Teratogenic Pierre Robin syndrome','Category','no definition available'),('138063','OBSOLETE: Syndrome associated with Pierre Robin syndrome','Clinical group','no definition available'),('138066','OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies','Clinical group','no definition available'),('138069','Sucking/swallowing disorder not related with Pierre Robin syndrome','Category','no definition available'),('138072','Sucking/swallowing disorder associated with an identified syndrome','Category','no definition available'),('138076','Sucking/swallowing disorder associated to a chromosomal anomaly','Category','no definition available'),('138080','Syndromic sucking/swallowing disorder with unidentifyed syndrome','Category','no definition available'),('138084','Sucking/swallowing disorder associated to cervicofacial or esophageal malformation','Category','no definition available'),('138095','Sucking/swallowing disorder associated with neurologic anomalies','Category','no definition available'),('1381','Cataract-intellectual disability-anal atresia-urinary defects syndrome','Malformation syndrome','Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.'),('138101','Sucking/swallowing disorder associated with suprabulbar anomalies','Category','no definition available'),('138104','Sucking/swallowing disorder associated with basal ganglia anomalies','Category','no definition available'),('138109','Sucking/swallowing disorder associated with posterior fossa anomalies','Category','no definition available'),('138112','Sucking/swallowing disorder associated with cerebellar anomalies','Category','no definition available'),('138115','Sucking/swallowing disorder associated with a neuromuscular disease','Category','no definition available'),('138118','OBSOLETE: Acquired alimentary behavior disorder of infancy','Clinical group','no definition available'),('138221','Rare sucking/swallowing disorder','Category','no definition available'),('1383','Cataract-deafness-hypogonadism syndrome','Malformation syndrome','Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.'),('1387','Cataract-intellectual disability-hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.'),('1388','Catel-Manzke syndrome','Malformation syndrome','Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.'),('1389','Cortical blindness-intellectual disability-polydactyly syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.'),('139','CHILD syndrome','Disease','CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.'),('1390','Night blindness-skeletal anomalies-dysmorphism syndrome','Malformation syndrome','This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).'),('139006','OBSOLETE: Sequence or association','Clinical group','no definition available'),('139009','Developmental anomaly of metabolic origin','Category','no definition available'),('139012','Rare bone development disorder','Category','no definition available'),('139015','OBSOLETE: Chondrodysplastic malformation syndrome','Clinical group','no definition available'),('139018','OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones','Clinical group','no definition available'),('139021','Malformation syndrome with short stature','Category','no definition available'),('139024','Overgrowth/obesity syndrome','Category','no definition available'),('139027','Rare developmental defect with skin/mucosae involvement','Category','no definition available'),('139030','Rare developmental defect with connective tissue involvement','Category','no definition available'),('139033','Progeroid syndrome','Category','no definition available'),('139036','Branchial arch or oral-acral syndrome','Category','no definition available'),('139039','Orofacial clefting syndrome','Category','no definition available'),('139042','Malformation syndrome with odontal and/or periodontal component','Category','no definition available'),('1393','Cerebrocostomandibular syndrome','Malformation syndrome','Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.'),('139373','OBSOLETE: Recessive hereditary methemoglobinemia type 1','Clinical subtype','no definition available'),('139380','OBSOLETE: Recessive hereditary methemoglobinemia type 2','Clinical subtype','no definition available'),('139390','Isolated craniosynostosis','Clinical group','no definition available'),('139393','Syndromic craniosynostosis','Category','no definition available'),('139396','X-linked cerebral adrenoleukodystrophy','Clinical subtype','A subtype of X-linked adrenoleukodystrophy (X-ALD), a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.'),('139399','Adrenomyeloneuropathy','Clinical subtype','An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.'),('1394','Cerebrofaciothoracic dysplasia','Malformation syndrome','Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.'),('139402','Drug rash with eosinophilia and systemic symptoms','Disease','A rare hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.'),('139406','Encephalopathy due to prosaposin deficiency','Disease','A lysosomal storage disease belonging to the group of sphingolipidoses.'),('139411','Carney triad','Disease','A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.'),('139414','Congenital panfollicular nevus','Disease','Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.'),('139417','Acute transverse myelitis','Disease','A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).'),('139420','Secondary acute transverse myelitis','Clinical subtype','A rare disorder characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.'),('139423','Idiopathic acute transverse myelitis','Clinical subtype','A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.'),('139426','Perioral myoclonia with absences','Disease','A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.'),('139431','Jeavons syndrome','Disease','A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.'),('139436','Multicentric reticulohistiocytosis','Disease','A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.'),('139441','Hypomyelination with atrophy of basal ganglia and cerebellum','Disease','A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.'),('139444','Leukoencephalopathy with bilateral anterior temporal lobe cysts','Disease','A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.'),('139447','Progressive cavitating leukoencephalopathy','Disease','A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.'),('139450','Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome','Malformation syndrome','This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.'),('139455','Autosomal recessive bestrophinopathy','Disease','A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).'),('139466','SERKAL syndrome','Malformation syndrome','SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.'),('139471','Microphthalmia with brain and digit anomalies','Malformation syndrome','Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.'),('139474','17q11.2 microduplication syndrome','Malformation syndrome','17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.'),('139477','Al-Gazali-Dattani syndrome','Malformation syndrome','no definition available'),('139480','Autosomal recessive spastic paraplegia type 39','Disease','This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.'),('139485','Autosomal recessive ataxia due to ubiquinone deficiency','Disease','This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.'),('139491','Hemochromatosis type 4','Disease','Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.'),('139498','NON RARE IN EUROPE: Hemochromatosis type 1','Disease','no definition available'),('139507','African iron overload','Disease','A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.'),('139512','Neuropathy with hearing impairment','Disease','This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.'),('139515','Charcot-Marie-Tooth disease type 4J','Disease','Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.'),('139518','Distal hereditary motor neuropathy type 1','Disease','Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.'),('139525','Distal hereditary motor neuropathy type 2','Disease','no definition available'),('139536','Distal hereditary motor neuropathy type 5','Disease','no definition available'),('139547','Distal spinal muscular atrophy type 3','Disease','Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.'),('139552','Distal hereditary motor neuropathy, Jerash type','Disease','A rare, genetic, neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).'),('139557','X-linked distal spinal muscular atrophy type 3','Disease','X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.'),('139564','Hereditary sensory and autonomic neuropathy type 1B','Disease','Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).'),('139573','Hereditary sensory and autonomic neuropathy with deafness and global delay','Disease','This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.'),('139578','Mutilating hereditary sensory neuropathy with spastic paraplegia','Disease','This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.'),('139583','X-linked hereditary sensory and autonomic neuropathy with deafness','Disease','This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.'),('139589','Distal hereditary motor neuropathy type 7','Disease','A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.'),('1396','OBSOLETE: Cerebrorenodigital syndrome','Malformation syndrome','no definition available'),('1397','Hydrocephaly-cerebellar agenesis syndrome','Malformation syndrome','A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth and is fatal in the neonatal period. There have been no further descriptions in the literature since 1973.'),('1398','Isolated cerebellar agenesis','Morphological anomaly','A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.'),('1399','Richards-Rundle syndrome','Malformation syndrome','Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.'),('14','Abetalipoproteinemia','Disease','A severe, familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.'),('140','Campomelic dysplasia','Malformation syndrome','Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).'),('1401','CHAND syndrome','Malformation syndrome','no definition available'),('140162','Inherited cancer-predisposing syndrome','Category','no definition available'),('140286','Secondary hypoparathyroidism due to impaired parathormon secretion','Disease','no definition available'),('140428','OBSOLETE: Hereditary iron overload with neurologic manifestation','Category','no definition available'),('140432','OBSOLETE: Hereditary iron overload with anemia','Category','no definition available'),('140436','Primary intraosseous venous malformation','Disease','Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.'),('140450','OBSOLETE: Hereditary motor and sensory neuropathy','Category','no definition available'),('140453','Autosomal dominant hereditary demyelinating motor and sensory neuropathy','Category','no definition available'),('140456','Autosomal dominant hereditary axonal motor and sensory neuropathy','Category','no definition available'),('140459','Autosomal recessive hereditary demyelinating motor and sensory neuropathy','Category','no definition available'),('140462','OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy','Category','no definition available'),('140465','Autosomal dominant distal hereditary motor neuropathy','Category','no definition available'),('140468','Autosomal recessive distal hereditary motor neuropathy','Category','no definition available'),('140471','Hereditary sensory and autonomic neuropathy','Clinical group','no definition available'),('140474','Autosomal dominant hereditary sensory and autonomic neuropathy','Category','no definition available'),('140477','Autosomal recessive hereditary sensory and autonomic neuropathy','Category','no definition available'),('140481','Autosomal dominant slowed nerve conduction velocity','Disease','A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.'),('140500','OBSOLETE: Neurological channelopathy','Category','no definition available'),('140503','OBSOLETE: Channelopathy','Category','no definition available'),('1406','Charlie M syndrome','Malformation syndrome','Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.'),('140653','Neuro-ophthalmological disease','Category','no definition available'),('1408','Hair defect-photosensitivity-intellectual disability syndrome','Malformation syndrome','no definition available'),('140874','Joubert syndrome and related disorders','Category','Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign`` (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.'),('140896','Severe acute respiratory syndrome','Disease','A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).'),('1409','Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome','Malformation syndrome','no definition available'),('140905','Hyperlipidemia due to hepatic triacylglycerol lipase deficiency','Disease','Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.'),('140908','Brachydactyly type B2','Clinical subtype','A rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.'),('140917','Stapes ankylosis with broad thumbs and toes','Malformation syndrome','Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.'),('140922','Titin-related limb-girdle muscular dystrophy R10','Disease','A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.'),('140927','Benign familial neonatal-infantile seizures','Disease','Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.'),('140933','Linear atrophoderma of Moulin','Disease','Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.'),('140936','Lelis syndrome','Malformation syndrome','Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.'),('140941','Short stature due to primary acid-labile subunit deficiency','Disease','Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.'),('140944','CLOVES syndrome','Malformation syndrome','CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.'),('140949','Low-flow priapism','Particular clinical situation in a disease or syndrome','no definition available'),('140952','Syndactyly-telecanthus-anogenital and renal malformations syndrome','Malformation syndrome','This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.'),('140957','Autosomal dominant macrothrombocytopenia','Disease','This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.'),('140963','Bilateral microtia-deafness-cleft palate syndrome','Malformation syndrome','This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.'),('140966','Palmoplantar keratoderma, Nagashima type','Disease','Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda (see this term).'),('140969','Saldino-Mainzer syndrome','Disease','Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.'),('140976','RHYNS syndrome','Disease','RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.'),('140989','Primary angiitis of the central nervous system','Disease','A rare neurologic disease characterized by focal and diffuse neurologic symptoms due to vasculitis of the intracerebral blood vessels. Most common manifestations are insidiously progressive headaches and cognitive impairment, in addition to stroke and transient ischemic attacks, seizures, aphasia, and visual field deficits, among others. Signs of vasculitis outside the central nervous system are rare, serologic markers of inflammation are typically normal. Cerebrospinal fluid analysis may reveal elevations in total protein level and cell count.'),('140997','Orofaciodigital syndrome','Clinical group','no definition available'),('141','Canavan disease','Disease','Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.'),('1410','Uncombable hair syndrome','Disease','Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.'),('141000','Orofaciodigital syndrome type 11','Malformation syndrome','Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.'),('141007','Orofaciodigital syndrome type 9','Malformation syndrome','Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).'),('141013','First branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.'),('141022','Second branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae ans sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia.'),('141030','Third branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia,and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula.'),('141037','Fourth branchial cleft anomaly','Morphological anomaly','A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.'),('141046','Cervical dermoid cyst','Morphological anomaly','Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.'),('141051','Facial dermoid cyst','Morphological anomaly','Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.'),('141061','Commissural lip fistula','Morphological anomaly','no definition available'),('141064','Lower lip fistula','Morphological anomaly','no definition available'),('141067','Cervicofacial fibrochondroma','Morphological anomaly','A rare extraskeletal chondroma located in the head and neck region, histologically typically characterized by lobules of mature, adult hyaline cartilage with chondrocytic cells identifiable in lacunae, and prominent fibrosis. Malignant transformation has not been described.'),('141071','Digestive duplication cyst of the tongue','Morphological anomaly','Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.'),('141074','External auditory canal aplasia/hypoplasia','Morphological anomaly','A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.'),('141077','Epignathus','Clinical subtype','Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.'),('141083','Nasolacrimal duct cyst','Morphological anomaly','Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.'),('141091','Polyrrhinia','Malformation syndrome','Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.'),('141096','Supernumerary nostril','Malformation syndrome','Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia (see this term) there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.'),('141099','Proboscis lateralis','Malformation syndrome','Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).'),('141103','Nasal dermoid cyst','Morphological anomaly','A rare otorhinolaryngological malformation characterized by a dermoid cyst along the nasal dorsum or glabella, lined by keratinized squamous epithelium and containing intraluminal keratin and mature adnexal structures, such as hair follicles, sebaceous and sweat glands. The majority of nasal dermoid cysts are superficial, rarely they extend intracranially. The cysts are typically benign but are susceptible to recurrent infections that may progress to osteomyelitis, meningitis or an intracranial abscess.'),('141107','Nasopharyngeal teratoma','Clinical subtype','no definition available'),('141112','Nasal glial heterotopia','Disease','Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.'),('141115','Nasal ganglioglioma','Clinical subtype','Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.'),('141118','Nasal encephalocele','Clinical subtype','Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.'),('141121','Congenital subglottic stenosis','Malformation syndrome','A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other congenital anomalies and syndromes.'),('141124','Congenital laryngeal cyst','Morphological anomaly','Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.'),('141127','Congenital tracheal stenosis','Morphological anomaly','A rare malformation characterized by fixed narrowing of the tracheal lumen primarily due to complete tracheal cartilage rings and an absent membranous trachea, which causes breathing difficulty.'),('141132','Oculo-auriculo-vertebral spectrum','Malformation syndrome','A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.'),('141136','Otomandibular syndrome','Malformation syndrome','no definition available'),('141145','Hemifacial hyperplasia','Malformation syndrome','Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.'),('141148','Hemifacial myohyperplasia','Malformation syndrome','Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.'),('141152','Isolated congenital hypoglossia/aglossia','Morphological anomaly','Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).'),('141163','Glossopalatine ankylosis','Malformation syndrome','Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.'),('141168','Frontonasal arteriovenous malformation','Malformation syndrome','Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.'),('141171','Maxillary arteriovenous malformation','Malformation syndrome','Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.'),('141174','Mandibular arteriovenous malformation','Malformation syndrome','Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.'),('141179','Non-involuting congenital hemangioma','Disease','Non-involuting congenital hemangiomas (NICH) are a distinctive type of large congenital hemangioma that are fully formed in utero and differ from rapidly involuting congenital hemangiomas (RICH; see this term) mainly because they do not undergo a postnatal involuting phase.'),('141184','Rapidly involuting congenital hemangioma','Disease','Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH; see this term) mainly because they undergo rapid postnatal involution.'),('141189','Cerebrofacial arteriovenous metameric syndrome','Clinical group','A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible.'),('141194','Cerebrofacial arteriovenous metameric syndrome type 1','Malformation syndrome','A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the hypothalamus and nasal region (medial prosencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.'),('141199','Cerebrofacial arteriovenous metameric syndrome type 3','Malformation syndrome','A rare subtype of cerebrofacial arteriovenous metameric syndrome characterized by unilateral arteriovenous malformations involving the cerebellum, pons, and mandible (lateral rhombencephalic group). The condition manifests in childhood. Common presenting signs and symptoms are progressive neurological deficit, hemorrhage, and cosmetic complaints like facial asymmetry.'),('1412','Tarsal-carpal coalition syndrome','Malformation syndrome','Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.'),('141209','Diffuse lymphatic malformation','Malformation syndrome','A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality.'),('141214','Isolated congenital syngnathia','Malformation syndrome','Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.'),('141219','Nasal dorsum fistula','Morphological anomaly','A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.'),('141229','Facial cleft','Category','no definition available'),('141234','Median facial cleft','Clinical group','no definition available'),('141239','Median cleft of the upper lip and maxilla','Morphological anomaly','Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaxillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.'),('141242','Paramedian nasal cleft','Morphological anomaly','Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.'),('141253','Oblique facial cleft','Clinical group','no definition available'),('141258','Tessier number 4 facial cleft','Morphological anomaly','A rare oblique facial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid`s bow, then running lateral to the nasal wing, to the lower eyelid lateral to the inferior punctum. Involvement of the facial skeleton begins between the lateral incisors and the canine tooth, involving the maxillary sinus, and ending at the infraorbital rim. Variable involvement of the eye can result in micro- or even anophthalmus.'),('141261','Tessier number 5 facial cleft','Morphological anomaly','no definition available'),('141265','Tessier number 6 facial cleft','Morphological anomaly','no definition available'),('141269','Lateral facial cleft','Clinical group','no definition available'),('141276','Tessier number 7 facial cleft','Morphological anomaly','no definition available'),('141288','Midline cervical cleft','Morphological anomaly','Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.'),('141291','Cleft lip and alveolus','Morphological anomaly','Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.'),('141327','Orofaciodigital syndrome type 12','Malformation syndrome','Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.'),('141330','Orofaciodigital syndrome type 13','Malformation syndrome','Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.'),('141333','Biemond syndrome type 2','Disease','Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.'),('1414','Cholestasis-lymphedema syndrome','Disease','Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.'),('1415','Cholestasis-pigmentary retinopathy-cleft palate syndrome','Malformation syndrome','Cholestasis-pigmentary retinopathy-cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat`s paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.'),('1416','Familial calcium pyrophosphate deposition','Disease','Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).'),('1417','OBSOLETE: Platyspondylic lethal chondrodysplasia','Malformation syndrome','no definition available'),('142','Anaplastic thyroid carcinoma','Disease','A disorder that represents the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.'),('1420','OBSOLETE: Lethal chondrodysplasia, Moerman type','Malformation syndrome','no definition available'),('1421','OBSOLETE: Lethal chondrodysplasia, Seller type','Malformation syndrome','no definition available'),('1422','Chondrodysplasia-disorder of sex development syndrome','Malformation syndrome','Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.'),('1423','Lethal recessive chondrodysplasia','Malformation syndrome','Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.'),('1425','Desbuquois syndrome','Malformation syndrome','Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.'),('1426','Greenberg dysplasia','Disease','Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.'),('1427','Otospondylomegaepiphyseal dysplasia','Disease','Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.'),('1428','Familial chondromalacia patellae','Disease','Familial chondromalacia patellae is an extremely rare, inherited patellar dysostosis disorder characterized by chondromalacia of the patella associated with patellar pain and dislocation (distal displacement) upon knee extension. Male-to-male transmission is reported. There have been no further descriptions in the literature since 1963.'),('1429','Benign hereditary chorea','Disease','A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.'),('143','Parathyroid carcinoma','Disease','Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.'),('1431','Paroxysmal dyskinesia','Clinical group','Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome) (see these terms).'),('1432','Autosomal dominant chorioretinopathy-microcephaly syndrome','Malformation syndrome','no definition available'),('1433','Choroidal atrophy-alopecia syndrome','Malformation syndrome','Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.'),('1434','OBSOLETE: Choroideremia-hypopituitarism syndrome','Disease','no definition available'),('1435','Xq21 microdeletion syndrome','Malformation syndrome','Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.'),('1436','X-linked skeletal dysplasia-intellectual disability syndrome','Malformation syndrome','A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.'),('1437','Ring chromosome 1 syndrome','Malformation syndrome','Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.'),('1438','Ring chromosome 10 syndrome','Malformation syndrome','An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.'),('1439','Ring chromosome 12 syndrome','Malformation syndrome','Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.'),('144','Lynch syndrome','Disease','no definition available'),('1440','Ring chromosome 14 syndrome','Malformation syndrome','Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.'),('1441','Ring chromosome 17 syndrome','Malformation syndrome','Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.'),('1442','Ring chromosome 18 syndrome','Malformation syndrome','Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.'),('1443','Ring chromosome 19 syndrome','Malformation syndrome','Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.'),('1444','Ring chromosome 20 syndrome','Malformation syndrome','Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.'),('1445','Ring chromosome 21 syndrome','Malformation syndrome','Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.'),('1446','Ring chromosome 22 syndrome','Malformation syndrome','Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.'),('1447','Ring chromosome 4 syndrome','Malformation syndrome','Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.'),('1448','Ring chromosome 6 syndrome','Malformation syndrome','Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.'),('1449','Ring chromosome 7 syndrome','Malformation syndrome','Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).'),('145','Hereditary breast and ovarian cancer syndrome','Disease','Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.'),('1450','Ring chromosome 8 syndrome','Malformation syndrome','Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).'),('1451','CINCA syndrome','Disease','A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).'),('1452','Cleidocranial dysplasia','Malformation syndrome','Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.'),('1453','Cleidorhizomelic syndrome','Malformation syndrome','Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.'),('1454','Joubert syndrome with hepatic defect','Disease','Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).'),('1455','Autosomal dominant coarctation of aorta','Clinical subtype','A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation.'),('1456','Atypical coarctation of aorta','Clinical subtype','Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).'),('1457','Aorta coarctation','Morphological anomaly','no definition available'),('1458','CODAS syndrome','Malformation syndrome','Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.'),('1459','Celiac disease-epilepsy-cerebral calcification syndrome','Disease','Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.'),('146','Differentiated thyroid carcinoma','Disease','A rare, slow-growing, epithelial thyroid carcinoma typically presenting as an asymptomatic thyroid mass and is classed as either papillary thyroid cancer (PTC), follicular thyroid cancer (FTC) or Hurthle cell thyroid cancer (HCTC).'),('1460','Isolated complex III deficiency','Disease','Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).'),('1461','Criss-cross heart','Morphological anomaly','Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.'),('1463','Triatrial heart','Clinical group','no definition available'),('1464','Univentricular heart','Morphological anomaly','Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.'),('1465','Coffin-Siris syndrome','Malformation syndrome','A rare genetic syndromic intellectual disability characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, coarse facial features, and other variable clinical manifestations.'),('1466','COFS syndrome','Clinical subtype','Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.'),('1467','Cogan syndrome','Disease','A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.'),('147','Carbamoyl-phosphate synthetase 1 deficiency','Disease','A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.'),('1471','Coloboma of macula-brachydactyly type B syndrome','Malformation syndrome','Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.'),('1473','Uveal coloboma-cleft lip and palate-intellectual disability','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.'),('1474','Colobomatous-microphthalmia-heart disease-hearing loss syndrome','Malformation syndrome','no definition available'),('1475','Renal coloboma syndrome','Malformation syndrome','A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.'),('1478','Interatrial communication','Morphological anomaly','Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.'),('1479','Atrial septal defect-atrioventricular conduction defects syndrome','Malformation syndrome','An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.'),('148','Multiple carboxylase deficiency','Clinical group','Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.'),('1480','NON RARE IN EUROPE: Ventricular septal defect','Morphological anomaly','no definition available'),('1482','Gonococcal conjunctivitis','Disease','A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.'),('1484','Contractures-ectodermal dysplasia-cleft lip/palate syndrome','Malformation syndrome','Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.'),('1485','Arthrogryposis-hyperkeratosis syndrome, lethal form','Malformation syndrome','A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.'),('1486','Lethal congenital contracture syndrome type 1','Malformation syndrome','Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.'),('1487','Cooks syndrome','Malformation syndrome','Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.'),('1488','Cooper-Jabs syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.'),('1489','Whooping cough','Disease','A rare bacterial infectious disease characterized by severe coughing paroxysms with inspiratory whooping and posttussive vomiting, caused by infection with Bordetella pertussis. After a variable incubation time, the clinical course progresses through a catarrhal stage with sore throat, nasal congestion, rhinorrhea, and mild progressive dry cough, a paroxysmal stage with the typical paroxysmal coughing, and finally convalescence. Disease duration is usually 2-3 months, often with milder presentation in adolescents and adults than in infants and children.'),('1490','Corneal dystrophy-perceptive deafness syndrome','Malformation syndrome','Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.'),('1492','OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome','Malformation syndrome','no definition available'),('1493','Vici syndrome','Malformation syndrome','Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.'),('1495','Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome','Malformation syndrome','Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.'),('1496','Corpus callosum agenesis-neuronopathy syndrome','Disease','Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and `autistic-like` features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.'),('1497','X-linked complicated corpus callosum dysgenesis','Clinical subtype','X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.'),('1499','OBSOLETE: Cortada-Koussef-Matsumoto syndrome','Malformation syndrome','no definition available'),('15','Achondroplasia','Disease','A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.'),('150','Nasopharyngeal carcinoma','Disease','Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.'),('1501','Adrenocortical carcinoma','Disease','A rare cancer that arises from the adrenal cortex.'),('1505','Short rib-polydactyly syndrome','Clinical group','A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).'),('1506','Thin ribs-tubular bones-dysmorphism syndrome','Malformation syndrome','An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.'),('1507','Autosomal recessive Robinow syndrome','Clinical subtype','Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.'),('1508','Coxoauricular syndrome','Malformation syndrome','Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.'),('1509','Coxopodopatellar syndrome','Disease','Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.'),('151','OBSOLETE: Familial renal cell carcinoma','Clinical group','no definition available'),('1512','Crane-Heise syndrome','Malformation syndrome','Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.'),('1513','Craniodiaphyseal dysplasia','Malformation syndrome','Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.'),('1514','Craniodigital-intellectual disability syndrome','Malformation syndrome','Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled` facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.'),('1515','Cranioectodermal dysplasia','Malformation syndrome','Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).'),('1516','Craniofacial dyssynostosis','Malformation syndrome','Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.'),('1517','Hypertrichotic osteochondrodysplasia, Cantu type','Malformation syndrome','Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.'),('1519','Hypertelorism, Teebi type','Malformation syndrome','Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow`s peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).'),('1520','Craniofrontonasal dysplasia','Malformation syndrome','Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.'),('1521','Craniofrontonasal dysplasia-Poland anomaly syndrome','Malformation syndrome','Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.'),('1522','Craniometaphyseal dysplasia','Malformation syndrome','Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.'),('1524','Craniomicromelic syndrome','Malformation syndrome','Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.'),('1525','Cranio-osteoarthropathy','Malformation syndrome','Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.'),('1526','OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome','Malformation syndrome','no definition available'),('1527','Craniosynostosis, Philadelphia type','Malformation syndrome','Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.'),('1528','Craniotelencephalic dysplasia','Malformation syndrome','Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.'),('1529','Craniofacial-deafness-hand syndrome','Malformation syndrome','Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ``pursed`` mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.'),('1530','OBSOLETE: Craniosynostosis-cataract syndrome','Malformation syndrome','no definition available'),('1531','Craniosynostosis','Category','Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.'),('1532','Gómez-López-Hernández syndrome','Malformation syndrome','Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.'),('1533','Craniosynostosis-fibular aplasia syndrome','Malformation syndrome','Craniosynostosis-fibular aplasia syndrome is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.'),('1534','OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type','Malformation syndrome','no definition available'),('1535','Craniosynostosis-dysmorphism-brachydactyly syndrome','Malformation syndrome','no definition available'),('1538','Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome','Malformation syndrome','Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.'),('154','Familial isolated dilated cardiomyopathy','Disease','Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.'),('1540','Jackson-Weiss syndrome','Malformation syndrome','Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.'),('1541','Craniosynostosis, Boston type','Malformation syndrome','Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.'),('1544','Benign focal seizures of adolescence','Disease','A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy.'),('1545','Crisponi syndrome','Malformation syndrome','Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.'),('1546','Cryptococcosis','Disease','A cosmopolitan fungal infection due to Cryptococcus neoformans.'),('1547','Cryptomicrotia-brachydactyly-excess fingertip arch syndrome','Malformation syndrome','Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.'),('1548','Cryptorchidism-arachnodactyly-intellectual disability syndrome','Malformation syndrome','Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.'),('1549','Cryptosporidiosis','Disease','Cryptosporidiosis is a protozoan disease caused by small coccidia, e.g. Cryptosporidium spp, that colonize the intestinal epithelial cells of humans and of a wide variety of animals.'),('155','NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy','Disease','no definition available'),('1551','Familial benign copper deficiency','Disease','Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1988.'),('1552','Currarino syndrome','Malformation syndrome','Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).'),('1553','Curry-Jones syndrome','Malformation syndrome','Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.'),('1555','Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome','Malformation syndrome','Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.'),('1556','Cutis marmorata telangiectatica congenita','Malformation syndrome','Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.'),('1557','Cutis verticis gyrata-intellectual disability syndrome','Malformation syndrome','no definition available'),('155832','Rare head and neck malformation','Category','no definition available'),('155835','Cysts and fistulae of the face and oral cavity','Category','no definition available'),('155838','Pinnae fistula or cyst','Morphological anomaly','Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.'),('155867','Paramedian facial cleft','Clinical group','no definition available'),('155878','Submucosal cleft palate','Morphological anomaly','no definition available'),('155884','Coloboma of superior eyelid','Morphological anomaly','Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.'),('155889','Coloboma of inferior eyelid','Morphological anomaly','Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.'),('155896','Otomandibular dysplasia','Category','no definition available'),('155899','Mandibulofacial dysostosis','Clinical group','no definition available'),('156','Carnitine palmitoyl transferase 1A deficiency','Disease','Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.'),('1560','Cysticercosis','Disease','Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.'),('156005','Primary early-onset glaucoma','Clinical group','no definition available'),('156071','OBSOLETE: Keratoconus','Category','no definition available'),('1561','Fatal infantile cytochrome C oxidase deficiency','Disease','Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.'),('156140','Predominantly large-vessel vasculitis','Clinical group','no definition available'),('156143','Predominantly medium-vessel vasculitis','Clinical group','no definition available'),('156146','Predominantly small-vessel vasculitis','Clinical group','no definition available'),('156149','Immune complex mediated vasculitis','Category','no definition available'),('156152','Anti-neutrophil cytoplasmic antibody-associated vasculitis','Clinical group','no definition available'),('156156','Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy','Disease','no definition available'),('156159','Isolated dystonia','Category','no definition available'),('156162','Nephropathy-associated ciliopathy','Category','no definition available'),('156165','Retinal ciliopathy','Category','no definition available'),('156168','Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene','Category','no definition available'),('156171','Retinal ciliopathy due to mutation in the RPGR gene','Category','no definition available'),('156174','Retinal ciliopathy due to mutation in the RPGRIP gene','Category','no definition available'),('156177','Retinal ciliopathy due to mutation in Usher gene','Category','no definition available'),('156180','Retinal ciliopathy due to mutation in nephronophthisis gene','Category','no definition available'),('156183','Retinal ciliopathy due to mutation in Bardet-Biedl gene','Category','no definition available'),('1562','Dacryocystitis-osteopoikilosis syndrome','Malformation syndrome','Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).'),('156202','Otomandibular dysplasia associated with monogenic syndromes','Category','no definition available'),('156207','Macroglossia','Category','no definition available'),('156212','Hypoglossia/aglossia','Category','no definition available'),('156215','Oromandibular-limb anomalies syndrome','Category','no definition available'),('156224','Paralytic facial malformation','Category','no definition available'),('156230','Facial arteriovenous malformation','Clinical group','Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.'),('156237','Syndrome or malformation associated with head and neck malformations','Category','no definition available'),('156243','Pinnae and external auditory canal anomaly','Category','no definition available'),('156246','Nose and cavum anomaly','Category','no definition available'),('156249','Larynx anomaly','Category','no definition available'),('156252','Tracheal anomaly','Category','no definition available'),('1563','Dahlberg-Borer-Newcomer syndrome','Malformation syndrome','Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.'),('1564','Dandy-Walker malformation-facial hemangioma syndrome','Malformation syndrome','no definition available'),('156532','Rare syndrome with cardiac malformations','Category','no definition available'),('1566','Dandy-Walker malformation-postaxial polydactyly syndrome','Malformation syndrome','Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.'),('156601','Rare genetic hepatic disease','Category','no definition available'),('156604','Genetic parenchymatous liver disease','Category','no definition available'),('156607','Genetic biliary tract disease','Category','no definition available'),('156610','Rare genetic respiratory disease','Category','no definition available'),('156619','Rare genetic urogenital disease','Category','no definition available'),('156622','Genetic urogenital tract malformation','Category','no definition available'),('156629','Rare genetic cause of hypertension','Category','no definition available'),('156638','Rare genetic endocrine disease','Category','no definition available'),('156643','Genetic endocrine growth disease','Category','no definition available'),('156723','Piepkorn dysplasia','Disease','no definition available'),('156728','Spondyloepimetaphyseal dysplasia, matrilin-3 type','Disease','Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.'),('156731','Dyssegmental dysplasia, Rolland-Desbuquois type','Disease','no definition available'),('1568','X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome','Malformation syndrome','X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.'),('1569','De Sanctis-Cacchione syndrome','Disease','no definition available'),('157','Carnitine palmitoyltransferase II deficiency','Disease','Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).'),('1570','Symbrachydactyly of hands and feet','Malformation syndrome','Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.'),('1571','Knobloch syndrome','Malformation syndrome','A rare systemic disorder characterized by vitreoretinal and macular degeneration, as well as occipital encephalocele.'),('1572','Common variable immunodeficiency','Disease','Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.'),('157215','Hereditary hypophosphatemic rickets with hypercalciuria','Disease','Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.'),('1573','Hypotrichosis with juvenile macular degeneration','Malformation syndrome','Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.'),('1574','Retinal degeneration-nanophthalmos-glaucoma syndrome','Malformation syndrome','Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.'),('1575','OBSOLETE: Infantile striatothalamic degeneration','Disease','no definition available'),('1576','Infantile bilateral striatal necrosis','Clinical group','Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).'),('1577','OBSOLETE: Infantile thalamic degeneration','Disease','no definition available'),('157713','Congenital or early infantile CACH syndrome','Clinical subtype','no definition available'),('157716','Late infantile CACH syndrome','Clinical subtype','no definition available'),('157719','Juvenile or adult CACH syndrome','Clinical subtype','no definition available'),('157769','Situs ambiguus','Morphological anomaly','A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.'),('157788','Hypospadias-hypertelorism-coloboma and deafness syndrome','Malformation syndrome','no definition available'),('157791','Epithelioid hemangioendothelioma','Disease','A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.'),('157794','Hereditary mixed polyposis syndrome','Disease','Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.'),('157798','Hyperplastic polyposis syndrome','Disease','Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.'),('1578','Pterin-4 alpha-carbinolamine dehydratase deficiency','Clinical subtype','Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.'),('157801','Mesoaxial synostotic syndactyly with phalangeal reduction','Morphological anomaly','Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.'),('157808','Congenital pseudoarthrosis of the limbs','Morphological anomaly','Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.'),('157820','Cold-induced sweating syndrome','Disease','Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.'),('157823','Klüver-Bucy syndrome','Clinical syndrome','A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.'),('157826','Congenital epulis','Disease','A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.'),('157832','Craniorhiny','Malformation syndrome','A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmertical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.'),('157835','Paroxysmal hemicrania','Disease','A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.'),('157843','Trigeminal autonomic cephalalgia','Clinical group','no definition available'),('157846','Neuroferritinopathy','Disease','Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.'),('157850','Pantothenate kinase-associated neurodegeneration','Disease','Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.'),('157855','HARP syndrome','Clinical subtype','no definition available'),('157938','OBSOLETE: Joker disease','Disease','no definition available'),('157941','Huntington disease-like 1','Disease','A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.'),('157946','Huntington disease-like 3','Disease','Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.'),('157949','Combined immunodeficiency with granulomatosis','Disease','A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.'),('157954','ANE syndrome','Disease','A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.'),('157962','Oculoauricular syndrome, Schorderet type','Malformation syndrome','Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).'),('157965','SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome','Clinical subtype','A rare subtype of spondylodysplastic Ehlers-Danlos syndrome (EDS) characterized by the presence of classic cutaneous features of EDS (i.e. hyperextensible, soft, doughy, thin translucent skin with atrophic scarring) associated with short stature (progressive in childhood), protuberant eyes with bluish sclerae, excessively wrinkled palms, hypotrophic thenar muscles, tapering fingers, and hypermobile distal joints with tendency to contractures, due to mutations in the SLC39A13 gene. Characteristic radiological findings include platyspondyly, osteopenia (predominantly in the vertebrae), widened metaphyses (elbow, wrist, interphalanges), flat epiphyses (femoral neck and short tubular bones), and small broad ilea.'),('157973','Congenital muscular dystrophy due to LMNA mutation','Disease','Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.'),('157980','NON RARE IN EUROPE: Bladder cancer','Disease','no definition available'),('157987','Non-Langerhans cell histiocytosis','Clinical group','no definition available'),('157991','Generalized eruptive histiocytosis','Disease','no definition available'),('157997','Benign cephalic histiocytosis','Disease','A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.'),('158','Systemic primary carnitine deficiency','Disease','A disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.'),('1580','Distal monosomy 10p','Malformation syndrome','Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.'),('158000','Juvenile xanthogranuloma','Disease','Juvenile xanthogranuloma is the most common type of non-Langerhans cell histiocytosis (see this term) characterized by the occurrence of one or more reddish or yellowish self-limiting and benign papules or nodules of several millimeters in diameter, usually appearing on the head and neck (but sometimes on the extremities and trunk) during the first year of life (or rarely in adulthood) and usually regressing spontaneously. Extracutaneous involvement has also been reported, involving most commonly the eye (uveal tract) but with other locations including the central nervous system, lung, liver, bones and endocrine glands, and may be associated with considerable morbidity.'),('158003','Xanthoma disseminatum','Disease','A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.'),('158008','Papular xanthoma','Disease','Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.'),('158011','Necrobiotic xanthogranuloma','Disease','Necrobiotic xanthogranuloma is a rare, chronic and progressive, non-Langerhans cell histiocytosis disease typically characterized by multiple, indurated, asymptomatic to pruritic, yellow-orange plaques or nodules that tend to ulcerate and are usually located in the periorbital area, trunk and/or extremities. Strong association with paraproteinemia and/or malignant lymphoproliferative disease has been reported.'),('158014','Rosaï-Dorfman disease','Disease','Rosaï-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia.'),('158019','Indeterminate cell histiocytosis','Disease','A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression).'),('158022','Progressive nodular histiocytosis','Disease','Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.'),('158025','Hereditary progressive mucinous histiocytosis','Disease','Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.'),('158029','Sea-blue histiocytosis','Disease','no definition available'),('158032','Hemophagocytic syndrome','Category','Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).'),('158038','Primary hemophagocytic lymphohistiocytosis','Clinical group','no definition available'),('158041','Secondary hemophagocytic lymphohistiocytosis','Category','no definition available'),('158048','Hemophagocytic syndrome associated with an infection','Particular clinical situation in a disease or syndrome','no definition available'),('158057','Acquired hemophagocytic lymphohistiocytosis associated with malignant disease','Particular clinical situation in a disease or syndrome','A rare, secondary hemophagocytic lymphohistiocytosis characterized by occurring as either initial presentation of a malignant disease or at any stage during chemotherapy. The common associated malignancies are lukemias, B-cell, T-cell or NK-cell lymphomas, and Hodgkin lymphoma. Typical clinical manifestation includes fever, hepatosplenomegaly and cytopenias, combined with specific laboratory findings.'),('158061','Macrophage activation syndrome','Clinical syndrome','no definition available'),('1581','Non-distal monosomy 10q','Malformation syndrome','Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.'),('158124','Genetic dementia','Category','no definition available'),('158266','Huntington disease-like syndrome','Clinical group','no definition available'),('158300','Rare genetic hematologic disease','Category','no definition available'),('158661','Suprabasal epidermolysis bullosa simplex','Clinical group','Suprabasal epidermolysis bullosa simplex is a subtype of inherited epidermolysis bullosa simplex and comprises a group of clinically and genetically heterogeneous conditions, with phenotype ranging from mild to severe, principally characterized by infantile, localized or generalized, superficial skin erosions due to blistering within the middle or upper epidermal layers. Features of ectodermal dysplasia are frequently associated and depending on the specific disorder, variable extracutaneous involvement may be observed.'),('158665','Basal epidermolysis bullosa simplex','Clinical group','no definition available'),('158668','Epidermolysis bullosa simplex due to plakophilin deficiency','Disease','Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.'),('158673','Acral dystrophic epidermolysis bullosa','Disease','A very rare dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.'),('158676','Dominant dystrophic epidermolysis bullosa, nails only','Disease','Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails.'),('158681','Epidermolysis bullosa simplex with circinate migratory erythema','Disease','Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.'),('158684','Epidermolysis bullosa simplex with pyloric atresia','Disease','Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.'),('158687','Lethal acantholytic epidermolysis bullosa','Disease','Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.'),('1587','Monosomy 13q14','Malformation syndrome','Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.'),('158766','Typical urticaria pigmentosa','Clinical subtype','no definition available'),('158769','Plaque-form urticaria pigmentosa','Clinical subtype','no definition available'),('158772','Nodular urticaria pigmentosa','Clinical subtype','no definition available'),('158775','Smoldering systemic mastocytosis','Disease','A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.'),('158778','Isolated bone marrow mastocytosis','Disease','no definition available'),('158793','OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia','Clinical subtype','no definition available'),('158796','OBSOLETE: Classic mast cell leukemia','Disease','no definition available'),('158799','OBSOLETE: Aleukemic mast cell leukemia','Disease','no definition available'),('159','Carnitine-acylcarnitine translocase deficiency','Disease','Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.'),('1590','Distal monosomy 13q','Malformation syndrome','Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.'),('1596','Distal monosomy 15q','Malformation syndrome','Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.'),('1597','Distal monosomy 17q','Malformation syndrome','A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.'),('1598','Monosomy 18p','Disease','Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.'),('16','Blue cone monochromatism','Disease','Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).'),('160','Castleman disease','Disease','Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form (see these terms). The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.'),('1600','Monosomy 18q','Malformation syndrome','Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.'),('160148','Cap polyposis','Disease','A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.'),('1606','1p36 deletion syndrome','Malformation syndrome','1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.'),('1611','OBSOLETE: Deletion 20p','Malformation syndrome','no definition available'),('1617','2q24 microdeletion syndrome','Malformation syndrome','2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.'),('162','Cataract-glaucoma syndrome','Malformation syndrome','Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.'),('1620','Distal monosomy 3p','Malformation syndrome','Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.'),('1621','3q13 microdeletion syndrome','Malformation syndrome','3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.'),('1625','OBSOLETE: Deletion 4q','Malformation syndrome','no definition available'),('162516','Isolated congenital nasal pyriform aperture stenosis','Malformation syndrome','no definition available'),('162521','OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly','Malformation syndrome','no definition available'),('162526','Isolated congenital auditory ossicle malformation','Morphological anomaly','Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.'),('1627','Deletion 5q35','Malformation syndrome','Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.'),('163','Hereditary hyperferritinemia-cataract syndrome','Disease','Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.'),('163209','Non-syndromic cerebral malformation due to abnormal neuronal migration','Category','no definition available'),('163525','Subacute cutaneous lupus erythematosus','Disease','A form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. This disorder is associated with anti-Ro/SSA antibodies and can be drug-induced.'),('163528','OBSOLETE: Acute cutaneous lupus erythematosus','Clinical group','no definition available'),('163531','Chronic cutaneous lupus erythematosus','Clinical group','A form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.'),('163582','Rare bacterial infectious disease','Category','no definition available'),('163585','Rare viral disease','Category','no definition available'),('163588','Rare parasitic disease','Category','no definition available'),('163591','Rare mycosis','Category','no definition available'),('163596','Hb Bart`s hydrops fetalis','Clinical subtype','A rare, severe form of alpha-thalassemia that is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.'),('1636','Distal monosomy 7q36','Malformation syndrome','Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.'),('163631','Bile acid synthesis defect with cholestasis and malabsorption','Category','no definition available'),('163634','Maffucci syndrome','Disease','Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.'),('163637','Rare disorder related with pregnancy, childbirth and puerperium','Category','no definition available'),('163649','Spondyloepiphyseal dysplasia, Nishimura type','Disease','Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.'),('163654','Spondyloepiphyseal dysplasia, Cantu type','Disease','Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).'),('163662','Spondyloepiphyseal dysplasia, Reardon type','Disease','Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.'),('163665','Spondyloepiphyseal dysplasia tarda, Kohn type','Disease','Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.'),('163668','Spondyloepiphyseal dysplasia, MacDermot type','Malformation syndrome','Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.'),('163673','Spondyloepiphyseal dysplasia, Byers type','Disease','no definition available'),('163678','OBSOLETE: Unclassified spondylometaphyseal dysplasia','Disease','no definition available'),('163681','Cortical dysplasia-focal epilepsy syndrome','Disease','A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.'),('163684','Leukoencephalopathy-dystonia-motor neuropathy syndrome','Disease','Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.'),('163690','Hypotonia-cystinuria syndrome','Disease','A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.'),('163693','2p21 microdeletion syndrome','Disease','The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.'),('163696','Action myoclonus-renal failure syndrome','Disease','A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.'),('163699','Alveolar soft tissue sarcoma','Disease','A rare soft tissue sarcoma characterized by a slowly growing, painless space-occupying lesion, composed of large, uniform, epitheloid cells arranged in solid nests and/or alveolar structures, separated by thin, sinusoidal vessels. The tumor mostly affects adolescents and young adults. Early metastasis, most commonly to the lung, bones, and brain, is a characteristic feature and relevant prognostic factor, together with age at presentation and tumor size, while histological features have no prognostic significance.'),('163703','Febrile infection-related epilepsy syndrome','Disease','Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.'),('163708','Cryptogenic late-onset epileptic spasms','Disease','Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.'),('163717','Benign familial mesial temporal lobe epilepsy','Disease','Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.'),('163721','Rolandic epilepsy-speech dyspraxia syndrome','Disease','Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.'),('163727','Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer`s cramp syndrome','Disease','no definition available'),('163746','Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease','Disease','Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.'),('163892','Limbic encephalitis','Clinical group','no definition available'),('163895','Paraneoplastic limbic encephalitis','Clinical group','no definition available'),('163898','Classic paraneoplastic limbic encephalitis','Disease','Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.'),('163903','Limbic encephalitis associated with antibodies to cell membrane antigens','Category','no definition available'),('163908','Limbic encephalitis with LGI1 antibodies','Disease','Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.'),('163914','OBSOLETE: Limbic encephalitis with nCMAgs antibodies','Disease','no definition available'),('163918','Non-paraneoplastic limbic encephalitis','Category','no definition available'),('163921','Posttransplant acute limbic encephalitis','Particular clinical situation in a disease or syndrome','Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.'),('163924','Non-herpetic acute limbic encephalitis','Disease','Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.'),('163927','Pustulosis palmaris et plantaris','Disease','no definition available'),('163931','Acrodermatitis continua of Hallopeau','Disease','A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.'),('163934','Atopic keratoconjunctivitis','Disease','A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.'),('163937','X-linked intellectual disability, Najm type','Disease','Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.'),('163953','X-linked intellectual disability, Raymond type','Disease','no definition available'),('163956','X-linked intellectual disability, Nascimento type','Disease','X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.'),('163961','X-linked cerebral-cerebellar-coloboma syndrome','Disease','X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.'),('163966','X-linked dominant chondrodysplasia, Chassaing-Lacombe type','Disease','X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.'),('163971','X-linked intellectual disability, Cilliers type','Disease','X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).'),('163976','X-linked intellectual disability, Van Esch type','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorfism include upslanted palpebral fissures and prominent nasal bridge.'),('163979','X-linked intellectual disability-craniofacioskeletal syndrome','Disease','X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.'),('163982','X-linked intellectual disability-spastic quadriparesis syndrome','Disease','no definition available'),('163985','Hyperekplexia-epilepsy syndrome','Disease','A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsecuent decline, may be additionally associated.'),('163988','OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type','Malformation syndrome','no definition available'),('164','NON RARE IN EUROPE: Cerebral cavernous malformations','Disease','no definition available'),('164001','Rare odontal or periodontal disorder','Category','no definition available'),('164004','Middle ear anomaly','Category','no definition available'),('1642','Distal monosomy 9p','Malformation syndrome','Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.'),('1643','Xp22.3 microdeletion syndrome','Malformation syndrome','Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.'),('1646','Partial chromosome Y deletion','Malformation syndrome','Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.'),('1647','Oculocerebrocutaneous syndrome','Malformation syndrome','A rare neurologic disease typically characterized by the triad of eye, central nervous system and skin malformations, and often associated with an intellectual disability.'),('164726','Acute myeloid leukemia and myelodysplastic syndromes related to radiation','Disease','A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.'),('164736','Familial advanced sleep-phase syndrome','Disease','A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder.'),('1648','NON RARE IN EUROPE: Dementia with Lewy body','Disease','no definition available'),('164823','Rare acquired aplastic anemia','Category','no definition available'),('165','Neutral lipid storage disease','Clinical group','Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.'),('1651','OBSOLETE: Dennis-Cohen syndrome','Clinical group','no definition available'),('1652','Dent disease','Disease','Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.'),('1653','Dentin dysplasia','Disease','Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms).'),('1654','OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome','Malformation syndrome','no definition available'),('1655','Müllerian derivatives-lymphangiectasia-polydactyly syndrome','Malformation syndrome','Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.'),('1656','Dermatitis herpetiformis','Disease','A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.'),('165652','Rare genetic gastroenterological disease','Category','no definition available'),('165655','Genetic intestinal disease','Category','no definition available'),('165658','Genetic gastro-esophageal disease','Category','no definition available'),('165661','Genetic pancreatic disease','Category','no definition available'),('1657','Dermatoosteolysis, Kirghizian type','Malformation syndrome','Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.'),('165704','Non-syndromic urogenital tract malformation','Category','no definition available'),('165707','Syndromic urogenital tract malformation','Category','no definition available'),('165711','Rare abdominal surgical disease','Category','no definition available'),('1658','Absence of fingerprints-congenital milia syndrome','Disease','A rare syndrome syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.'),('165805','Familial mesial temporal lobe epilepsy with febrile seizures','Disease','A rare, genetic, familial partial epilepsy disease characterized by simple partial seizures, complex partial seizures and/or secondarily generalized seizures, originating from the inner aspect of the temporal lobe, associated with an antecedant history of febrile seizures, ocurring in various members of a family. Hippocampal abnormalities (e.g. hippocampal sclerosis) may also be associated.'),('1659','Dermatoleukodystrophy','Disease','A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.'),('165955','Wound myiasis','Disease','A rare cutaneous myiasis characterized by infestation of open wounds by dipterous fly larvae. Mucous membranes and body cavity openings can also be affected. The condition may be accompanied by fever, pain, and secondary infections and can lead to massive tissue destruction and even death. Predisposing factors for larval infestation are poor hygiene, advanced or very young age, alcoholism, diabetes, and vascular occlusive disease, among others.'),('165958','Cavitary myiasis','Disease','Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.'),('165961','OBSOLETE: Subcutaneous myiasis','Clinical group','no definition available'),('165985','Diazoxide-sensitive diffuse hyperinsulinism','Clinical group','no definition available'),('165988','Diazoxide-resistant diffuse hyperinsulinism','Clinical group','Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.'),('165991','Exercise-induced hyperinsulinism','Disease','Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.'),('165994','Pituitary resistance to thyroid hormone','Disease','no definition available'),('166','Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy','Category','no definition available'),('1660','Dermoodontodysplasia','Malformation syndrome','Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.'),('166002','Multiple epiphyseal dysplasia due to collagen 9 anomaly','Disease','Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.'),('166011','Multiple epiphyseal dysplasia, Beighton type','Disease','Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.'),('166016','Multiple epiphyseal dysplasia, Lowry type','Disease','Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.'),('166024','Multiple epiphyseal dysplasia, Al-Gazali type','Disease','Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.'),('166029','Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia','Disease','Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.'),('166032','Multiple epiphyseal dysplasia, with miniepiphyses','Disease','Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.'),('166035','Brachydactyly-short stature-retinitis pigmentosa syndrome','Malformation syndrome','Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.'),('166038','Metaphyseal chondrodysplasia, Kaitila type','Disease','Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.'),('166063','Pontocerebellar hypoplasia type 4','Malformation syndrome','Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.'),('166068','Pontocerebellar hypoplasia type 5','Malformation syndrome','Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.'),('166073','Pontocerebellar hypoplasia type 6','Malformation syndrome','Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.'),('166078','Von Willebrand disease type 1','Clinical subtype','Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).'),('166081','Von Willebrand disease type 2','Clinical subtype','Type 2 von Willebrand disease (type 2 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).'),('166084','Von Willebrand disease type 2A','Clinical subtype','Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.'),('166087','Von Willebrand disease type 2B','Clinical subtype','Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.'),('166090','Von Willebrand disease type 2M','Clinical subtype','Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.'),('166093','Von Willebrand disease type 2N','Clinical subtype','Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD (see this term) characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).'),('166096','Von Willebrand disease type 3','Clinical subtype','Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD (see this term) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).'),('1661','X-linked corneal dermoid','Disease','X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.'),('166100','Autosomal dominant otospondylomegaepiphyseal dysplasia','Malformation syndrome','Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.'),('166105','FASTKD2-related infantile mitochondrial encephalomyopathy','Disease','FASTKD2-related infantile mitochondrial encephalomyopathy is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase acitivity in skeletal muscle biopsy.'),('166108','Intellectual disability, Birk-Barel type','Disease','Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.'),('166113','Bazex syndrome','Disease','Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.'),('166119','Isolated osteopoikilosis','Disease','no definition available'),('1662','Restrictive dermopathy','Disease','A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.'),('166260','Dentinogenesis imperfecta type 2','Clinical subtype','Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.'),('166265','Dentinogenesis imperfecta type 3','Clinical subtype','Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).'),('166272','Odontochondrodysplasia','Malformation syndrome','Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.'),('166277','Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia','Malformation syndrome','Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.'),('166282','Familial sick sinus syndrome','Disease','Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.'),('166286','Porokeratotic eccrine ostial and dermal duct nevus','Disease','no definition available'),('166291','Dirofilariasis','Disease','Dirofilariasis is a form of filariasis (see this term), caused by the filarial nematode of the genus Dirofilaria (including Dirofilaria repens, Dirofilaria immitis), which is transmitted by mosquitoes. The disease is characterized by the presence of subcutaneous nodules (or a conjunctival form that develops slowly and that can be painless to tender), edema and erythema at the site of parasite localization, a feeling of `crawling` under the skin, and the ``Calabar`` swelling (similar to thatin loiasis (see this term). The latter may last a few days and recurrences are possible. Common localizations of dirofilaria are head and neck, most commonly in the periorbital region, the limbs and trunk.'),('166295','Benign non-familial infantile seizures','Clinical group','no definition available'),('166299','Benign partial epilepsy of infancy with complex partial seizures','Disease','Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.'),('166302','Benign partial epilepsy with secondarily generalized seizures in infancy','Disease','Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.'),('166305','Benign infantile seizures associated with mild gastroenteritis','Disease','Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.'),('166308','Benign infantile focal epilepsy with midline spikes and waves during sleep','Disease','Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.'),('166311','Benign partial infantile seizures','Clinical group','no definition available'),('1664','OBSOLETE: Embryonary disorganization syndrome','Malformation syndrome','no definition available'),('166409','Photosensitive epilepsy','Disease','A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes.'),('166412','Hot water reflex epilepsy','Disease','Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.'),('166415','Audiogenic seizures','Disease','A rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).'),('166418','Eating reflex epilepsy','Disease','A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies.'),('166421','Orgasm-induced seizures','Disease','Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.'),('166424','Thinking seizures','Disease','Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g. Sudoku puzzle), playing thinking games (e.g. Rubik`s cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.'),('166427','Startle epilepsy','Disease','Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.'),('166430','Micturation-induced seizures','Disease','Micturation-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.'),('166433','Reading seizures','Disease','A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.'),('166457','OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis','Clinical group','no definition available'),('166463','Epilepsy syndrome','Category','no definition available'),('166466','Neurocutaneous syndrome with epilepsy','Category','no definition available'),('166469','Chromosomal anomaly with epilepsy as a major feature','Category','no definition available'),('166472','Monogenic disease with epilepsy','Category','no definition available'),('166475','Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes','Category','no definition available'),('166478','Cerebral malformation with epilepsy','Category','no definition available'),('166481','Metabolic diseases with epilepsy','Category','no definition available'),('166484','Inflammatory and autoimmune disease with epilepsy','Category','no definition available'),('166487','Cerebral diseases of vascular origin with epilepsy','Category','no definition available'),('166490','Infectious disease with epilepsy','Category','no definition available'),('1665','Sporadic fetal brain disruption sequence','Malformation syndrome','Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.'),('1666','Dextrocardia','Morphological anomaly','A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricles, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.'),('1667','Wolcott-Rallison syndrome','Disease','Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.'),('166775','Rare hemorrhagic disorder due to an acquired coagulation factor defect','Category','no definition available'),('167','Chédiak-Higashi syndrome','Disease','Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.'),('1670','Chronic diarrhea with villous atrophy','Disease','Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.'),('1671','Split cord malformation type I','Clinical subtype','A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.'),('1672','Diencephalic syndrome','Disease','Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.'),('1674','Digitorenocerebral syndrome','Malformation syndrome','no definition available'),('1675','Dihydropyrimidine dehydrogenase deficiency','Disease','no definition available'),('1676','Idiopathic pulmonary artery dilatation','Disease','Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.'),('167635','Scleromyxedema','Disease','no definition available'),('1677','Familial idiopathic dilatation of the right atrium','Morphological anomaly','A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.'),('167714','Unclassified acute myeloid leukemia','Category','no definition available'),('167759','Hereditary dentin defect','Category','The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.'),('167762','Rare disease with dentinogenesis imperfecta','Category','no definition available'),('1678','Dincsoy-Salih-Patel syndrome','Malformation syndrome','no definition available'),('167848','Rare cardiomyopathy','Category','no definition available'),('1679','Diphtheria','Disease','A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.'),('168','Loose anagen syndrome','Disease','Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.'),('1680','OBSOLETE: Spastic diplegia, infantile type','Disease','no definition available'),('1681','Diprosopus','Morphological anomaly','Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.'),('168194','Rare cardiac tumor','Category','no definition available'),('1682','Arterial dissection-lentiginosis syndrome','Malformation syndrome','A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).'),('1683','Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome','Malformation syndrome','no definition available'),('168443','Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome','Disease','Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.'),('168448','Spondyloepimetaphyseal dysplasia, Bieganski type','Disease','no definition available'),('168451','Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome','Disease','Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.'),('168454','Spondyloepimetaphyseal dysplasia, Geneviève type','Disease','Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.'),('168486','Congenital neuronal ceroid lipofuscinosis','Disease','Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.'),('168491','Late infantile neuronal ceroid lipofuscinosis','Disease','Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.'),('1685','Distomatosis','Disease','A group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.'),('168544','Spondylometaphyseal dysplasia, Golden type','Disease','Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.'),('168549','Axial spondylometaphyseal dysplasia','Disease','Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.'),('168552','Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome','Disease','Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.'),('168555','Spondylometaphyseal dysplasia, A4 type','Disease','Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.'),('168558','46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency','Disease','46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.'),('168563','46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome','Malformation syndrome','46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.'),('168566','Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3','Disease','Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.'),('168569','H syndrome','Malformation syndrome','A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.'),('168572','Native American myopathy','Malformation syndrome','Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.'),('168577','Hereditary cryohydrocytosis with reduced stomatin','Disease','Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.'),('168583','Hereditary North American Indian childhood cirrhosis','Clinical subtype','Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.'),('168588','Hyperandrogenism due to cortisone reductase deficiency','Malformation syndrome','A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.'),('168593','Sudden infant death-dysgenesis of the testes syndrome','Malformation syndrome','Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.'),('168598','Brain demyelination due to methionine adenosyltransferase deficiency','Disease','Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.'),('1686','Cardiac diverticulum','Morphological anomaly','Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.'),('168601','Congenital enteropathy due to enteropeptidase deficiency','Disease','Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.'),('168606','Seborrhea-like dermatitis with psoriasiform elements','Disease','Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.'),('168609','Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure','Etiological subtype','no definition available'),('168612','Congenital deficiency in alpha-fetoprotein','Biological anomaly','Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.'),('168615','Hereditary persistence of alpha-fetoprotein','Biological anomaly','Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy'),('168621','Dysplasia of head of femur, Meyer type','Disease','Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.'),('168624','Familial scaphocephaly syndrome, McGillivray type','Malformation syndrome','Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.'),('168629','Autosomal thrombocytopenia with normal platelets','Etiological subtype','no definition available'),('168632','Generalized basaloid follicular hamartoma syndrome','Disease','Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.'),('168778','Rare pervasive developmental disorder','Category','no definition available'),('168782','Childhood disintegrative disorder','Disease','Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.'),('168796','Heart-hand syndrome, Slovenian type','Malformation syndrome','Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.'),('168803','Primary peritoneal tumor','Category','no definition available'),('168807','Primary malignant peritoneal tumor','Category','no definition available'),('168811','Malignant peritoneal mesothelioma','Disease','Malignant peritoneal mesothelioma is a primary peritoneal malignancy occurring in the lining cells (mesothelium) of the peritoneal cavity.'),('168816','Peritoneal cystic mesothelioma','Disease','Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.'),('168829','Primary peritoneal carcinoma','Disease','Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma (see this term).'),('168940','Chronic eosinophilic leukemia','Disease','no definition available'),('168943','Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1','Category','no definition available'),('168947','Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement','Disease','A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.'),('168950','Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement','Disease','A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.'),('168953','Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement','Disease','A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, splenomegaly and/or hepatomegaly. Extranodal involvement may include the tonsils, lungs and breasts.'),('168956','Hypereosinophilic syndrome','Clinical group','Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.'),('168960','Refractory anemia with excess blasts in transformation','Disease','no definition available'),('168966','Composite lymphoma','Disease','no definition available'),('168972','Kahrizi syndrome','Disease','no definition available'),('168984','CLAPO syndrome','Malformation syndrome','CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).'),('168999','Malignant melanoma of the mucosa','Disease','A rare, aggressive, neoplastic disease characterized by the presence of a melanocyte tumor that develops in any mucosal membrane. Clinical manifestations vary depending on the site of occurrence.'),('169','Ringed hair disease','Disease','Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.'),('169079','Cernunnos-XLF deficiency','Disease','Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.'),('169082','Combined immunodeficiency due to CD3gamma deficiency','Disease','Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.'),('169085','Susceptibility to respiratory infections associated with CD8alpha chain mutation','Disease','Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.'),('169090','Combined immunodeficiency due to CRAC channel dysfunction','Disease','Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.'),('169095','Severe combined immunodeficiency due to FOXN1 deficiency','Disease','A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.'),('169100','Immunodeficiency due to CD25 deficiency','Disease','Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.'),('169105','Good syndrome','Disease','Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.'),('169110','Immunoglobulin heavy chain deficiency','Disease','no definition available'),('169139','Transient hypogammaglobulinemia of infancy','Disease','no definition available'),('169142','Recurrent infection due to specific granule deficiency','Disease','no definition available'),('169147','Immunodeficiency due to a classical component pathway complement deficiency','Disease','Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.'),('169150','Immunodeficiency due to a late component of complement deficiency','Disease','Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.'),('169154','T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency','Disease','no definition available'),('169157','T-B+ severe combined immunodeficiency due to CD45 deficiency','Disease','no definition available'),('169160','T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta','Disease','no definition available'),('169163','Familial scaphocephaly syndrome','Category','no definition available'),('169186','Autosomal recessive centronuclear myopathy','Disease','A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.'),('169189','Autosomal dominant centronuclear myopathy','Disease','A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.'),('1692','Mosaic trisomy 1','Malformation syndrome','A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (campodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.'),('169346','DNA repair defect other than combined T-cell and B-cell immunodeficiencies','Category','no definition available'),('169349','Immuno-osseous dysplasia','Clinical group','no definition available'),('169355','Immunodeficiency syndrome with autoimmunity','Category','no definition available'),('169361','Immune dysregulation disease with immunodeficiency','Category','no definition available'),('169443','Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells','Category','no definition available'),('169446','OBSOLETE: Autosomal recessive hyper-IgE syndrome','Clinical group','no definition available'),('169464','Primary CD59 deficiency','Disease','Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).'),('169467','Recurrent Neisseria infections due to factor D deficiency','Disease','Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.'),('1695','Non-distal trisomy 10q','Malformation syndrome','Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.'),('169615','Idiopathic central precocious puberty','Etiological subtype','no definition available'),('169618','Secondary central precocious puberty','Etiological subtype','no definition available'),('169793','Severe hemophilia B','Clinical subtype','Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169796','Moderately severe hemophilia B','Clinical subtype','Moderately severe hemophilia B is a form of hemophilia B (see this term) characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169799','Mild hemophilia B','Clinical subtype','Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('1698','Mosaic trisomy 12','Malformation syndrome','Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.'),('169802','Severe hemophilia A','Clinical subtype','Severe hemophilia A is a form of hemophilia A (see this term) characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169805','Moderately severe hemophilia A','Clinical subtype','Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169808','Mild hemophilia A','Clinical subtype','Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.'),('169826','Congenital vitamin K-dependent coagulation factors deficiency','Category','no definition available'),('1699','Trisomy 12p','Malformation syndrome','A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.'),('17','Fatal infantile lactic acidosis with methylmalonic aciduria','Disease','Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.'),('170','Woolly hair','Disease','A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.'),('1702','Non-distal trisomy 13q','Malformation syndrome','Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.'),('1703','Mosaic trisomy 14','Malformation syndrome','Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.'),('1705','Distal trisomy 14q','Malformation syndrome','Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.'),('1706','Mosaic trisomy 15','Malformation syndrome','Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.'),('1707','Distal trisomy 15q','Etiological subtype','no definition available'),('1708','Mosaic trisomy 16','Malformation syndrome','Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.'),('171','Primary sclerosing cholangitis','Disease','Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.'),('1711','Mosaic trisomy 17','Malformation syndrome','Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.'),('171201','High isolated anorectal malformation','Morphological anomaly','High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.'),('171208','Intermediate isolated anorectal malformation','Morphological anomaly','Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.'),('171215','Low isolated anorectal malformation','Morphological anomaly','Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.'),('171220','Rectal duplication','Morphological anomaly','Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.'),('1713','17p11.2 microduplication syndrome','Malformation syndrome','17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.'),('171430','Severe congenital nemaline myopathy','Disease','Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.'),('171433','Intermediate nemaline myopathy','Disease','Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.'),('171436','Typical nemaline myopathy','Disease','Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.'),('171439','Childhood-onset nemaline myopathy','Disease','Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.'),('171442','Adult-onset nemaline myopathy','Disease','A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.'),('171445','Muscle filaminopathy','Disease','Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.'),('1715','Trisomy 18p','Malformation syndrome','Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.'),('1716','Distal trisomy 18q','Malformation syndrome','Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.'),('171607','X-linked spastic paraplegia type 34','Disease','X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.'),('171612','Autosomal dominant spastic paraplegia type 37','Disease','A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.'),('171617','Autosomal dominant spastic paraplegia type 38','Disease','A complex hereditary spastic paraplegia characterized by mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported.'),('171622','Autosomal recessive spastic paraplegia type 32','Disease','Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.'),('171629','Autosomal recessive spastic paraplegia type 35','Disease','Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.'),('171673','Limbal stem cell deficiency','Disease','no definition available'),('171676','Periventricular leukomalacia','Particular clinical situation in a disease or syndrome','A rare neurologic condition characterized by focal periventricular necrosis and diffuse cerebral white matter injury. It most commonly occurs in premature infants. Signs of brain damage typically begin to show in early childhood. Long-term outcomes depend on the extent of the white matter injury and include cognitive delay, motor delay, vision and hearing impairment, and cerebral palsy.'),('171680','Lissencephaly due to TUBA1A mutation','Malformation syndrome','Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.'),('171684','Idiopathic bilateral vestibulopathy','Disease','Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.'),('171690','Metabolic myopathy due to lactate transporter defect','Disease','Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.'),('171695','Parkinsonian-pyramidal syndrome','Disease','Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).'),('1717','Distal trisomy 19q','Malformation syndrome','Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.'),('171700','Diffuse panbronchiolitis','Disease','Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis'),('171703','Microcephaly-polymicrogyria-corpus callosum agenesis syndrome','Malformation syndrome','Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.'),('171706','Short stature-delayed bone age due to thyroid hormone metabolism deficiency','Disease','Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.'),('171709','Male infertility due to globozoospermia','Clinical subtype','Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.'),('171714','Amish infantile epilepsy syndrome','Disease','no definition available'),('171719','Cutis laxa-Marfanoid syndrome','Malformation syndrome','A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.'),('171723','White sponge nevus','Disease','White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.'),('171829','6q16 microdeletion syndrome','Disease','Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.'),('171836','Amelogenesis imperfecta-gingival hyperplasia syndrome','Disease','no definition available'),('171839','Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome','Malformation syndrome','Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.'),('171844','Blindness-scoliosis-arachnodactyly syndrome','Malformation syndrome','This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.'),('171848','Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome','Disease','Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.'),('171851','MEDNIK syndrome','Disease','MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).'),('171860','Intellectual disability-cataracts-kyphosis syndrome','Disease','This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.'),('171863','Autosomal dominant spastic paraplegia type 42','Disease','A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.'),('171866','Spondyloepimetaphyseal dysplasia, aggrecan type','Disease','Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.'),('171871','Renal pseudohypoaldosteronism type 1','Clinical subtype','Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.'),('171876','Generalized pseudohypoaldosteronism type 1','Clinical subtype','Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.'),('171881','Cap myopathy','Disease','Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.'),('171886','Cylindrical spirals myopathy','Disease','Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.'),('171889','Myopathy with hexagonally cross-linked tubular arrays','Disease','Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.'),('171895','Myeloid hemopathy','Category','no definition available'),('171898','Lymphoid hemopathy','Category','no definition available'),('171901','Primary cutaneous T-cell lymphoma','Category','no definition available'),('171915','B-cell non-Hodgkin lymphoma','Category','no definition available'),('171918','T-cell non-Hodgkin lymphoma','Category','no definition available'),('171929','Trisomy 10p','Malformation syndrome','Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.'),('172','Progressive familial intrahepatic cholestasis','Disease','Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.'),('1723','Mosaic trisomy 2','Malformation syndrome','Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.'),('1724','Mosaic trisomy 20','Malformation syndrome','Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.'),('1727','22q11.2 microduplication syndrome','Malformation syndrome','The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.'),('172973','OBSOLETE: Congenital myopathy with protein accumulation','Category','no definition available'),('172976','Congenital myopathy with cores','Clinical group','no definition available'),('172979','OBSOLETE: Congenital myopathy with central nuclei','Category','no definition available'),('172982','OBSOLETE: Congenital myopathy with fiber size variation','Category','no definition available'),('172985','OBSOLETE: Congenital myopathy with vacuoles','Category','no definition available'),('173','Cholera','Disease','Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.'),('1738','Trisomy 4p','Malformation syndrome','Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.'),('1739','OBSOLETE: Duplication 4q','Malformation syndrome','no definition available'),('174','Metaphyseal chondrodysplasia, Schmid type','Disease','Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.'),('1742','Trisomy 5p','Malformation syndrome','Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.'),('1745','Distal trisomy 6p','Malformation syndrome','Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.'),('174590','Congenital hypogonadotropic hypogonadism','Category','no definition available'),('1747','Mosaic trisomy 7','Malformation syndrome','Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.'),('175','Cartilage-hair hypoplasia','Disease','Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.'),('1752','Trisomy 8q','Malformation syndrome','A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.'),('1756','Caudal duplication','Malformation syndrome','Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.'),('1757','Fibular dimelia-diplopodia syndrome','Malformation syndrome','A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.'),('1759','Thoraco-abdominal enteric duplication','Malformation syndrome','Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.'),('176','Non-rhizomelic chondrodysplasia punctata','Clinical group','Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.'),('1762','Trisomy Xq28','Malformation syndrome','Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.'),('1764','Familial dysautonomia','Disease','A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.'),('1765','Dyschondrosteosis-nephritis syndrome','Malformation syndrome','Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.'),('1766','Dysequilibrium syndrome','Disease','Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.'),('1767','Familial progressive vestibulocochlear dysfunction','Disease','no definition available'),('1768','Familial caudal dysgenesis','Malformation syndrome','Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.'),('177','Rhizomelic chondrodysplasia punctata','Disease','Rhizomelic chondrodysplasia is a form chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is calcifications near joints at birth.'),('1770','XY type gonadal dysgenesis-associated anomalies syndrome','Malformation syndrome','Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a `squashed down` appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included `punched out scalp defects` and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.'),('177101','Rare adult hypothyroidism','Category','no definition available'),('177107','Syndromic hypothyroidism','Category','no definition available'),('1772','45,X/46,XY mixed gonadal dysgenesis','Malformation syndrome','45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.'),('1773','Sacrococcygeal dysgenesis association','Malformation syndrome','no definition available'),('1775','Dyskeratosis congenita','Disease','A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.'),('1777','Temtamy syndrome','Malformation syndrome','A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.'),('1778','Facial dysmorphism-shawl scrotum-joint laxity syndrome','Malformation syndrome','Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.'),('1779','Dysmorphism-cleft palate-loose skin syndrome','Malformation syndrome','Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.'),('177901','Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1','Etiological subtype','no definition available'),('177904','Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2','Etiological subtype','no definition available'),('177907','Prader-Willi syndrome due to translocation','Etiological subtype','no definition available'),('177910','Prader-Willi syndrome due to imprinting mutation','Etiological subtype','no definition available'),('177926','Symptomatic form of hemophilia A in female carriers','Clinical subtype','Symptomatic hemophilia A in female carriers is a form of hemophilia A (see this term) that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.'),('177929','Symptomatic form of hemophilia B in female carriers','Clinical subtype','Symptomatic hemophilia B in female carriers is a form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.'),('178','Chordoma','Disease','Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.'),('1780','Thakker-Donnai syndrome','Malformation syndrome','Thakker-Donnai syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.'),('178025','Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations','Category','no definition available'),('178029','Central diabetes insipidus','Disease','Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).'),('178040','Rare peripheral precocious puberty','Category','no definition available'),('178045','Transient congenital hypothyroidism','Clinical group','no definition available'),('178145','Moderate multiminicore disease with hand involvement','Clinical subtype','no definition available'),('178148','Antenatal multiminicore disease with arthrogryposis multiplex congenita','Clinical subtype','no definition available'),('1782','Dysosteosclerosis','Malformation syndrome','Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.'),('178303','8q22.1 microdeletion syndrome','Malformation syndrome','The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.'),('178307','Reticulate acropigmentation of Kitamura','Disease','A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.'),('178311','Isolated sternocostoclavicular hyperostosis','Disease','Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.'),('178315','Undifferentiated embryonal sarcoma of the liver','Disease','Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.'),('178320','Acute lung injury','Clinical syndrome','no definition available'),('178330','OBSOLETE: Heinz body anemia','Disease','no definition available'),('178333','Åland Islands eye disease','Disease','An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.'),('178338','UV-sensitive syndrome','Disease','A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.'),('178342','Inflammatory myofibroblastic tumor','Disease','Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.'),('178345','Aromatase excess syndrome','Disease','A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.'),('178355','Smith-McCort dysplasia','Disease','Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.'),('178364','Syndromic microphthalmia type 5','Malformation syndrome','Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.'),('178377','Osteosclerosis-developmental delay-craniosynostosis syndrome','Malformation syndrome','This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).'),('178382','Congenital vertical talus','Morphological anomaly','Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.'),('178389','Osteopetrosis-hypogammaglobulinemia syndrome','Disease','Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.'),('178396','Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation','Disease','Hemorrhagic disease due to alpha-1-antitrypsin Pittsburg mutation is a rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.'),('1784','Acrofrontofacionasal dysostosis','Malformation syndrome','A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.'),('178400','Distal myopathy with anterior tibial onset','Disease','Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.'),('178461','X-linked myopathy with postural muscle atrophy','Disease','X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.'),('178464','Hereditary myopathy with early respiratory failure','Disease','A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles.'),('178469','Autosomal dominant non-syndromic intellectual disability','Etiological subtype','no definition available'),('178475','Wound botulism','Etiological subtype','Wound botulism is a rare infectious form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs), produced after infection of wounds by Clostridium botulinum.'),('178478','Infant botulism','Clinical subtype','A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.'),('178481','Intestinal botulism','Clinical subtype','A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).'),('178487','Adult intestinal botulism','Clinical subtype','A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.'),('178493','Myopic macular degeneration','Disease','A rare, genetic macular disorder characterised by severe near-sightedness resulting from continual elongation of the eyeball. As the eyeball stretches the sclera and retina thin and the macula can tear, causing bleeding beneath the retina. It is a major cause of irreversible vision loss.'),('178503','Dursun syndrome','Malformation syndrome','no definition available'),('178506','Brain calcification, Rajab type','Disease','A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.'),('178509','Perry syndrome','Disease','A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.'),('178512','Folliculotropic mycosis fungoides','Disease','A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.'),('178517','Localized pagetoid reticulosis','Disease','A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity.'),('178522','Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma','Disease','A rare, primary cutaneous T-cell lymphoma characterized by solitary cutaneous nodule or only regional disease, typically occurring on the head and neck, and involving entire dermis. Sometimes, subcutis and adnexal structures are involved, as well. The infiltrate is nodular or diffuse, composed of small to medium sized pleomorphic lymphocytes and showing mild to moderate cytologic atypia. Neoplastic T-cells are mixed with B-cells, histiocytes, plasma cells and eosinophils.'),('178528','Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma','Disease','Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.'),('178533','Primary cutaneous gamma/delta-positive T-cell lymphoma','Disease','Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.'),('178536','Primary cutaneous marginal zone B-cell lymphoma','Disease','A rare, indolent primary cutaneous B-cell lymphoma characterized by multifocal, red to violaceous papules, plaques or nodules localized predominantly on the trunk and extremities. Histologically, these are dermis infiltrates consisting of small, marginal zone B cells, lymphoplasmacytic cells, and plasma cells. Marginal zone B cells express CD20, CD79a and Bcl-2, and are negative for CD5, CD10 and Bcl-6. Plasma cells are typically located at the periphery, and express CD138, CD79a, and monotypic light chains.'),('178540','Primary cutaneous follicle center lymphoma','Disease','A rare, indolent primary cutaneous B-cell lymphoma characterized by a solitary or grouped erythematous plaques or tumors, preferentially located on the head, neck or trunk region, and composed of centroblasts and centrocytes arranged in a follicular, diffuse, or mixed growth pattern. The lesions are smooth and typically do not ulcerate. The neoplastic cells express pan B cell markers and Bcl-6, and typically lack Bcl-2.'),('178544','Primary cutaneous diffuse large B-cell lymphoma, leg type','Disease','A rare, aggressive, primary cutaneous B-cell lymphoma characterized by rapidly progressive, red to bluish, often ulcerating, nodular tumors predominantly involving the lower legs. Histology shows sheets of centroblasts and immunoblasts that spare the epidermis, but infiltrate the dermis and subcutaneous tissues, and often disseminate extracutaneously. The neoplastic cells typically express CD20, CD79a, Bcl-2, MUM-1, and FOXP1, but are negative for CD10.'),('178548','Indolent primary cutaneous T-cell lymphoma','Clinical group','no definition available'),('178551','Aggressive primary cutaneous T-cell lymphoma','Clinical group','no definition available'),('178554','Aggressive primary cutaneous B-cell lymphoma','Clinical group','no definition available'),('178557','Indolent primary cutaneous B-cell lymphoma','Clinical group','no definition available'),('178563','Primary cutaneous B-cell lymphoma','Category','no definition available'),('178566','Mycosis fungoides and variants','Clinical group','A group of disorders including the most common forms of cutaneous T-cell lymphomas. The term Mycosis fungoides (MF) is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.'),('1786','Acrofacial dysostosis, Catania type','Malformation syndrome','A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow`s peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.'),('1787','Acrofacial dysostosis, Palagonia type','Malformation syndrome','A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.'),('1788','Acrofacial dysostosis, Rodríguez type','Malformation syndrome','A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.'),('1789','OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome','Malformation syndrome','no definition available'),('178996','Acquired neutropenia','Category','no definition available'),('179','Birdshot chorioretinopathy','Disease','Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.'),('1790','Hypomandibular faciocranial dysostosis','Malformation syndrome','Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.'),('179006','Primary immunodeficiency due to a defect in adaptive immunity','Category','no definition available'),('1791','Frontofacionasal dysplasia','Malformation syndrome','A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).'),('1792','Humerospinal dysostosis','Disease','no definition available'),('1794','Oculomaxillofacial dysostosis','Malformation syndrome','Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.'),('179490','Obesity due to congenital leptin resistance','Etiological subtype','no definition available'),('179494','Obesity due to leptin receptor gene deficiency','Etiological subtype','A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.'),('1795','Peripheral dysostosis','Malformation syndrome','Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.'),('1797','Autosomal dominant spondylocostal dysostosis','Malformation syndrome','A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.'),('1798','Dysostosis, Stanescu type','Malformation syndrome','Stanescu type dysostosis is a rare form of osteosclerosis.'),('1799','Familial developmental dysphasia','Clinical syndrome','Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.'),('18','Distal renal tubular acidosis','Disease','Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.'),('180','Choroideremia','Disease','Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.'),('1800','OBSOLETE: Craniofaciocervical osteoglyphic dysplasia','Malformation syndrome','no definition available'),('180062','Uterovaginal malformation','Category','no definition available'),('180065','Non-syndromic uterovaginal malformation','Category','no definition available'),('180068','Partial bilateral aplasia of the Müllerian ducts','Clinical group','no definition available'),('180071','Unilateral aplasia of the Müllerian ducts','Clinical group','no definition available'),('180074','True unicornuate uterus','Morphological anomaly','A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.'),('180079','Pseudounicornuate uterus','Morphological anomaly','A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.'),('180086','Didelphys uterus','Morphological anomaly','no definition available'),('1801','Kyphomelic dysplasia','Malformation syndrome','A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.'),('180106','Bicervical bicornuate uterus and blind hemivagina','Clinical subtype','no definition available'),('180111','Bicervical bicornuate uterus with patent cervix and vagina','Clinical subtype','no definition available'),('180114','Unicervical bicornuate uterus','Morphological anomaly','no definition available'),('180118','NON RARE IN EUROPE: Cordiform uterus','Morphological anomaly','no definition available'),('180122','Septate uterus','Clinical group','no definition available'),('180126','Complete septate uterus','Morphological anomaly','Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.'),('180129','Partial septate uterus','Morphological anomaly','Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.'),('180134','Bicornuate uterus','Clinical group','no definition available'),('180139','Uterine hypoplasia','Morphological anomaly','A rare congenital urogenital tract malformation characterized by a small uterus of regular shape (simple uterine hypoplasia), an elongated uterus with normal fundus (elongated uterine hypoplasia), or an abnormally shaped uterus (malformative uterine hypoplasia). Symptoms may include primary amenorrhea, abdominal pain, and infertility.'),('180142','Absence of uterine body','Morphological anomaly','A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.'),('180145','Uterine cervical aplasia and agenesis','Morphological anomaly','A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.'),('180148','Syndromic uterovaginal malformation','Category','no definition available'),('180151','Rare vaginal malformation','Category','no definition available'),('180154','Septate vagina','Morphological anomaly','no definition available'),('180157','Longitudinal vaginal septum','Clinical subtype','no definition available'),('180160','Transverse vaginal septum','Clinical subtype','no definition available'),('180163','Rare breast malformation','Category','no definition available'),('180170','Excess breast volume or number','Category','no definition available'),('180173','Deficient breast volume or number','Category','no definition available'),('180176','Familial juvenile hypertrophy of the breast','Morphological anomaly','A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.'),('180182','Supernumerary breasts','Morphological anomaly','A rare breast malformation characterized by the presence of accessory breasts with a complete ductal system, areola, and nipple in addition to two normal breasts. The accessory breast tissue mostly lies along the milk lines. It is often not recognized until puberty, when it begins to respond to regular hormonal fluctuations, and may develop the same changes as normal breasts throughout life.'),('180188','Isolated congenital breast hypoplasia/aplasia','Morphological anomaly','A rare breast malformation characterized by congenital absence of breast and nipple (amastia), or nipple or mammary gland (athelia or amazia, respectively). It can be unilateral or bilateral and may occur as an isolated malformation or be associated with a syndrome or cluster of other anomalies.'),('180193','Syndromic breast hypoplasia/aplasia','Category','no definition available'),('180199','Rare non-malformative gynecologic or obstetric disease','Category','no definition available'),('1802','Ghosal hematodiaphyseal dysplasia','Malformation syndrome','Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.'),('180202','Rare non-malformative breast disease','Category','no definition available'),('180205','Rare non-malformative uterovaginal or vulvovaginal disease','Category','no definition available'),('180208','Anomaly of puberty or/and menstrual cycle','Category','no definition available'),('180220','Rare uterine adnexal tumor','Category','no definition available'),('180226','Embryonal carcinoma','Disease','no definition available'),('180229','Polyembryoma','Disease','no definition available'),('180234','Mixed germ cell tumor','Disease','no definition available'),('180237','Benign tumor of fallopian tubes','Disease','no definition available'),('180242','Malignant tumor of fallopian tubes','Disease','no definition available'),('180247','Vaginal carcinoma','Disease','no definition available'),('180250','Rare breast tumor','Category','no definition available'),('180253','Rare benign breast tumor','Category','no definition available'),('180257','Rare malignant breast tumor','Category','no definition available'),('180261','Phyllodes tumor of the breast','Disease','Phyllode tumor of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumors, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin.'),('180267','Giant adenofibroma of the breast','Disease','Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.'),('180275','Paget disease of the nipple','Disease','Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.'),('180284','NON RARE IN EUROPE: Benign ductal tumor of breast','Disease','no definition available'),('1803','Thoracomelic dysplasia','Disease','Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.'),('180303','Rare non-malformative uterine adnexal disease','Category','no definition available'),('180312','Rare vulvovaginal tumor','Category','no definition available'),('1804','Dyssegmental dysplasia-glaucoma syndrome','Malformation syndrome','no definition available'),('1806','Ectodermal dysplasia-blindness syndrome','Malformation syndrome','Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.'),('1807','Focal facial dermal dysplasia type III','Clinical subtype','Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.'),('180766','Malformative syndrome with dentinogenesis imperfecta','Category','no definition available'),('180772','Rare disease with autism','Category','no definition available'),('180776','Non-syndromic diaphragmatic or thoracic malformation','Category','no definition available'),('180779','Syndromic diaphragmatic or thoracic malformation','Category','no definition available'),('1808','Hidrotic ectodermal dysplasia, Christianson-Fourie type','Malformation syndrome','Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.'),('180821','Rare gastroesophageal tumor','Category','no definition available'),('180824','Rare tumor of pancreas','Category','no definition available'),('1809','Hidrotic ectodermal dysplasia, Halal type','Malformation syndrome','Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.'),('181','X-linked hypohidrotic ectodermal dysplasia','Etiological subtype','no definition available'),('1810','Autosomal dominant hypohidrotic ectodermal dysplasia','Etiological subtype','no definition available'),('1811','Odontomicronychial dysplasia','Malformation syndrome','Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.'),('1812','Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome','Malformation syndrome','Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.'),('181368','Rare insulin-resistance syndrome','Category','no definition available'),('181371','Rare diabetes mellitus type 1','Category','no definition available'),('181376','Rare diabetes mellitus type 2','Category','no definition available'),('181381','Other rare diabetes mellitus','Category','no definition available'),('181384','Rare hypothalamic or pituitary disease','Category','no definition available'),('181387','Rare disorder with hypogonadotropic hypogonadism','Category','no definition available'),('181390','Hypogonadotropic hypogonadism associated with other endocrinopathies','Category','no definition available'),('181393','Growth hormone insensitivity syndrome','Category','Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency (see these terms).'),('181396','Rare hypothyroidism','Category','no definition available'),('181399','Rare hyperthyroidism','Category','no definition available'),('181402','Syndrome with hypoparathyroidism','Category','no definition available'),('181405','Rare hypoparathyroidism','Category','no definition available'),('181408','Rare hyperparathyroidism','Category','no definition available'),('181412','Adrenogenital syndrome','Category','no definition available'),('181415','Rare primary hyperaldosteronism','Category','no definition available'),('181419','Rare hypoaldosteronism','Category','no definition available'),('181422','Rare hyperlipidemia','Category','no definition available'),('181425','OBSOLETE: Rare major hypertriglyceridemia','Clinical group','no definition available'),('181428','Hyperalphalipoproteinemia','Clinical group','no definition available'),('181431','Rare hypolipidemia','Category','no definition available'),('181437','Rare syndromic dyslipidemia','Category','no definition available'),('181441','Rare disorder with hypergonadotropic hypogonadism','Category','no definition available'),('1816','Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome','Malformation syndrome','Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.'),('1818','Ectodermal dysplasia, trichoodontoonychial type','Malformation syndrome','Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.'),('1819','OBSOLETE: Epimetaphyseal skeletal dysplasia','Malformation syndrome','no definition available'),('182','Chromomycosis','Disease','Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.'),('182040','Aplastic anemia','Category','no definition available'),('182043','Rare constitutional hemolytic anemia','Category','no definition available'),('182047','Rare acquired hemolytic anemia','Category','no definition available'),('182050','MYH9-related disease','Disease','MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.'),('182054','Rare thrombotic disease of hematologic origin','Category','no definition available'),('182058','Primary orthostatic hypotension','Clinical group','no definition available'),('182061','Cerebellar malformation','Category','no definition available'),('182064','Rare neuroinflammatory or neuroimmunological disease','Category','no definition available'),('182067','Glial tumor','Clinical group','no definition available'),('182070','Rare neurodegenerative disease','Category','no definition available'),('182073','Syndromic neurometabolic disease with non-X-linked intellectual disability','Category','no definition available'),('182076','Syndromic neurometabolic disease with X-linked intellectual disability','Category','no definition available'),('182079','ARX-related epileptic encephalopathy','Clinical group','no definition available'),('182083','Channelopathy with epilepsy','Category','no definition available'),('182086','Acquired peripheral neuropathy','Category','no definition available'),('182090','Pulmonary arterial hypertension','Category','Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).'),('182095','Interstitial lung disease','Category','no definition available'),('182098','Pneumoconiosis','Clinical group','no definition available'),('182101','Idiopathic eosinophilic pneumonia','Clinical group','no definition available'),('182104','Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease','Category','no definition available'),('182108','Thoracic malformation','Category','no definition available'),('182111','Respiratory malformation','Category','no definition available'),('182114','Rare urogenital tumor','Category','no definition available'),('182117','Non-syndromic urogenital tract malformation of female','Category','no definition available'),('182121','Non-syndromic urogenital tract malformation of male','Category','no definition available'),('182124','Non-syndromic urogenital tract malformation of male and female','Category','no definition available'),('182127','Extragonadal germinoma','Disease','Extragonadal germinoma is a rare, malignant germ cell tumor that occur in the midline of the body as a result of abnormal germ cell migration during embryogenesis. Clinical manifestations are variable and depend on the location and size of the tumor. Central nervous system tumor might present with headache, visual disturbances, endocrine abnormalities, and signs of increased intracranial pressure. A mediastinal tumor commonly presents with chest pain, dyspnea, cough and fever. Abdominal mass with or without pain, backache and weight loss are common clinical presentations in retroperitoneal tumor.'),('182130','Tumor of endocrine glands','Category','no definition available'),('1822','Dysplasia epiphysealis hemimelica','Malformation syndrome','no definition available'),('182214','OBSOLETE: Rare inflammatory eye disease','Category','no definition available'),('182222','Rare systemic disease','Category','no definition available'),('182228','Systemic autoimmune disease','Category','no definition available'),('182231','Rare rheumatologic disease','Category','no definition available'),('1823','OBSOLETE: Localized epiphyseal dysplasia','Malformation syndrome','no definition available'),('1824','Lowry-Wood syndrome','Disease','A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.'),('1825','Epiphyseal dysplasia-hearing loss-dysmorphism syndrome','Malformation syndrome','Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.'),('1826','Frontometaphyseal dysplasia','Disease','A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.'),('1827','Acromelic frontonasal dysplasia','Malformation syndrome','A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.'),('182734','Genetic urticaria','Clinical group','no definition available'),('183','Eosinophilic granulomatosis with polyangiitis','Disease','Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.'),('1830','Schimke immuno-osseous dysplasia','Disease','Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.'),('1831','De Hauwere syndrome','Malformation syndrome','no definition available'),('1832','Lethal osteosclerotic bone dysplasia','Malformation syndrome','A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.'),('1834','Axial mesodermal dysplasia spectrum','Malformation syndrome','Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.'),('183422','Polymalformative genetic syndrome with increased risk of developing cancer','Category','Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.'),('183426','Genetic epidermal disorder','Category','no definition available'),('183435','Inherited ichthyosis','Category','no definition available'),('183438','Genetic erythrokeratoderma','Category','no definition available'),('183441','Genetic acrokeratoderma','Category','no definition available'),('183444','Genetic porokeratosis','Category','no definition available'),('183447','Genetic epidermal appendage anomaly','Category','no definition available'),('183450','Genetic hair anomaly','Category','no definition available'),('183454','Genetic nail anomaly','Category','no definition available'),('183460','Genetic sebaceous gland anomaly','Category','no definition available'),('183463','Genetic pigmentation anomaly of the skin','Category','no definition available'),('183466','Genetic hyperpigmentation of the skin','Category','no definition available'),('183469','Genetic hypopigmentation of the skin','Category','no definition available'),('183472','Genetic dermis disorder','Category','no definition available'),('183478','Genetic skin vascular disorder','Category','no definition available'),('183481','Genetic mixed dermis disorder','Category','no definition available'),('183484','Genetic subcutaneous tissue disorder','Category','no definition available'),('183487','Genetic skin tumor','Category','no definition available'),('183490','Genetic photodermatosis','Category','no definition available'),('183494','Genetic immune deficiency with skin involvement','Category','no definition available'),('183497','Genetic neuromuscular disease','Category','no definition available'),('183500','Genetic neurodegenerative disease','Category','no definition available'),('183503','Genetic central nervous system and retinal vascular disease','Category','no definition available'),('183506','Genetic central nervous system malformation','Category','no definition available'),('183509','Rare genetic headache','Category','no definition available'),('183512','Rare genetic epilepsy','Category','no definition available'),('183515','Rare genetic medullar disease','Category','no definition available'),('183518','Rare hereditary ataxia','Category','no definition available'),('183521','Rare genetic movement disorder','Category','no definition available'),('183524','Rare genetic bone disease','Category','no definition available'),('183527','Genetic bone tumor','Category','no definition available'),('183530','Rare genetic developmental defect during embryogenesis','Category','no definition available'),('183533','Genetic multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('183536','Genetic congenital limb malformation','Category','no definition available'),('183539','Genetic renal or urinary tract malformation','Category','no definition available'),('183542','Genetic cranial malformation','Category','no definition available'),('183545','Genetic digestive tract malformation','Category','no definition available'),('183548','Genetic visceral malformation of the liver, biliary tract, pancreas or spleen','Category','no definition available'),('183554','Genetic respiratory or mediastinal malformation','Category','no definition available'),('183557','Genetic developmental defect of the eye','Category','no definition available'),('183570','Genetic malformation syndrome with short stature','Category','no definition available'),('183573','Genetic overgrowth/obesity syndrome','Category','no definition available'),('183576','Genetic branchial arch or oral-acral syndrome','Category','no definition available'),('183580','Genetic malformation syndrome with odontal and/or periodontal component','Category','no definition available'),('183583','Genetic head and neck malformation','Category','no definition available'),('183586','Genetic glomerular disease','Category','no definition available'),('183589','Genetic thrombotic microangiopathy','Category','no definition available'),('183592','Genetic renal tubular disease','Category','no definition available'),('183595','Genetic renal tumor','Category','no definition available'),('183598','OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease','Category','no definition available'),('1836','Mesomelic dysplasia, Kantaputra type','Malformation syndrome','Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.'),('183601','OBSOLETE: Rare genetic refraction anomaly','Category','no definition available'),('183604','OBSOLETE: Rare genetic glaucoma','Clinical group','no definition available'),('183607','Genetic lens and zonula anomaly','Category','no definition available'),('183616','Genetic neuro-ophthalmological disease','Category','no definition available'),('183619','Genetic eye tumor','Category','no definition available'),('183622','Genetic respiratory malformation','Category','no definition available'),('183625','Rare genetic diabetes mellitus','Category','no definition available'),('183628','Rare genetic hypothalamic or pituitary disease','Category','no definition available'),('183631','Rare genetic thyroid disease','Category','no definition available'),('183634','Rare genetic parathyroid disease and phosphocalcic metabolism disorder','Category','no definition available'),('183637','Rare genetic adrenal disease','Category','no definition available'),('183643','Genetic polyendocrinopathy','Category','no definition available'),('183651','Rare constitutional anemia','Category','no definition available'),('183654','Rare genetic coagulation disorder','Category','no definition available'),('183660','Severe combined immunodeficiency','Clinical group','Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.'),('183663','Hyper-IgM syndrome with susceptibility to opportunistic infections','Disease','Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation.'),('183666','Hyper-IgM syndrome without susceptibility to opportunistic infections','Disease','Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells.'),('183669','Agammaglobulinemia','Category','no definition available'),('183672','OBSOLETE: Common variable immunodeficiency due to TNFR deficiency','Etiological subtype','no definition available'),('183675','Recurrent infections associated with rare immunoglobulin isotypes deficiency','Disease','Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.'),('183678','Hermansky-Pudlak syndrome with neutropenia','Clinical subtype','Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.'),('183681','Functional neutrophil defect','Category','no definition available'),('1837','Ulna metaphyseal dysplasia syndrome','Disease','Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.'),('183707','Neutrophil immunodeficiency syndrome','Disease','Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.'),('183710','Genetic susceptibility to infections due to particular pathogens','Category','no definition available'),('183713','Bacterial susceptibility due to TLR signaling pathway deficiency','Disease','Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.'),('183716','OBSOLETE: Other complex syndrome of primary immunodeficiency','Category','no definition available'),('183731','Rare genetic gynecological and obstetrical diseases','Category','no definition available'),('183734','Genetic gynecological tumor','Category','no definition available'),('183757','Rare genetic intellectual disability','Category','no definition available'),('183763','Rare genetic syndromic intellectual disability','Category','no definition available'),('183770','Rare genetic immune disease','Category','no definition available'),('1838','Metaphyseal dysplasia without hypotrichosis','Disease','no definition available'),('1839','Hereditary mucoepithelial dysplasia','Malformation syndrome','A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.'),('184','Cherubism','Malformation syndrome','Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.'),('1842','Bone dysplasia, lethal Holmgren type','Malformation syndrome','Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.'),('1844','OBSOLETE: Bone dysplasia, Azouz type','Malformation syndrome','no definition available'),('1848','Renal agenesis, bilateral','Clinical subtype','Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.'),('1849','OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome','Malformation syndrome','no definition available'),('185','Scimitar syndrome','Malformation syndrome','Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.'),('1850','Renal dysplasia-megalocystis-sirenomelia syndrome','Malformation syndrome','no definition available'),('1851','Multicystic dysplastic kidney','Morphological anomaly','A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.'),('1852','X-linked retinal dysplasia','Disease','no definition available'),('1855','Spondyloenchondrodysplasia','Malformation syndrome','Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.'),('1856','Spondyloperipheral dysplasia-short ulna syndrome','Disease','Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.'),('1858','Skeletal dysplasia-epilepsy-short stature syndrome','Malformation syndrome','A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactily, slight generalized hypotonia and hyper extensible joints.'),('186','Primary biliary cholangitis','Disease','Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.'),('1860','Thanatophoric dysplasia type 1','Clinical subtype','Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.'),('1861','Thoracic dysplasia-hydrocephalus syndrome','Malformation syndrome','Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.'),('1863','NON RARE IN EUROPE: Trochlear dysplasia','Morphological anomaly','no definition available'),('1864','OBSOLETE: Congenital valvular dysplasia','Morphological anomaly','no definition available'),('1865','Dyssegmental dysplasia, Silverman-Handmaker type','Disease','Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.'),('1866','Focal, segmental or multifocal dystonia','Category','Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.'),('1867','Hereditary bullous dystrophy, macular type','Disease','Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.'),('187','Citrullinemia','Category','Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).'),('1871','Progressive cone dystrophy','Disease','A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.'),('1872','Cone rod dystrophy','Disease','A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.'),('1873','Jalili syndrome','Malformation syndrome','Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).'),('1875','Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome','Disease','Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.'),('1876','Oculogastrointestinal muscular dystrophy','Disease','Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.'),('1877','Muscular dystrophy-white matter spongiosis syndrome','Disease','no definition available'),('1878','TRIM32-related limb-girdle muscular dystrophy R8','Disease','A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.'),('1879','Melorheostosis with osteopoikilosis','Malformation syndrome','Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.'),('188','Systemic capillary leak syndrome','Disease','Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia.'),('1880','Ebstein malformation','Morphological anomaly','Ebstein`s malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.'),('1882','Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome','Malformation syndrome','A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.'),('1883','Ectodermal dysplasia-sensorineural deafness syndrome','Malformation syndrome','Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.'),('1884','Ectopia lentis-chorioretinal dystrophy-myopia syndrome','Disease','A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.'),('1885','Isolated ectopia lentis','Malformation syndrome','Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.'),('1888','Ectrodactyly-ectodermal dysplasia without clefting syndrome','Malformation syndrome','no definition available'),('1889','Ectrodactyly-cleft palate syndrome','Malformation syndrome','no definition available'),('189','Hidrotic ectodermal dysplasia','Disease','Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.'),('1891','Intellectual disability-spasticity-ectrodactyly syndrome','Malformation syndrome','Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).'),('1892','Ectrodactyly-polydactyly syndrome','Malformation syndrome','Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.'),('1894','Ectrodactyly-spina bifida-cardiopathy syndrome','Malformation syndrome','no definition available'),('189424','OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia','Clinical group','no definition available'),('189427','Cushing syndrome due to macronodular adrenal hyperplasia','Disease','A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.'),('189439','Primary pigmented nodular adrenocortical disease','Disease','Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).'),('189466','Familial isolated hypoparathyroidism due to impaired PTH secretion','Clinical subtype','no definition available'),('1895','Edinburgh malformation syndrome','Malformation syndrome','Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.'),('1896','EEC syndrome','Malformation syndrome','EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).'),('1897','EEM syndrome','Malformation syndrome','EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).'),('1899','Arthrochalasia Ehlers-Danlos syndrome','Disease','A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.'),('19','2-hydroxyglutaric aciduria','Clinical group','2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.'),('190','Coats disease','Disease','Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.'),('1900','Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency','Clinical subtype','A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.'),('1901','Dermatosparaxis Ehlers-Danlos syndrome','Disease','A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.'),('1902','Ehrlichiosis','Disease','A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).'),('1906','Fetal valproate syndrome','Malformation syndrome','A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).'),('1908','Aminopterin/methotrexate embryofetopathy','Malformation syndrome','A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.'),('1909','Indomethacin embryofetopathy','Malformation syndrome','Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.'),('191','Cockayne syndrome','Disease','Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.'),('1910','Fetal iodine syndrome','Malformation syndrome','Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).'),('1911','Cocaine embryofetopathy','Malformation syndrome','Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.'),('1912','Fetal hydantoin syndrome','Malformation syndrome','A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.'),('1913','Fetal trimethadione syndrome','Malformation syndrome','A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.'),('1914','Vitamin K antagonist embryofetopathy','Malformation syndrome','Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.'),('1915','Fetal alcohol syndrome','Malformation syndrome','Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).'),('1916','Diethylstilbestrol syndrome','Malformation syndrome','A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.'),('1917','Fetal methylmercury syndrome','Malformation syndrome','A rare disorder characterized by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.'),('1918','Fetal minoxidil syndrome','Malformation syndrome','Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.'),('1919','Phenobarbital embryopathy','Malformation syndrome','A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.'),('192','Coffin-Lowry syndrome','Malformation syndrome','Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.'),('1920','Toluene embryopathy','Malformation syndrome','A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.'),('1923','Methimazole embryofetopathy','Malformation syndrome','A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves` disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.'),('1926','Diabetic embryopathy','Malformation syndrome','A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.'),('1927','Emery-Nelson syndrome','Malformation syndrome','Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.'),('1928','Congenital lobar emphysema','Morphological anomaly','A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.'),('1929','Rasmussen subacute encephalitis','Disease','A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.'),('193','Cohen syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.'),('1930','Herpes simplex virus encephalitis','Disease','A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.'),('1931','Frontal encephalocele','Clinical subtype','no definition available'),('1933','Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria','Disease','Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.'),('1934','Early infantile epileptic encephalopathy','Clinical syndrome','A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.'),('1935','Early myoclonic encephalopathy','Clinical syndrome','A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.'),('1937','Eng-Strom syndrome','Malformation syndrome','A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.'),('1939','OBSOLETE: Envenomization by Bothrops lanceolatus','Disease','no definition available'),('194','OBSOLETE: Ocular coloboma','Clinical group','no definition available'),('1940','Shoulder and thorax deformity-congenital heart disease syndrome','Malformation syndrome','no definition available'),('1941','Juvenile absence epilepsy','Disease','Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.'),('1942','Myoclonic-astastic epilepsy','Disease','A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.'),('1943','Early-onset progressive encephalopathy with migrant continuous myoclonus','Disease','A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.'),('1945','Rolandic epilepsy','Disease','Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.'),('1946','Amelocerebrohypohidrotic syndrome','Malformation syndrome','Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.'),('1947','Progressive epilepsy-intellectual disability syndrome, Finnish type','Disease','Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.'),('1948','Epilepsy-microcephaly-skeletal dysplasia syndrome','Malformation syndrome','Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.'),('1949','Benign familial neonatal epilepsy','Disease','Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.'),('195','Cat-eye syndrome','Malformation syndrome','Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.'),('1951','Epilepsy-telangiectasia syndrome','Disease','A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.'),('1952','Pacman dysplasia','Malformation syndrome','A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.'),('1954','Congenital lethal erythroderma','Disease','A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.'),('1955','Spinocerebellar ataxia type 34','Disease','An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.'),('1956','OBSOLETE: Erythromelalgia','Disease','no definition available'),('1957','Esthesioneuroblastoma','Disease','Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.'),('1959','Evans syndrome','Disease','A rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.'),('1962','Exostoses-anetodermia-brachydactyly type E syndrome','Malformation syndrome','An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.'),('1964','Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome','Malformation syndrome','Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.'),('1968','Flat face-microstomia-ear anomaly syndrome','Malformation syndrome','Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.'),('1969','Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome','Malformation syndrome','Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.'),('1970','Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome','Malformation syndrome','A rare disorder characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.'),('1972','Lethal faciocardiomelic dysplasia','Malformation syndrome','An extremely rare polymalformative syndrome.'),('1973','Faciocardiorenal syndrome','Malformation syndrome','A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.'),('1974','Autosomal recessive faciodigitogenital syndrome','Malformation syndrome','A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.'),('1979','Lipodystrophy due to peptidic growth factors deficiency','Disease','Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).'),('198','Occipital horn syndrome','Disease','Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.'),('1980','Bilateral striopallidodentate calcinosis','Disease','Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.'),('1981','Fanconi syndrome-ichthyosis-dysmorphism syndrome','Disease','no definition available'),('1983','NON RARE IN EUROPE: Chronic fatigue syndrome','Disease','no definition available'),('1984','Fechtner syndrome','Clinical subtype','no definition available'),('1986','Gollop-Wolfgang complex','Malformation syndrome','A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.'),('1987','Femoral agenesis/hypoplasia','Malformation syndrome','Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.'),('1988','Femoral-facial syndrome','Malformation syndrome','Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.'),('199','Cornelia de Lange syndrome','Malformation syndrome','Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).'),('1991','Cleft lip with or without cleft palate','Clinical group','no definition available'),('199241','Pulmonary capillary hemangiomatosis','Disease','no definition available'),('199244','Nelson syndrome','Clinical syndrome','A rare, acquired, endocrine disease characterized by the triad of diffuse skin and mucosa hyperpigmentation, markedly elevated serum adrenocorticotropin (ACTH) levels and an enlarging corticotroph adenoma, which manifest following total bilateral adrenalectomy performed for the treatment of Cushing`s disease. Additionally, patients may present with headaches, visual field defects, cranial nerve palsy, pituitary apoplexy, diabetes inspidus, panhypopituitarism, and, occasionally, paraovarian or paratesticular tumors.'),('199247','Corticosteroid-binding globulin deficiency','Disease','Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.'),('199251','Ledderhose disease','Disease','A rare, benign, superficial fibromatosis disease characterized by single or multiple, uni- or bilateral, fixed, slow-growing, round, firm nodules typically located on the medial portion of the plantar aponeurosis, with no calcification. Patients are often asymptomatic or may present with foot pain, difficulty to walk or stand and, rarely, toe contractures. Histopathology reveals dense fibrocellular tissue with parallel and nodular arrays of fibrocytes and fibrillar collagen with a distinctive cork-screw morphology and no atypia.'),('199257','Superficial fibromatosis','Clinical group','no definition available'),('199260','Calcifying aponeurotic fibroma','Disease','A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.'),('199267','Infantile digital fibromatosis','Disease','Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.'),('199276','Familial multiple lipomatosis','Disease','Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.'),('199279','Familial angiolipomatosis','Disease','Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.'),('199282','Harlequin syndrome','Disease','Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.'),('199285','Hereditary hypercarotenemia and vitamin A deficiency','Disease','Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.'),('199293','Congenital microgastria','Morphological anomaly','Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.'),('199296','Congenital isolated ACTH deficiency','Disease','A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated.'),('199299','Late-onset isolated ACTH deficiency','Disease','Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto`s thyroiditis has been described.'),('1993','Pai syndrome','Malformation syndrome','A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.'),('199302','Isolated cleft lip','Morphological anomaly','Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.'),('199306','Cleft lip/palate','Morphological anomaly','Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.'),('199310','Tetragametic chimerism','Malformation syndrome','A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.'),('199315','Familial clubfoot with or without associated lower limb anomalies','Malformation syndrome','Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.'),('199318','15q13.3 microdeletion syndrome','Malformation syndrome','15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.'),('199323','Endophthalmitis','Disease','no definition available'),('199326','Isolated autosomal dominant hypomagnesemia, Glaudemans type','Disease','Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.'),('199329','Congenital myopathy, Paradas type','Disease','Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.'),('199332','Endocrine-cerebro-osteodysplasia syndrome','Malformation syndrome','Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.'),('199337','Pancreatic insufficiency-anemia-hyperostosis syndrome','Disease','This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.'),('199340','Muscular dystrophy, Selcen type','Disease','Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.'),('199343','EAST syndrome','Disease','SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).'),('199348','Thiamine-responsive encephalopathy','Disease','Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.'),('199351','Adult-onset dystonia-parkinsonism','Disease','A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.'),('199354','Cerebral autosomal recessive arteriopathy-subcortical infracts-leukoencephalopathy','Disease','CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.'),('1995','Cleft lip-retinopathy syndrome','Malformation syndrome','Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.'),('199627','Atypical autism','Disease','A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.'),('199630','Isolated cerebellar vermis hypoplasia','Morphological anomaly','Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.'),('199633','Non-syndromic cerebral malformation','Category','no definition available'),('199639','Syndrome with corpus callosum agenesis/dysgenesis as a major feature','Category','no definition available'),('199642','Isolated congenital microcephaly','Malformation syndrome','A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.'),('199647','Isolated encephalocele','Morphological anomaly','A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size nad location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.'),('1997','Blepharo-cheilo-odontic syndrome','Malformation syndrome','Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.'),('20','3-hydroxy-3-methylglutaric aciduria','Disease','A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.'),('200','Isolated corpus callosum agenesis','Morphological anomaly','no definition available'),('200037','Paroxysmal dystonia','Clinical group','no definition available'),('2001','Cleft lip/palate-intestinal malrotation-cardiopathy syndrome','Malformation syndrome','Cleft lip/palate-intestinal malrotation-cardiopathy is a multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.'),('2003','Cleft lip/palate-deafness-sacral lipoma syndrome','Malformation syndrome','Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.'),('2004','Laryngotracheoesophageal cleft','Morphological anomaly','A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.'),('200418','Immunodeficiency with factor I anomaly','Disease','Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.'),('200421','Immunodeficiency with factor H anomaly','Disease','Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.'),('2005','OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome','Malformation syndrome','no definition available'),('2006','Median cleft lip/mandibule','Morphological anomaly','Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier`s classification.'),('2007','Alar cartilages hypoplasia-coloboma-telecanthus syndrome','Malformation syndrome','A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.'),('2008','Acrocardiofacial syndrome','Malformation syndrome','A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.'),('201','Cowden syndrome','Disease','A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.'),('2010','Cleft palate-stapes fixation-oligodontia syndrome','Malformation syndrome','Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.'),('2013','Cleft palate-large ears-small head syndrome','Malformation syndrome','Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.'),('2014','Cleft palate','Clinical group','A fissure type embryopathy that affects the soft and hard palate to varying degrees.'),('2015','Cleft palate-short stature-vertebral anomalies syndrome','Malformation syndrome','Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.'),('2016','Cleft palate-lateral synechia syndrome','Malformation syndrome','Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.'),('2017','Sternal cleft','Morphological anomaly','Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.'),('2019','Femur-fibula-ulna complex','Malformation syndrome','Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.'),('202','Crandall syndrome','Disease','Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad`s syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.'),('2020','Congenital fiber-type disproportion myopathy','Disease','A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.'),('2021','Fibrochondrogenesis','Disease','Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.'),('2022','Endocardial fibroelastosis','Disease','Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.'),('2023','Undifferentiated pleomorphic sarcoma','Disease','An aggressive sarcoma of soft tissues or bone that can arise from any part of the body, clinically presenting as swelling, mass, pain, pathological fracture and occasional systemic features and is characterized by high local recurrence and significant metastasis.'),('2024','Hereditary gingival fibromatosis','Malformation syndrome','Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.'),('2025','Gingival fibromatosis-facial dysmorphism syndrome','Malformation syndrome','A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.'),('2026','Gingival fibromatosis-hypertrichosis syndrome','Malformation syndrome','A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.'),('2027','Gingival fibromatosis-progressive deafness syndrome','Malformation syndrome','A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.'),('2028','Juvenile hyaline fibromatosis','Clinical subtype','A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.'),('2029','Multiple non-ossifying fibromatosis','Malformation syndrome','no definition available'),('202940','Anomaly of puberty or/and menstrual cycle of genetic origin','Category','no definition available'),('202948','Syndromic microphthalmia-anophthalmia-coloboma','Category','no definition available'),('2030','Fibrosarcoma','Disease','no definition available'),('2031','Hepatic fibrosis-renal cysts-intellectual disability syndrome','Malformation syndrome','Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.'),('2032','Idiopathic pulmonary fibrosis','Disease','Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.'),('2033','OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome','Disease','no definition available'),('2034','Filariasis','Category','A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.'),('2035','Lymphatic filariasis','Disease','Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti, Brugia malayi and Brugia timori, and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.'),('2036','Scalp-ear-nipple syndrome','Malformation syndrome','A rare syndrome characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed.'),('2037','Congenital aortopulmonary window','Morphological anomaly','no definition available'),('2038','Pulmonary arteriovenous malformation','Morphological anomaly','Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.'),('2039','Congenital systemic arteriovenous fistula','Morphological anomaly','Congenital systemic arteriovenous fistula is a rare, potentially life-threatening, vascular malformation characterized by a direct communication between an artery and a vein, without the interposition of the capillary bed, ocurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.'),('204','Sporadic Creutzfeldt-Jakob disease','Disease','A subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD , and iatrogenic and variant CJD (vCJD).'),('2040','Congenital respiratory-biliary fistula','Morphological anomaly','Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.'),('2041','Coronary arterial fistula','Morphological anomaly','Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.'),('2042','OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome','Malformation syndrome','no definition available'),('2044','Floating-Harbor syndrome','Malformation syndrome','A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.'),('2045','FLOTCH syndrome','Disease','FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.'),('2047','Flynn-Aird syndrome','Disease','A rare neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts.'),('2048','Foix-Chavany-Marie syndrome','Malformation syndrome','A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.'),('205','Crigler-Najjar syndrome','Disease','Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.'),('2050','Cole-Carpenter syndrome','Malformation syndrome','An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).'),('2051','Fraser-like syndrome','Malformation syndrome','no definition available'),('2052','Fraser syndrome','Malformation syndrome','A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.'),('2053','Freeman-Sheldon syndrome','Malformation syndrome','Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.'),('2054','OBSOLETE: Osteochondritis of tarsal/metatarsal bone','Disease','no definition available'),('2055','Growth deficiency-brachydactyly-dysmorphism syndrome','Malformation syndrome','no definition available'),('2056','Essential fructosuria','Disease','Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.'),('2057','Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome','Malformation syndrome','A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.'),('2058','Fryns-Smeets-Thiry syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994.'),('2059','Fryns syndrome','Malformation syndrome','A rare multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.'),('206','NON RARE IN EUROPE: Crohn disease','Disease','no definition available'),('2060','Fukuda-Miyanomae-Nakata syndrome','Malformation syndrome','no definition available'),('2062','Progressive non-infectious anterior vertebral fusion','Malformation syndrome','Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.'),('2063','Splenogonadal fusion-limb defects-micrognathia syndrome','Malformation syndrome','Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.'),('2064','Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome','Malformation syndrome','A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.'),('206428','Hypoxanthine-guanine phosphoribosyltransferase deficiency','Clinical group','Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.'),('206436','Infantile Krabbe disease','Clinical subtype','no definition available'),('206443','Late-infantile/juvenile Krabbe disease','Clinical subtype','no definition available'),('206448','Adult Krabbe disease','Clinical subtype','no definition available'),('206470','Cystadenoma of childhood','Disease','Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.'),('206473','Borderline epithelial tumor of ovary','Disease','Borderline epithelial tumor of the ovary is an uncommon epithelial ovarian neoplasm, distinguished from ovarian carcinomas by the absence of destructive stromal invasion, generally characterized by indolent behavior and excellent prognosis. Most patients are asymptomatic at the time of diagnosis, and the symptoms, if present, are often nonspecific and vague, such as pelvic pain, abdominal mass or, rarely, gastrointestinal problems including early satiety or bloating. Six histological subtypes are currently recognized, based on the epithelial cell type.'),('206484','Gonadoblastoma','Disease','Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.'),('206489','Malignant germ cell tumor of the vagina','Disease','Malignant germ cell tumor of the vagina is an extremely rare, malignant, vulvovaginal neoplasm, deriving from primordial germ cells in the vagina, typically characterized by painless bloody vaginal discharge and a polypoid mass which protrudes from the vagina. Serum alpha-fetoprotein is usually elevated and rapid progression, local agression and early metastasis to liver and lungs is reported.'),('206492','Vulvovaginal rhabdomyosarcoma','Disease','Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vaginal mass that may be polypoid or grape-like (embryonal subtype) and associated with bleeding and ulceration.'),('2065','Galloway-Mowat syndrome','Malformation syndrome','A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.'),('206538','Malignant non-dysgerminomatous germ cell tumor of ovary','Disease','Malignant non-dysgerminomatous germ cell tumor of ovary is a rare malignant germ cell tumor of ovary (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen, with certain subtypes being occasionally associated with isosexual precocity, virilization, hyperthyroidism or carcinoid syndrome (see this term). Histologically they comprise the following: embryonal carcinoma, Yolk sac tumor, polyembryoma and mixed germ cell tumor.'),('206546','Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers','Disease','A rare, genetic muscular dystrophy affecting female carriers and characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.'),('206549','Anoctamin-5-related limb-girdle muscular dystrophy R12','Disease','A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.'),('206554','Fukutin-related limb-girdle muscular dystrophy R13','Disease','A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.'),('206559','POMT2-related limb-girdle muscular dystrophy R14','Disease','A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).'),('206564','POMGNT1-related limb-girdle muscular dystrophy R15','Disease','A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.'),('206569','Immune-mediated necrotizing myopathy','Disease','Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.'),('206572','Overlap myositis','Disease','Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.'),('206575','Rippling muscle disease with myasthenia gravis','Disease','Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by CAV3 mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).'),('206580','Autosomal recessive lower motor neuron disease with childhood onset','Disease','A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.'),('206583','Adult polyglucosan body disease','Clinical subtype','A glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.'),('206586','Neurolymphomatosis','Disease','Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin`s lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots. The clinical presentation is diverse depending on the site involved and includes plexopathy, mononeuritis multiplex, peripheral neuropathy, radiculopathy and cranial nerve palsies.'),('206594','Subacute inflammatory demyelinating polyneuropathy','Disease','Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).'),('206599','Isolated asymptomatic elevation of creatine phosphokinase','Biological anomaly','Isolated asymptomatic elevation of creatine phosphokinase is a rare neurologic disease characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.'),('2066','Gamma-aminobutyric acid transaminase deficiency','Disease','Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.'),('206606','OBSOLETE: Other muscle weakness and/or chronic muscle pain','Clinical group','no definition available'),('206610','OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain','Clinical group','no definition available'),('206613','Infectious disease with peripheral neuropathy','Category','no definition available'),('206616','OBSOLETE: Acquired metabolic neuropathy','Disease','no definition available'),('206619','OBSOLETE: Toxic or/and iatrogenic neuropathy','Disease','no definition available'),('206634','Genetic skeletal muscle disease','Category','no definition available'),('206638','Acquired skeletal muscle disease','Category','no definition available'),('206644','Progressive muscular dystrophy','Category','no definition available'),('206647','Myotonic dystrophy','Clinical group','no definition available'),('206650','Autosomal dominant distal myopathy','Category','no definition available'),('206653','Autosomal recessive distal myopathy','Category','no definition available'),('206656','Non-dystrophic myopathy','Category','no definition available'),('206659','OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly','Clinical group','no definition available'),('206662','Inclusion myopathy','Category','no definition available'),('2067','GAPO syndrome','Malformation syndrome','A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations.'),('206701','Bulbospinal muscular atrophy','Category','no definition available'),('206704','Bulbospinal muscular atrophy of childhood','Clinical group','no definition available'),('206707','Bulbospinal muscular atrophy of adult','Clinical group','no definition available'),('206710','Generalized bulbospinal muscular atrophy','Clinical group','no definition available'),('206713','OBSOLETE: Distal spinal muscular atrophy','Clinical group','no definition available'),('2069','Gastrocutaneous syndrome','Disease','A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.'),('206953','Muscular lipidosis','Category','no definition available'),('206959','Muscular glycogenosis','Clinical group','no definition available'),('206966','Mitochondrial myopathy','Category','no definition available'),('206970','Myotonic syndrome','Category','no definition available'),('206973','Congenital myotonia','Clinical group','no definition available'),('206976','Periodic paralysis','Clinical group','no definition available'),('206979','OBSOLETE: Granulomatous myositis','Category','no definition available'),('206982','Muscular tumor','Category','no definition available'),('206985','OBSOLETE: Drug and/or toxic myopathy','Category','no definition available'),('206988','Infectious, fungal or parasitic myopathy','Category','no definition available'),('206991','Viral myositis','Disease','A rare acquired skeletal muscle disease characterized by sudden onset of muscle weakness, tenderness, and pain during or following recovery from a viral illness. The most commonly reported underlying viral infections are influenza B and A, the latter being the significantly less frequent cause. Most cases occur in children. Symptoms are often limited to the calf muscles, but other muscle groups may be involved as well. The condition is typically self-limiting, resolving within several days, although rhabdomyolysis with renal failure and compartment syndrome have been reported.'),('206994','Bacterial myositis','Disease','A rare acquired skeletal muscle disease characterized by diffuse muscle infection without an intramuscular abscess. Although a wide variety of bacteria can be causative, the majority of cases are due to streptococcal infection. Signs and symptoms depend on the underlying infectious agent and include muscular pain, swelling, weakness, rash, acute rhabdomyolysis, myonecrosis, and gangrene.'),('206997','Parasitic myositis','Category','no definition available'),('207','Crouzon disease','Malformation syndrome','Crouzon disease is characterized by craniosynostosis and facial hypoplasia.'),('2070','Eosinophilic gastroenteritis','Disease','A rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.'),('207000','Fungal myositis','Disease','A rare acquired skeletal muscle disease characterized by inflammation of a muscle due to infection with a fungus, usually occurring in an immunocompromised host. General symptoms are pain, tenderness, swelling, and/or weakness in the affected muscle. Most common causative agent are Candida species, with myositis developing in the setting of systemic candidiasis, typically as diffuse, multiple microabscesses. Other fungal pathogens potentially causing myositis are Cryptococcus neoformans, Histoplasma capsulatum, Coccidioides species, or Aspergillus species, among others.'),('207003','OBSOLETE: Endocrine myopathy','Category','no definition available'),('207006','OBSOLETE: Acquired amyloid myopathy','Category','no definition available'),('207009','OBSOLETE: Acquired rod-body myopathy','Category','no definition available'),('207012','Spinal muscular atrophy associated with central nervous system anomaly','Clinical group','no definition available'),('207015','Rare hereditary disease with peripheral neuropathy','Category','no definition available'),('207018','Rare hereditary metabolic disease with peripheral neuropathy','Category','no definition available'),('207021','Rare hereditary systemic disease with peripheral neuropathy','Category','no definition available'),('207025','Rare hereditary neurologic disease with peripheral neuropathy','Category','no definition available'),('207028','Cerebellar ataxia with peripheral neuropathy','Category','no definition available'),('207031','OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy','Category','no definition available'),('207038','Acute and subacute inflammatory demyelinating polyneuropathy','Category','no definition available'),('207046','Malignant lymphoma with peripheral neuropathy','Category','no definition available'),('207049','Qualitative or quantitative protein defects in neuromuscular diseases','Category','no definition available'),('207052','Qualitative or quantitative defects of sarcoglycan','Category','no definition available'),('207060','Qualitative or quantitative defects of alpha-sarcoglycan','Category','no definition available'),('207063','Qualitative or quantitative defects of beta-sarcoglycan','Category','no definition available'),('207067','Qualitative or quantitative defects of gamma-sarcoglycan','Category','no definition available'),('207070','Qualitative or quantitative defects of delta-sarcoglycan','Category','no definition available'),('207073','Qualitative or quantitative defects of dysferlin','Category','no definition available'),('207078','Qualitative or quantitative defects of caveolin-3','Category','no definition available'),('207085','Qualitative or quantitative defects of dystrophin','Category','no definition available'),('207090','Qualitative or quantitative defects of collagen 6','Category','no definition available'),('207094','Laminin subunit alpha 2-related muscular dystrophy','Category','no definition available'),('207098','Qualitative or quantitative defects of integrin alpha-7','Category','no definition available'),('207101','Qualitative or quantitative defects of perlecan','Category','no definition available'),('207104','Qualitative or quantitative defects of calpain','Category','no definition available'),('207107','Qualitative or quantitative defects of TRIM32','Category','no definition available'),('207110','Qualitative or quantitative defects of myotubularin','Category','no definition available'),('207113','Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan','Category','no definition available'),('207119','Qualitative or quantitative defects of FKRP','Category','no definition available'),('207122','Qualitative or quantitative defects of fukutin','Category','no definition available'),('2072','Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome','Clinical subtype','Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.'),('2073','Narcolepsy type 1','Disease','Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).'),('2074','Gemignani syndrome','Malformation syndrome','Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.'),('2075','Genitopalatocardiac syndrome','Malformation syndrome','Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.'),('2076','X-linked intellectual disability-epilepsy syndrome','Clinical group','no definition available'),('2077','German syndrome','Malformation syndrome','German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ``carp``-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.'),('2078','Geroderma osteodysplastica','Malformation syndrome','Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.'),('2081','Cerebral gigantism-jaw cysts syndrome','Malformation syndrome','no definition available'),('2083','Prominent glabella-microcephaly-hypogenitalism syndrome','Malformation syndrome','Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.'),('2084','Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome','Malformation syndrome','Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).'),('208441','Bilateral parasagittal parieto-occipital polymicrogyria','Clinical subtype','no definition available'),('208444','Bilateral frontal polymicrogyria','Clinical subtype','no definition available'),('208447','Bilateral generalized polymicrogyria','Clinical subtype','no definition available'),('2085','Glaucoma-sleep apnea syndrome','Disease','Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).'),('208508','Autosomal dominant cerebellar ataxia type II','Clinical group','no definition available'),('208513','Spinocerebellar ataxia type 29','Disease','An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.'),('208524','Herpetiform pemphigus','Disease','A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis).'),('208593','Genetic hypoparathyroidism','Category','no definition available'),('208596','Genetic hyperparathyroidism','Category','no definition available'),('2086','Optic pathway glioma','Disease','Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).'),('208600','OBSOLETE: Papillary fibroelastoma of the heart','Disease','no definition available'),('208650','Cryopyrin-associated periodic syndrome','Clinical group','Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms).'),('2087','Glomerulonephritis-sparse hair-telangiectasis syndrome','Malformation syndrome','no definition available'),('2088','Fanconi-Bickel Syndrome','Disease','A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.'),('2089','Glycogen storage disease due to hepatic glycogen synthase deficiency','Disease','A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.'),('208974','Chronic acquired demyelinating polyneuropathy','Clinical group','no definition available'),('208978','Chronic polyradiculoneuropathy','Clinical group','no definition available'),('208981','Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies','Disease','no definition available'),('208984','Acquired sensory ganglionopathy','Category','no definition available'),('208989','Non-paraneoplastic sensory ganglionopathy','Category','no definition available'),('208994','OBSOLETE: Other ganglionopathy related to autoimmune diseases','Clinical group','no definition available'),('208999','Paraneoplastic sensory ganglionopathy','Category','no definition available'),('209','Cutis laxa','Clinical group','Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.'),('2090','GMS syndrome','Malformation syndrome','GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.'),('209004','Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy','Disease','no definition available'),('209007','Systemic inflammatory disease associated with an acquired peripheral neuropathy','Category','no definition available'),('209010','Peripheral neuropathy associated with monoclonal gammopathy','Category','no definition available'),('209013','Acquired amyloid peripheral neuropathy','Category','no definition available'),('209016','Hematological disease associated with an acquired peripheral neuropathy','Category','no definition available'),('209019','Solid tumor associated with an acquired peripheral neuropathy','Category','no definition available'),('209024','Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase','Category','no definition available'),('209027','Qualitative or quantitative defects of protein glycosyltransferase-like','Category','no definition available'),('209030','Qualitative or quantitative defects of protein O-mannosyltransferase 1','Category','no definition available'),('209033','Qualitative or quantitative defects of protein O-mannosyltransferase 2','Category','no definition available'),('209038','Qualitative or quantitative defects of myofibrillar proteins','Category','no definition available'),('209041','Qualitative or quantitative defects of desmin','Category','no definition available'),('209044','Qualitative or quantitative defects of alphaB-cristallin','Category','no definition available'),('209047','Qualitative or quantitative defects of filamin C','Category','no definition available'),('209050','Qualitative or quantitative defects of protein ZASP','Category','no definition available'),('209053','Qualitative or quantitative defects of titin','Category','no definition available'),('209056','Qualitative or quantitative defects of telethonin','Category','no definition available'),('209059','Qualitative or quantitative defects of alpha-actin','Category','no definition available'),('2091','Multinodular goiter-cystic kidney-polydactyly syndrome','Malformation syndrome','Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.'),('209182','Qualitative or quantitative defects of nebulin','Category','no definition available'),('209185','Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)','Category','no definition available'),('209188','Qualitative or quantitative defects of emerin','Category','no definition available'),('209193','Qualitative or quantitative defects of selenoprotein N1','Category','no definition available'),('209196','Qualitative or quantitative defects of plectin','Category','no definition available'),('209199','Qualitative or quantitative defects of protein SERCA1','Category','no definition available'),('2092','Focal dermal hypoplasia','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.'),('209203','Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -','Category','no definition available'),('209224','Myotilinopathy','Category','no definition available'),('209335','Autosomal dominant adult-onset proximal spinal muscular atrophy','Disease','A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.'),('209341','DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy','Etiological subtype','no definition available'),('209370','Severe neonatal-onset encephalopathy with microcephaly','Disease','Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.'),('2095','Gorlin-Chaudhry-Moss syndrome','Malformation syndrome','Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.'),('2097','Grant syndrome','Malformation syndrome','Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.'),('2098','Acromesomelic dysplasia, Grebe type','Malformation syndrome','A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.'),('209867','Autosomal dominant rhegmatogenous retinal detachment','Disease','A rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.'),('209886','OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1','Disease','no definition available'),('209893','NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency','Biological anomaly','no definition available'),('2099','OBSOLETE: Grix-Blankenship-Peterson syndrome','Malformation syndrome','no definition available'),('209902','Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency','Disease','Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.'),('209905','Brain-lung-thyroid syndrome','Disease','Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).'),('209908','Childhood apraxia of speech','Disease','A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits. Initial presentation may be a severe expressive speech delay. Later, characteristic features are inconsistent errors on consonants and vowels in repeated productions of syllables or words, lengthened and disrupted coarticulatory transitions between sounds and syllables, and inappropriate prosody.'),('209916','Extraskeletal myxoid chondrosarcoma','Disease','A rare soft tissue sarcoma characterized by a lesion in the deep soft tissues of the proximal extremities and limb girdles, composed of malignant chondroblast-like cells arranged in cords, clusters, or networks, and an abundant myxoid matrix. The tumor is typically encased by a pseudocapsule and divided into multiple nodules by fibrous septa. Patients present with a soft tissue mass which can be painful and may ulcerate the skin or restrict range of motion if located next to joints. Despite prolonged survival, local recurrence and metastasis are frequent.'),('209919','Idiopathic copper-associated cirrhosis','Disease','Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.'),('209932','Cone dystrophy with supernormal rod response','Disease','Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.'),('209943','IRVAN syndrome','Disease','A rare retinal vasculopathy disease characterized by idiopathic retinal vasculitis (IRV), aneurysmal dilations (A) at arteriolar bifurcations, and neuroretinitis (N), which if untreated progresses to peripheral capillary non-perfusion, retinal neovascularization, and macular exudation, leading to severe, bilateral vision loss.'),('209951','Autosomal recessive spastic paraplegia type 18','Disease','Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.'),('209956','Idiopathic uveal effusion syndrome','Disease','Idiopathic uveal effusion syndrome is a rare acquired eye disease characterized by uni- or bilateral abnormal fluid accumulation within the suprachoroidal space, resulting in internal choroidal elevation, in the absence of any known cause, such as decreased intraocular tension, intraocular tumor, intraocular inflammation or nanophtalmos. Patients typically present a protracted, relapsing-remitting course of visual acuity loss and fundus examination shows annular celio-choroidal detachment and shifting, serous retinal detachment.'),('209959','Phacoanaphylactic uveitis','Disease','no definition available'),('209964','Solitary rectal ulcer syndrome','Disease','Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.'),('209967','Episodic ataxia type 6','Disease','Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.'),('209970','Episodic ataxia type 7','Disease','Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.'),('209973','Benign nocturnal alternating hemiplegia of childhood','Disease','Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.'),('209978','Alternating hemiplegia','Clinical group','no definition available'),('209981','IRIDA syndrome','Disease','IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.'),('209989','Non-papillary transitional cell carcinoma of the bladder','Disease','no definition available'),('210','Cyclosporosis','Disease','Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.'),('2101','Grubben-de Cock-Borghgraef syndrome','Malformation syndrome','Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.'),('210110','Intermediate osteopetrosis','Malformation syndrome','Intermediate osteopetrosis is a rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.'),('210115','Sterile multifocal osteomyelitis with periostitis and pustulosis','Disease','Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.'),('210122','Congenital alveolar capillary dysplasia','Disease','Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.'),('210128','Urocanic aciduria','Disease','Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.'),('210133','Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome','Disease','Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.'),('210136','Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome','Disease','Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.'),('210141','Inherited congenital spastic tetraplegia','Disease','Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.'),('210144','Lethal polymalformative syndrome, Boissel type','Malformation syndrome','Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.'),('210159','Adult hepatocellular carcinoma','Disease','A rare neoplastic disease and the most common primary liver cancer of adulthood, characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse.'),('210163','Congenital lethal myopathy, Compton-North type','Disease','Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.'),('2102','GTP cyclohydrolase I deficiency','Clinical subtype','GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.'),('210272','Mal de débarquement','Clinical syndrome','Mal de débarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.'),('2103','Guillain-Barré syndrome','Clinical group','A clinically heterogeneous spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.'),('2104','Dysmorphism-pectus carinatum-joint laxity syndrome','Malformation syndrome','Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.'),('210548','Macrocephaly-intellectual disability-autism syndrome','Disease','A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.'),('210566','Myoclonic dystonia 15','Disease','no definition available'),('210571','Dystonia 16','Disease','Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.'),('210576','Congenital temporomandibular joint ankylosis','Disease','Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.'),('210581','Temporomandibular joint anomaly','Category','no definition available'),('210584','Spindle cell hemangioma','Disease','Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis.'),('210589','Infantile hemangioma of rare localization','Clinical group','no definition available'),('210592','OBSOLETE: Giant infantile hemangioma','Disease','no definition available'),('2107','Hall-Riggs syndrome','Malformation syndrome','Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.'),('2108','Hallermann-Streiff syndrome','Malformation syndrome','Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.'),('2109','Hallermann-Streiff-like syndrome','Malformation syndrome','no definition available'),('211','Familial cylindromatosis','Clinical subtype','no definition available'),('2110','Hallux varus-preaxial polysyndactyly syndrome','Malformation syndrome','Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.'),('211017','Spinocerebellar ataxia type 30','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.'),('211037','Autosomal dominant proximal spinal muscular atrophy','Clinical group','no definition available'),('211047','Specific learning disability','Clinical group','no definition available'),('211053','Specific language disorder','Clinical group','no definition available'),('211062','Hereditary episodic ataxia','Category','Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.'),('211067','Episodic ataxia type 5','Disease','Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.'),('2111','Cystic hamartoma of lung and kidney','Disease','Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.'),('2112','OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome','Malformation syndrome','no definition available'),('211237','Rare vascular tumor','Category','no definition available'),('211240','Genetic vascular anomaly','Category','no definition available'),('211243','Simple vascular malformation','Category','no definition available'),('211247','Rare capillary malformation','Category','no definition available'),('211252','Rare venous malformation','Category','no definition available'),('211255','Rare lymphatic system anomaly','Category','no definition available'),('211266','Rare arteriovenous malformation','Category','no definition available'),('211277','Complex vascular malformation with associated anomalies','Category','no definition available'),('2113','Congenital hypothalamic hamartoma syndrome','Malformation syndrome','no definition available'),('2114','Hip dysplasia, Beukes type','Disease','Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.'),('2115','Harrod syndrome','Malformation syndrome','Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.'),('2116','Hartnup disease','Disease','A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).'),('2117','Hartsfield syndrome','Malformation syndrome','Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.'),('2118','Hawkinsinuria','Disease','Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.'),('2119','HEC syndrome','Malformation syndrome','A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.'),('212','Cystathioninuria','Disease','A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.'),('2120','OBSOLETE: Heckenlively syndrome','Malformation syndrome','no definition available'),('2122','Kaposiform hemangioendothelioma','Disease','A very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.'),('2123','Diffuse neonatal hemangiomatosis','Malformation syndrome','Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.'),('2124','Cavernous hemangiomas of face-supraumbilical midline raphe syndrome','Malformation syndrome','no definition available'),('2125','Sacral hemangiomas-multiple congenital abnormalities syndrome','Malformation syndrome','no definition available'),('2126','Solitary fibrous tumour/hemangiopericytoma','Disease','Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).'),('2128','Isolated hemihyperplasia','Morphological anomaly','Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.'),('2129','OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome','Malformation syndrome','no definition available'),('213','Cystinosis','Disease','A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.'),('2130','Hemimelia','Clinical group','Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity.'),('2131','Alternating hemiplegia of childhood','Disease','A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep.'),('2132','Hemoglobin C disease','Disease','Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).'),('2133','Hemoglobin E disease','Disease','Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.'),('2134','Atypical hemolytic uremic syndrome','Disease','A rare thrombotic microangiopathy disorder characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.'),('2135','Hennekam-Beemer syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.'),('213500','Ovarian cancer','Category','no definition available'),('213504','Adenocarcinoma of ovary','Disease','no definition available'),('213512','Malignant mixed Müllerian tumor of the ovary','Disease','Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis.'),('213517','Familial ovarian cancer','Clinical group','no definition available'),('213524','Hereditary site-specific ovarian cancer syndrome','Disease','Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.'),('213528','Rare adenocarcinoma of the breast','Disease','no definition available'),('213531','Metaplastic carcinoma of the breast','Disease','Metaplastic carcinoma of the breast is a rare, aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration.'),('213557','Salivary gland type cancer of the breast','Disease','Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.'),('213564','Rare uterine cancer','Category','no definition available'),('213569','Rare cancer of corpus uteri','Category','no definition available'),('213574','Rare variants of adenocarcinoma of the corpus uteri','Disease','no definition available'),('213589','Malignant mixed epithelial and mesenchymal tumor of corpus uteri','Clinical group','no definition available'),('2136','Hennekam syndrome','Malformation syndrome','Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.'),('213600','Adenosarcoma of the corpus uteri','Disease','A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.'),('213605','Carcinofibroma of the corpus uteri','Disease','Carcinofibroma of the corpus uteri is an extremely rare subtype of mixed müllerian tumor characterized by the presence of a uterine neoplasm which simuntaneously presents a malignant epithelial component (carcinomatous glands) and a benign mesenchymal component. Clinical presentation typically includes dysfunctional vaginal bleeding, abnormal vaginal discharge and/or lower abdominal pain.'),('213610','Carcinosarcoma of the corpus uteri','Disease','Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.'),('213615','Rhabdomyosarcoma of the corpus uteri','Disease','Rhabdomyosarcoma of the corpus uteri is an extremely rare, highly malignant soft tissue sarcoma located in the uterine body and arising from primitive mesenchymal cells displaying variable degrees of skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and lower abdominal mass. Association with DICER1 syndrome has been reported.'),('213620','Sarcoma of the corpus uteri','Clinical group','no definition available'),('213625','Leiomyosarcoma of the corpus uteri','Disease','Leiomyosarcoma of the corpus uteri is a rare, malignant, mesenchymal tumor of smooth muscle origin characterized, histologically, by spindle and/or pleomorphic cells, often forming disorganized fascicles, with tumor cell necrosis and, macroscopically, by a large, soft, usually intramural mass with irregular borders and necrotic and hemorrhagic areas, located in the uterus. Presenting signs and symptoms typically include dysfunctional vaginal bleeding, vaginal discharge, palpable pelvic mass and/or pelvic pain/pressure. Changes in bowel habits, frequent or painful urination and hematuria may also be associated.'),('213630','Primitive neuroectodermal tumor of the corpus uteri','Disease','Primitive neuroectodermal tumor of the corpus uteri is a rare cancer of corpus uteri derived from neural crest cells, characterized by small, round neoplastic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, poorly circumscribed polypoid mass with necrotic areas and hemorrhage. It usually presents with lower abdominal or pelvic pain, irregular vaginal bleeding or discharge, pelvic mass and uterine enlargement.'),('2137','Autoimmune hepatitis','Disease','Chronic autoimmune hepatitis (AIH) is a rare progressive inflammatory disorder of unknown cause primarily affecting women and associated with circulating autoantibodies, elevated transaminase levels, and increased levels of immunoglobulin.'),('213711','Endometrial stromal sarcoma','Disease','no definition available'),('213716','Squamous cell carcinoma of the corpus uteri','Disease','Squamous cell carcinoma of the corpus uteri is a rare cancer of corpus uteri composed of squamous cells of varying degree of differentiation that usually affects postmenopausal women and presents with abnormal vaginal discharge, dysfunctional bleeding, abdominal pain and distension. It is often associated with cervical stenosis and pyometra.'),('213721','Undifferentiated carcinoma of the corpus uteri','Disease','Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.'),('213726','Papillary carcinoma of the corpus uteri','Disease','no definition available'),('213731','High-grade neuroendocrine carcinoma of the corpus uteri','Disease','High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.'),('213736','Low-grade neuroendocrine tumor of the corpus uteri','Disease','Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.'),('213741','OBSOLETE: Adenoid cystic carcinoma of the corpus uteri','Disease','no definition available'),('213746','Transitional cell carcinoma of the corpus uteri','Disease','A rare uterine cancer characterized by a usually intracavitary, friable, relatively well-circumscribed tumor located in the corpus uteri, with possible infiltration of the myometrium, composed, microscopically, of cells resembling urothelial transition cells, with a papillary or polypoid growth pattern, typically admixed with another type of carcinoma (frequently endometrial adenocarcinoma), generally manifesting with postmenopausal vaginal bleeding.'),('213751','Malignant germ cell tumor of the corpus uteri','Disease','Malignant germ cell tumor of the corpus uteri is an extremely rare uterine neoplasm characterized by a typically polypoid mass deriving from primordial germ cells localized in the endometrium. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. The malignant teratoma and yolk sac tumor histological subtypes are the most common.'),('213761','Rare cancer of cervix uteri','Category','no definition available'),('213767','Squamous cell carcinoma of the cervix uteri','Disease','no definition available'),('213772','Adenocarcinoma of the cervix uteri','Disease','no definition available'),('213777','High-grade neuroendocrine carcinoma of the cervix uteri','Disease','High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.'),('213782','Malignant mixed epithelial and mesenchymal tumor of cervix uteri','Clinical group','no definition available'),('213787','Carcinosarcoma of the cervix uteri','Disease','Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.'),('213792','Adenosarcoma of the cervix uteri','Disease','A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.'),('213797','Sarcoma of cervix uteri','Clinical group','no definition available'),('2138','46,XX ovotesticular disorder of sex development','Malformation syndrome','A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.'),('213802','Rhabdomyosarcoma of the cervix uteri','Disease','Rhabdomyosarcoma of the cervix uteri is a rare, highly malignant soft tissue sarcoma located in the uterine cervix and arising from primitive mesenchymal cells displaying skeletal muscle differentiation. It most often presents with abnormal vaginal discharge or dysfunctional uterine bleeding, abdominal pain and/or a cervical mass protruding into the vagina. Association with DICER1 syndrome has been reported.'),('213807','Leiomyosarcoma of the cervix uteri','Disease','Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.'),('213812','Primitive neuroectodermal tumor of the cervix uteri','Disease','Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.'),('213817','Papillary carcinoma of the cervix uteri','Disease','no definition available'),('213823','Adenoid cystic carcinoma of the cervix uteri','Disease','A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.'),('213828','Adenoid basal carcinoma of the cervix uteri','Disease','A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.'),('213833','Glassy cell carcinoma of the cervix uteri','Disease','Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with `ground glass` cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).'),('213837','Malignant germ cell tumor of the cervix uteri','Disease','Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.'),('2139','Hernández-Aguirre Negrete syndrome','Malformation syndrome','Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.'),('214','Cystinuria','Disease','A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.'),('2140','Congenital diaphragmatic hernia','Morphological anomaly','Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.'),('2141','Diaphragmatic defect-limb deficiency-skull defect syndrome','Malformation syndrome','Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.'),('2143','Donnai-Barrow syndrome','Malformation syndrome','A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.'),('2145','Craniosynostosis, Herrmann-Opitz type','Malformation syndrome','Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.'),('2148','Lissencephaly type 1 due to doublecortin gene mutation','Disease','Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.'),('2149','Nodular neuronal heterotopia','Morphological anomaly','no definition available'),('215','Congenital stationary night blindness','Disease','Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.'),('2150','Hirschsprung disease-type D brachydactyly syndrome','Malformation syndrome','Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.'),('2151','Hirschsprung disease-ganglioneuroblastoma syndrome','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated.'),('2152','Mowat-Wilson syndrome','Malformation syndrome','Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations.'),('2153','Hirschsprung disease-nail hypoplasia-dysmorphism syndrome','Malformation syndrome','Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.'),('2155','Hirschsprung disease-deafness-polydactyly syndrome','Malformation syndrome','Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.'),('2156','OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome','Malformation syndrome','no definition available'),('2157','Histidinemia','Disease','Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.'),('2158','Histidinuria-renal tubular defect syndrome','Disease','no definition available'),('216','Neuronal ceroid lipofuscinosis','Clinical group','Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.'),('2161','OBSOLETE: Holoacardius amorphus','Malformation syndrome','no definition available'),('2162','Holoprosencephaly','Malformation syndrome','Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.'),('2163','Holoprosencephaly-craniosynostosis syndrome','Malformation syndrome','Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.'),('216445','Prelingual non-syndromic genetic deafness','Clinical subtype','no definition available'),('216452','Postlingual non-syndromic genetic deafness','Clinical subtype','no definition available'),('2165','Holoprosencephaly-caudal dysgenesis syndrome','Malformation syndrome','Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).'),('2166','Holoprosencephaly-postaxial polydactyly syndrome','Malformation syndrome','Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).'),('216675','Transposition of the great arteries','Category','no definition available'),('216694','Congenitally corrected transposition of the great arteries','Morphological anomaly','Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.'),('2167','Holzgreve syndrome','Malformation syndrome','Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.'),('216718','Isolated congenitally uncorrected transposition of the great arteries','Clinical subtype','no definition available'),('216729','Congenitally uncorrected transposition of the great arteries with cardiac malformation','Clinical subtype','no definition available'),('216796','Osteogenesis imperfecta type 1','Clinical subtype','Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.'),('2168','Homocarnosinosis','Disease','no definition available'),('216804','Osteogenesis imperfecta type 2','Clinical subtype','Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.'),('216812','Osteogenesis imperfecta type 3','Clinical subtype','Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).'),('216820','Osteogenesis imperfecta type 4','Clinical subtype','Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).'),('216828','Osteogenesis imperfecta type 5','Clinical subtype','Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).'),('216866','Classic pantothenate kinase-associated neurodegeneration','Clinical subtype','no definition available'),('216873','Atypical pantothenate kinase-associated neurodegeneration','Clinical subtype','no definition available'),('2169','Methylcobalamin deficiency type cblE','Clinical subtype','no definition available'),('216972','Niemann-Pick disease type C, severe perinatal form','Clinical subtype','no definition available'),('216975','Niemann-Pick disease type C, severe early infantile neurologic onset','Clinical subtype','no definition available'),('216978','Niemann-Pick disease type C, late infantile neurologic onset','Clinical subtype','no definition available'),('216981','Niemann-Pick disease type C, juvenile neurologic onset','Clinical subtype','no definition available'),('216986','Niemann-Pick disease type C, adult neurologic onset','Clinical subtype','no definition available'),('216989','Autosomal dominant dystrophic epidermolysis bullosa, Pasini type','Clinical subtype','no definition available'),('217','Isolated Dandy-Walker malformation','Morphological anomaly','Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.'),('2170','Methylcobalamin deficiency type cblG','Clinical subtype','no definition available'),('217008','Bockenheimer syndrome','Malformation syndrome','no definition available'),('217012','Spinocerebellar ataxia type 31','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.'),('217017','Zechi-Ceide syndrome','Malformation syndrome','Zechi-Ceide syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.'),('217023','OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly','Etiological subtype','no definition available'),('217026','Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type','Malformation syndrome','Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.'),('217031','NON RARE IN EUROPE: Obesity due to MC3R deficiency','Disease','no definition available'),('217034','Male infertility with normal virilization due to meiosis defect','Disease','no definition available'),('217046','OBSOLETE: Autosomal recessive childhood-onset cortical cataract','Clinical subtype','no definition available'),('217049','OBSOLETE: Rare non-syndromic cataract','Clinical group','no definition available'),('217052','OBSOLETE: Infantile non-syndromic cataract','Disease','no definition available'),('217055','Autosomal recessive intermediate Charcot-Marie-Tooth disease type A','Disease','A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.'),('217059','Isolated congenital digital clubbing','Morphological anomaly','Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.'),('217064','5-fluorouracil poisoning','Particular clinical situation in a disease or syndrome','5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.'),('217067','Pouchitis','Particular clinical situation in a disease or syndrome','no definition available'),('217071','Renal cell carcinoma','Clinical group','no definition available'),('217074','Rare carcinoma of pancreas','Category','no definition available'),('217080','Pulmonary fungal infections in patients deemed at risk','Particular clinical situation in a disease or syndrome','no definition available'),('217085','Mucopolysaccharidosis type 2, severe form','Clinical subtype','Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.'),('217093','Mucopolysaccharidosis type 2, attenuated form','Clinical subtype','Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.'),('2172','Microcephaly-glomerulonephritis-marfanoid habitus syndrome','Malformation syndrome','This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.'),('217253','Limbic encephalitis with NMDA receptor antibodies','Disease','A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.'),('217260','Progressive multifocal leukoencephalopathy','Disease','no definition available'),('217266','BNAR syndrome','Malformation syndrome','BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).'),('217315','Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome','Malformation syndrome','no definition available'),('217330','REN-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).'),('217335','RIN2 syndrome','Malformation syndrome','RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.'),('217340','17q21.31 microduplication syndrome','Malformation syndrome','The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.'),('217346','19q13.11 microdeletion syndrome','Malformation syndrome','The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.'),('217371','Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins','Disease','A very rare mitochondrial respiratory chain deficiency characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.'),('217377','Microduplication Xp11.22p11.23 syndrome','Malformation syndrome','Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.'),('217382','Neurodegenerative syndrome due to cerebral folate transport deficiency','Disease','no definition available'),('217385','17p13.3 microduplication syndrome','Malformation syndrome','17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.'),('217390','Combined immunodeficiency due to DOCK8 deficiency','Disease','Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).'),('217396','Progressive polyneuropathy with bilateral striatal necrosis','Disease','Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.'),('217399','Congenital insensitivity to pain with hyperhidrosis','Disease','no definition available'),('2174','Hunter-Carpenter-McDonald syndrome','Disease','no definition available'),('217407','Hereditary hypotrichosis with recurrent skin vesicles','Disease','Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.'),('217410','OBSOLETE: Circumscribed lymphatic malformation','Clinical subtype','no definition available'),('217454','Rare hereditary thrombophilia','Clinical group','no definition available'),('217467','Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency','Disease','Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.'),('217557','Pulmonary interstitial glycogenosis','Disease','Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term).'),('217560','Neuroendocrine cell hyperplasia of infancy','Disease','Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure.'),('217563','Neonatal acute respiratory distress due to SP-B deficiency','Disease','no definition available'),('217566','Chronic respiratory distress with surfactant metabolism deficiency','Disease','Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.'),('217569','Hypertrophic cardiomyopathy','Category','no definition available'),('217572','Glycogen storage disease with hypertrophic cardiomyopathy','Category','no definition available'),('217581','Lysosomal disease with hypertrophic cardiomyopathy','Category','no definition available'),('217587','Mitochondrial disease with hypertrophic cardiomyopathy','Category','no definition available'),('217591','Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy','Category','no definition available'),('217595','Syndrome associated with hypertrophic cardiomyopathy','Category','no definition available'),('217598','Non-familial hypertrophic cardiomyopathy','Category','no definition available'),('2176','Infantile systemic hyalinosis','Clinical subtype','Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.'),('217601','Hypertrophic cardiomyopathy due to intensive athletic training','Disease','no definition available'),('217604','Dilated cardiomyopathy','Category','no definition available'),('217607','Familial dilated cardiomyopathy','Category','no definition available'),('217610','Neuromuscular disease with dilated cardiomyopathy','Category','no definition available'),('217613','Mitochondrial disease with dilated cardiomyopathy','Category','no definition available'),('217616','Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy','Category','no definition available'),('217619','Syndrome associated with dilated cardiomyopathy','Category','no definition available'),('217622','Sensorineural deafness with dilated cardiomyopathy','Disease','Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.'),('217629','Non-familial dilated cardiomyopathy','Category','no definition available'),('217632','Restrictive cardiomyopathy','Category','no definition available'),('217635','Familial restrictive cardiomyopathy','Category','no definition available'),('217638','Lysosomal disease with restrictive cardiomyopathy','Category','no definition available'),('217656','Familial isolated arrhythmogenic right ventricular dysplasia','Disease','Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC (see this term), a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.'),('217678','Unclassified cardiomyopathy','Category','no definition available'),('2177','Hydranencephaly','Malformation syndrome','A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.'),('217720','Non-familial restrictive cardiomyopathy','Category','no definition available'),('218','Darier disease','Disease','Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.'),('2180','Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome','Malformation syndrome','This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.'),('2181','Hydrocephaly-tall stature-joint laxity syndrome','Malformation syndrome','Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.'),('2182','Hydrocephalus with stenosis of the aqueduct of Sylvius','Clinical subtype','Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.'),('2183','Hydrocephalus-obesity-hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.'),('2184','Hydrocephaly-low insertion umbilicus syndrome','Malformation syndrome','no definition available'),('218432','OBSOLETE: Familial restrictive cardiomyopathy type 3','Etiological subtype','no definition available'),('218436','Rare cardiac rhythm disease','Category','no definition available'),('218439','Non-genetic cardiac rhythm disease','Category','no definition available'),('2185','Congenital hydrocephalus','Malformation syndrome','A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.'),('2186','Hydrocephalus-blue sclerae-nephropathy syndrome','Malformation syndrome','Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.'),('2189','Hydrolethalus','Malformation syndrome','Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.'),('219','Delta-sarcoglycan-related limb-girdle muscular dystrophy R6','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.'),('2190','OBSOLETE: Congenital hydronephrosis','Morphological anomaly','no definition available'),('2194','Anti-HLA hyperimmunization','Disease','An increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.'),('2195','Dicarboxylic aminoaciduria','Disease','Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.'),('2196','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement','Disease','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.'),('2197','Idiopathic hypercalciuria','Disease','no definition available'),('2198','Palmoplantar keratoderma-esophageal carcinoma syndrome','Disease','no definition available'),('2199','Epidermolytic palmoplantar keratoderma','Disease','no definition available'),('22','Succinic semialdehyde dehydrogenase deficiency','Disease','A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.'),('220','Denys-Drash syndrome','Disease','A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.'),('2200','Focal palmoplantar and gingival keratoderma','Disease','Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.'),('2201','Palmoplantar keratoderma-spastic paralysis syndrome','Disease','A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.'),('2202','Palmoplantar keratoderma-deafness syndrome','Disease','Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.'),('220295','Xeroderma pigmentosum-Cockayne syndrome complex','Disease','Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).'),('2203','Hyperlysinemia','Disease','Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.'),('220386','Semilobar holoprosencephaly','Clinical subtype','Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.'),('220393','Diffuse cutaneous systemic sclerosis','Clinical subtype','Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).'),('2204','Dysplastic cortical hyperostosis','Malformation syndrome','Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.'),('220402','Limited cutaneous systemic sclerosis','Clinical subtype','Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud`s phenomenon with skin fibrosis limited to the hands, face, feet and forearms.'),('220407','Limited systemic sclerosis','Clinical subtype','Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.'),('220436','Quebec platelet disorder','Disease','Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.'),('220443','Bleeding diathesis due to thromboxane synthesis deficiency','Disease','Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).'),('220448','Macrothrombocytopenia with mitral valve insufficiency','Disease','Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.'),('220452','Isolated hereditary giant platelet disorder','Category','no definition available'),('220460','Attenuated familial adenomatous polyposis','Disease','A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.'),('220465','Laron syndrome with immunodeficiency','Disease','This syndrome is characterized by severe growth retardation associated with immunodeficiency.'),('220489','Rare hereditary hemochromatosis','Category','Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.'),('220493','Joubert syndrome with ocular defect','Malformation syndrome','Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.'),('220497','Joubert syndrome with renal defect','Malformation syndrome','Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.'),('2206','Ankylosing vertebral hyperostosis with tylosis','Malformation syndrome','A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.'),('2207','Familial primary hyperparathyroidism','Clinical group','no definition available'),('2209','Maternal phenylketonuria','Malformation syndrome','A rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.'),('221','Dermatomyositis','Disease','A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.'),('221008','Rothmund-Thomson syndrome type 1','Clinical subtype','Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.'),('221016','Rothmund-Thomson syndrome type 2','Clinical subtype','Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.'),('221039','Hereditary sclerosing poikiloderma, Weary type','Disease','no definition available'),('221043','Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome','Disease','Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.'),('221046','Poikiloderma with neutropenia','Disease','Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.'),('221054','Acrocephalopolydactyly','Malformation syndrome','An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.'),('221061','Familial cerebral cavernous malformation','Malformation syndrome','A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.'),('221074','Marchiafava-Bignami disease','Disease','A rare neurologic disease most prominently characterized by progressive demyelination and necrosis of the corpus callosum. It is in most cases associated with chronic alcoholism and malnutrition. Speed of onset and clinical presentation are very variable with a range of possible symptoms, including dementia, seizures, gait abnormalities, dysarthria, aphasia, athetosis, as well as stupor and coma.'),('221078','Combined hyperactive dysfunction syndrome of the cranial nerves','Disease','Combined hyperactive dysfunction syndrome of the cranial nerves is a rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion. The symptoms may be unilateral or bilateral, may occur synchronously or metachronously, and include trigeminal neuralgia, hemifacial spasm and glossopharyngeal neuralgia.'),('221083','Hemifacial spasm','Disease','A rare acquired peripheral neuropathy characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses.'),('221091','Trigeminal neuralgia','Disease','A rare acquired peripheral neuropathy characterized by paroxysmal, sharp, stabbing, electric-shock-like orofacial pain, that is restricted to one or more of the trigeminal nerve divisions and mostly unilateral. Attacks are brief (few seconds to a maximum of two minutes), but typically occur repeatedly and periodically, can arise spontaneously or be triggered by innocuous stimuli, and are frequently accompanied by tic-like cramps of facial muscles. The condition affects women more often than men.'),('221098','Glossopharyngeal neuralgia','Disease','A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia.'),('2211','Hypertelorism-hypospadias-polysyndactyly syndrome','Malformation syndrome','Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.'),('221106','Isolated facial myokymia','Disease','no definition available'),('221109','Cranial neuralgia','Clinical group','no definition available'),('221114','Acquired peripheral movement disorder','Category','no definition available'),('221117','Gerstmann syndrome','Disease','Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.'),('221120','Pseudoaminopterin syndrome','Malformation syndrome','Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.'),('221126','Fowler vasculopaty','Malformation syndrome','A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.'),('221139','Combined immunodeficiency with faciooculoskeletal anomalies','Disease','Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).'),('221142','Confetti-like macular atrophy','Disease','A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis.'),('221145','Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies','Malformation syndrome','A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).'),('221150','Pitt-Hopkins-like syndrome','Disease','Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.'),('2213','Hypertelorism-microtia-facial clefting syndrome','Malformation syndrome','Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.'),('2215','Multiple pterygium-malignant hyperthermia syndrome','Malformation syndrome','An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.'),('2216','Maternal hyperthermia-induced birth defects','Malformation syndrome','Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.'),('2218','Cervical hypertrichosis-peripheral neuropathy syndrome','Disease','Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.'),('222','Erosive pustular dermatosis of the scalp','Disease','Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.'),('2220','Hypertrichosis cubiti','Malformation syndrome','Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.'),('2221','Acquired hypertrichosis lanuginosa','Disease','A rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.'),('2222','Hypertrichosis lanuginosa congenita','Disease','Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.'),('2224','Hypertryptophanemia','Disease','Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.'),('222628','Hereditary poikiloderma','Category','no definition available'),('2227','NON RARE IN EUROPE: Hypodontia','Morphological anomaly','no definition available'),('2228','Hypodontia-dysplasia of nails syndrome','Malformation syndrome','Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.'),('2229','Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).'),('223','Nephrogenic diabetes insipidus','Disease','A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.'),('2230','Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome','Disease','This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.'),('2232','Primary hypergonadotropic hypogonadism-partial alopecia syndrome','Disease','This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.'),('2233','Hypogonadism-mitral valve prolapse-intellectual disability syndrome','Disease','This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.'),('2234','Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome','Malformation syndrome','This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.'),('2235','Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome','Disease','This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.'),('2237','Hypoparathyroidism-sensorineural deafness-renal disease syndrome','Malformation syndrome','Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).'),('223713','Mitochondrial oxidative phosphorylation disorder','Category','no definition available'),('223727','Bone sarcoma','Clinical group','no definition available'),('223735','Lymphoma','Category','no definition available'),('2238','Familial isolated hypoparathyroidism','Disease','Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.'),('2239','Familial isolated hypoparathyroidism due to agenesis of parathyroid gland','Clinical subtype','X-linked recessive hypoparathyroidism (XLHPT) is a very rare cause of hypoparathyroidism. It has been reported in two multigeneration families from Missouri. Affected males suffer from true neonatal idiopathic hypoparathyroidism leading to severe hypocalcemia with undetectable parathyroid hormone levels and epilepsy. They are also sterile. Carrier females are normocalcemic and asymptomatic. XLHPT is caused by congenital parathyroid gland agenesis. The XLHPT locus has been mapped to chromosome Xq26-q27, in a 1.5 Mb interval flanked by markers F9 and DXS984. Neonatal onset and parathyroid agenesis found at autopsy in one of the patients suggest that the gene involved in XLHPT plays a role in parathyroid gland development.'),('224','Neonatal diabetes mellitus','Category','Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.'),('2241','Megacystis-microcolon-intestinal hypoperistalsis syndrome','Malformation syndrome','Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.'),('2243','Hypopituitarism-micropenis-cleft lip/palate syndrome','Malformation syndrome','no definition available'),('2244','Hypopituitarism-microphthalmia syndrome','Malformation syndrome','no definition available'),('2245','OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome','Malformation syndrome','no definition available'),('2246','Cerebellar hypoplasia-tapetoretinal degeneration syndrome','Malformation syndrome','Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.'),('2248','Hypoplastic left heart syndrome','Morphological anomaly','A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.'),('2249','Ulna hypoplasia-intellectual disability syndrome','Malformation syndrome','Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.'),('225','Maternally-inherited diabetes and deafness','Disease','Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.'),('2250','Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome','Disease','This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.'),('2251','Thumb deformity-alopecia-pigmentation anomaly syndrome','Malformation syndrome','Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of `raindrop` depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.'),('225123','Hemochromatosis type 3','Disease','Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.'),('225147','Sporadic infantile bilateral striatal necrosis','Disease','Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.'),('225154','Familial infantile bilateral striatal necrosis','Disease','Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.'),('2252','Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome','Malformation syndrome','Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.'),('2253','Foveal hypoplasia-presenile cataract syndrome','Disease','Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.'),('2254','Pontocerebellar hypoplasia type 1','Malformation syndrome','Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman`s disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.'),('2255','Pancreatic hypoplasia-diabetes-congenital heart disease syndrome','Disease','Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).'),('2256','Fibulo-ulnar hypoplasia-renal anomalies syndrome','Malformation syndrome','Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.'),('225681','Lysosomal disease with epilepsy','Category','no definition available'),('225686','Peroxisomal disease with epilepsy','Category','no definition available'),('225689','Amino acid or protein metabolism disease with epilepsy','Category','no definition available'),('225692','Metal transport or utilization disorder with epilepsy','Category','no definition available'),('225696','Energy metabolism disorder with epilepsy','Category','no definition available'),('2257','Primary pulmonary hypoplasia','Malformation syndrome','Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.'),('225700','Mitochondrial disease with epilepsy','Category','no definition available'),('225703','Mitochondrial disease with peripheral neuropathy','Category','no definition available'),('225707','Metabolic neurotransmission anomaly with epilepsy','Category','no definition available'),('225710','Sterol metabolism disorder with epilepsy','Category','no definition available'),('225713','Other metabolic disease with epilepsy','Category','no definition available'),('2258','Congenital unilateral pulmonary hypoplasia','Disease','no definition available'),('225968','OBSOLETE: Inherited predisposition to essential thrombocythemia','Disease','no definition available'),('226','Dihydropteridine reductase deficiency','Clinical subtype','Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.'),('2260','Oligomeganephronia','Morphological anomaly','Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia (see this term), characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.'),('2261','Hypospadias-intellectual disability, Goldblatt type syndrome','Malformation syndrome','Hypospasdias – intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.'),('226292','Permanent congenital hypothyroidism','Category','Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth.'),('226295','Primary congenital hypothyroidism','Clinical group','Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.'),('226298','Central congenital hypothyroidism','Clinical group','Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.'),('226307','Hypothyroidism due to deficient transcription factors involved in pituitary development or function','Disease','Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.'),('226310','Peripheral hypothyroidism','Clinical group','Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.'),('226313','Congenital hypothyroidism due to maternal intake of antithyroid drugs','Disease','Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.'),('226316','Genetic transient congenital hypothyroidism','Disease','Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.'),('2266','Hypotrichosis-intellectual disability, Lopes type','Disease','A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.'),('2267','OBSOLETE: Ichthyosis-cheek-eyebrow syndrome','Disease','no definition available'),('2268','ICF syndrome','Malformation syndrome','The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.'),('2269','Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome','Disease','Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.'),('227','Diphallia','Morphological anomaly','A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.'),('2271','Congenital ichthyosis-microcephalus-tetraplegia syndrome','Disease','no definition available'),('2272','Ichthyosis-oral and digital anomalies syndrome','Malformation syndrome','Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.'),('2273','Ichthyosis follicularis-alopecia-photophobia syndrome','Disease','Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.'),('2274','Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome','Disease','Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.'),('227510','Multiple system atrophy, cerebellar type','Clinical subtype','Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).'),('227535','Hereditary breast cancer','Disease','no definition available'),('227786','OBSOLETE: Familial flecked retinopathy','Category','no definition available'),('227796','Fundus albipunctatus','Disease','Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.'),('2278','Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome','Malformation syndrome','Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.'),('227972','Toxic oil syndrome','Disease','Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.'),('227976','Autosomal recessive optic atrophy, OPA7 type','Disease','A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.'),('227982','Autoimmune polyendocrinopathy type 3','Disease','A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.'),('227990','Autoimmune polyendocrinopathy type 4','Disease','no definition available'),('228000','Idiopathic CD4 lymphocytopenia','Biological anomaly','Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.'),('228003','Severe combined immunodeficiency due to CORO1A deficiency','Disease','no definition available'),('228012','Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome','Disease','Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.'),('228113','Anal fistula','Particular clinical situation in a disease or syndrome','no definition available'),('228116','Hughes-Stovin syndrome','Disease','Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet`s disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.'),('228119','Fusariosis','Disease','Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.'),('228123','Coccidioidomycosis','Disease','Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and C. posadasii, which is endemic to the Southwestern United States, Central America, South America and Mexico, and is acquired by inhalation of the infective arthroconidia, often found in soil. In most cases it is a benign, self-limiting febrile illness, but in a minority of cases it can become a potentially lethal infection of the lungs and, extremely rarely, spread to other organs (through hematogenous dissemination) with manifestations including meningitis, osteomyelitis, and skin and soft-tissue involvement.'),('228140','Idiopathic ventricular fibrillation, non Brugada type','Disease','A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.'),('228145','Multiple sclerosis variant','Category','no definition available'),('228157','Marburg acute multiple sclerosis','Disease','Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.'),('228165','Baló concentric sclerosis','Disease','A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia.'),('228169','Autosomal dominant striatal neurodegeneration','Disease','An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.'),('228174','Autosomal dominant Charcot-Marie-Tooth disease type 2N','Disease','A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.'),('228179','Autosomal dominant Charcot-Marie-Tooth disease type 2M','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy, characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.'),('228184','Heart-hand syndrome','Category','Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms).'),('228190','Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome','Malformation syndrome','Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.'),('2282','Dysmorphism-short stature-deafness-disorder of sex development syndrome','Malformation syndrome','Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.'),('228215','Genetic dermis elastic tissue disorder','Category','no definition available'),('228218','Acquired dermis elastic tissue disorder','Category','no definition available'),('228221','Acquired dermis elastic tissue disorder with decreased elastic tissue','Category','no definition available'),('228224','Acquired dermis elastic tissue disorder with increased elastic tissue','Category','no definition available'),('228227','Late-onset focal dermal elastosis','Disease','Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.'),('228236','Linear focal elastosis','Disease','Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.'),('228240','Elastoderma','Disease','An extremely rare, acquired, dermis elastic tissue disorder characterized by localized increased skin laxity associated with delayed skin recoil, typically ocurring on the elbows, knees and/or neck. Histologically, focal abundace of elastic tissue in the dermis with pleomorphic and fragmented elastic fibers, without calcification, is observed.'),('228243','Elastofibroma dorsi','Disease','Elastofibroma dorsi is a rare, acquired, dermis elastic tissue disorder characterized by a benign, slowly progressive, often bilateral, non-encapsulated lesion, usually presenting as an ill-defined mass under the inferior angle of the scapula (but other locations have been reported), which adheres to the deep layers and presents no local signs of inflammation. It is commonly asymptomatic and discovered inadvertently, but symptoms may include pain and discomfort or stiffness when using the shoulder. The presence of a firm mass masked by the scapula during retropulsion of the shoulder and becoming prominent when the shoulder is displaced toward the front is a frequent sign. Neuromuscular involvement of the upper limb may occur in rare cases.'),('228247','Acquired pseudoxanthoma elasticum','Disease','no definition available'),('228254','Elastoma','Disease','A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.'),('228264','Papular elastorrhexis','Disease','A rare, acquired, dermis elastic tissue disorder characterized by multiple, asymptomatic, firm, well-demarcated, nonfollicular, hypopigmented or skin-colored papules, with a diameter of less than 1 cm, distributed symmetrically over trunk and/or proximal limbs (rarely, head, neck, shoulders, armpits, thighs), with no extracutaneous manifestations. Histopathology typically reveals decreased and fragmented elastic fibers, thickened and/or homogenized collagen bundles and, in some, a mild, perivascular, lymphocytic infiltrate in the dermis.'),('228272','Primary anetoderma','Disease','Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.'),('228277','Familial anetoderma','Disease','Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.'),('228285','Acquired cutis laxa','Disease','no definition available'),('228290','White fibrous papulosis of the neck','Disease','White fibrous papulosis of the neck is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.'),('228293','Pseudoxanthoma elasticum-like papillary dermal elastolysis','Disease','Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.'),('228299','Mid-dermal elastolysis','Disease','A rare, acquired, dermis elastic tissue disease characterized by asymptomatic, well-demarcated, symmetric patches and/or plaques of finely wrinkled skin arranged parallel to skin cleavage lines (type I), associated with perifollicular papular protrusions (type II) or with persistent reticular erythema (type III), occurring predominantly on the shoulders, trunk, back, and proximal extremities, associating, on histopathology, a selective loss of elastic tissue in the midreticular dermis. Erythema and/or urticaria may or may not precede wrinkly lesions.'),('228302','Carnitine palmitoyl transferase II deficiency, myopathic form','Clinical subtype','The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).'),('228305','Carnitine palmitoyl transferase II deficiency, severe infantile form','Clinical subtype','The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.'),('228308','Carnitine palmitoyl transferase II deficiency, neonatal form','Clinical subtype','The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.'),('228312','Autoimmune hemolytic anemia, cold type','Clinical group','Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms).'),('228315','OBSOLETE: Idiopathic hypersomnia with long sleep time','Clinical subtype','no definition available'),('228318','OBSOLETE: Idiopathic hypersomnia without long sleep time','Clinical subtype','no definition available'),('228329','CLN1 disease','Etiological subtype','no definition available'),('228337','CLN10 disease','Etiological subtype','no definition available'),('228340','CLN4A disease','Etiological subtype','no definition available'),('228343','CLN4B disease','Etiological subtype','no definition available'),('228346','CLN3 disease','Etiological subtype','no definition available'),('228349','CLN2 disease','Etiological subtype','no definition available'),('228354','CLN8 disease','Etiological subtype','no definition available'),('228357','CLN9 disease','Etiological subtype','no definition available'),('228360','CLN5 disease','Etiological subtype','no definition available'),('228363','CLN6 disease','Etiological subtype','no definition available'),('228366','CLN7 disease','Etiological subtype','no definition available'),('228371','Foodborne botulism','Clinical subtype','Foodborne botulism is the most common form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.'),('228374','Charcot-Marie-Tooth disease type 2B5','Disease','A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.'),('228379','Virus-associated trichodysplasia spinulosa','Disease','Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.'),('228384','5q14.3 microdeletion syndrome','Malformation syndrome','The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.'),('228387','Spondylo-megaepiphyseal-metaphyseal dysplasia','Disease','Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.'),('228390','Frontonasal dysplasia-alopecia-genital anomalies syndrome','Malformation syndrome','Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.'),('228396','Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome','Malformation syndrome','Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.'),('228399','8q12 microduplication syndrome','Malformation syndrome','The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).'),('2284','OBSOLETE: Primary T cell immunodeficiency','Disease','no definition available'),('228402','2q23.1 microdeletion syndrome','Malformation syndrome','The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.'),('228407','Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome','Malformation syndrome','no definition available'),('228410','Polyvalvular heart disease syndrome','Malformation syndrome','Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.'),('228415','5q35 microduplication syndrome','Malformation syndrome','The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.'),('228418','OBSOLETE: Microcephaly-seizures-developmental delay syndrome','Disease','no definition available'),('228423','Monocytopenia with susceptibility to infections','Disease','Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.'),('228426','Syndromic multisystem autoimmune disease due to Itch deficiency','Disease','Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.'),('228429','Generalized congenital lipodystrophy with myopathy','Disease','no definition available'),('2285','Primary basilar invagination','Morphological anomaly','Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.'),('2286','OBSOLETE: Solitary median maxillary central incisor syndrome','Clinical subtype','no definition available'),('2287','Fused mandibular incisors','Morphological anomaly','Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure.'),('2289','Neuronal intranuclear inclusion disease','Disease','Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.'),('229','Familial aortic dissection','Disease','Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.'),('2290','Microvillus inclusion disease','Disease','Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.'),('2291','Congenital velopharyngeal incompetence','Morphological anomaly','no definition available'),('2292','Congenital bowing of long bones','Malformation syndrome','Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.'),('2295','Familial articular hypermobility syndrome','Disease','A rare, genetic, dermis elastic tissue disease characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.'),('2297','Insulin-resistance syndrome type A','Disease','Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.'),('229717','Isolated agammaglobulinemia','Disease','Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.'),('229720','Syndromic agammaglobulinemia','Category','no definition available'),('2298','Insulin-resistance syndrome type B','Disease','A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.'),('2299','Aortic arch interruption','Morphological anomaly','A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.'),('23','Argininosuccinic aciduria','Disease','A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.'),('230','Dopamine beta-hydroxylase deficiency','Disease','Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.'),('2300','Multiple intestinal atresia','Morphological anomaly','Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.'),('2301','Congenital short bowel syndrome','Morphological anomaly','Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.'),('2302','Asbestos intoxication','Disease','A rare pneumoconiosis caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers.'),('2305','Isotretinoin syndrome','Malformation syndrome','Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.'),('2306','Isotretinoin-like syndrome','Malformation syndrome','Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.'),('2307','IVIC syndrome','Malformation syndrome','IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.'),('2308','Jacobsen syndrome','Malformation syndrome','A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.'),('230800','Toxin-mediated infectious botulism','Clinical subtype','Infectious botulism is a form of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism; see these terms).'),('230839','Classical-like Ehlers-Danlos syndrome type 1','Disease','Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.'),('230845','Vascular-like classical Ehlers-Danlos syndrome','Disease','no definition available'),('230851','Cardiac-valvular Ehlers-Danlos syndrome','Disease','A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.'),('230857','Ehlers-Danlos/osteogenesis imperfecta syndrome','Disease','A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.'),('2309','Pachyonychia congenita','Disease','Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.'),('231','Dracunculiasis','Disease','Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).'),('2310','Absence deformity of leg-cataract syndrome','Malformation syndrome','A very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.'),('231013','Congenital trigeminal anesthesia','Disease','Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).'),('231031','Erythema palmare hereditarium','Disease','Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.'),('231040','Familial generalized lentiginosis','Disease','Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.'),('231080','High-grade dysplasia in patients with Barrett esophagus','Particular clinical situation in a disease or syndrome','no definition available'),('2311','Autosomal recessive spondylocostal dysostosis','Malformation syndrome','A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.'),('231108','Familial rhabdoid tumor','Clinical subtype','no definition available'),('231111','Drug-induced lupus erythematosus','Disease','A rare, systemic disease with skin involvement characterized by the onset of idiopathic lupus erythematosus-like signs and symptoms resulting from continuous drug intake (>1 month), which resolve when treatment is discontinued, in persons with no history of autoimmune disease. Manifestations are variable and may be systemic (e.g. arthralgia, myalgia, fever, fatigue, serositis, pleuritis, pericarditis), subacute cutaneous (incl. photosensitive, non-scarring, annular, polycyclic or papulosquamous lesions, malar erythema, vasculitis, bullous lesions, erythema multiforme-like changes), and/or chronic cutaneous (typically discoid lesions in sun-exposed areas). Procainamide and hydrazaline are the drugs most frequently implicated.'),('231117','Beckwith-Wiedemann syndrome due to imprinting defect of 11p15','Etiological subtype','no definition available'),('231120','Beckwith-Wiedemann syndrome due to CDKN1C mutation','Etiological subtype','no definition available'),('231127','Beckwith-Wiedemann syndrome due to 11p15 microdeletion','Etiological subtype','no definition available'),('231130','Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion','Etiological subtype','no definition available'),('231137','Silver-Russell syndrome due to 7p11.2p13 microduplication','Etiological subtype','no definition available'),('231140','Silver-Russell syndrome due to an imprinting defect of 11p15','Etiological subtype','no definition available'),('231144','Silver-Russell syndrome due to 11p15 microduplication','Etiological subtype','no definition available'),('231147','Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11','Etiological subtype','no definition available'),('231154','Combined immunodeficiency due to partial RAG1 deficiency','Disease','Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.'),('231160','Familial cerebral saccular aneurysm','Disease','A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.'),('231169','Usher syndrome type 1','Clinical subtype','no definition available'),('231178','Usher syndrome type 2','Clinical subtype','no definition available'),('231183','Usher syndrome type 3','Clinical subtype','no definition available'),('2312','Transient familial neonatal hyperbilirubinemia','Disease','A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.'),('231205','OBSOLETE: Common variable immunodeficiency without known genetic defect','Etiological subtype','no definition available'),('231214','Beta-thalassemia major','Clinical subtype','Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.'),('231222','Beta-thalassemia intermedia','Clinical subtype','Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion.'),('231226','Dominant beta-thalassemia','Clinical subtype','Dominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.'),('231230','Beta-thalassemia associated with another hemoglobin anomaly','Category','Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)].'),('231237','Delta-beta-thalassemia','Disease','Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.'),('231242','Hemoglobin C-beta-thalassemia syndrome','Disease','Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.'),('231249','Hemoglobin E-beta-thalassemia syndrome','Disease','Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).'),('231256','Beta-thalassemia-trichothiodystrophy syndrome','Disease','no definition available'),('231386','Beta-thalassemia with other manifestations','Category','Beta-thalassemias with other manifestations are a group of beta-thalassemias (see this term) associated with another disorder.'),('231393','Beta-thalassemia-X-linked thrombocytopenia syndrome','Disease','Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.'),('2314','Autosomal dominant hyper-IgE syndrome','Disease','A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.'),('231401','Alpha-thalassemia-myelodysplastic syndrome','Disease','An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).'),('231413','Variant of Guillain-Barré syndrome','Category','no definition available'),('231416','Regional variant of Guillain-Barré syndrome','Clinical group','no definition available'),('231419','Functional variant of Guillain-Barré syndrome','Clinical group','no definition available'),('231426','Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome','Disease','Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated.'),('231445','Paraparetic variant of Guillain-Barré syndrome','Disease','Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.'),('231450','Acute pure sensory neuropathy','Disease','A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.'),('231457','Acute pandysautonomia','Disease','A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.'),('231466','Acute sensory ataxic neuropathy','Disease','A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.'),('2315','Johanson-Blizzard syndrome','Malformation syndrome','Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.'),('231500','Hermansky-Pudlak syndrome with pulmonary fibrosis','Clinical subtype','Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.'),('231512','Hermansky-Pudlak syndrome without pulmonary fibrosis','Clinical subtype','Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.'),('231531','Hermansky-Pudlak syndrome type 7','Clinical subtype','no definition available'),('231537','Hermansky-Pudlak syndrome type 8','Clinical subtype','no definition available'),('231556','Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome','Disease','Late-onset localized jonctional epidermolysis bullosa-intellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.'),('231568','Generalized dominant dystrophic epidermolysis bullosa','Disease','Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.'),('231573','Congenital erosive and vesicular dermatosis','Disease','Congenital erosive and vesicular dermatosis is a rare, idiopathic skin disease characterized by widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohydrosis. Nail anomalies, neurodevelopmental and ophtalmologic abnormalities, tongue atrophy and preterm birth, with or without history of choriomnionitis, are commonly associated.'),('231580','Primary unilateral adrenal hyperplasia','Disease','Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA; see this term) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.'),('2316','Johnson neuroectodermal syndrome','Malformation syndrome','Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.'),('231625','Adrenocortical carcinoma with pure aldosterone hypersecretion','Disease','A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.'),('231632','Ectopic aldosterone-producing tumor','Disease','Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.'),('231637','Rare surgically correctable form of primary aldosteronism','Category','Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism; see this term) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.'),('231641','Rare non surgically correctable form of primary aldosteronism','Category','no definition available'),('231662','Isolated growth hormone deficiency type IA','Clinical subtype','no definition available'),('231671','Isolated growth hormone deficiency type IB','Clinical subtype','no definition available'),('231679','Isolated growth hormone deficiency type II','Clinical subtype','no definition available'),('231692','Isolated growth hormone deficiency type III','Clinical subtype','no definition available'),('231720','Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome','Malformation syndrome','Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.'),('231736','Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome','Malformation syndrome','Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.'),('231742','Epibulbar lipodermoid-preauricular appendage-polythelia syndrome','Malformation syndrome','Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.'),('2318','Joubert syndrome with oculorenal defect','Malformation syndrome','A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.'),('2319','Juberg-Hayward syndrome','Malformation syndrome','Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.'),('232','Sickle cell anemia','Disease','Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.'),('232035','Infectious embryofetopathy','Category','no definition available'),('2321','Jung syndrome','Malformation syndrome','A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.'),('2322','Kabuki syndrome','Malformation syndrome','Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.'),('232288','Alpha-thalassemia-related diseases','Category','This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*'),('2323','Sanjad-Sakati syndrome','Malformation syndrome','Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.'),('2324','Osteopenia-intellectual disability-sparse hair syndrome','Malformation syndrome','Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.'),('2325','Epidermolysis bullosa simplex with anodontia/hypodontia','Malformation syndrome','no definition available'),('2326','Kallmann syndrome-heart disease syndrome','Malformation syndrome','Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.'),('2328','Kapur-Toriello syndrome','Malformation syndrome','Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.'),('2329','Karsch-Neugebauer syndrome','Malformation syndrome','Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.'),('233','Duane retraction syndrome','Malformation syndrome','A congenital form of strabismus characterized by limited horizontal eye movement accompanied by globe retraction and palpebral fissure narrowing on attempted adduction. It is an ocular congenital cranial dysinnervation disorder (CCDD) and can lead to amblyopia.'),('2330','Kasabach-Merritt syndrome','Disease','Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.'),('2331','Kawasaki disease','Disease','A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.'),('2332','KBG syndrome','Malformation syndrome','KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.'),('2333','Kenny-Caffey syndrome','Malformation syndrome','A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. Additonal manifestations include ocular and dental anomalies (e.g. corneal opacity, hyperopia, optic atrophy, tortuous retinal vessels, dental caries, enamel defects) and, occasionally, hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive, with more severe growth retardation, small hands and feet, intellectual disability, microcephaly and recurrent bacterial infections being observed in the latter.'),('2334','Autosomal dominant keratitis','Disease','Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.'),('2335','NON RARE IN EUROPE: Isolated keratoconus','Disease','no definition available'),('233655','Rare genetic vascular disease','Category','no definition available'),('2337','Non-epidermolytic palmoplantar keratoderma','Disease','A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes.'),('2338','Isolated punctate palmoplantar keratoderma','Clinical group','no definition available'),('2339','Keratosis follicularis-dwarfism-cerebral atrophy syndrome','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.'),('234','Dubin-Johnson syndrome','Disease','Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.'),('2340','Keratosis follicularis spinulosa decalvans','Disease','Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.'),('2342','Haim-Munk syndrome','Disease','Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.'),('2343','Isolated cloverleaf skull syndrome','Morphological anomaly','A form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.'),('2345','Isolated Klippel-Feil syndrome','Malformation syndrome','Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.'),('2346','Angioosteohypertrophic syndrome','Disease','A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.'),('2347','Lethal Kniest-like dysplasia','Malformation syndrome','A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a `Swiss cheese` appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.'),('2348','Familial partial lipodystrophy, Dunnigan type','Disease','A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.'),('2349','Muscular pseudohypertrophy-hypothyroidism syndrome','Disease','Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term).'),('235','Dubowitz syndrome','Malformation syndrome','Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.'),('2351','Kousseff syndrome','Malformation syndrome','Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11 (see this term).'),('2352','Kozlowski-Brown-Hardwick syndrome','Disease','no definition available'),('2353','Schilbach-Rott syndrome','Malformation syndrome','Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.'),('2355','Kumar-Levick syndrome','Malformation syndrome','no definition available'),('2356','Arachnoid cyst','Morphological anomaly','A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.'),('2357','Bronchogenic cyst','Morphological anomaly','Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.'),('235832','Congenital vascular bone syndrome','Clinical group','no definition available'),('235835','OBSOLETE: Congenital vascular bone syndrome with limb overgrowth','Clinical group','no definition available'),('235838','OBSOLETE: Congenital vascular bone syndrome with limb shortening','Clinical group','no definition available'),('235936','Familial hyperaldosteronism','Clinical group','Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.'),('236','Trisomy 9p','Malformation syndrome','Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.'),('2363','Lacrimoauriculodentodigital syndrome','Malformation syndrome','Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.'),('2364','Glycogen storage disease due to lactate dehydrogenase deficiency','Disease','no definition available'),('2368','Gastroschisis','Morphological anomaly','A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.'),('2369','Limb body wall complex','Malformation syndrome','Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.'),('237','Duplication of urethra','Morphological anomaly','Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.'),('2370','Larsen-like osseous dysplasia-short stature syndrome','Malformation syndrome','Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.'),('2371','Lethal Larsen-like syndrome','Malformation syndrome','Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.'),('2372','Laryngocele','Malformation syndrome','A rare congenital laryngeal anomaly characterized by an abnormal dilation of the laryngeal saccule that is filled with air, maintains communication with the laryngeal lumen, and is either confined to the false vocal fold or extends upward, protruding through the thyrohyoid membrane to the neck. Symptoms may include cough, hoarseness, stridor, sore throat and uni- or bilateral swelling of the neck. Blockage of the laryngocele neck can result isn laryngomucocele, and forms laryngopyocele when infected.'),('2373','Congenital laryngomalacia','Malformation syndrome','A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.'),('2374','Congenital laryngeal web','Malformation syndrome','A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.'),('2375','Laryngeal abductor paralysis-intellectual disability syndrome','Malformation syndrome','Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.'),('2377','Laurence-Moon syndrome','Malformation syndrome','A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.'),('2378','Laurin-Sandrow syndrome','Malformation syndrome','Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.'),('2379','Early-onset parkinsonism-intellectual disability syndrome','Disease','A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.'),('238','Digestive duplication','Morphological anomaly','Digestive duplication is a rare developmental defect during embryogenesis characterized by cystic, spherical or tubular structures (communicating or not with the lumen), located on a segment of the digestive tract (from the mouth cavity to anus), and constituted of a wall with a double smooth muscle layer and a digestive mucosa. The malformation may be asymptomatic or manifest with various signs including abdominal mass, abdominal pain, transit troubles or subocclusive syndrome. Mild digestive hemorrhage, perforation, pancreatitis and neonatal respiratory distress are possible complications.'),('2380','Legg-Calvé-Perthes disease','Disease','A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.'),('2382','Lennox-Gastaut syndrome','Disease','A rare syndrome that belongs to the group of severe childhood epileptic encephalopathies.'),('238269','AApoAII amyloidosis','Clinical subtype','no definition available'),('238305','Infundibulo-neurohypophysitis','Disease','Infundibulo-neurohypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the posterior pituitary and the stalk. The major clinical manifestation is diabetes insipidus with polyuria and polydipsia. Less frequent symptoms are headaches, adrenal insufficiency, hyperprolactinemia and hypogonadism.'),('238329','Severe X-linked mitochondrial encephalomyopathy','Disease','Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.'),('238446','15q11q13 microduplication syndrome','Malformation syndrome','The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.'),('238455','Infantile dystonia-parkinsonism','Disease','Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.'),('238459','SLC35A1-CDG','Disease','SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.'),('238468','Hypohidrotic ectodermal dysplasia','Disease','Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms).'),('238475','Familial hypercholanemia','Disease','Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.'),('238505','Combined immunodeficiency due to CD27 deficiency','Disease','A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.'),('238510','Lymphoproliferative syndrome','Clinical group','no definition available'),('238517','Hypotonia-cystinuria type 1 syndrome','Clinical group','no definition available'),('238523','Atypical hypotonia-cystinuria syndrome','Disease','A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).'),('238536','Congenital secondary polycythemia','Category','no definition available'),('238547','Acquired secondary polycythemia','Category','no definition available'),('238557','Chuvash erythrocytosis','Disease','Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.'),('238569','Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome','Disease','A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.'),('238578','Familial clubfoot due to 17q23.1q23.2 microduplication','Etiological subtype','17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.'),('238583','Hyperphenylalaninemia due to tetrahydrobiopterin deficiency','Disease','Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA; see this term) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.'),('238593','IgG4-related mesenteritis','Disease','Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).'),('2386','Leukoencephalopathy-palmoplantar keratoderma syndrome','Disease','Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.'),('238606','Primary orthostatic tremor','Disease','Primary orthostatic tremor (POT), or ``shaky legs syndrome``, is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.'),('238613','Beckwith-Wiedemann syndrome due to NSD1 mutation','Etiological subtype','no definition available'),('238616','NON RARE IN EUROPE: Alzheimer disease','Disease','no definition available'),('238621','Ileal pouch anal anastomosis related faecal incontinence','Particular clinical situation in a disease or syndrome','no definition available'),('238624','Idiopathic intracranial hypertension','Disease','Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.'),('238637','Megacystis-megaureter syndrome','Disease','Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.'),('238642','Primary megaureter, adult-onset form','Clinical subtype','no definition available'),('238646','Congenital primary megaureter, obstructed form','Clinical subtype','no definition available'),('238650','Congenital primary megaureter, refluxing form','Clinical subtype','no definition available'),('238654','Congenital primary megaureter, nonrefluxing and unobstructed form','Clinical subtype','no definition available'),('238666','Isolated congenital hypogonadotropic hypogonadism','Disease','A rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).'),('238670','Isolated thyrotropin-releasing hormone deficiency','Disease','no definition available'),('238688','Neonatal iodine exposure','Disease','Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.'),('238691','OBSOLETE: Congenital liver hemangioma','Disease','no definition available'),('238696','Transient congenital hypothyroidism due to maternal factor','Category','no definition available'),('238699','Transient congenital hypothyroidism due to neonatal factor','Category','no definition available'),('2387','Leukonychia totalis','Disease','Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.'),('238722','Familial congenital mirror movements','Disease','A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities.'),('238744','Mammary-digital-nail syndrome','Malformation syndrome','Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.'),('238750','4q21 microdeletion syndrome','Malformation syndrome','The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.'),('238755','Autosomal dominant limb-girdle muscular dystrophy type 1H','Disease','A rare subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.'),('238763','Glaucoma secondary to spherophakia/ectopia lentis and megalocornea','Malformation syndrome','Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.'),('238766','Ptosis-syndactyly-learning difficulties syndrome','Malformation syndrome','no definition available'),('238769','1q44 microdeletion syndrome','Malformation syndrome','1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.'),('2388','Choreoacanthocytosis','Disease','Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.'),('2389','Lewis-Pashayan syndrome','Malformation syndrome','no definition available'),('239','Dyggve-Melchior-Clausen disease','Disease','A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)'),('2390','Lichtenstein syndrome','Disease','Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.'),('2391','Congenitally short costocoracoid ligament','Malformation syndrome','Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.'),('2394','Pyruvate dehydrogenase E3 deficiency','Clinical subtype','Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.'),('2396','Encephalocraniocutaneous lipomatosis','Disease','A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.'),('2398','Multiple symmetric lipomatosis','Disease','A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck, with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).'),('2399','Nasopalpebral lipoma-coloboma syndrome','Malformation syndrome','Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.'),('24','Fumaric aciduria','Disease','Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.'),('240','Léri-Weill dyschondrosteosis','Malformation syndrome','A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.'),('2400','Peripheral motor neuropathy-dysautonomia syndrome','Disease','Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.'),('240071','Classic progressive supranuclear palsy syndrome','Clinical subtype','Classical progressive supranuclear palsy, also known as Richardson`s syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.'),('240085','Progressive supranuclear palsy-parkinsonism syndrome','Clinical subtype','PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.'),('240094','Progressive supranuclear palsy-pure akinesia with gait freezing syndrome','Clinical subtype','PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.'),('240103','Progressive supranuclear palsy-corticobasal syndrome','Clinical subtype','PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease.'),('240112','Progressive supranuclear palsy-progressive non-fluent aphasia syndrome','Clinical subtype','PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.'),('240266','OBSOLETE: Systemic non-Langerhans cell histiocytosis','Clinical group','no definition available'),('240371','Syndromic obesity','Category','no definition available'),('2404','Loiasis','Disease','Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (``African eye worm``) and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).'),('2405','Thickened earlobes-conductive deafness syndrome','Malformation syndrome','Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.'),('2406','Locked-in syndrome','Disease','Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.'),('2407','LOC syndrome','Disease','LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.'),('240760','Nijmegen breakage syndrome-like disorder','Malformation syndrome','Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.'),('2408','Lowe-Kohn-Cohen syndrome','Malformation syndrome','Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.'),('2409','Lowry-MacLean syndrome','Malformation syndrome','Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.'),('241','Dyschromatosis universalis hereditaria','Disease','A rare, genetic, pigmentation anomaly of the skin characterized by generalized, irregularly shaped, asymptomatic, hyper- and hypopigmented macules distributed in a reticular pattern involving the trunk, limbs, and sometimes the face. The palms, soles and mucosa are usually not affected. Systemic abnormalities have been rarely reported.'),('2410','Hypergonadotropic hypogonadism-cataract syndrome','Malformation syndrome','This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.'),('2412','Dislocation of the hip-dysmorphism syndrome','Malformation syndrome','Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.'),('2414','Congenital pulmonary lymphangiectasia','Disease','A rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.'),('2415','Rare lymphatic malformation','Category','no definition available'),('2416','Congenital primary lymphedema without systemic or visceral involvement','Clinical group','no definition available'),('2419','Lymphedema-ptosis syndrome','Malformation syndrome','no definition available'),('242','46,XY complete gonadal dysgenesis','Malformation syndrome','A rare disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.'),('2420','Primary pulmonary lymphoma','Disease','A rare neoplastic disease defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).'),('2427','Macrocephaly-short stature-paraplegia syndrome','Malformation syndrome','Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.'),('2429','Macrocephaly-spastic paraplegia-dysmorphism syndrome','Malformation syndrome','Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.'),('243','46,XX gonadal dysgenesis','Malformation syndrome','46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.'),('2430','Congenital macroglossia','Malformation syndrome','A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.'),('2431','Central bilateral macrogyria','Disease','A neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy.'),('2432','Macrosomia-microphthalmia-cleft palate syndrome','Malformation syndrome','Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.'),('243343','Dimethylglycine dehydrogenase deficiency','Disease','Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.'),('243367','Acute fatty liver of pregnancy','Disease','A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.'),('243377','NON RARE IN EUROPE: Diabetes mellitus type 1','Disease','no definition available'),('2435','Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome','Disease','Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.'),('2437','Czeizel-Losonci syndrome','Malformation syndrome','Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.'),('243761','NON RARE IN EUROPE: Essential hypertension','Disease','no definition available'),('2438','Hand-foot-genital syndrome','Malformation syndrome','Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.'),('2439','Patterson-Stevenson-Fontaine syndrome','Malformation syndrome','Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.'),('244','Primary ciliary dyskinesia','Disease','A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).'),('2440','Isolated split hand-split foot malformation','Malformation syndrome','Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.'),('2442','X-linked lymphoproliferative disease','Clinical group','no definition available'),('244242','HELLP syndrome','Disease','A rare hemorrhagic disorder due to an acquired platelet anomaly characterized by hemolysis, elevated liver enzymes and thrombocytopenia that affects pregnant or post-partum women, and is frequently associated with severe preeclampsia. Symptoms are variable, typically including right upper quadrant or epigastric abdominal pain, nausea, vomiting, excessive weight gain, generalized edema, hypertension, general malaise, right shoulder pain, backache, and/or headache. Hepatic hemorrhage and rupture, renal failure, and pulmonary edema can result in maternal and/or fetal death.'),('244283','Biliary atresia with splenic malformation syndrome','Malformation syndrome','Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.'),('2443','Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies','Category','Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis (see these terms).'),('244305','Dominant hypophosphatemia with nephrolithiasis or osteoporosis','Disease','A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.'),('244310','RFT1-CDG','Disease','RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).'),('2444','Congenital pulmonary airway malformation','Malformation syndrome','no definition available'),('2445','Conotruncal heart malformations','Category','A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).'),('2447','Congenital mitral malformation','Category','no definition available'),('245','Nager syndrome','Malformation syndrome','A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.'),('2451','Mucocutaneous venous malformations','Malformation syndrome','Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.'),('2452','OBSOLETE: Vascular malposition','Clinical group','no definition available'),('2453','Malpuech syndrome','Malformation syndrome','no definition available'),('2454','OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome','Malformation syndrome','no definition available'),('2456','Familial supernumerary nipples','Morphological anomaly','Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.'),('2457','Mandibuloacral dysplasia','Malformation syndrome','Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.'),('2458','OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome','Malformation syndrome','no definition available'),('2459','Mansonelliasis','Disease','Mansonellosis is a mild form of filariasis (see this term), distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis (see this term)), severe abdominal pain and endocrine disturbances.'),('246','Postaxial acrofacial dysostosis','Malformation syndrome','Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.'),('2460','Van den Ende-Gupta syndrome','Malformation syndrome','Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.'),('2461','Marden-Walker syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.'),('2462','Shprintzen-Goldberg syndrome','Malformation syndrome','Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.'),('2463','Marfanoid habitus-autosomal recessive intellectual disability syndrome','Malformation syndrome','Marfanoid habitus – intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.'),('2464','Marfanoid syndrome, De Silva type','Malformation syndrome','A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.'),('2466','MASA syndrome','Clinical subtype','A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.'),('2467','Systemic mastocytosis','Clinical group','A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.'),('247','Arrhythmogenic right ventricular cardiomyopathy','Clinical group','A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.'),('2470','Matthew-Wood syndrome','Malformation syndrome','Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.'),('2471','McDonough syndrome','Malformation syndrome','McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.'),('247165','Infantile mercury poisoning','Disease','Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss and insomnia.'),('247198','Progressive cerebello-cerebral atrophy','Disease','no definition available'),('247203','Collecting duct carcinoma','Disease','Collecting duct carcinoma is a rare, aggressive subtype of renal cell carcinoma, which originates from the epithelium of the distal collecting ducts, and usually manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Patients are often asymptomatic for long periods of time and therefore, disease is often locally advanced or metastatic at the time of diagnosis. In cases with metastatic spread, bone pain, cough, dyspnea, pneumonia or neurological compromise may be associated.'),('247234','Sporadic adult-onset ataxia of unknown etiology','Disease','Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.'),('247239','Non-hereditary degenerative ataxia','Category','no definition available'),('247242','Acquired ataxia','Category','no definition available'),('247245','Superficial siderosis','Disease','Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.'),('247257','Inhalational anthrax','Disease','Inhalational anthrax is a rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.'),('247262','Hyperphosphatasia-intellectual disability syndrome','Disease','A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported.'),('2473','McKusick-Kaufman syndrome','Malformation syndrome','McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.'),('247353','Generalized pustular psoriasis','Disease','Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.'),('247378','Autosomal recessive secondary polycythemia not associated with VHL gene','Disease','A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.'),('2474','OBSOLETE: McLain-Dekaban syndrome','Malformation syndrome','no definition available'),('2475','White forelock with malformations','Malformation syndrome','White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.'),('247511','Autosomal dominant secondary polycythemia','Disease','A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.'),('247522','Primary ciliary dyskinesia-retinitis pigmentosa syndrome','Disease','Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.'),('247525','Citrullinemia type I','Disease','Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).'),('247546','Acute neonatal citrullinemia type I','Clinical subtype','A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.'),('247573','Adult-onset citrullinemia type I','Clinical subtype','A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.'),('247582','Citrin deficiency','Category','A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).'),('247585','Citrullinemia type II','Disease','A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.'),('247598','Neonatal intrahepatic cholestasis due to citrin deficiency','Disease','A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.'),('2476','Dysraphism-cleft lip/palate-limb reduction defects syndrome','Malformation syndrome','A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.'),('247604','Juvenile primary lateral sclerosis','Disease','A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.'),('247623','Perinatal lethal hypophosphatasia','Clinical subtype','A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.'),('247638','Prenatal benign hypophosphatasia','Clinical subtype','A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.'),('247651','Infantile hypophosphatasia','Clinical subtype','A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.'),('247667','Childhood-onset hypophosphatasia','Clinical subtype','A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.'),('247676','Adult hypophosphatasia','Clinical subtype','A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.'),('247685','Odontohypophosphatasia','Clinical subtype','A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.'),('247691','Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations','Disease','Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.'),('247698','Multiple endocrine neoplasia type 2A','Clinical subtype','Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.'),('2477','Megalencephaly','Malformation syndrome','A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.'),('247709','Multiple endocrine neoplasia type 2B','Clinical subtype','Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus.'),('247718','Inflammatory myopathy with abundant macrophages','Disease','Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.'),('247724','Idiopathic eosinophilic myositis','Disease','Idiopathic eosinophilic myositis is a rare skeletal muscle disease characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral aquilae retraction, as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.'),('247762','Lipoblastoma','Disease','A rare soft tissue tumor characterized by a lobulated, localized (lipoblastoma) or diffuse (lipoblastomatosis) lesion resembling fetal adipose tissue, composed of mature and immature adipocytes. It is most commonly found during the first years of life and presents as a slowly growing, well circumscribed mass, which may compress adjacent structures, depending on the location. Malignant transformation or metastasis does not occur, while recurrences are described especially in lipoblastomatosis.'),('247765','X-linked cerebellar ataxia','Category','no definition available'),('247768','Müllerian aplasia and hyperandrogenism','Malformation syndrome','no definition available'),('247775','Mayer-Rokitansky-Küster-Hauser syndrome type 1','Clinical subtype','Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.'),('247790','FTH1-related iron overload','Disease','no definition available'),('247794','Juvenile cataract-microcornea-renal glucosuria syndrome','Disease','Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.'),('247798','MUTYH-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('2478','Megalencephalic leukoencephalopathy with subcortical cysts','Disease','Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.'),('247806','APC-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('247815','Autosomal recessive ataxia due to PEX10 deficiency','Disease','no definition available'),('247820','Ectodermal dysplasia-syndactyly syndrome','Malformation syndrome','Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.'),('247827','Ectodermal dysplasia-cutaneous syndactyly syndrome','Malformation syndrome','no definition available'),('247834','Occult macular dystrophy','Disease','Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.'),('247839','Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies','Etiological subtype','no definition available'),('247846','Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies','Etiological subtype','no definition available'),('247854','Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies','Etiological subtype','no definition available'),('247861','Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies','Etiological subtype','no definition available'),('247868','NLRP12-associated hereditary periodic fever syndrome','Disease','NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.'),('247871','OBSOLETE: Vitiligo-associated autoimmune disease','Disease','no definition available'),('2479','Megalocornea-intellectual disability syndrome','Malformation syndrome','Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.'),('248','Autosomal recessive hypohidrotic ectodermal dysplasia','Etiological subtype','no definition available'),('248095','Primary hypertrophic osteoarthropathy','Clinical group','Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy (see these terms).'),('2481','Neurocutaneous melanocytosis','Disease','Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.'),('248111','Juvenile Huntington disease','Disease','Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.'),('2482','Melhem-Fahl syndrome','Malformation syndrome','Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.'),('248293','Rare deficiency anemia','Category','no definition available'),('248296','Constitutional deficiency anemia','Category','no definition available'),('2483','Melkersson-Rosenthal syndrome','Malformation syndrome','The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.'),('248302','Rare acquired deficiency anemia','Category','no definition available'),('248305','OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency','Disease','no definition available'),('248308','Rare hemorrhagic disorder','Category','no definition available'),('248315','Rare hemorrhagic disorder due to a coagulation factors defect','Category','no definition available'),('248326','Rare hemorrhagic disorder due to a platelet anomaly','Category','no definition available'),('248340','Isolated delta-storage pool disease','Disease','Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.'),('248347','Rare hemorrhagic disorder due to an acquired platelet anomaly','Category','no definition available'),('248358','Rare thrombotic disorder due to a coagulation factors defect','Category','no definition available'),('248361','Rare thrombotic disorder due to a constitutional coagulation factors defect','Category','no definition available'),('248365','Rare thrombotic disorder due to an acquired coagulation factors defect','Category','no definition available'),('248368','Rare thrombotic disorder due to a platelet anomaly','Category','no definition available'),('2484','Melnick-Needles syndrome','Malformation syndrome','Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.'),('248401','Rare thrombotic disorder due to a constitutional platelet anomaly','Category','no definition available'),('248404','Rare thrombotic disorder due to an acquired platelet anomaly','Category','no definition available'),('248408','Familial hypodysfibrinogenemia','Clinical subtype','no definition available'),('2485','Melorheostosis','Malformation syndrome','Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.'),('2486','Transverse limb deficiency-hemangioma syndrome','Malformation syndrome','no definition available'),('2487','Lower limb malformation-hypospadias syndrome','Malformation syndrome','Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.'),('2489','Upper limb defect-eye and ear abnormalities syndrome','Malformation syndrome','Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.'),('249','Fibrous dysplasia of bone','Malformation syndrome','A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.'),('2491','Müllerian duct anomalies-limb anomalies syndrome','Malformation syndrome','Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.'),('2492','FATCO syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.'),('2494','Ménétrier disease','Disease','Ménétrier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.'),('2495','Meningioma','Disease','A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.'),('2496','Mesomelia-synostoses syndrome','Malformation syndrome','Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.'),('2497','Upper limb mesomelic dysplasia','Malformation syndrome','This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.'),('2498','Syndactyly type 8','Morphological anomaly','Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.'),('2499','Metachondromatosis','Malformation syndrome','Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.'),('25','Glutaryl-CoA dehydrogenase deficiency','Disease','Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.'),('250','Frontonasal dysplasia','Clinical group','A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow`s peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.'),('2500','Acrogeria','Malformation syndrome','A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.'),('2501','Metaphyseal chondrodysplasia, Spahr type','Disease','A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.'),('250165','Genetic polycythemia','Category','no definition available'),('2502','Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome','Malformation syndrome','Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.'),('2504','Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome','Malformation syndrome','Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.'),('2505','Multiple benign circumferential skin creases on limbs','Disease','no definition available'),('2506','Michels syndrome','Malformation syndrome','no definition available'),('2507','OBSOLETE: Mickleson syndrome','Malformation syndrome','no definition available'),('2508','Corpus callosum agenesis-abnormal genitalia syndrome','Malformation syndrome','Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.'),('250805','Serpinopathy','Category','no definition available'),('250808','Serpinopathy with toxic serpin polymerization','Category','no definition available'),('250811','Serpinopathy with loss of serpin function','Category','no definition available'),('250831','Logopenic progressive aphasia','Disease','Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA; see this term), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.'),('250908','Rare neoplastic disease','Category','no definition available'),('250923','Isolated aniridia','Morphological anomaly','Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.'),('250932','Autosomal dominant optic atrophy and peripheral neuropathy','Disease','A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.'),('250972','Polymicrogyria with optic nerve hypoplasia','Malformation syndrome','Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.'),('250977','AICA-ribosiduria','Disease','An extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.'),('250984','Autosomal recessive Stickler syndrome','Clinical subtype','Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms'),('250989','1q21.1 microdeletion syndrome','Malformation syndrome','1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.'),('250994','1q21.1 microduplication syndrome','Malformation syndrome','1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.'),('250999','1q41q42 microdeletion syndrome','Malformation syndrome','1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.'),('251','Multiple epiphyseal dysplasia','Clinical group','A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.'),('2510','Micro syndrome','Malformation syndrome','Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.'),('251004','Paternal uniparental disomy of chromosome 1','Malformation syndrome','Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('251009','Maternal uniparental disomy of chromosome 1','Malformation syndrome','Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('251014','2q31.1 microdeletion syndrome','Malformation syndrome','2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.'),('251019','2q32q33 microdeletion syndrome','Malformation syndrome','2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.'),('251028','SATB2-associated syndrome due to a chromosomal rearrangement','Etiological subtype','2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.'),('251038','3q29 microduplication syndrome','Malformation syndrome','3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.'),('251043','Ring chromosome 5 syndrome','Malformation syndrome','Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).'),('251046','6p22 microdeletion syndrome','Malformation syndrome','6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.'),('251056','6q25 microdeletion syndrome','Malformation syndrome','6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.'),('251061','7q31 microdeletion syndrome','Malformation syndrome','7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.'),('251066','8p11.2 deletion syndrome','Malformation syndrome','8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.'),('251071','8p23.1 microdeletion syndrome','Malformation syndrome','8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.'),('251076','8p23.1 duplication syndrome','Malformation syndrome','8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).'),('2511','Microbrachycephaly-ptosis-cleft lip syndrome','Malformation syndrome','Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.'),('2512','Autosomal recessive primary microcephaly','Etiological subtype','Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.'),('251262','Familial osteochondritis dissecans','Disease','Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.'),('251274','Familial hyperaldosteronism type III','Disease','Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.'),('251279','Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome','Disease','Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.'),('251282','Autosomal dominant spastic ataxia type 1','Disease','A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.'),('251287','Benign concentric annular macular dystrophy','Disease','Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration.'),('251290','Parietal foramina with clavicular hypoplasia','Malformation syndrome','A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.'),('251295','Pigmented paravenous retinochoroidal atrophy','Disease','Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ``bone-corpuscle`` pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.'),('2513','Microcephaly-albinism-digital anomalies syndrome','Malformation syndrome','Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.'),('251304','Infantile onset panniculitis with uveitis and systemic granulomatosis','Disease','Infantile onset panniculitis with uveitis and systemic granulomatosis is a rare granulomatous autoinflammatroy disease characterized by infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.'),('251307','Idiopathic recurrent pericarditis','Disease','Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.'),('251312','Overlapping connective tissue disease','Clinical group','no definition available'),('251316','OBSOLETE: Unclassified overlapping connective tissue disease','Disease','no definition available'),('251325','Drug-induced vasculitis','Disease','no definition available'),('251328','Unclassified vasculitis','Disease','no definition available'),('251332','Unexplained long-lasting fever/inflammatory syndrome','Disease','no definition available'),('251347','Ataxia-telangiectasia-like disorder','Disease','A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.'),('251355','Sickle cell disease associated with an other hemoglobin anomaly','Category','no definition available'),('251359','Sickle cell-beta-thalassemia disease syndrome','Disease','A rare, genetic hemoglobinopathy that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. Clinical manifestations depend on the amount of residual beta globin chains production, and are similar to sickle cell disease, including anemia, vascular occlusion and its complications, acute episodes of pain, acute chest syndrome, pulmonary hypertension, sepsis, ischemic brain injury, splenic sequestration crisis and splenomegaly.'),('251365','Sickle cell-hemoglobin C disease syndrome','Disease','A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.'),('251370','Sickle cell-hemoglobin D disease syndrome','Disease','A rare, genetic hemoglobinopathy characterized by anemia and erythrocyte abnormalities including anisocytosis, poikilocytosis, target cells, and irreversibly sickled cells. Clinical course is similar to sickle cell disease, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis.'),('251375','Sickle cell-hemoglobin E disease syndrome','Disease','A rare, genetic hemoglobinopathy usually characterized by mild hemolysis without vaso-occlusive complications or abnormality of red blood cell morphology. However, more severe manifestations have also been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis.'),('251380','Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome','Disease','A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.'),('251383','CK syndrome','Malformation syndrome','CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.'),('251393','Localized junctional epidermolysis bullosa, non-Herlitz type','Clinical subtype','Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.'),('2514','Autosomal dominant primary microcephaly','Etiological subtype','A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.'),('2515','Microcephaly-cardiomyopathy syndrome','Malformation syndrome','Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.'),('251510','46,XY partial gonadal dysgenesis','Malformation syndrome','46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.'),('251515','Distal arthrogryposis type 10','Malformation syndrome','A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.'),('251523','Hyperzincemia and hypercalprotectinemia','Disease','A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.'),('251529','Toxic or drug-related embryofetopathy','Category','no definition available'),('251535','Maternal disease-related embryofetopathy','Category','no definition available'),('251558','Rare tumor of neuroepithelial tissue','Category','no definition available'),('251561','High-grade astrocytoma','Clinical group','no definition available'),('251576','Gliosarcoma','Histopathological subtype','no definition available'),('251579','Giant cell glioblastoma','Histopathological subtype','no definition available'),('251582','Gliomatosis cerebri','Disease','A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.'),('251589','Anaplastic astrocytoma','Disease','A rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.'),('251592','Low-grade astrocytoma','Clinical group','no definition available'),('251595','Diffuse astrocytoma','Disease','A rare low-grade astrocytoma characterized by a high degree of cellular differentiation, slow growth, and diffuse infiltration of adjacent brain structures, and corresponding to WHO grade II. The tumor typically affects young adults and has an intrinsic tendency for progression to high-grade glioma. Histological variants are fibrillary, gemistocytic, and protoplasmic astrocytoma. Patients most commonly present with seizures, but also with other neurological or neuropsychological abnormalities, depending on the location.'),('251598','Protoplasmic astrocytoma','Histopathological subtype','no definition available'),('2516','Microcephaly-cardiac defect-lung malsegmentation syndrome','Malformation syndrome','Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.'),('251601','Fibrillary astrocytoma','Histopathological subtype','no definition available'),('251604','Gemistocytic astrocytoma','Histopathological subtype','no definition available'),('251607','Pleomorphic xanthoastrocytoma','Disease','A rare low-grade astrocytoma characterized by superficial location in the cerebral hemispheres with involvement of the meninges, composed of GFAP-expressing cells showing nuclear and cytoplasmic pleomorphism and xanthomatous change, surrounded by a reticulin network. The tumor corresponds to WHO grade II and typically affects children and young adults, who often present with a long history of seizures. Extent of resection and mitotic index are important prognostic factors.'),('251612','Pilocytic astrocytoma','Disease','Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.'),('251615','Pilomyxoid astrocytoma','Histopathological subtype','no definition available'),('251618','Subependymal giant cell astrocytoma','Disease','A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.'),('251623','Pituicytoma','Disease','A rare glial tumor originating from pituicytes, the specialized glial cells of the neurohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect. Typical manifestations are visual disturbances, headaches, and hypopituitarism. Pituicytomas are low-grade tumors, and prognosis is good after total resection.'),('251627','Oligodendroglioma','Disease','A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.'),('251630','Anaplastic oligodendroglioma','Disease','A rare glial tumor characterized by a grade III oligodendroglial tumour with focal or diffuse anaplastic features. It typically occurs in the supratentorial white matter. Histologically, the cells are enlarged and epithelioid with pleomorphic and increased size nuclei, a vesicular chromatin pattern and prominent nucleoli. Most patients present with seizures.'),('251633','OBSOLETE: Low-grade ependymoma','Disease','no definition available'),('251636','Ependymoma','Disease','Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures, focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.'),('251639','Subependymoma','Disease','Subependymoma is a rare and slow growing type of ependymoma (see this term), often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.'),('251643','Myxopapillary ependymoma','Disease','Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.'),('251646','Anaplastic ependymoma','Disease','A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.'),('251651','Oligoastrocytic tumor','Clinical group','no definition available'),('251656','Oligoastrocytoma','Disease','Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage.'),('251663','Anaplastic oligoastrocytoma','Disease','A rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.'),('251668','Glial tumor of neuroepithelial tissue with unknown origin','Clinical group','no definition available'),('251671','Angiocentric glioma','Disease','An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.'),('251674','Chordoid glioma','Disease','Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity.'),('251679','Astroblastoma','Disease','A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.'),('2518','Autosomal recessive chorioretinopathy-microcephaly syndrome','Malformation syndrome','A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.'),('251852','Embryonal tumor of neuroepithelial tissue','Category','no definition available'),('251855','Anaplastic/large cell medulloblastoma','Histopathological subtype','A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.'),('251858','Medulloblastoma with extensive nodularity','Histopathological subtype','Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis.'),('251863','Desmoplastic/nodular medulloblastoma','Histopathological subtype','Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.'),('251867','Classic medulloblastoma','Histopathological subtype','Classic medulloblastoma is a histological variant of medulloblastoma (see this term) ,an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.'),('251870','Central nervous system embryonal tumor','Clinical group','no definition available'),('251877','Ganglioneuroblastoma','Disease','Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor.'),('251880','Ependymoblastoma','Disease','Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.'),('251883','Medulloepithelioma of the central nervous system','Disease','Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.'),('251891','OBSOLETE: Atypical teratoid/rhabdoid tumor','Disease','no definition available'),('251896','Choroid plexus tumor','Clinical group','no definition available'),('251899','Choroid plexus carcinoma','Disease','Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.'),('2519','Microcephaly-seizures-intellectual disability-heart disease syndrome','Malformation syndrome','A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.'),('251902','Atypical papilloma of choroid plexus','Disease','A very rare type of choroid plexus tumor that, contrary to papilloma of the choroid plexus, has an increased likelihood of progression to carcinoma and of recurrence. It displays brisk mitoses, nuclear pleomorphism, raised cellular density, obscurity of the papillary growth pattern, and cell necrosis.'),('251905','Pineal tumor of neuroepithelial tissue','Clinical group','no definition available'),('251909','Pineoblastoma','Disease','Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.'),('251912','Pineocytoma','Disease','Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud`s syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.'),('251915','Papillary tumor of the pineal region','Disease','Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.'),('251919','Pineal parenchymal tumor of intermediate differenciation','Disease','Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.'),('251924','Neuronal tumor','Clinical group','no definition available'),('251927','Extraventricular neurocytoma','Disease','Extraventricular neurocytoma (EVN), a variant of central neurocytoma (see this term), is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.'),('251931','Cerebellar liponeurocytoma','Disease','Cerebellar liponeurocytoma (cLPN) is a rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence.'),('251934','Mixed neuronal-glial tumor','Clinical group','no definition available'),('251937','Gangliocytoma','Disease','Gangliocytoma is a rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.'),('251940','Desmoplastic infantile astrocytoma/ganglioglioma','Disease','Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.'),('251946','Dysembryoplastic neuroepithelial tumor','Disease','A rare mixed neuronal-glial tumor characterized by a benign, usually supratentorial lesion with predominantly cortical location and multinodular architecture. The tumor typically becomes symptomatic in the second or third decade of life with drug-resistant partial seizures. Histological hallmark is the specific glioneuronal element, columns oriented perpendicularly to the cortical surface, formed by bundles of axons attached to oligodendroglia-like cells, while neurons appear to float in an abundant eosinophilic matrix.'),('251949','Ganglioglioma','Disease','Ganglioglioma is a rare, usually benign, well-circumscribed, often cystic, mixed neuronal-glial tumor (composed of both neoplastic glial and ganglionic elements) which is typically located in the temporal lobe and rarely invades the surrounding tissue. Patients usually present with seizures refractory to medical treatment. Association with neurofibromatosis type I and tuberous sclerosis has been reported.'),('251957','Anaplastic ganglioglioma','Disease','A rare mixed neuronal-glial tumor characterized by a mostly supratentorial space-occupying lesion often involving the temporal lobe, although it may occur anywhere in the central nervous system. The tumor shows anaplastic features in its glial component and is considered WHO grade III, which may, albeit inconsistently, indicate more aggressive behavior and less favorable prognosis. Clinical symptoms vary according to the location, the most common manifestation being seizures.'),('251962','Papillary glioneuronal tumor','Disease','A rare mixed neuronal-glial tumor characterized by a supratentorial space-occupying lesion in periventricular location, often with prominent cystic change. The histological hallmark of this low-grade neoplasm is its pseudopapillary appearance with a single layer of cuboidal cells around hyalinized blood vessels, associated with sheets or focal collections of neuronal cells. Clinical presentation is variable and non-specific, most frequently with headache and seizures. Prognosis is favorable after complete resection.'),('251975','Rosette-forming glioneuronal tumor','Disease','Rosette-forming glioneuronal tumor is a rare mixed neuronal-glial tumor characterized by the presence of uniform, rosette- (or pseudorosette-) forming neurocytes with an astrocytic component, together creating a biphasic pattern. It can present with signs of raised intracranial pressure (headache, vomiting, papilledema), hydrocephalus, seizures, ataxia and visual disturbances, or can be diagnosed incidentally in asymptomatic patients. The tumor usually arises in the midline, involving the fourth ventricle or the cerebellum.'),('251992','Ganglioneuroma','Disease','Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.'),('251995','Primary germ cell tumor of central nervous system','Category','no definition available'),('252','OBSOLETE: Spondyloepimetaphyseal dysplasia','Clinical group','no definition available'),('252006','Yolk sac tumor of central nervous system','Clinical subtype','no definition available'),('252015','Choriocarcinoma of the central nervous system','Disease','A rare primary germ cell tumor of central nervous system characterized by a lesion typically in the region of the pineal gland and the suprasellar compartment, composed of cytotrophoblastic elements and multinucleated syncytiotrophoblastic giant cells. Ectatic stromal vascular channels, blood lakes, and extensive hemorrhagic necrosis are the rule. The tumor usually arises in the second decade of life and predominantly in males. Clinical presentation depends on location and size and includes signs of increased intracranial pressure, visual disturbances, and endocrine abnormalities. Prognosis is generally poor.'),('252018','Teratoma of the central nervous system','Clinical subtype','no definition available'),('252021','Mixed germ cell tumor of central nervous system','Clinical subtype','no definition available'),('252025','Tumor of meninges','Category','no definition available'),('252028','Primary melanocytic tumor of central nervous system','Category','no definition available'),('252031','Diffuse leptomeningeal melanocytosis','Disease','Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.'),('252046','Meningeal melanocytoma','Disease','A rare nervous system tumor characterized by a benign pigmented space-occupying lesion derived from leptomeningeal melanocytes. Symptoms typically show insidious onset and are related to the mass effect on adjacent tissues. Depending on the location of the tumor, they include focal neurological deficits, increased intracranial pressure, seizures, and spinal cord compression, among others. Although the tumor may behave aggressively, prognosis is good after complete surgical resection.'),('252050','Primary melanoma of the central nervous system','Disease','Primary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is typically a darkly pigmented, solid mass, often containing hemorrhagic or necrotic areas, composed of sheets of pleomorphic cells with prominent nucleoli, with frequent mitotic figures and parenchymal invasion. Intracranial tumor may present with signs of raised intracranial pressure, focal neurological symptoms related to tumor location, seizures or subarachnoid hemorrhage, spinal tumor may present with back pain, muscle weakness, numbness, plegia or urinary incontinence.'),('252054','Hemangioblastoma','Disease','Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL; see this term). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.'),('252057','Tumor of cranial and spinal nerves','Category','no definition available'),('2521','Microcephaly-cleft palate-abnormal retinal pigmentation syndrome','Malformation syndrome','Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.'),('252128','Malignant peripheral nerve sheath tumor with perineurial differentiation','Histopathological subtype','Malignant peripheral nerve sheath tumor with perineurial differentiation is a rare soft tissue sarcoma composed predominantly of spindle-shaped neoplastic cells showing perineurial differentiation and displaying abundant cellular pleomorphism or anaplasia, frequent mitoses, tumor necrosis and high metastatic potential. It often presents as a soft, painless, solid mass in subcutaneous tissues of the trunk or limbs, but tumors have also been described in the facial area, mediastinum, retroperitoneum, pancreas, paravertebral column and the pelvic soft tissues. Frequent local recurrence and distant metastatic spread has been reported.'),('252131','Benign peripheral nerve sheath tumor','Category','no definition available'),('252164','Benign schwannoma','Disease','A rare benign peripheral nerve sheath tumor characterized by a usually encapsulated space-occupying lesion composed of differentiated neoplastic Schwann cells. It most commonly arises from peripheral nerves in the head and neck region and extensor aspects of the extremities, but also from spinal and cranial nerves, especially the vestibular nerve. The tumor may be asymptomatic or cause symptoms related to a mass effect. It grows slowly and only rarely undergoes malignant transformation.'),('252175','Vestibular schwannoma','Clinical subtype','Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.'),('252183','Neurofibroma','Disease','A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.'),('252190','Inherited nervous system cancer-predisposing syndrome','Category','no definition available'),('2522','Microcephaly-cervical spine fusion anomalies syndrome','Malformation syndrome','Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.'),('252202','Constitutional mismatch repair deficiency syndrome','Disease','Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.'),('252206','Melanoma and neural system tumor syndrome','Disease','Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).'),('252212','Malignant triton tumor','Histopathological subtype','Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation.'),('2523','Microcephaly-brain defect-spasticity-hypernatremia syndrome','Malformation syndrome','Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.'),('2524','Pontocerebellar hypoplasia type 2','Malformation syndrome','Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.'),('2526','Microcephaly-lymphedema-chorioretinopathy syndrome','Malformation syndrome','Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.'),('2528','Microcephaly-microcornea syndrome, Seemanova type','Malformation syndrome','Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister`s son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.'),('253','Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia','Clinical group','no definition available'),('2533','Microcephaly-deafness-intellectual disability syndrome','Malformation syndrome','Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.'),('2535','OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome','Malformation syndrome','no definition available'),('2536','Microcornea-glaucoma-absent frontal sinuses syndrome','Malformation syndrome','A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.'),('2538','Microgastria-limb reduction defect syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.'),('254','Spondylometaphyseal dysplasia','Clinical group','Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.'),('2542','Isolated microphthalmia-anophthalmia-coloboma','Clinical group','A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.'),('2543','OBSOLETE: Microphthalmia-cataract syndrome','Malformation syndrome','no definition available'),('254334','Autosomal recessive intermediate Charcot-Marie-Tooth disease type B','Disease','An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.'),('254343','Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome','Disease','A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy.'),('254346','19p13.12 microdeletion syndrome','Malformation syndrome','19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.'),('254351','Distal 7q11.23 microdeletion syndrome','Malformation syndrome','Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).'),('254361','Plectin-related limb-girdle muscular dystrophy R17','Disease','A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.'),('254367','Rare lichen planus','Category','Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms).'),('254370','Rare cutaneous lichen planus','Category','no definition available'),('254373','Rare mucosal lichen planus','Category','no definition available'),('254379','Linear lichen planus','Disease','Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.'),('254395','Actinic lichen planus','Disease','A rare cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.'),('254411','Annular atrophic lichen planus','Disease','A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.'),('254424','Annular lichen planus','Disease','A rare variant of cutaneous lichen planus characterized by the development of annular lesions.'),('254449','Atrophic lichen planus','Disease','A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.'),('254463','Lichen planus pigmentosus','Disease','Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.'),('254478','Lichen planus pemphigoides','Disease','Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms).'),('254492','Frontal fibrosing alopecia','Disease','Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.'),('254504','Inhalational botulism','Clinical subtype','Inhalational botulism is a man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).'),('254509','Iatrogenic botulism','Clinical subtype','Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.'),('254516','Temple syndrome','Malformation syndrome','Temple syndrome is a rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion).'),('254519','Kagami-Ogata syndrome','Malformation syndrome','Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.'),('254525','Temple syndrome due to paternal 14q32.2 microdeletion','Etiological subtype','no definition available'),('254528','Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion','Etiological subtype','no definition available'),('254531','Temple syndrome due to paternal 14q32.2 hypomethylation','Etiological subtype','no definition available'),('254534','Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation','Etiological subtype','no definition available'),('254685','Gestational trophoblastic disease','Category','no definition available'),('254688','Complete hydatidiform mole','Clinical subtype','Complete hydatidiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma (see this term).'),('254693','Partial hydatidiform mole','Clinical subtype','Partial hydatiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.'),('254698','Epithelioid trophoblastic tumor','Disease','An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT; see this term) which generally occurs several years after pregnancy.'),('2547','Microphthalmia-microtia-fetal akinesia syndrome','Malformation syndrome','no definition available'),('254704','Genetic hyperferritinemia without iron overload','Biological anomaly','Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.'),('254707','Faisalabad histiocytosis','Disease','no definition available'),('254712','Familial sinus histiocytosis with massive lymphadenopathy','Disease','no definition available'),('254723','Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome','Disease','no definition available'),('254746','Pyruvate metabolism disorder','Category','no definition available'),('254749','Tricarboxylic acid cycle disorder','Category','no definition available'),('254758','Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies','Category','no definition available'),('254767','Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA','Category','no definition available'),('254776','Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA','Category','no definition available'),('254788','Mitochondrial DNA-related mitochondrial myopathy','Clinical group','no definition available'),('254793','Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA','Category','no definition available'),('254803','Mitochondrial DNA depletion syndrome, encephalomyopathic form','Clinical group','Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.'),('254807','Multiple mitochondrial DNA deletion syndrome','Category','no definition available'),('254818','Ataxia neuropathy spectrum','Clinical group','no definition available'),('254822','Mitochondrial oxidative phosphorylation disorder with no known mechanism','Category','no definition available'),('254827','Mitochondrial membrane transport disorder','Category','no definition available'),('254830','Mitochondrial substrate carrier disorder','Category','no definition available'),('254834','Mitochondrial protein import disorder','Category','no definition available'),('254837','Unspecified mitochondrial disorder','Clinical group','no definition available'),('254843','Exercise intolerance with lactic acidosis','Clinical group','no definition available'),('254846','Isolated oxidative phosphorylation complex disorder','Category','no definition available'),('254851','Mitochondrial DNA-related dystonia','Disease','Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.'),('254854','Pure mitochondrial myopathy','Disease','Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.'),('254857','Lethal infantile mitochondrial myopathy','Disease','Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.'),('254864','Mitochondrial myopathy with reversible cytochrome C oxidase deficiency','Disease','A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a potentially life-threatening, severe myopathy manifesting in the neonatal to early infantile period, followed by marked, spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient, marked decrease in respiratory chain activity.'),('254871','Mitochondrial DNA depletion syndrome, hepatocerebral form','Clinical group','no definition available'),('254875','Mitochondrial DNA depletion syndrome, myopathic form','Disease','Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.'),('254881','Spinocerebellar ataxia with epilepsy','Disease','Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.'),('254886','Autosomal recessive progressive external ophthalmoplegia','Disease','A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.'),('254892','Autosomal dominant progressive external ophthalmoplegia','Disease','A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form.'),('254898','Deafness-encephaloneuropathy-obesity-valvulopathy syndrome','Disease','Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.'),('2549','Oculoauriculovertebral spectrum with radial defects','Malformation syndrome','Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.'),('254902','Renal tubulopathy-encephalopathy-liver failure syndrome','Disease','Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.'),('254905','Isolated cytochrome C oxidase deficiency','Disease','no definition available'),('254913','Isolated ATP synthase deficiency','Disease','Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).'),('254920','Combined oxidative phosphorylation defect type 2','Disease','Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.'),('254925','Combined oxidative phosphorylation defect type 4','Disease','Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.'),('254930','Combined oxidative phosphorylation defect type 7','Disease','Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.'),('255','Dopa-responsive dystonia','Clinical group','Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.'),('2551','Microspherophakia-metaphyseal dysplasia syndrome','Malformation syndrome','Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.'),('255117','OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness','Disease','no definition available'),('255132','Adult-onset autosomal recessive sideroblastic anemia','Disease','A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.'),('255138','Pyruvate dehydrogenase E1-beta deficiency','Clinical subtype','Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.'),('255182','Pyruvate dehydrogenase E3-binding protein deficiency','Clinical subtype','Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.'),('255199','OBSOLETE: Sporadic Leigh syndrome','Disease','no definition available'),('2552','Microsporidiosis','Disease','Microsporidiosis is a parasitosis caused by microsporidia (protozoan parasites).'),('255210','Mitochondrial DNA-associated Leigh syndrome','Disease','Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.'),('255225','OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy','Disease','no definition available'),('255229','Navajo neurohepatopathy','Disease','A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of funtion, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.'),('255235','Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy','Disease','no definition available'),('255241','Leigh syndrome with leukodystrophy','Disease','no definition available'),('255249','Leigh syndrome with nephrotic syndrome','Disease','A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.'),('2554','Ear-patella-short stature syndrome','Malformation syndrome','Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).'),('2556','Microphthalmia with linear skin defects syndrome','Malformation syndrome','MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.'),('2557','Mietens syndrome','Malformation syndrome','Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.'),('2558','Mikati-Najjar-Sahli syndrome','Malformation syndrome','Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).'),('256','Early-onset generalized limb-onset dystonia','Disease','A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.'),('2560','Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction; see this term) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.'),('2561','Pyramidal molars-abnormal upper lip syndrome','Malformation syndrome','A rare syndrome characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.'),('2563','MOMO syndrome','Malformation syndrome','MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.'),('2564','Tetramelic monodactyly','Malformation syndrome','Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.'),('2565','Mononen-Karnes-Senac syndrome','Malformation syndrome','Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.'),('2566','Chronic Epstein-Barr virus infection syndrome','Disease','Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.'),('2569','Moore-Federman syndrome','Malformation syndrome','no definition available'),('257','Epidermolysis bullosa simplex with muscular dystrophy','Disease','Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.'),('2570','Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome','Malformation syndrome','Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.'),('2571','X-linked immunoneurologic disorder','Disease','X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.'),('2572','Spastic ataxia-corneal dystrophy syndrome','Disease','Spastic ataxia-corneal dystrophy syndrome is a rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986.'),('2573','Moyamoya disease','Disease','Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.'),('2574','Moynahan syndrome','Malformation syndrome','A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.'),('2575','Cystic fibrosis-gastritis-megaloblastic anemia syndrome','Disease','Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.'),('2576','Mulibrey nanism','Malformation syndrome','A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.'),('2578','Mayer-Rokitansky-Küster-Hauser syndrome type 2','Clinical subtype','Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.'),('2579','Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome','Disease','A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.'),('258','Laminin subunit alpha 2-related congenital muscular dystrophy','Malformation syndrome','Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.'),('2580','OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome','Malformation syndrome','no definition available'),('2582','Myalgia-eosinophilia syndrome associated with tryptophan','Malformation syndrome','Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.'),('2583','Mycetoma','Disease','Subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.'),('2584','Classic mycosis fungoides','Disease','Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.'),('2585','Ataxia-pancytopenia syndrome','Malformation syndrome','A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.'),('2587','Myeloperoxidase deficiency','Disease','A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.'),('2588','Myhre syndrome','Malformation syndrome','Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.'),('2589','Myoclonus-cerebellar ataxia-deafness syndrome','Malformation syndrome','This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.'),('2590','Spinal muscular atrophy-progressive myoclonic epilepsy syndrome','Disease','Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.'),('2591','Infantile myofibromatosis','Disease','A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts.'),('2593','Tubular aggregate myopathy','Disease','A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.'),('2596','Myopathy and diabetes mellitus','Disease','A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.'),('25968','Benign occipital epilepsy','Disease','Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.'),('2597','Mitochondrial myopathy-lactic acidosis-deafness syndrome','Disease','Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.'),('2598','Mitochondrial myopathy and sideroblastic anemia','Disease','Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.'),('25980','X-linked myopathy with excessive autophagy','Disease','X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.'),('26','Methylmalonic acidemia with homocystinuria','Disease','A rare inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).'),('2601','OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome','Malformation syndrome','no definition available'),('260305','Autosomal recessive sideroblastic anemia','Disease','Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.'),('2604','Familial visceral myopathy','Disease','Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.'),('2608','N syndrome','Malformation syndrome','A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (incl. dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974.'),('2609','Isolated complex I deficiency','Disease','Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).'),('261','Emery-Dreifuss muscular dystrophy','Disease','A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.'),('26106','Hereditary diffuse gastric cancer','Disease','Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.'),('2611','Linear verrucous nevus syndrome','Disease','no definition available'),('261102','Distal 7q11.23 microduplication syndrome','Malformation syndrome','Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.'),('261112','Monosomy 9p','Malformation syndrome','Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.'),('261120','14q11.2 microdeletion syndrome','Malformation syndrome','14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.'),('261144','14q12 microdeletion syndrome','Malformation syndrome','14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.'),('261183','15q11.2 microdeletion syndrome','Malformation syndrome','15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).'),('261190','15q14 microdeletion syndrome','Malformation syndrome','15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.'),('261197','Proximal 16p11.2 microdeletion syndrome','Malformation syndrome','The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.'),('2612','Linear nevus sebaceus syndrome','Disease','A rare nevus syndrome characterized by the association of an nevus sebaceous with a broad spectrum of abnormalities that affect many organ systems, most commonly the eye, skeletal and central nervous system.'),('261204','16p11.2p12.2 microduplication syndrome','Malformation syndrome','16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.'),('261211','16p11.2p12.2 microdeletion syndrome','Malformation syndrome','16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.'),('261222','Distal 16p11.2 microdeletion syndrome','Malformation syndrome','Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.'),('261229','14q11.2 microduplication syndrome','Malformation syndrome','14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.'),('261236','16p13.11 microdeletion syndrome','Malformation syndrome','16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.'),('261243','16p13.11 microduplication syndrome','Malformation syndrome','16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.'),('261250','16q24.3 microdeletion syndrome','Malformation syndrome','16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.'),('261257','Distal 17p13.3 microdeletion syndrome','Malformation syndrome','Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.'),('261265','17q12 microdeletion syndrome','Malformation syndrome','17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.'),('261272','17q12 microduplication syndrome','Malformation syndrome','17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.'),('261279','17q23.1q23.2 microdeletion syndrome','Malformation syndrome','17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.'),('261290','Trisomy 17p','Malformation syndrome','Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.'),('261295','20p12.3 microdeletion syndrome','Malformation syndrome','20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.'),('2613','Nail-patella-like renal disease','Disease','A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.'),('261304','Paternal 20q13.2q13.3 microdeletion syndrome','Malformation syndrome','Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.'),('261311','20q13.33 microdeletion syndrome','Malformation syndrome','20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.'),('261318','Trisomy 20p','Malformation syndrome','Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.'),('261323','21q22.11q22.12 microdeletion syndrome','Malformation syndrome','A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.'),('261330','Distal 22q11.2 microdeletion syndrome','Malformation syndrome','Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.'),('261337','Distal 22q11.2 microduplication syndrome','Malformation syndrome','Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.'),('261344','Trisomy 1q','Malformation syndrome','Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.'),('261349','2p15p16.1 microdeletion syndrome','Malformation syndrome','2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.'),('26137','Juvenile temporal arteritis','Disease','Juvenile temporal arteritis (JTA) is an extremely uncommon vasculitis of unknown etiology. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area. The term JTA was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and microaneurysmal disruption of the media. JTA has a benign clinical course, is treated by surgical excision and does not recur.'),('2614','Nail-patella syndrome','Malformation syndrome','Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.'),('261476','Xp21 microdeletion syndrome','Disease','Xp21 microdeletion syndrome is a rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.'),('261483','Xq27.3q28 duplication syndrome','Malformation syndrome','Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.'),('261494','Kleefstra syndrome','Malformation syndrome','Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.'),('2615','Nakajo-Nishimura syndrome','Clinical subtype','no definition available'),('261501','Atypical Norrie disease due to Xp11.3 microdeletion','Malformation syndrome','A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.'),('261512','OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3','Malformation syndrome','no definition available'),('261519','Maternal uniparental disomy of chromosome X','Malformation syndrome','A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.'),('261524','Paternal uniparental disomy of chromosome X','Malformation syndrome','A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.'),('261529','Ring chromosome Y syndrome','Malformation syndrome','Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.'),('261534','49,XXXYY syndrome','Malformation syndrome','49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.'),('261537','Mowat-Wilson syndrome due to monosomy 2q22','Etiological subtype','no definition available'),('261552','Mowat-Wilson syndrome due to a ZEB2 point mutation','Etiological subtype','no definition available'),('261559','OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome','Etiological subtype','no definition available'),('261572','OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome','Etiological subtype','no definition available'),('261579','OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations','Etiological subtype','no definition available'),('261584','Familial adenomatous polyposis due to 5q22.2 microdeletion','Etiological subtype','no definition available'),('2616','3M syndrome','Malformation syndrome','A primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.'),('261600','Alagille syndrome due to 20p12 microdeletion','Etiological subtype','no definition available'),('261619','Alagille syndrome due to a JAG1 point mutation','Etiological subtype','no definition available'),('261629','Alagille syndrome due to a NOTCH2 point mutation','Etiological subtype','no definition available'),('261638','Okihiro syndrome due to 20q13 microdeletion','Etiological subtype','no definition available'),('261647','Okihiro syndrome due to a point mutation','Etiological subtype','no definition available'),('261652','Kleefstra syndrome due to a point mutation','Etiological subtype','no definition available'),('261697','Anomaly of chromosome 1','Category','no definition available'),('2617','Microcephalic primordial dwarfism, Montreal type','Malformation syndrome','A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.'),('261700','Anomaly of chromosome 2','Category','no definition available'),('261703','Anomaly of chromosome 3','Category','no definition available'),('261706','Anomaly of chromosome 4','Category','no definition available'),('261709','Anomaly of chromosome 5','Category','no definition available'),('261712','Anomaly of chromosome 6','Category','no definition available'),('261715','Anomaly of chromosome 7','Category','no definition available'),('261718','Anomaly of chromosome 8','Category','no definition available'),('261721','Anomaly of chromosome 9','Category','no definition available'),('261724','Anomaly of chromosome 10','Category','no definition available'),('261730','Anomaly of chromosome 11','Category','no definition available'),('261733','Anomaly of chromosome 12','Category','no definition available'),('261736','Anomaly of chromosome 13','Category','no definition available'),('261739','Anomaly of chromosome 14','Category','no definition available'),('261742','Anomaly of chromosome 15','Category','no definition available'),('261745','Anomaly of chromosome 16','Category','no definition available'),('261748','Anomaly of chromosome 17','Category','no definition available'),('261751','Anomaly of chromosome 18','Category','no definition available'),('261754','Anomaly of chromosome 19','Category','no definition available'),('261757','Anomaly of chromosome 20','Category','no definition available'),('261760','Anomaly of chromosome 21','Category','no definition available'),('261763','Anomaly of chromosome 22','Category','no definition available'); +INSERT INTO `Disease` VALUES ('261766','Partial deletion of chromosome 1','Category','no definition available'),('261771','Partial deletion of chromosome 2','Category','no definition available'),('261776','Partial deletion of chromosome 3','Category','no definition available'),('261781','Partial deletion of chromosome 4','Category','no definition available'),('261786','Partial deletion of chromosome 5','Category','no definition available'),('261791','Partial deletion of chromosome 6','Category','no definition available'),('261796','Partial deletion of chromosome 7','Category','no definition available'),('261801','Partial deletion of chromosome 8','Category','no definition available'),('261806','Partial deletion of chromosome 9','Category','no definition available'),('261811','Partial deletion of chromosome 10','Category','no definition available'),('261816','Partial deletion of chromosome 11','Category','no definition available'),('261821','Partial deletion of the long arm of chromosome 12','Category','no definition available'),('261826','Partial deletion of chromosome 16','Category','no definition available'),('261831','Partial deletion of chromosome 17','Category','no definition available'),('261836','Partial deletion of chromosome 18','Category','no definition available'),('261841','Partial deletion of chromosome 19','Category','no definition available'),('261846','Partial deletion of chromosome 20','Category','no definition available'),('261857','Partial deletion of the short arm of chromosome 1','Category','no definition available'),('261866','Partial deletion of the short arm of chromosome 2','Category','no definition available'),('261875','Partial deletion of the short arm of chromosome 3','Category','no definition available'),('261884','Partial deletion of the short arm of chromosome 4','Category','no definition available'),('261893','Partial deletion of the short arm of chromosome 5','Category','no definition available'),('2619','Brachydactylous dwarfism, Mseleni type','Disease','Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient`s ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.'),('261902','Partial deletion of the short arm of chromosome 6','Category','no definition available'),('261911','Partial deletion of the short arm of chromosome 7','Category','no definition available'),('261920','Partial deletion of the short arm of chromosome 8','Category','no definition available'),('261929','Partial deletion of the short arm of chromosome 9','Category','no definition available'),('261938','Partial deletion of the short arm of chromosome 10','Category','no definition available'),('261947','Partial deletion of the short arm of chromosome 11','Category','no definition available'),('261956','Partial deletion of the short arm of chromosome 16','Category','no definition available'),('261965','Partial monosomy of the short arm of chromosome 17','Category','no definition available'),('261974','Partial deletion of the short arm of chromosome 18','Category','no definition available'),('261983','Partial deletion of the short arm of chromosome 19','Category','no definition available'),('261992','Partial monosomy of the short arm of chromosome 20','Category','no definition available'),('262','Duchenne and Becker muscular dystrophy','Clinical group','Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.'),('262001','Partial deletion of the long arm of chromosome 1','Category','no definition available'),('262010','Partial deletion of the long arm of chromosome 2','Category','no definition available'),('262019','Partial deletion of the long arm of chromosome 3','Category','no definition available'),('262029','Partial deletion of the long arm of chromosome 4','Category','no definition available'),('262038','Partial deletion of the long arm of chromosome 5','Category','no definition available'),('262047','Partial deletion of the long arm of chromosome 6','Category','no definition available'),('262056','Partial deletion of the long arm of chromosome 7','Category','no definition available'),('262065','Partial deletion of the long arm of chromosome 8','Category','no definition available'),('262074','Partial monosomy of the long arm of chromosome 9','Category','no definition available'),('262083','Partial monosomy of the long arm of chromosome 10','Category','no definition available'),('262092','Partial deletion of the long arm of chromosome 11','Category','no definition available'),('2621','OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome','Malformation syndrome','no definition available'),('262101','Partial deletion of the long arm of chromosome 13','Category','no definition available'),('262110','Partial deletion of the long arm of chromosome 14','Category','no definition available'),('262119','Partial deletion of the long arm of chromosome 15','Category','no definition available'),('262128','Partial deletion of the long arm of chromosome 16','Category','no definition available'),('262137','Partial deletion of the long arm of chromosome 17','Category','no definition available'),('262146','Partial deletion of the long arm of chromosome 18','Category','no definition available'),('262155','Partial deletion of the long arm of chromosome 19','Category','no definition available'),('262164','Partial deletion of the long arm of chromosome 20','Category','no definition available'),('262173','Partial deletion of the long arm of chromosome 21','Category','no definition available'),('262182','Partial deletion of the long arm of chromosome 22','Category','no definition available'),('262191','Partial duplication of chromosome 1','Category','no definition available'),('262196','Partial duplication of chromosome 2','Category','no definition available'),('262201','Partial duplication of chromosome 3','Category','no definition available'),('262206','Partial duplication of chromosome 4','Category','no definition available'),('262211','Partial trisomy/tetrasomy of chromosome 5','Category','no definition available'),('2623','Geleophysic dysplasia','Malformation syndrome','A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy``).'),('2626','OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome','Malformation syndrome','no definition available'),('262628','Partial duplication of chromosome 6','Category','no definition available'),('262633','Partial duplication of chromosome 7','Category','no definition available'),('262638','Partial duplication of chromosome 8','Category','no definition available'),('262643','Partial trisomy/tetrasomy of chromosome 9','Category','no definition available'),('262648','Partial duplication of chromosome 10','Category','no definition available'),('262653','Partial duplication of chromosome 11','Category','no definition available'),('262658','Partial trisomy/tetrasomy of the short arm of chromosome 12','Category','no definition available'),('262672','Partial duplication of chromosome 16','Category','no definition available'),('262677','Partial duplication of chromosome 17','Category','no definition available'),('262682','Partial trisomy/tetrasomy of chromosome 18','Category','no definition available'),('262687','Partial duplication of chromosome 19','Category','no definition available'),('262692','Partial trisomy of chromosome 20','Category','no definition available'),('262698','Partial duplication of the short arm of chromosome 2','Category','no definition available'),('262707','Partial duplication of the short arm of chromosome 3','Category','no definition available'),('262716','Partial duplication of the short arm of chromosome 4','Category','no definition available'),('262725','Partial trisomy/tetrasomy of the short arm of chromosome 5','Category','no definition available'),('262740','Partial duplication of the short arm of chromosome 6','Category','no definition available'),('262749','Partial duplication of the short arm of chromosome 7','Category','no definition available'),('262758','Partial duplication of the short arm of chromosome 8','Category','no definition available'),('262767','Partial trisomy/tetrasomy of the short arm of chromosome 9','Category','no definition available'),('262776','Partial duplication of the short arm of chromosome 10','Category','no definition available'),('262785','Partial duplication of the short arm of chromosome 11','Category','no definition available'),('262794','Partial duplication of the short arm of chromosome 16','Category','no definition available'),('262803','Partial duplication of the short arm of chromosome 17','Category','no definition available'),('262812','Partial trisomy/tetrasomy of the short arm of chromosome 18','Category','no definition available'),('262833','Partial duplication of the long arm of chromosome 1','Category','no definition available'),('262842','Partial duplication of the long arm of chromosome 2','Category','no definition available'),('262851','Partial duplication of the long arm of chromosome 3','Category','no definition available'),('262860','Partial duplication of the long arm of chromosome 4','Category','no definition available'),('262869','Partial trisomy of the long arm of chromosome 5','Category','no definition available'),('262878','Partial duplication of the long arm of chromosome 6','Category','no definition available'),('262887','Partial duplication of the long arm of chromosome 7','Category','no definition available'),('262896','Partial duplication of the long arm of chromosome 8','Category','no definition available'),('262905','Partial trisomy of the long arm of chromosome 9','Category','no definition available'),('262914','Partial duplication of the long arm of chromosome 10','Category','no definition available'),('262923','Partial duplication of the long arm of chromosome 11','Category','no definition available'),('262932','Partial duplication of the long arm of chromosome 13','Category','no definition available'),('262941','Partial duplication of the long arm of chromosome 14','Category','no definition available'),('262950','Partial duplication of the long arm of chromosome 15','Category','no definition available'),('262959','Partial trisomy of the long arm of chromosome 16','Category','no definition available'),('262968','Partial duplication of the long arm of chromosome 17','Category','no definition available'),('262977','Partial trisomy of the long arm of chromosome 18','Category','no definition available'),('262986','Partial duplication of the long arm of chromosome 19','Category','no definition available'),('262995','Partial trisomy of the long arm of chromosome 20','Category','no definition available'),('263','Limb-girdle muscular dystrophy','Clinical group','Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.'),('263004','Partial duplication of the long arm of chromosome 22','Category','no definition available'),('263019','Uniparental disomy of chromosome 1','Category','no definition available'),('263024','Uniparental disomy of chromosome 6','Category','no definition available'),('263029','Uniparental disomy of chromosome 7','Category','no definition available'),('263034','Uniparental disomy of chromosome 11','Category','no definition available'),('263044','Uniparental disomy of chromosome 13','Category','no definition available'),('263049','Uniparental disomy of chromosome 14','Category','no definition available'),('263054','Uniparental disomy of chromosome 15','Category','no definition available'),('263059','Uniparental disomy of chromosome 20','Category','no definition available'),('263064','Uniparental disomy of chromosome 21','Category','no definition available'),('2631','Mesomelic dwarfism-cleft palate-camptodactyly syndrome','Malformation syndrome','A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.'),('2632','Langer mesomelic dysplasia','Malformation syndrome','A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.'),('263297','Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency','Disease','Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.'),('2633','Mesomelic dysplasia, Nievergelt type','Malformation syndrome','no definition available'),('263310','Thymoma type A','Histopathological subtype','no definition available'),('263317','Thymoma type B','Histopathological subtype','no definition available'),('263324','Thymoma type AB','Histopathological subtype','no definition available'),('263331','Well-differentiated thymic neuroendocrine carcinoma','Histopathological subtype','no definition available'),('263335','Moderately-differentiated thymic neuroendocrine carcinoma','Histopathological subtype','no definition available'),('263339','Poorly differentiated thymic neuroendocrine carcinoma','Histopathological subtype','no definition available'),('263347','MRCS syndrome','Disease','MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.'),('263352','Postcardiotomy right ventricular failure','Particular clinical situation in a disease or syndrome','no definition available'),('263355','ATR-X-related syndrome','Clinical group','no definition available'),('2634','Mesomelic dwarfism, Reinhardt-Pfeiffer type','Malformation syndrome','A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.'),('263410','Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome','Disease','Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.'),('263413','Angiosarcoma','Disease','A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.'),('263417','Bartter syndrome with hypocalcemia','Clinical subtype','no definition available'),('263425','Nevus of Ota','Disease','Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.'),('263432','Nevus of Ito','Disease','Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.'),('263435','Congenital smooth muscle hamartoma','Disease','Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.'),('263440','Neuroacanthocytosis','Clinical group','Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.'),('263455','Hyperinsulinism due to HNF4A deficiency','Disease','Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term).'),('263458','Hyperinsulinism due to INSR deficiency','Disease','Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.'),('263463','CHST3-related skeletal dysplasia','Disease','CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.'),('263479','Fuchs heterochromic iridocyclitis','Disease','Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.'),('26348','Acquired prothrombin deficiency','Disease','no definition available'),('263482','Spondyloepiphyseal dysplasia, Maroteaux type','Disease','Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.'),('263487','COG5-CDG','Disease','COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.'),('26349','Protein S acquired deficiency','Disease','no definition available'),('263494','DPM3-CDG','Disease','DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).'),('2635','Metatropic dysplasia','Disease','Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.'),('263501','COG4-CDG','Disease','COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.'),('263508','COG1-CDG','Disease','COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.'),('263516','Progressive myoclonic epilepsy type 3','Clinical subtype','A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.'),('263524','Acute necrotizing encephalopathy of childhood','Disease','A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.'),('263534','Acral peeling skin syndrome','Disease','A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.'),('263543','Generalized peeling skin syndrome','Disease','Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.'),('263548','Peeling skin syndrome type A','Clinical subtype','Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin.'),('263553','Peeling skin syndrome type B','Clinical subtype','Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.'),('263558','Peeling skin syndrome type C','Clinical subtype','no definition available'),('2636','Microcephalic osteodysplastic primordial dwarfism types I and III','Malformation syndrome','Rare disorders characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although they were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.'),('263662','Familial multiple meningioma','Disease','Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.'),('263665','NK-cell enteropathy','Disease','Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms).'),('263676','OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features','Category','no definition available'),('2637','Microcephalic osteodysplastic primordial dwarfism type II','Malformation syndrome','A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'),('263708','Complex chromosomal rearrangement','Category','no definition available'),('263711','X chromosome anomaly','Category','no definition available'),('263714','X chromosome number anomaly','Category','no definition available'),('263717','X chromosome number anomaly with female phenotype','Category','no definition available'),('263720','X chromosome number anomaly with male phenotype','Category','no definition available'),('263723','Polysomy of X chromosome','Category','no definition available'),('263726','Partial deletion of chromosome X','Category','no definition available'),('263731','Partial monosomy of the short arm of chromosome X','Category','no definition available'),('263746','Y chromosome number anomaly','Category','no definition available'),('263749','X and Y chromosomal anomaly','Category','no definition available'),('263756','Partial deletion of the long arm of chromosome X','Category','no definition available'),('263768','Partial duplication of chromosome X','Category','no definition available'),('263775','Partial duplication of the short arm of chromosome X','Category','no definition available'),('263783','Partial duplication of the long arm of chromosome X','Category','no definition available'),('263793','Uniparental disomy of chromosome X','Category','no definition available'),('263798','Y chromosomal anomaly','Category','no definition available'),('2639','Fibular aplasia-complex brachydactyly syndrome','Malformation syndrome','A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).'),('264','Autosomal dominant limb-girdle muscular dystrophy type 1B','Disease','no definition available'),('2640','Lethal short-limb dwarfism, McAlister-Crane type','Malformation syndrome','no definition available'),('2641','OBSOLETE: Micromelic dwarfism, Fryns type','Disease','no definition available'),('264200','14q22q23 microdeletion syndrome','Malformation syndrome','14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.'),('2643','Microcephalic primordial dwarfism, Toriello type','Malformation syndrome','A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.'),('264431','Partial duplication of the short arm of chromosome 1','Category','no definition available'),('264450','Trisomy 8p','Malformation syndrome','Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.'),('2645','Osteoglosphonic dysplasia','Malformation syndrome','A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.'),('264580','Glycogen storage disease due to liver phosphorylase kinase deficiency','Disease','Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.'),('2646','Parastremmatic dwarfism','Malformation syndrome','A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.'),('264656','Interstitial lung disease specific to childhood','Category','no definition available'),('264665','Primary interstitial lung disease specific to childhood','Category','no definition available'),('264670','Primary interstitial lung disease specific to childhood due to alveolar structure disorder','Category','no definition available'),('264675','Hereditary pulmonary alveolar proteinosis','Disease','A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.'),('264683','Primary interstitial lung disease specific to childhood due to alveolar vascular disorder','Category','no definition available'),('264688','Congenital chylothorax','Disease','Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.'),('264691','Isolated pulmonary capillaritis','Disease','Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.'),('264694','Interstitial lung disease specific to infancy','Category','no definition available'),('264699','Secondary interstitial lung disease specific to childhood associated with a systemic disease','Category','no definition available'),('264704','Secondary interstitial lung disease specific to childhood associated with a connective tissue disease','Category','no definition available'),('264709','Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis','Category','no definition available'),('264714','Secondary interstitial lung disease specific to childhood associated with a granulomatous disease','Category','no definition available'),('264719','Secondary interstitial lung disease specific to childhood associated with a metabolic disease','Category','no definition available'),('264724','OBSOLETE: Langerhans cell histiocytosis specific to childhood','Category','no definition available'),('264735','Interstitial lung disease specific to adulthood','Category','no definition available'),('264740','Primary interstitial lung disease specific to adulthood','Category','no definition available'),('264745','Secondary interstitial lung disease specific to adulthood associated with a systemic disease','Category','no definition available'),('264750','OBSOLETE: Langerhans cell histiocytosis specific to adulthood','Category','no definition available'),('264757','Interstitial lung disease in childhood and adulthood','Category','no definition available'),('264762','Primary interstitial lung disease in childhood and adulthood','Category','no definition available'),('2649','Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome','Malformation syndrome','no definition available'),('264930','Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder','Category','no definition available'),('264935','Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder','Category','no definition available'),('264944','Secondary interstitial lung disease in childhood and adulthood','Category','no definition available'),('264949','Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease','Category','no definition available'),('264955','OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood','Category','no definition available'),('264968','Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease','Category','no definition available'),('264973','Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis','Category','no definition available'),('264978','Drug or radiation exposure-related interstitial lung disease','Particular clinical situation in a disease or syndrome','no definition available'),('264984','Exposure-related interstitial lung disease','Category','no definition available'),('264992','Genetic interstitial lung disease','Category','no definition available'),('265','Autosomal dominant limb-girdle muscular dystrophy type 1C','Disease','no definition available'),('2650','OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome','Malformation syndrome','no definition available'),('2653','Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome','Malformation syndrome','Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.'),('2654','Syndesmodysplasic dwarfism','Disease','no definition available'),('2655','Thanatophoric dysplasia','Disease','A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.'),('2658','Lenz-Majewski hyperostotic dwarfism','Malformation syndrome','An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.'),('266','Autosomal dominant limb-girdle muscular dystrophy type 1A','Disease','A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.'),('2661','Dwarfism-tall vertebrae syndrome','Malformation syndrome','no definition available'),('2662','Keipert syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.'),('2663','Nathalie syndrome','Malformation syndrome','A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.'),('2665','Congenital mesoblastic nephroma','Disease','no definition available'),('2666','Adult familial nephronophthisis-spastic quadriparesia syndrome','Disease','A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.'),('2668','Nephropathy-deafness-hyperparathyroidism syndrome','Malformation syndrome','A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989.'),('2669','Nephrosis-deafness-urinary tract-digital malformations syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.'),('267','Calpain-3-related limb-girdle muscular dystrophy R1','Disease','A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.'),('2670','Pierson syndrome','Malformation syndrome','A rare syndrome characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.'),('2671','Neu-Laxova syndrome','Malformation syndrome','Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.'),('2672','Neuhauser-Eichner-Opitz syndrome','Malformation syndrome','no definition available'),('2673','Neurofaciodigitorenal syndrome','Malformation syndrome','Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.'),('2674','Cyprus facial-neuromusculoskeletal syndrome','Malformation syndrome','Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.'),('2675','OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome','Disease','no definition available'),('2676','Neuroectodermal-endocrine syndrome','Malformation syndrome','no definition available'),('2677','OBSOLETE: Neuroepithelioma','Disease','no definition available'),('2678','Neurofibromatosis type 6','Malformation syndrome','Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.'),('2679','OBSOLETE: Infantile axonal neuropathy','Disease','no definition available'),('26790','Pseudomyxoma peritonei','Disease','Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.'),('26791','Multiple acyl-CoA dehydrogenase deficiency','Disease','Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.'),('26792','Short chain acyl-CoA dehydrogenase deficiency','Disease','Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.'),('26793','Very long chain acyl-CoA dehydrogenase deficiency','Disease','Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.'),('268','Dysferlin-related limb-girdle muscular dystrophy R2','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.'),('2680','Hypomyelination neuropathy-arthrogryposis syndrome','Malformation syndrome','Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.'),('268114','RAS-associated autoimmune leukoproliferative disease','Disease','RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.'),('268129','Spheroid body myopathy','Disease','Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.'),('268139','Intraocular medulloepithelioma','Disease','Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.'),('268145','Classic maple syrup urine disease','Clinical subtype','Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.'),('268162','Intermediate maple syrup urine disease','Clinical subtype','Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.'),('268173','Intermittent maple syrup urine disease','Clinical subtype','Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.'),('268184','Thiamine-responsive maple syrup urine disease','Clinical subtype','Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.'),('26823','NON RARE IN EUROPE: Pigment-dispersion syndrome','Disease','no definition available'),('268249','Mycophenolate mofetil embryopathy','Malformation syndrome','Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.'),('268261','DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion','Clinical subtype','A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.'),('268316','Complication in hemodialysis','Particular clinical situation in a disease or syndrome','no definition available'),('268322','Hereditary thrombocytopenia with normal platelets','Disease','A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.'),('268337','Autosomal recessive intermediate Charcot-Marie-Tooth disease','Clinical group','no definition available'),('268357','Neural tube closure defect','Category','no definition available'),('268363','Open iniencephaly','Clinical subtype','no definition available'),('268366','Closed iniencephaly','Clinical subtype','no definition available'),('268369','Spina bifida aperta','Morphological anomaly','A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.'),('268377','Total spina bifida aperta','Clinical subtype','no definition available'),('268384','Thoracolumbosacral spina bifida aperta','Clinical subtype','no definition available'),('268388','Lumbosacral spina bifida aperta','Clinical subtype','no definition available'),('268392','Cervical spina bifida aperta','Clinical subtype','no definition available'),('268397','Cervicothoracic spina bifida aperta','Clinical subtype','no definition available'),('2686','Cyclic neutropenia','Disease','A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.'),('2687','Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome','Disease','no definition available'),('268740','Upper thoracic spina bifida aperta','Clinical subtype','no definition available'),('268744','Spina bifida cystica','Clinical group','no definition available'),('268748','Total spina bifida cystica','Clinical subtype','no definition available'),('268752','Thoracolumbosacral spina bifida cystica','Clinical subtype','no definition available'),('268758','Lumbosacral spina bifida cystica','Clinical subtype','no definition available'),('268762','Cervical spina bifida cystica','Clinical subtype','no definition available'),('268766','Cervicothoracic spina bifida cystica','Clinical subtype','no definition available'),('268770','Upper thoracic spina bifida cystica','Clinical subtype','no definition available'),('2688','Adult idiopathic neutropenia','Disease','A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.'),('268810','Posterior meningocele','Morphological anomaly','Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.'),('268813','Myelocystocele','Morphological anomaly','A rare neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The malformation can occur anywhere along the spinal cord but appears to be more frequent in the posterior cervical and the lumbosacral region. It may be an isolated anomaly or be associated with other defects, including anorectal and genitourinary anomalies, or sacral agenesis.'),('268817','Cephalocele','Clinical group','no definition available'),('268820','Cranial meningocele','Morphological anomaly','no definition available'),('268823','Occipital encephalocele','Clinical subtype','no definition available'),('268826','Parietal encephalocele','Clinical subtype','no definition available'),('268829','Basal encephalocele','Clinical subtype','no definition available'),('268832','Lipoma associated with neurospinal dysraphism','Clinical group','no definition available'),('268835','Lipomyelomeningocele','Morphological anomaly','Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.'),('268838','Leptomyelolipoma','Morphological anomaly','Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.'),('268843','Malformation of the neurenteric canal, spinal cord and column','Category','no definition available'),('268861','Primary tethered cord syndrome','Morphological anomaly','Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.'),('268865','Neurenteric cyst','Morphological anomaly','A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.'),('268868','Isolated amyelia','Morphological anomaly','no definition available'),('268871','OBSOLETE: Primary syringomyelia/hydromyelia','Morphological anomaly','no definition available'),('268874','OBSOLETE: Congenital hydromyelia','Clinical subtype','no definition available'),('268882','Arnold-Chiari malformation type I','Morphological anomaly','A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.'),('2689','Intermittent neutropenia','Disease','no definition available'),('268920','Isolated megalencephaly','Clinical subtype','no definition available'),('268926','Midline cerebral malformation','Category','no definition available'),('268936','Isolated arhinencephaly','Morphological anomaly','Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.'),('268940','Bilateral polymicrogyria','Morphological anomaly','Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.'),('268943','Unilateral polymicrogyria','Morphological anomaly','Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms).'),('268947','Unilateral focal polymicrogyria','Clinical subtype','Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.'),('268950','Cerebral cortical dysplasia','Clinical group','no definition available'),('268961','Isolated focal cortical dysplasia type I','Clinical subtype','no definition available'),('268973','Isolated focal cortical dysplasia type Ia','Histopathological subtype','no definition available'),('268980','Isolated focal cortical dysplasia type Ib','Histopathological subtype','no definition available'),('268987','Isolated focal cortical dysplasia type Ic','Histopathological subtype','no definition available'),('268994','Isolated focal cortical dysplasia type II','Clinical subtype','no definition available'),('269','Facioscapulohumeral dystrophy','Disease','Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.'),('2690','Neutropenia-monocytopenia-deafness syndrome','Disease','Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.'),('269001','Isolated focal cortical dysplasia type IIa','Histopathological subtype','no definition available'),('269008','Isolated focal cortical dysplasia type IIb','Histopathological subtype','no definition available'),('2691','Nevo syndrome','Malformation syndrome','no definition available'),('269190','Encephaloclastic disorder','Clinical group','no definition available'),('269194','Central nervous system cystic malformation','Category','no definition available'),('269197','Glioependymal/ependymal cyst','Morphological anomaly','Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).'),('269200','OBSOLETE: Retrocerebellar cyst','Morphological anomaly','no definition available'),('269203','Isolated cerebellar vermis agenesis','Morphological anomaly','A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.'),('269206','Isolated total cerebellar vermis agenesis','Clinical subtype','no definition available'),('269209','Isolated partial cerebellar vermis agenesis','Clinical subtype','no definition available'),('269212','Isolated Dandy-Walker malformation with hydrocephalus','Clinical subtype','no definition available'),('269215','Isolated Dandy-Walker malformation without hydrocephalus','Clinical subtype','no definition available'),('269218','Isolated unilateral hemispheric cerebellar hypoplasia','Morphological anomaly','Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.'),('269221','Isolated bilateral hemispheric cerebellar hypoplasia','Morphological anomaly','Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.'),('269224','Global cerebellar malformation','Category','no definition available'),('269229','Pontine tegmental cap dysplasia','Morphological anomaly','Pontine tegmental cap dysplasia is a rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.'),('2694','OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome','Disease','no definition available'),('2695','Bifid nose','Malformation syndrome','Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.'),('269505','Congenital communicating hydrocephalus','Clinical subtype','no definition available'),('269510','Congenital non-communicating hydrocephalus','Clinical subtype','no definition available'),('269523','Syndrome with a cerebellar malformation as a major feature','Category','no definition available'),('269528','Syndrome with microcephaly as a major feature','Category','no definition available'),('269531','Other syndrome with a central nervous system malformation as a major feature','Category','no definition available'),('269546','Syndrome with a Dandy-Walker malformation as a major feature','Category','no definition available'),('269550','Genetic non-syndromic central nervous system malformation','Category','no definition available'),('269553','Genetic cerebral malformation','Category','no definition available'),('269557','Genetic posterior fossa malformation','Category','no definition available'),('269560','Genetic cerebellar malformation','Category','no definition available'),('269564','Genetic syndrome with a central nervous system malformation as a major feature','Category','no definition available'),('269567','Genetic syndrome with a cerebellar malformation as a major feature','Category','no definition available'),('269570','Genetic syndrome with a Dandy-Walker malformation as a major feature','Category','no definition available'),('269573','Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature','Category','no definition available'),('2697','Arthrogryposis-renal dysfunction-cholestasis syndrome','Malformation syndrome','A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.'),('2698','Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome','Disease','A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.'),('2699','Median nodule of the upper lip','Malformation syndrome','Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.'),('27','Vitamin B12-unresponsive methylmalonic acidemia','Disease','Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).'),('270','Oculopharyngeal muscular dystrophy','Disease','Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.'),('2700','Noma','Disease','Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.'),('2701','Noonan syndrome-like disorder with loose anagen hair','Malformation syndrome','Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.'),('2703','Port-wine nevi-mega cisterna magna-hydrocephalus syndrome','Malformation syndrome','A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.'),('2704','Ochoa syndrome','Malformation syndrome','Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.'),('2705','OBSOLETE: Oculocerebral dysplasia','Malformation syndrome','no definition available'),('2706','OBSOLETE: Oculocerebroacral syndrome','Malformation syndrome','no definition available'),('2707','Oculocerebrofacial syndrome, Kaufman type','Malformation syndrome','Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.'),('2708','OBSOLETE: Oculocerebroosseous syndrome','Malformation syndrome','no definition available'),('2709','Oculodental syndrome, Rutherfurd type','Malformation syndrome','Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.'),('2710','Oculodentodigital dysplasia','Malformation syndrome','Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.'),('2712','Oculofaciocardiodental syndrome','Malformation syndrome','Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.'),('2713','Oculoosteocutaneous syndrome','Malformation syndrome','Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.'),('2714','Oculo-palato-cerebral syndrome','Malformation syndrome','Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.'),('2715','Severe oculo-renal-cerebellar syndrome','Malformation syndrome','no definition available'),('2716','OBSOLETE: Oculo-skeletal-renal syndrome','Malformation syndrome','no definition available'),('2717','Oculotrichoanal syndrome','Malformation syndrome','Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.'),('2718','Oculotrichodysplasia','Malformation syndrome','Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.'),('271832','Genetic soft tissue tumor','Category','no definition available'),('271835','Genetic digestive tract tumor','Category','no definition available'),('271841','Genetic cardiac tumor','Category','no definition available'),('271844','Genetic urogenital tumor','Category','no definition available'),('271847','Genetic neuroendocrine tumor','Category','no definition available'),('271853','Genetic cardiac anomaly','Category','no definition available'),('271861','Hereditary ATTR amyloidosis','Clinical group','no definition available'),('271870','Rare genetic systemic or rheumatologic disease','Category','no definition available'),('2719','Oculocerebral hypopigmentation syndrome, Cross type','Malformation syndrome','Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.'),('272','Congenital muscular dystrophy, Fukuyama type','Malformation syndrome','Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.'),('2720','Oculocerebral hypopigmentation syndrome, Preus type','Malformation syndrome','Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.'),('2721','Odonto-onycho-dermal dysplasia','Disease','Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.'),('2722','Odonto-onycho dysplasia-alopecia syndrome','Malformation syndrome','Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.'),('2723','Odontotrichomelic syndrome','Malformation syndrome','Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.'),('2724','Odontomatosis-aortae esophagus stenosis syndrome','Malformation syndrome','Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.'),('2725','Eye defects-arachnodactyly-cardiopathy syndrome','Malformation syndrome','no definition available'),('2728','Blepharophimosis-intellectual disability syndrome, Ohdo type','Malformation syndrome','Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.'),('2729','Okamoto syndrome','Malformation syndrome','Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.'),('273','Steinert myotonic dystrophy','Disease','Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.'),('2730','Postaxial tetramelic oligodactyly','Malformation syndrome','Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.'),('2731','Taurodontia-absent teeth-sparse hair syndrome','Malformation syndrome','no definition available'),('2732','Olivopontocerebellar atrophy-deafness syndrome','Malformation syndrome','Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.'),('2733','Omodysplasia','Malformation syndrome','Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.'),('2736','Lethal omphalocele-cleft palate syndrome','Malformation syndrome','Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.'),('2737','Onchocerciasis','Disease','A form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (``lizard skin``) and ``hanging groin``, which may be associated with lymphadenopathy.'),('2739','Onycho-tricho-dysplasia-neutropenia syndrome','Disease','no definition available'),('274','Bernard-Soulier syndrome','Disease','Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.'),('2741','Ophthalmomandibulomelic dysplasia','Malformation syndrome','Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.'),('2742','OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome','Disease','no definition available'),('2743','Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome','Malformation syndrome','Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud`s syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.'),('2744','Horizontal gaze palsy with progressive scoliosis','Disease','Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.'),('2745','Opitz G/BBB syndrome','Malformation syndrome','Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS) (see these terms).'),('2746','Opsismodysplasia','Disease','Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.'),('2749','Oromandibular-limb hypogenesis syndrome','Clinical group','Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).'),('275','Severe combined immunodeficiency due to DCLRE1C deficiency','Disease','Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.'),('2750','Orofaciodigital syndrome type 1','Malformation syndrome','Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.'),('2751','Orofaciodigital syndrome type 2','Malformation syndrome','Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.'),('2752','Orofaciodigital syndrome type 3','Malformation syndrome','Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.'),('2753','Orofaciodigital syndrome type 4','Malformation syndrome','Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.'),('2754','Orofaciodigital syndrome type 6','Malformation syndrome','Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.'),('2755','Orofaciodigital syndrome type 8','Malformation syndrome','Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.'),('275517','Autoimmune lymphoproliferative syndrome with recurrent viral infections','Disease','A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.'),('275523','Dianzani autoimmune lymphoproliferative disease','Disease','Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.'),('275534','Myostatin-related muscle hypertrophy','Disease','no definition available'),('275543','L1 syndrome','Malformation syndrome','L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms).'),('275555','Preeclampsia','Disease','Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.'),('2756','Orofaciodigital syndrome type 10','Malformation syndrome','Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.'),('275729','Rare hemorrhagic disorder due to a constitutional thrombocytopenia','Category','no definition available'),('275736','Rare hemorrhagic disorder due to a qualitative platelet defect','Category','no definition available'),('275742','Genetic infertility','Category','no definition available'),('275745','Alpha-thalassemia and related diseases','Category','no definition available'),('275749','Beta-thalassemia and related diseases','Category','no definition available'),('275752','Sickle cell disease and related diseases','Category','no definition available'),('275761','Lysosomal acid lipase deficiency','Disease','A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.'),('275766','Idiopathic pulmonary arterial hypertension','Etiological subtype','Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.'),('275777','Heritable pulmonary arterial hypertension','Etiological subtype','Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.'),('275786','Drug- or toxin-induced pulmonary arterial hypertension','Clinical group','Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.'),('275791','Pulmonary arterial hypertension associated with another disease','Category','Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH (see this term); connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia (see these terms),which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.'),('275798','Pulmonary arterial hypertension associated with connective tissue disease','Clinical group','Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.'),('275803','Pulmonary arterial hypertension associated with congenital heart disease','Clinical group','Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.'),('275808','Pulmonary arterial hypertension associated with HIV infection','Clinical group','Pulmonary arterial hypertension (PAH, see this entry) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.'),('275813','Pulmonary arterial hypertension associated with portal hypertension','Clinical group','Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.'),('275823','Pulmonary arterial hypertension associated with schistosomiasis','Clinical group','Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis (see this term).'),('275828','Pulmonary arterial hypertension associated with chronic hemolytic anemia','Clinical group','Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH (see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.'),('275837','Pulmonary hypertension owing to lung disease and/or hypoxia','Clinical group','no definition available'),('275844','Pulmonary hypertension with unclear multifactorial mechanism','Clinical group','no definition available'),('275853','Syndrome with pulmonary hypertension as a major feature','Category','no definition available'),('275864','Behavioral variant of frontotemporal dementia','Disease','Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.'),('275872','Frontotemporal dementia with motor neuron disease','Disease','Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.'),('2759','Imperforate oropharynx-costovertebral anomalies syndrome','Malformation syndrome','Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.'),('275938','Hemolytic disease due to fetomaternal alloimmunization','Category','no definition available'),('275944','Hemolytic disease of the newborn with Kell alloimmunization','Disease','A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.'),('276','T-B+ severe combined immunodeficiency due to gamma chain deficiency','Disease','Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.'),('2760','OSLAM syndrome','Malformation syndrome','OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.'),('276058','Genetic neurodegenerative disease with dementia','Category','no definition available'),('276061','Genetic frontotemporal degeneration with dementia','Category','no definition available'),('276066','Bile acid CoA ligase deficiency and defective amidation','Disease','Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis (see this term) characterized by fat malabsorption, neonatal cholestasis and growth failure.'),('276142','Rare tumor of salivary glands','Category','no definition available'),('276145','Malignant epithelial tumor of salivary glands','Disease','Malignant epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, ranging from clinically asymptomatic, slow-growing, painless mass(es), that may or may not be fixed to underlying skin or muscles, to rapidly growing mass(es) associated with pain, facial weakness/nerve palsy, otorrhoea, dysphagia, palatal/parapharyngeal fullness, nasal obstruction/bleeding, voice hoarseness/change, dyspnea, trismus, palate bone erosion, telangiectasia, mucosal/skin ulceration and/or cervical adenopathy.'),('276148','Benign epithelial tumor of salivary glands','Disease','Benign epithelial tumor of salivary glands is a rare neoplastic disease characterized by the presence of a tumor located in the parotid, sublingual, submandibular and/or minor salivary glands, which presents with a wide spectrum of clinical features depending on the location, size and type of salivary gland involved, usually manifesting as a slow-growing, painless, commonly solitary mass, rarely associated with facial nerve palsy or nasal/airway obstruction.'),('276152','Multiple endocrine neoplasia type 4','Disease','Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.'),('276161','Multiple endocrine neoplasia','Clinical group','Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.'),('276174','Idiopathic recurrent stupor','Disease','A rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.'),('276183','Spinocerebellar ataxia type 32','Disease','An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.'),('276193','Spinocerebellar ataxia type 35','Disease','An autosomal dominant cerebellar ataxia type 1 that is characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor of hands, hyperreflexia and spasmodic torticollis.'),('276198','Spinocerebellar ataxia type 36','Disease','An autosomal dominant cerebellar ataxia type 1 that characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.'),('2762','Progressive osseous heteroplasia','Malformation syndrome','Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.'),('276212','Mucopolysaccharidosis type 6, rapidly progressing','Clinical subtype','no definition available'),('276223','Mucopolysaccharidosis type 6, slowly progressing','Clinical subtype','no definition available'),('276234','Non-syndromic male infertility due to sperm motility disorder','Disease','Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.'),('276238','Machado-Joseph disease type 1','Clinical subtype','Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.'),('276241','Machado-Joseph disease type 2','Clinical subtype','Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.'),('276244','Machado-Joseph disease type 3','Clinical subtype','Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.'),('276249','OBSOLETE: Xeroderma pigmentosum complementation group A','Clinical subtype','no definition available'),('276252','OBSOLETE: Xeroderma pigmentosum complementation group B','Clinical subtype','no definition available'),('276255','OBSOLETE: Xeroderma pigmentosum complementation group C','Clinical subtype','no definition available'),('276258','OBSOLETE: Xeroderma pigmentosum complementation group D','Clinical subtype','no definition available'),('276261','OBSOLETE: Xeroderma pigmentosum complementation group E','Clinical subtype','no definition available'),('276264','OBSOLETE: Xeroderma pigmentosum complementation group F','Clinical subtype','no definition available'),('276267','OBSOLETE: Xeroderma pigmentosum complementation group G','Clinical subtype','no definition available'),('276271','NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia','Biological anomaly','no definition available'),('276280','Hemihyperplasia-multiple lipomatosis syndrome','Malformation syndrome','Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.'),('2763','Osteocraniostenosis','Malformation syndrome','Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.'),('276399','Familial multinodular goiter','Disease','no definition available'),('2764','Osteochondritis dissecans','Disease','Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.'),('276402','Limbic encephalitis with caspr2 antibodies','Disease','Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.'),('276405','Hyperbiliverdinemia','Disease','Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.'),('276413','10q22.3q23.3 microdeletion syndrome','Malformation syndrome','10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.'),('276422','10q22.3q23.3 microduplication syndrome','Malformation syndrome','10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.'),('276429','Hypnic headache','Disease','A rare headache characterized by recurrent brief, intense headache attacks occurring exclusively during sleep, typically at the same time of the night, causing the patient to wake up. The pain usually lasts more than 15 minutes after waking. It is mostly bilateral and may be associated with nausea, photophobia, or phonophobia, while characteristically no autonomic symptoms are present.'),('276432','Ogden syndrome','Malformation syndrome','Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.'),('276435','Lower motor neuron syndrome with late-adult onset','Disease','A rare, genetic, motor neuron disease characterized by slowly progressive, predominantly proximal, muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor, and elevated serum creatine kinase at onset and later associates with reduced walking ability and impaired vibration sensation.'),('2765','OBSOLETE: Hypertrichotic osteochondrodysplasia','Malformation syndrome','no definition available'),('276525','Familial hyperinsulinism','Category','no definition available'),('276556','Hyperinsulinism due to UCP2 deficiency','Disease','HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.'),('276575','Autosomal dominant hyperinsulinism due to SUR1 deficiency','Disease','A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually present a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).'),('276580','Autosomal dominant hyperinsulinism due to Kir6.2 deficiency','Disease','A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).'),('276585','Diazoxide-resistant hyperinsulinism','Clinical group','Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism (see this term) caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.'),('276598','Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to SUR1 deficiency. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.'),('276603','Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.'),('276608','Non-insulinoma pancreatogenous hypoglycemia syndrome','Disease','no definition available'),('276621','Sporadic pheochromocytoma/secreting paraganglioma','Disease','A rare, isolated, non-familial pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from extra-adrenal chromaffin tissue (paraganglioma). The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.'),('276624','OBSOLETE: Sporadic pheochromocytoma','Clinical subtype','no definition available'),('276627','OBSOLETE: Sporadic secreting paraganglioma','Clinical subtype','no definition available'),('276630','Symptomatic form of Coffin-Lowry syndrome in female carriers','Malformation syndrome','no definition available'),('2767','Carpotarsal osteochondromatosis','Malformation syndrome','Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.'),('2768','Blount disease','Malformation syndrome','Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.'),('2769','Familial osteodysplasia, Anderson type','Malformation syndrome','Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.'),('277','Severe combined immunodeficiency due to adenosine deaminase deficiency','Disease','Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.'),('2770','Nasu-Hakola disease','Malformation syndrome','Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.'),('2771','Bruck syndrome','Malformation syndrome','Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.'),('2772','Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome','Malformation syndrome','Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.'),('2773','Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome','Malformation syndrome','Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.'),('2774','Multicentric carpo-tarsal osteolysis with or without nephropathy','Malformation syndrome','Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.'),('2775','Autosomal recessive carpotarsal osteolysis','Disease','no definition available'),('2776','Autosomal recessive distal osteolysis syndrome','Malformation syndrome','An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.'),('2777','Osteomesopyknosis','Malformation syndrome','Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.'),('2778','OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis','Clinical subtype','no definition available'),('2779','Osteopathia striata-pigmentary dermopathy-white forelock syndrome','Malformation syndrome','Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.'),('278','OBSOLETE: Corticobasal degeneration','Disease','no definition available'),('2780','Osteopathia striata-cranial sclerosis syndrome','Malformation syndrome','Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.'),('2781','Osteopetrosis and related disorders','Clinical group','Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.'),('2783','Autosomal dominant osteopetrosis type 1','Malformation syndrome','A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.'),('2785','Osteopetrosis with renal tubular acidosis','Disease','Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.'),('2786','Osteoporosis-oculocutaneous hypopigmentation syndrome','Malformation syndrome','Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.'),('2787','Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome','Malformation syndrome','Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.'),('2788','Osteoporosis-pseudoglioma syndrome','Disease','Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.'),('2789','Lateral meningocele syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.'),('279','NON RARE IN EUROPE: Age-related macular degeneration','Disease','no definition available'),('2790','Endosteal hyperostosis, Worth type','Malformation syndrome','Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.'),('2791','Otodental syndrome','Malformation syndrome','Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.'),('2792','Otofaciocervical syndrome','Malformation syndrome','Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.'),('2793','Otoonychoperoneal syndrome','Malformation syndrome','no definition available'),('2794','NON RARE IN EUROPE: Familial otosclerosis','Disease','no definition available'),('2795','Fowler urethral sphincter dysfunction syndrome','Disease','Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.'),('2796','Pachydermoperiostosis','Malformation syndrome','Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.'),('2798','Pachygyria-intellectual disability-epilepsy syndrome','Malformation syndrome','A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.'),('279882','Spasmus nutans','Clinical syndrome','Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.'),('279888','Acute endophthalmitis','Clinical subtype','no definition available'),('279891','Chronic endophthalmitis','Clinical subtype','no definition available'),('279894','Toxic maculopathy due to antimalarial drugs','Disease','Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull`s-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.'),('279897','Primary oculocerebral lymphoma','Disease','Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin`s lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.'),('279904','Primary intraocular lymphoma','Disease','no definition available'),('279911','Primary organ-specific lymphoma','Category','no definition available'),('279914','Intermediate uveitis','Disease','no definition available'),('279919','Infectious posterior uveitis','Disease','no definition available'),('279922','Infectious anterior uveitis','Disease','no definition available'),('279925','Infectious panuveitis','Disease','no definition available'),('279928','Paraneoplastic uveitis','Disease','no definition available'),('279934','Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency','Disease','A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia.'),('279943','Hereditary neutrophilia','Disease','A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspena, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.'),('279947','Postorgasmic illness syndrome','Clinical syndrome','Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.'),('28','Vitamin B12-responsive methylmalonic acidemia','Disease','An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).'),('280','Wolf-Hirschhorn syndrome','Malformation syndrome','A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.'),('2800','Extramammary Paget disease','Disease','no definition available'),('280062','Calciphylaxis','Disease','An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.'),('280065','Calciphylaxis cutis','Clinical subtype','Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.'),('280068','Visceral calciphylaxis','Clinical subtype','Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.'),('280071','ALG11-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).'),('2801','Juvenile Paget disease','Malformation syndrome','Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.'),('280110','NON RARE IN EUROPE: Paget disease of bone','Disease','no definition available'),('280133','Complement component 3 deficiency','Disease','Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.'),('280142','Severe combined immunodeficiency due to LCK deficiency','Disease','A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.'),('280183','Methylmalonic aciduria due to transcobalamin receptor defect','Biological anomaly','Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.'),('280195','Septopreoptic holoprosencephaly','Clinical subtype','Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.'),('2802','X-linked sideroblastic anemia and spinocerebellar ataxia','Disease','A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.'),('280200','Microform holoprosencephaly','Malformation syndrome','Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.'),('280205','Laryngotracheoesophageal cleft type 0','Clinical subtype','Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.'),('280210','Pelizaeus-Merzbacher disease, connatal form','Clinical subtype','The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).'),('280219','Pelizaeus-Merzbacher disease, classic form','Clinical subtype','The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.'),('280224','Pelizaeus-Merzbacher disease, transitional form','Clinical subtype','The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).'),('280229','Pelizaeus-Merzbacher disease in female carriers','Clinical subtype','Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the PLP1 gene (Xq22).'),('280234','Null syndrome','Clinical subtype','The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.'),('280270','Pelizaeus-Merzbacher-like disease','Disease','Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).'),('280282','Pelizaeus-Merzbacher-like disease due to GJC2 mutation','Clinical subtype','no definition available'),('280288','Pelizaeus-Merzbacher-like disease due to HSPD1 mutation','Clinical subtype','no definition available'),('280293','Pelizaeus-Merzbacher-like disease due to AIMP1 mutation','Clinical subtype','no definition available'),('280302','Autoimmune pancreatitis type 1','Clinical subtype','Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.'),('280315','Autoimmune pancreatitis type 2','Clinical subtype','Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.'),('280325','Distal monosomy 12p','Malformation syndrome','A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.'),('280333','Alpha-dystroglycan-related limb-girdle muscular dystrophy R16','Disease','A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.'),('280342','Rare systemic or rheumatological disease of childhood','Category','no definition available'),('280356','PLIN1-related familial partial lipodystrophy','Disease','A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.'),('280365','Autosomal semi-dominant severe lipodystrophic laminopathy','Disease','no definition available'),('280369','Rare pediatric vasculitis','Category','no definition available'),('280373','Rare pediatric systemic disease','Category','no definition available'),('280379','Erythropoietic uroporphyria associated with myeloid malignancy','Disease','A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.'),('280384','Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome','Disease','Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.'),('280397','Familial Alzheimer-like prion disease','Disease','Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.'),('2804','W syndrome','Malformation syndrome','W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.'),('280400','Inherited human prion disease','Category','no definition available'),('280403','Familial omphalocele syndrome with facial dysmorphism','Malformation syndrome','Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.'),('280406','Familial steroid-resistant nephrotic syndrome with sensorineural deafness','Disease','Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.'),('2805','Partial pancreatic agenesis','Morphological anomaly','Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.'),('280553','Fatal infantile hypertonic myofibrillar myopathy','Disease','Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.'),('280558','Warsaw breakage syndrome','Malformation syndrome','no definition available'),('280569','OBSOLETE: Rapidly progressive glomerulonephritis','Disease','no definition available'),('280576','Nestor-Guillermo progeria syndrome','Malformation syndrome','Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.'),('280586','Chondrodysplasia with joint dislocations, gPAPP type','Malformation syndrome','Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.'),('280598','Hereditary sensorimotor neuropathy with hyperelastic skin','Disease','Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatus, dolichocephaly) may also be associated.'),('2806','Subacute sclerosing leukoencephalitis','Disease','A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.'),('280615','Hemoglobinopathy Toms River','Disease','Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gama subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.'),('280620','Progressive myoclonic epilepsy type 6','Disease','A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.'),('280628','Familial progressive hyper- and hypopigmentation','Disease','Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.'),('280633','Multiple congenital anomalies-hypotonia-seizures syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (incl. gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.'),('280640','Occipital pachygyria and polymicrogyria','Malformation syndrome','Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.'),('280651','Acrodysostosis with multiple hormone resistance','Disease','no definition available'),('280654','Autosomal recessive nail dysplasia','Disease','Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.'),('280663','Hermansky-Pudlak syndrome type 9','Clinical subtype','no definition available'),('280671','Megaconial congenital muscular dystrophy','Disease','A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.'),('280679','Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome','Disease','Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.'),('2807','Papilloma of choroid plexus','Disease','Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.'),('280763','Severe intellectual disability and progressive spastic paraplegia','Disease','Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.'),('280774','Generalized essential telangiectasia','Disease','A rare skin disease characterized by widespread cutaneous telangiectases usually first appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or confluent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.'),('280779','Cutaneous collagenous vasculopathy','Disease','Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.'),('280785','Bullous diffuse cutaneous mastocytosis','Clinical subtype','Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.'),('280794','Pseudoxanthomatous diffuse cutaneous mastocytosis','Clinical subtype','Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.'),('2808','Laryngeal abductor paralysis','Malformation syndrome','no definition available'),('280802','Intralobar congenital pulmonary sequestration','Clinical subtype','no definition available'),('280811','Extralobar congenital pulmonary sequestration','Clinical subtype','no definition available'),('280821','Communicating congenital bronchopulmonary-foregut malformation','Clinical subtype','no definition available'),('280827','Congenital pulmonary airway malformation type 0','Clinical subtype','no definition available'),('280832','Congenital pulmonary airway malformation type 1','Clinical subtype','no definition available'),('280840','Congenital pulmonary airway malformation type 2','Clinical subtype','no definition available'),('280847','Congenital pulmonary airway malformation type 3','Clinical subtype','no definition available'),('280854','Congenital pulmonary airway malformation type 4','Clinical subtype','no definition available'),('280886','Anterior uveitis','Category','no definition available'),('280892','Posterior uveitis','Category','no definition available'),('280898','Panuveitis','Category','no definition available'),('2809','Familial recurrent peripheral facial palsy','Disease','Familial recurrent peripheral facial palsy is a rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell`s phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors.'),('280914','Idiopathic anterior uveitis','Disease','no definition available'),('280917','Idiopathic posterior uveitis','Disease','Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.'),('280921','Idiopathic panuveitis','Disease','Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.'),('280926','Systemic diseases with anterior uveitis','Category','no definition available'),('280930','Systemic diseases with posterior uveitis','Category','no definition available'),('280933','Systemic diseases with panuveitis','Category','no definition available'),('281','Monosomy 5p','Malformation syndrome','A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.'),('2810','NON RARE IN EUROPE: Idiopathic facial palsy','Disease','no definition available'),('281082','Inherited non-syndromic ichthyosis','Category','no definition available'),('281085','Inherited ichthyosis syndromic form','Category','no definition available'),('281090','Syndromic recessive X-linked ichthyosis','Disease','Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.'),('281097','Autosomal recessive congenital ichthyosis','Clinical group','no definition available'),('281103','Keratinopathic ichthyosis','Clinical group','no definition available'),('281122','Self-improving collodion baby','Disease','Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.'),('281127','Acral self-healing collodion baby','Disease','A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.'),('281139','Annular epidermolytic ichthyosis','Disease','A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.'),('281190','Congenital reticular ichthyosiform erythroderma','Disease','no definition available'),('2812','Parana hard skin syndrome','Disease','Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.'),('281201','Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome','Disease','Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.'),('281210','X-linked ichthyosis syndrome','Clinical group','no definition available'),('281217','Autosomal ichthyosis syndrome','Category','no definition available'),('281222','Autosomal ichthyosis syndrome with prominent hair abnormalities','Category','no definition available'),('281234','OBSOLETE: Congenital ichthyosis with trichothiodystrophy','Clinical group','no definition available'),('281238','Autosomal ichthyosis syndrome with prominent neurologic signs','Category','no definition available'),('281241','Autosomal ichthyosis syndrome with fatal disease course','Category','no definition available'),('281244','Autosomal ichthyosis syndrome with other associated signs','Category','no definition available'),('2815','Spastic paraparesis-deafness syndrome','Malformation syndrome','A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.'),('2816','Spastic paraplegia-epilepsy-intellectual disability syndrome','Disease','no definition available'),('2818','Spastic paraplegia-glaucoma-intellectual disability syndrome','Disease','Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.'),('2819','Spastic paraplegia-facial-cutaneous lesions syndrome','Malformation syndrome','A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.'),('282','Frontotemporal dementia','Clinical group','Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).'),('2820','Spastic paraplegia-nephritis-deafness syndrome','Clinical syndrome','Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988.'),('2821','Spastic paraplegia-neuropathy-poikiloderma syndrome','Disease','A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.'),('282124','Partial deletion of chromosome 12','Category','no definition available'),('282166','Inherited Creutzfeldt-Jakob disease','Disease','Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.'),('282196','Autoimmune polyendocrinopathy','Clinical group','no definition available'),('2822','Autosomal recessive spastic paraplegia type 11','Disease','A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.'),('2823','OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome','Malformation syndrome','no definition available'),('2824','Paraplegia-intellectual disability-hyperkeratosis syndrome','Malformation syndrome','A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis.'),('2825','PARC syndrome','Malformation syndrome','PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.'),('2826','Spastic paraplegia-precocious puberty syndrome','Disease','Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.'),('2828','Young-onset Parkinson disease','Disease','Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.'),('2829','Partington-Anderson syndrome','Malformation syndrome','no definition available'),('283','Demodicidosis','Disease','Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.'),('2831','Rhizomelic dysplasia, Patterson-Lowry type','Malformation syndrome','Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.'),('2832','Short tarsus-absence of lower eyelashes syndrome','Malformation syndrome','Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.'),('2833','Stiff skin syndrome','Disease','Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.'),('2834','Wrinkly skin syndrome','Clinical subtype','Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).'),('2835','Pectus excavatum-macrocephaly-dysplastic nails syndrome','Malformation syndrome','Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.'),('2836','PEHO syndrome','Disease','PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.'),('2837','Pellagra-like skin rash-neurological manifestations syndrome','Disease','no definition available'),('28378','Tyrosinemia type 2','Disease','Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.'),('2838','Renal caliceal diverticuli-deafness syndrome','Malformation syndrome','Renal caliceal diverticuli-deafness syndrome is a rare, syndromic, developmental defect during embryogenesis characterized by urinary tract and kidney anomalies, such as renal pelviocaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981.'),('2839','Pelvis-shoulder dysplasia','Malformation syndrome','Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.'),('284','Alveolar echinococcosis','Disease','A rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.'),('2840','Pelvic dysplasia-arthrogryposis of lower limbs syndrome','Malformation syndrome','Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.'),('2841','Familial benign chronic pemphigus','Disease','Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).'),('284130','NON RARE IN EUROPE: Rheumatoid arthritis','Disease','no definition available'),('284139','Larsen-like syndrome, B3GAT3 type','Malformation syndrome','Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.'),('284149','Craniosynostosis-dental anomalies','Malformation syndrome','Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.'),('284160','8q21.11 microdeletion syndrome','Malformation syndrome','8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid`s bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.'),('284169','Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion','Clinical subtype','Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.'),('284180','Xp22.13p22.2 duplication syndrome','Malformation syndrome','Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.'),('2842','Penoscrotal transposition','Morphological anomaly','Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).'),('284227','TEMPI syndrome','Clinical syndrome','TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.'),('284232','Autosomal dominant Charcot-Marie-Tooth disease type 2O','Disease','A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.'),('284247','Familial retinal arterial macroaneurysm','Malformation syndrome','Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.'),('284264','IgG4-related disease','Clinical group','no definition available'),('284271','Autosomal recessive cerebellar ataxia-psychomotor delay syndrome','Disease','A rare, hereditary, cerebellar ataxia disorder characterized by late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia, and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging.'),('284282','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency','Disease','A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.'),('284289','Adult-onset autosomal recessive cerebellar ataxia','Disease','A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.'),('2843','Pentosuria','Disease','Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.'),('284324','Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia','Disease','A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.'),('284332','Infantile-onset autosomal recessive nonprogressive cerebellar ataxia','Disease','A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.'),('284339','Pontocerebellar hypoplasia type 7','Malformation syndrome','Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.'),('284343','Pleuropulmonary blastoma familial tumor susceptibility syndrome','Clinical subtype','no definition available'),('284362','Fetal lung interstitial tumor','Clinical subtype','no definition available'),('284385','Familial intrahepatic cholestasis','Category','no definition available'),('284388','Reversible cerebral vasoconstriction syndrome','Clinical syndrome','Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.'),('284395','Well-differentiated fetal adenocarcinoma of the lung','Disease','Well-differentiated fetal adenocarcinoma of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.'),('284400','Small cell carcinoma of the bladder','Disease','Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course.'),('284408','Glycerol kinase deficiency, infantile form','Clinical subtype','Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.'),('284411','Glycerol kinase deficiency, juvenile form','Clinical subtype','Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.'),('284414','Glycerol kinase deficiency, adult form','Clinical subtype','A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.'),('284417','Phosphoserine aminotransferase deficiency, infantile/juvenile form','Etiological subtype','Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.'),('284426','Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency','Clinical subtype','no definition available'),('284435','Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency','Clinical subtype','no definition available'),('284448','CLIPPERS','Disease','CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology.'),('284454','Acute zonal occult outer retinopathy','Disease','A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.'),('284460','Acute annular outer retinopathy','Disease','A rare, acquired retinal disorder characterized by unilateral, acute onset, rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning, and normal retina. Gradual spontaneous visual recovery has been observed.'),('28455','OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus','Disease','no definition available'),('2846','Congenital pericardium anomaly','Category','Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst) (see these terms).'),('2847','Pericardial and diaphragmatic defect','Malformation syndrome','Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.'),('284786','Qualitative or quantitative defects of troponin','Category','no definition available'),('284790','Qualitative or quantitative defects of tropomyosin','Category','no definition available'),('2848','Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome','Disease','Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.'),('284804','Ocular albinism','Clinical group','no definition available'),('284811','Syndromic oculocutaneous albinism','Category','no definition available'),('284814','Disorder of phenylalanine metabolism','Category','no definition available'),('284818','Disorder of tyrosine metabolism','Category','no definition available'),('2849','Perlman syndrome','Malformation syndrome','Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.'),('284963','Marfan syndrome type 1','Clinical subtype','no definition available'),('284973','Marfan syndrome type 2','Clinical subtype','no definition available'),('284979','Neonatal Marfan syndrome','Disease','Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a `senile` facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.'),('284984','Aneurysm-osteoarthritis syndrome','Disease','A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.'),('284993','Marfan and Marfan-related disorders','Category','no definition available'),('285','Hypermobile Ehlers-Danlos syndrome','Disease','Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.'),('2850','Alopecia-intellectual disability syndrome','Disease','An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.'),('285014','Rare disease with thoracic aortic aneurysm and aortic dissection','Category','no definition available'),('2853','Serpentine fibula-polycystic kidneys syndrome','Disease','no definition available'),('2854','Fuhrmann syndrome','Malformation syndrome','Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.'),('2855','Perrault syndrome','Disease','Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.'),('2856','Persistent Müllerian duct syndrome','Malformation syndrome','Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.'),('285657','Disorder of folate metabolism and transport','Category','no definition available'),('286','Vascular Ehlers-Danlos syndrome','Disease','A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.'),('2860','OBSOLETE: Preeyasombat-Varavithya syndrome','Malformation syndrome','no definition available'),('2861','OBSOLETE: Short stature-microcephaly-heart defect syndrome','Malformation syndrome','no definition available'),('2863','Short stature-wormian bones-dextrocardia syndrome','Malformation syndrome','A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).'),('2864','OBSOLETE: Short stature-prognathism-short femoral necks syndrome','Malformation syndrome','no definition available'),('2865','Short stature-webbed neck-heart disease syndrome','Malformation syndrome','Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.'),('2866','Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome','Malformation syndrome','A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.'),('2867','Short stature, Brussels type','Malformation syndrome','This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.'),('2868','Short stature-valvular heart disease-characteristic facies syndrome','Malformation syndrome','Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.'),('2869','Peutz-Jeghers syndrome','Disease','A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.'),('287','Classical Ehlers-Danlos syndrome','Disease','A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.'),('2870','NON RARE IN EUROPE: Peyronie syndrome','Disease','no definition available'),('2871','Pfeiffer-Palm-Teller syndrome','Malformation syndrome','Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.'),('2872','Cardiocranial syndrome, Pfeiffer type','Malformation syndrome','A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.'),('2874','Phakomatosis pigmentokeratotica','Malformation syndrome','Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.'),('2875','Phakomatosis pigmentovascularis','Disease','no definition available'),('2876','PHAVER syndrome','Malformation syndrome','Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.'),('2878','Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome','Malformation syndrome','Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.'),('2879','Phocomelia, Schinzel type','Malformation syndrome','Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.'),('288','Hereditary elliptocytosis','Disease','Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.'),('2880','Phosphoenolpyruvate carboxykinase deficiency','Disease','Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.'),('2881','Cutaneous photosensitivity-lethal colitis syndrome','Disease','Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease (see this term) characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.'),('2882','Sitosterolemia','Disease','Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.'),('2884','Piebaldism','Disease','Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.'),('2885','Piebald trait-neurologic defects syndrome','Malformation syndrome','Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.'),('2886','TARP syndrome','Malformation syndrome','TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.'),('2888','Pierre Robin syndrome-faciodigital anomaly syndrome','Malformation syndrome','This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.'),('2889','Pili torti','Disease','Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).'),('289','Ellis Van Creveld syndrome','Malformation syndrome','Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.'),('2890','Pili torti-onychodysplasia syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.'),('289098','Disorders of vitamin D metabolism','Category','no definition available'),('2891','Pili torti-developmental delay-neurological abnormalities syndrome','Malformation syndrome','Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.'),('289103','Hypocalcemic rickets','Clinical group','Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms).'),('289157','Hypocalcemic vitamin D-dependent rickets','Disease','Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.'),('289176','Autosomal recessive hypophosphatemic rickets','Disease','A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.'),('2892','Pilodental dysplasia-refractive errors syndrome','Malformation syndrome','Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.'),('289266','Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation','Disease','Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.'),('289290','Hypermethioninemia encephalopathy due to adenosine kinase deficiency','Disease','Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.'),('289307','Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency','Disease','Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.'),('289326','Tropical spastic paraparesis','Disease','Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.'),('289347','Infective dermatitis associated with HTLV-1','Disease','Infective dermatitis associated with HTLV-1 is a rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see these terms).'),('289356','Primary non-gestational choriocarcinoma of ovary','Disease','Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor (see this term), arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma (see this term) and hence should be distinguished from the latter by DNA polymorphism.'),('289362','Non-central nervous system-localized embryonal carcinoma','Clinical subtype','no definition available'),('289365','Familial vesicoureteral reflux','Malformation syndrome','Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.'),('289377','Early-onset myopathy with fatal cardiomyopathy','Disease','A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life.'),('289380','Myosclerosis','Disease','Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.'),('289385','Malignancy diagnosed during pregnancy','Particular clinical situation in a disease or syndrome','no definition available'),('289390','Primary Sjögren syndrome','Disease','A rare systemic autoimmune disease characterized by exocrine gland dysfunction, resulting predominately in keratoconjunctivitis sicca and xerostomia, but also affecting exocrine glands of the skin, as well as respiratory, urogenital, and digestive tract. Extraglandular manifestations include arthritis, interstitial lung disease, renal disease, and peripheral neuropathy. The disease is accompanied by a substantially increased risk to develop B-cell non-Hodgkin lymphoma, especially MALT (mucosa-associated lymphoid tissue) lymphoma.'),('289395','NON RARE IN EUROPE: Secondary Sjögren syndrome','Disease','no definition available'),('2894','OBSOLETE: Pilotto syndrome','Malformation syndrome','no definition available'),('289465','Isolated congenital adermatoglyphia','Disease','Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.'),('289478','Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome','Disease','A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.'),('289483','Intellectual disability-alacrima-achalasia syndrome','Disease','Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.'),('289494','4H leukodystrophy','Disease','A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.'),('289499','Congenital cataract microcornea with corneal opacity','Malformation syndrome','no definition available'),('2895','Pinsky-Di George-Harley syndrome','Malformation syndrome','no definition available'),('289504','Combined malonic and methylmalonic acidemia','Disease','Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.'),('289513','12q15q21.1 microdeletion syndrome','Malformation syndrome','12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.'),('289522','Microtriplication 11q24.1','Malformation syndrome','Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.'),('289527','OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency','Disease','no definition available'),('289539','BAP1-related tumor predisposition syndrome','Disease','BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.'),('289548','Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency','Disease','Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.'),('289553','Dysmorphism-conductive hearing loss-heart defect syndrome','Malformation syndrome','Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid`s bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.'),('289560','Mitochondrial membrane protein-associated neurodegeneration','Disease','A rare neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.'),('289573','Multiple mitochondrial dysfunctions syndrome','Clinical group','Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.'),('289586','Exfoliative ichthyosis','Disease','Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.'),('289596','Juvenile nasopharyngeal angiofibroma','Disease','Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.'),('2896','Pitt-Hopkins syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by the association of intellectual deficit, characteristic facial morphology and problems of abnormal and irregular breathing.'),('289601','Hereditary arterial and articular multiple calcification syndrome','Disease','Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.'),('289635','Rare virus associated tumor','Category','no definition available'),('289638','Epstein-Barr Virus-related tumor','Category','no definition available'),('289644','Epstein-Barr virus-associated malignant lymphoproliferative disorder','Category','no definition available'),('289651','Epstein-Barr Virus-associated carcinoma','Category','no definition available'),('289656','Epstein-Barr Virus-associated mesenchymal tumor','Category','no definition available'),('289661','Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly','Disease','Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.'),('289666','Plasmablastic lymphoma','Disease','no definition available'),('289682','Lymphoepithelial-like carcinoma','Disease','Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.'),('289685','Myopericytoma','Disease','A rare soft tissue tumor characterized by a benign subcutaneous lesion composed of oval-to-spindle shaped myoid appearing cells with a tendency for concentric perivascular growth. The tumor usually presents as a painless, slowly growing nodule, which may be solitary or appear as multiple lesions, which then arise metachronously and usually involve a particular anatomic region. Recurrence after surgical excision may occur in poorly circumscribed tumors. Malignancy is very rare.'),('2897','Pityriasis rubra pilaris','Disease','Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.'),('2898','X-linked intellectual disability-plagiocephaly syndrome','Malformation syndrome','A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.'),('289825','Late-onset primary lymphedema without systemic or visceral involvement','Clinical group','no definition available'),('289829','Disorder of tryptophan metabolism','Category','no definition available'),('289832','Disorder of lysine and hydroxylysine metabolism','Category','no definition available'),('289841','Disorder of glutamine metabolism','Category','no definition available'),('289846','Glutathione synthetase deficiency with 5-oxoprolinuria','Clinical subtype','no definition available'),('289849','Glutathione synthetase deficiency without 5-oxoprolinuria','Clinical subtype','no definition available'),('289857','Neonatal glycine encephalopathy','Clinical subtype','Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.'),('289860','Infantile glycine encephalopathy','Clinical subtype','Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures.'),('289863','Atypical glycine encephalopathy','Clinical subtype','A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.'),('289866','Disorder of proline metabolism','Category','no definition available'),('289869','Disorder of ornithine metabolism','Category','no definition available'),('289877','Transient hyperammonemia of the newborn','Particular clinical situation in a disease or syndrome','no definition available'),('289891','Hypermethioninemia due to glycine N-methyltransferase deficiency','Disease','Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.'),('289899','Organic aciduria','Category','no definition available'),('2899','Brachyolmia-amelogenesis imperfecta syndrome','Malformation syndrome','An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.'),('289902','3-methylglutaconic aciduria','Clinical group','no definition available'),('289916','Vitamin B12-unresponsive methylmalonic acidemia type mut0','Clinical subtype','Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.'),('29','Mevalonic aciduria','Disease','A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.'),('290','Congenital rubella syndrome','Disease','An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.'),('2900','Leri pleonosteosis','Malformation syndrome','Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a `spade-shaped` appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.'),('2901','Neuralgic amyotrophy','Disease','Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.'),('2902','Idiopathic chronic eosinophilic pneumonia','Disease','Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).'),('2903','Familial spontaneous pneumothorax','Disease','Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.'),('2905','POEMS syndrome','Disease','POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.'),('2907','Hereditary acrokeratotic poikiloderma','Disease','no definition available'),('29072','Hereditary pheochromocytoma-paraganglioma','Disease','A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.'),('29073','Multiple myeloma','Disease','Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).'),('2908','Kindler syndrome','Disease','Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.'),('290836','Systemic disease with skin involvement','Category','no definition available'),('290839','Autoinflammatory syndrome with immune deficiency','Category','no definition available'),('290842','Autoinflammatory syndrome with skin involvement','Category','no definition available'),('290849','Rare head and neck tumor','Category','no definition available'),('2909','Rothmund-Thomson syndrome','Disease','Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.'),('291','Congenital varicella syndrome','Disease','Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.'),('2911','Poland syndrome','Malformation syndrome','A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper arm defects.'),('2912','Poliomyelitis','Disease','Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.'),('2913','Non-syndromic polydactyly','Category','no definition available'),('2916','Postaxial polydactyly-dental and vertebral anomalies syndrome','Malformation syndrome','Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.'),('2917','Polydactyly-myopia syndrome','Malformation syndrome','Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.'),('2919','Orofaciodigital syndrome type 5','Malformation syndrome','Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).'),('292','Congenital enterovirus infection','Disease','An infectious embryofetopathy including coxsackie viruses and ECHO viruses that have been reported to cause spontaneous abortion, stillbirth, acute systemic illness in the newborn, and possibly fetal malformations.'),('2920','Oliver syndrome','Malformation syndrome','Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.'),('29207','Reactive arthritis','Disease','Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.'),('2921','Preaxial polydactyly-colobomata-intellectual disability syndrome','Malformation syndrome','Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.'),('2924','Isolated polycystic liver disease','Malformation syndrome','Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).'),('2925','OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome','Malformation syndrome','no definition available'),('2926','Digital extensor muscle aplasia-polyneuropathy','Malformation syndrome','Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.'),('2928','Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome','Malformation syndrome','Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.'),('2929','Juvenile polyposis syndrome','Disease','A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.'),('293','Congenital herpes simplex virus infection','Disease','Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.'),('2930','Cronkhite-Canada syndrome','Disease','Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.'),('293144','Familial clubfoot due to 5q31 microdeletion','Etiological subtype','no definition available'),('293150','Familial clubfoot due to PITX1 point mutation','Etiological subtype','no definition available'),('293165','Skin fragility-woolly hair-palmoplantar keratoderma syndrome','Disease','Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.'),('293168','Infantile-onset ascending hereditary spastic paralysis','Disease','Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.'),('293173','Acute generalized exanthematous pustulosis','Disease','A rare toxic dermatosis disease characterized by the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an edematous and erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Acute onset of fever (>38°C), peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Histologically reveals characteristic spongiform, subcorneal and/or intraepidermal, pustules, as well as marked edema of the papillary dermis, a perivascularly accentuated, neutrophil-rich inflammatory infiltrate, and intrapustular or intradermal eosinophils.'),('293181','Malignant migrating focal seizures of infancy','Disease','A rare, genetic, neonatal epilepsy syndrome disease characterized by onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development, and usually early mortality.'),('293190','OBSOLETE: Pleomorphic undifferentiated sarcoma','Disease','no definition available'),('293199','Pleomorphic rhabdomyosarcoma','Clinical subtype','A rare soft tissue sarcoma characterized by a high-grade lesion occurring almost exclusively in adults, composed of bizarre polygonal, round, and spindle cells with evidence of smooth muscle differentiation. Patients usually present with a rapidly growing, painful mass located in the deep soft tissues of the extremities, but also other anatomic regions. Prognosis is generally poor.'),('2932','Chronic inflammatory demyelinating polyneuropathy','Disease','A chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.'),('293202','Epithelioid sarcoma','Disease','Epithelioid sarcoma is a rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.'),('293208','Celiac artery compression syndrome','Disease','A rare disease caused by compression of the celiac axis by an abnormally shaped arcuate ligament (the part of the diaphragm in which both pillars join in the midline around the aorta). Patients have recurrent abdominal pain, anorexia and weight loss. The pain is epigastric, and diarrhea or constipation may be present as well. Onset of pain will usually, although not always, be after food intake, and may be associated with nausea and emesis. Other symptoms may include lassitude, exercise intolerance and vomiting. Occasionally, a patient may show an abdominal murmur upon auscultation.'),('293284','Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria','Clinical subtype','Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.'),('293355','Methylmalonic acidemia without homocystinuria','Clinical group','Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.'),('293375','Grayson-Wilbrandt corneal dystrophy','Disease','Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.'),('293381','Epithelial recurrent erosion dystrophy','Disease','Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.'),('2934','Polysyndactyly-cardiac malformation syndrome','Malformation syndrome','Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).'),('293462','Pre-Descemet corneal dystrophy','Disease','Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.'),('2935','Crossed polysyndactyly','Malformation syndrome','A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.'),('293603','Congenital hereditary endothelial dystrophy type II','Disease','Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.'),('293621','X-linked endothelial corneal dystrophy','Disease','X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.'),('293633','PYCR1-related De Barsy syndrome','Etiological subtype','no definition available'),('293642','Blepharophimosis-intellectual disability syndrome','Clinical group','no definition available'),('293707','Blepharophimosis-intellectual disability syndrome, MKB type','Malformation syndrome','A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.'),('293725','Blepharophimosis-intellectual disability syndrome, Verloes type','Malformation syndrome','Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.'),('293807','Ketamine-induced biliary dilatation','Disease','Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.'),('293812','Fixed drug eruption','Disease','Fixed drug eruption is a rare toxic dermatosis disorder characterized by the appearance of a drug-induced rash which typically manifests with small (diameter less than 8 cm), erythematous, round, sometimes painful, plaques that result in long-lasting pigmentation and which recurr (usually at the same site) upon reexposure to the causative medication.'),('293815','Toxic dermatosis','Category','no definition available'),('293822','MITF-related melanoma and renal cell carcinoma predisposition syndrome','Disease','MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.'),('293825','Congenital dyserythropoietic anemia type IV','Disease','Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.'),('293830','Constitutional dyserythropoietic anemia','Category','no definition available'),('293838','Fatal infantile encephalopathy-pulmonary hypertension syndrome','Disease','no definition available'),('293843','3MC syndrome','Malformation syndrome','3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.'),('293848','Frontotemporal dementia, right temporal atrophy variant','Disease','Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.'),('293864','Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome','Malformation syndrome','Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.'),('293888','Familial isolated arrhythmogenic ventricular dysplasia, left dominant form','Clinical subtype','no definition available'),('293899','Familial isolated arrhythmogenic ventricular dysplasia, biventricular form','Clinical subtype','no definition available'),('293910','Familial isolated arrhythmogenic ventricular dysplasia, right dominant form','Clinical subtype','no definition available'),('293925','Lethal occipital encephalocele-skeletal dysplasia syndrome','Malformation syndrome','Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.'),('293936','EDICT syndrome','Disease','EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.'),('293939','Distal Xq28 microduplication syndrome','Malformation syndrome','Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.'),('293948','1p21.3 microdeletion syndrome','Malformation syndrome','1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).'),('293955','Childhood encephalopathy due to thiamine pyrophosphokinase deficiency','Disease','Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.'),('293958','Hypertelorism-preauricular sinus-punctual pits-deafness syndrome','Malformation syndrome','Hypertelorism-preauricular sinus-punctual pits-deafness syndrome is a rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.'),('293964','Hypoinsulinemic hypoglycemia and body hemihypertrophy','Disease','Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.'),('293967','Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome','Malformation syndrome','Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.'),('293978','Deficiency in anterior pituitary function-variable immunodeficiency syndrome','Disease','Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.'),('293987','Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome','Disease','A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.'),('294','Fetal cytomegalovirus syndrome','Disease','A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus in utero. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.'),('2940','Porencephaly','Disease','A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.'),('294016','Microcephaly-capillary malformation syndrome','Malformation syndrome','Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.'),('294023','Neonatal inflammatory skin and bowel disease','Disease','Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.'),('294026','Syndactyly-nystagmus syndrome due to 2q31.1 microduplication','Malformation syndrome','A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.'),('294049','Reunion Island Larsen-like syndrome','Disease','A rare, genetic, congenital disorder of glycosylation characterized by severe, pre- and post-natal short stature, joint hyperlaxity with multiple dislocations (elbows, fingers, hips, knees), and facial dysmorphism (round flat face, high forehead, hypertelorism, prominent bulging eyes with under-eye shadows, hypoplastic midface, microstomia, protruding lips). Other associated features may include cutaneous hyperextensibility, learning difficulties, and ocular abnormalities. Advanced carpal ossification, widened metaphyses, and, occasionally, radioulnar synostosis, scoliosis and a Swedish key appearance of the proximal femora, is observed on imaging.'),('294057','Rare nevus','Category','no definition available'),('294060','Multiple pterygium syndrome','Clinical group','no definition available'),('2941','Porencephaly-cerebellar hypoplasia-internal malformations syndrome','Malformation syndrome','Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.'),('2942','Postpoliomyelitis syndrome','Disease','Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.'),('294415','Renal-hepatic-pancreatic dysplasia','Malformation syndrome','Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes.'),('294422','Chronic intestinal failure','Clinical syndrome','Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).'),('2946','Brachydactyly-long thumb syndrome','Malformation syndrome','Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.'),('2947','Triphalangeal thumbs-brachyectrodactyly syndrome','Malformation syndrome','Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.'),('294925','Amelia','Clinical group','no definition available'),('294927','Intercalary limb defects','Clinical group','no definition available'),('294929','OBSOLETE: Terminal limb defects','Clinical group','no definition available'),('294931','OBSOLETE: Adactyly of hand','Clinical group','no definition available'),('294935','OBSOLETE: Split hand or/and split foot malformation','Clinical group','no definition available'),('294937','OBSOLETE: Brachydactyly','Clinical group','no definition available'),('294939','OBSOLETE: Preaxial polydactyly of fingers','Clinical group','no definition available'),('294942','OBSOLETE: Postaxial polydactyly of fingers','Clinical group','no definition available'),('294944','Congenital deformities of limbs','Category','no definition available'),('294947','Congenital deformities of fingers','Category','no definition available'),('294949','Joint formation defects','Category','no definition available'),('294951','Congenital joint dislocations','Category','no definition available'),('294953','Non syndromic limb overgrowth','Category','no definition available'),('294955','Syndrome with limb reduction defects','Category','no definition available'),('294957','Dysostosis with combined reduction defects of upper and lower limbs','Category','no definition available'),('294959','Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy','Category','no definition available'),('294961','OBSOLETE: Syndromes with synostoses of limbs','Clinical group','no definition available'),('294963','Popliteal pterygium syndrome','Clinical group','no definition available'),('294965','Lethal congenital contracture syndrome','Clinical group','no definition available'),('294967','Amelia of upper limb','Morphological anomaly','A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.'),('294969','Amelia of lower limb','Morphological anomaly','A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.'),('294971','Tetra-amelia','Morphological anomaly','A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.'),('294973','Humeral agenesis/hypoplasia','Morphological anomaly','Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.'),('294975','Congenital absence of upper arm and forearm with hand present','Morphological anomaly','no definition available'),('294977','Congenital absence of thigh and lower leg with foot present','Morphological anomaly','Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.'),('294979','Congenital absence of both forearm and hand','Morphological anomaly','Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.'),('294981','Congenital absence of both lower leg and foot','Morphological anomaly','Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.'),('294983','Acheiria','Morphological anomaly','A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.'),('294986','Apodia','Morphological anomaly','A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.'),('294988','Congenital hypoplasia of thumb','Morphological anomaly','Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.'),('294990','OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb','Morphological anomaly','no definition available'),('294992','OBSOLETE: Split hand','Morphological anomaly','no definition available'),('294994','OBSOLETE: Split foot','Morphological anomaly','no definition available'),('294996','OBSOLETE: Brachydactyly of fingers','Morphological anomaly','no definition available'),('294998','OBSOLETE: Brachydactyly of toes','Morphological anomaly','no definition available'),('295','Fetal parvovirus syndrome','Malformation syndrome','Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; `slapped cheek disease`) and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.'),('2950','Triphalangeal thumb-polysyndactyly syndrome','Malformation syndrome','Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.'),('295000','Constriction rings syndrome','Malformation syndrome','Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.'),('295002','Hyperphalangy','Morphological anomaly','Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.'),('295004','Central polydactyly','Morphological anomaly','no definition available'),('295006','OBSOLETE: Preaxial polydactyly of toes','Morphological anomaly','no definition available'),('295008','OBSOLETE: Postaxial polydactyly of toes','Morphological anomaly','no definition available'),('295010','OBSOLETE: Central polydactyly of toes','Morphological anomaly','no definition available'),('295012','Syndactyly type 6','Morphological anomaly','Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.'),('295014','Familial isolated clinodactyly of fingers','Morphological anomaly','Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.'),('295016','Camptodactyly of fingers','Morphological anomaly','Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.'),('295018','Congenital pseudoarthrosis of the tibia','Clinical subtype','A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.'),('295020','Congenital pseudoarthrosis of the femur','Clinical subtype','A rare bone development disorder characterized by abnormal bowing and subsequent non-healing fracture of the femur resulting in the formation of a false joint (pseudoarthrosis), which is already present at birth. The affected bone is shortened and angulated at the site of the pseudoarthrosis. Congenital hip dysplasia and absence of the patella have been reported in association.'),('295022','Congenital pseudoarthrosis of the fibula','Clinical subtype','A rare bone development disorder characterized by abnormal bowing of the fibula with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. The defect is typically unilateral and often associated with pseudoarthrosis of the tibia and neurofibromatosis type 1.'),('295024','Congenital pseudoarthrosis of the radius','Clinical subtype','A rare bone development disorder characterized by abnormal bowing of the radius and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include radial deviation in the wrist joint and limited pronation and supination of the forearm. Neurofibromatosis type 1, osteofibrous dysplasia, and bowing and pseudoarthrosis of the ulna are frequently associated.'),('295026','Congenital pseudoarthrosis of the ulna','Clinical subtype','A rare bone development disorder characterized by abnormal bowing of the ulna and subsequent non-healing fracture with formation of a false joint (pseudoarthrosis), instability and angulation at the pseudoarthrosis site, and shortening of the forearm. Additional signs and symptoms include concomitant bowing of the radius, abnormalities of the humeroulnar joint, and limited pronation or supination of the forearm. Neurofibromatosis type 1 and osteofibrous dysplasia are frequently associated.'),('295028','Tibio-fibular synostosis','Morphological anomaly','Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.'),('295030','True congenital shoulder dislocation','Morphological anomaly','A rare congenital limb malformation characterized by true congenital dislocation of the shoulder, developing in utero. It can be unilateral or bilateral and is usually associated with other abnormalities of the shoulder girdle, such as in the glenoid, the humeral head, the joint capsule, and the scapula. In addition, it may be accompanied by other malformations, like developmental hip dysplasia or cardiac malformation.'),('295032','Isolated congenital radial head dislocation','Morphological anomaly','A rare congenital limb malformation characterized by mostly posterior, less frequently also anterior or lateral dislocation of the radial head from its position in the humeroradial joint. It is bilateral in the majority of cases and can occur as an isolated feature or in association with other congenital malformations and as part of a number of syndromes. The defect may at first cause only mild symptoms such as pain and limitation of flexion of the elbow, but may eventually lead to joint instability, dysplastic changes of the radial head, and arthritis.'),('295034','Congenital knee dislocation','Morphological anomaly','A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen`s syndrome, arthrogryposis multiplex congenita).'),('295036','Congenital patella dislocation','Morphological anomaly','A rare congenital limb malformation characterized by permanent and manually irreducible lateral dislocation of the kneecap. It typically presents with flexion contracture of the knee, genu valgus, absent or dysplastic trochlear groove of the femur, external rotation of the tibia, and dysfunction of the extensor mechanism. The defect may be unilateral or bilateral and can occur as an isolated malformation, be associated with other malformations of the lower limb, or be part of a polymalformative syndrome.'),('295038','OBSOLETE: Patella aplasia/hypoplasia, unilateral','Clinical subtype','no definition available'),('295041','OBSOLETE: Patella aplasia/hypoplasia, bilateral','Clinical subtype','no definition available'),('295044','Macrodactyly of fingers','Morphological anomaly','no definition available'),('295047','Macrodactyly of toes','Morphological anomaly','no definition available'),('295049','Upper limb hypertrophy','Morphological anomaly','no definition available'),('295051','Lower limb hypertrophy','Morphological anomaly','A rare, genetic, non-syndromic developmental defect during embryogenesis disorder characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.'),('295053','OBSOLETE: Amelia of upper limb, unilateral','Clinical subtype','no definition available'),('295055','OBSOLETE: Amelia of upper limb, bilateral','Clinical subtype','no definition available'),('295057','OBSOLETE: Amelia of lower limb, unilateral','Clinical subtype','no definition available'),('295059','OBSOLETE: Amelia of lower limb, bilateral','Clinical subtype','no definition available'),('295061','OBSOLETE: Humeral agenesis/hypoplasia, unilateral','Clinical subtype','no definition available'),('295063','OBSOLETE: Humeral agenesis/hypoplasia, bilateral','Clinical subtype','no definition available'),('295065','OBSOLETE: Femoral agenesis/hypoplasia, unilateral','Clinical subtype','no definition available'),('295067','OBSOLETE: Femoral agenesis/hypoplasia, bilateral','Clinical subtype','no definition available'),('295069','OBSOLETE: Radial hemimelia, unilateral','Clinical subtype','no definition available'),('295071','OBSOLETE: Radial hemimelia, bilateral','Clinical subtype','no definition available'),('295073','OBSOLETE: Ulnar hemimelia, bilateral','Clinical subtype','no definition available'),('295075','OBSOLETE: Ulnar hemimelia, unilateral','Clinical subtype','no definition available'),('295077','OBSOLETE: Tibial hemimelia, unilateral','Clinical subtype','no definition available'),('295079','OBSOLETE: Tibial hemimelia, bilateral','Clinical subtype','no definition available'),('295081','OBSOLETE: Fibular hemimelia, unilateral','Clinical subtype','no definition available'),('295083','OBSOLETE: Fibular hemimelia, bilateral','Clinical subtype','no definition available'),('295085','OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral','Clinical subtype','no definition available'),('295087','OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral','Clinical subtype','no definition available'),('295089','OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral','Clinical subtype','no definition available'),('295091','OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral','Clinical subtype','no definition available'),('295093','OBSOLETE: Congenital absence of both forearm and hand, unilateral','Clinical subtype','no definition available'),('295095','OBSOLETE: Congenital absence of both forearm and hand, bilateral','Clinical subtype','no definition available'),('295097','OBSOLETE: Congenital absence of both lower leg and foot, unilateral','Clinical subtype','no definition available'),('295099','OBSOLETE: Congenital absence of both lower leg and foot, bilateral','Clinical subtype','no definition available'),('2951','Absent thumb-short stature-immunodeficiency syndrome','Malformation syndrome','An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.'),('295101','OBSOLETE: Acheiria, unilateral','Clinical subtype','no definition available'),('295103','OBSOLETE: Acheiria, bilateral','Clinical subtype','no definition available'),('295105','OBSOLETE: Apodia, unilateral','Clinical subtype','no definition available'),('295107','OBSOLETE: Apodia, bilateral','Clinical subtype','no definition available'),('295110','OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral','Clinical subtype','no definition available'),('295112','OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral','Clinical subtype','no definition available'),('295114','OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral','Clinical subtype','no definition available'),('295116','OBSOLETE: Adactyly of foot, unilateral','Clinical subtype','no definition available'),('295118','OBSOLETE: Adactyly of foot, bilateral','Clinical subtype','no definition available'),('295120','OBSOLETE: Split hand, unilateral','Clinical subtype','no definition available'),('295122','OBSOLETE: Split hand, bilateral','Clinical subtype','no definition available'),('295124','OBSOLETE: Split foot, unilateral','Clinical subtype','no definition available'),('295126','OBSOLETE: Split foot, bilateral','Clinical subtype','no definition available'),('295128','OBSOLETE: Brachydactyly of fingers, unilateral','Clinical subtype','no definition available'),('295130','OBSOLETE: Brachydactyly of fingers, bilateral','Clinical subtype','no definition available'),('295132','OBSOLETE: Brachydactyly of toes, unilateral','Clinical subtype','no definition available'),('295134','OBSOLETE: Brachydactyly of toes, bilateral','Clinical subtype','no definition available'),('295136','OBSOLETE: Symbrachydactyly of hand and foot, unilateral','Clinical subtype','no definition available'),('295138','OBSOLETE: Symbrachydactyly of hand and foot, bilateral','Clinical subtype','no definition available'),('295140','OBSOLETE: Hyperphalangy, unilateral','Clinical subtype','no definition available'),('295142','OBSOLETE: Hyperphalangy, bilateral','Clinical subtype','no definition available'),('295144','OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral','Clinical subtype','no definition available'),('295146','OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral','Clinical subtype','no definition available'),('295148','OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral','Clinical subtype','no definition available'),('295150','OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral','Clinical subtype','no definition available'),('295152','OBSOLETE: Polydactyly of an index finger, unilateral','Clinical subtype','no definition available'),('295154','OBSOLETE: Polydactyly of an index finger, bilateral','Clinical subtype','no definition available'),('295159','OBSOLETE: Polysyndactyly, unilateral','Clinical subtype','no definition available'),('295161','OBSOLETE: Polysyndactyly, bilateral','Clinical subtype','no definition available'),('295163','OBSOLETE: Postaxial polydactyly type A, unilateral','Clinical subtype','no definition available'),('295165','OBSOLETE: Postaxial polydactyly type A, bilateral','Clinical subtype','no definition available'),('295167','OBSOLETE: Postaxial polydactyly type B, unilateral','Clinical subtype','no definition available'),('295169','OBSOLETE: Postaxial polydactyly type B, bilateral','Clinical subtype','no definition available'),('295171','OBSOLETE: Central polydactyly of fingers, unilateral','Clinical subtype','no definition available'),('295173','OBSOLETE: Central polydactyly of fingers, bilateral','Clinical subtype','no definition available'),('295175','OBSOLETE: Preaxial polydactyly of toes, unilateral','Clinical subtype','no definition available'),('295177','OBSOLETE: Preaxial polydactyly of toes, bilateral','Clinical subtype','no definition available'),('295179','OBSOLETE: Postaxial polydactyly of toes, unilateral','Clinical subtype','no definition available'),('295181','OBSOLETE: Postaxial polydactyly of toes, bilateral','Clinical subtype','no definition available'),('295183','OBSOLETE: Central polydactyly of toes, unilateral','Clinical subtype','no definition available'),('295185','OBSOLETE: Central polydactyly of toes, bilateral','Clinical subtype','no definition available'),('295187','Zygodactyly type 1','Clinical subtype','no definition available'),('295189','Zygodactyly type 2','Clinical subtype','no definition available'),('295191','Zygodactyly type 3','Clinical subtype','no definition available'),('295193','Zygodactyly type 4','Clinical subtype','no definition available'),('295195','Synpolydactyly type 1','Clinical subtype','no definition available'),('295197','Synpolydactyly type 2','Clinical subtype','no definition available'),('295199','Synpolydactyly type 3','Clinical subtype','no definition available'),('2952','Adducted thumbs-arthrogryposis syndrome, Christian type','Malformation syndrome','A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (`myopathic` stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.'),('295201','Congenital vertical talus, unilateral','Clinical subtype','no definition available'),('295203','Congenital vertical talus, bilateral','Clinical subtype','no definition available'),('295205','OBSOLETE: Humero-radio-ulnar synostosis, unilateral','Clinical subtype','no definition available'),('295207','OBSOLETE: Humero-radio-ulnar synostosis, bilateral','Clinical subtype','no definition available'),('295209','OBSOLETE: Humero-radial synostosis, unilateral','Clinical subtype','no definition available'),('295211','OBSOLETE: Humero-radial synostosis, bilateral','Clinical subtype','no definition available'),('295213','Humero-ulnar synostosis, unilateral','Clinical subtype','no definition available'),('295215','Humero-ulnar synostosis, bilateral','Clinical subtype','no definition available'),('295217','Radio-ulnar synostosis, unilateral','Clinical subtype','no definition available'),('295219','Radio-ulnar synostosis, bilateral','Clinical subtype','no definition available'),('295221','OBSOLETE: Madelung deformity, unilateral','Clinical subtype','no definition available'),('295223','OBSOLETE: Madelung deformity, bilateral','Clinical subtype','no definition available'),('295225','Congenital elbow dislocation, unilateral','Clinical subtype','no definition available'),('295227','Congenital elbow dislocation, bilateral','Clinical subtype','no definition available'),('295229','Congenital genu recurvatum','Clinical subtype','A rare congenital knee dislocation characterized by hyperextension of the knee greater than 0° associated with limited flexion, with prominence of the femoral condyles in the popliteal fossa and increased transverse skin folds over the anterior surface of the knee. It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot) or be part of a syndrome (e. g. Larsen`s syndrome).'),('295232','Congenital genu flexum','Clinical subtype','A rare congenital knee dislocation characterized by permanent knee flexion with limited extension. It can be unilateral or bilateral and may occur as an isolated malformation or be part of a syndrome (especially arthrogryposis multiplex congenita).'),('295234','OBSOLETE: Congenital patella dislocation, unilateral','Clinical subtype','no definition available'),('295237','OBSOLETE: Congenital patella dislocation, bilateral','Clinical subtype','no definition available'),('295239','Macrodactyly of fingers, unilateral','Clinical subtype','no definition available'),('295241','Macrodactyly of fingers, bilateral','Clinical subtype','no definition available'),('295243','Macrodactyly of toes, unilateral','Clinical subtype','no definition available'),('295245','Macrodactyly of toes, bilateral','Clinical subtype','no definition available'),('2953','Musculocontractural Ehlers-Danlos syndrome','Disease','A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.'),('2956','Acrodysplasia scoliosis','Malformation syndrome','A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.'),('2957','Guttmacher syndrome','Malformation syndrome','Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.'),('2958','X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome','Malformation syndrome','An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.'),('2959','Progeria-short stature-pigmented nevi syndrome','Malformation syndrome','Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.'),('296','Ollier disease','Disease','Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.'),('2962','De Barsy syndrome','Disease','De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.'),('2963','Progeroid syndrome, Petty type','Malformation syndrome','Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.'),('2964','Autosomal dominant prognathism','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.'),('2965','Prolactinoma','Disease','A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.'),('2966','Properdin deficiency','Disease','Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.'),('2967','Transcobalamin I deficiency','Disease','A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.'),('2968','Leukocyte adhesion deficiency','Disease','Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.'),('2969','Proteus-like syndrome','Disease','Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.'),('297','Tick-borne encephalitis','Disease','Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.'),('2970','Prune belly syndrome','Malformation syndrome','Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.'),('2971','Peroxisomal acyl-CoA oxidase deficiency','Disease','Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.'),('2972','Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome','Malformation syndrome','Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.'),('2973','46,XX disorder of sex development-anorectal anomalies syndrome','Malformation syndrome','46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.'),('2975','46,XX disorder of sex development-skeletal anomalies syndrome','Malformation syndrome','46,XX disorder of sex development-skeletal anomalies syndrome is characterised by primary amenorrhoea, ambiguous external genitalia, and bone abnormalities (hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads, etc.). It has been described in two sisters born to consanguineous parents.'),('2976','Pseudoleprechaunism syndrome, Patterson type','Malformation syndrome','Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.'),('2978','Chronic intestinal pseudoobstruction','Clinical syndrome','Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.'),('298','Mitochondrial neurogastrointestinal encephalomyopathy','Disease','Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.'),('2980','Acrootoocular syndrome','Malformation syndrome','A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.'),('2981','Pseudo-Zellweger syndrome','Disease','no definition available'),('2982','46,XX disorder of sex development','Category','no definition available'),('29822','Spontaneous periodic hypothermia','Disease','A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.'),('2983','Disorder of sex development-intellectual disability syndrome','Disease','Verloes-Gillerot-Fryns syndrome is a rare association of malformations.'),('2985','Pseudoprogeria syndrome','Malformation syndrome','A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.'),('298644','Disorder of thiamine metabolism and transport','Category','no definition available'),('2987','Antecubital pterygium syndrome','Malformation syndrome','A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.'),('2988','Pterygium colli-intellectual disability-digital anomalies syndrome','Malformation syndrome','A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.'),('2989','Familial pterygium of the conjunctiva','Morphological anomaly','A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.'),('2990','Autosomal recessive multiple pterygium syndrome','Malformation syndrome','no definition available'),('2994','Short stature-craniofacial anomalies-genital hypoplasia syndrome','Malformation syndrome','Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.'),('2995','Baraitser-Winter cerebrofrontofacial syndrome','Malformation syndrome','Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.'),('2997','Ptosis-vocal cord paralysis syndrome','Malformation syndrome','Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.'),('2998','Carnevale syndrome','Malformation syndrome','no definition available'),('2999','Ptosis-strabismus-ectopic pupils syndrome','Malformation syndrome','A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.'),('30','Hereditary orotic aciduria','Disease','A rare autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5`-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5`-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.'),('300','Bifunctional enzyme deficiency','Disease','no definition available'),('3000','Familial male-limited precocious puberty','Disease','Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.'),('300179','Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency','Clinical subtype','A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.'),('3002','Immune thrombocytopenia','Disease','Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.'),('300284','Connective tissue disorder due to lysyl hydroxylase-3 deficiency','Disease','Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.'),('300293','Transient infantile hypertriglyceridemia and hepatosteatosis','Disease','Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.'),('300298','Severe congenital hypochromic anemia with ringed sideroblasts','Disease','STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.'),('3003','Pyknoachondrogenesis','Malformation syndrome','A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.'),('300305','11p15.4 microduplication syndrome','Malformation syndrome','A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.'),('300313','Congenital cataract-hearing loss-severe developmental delay syndrome','Disease','Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.'),('300319','Charcot-Marie-Tooth disease type 2P','Disease','Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.'),('300324','Persistent polyclonal B-cell lymphocytosis','Disease','Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.'),('300333','Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome','Disease','Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.'),('300337','OBSOLETE: Congenital blindness due to retinal non-attachment','Disease','no definition available'),('300345','Autosomal systemic lupus erythematosus','Disease','Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.'),('300359','PLCG2-associated antibody deficiency and immune dysregulation','Disease','PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.'),('300373','X-linked acrogigantism','Disease','A rare genetic endocrine disease characterized by early-onset (from <12 months to 3 years), rapid and excessive acceleration of linear growth and body size due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present with gigantism and may have associated acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, increased appetite and acanthosis nigricans.'),('300382','Progeroid and marfanoid aspect-lipodystrophy syndrome','Disease','Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.'),('300385','Pituitary carcinoma','Disease','A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor.'),('3004','Mirror polydactyly-vertebral segmentation-limbs defects syndrome','Malformation syndrome','A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.'),('300493','Sagliker syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('300496','Multiple congenital anomalies-hypotonia-seizures syndrome type 2','Malformation syndrome','Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.'),('3005','Pyle disease','Disease','A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask`` appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.'),('300501','Painful orbital and systemic neurofibromas-marfanoid habitus syndrome','Disease','Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.'),('300504','Onychocytic matricoma','Disease','Onychocytic matricoma is a rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells.'),('300512','Onychomatricoma','Disease','Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported.'),('300515','Rare nail tumor','Category','no definition available'),('300525','Pseudohypoaldosteronism type 2D','Etiological subtype','no definition available'),('300530','Pseudohypoaldosteronism type 2E','Etiological subtype','no definition available'),('300536','DDOST-CDG','Disease','DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).'),('300547','Autosomal recessive infantile hypercalcemia','Disease','A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.'),('300552','Follicular cholangitis and pancreatitis','Disease','Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.'),('300557','Carcinoma of the ampulla of Vater','Disease','Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.'),('300564','Combined pulmonary fibrosis-emphysema syndrome','Disease','no definition available'),('300570','Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation','Disease','A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.'),('300573','Polymicrogyria due to TUBB2B mutation','Malformation syndrome','A rare, genetic, central nervous system malformation characterized by generalized or focal polmicrogryia-like cortical dysplasia and simplified gyral pattern, or alternatively by microlissencephaly and agenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).'),('300576','Oligodontia-cancer predisposition syndrome','Disease','Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.'),('300579','Staphylococcal toxemia','Category','no definition available'),('3006','Pyridoxine-dependent epilepsy','Disease','A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).'),('300605','Juvenile amyotrophic lateral sclerosis','Disease','Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.'),('300751','Familial dilated cardiomyopathy with conduction defect due to LMNA mutation','Disease','Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.'),('300755','Laminopathy with striated muscle involvement','Category','no definition available'),('300758','Laminopathy with peripheral neuropathy','Category','no definition available'),('300763','Laminopathy with lipodystrophy','Category','no definition available'),('300766','Laminopathy with premature aging','Category','no definition available'),('3008','Pyruvate carboxylase deficiency','Disease','Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.'),('300842','Indolent B-cell non-Hodgkin lymphoma','Category','no definition available'),('300846','Aggressive B-cell non-Hodgkin lymphoma','Category','no definition available'),('300849','Diffuse large B-cell lymphoma of the central nervous system','Disease','no definition available'),('300857','T-cell/histiocyte rich large B cell lymphoma','Disease','T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.'),('300865','Primary cutaneous anaplastic large cell lymphoma','Disease','Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.'),('300869','Splenic diffuse red pulp small B-cell lymphoma','Disease','Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.'),('300878','Hairy cell leukemia variant','Disease','A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia.'),('300888','Diffuse large B-cell lymphoma with chronic inflammation','Disease','Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.'),('300895','ALK-positive anaplastic large cell lymphoma','Histopathological subtype','A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).'),('300903','ALK-negative anaplastic large cell lymphoma','Histopathological subtype','A type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).'),('300912','Marginal zone lymphoma','Clinical group','no definition available'),('301','Ependymal tumor','Clinical group','Ependymal tumor is a tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (benign or low grade tumors) or anaplastic ependymoma (malignant or grade III tumors).'),('3010','Qazi-Markouizos syndrome','Disease','A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.'),('3011','Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome','Disease','A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.'),('3013','Radiculomegaly of canine teeth- congenital cataract','Malformation syndrome','no definition available'),('3015','Radio-renal syndrome','Malformation syndrome','Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.'),('3016','Absent radius-anogenital anomalies syndrome','Malformation syndrome','A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.'),('3018','Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome','Malformation syndrome','A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.'),('3019','Ramon syndrome','Malformation syndrome','A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.'),('302','Epidermodysplasia verruciformis','Disease','Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.'),('3020','Ramsay Hunt syndrome','Disease','A rare infectious disease characterized by herpes zoster oticus associated with peripheral facial nerve palsy, often also with other cranial nerve lesions. Patients present with a painful erythematous vesicular rash in and around one ear and facial paralysis on the same side. Other frequent manifestations include hearing loss, tinnitus, vertigo, nausea, vomiting, and nystagmus.'),('3021','RAPADILINO syndrome','Malformation syndrome','A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.'),('3022','Rapp-Hodgkin syndrome','Disease','no definition available'),('3023','External auditory canal atresia-vertical talus-hypertelorism syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.'),('3026','Radial ray hypoplasia-choanal atresia syndrome','Malformation syndrome','An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.'),('3027','Caudal regression sequence','Malformation syndrome','Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.'),('3029','NON RARE IN EUROPE: Horseshoe kidney','Morphological anomaly','no definition available'),('303','Dystrophic epidermolysis bullosa','Clinical group','Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms).'),('3032','NPHP3-related Meckel-like syndrome','Malformation syndrome','NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.'),('3033','Renal tubular dysgenesis','Malformation syndrome','Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.'),('3034','Delayed membranous cranial ossification','Malformation syndrome','Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.'),('3035','Growth delay-hydrocephaly-lung hypoplasia syndrome','Malformation syndrome','Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.'),('3038','Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome','Malformation syndrome','This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.'),('30391','Isolated biliary atresia','Morphological anomaly','Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.'),('304','Epidermolysis bullosa simplex','Clinical group','Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.'),('304055','Pituitary tumor','Category','no definition available'),('3041','Intellectual disability-balding-patella luxation-acromicria syndrome','Malformation syndrome','Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.'),('3042','Intellectual disability-cataracts-calcified pinnae-myopathy syndrome','Malformation syndrome','Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.'),('3043','OBSOLETE: Intellectual disability-unusual facies syndrome','Malformation syndrome','no definition available'),('3044','Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.'),('3046','OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type','Malformation syndrome','no definition available'),('3047','Blepharophimosis-intellectual disability syndrome, SBBYS type','Malformation syndrome','Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.'),('305','Junctional epidermolysis bullosa','Clinical group','Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.'),('3050','OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome','Disease','no definition available'),('3051','Intellectual disability-sparse hair-brachydactyly syndrome','Malformation syndrome','Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.'),('3052','X-linked intellectual disability-seizures-psoriasis syndrome','Disease','A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.'),('3055','X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome','Malformation syndrome','X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.'),('3056','X-linked intellectual disability, Brooks type','Disease','X-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.'),('3057','Monoamine oxidase A deficiency','Disease','Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.'),('3059','X-linked intellectual disability, Gu type','Disease','no definition available'),('306','Benign familial infantile epilepsy','Disease','Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.'),('3061','OBSOLETE: X-linked intellectual disability, Raynaud type','Disease','no definition available'),('3062','OBSOLETE: X-linked intellectual disability, Schutz type','Disease','no definition available'),('3063','X-linked intellectual disability, Snyder type','Disease','X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.'),('3064','OBSOLETE: X-linked intellectual disability, Wittner type','Disease','no definition available'),('306431','Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies','Disease','A rare acquired immunodeficiency disorder characterized by the appearance of susceptibility to disseminated opportunistic infections (in particular, disseminated nontuberculous mycobacterial infection, salmonellosis, penicillosis, and varicella zoster virus infection) in previously healthy (HIV-negative) adults, associated with the presence of acquired autoantibodies to interferon gamma. Typical clinical manifestation includes lymphadenopathy (cervical or generalized), fever, weight loss and/or reactive skin lesions.'),('306436','Congenital sucrase-isomaltase deficiency with starch intolerance','Clinical subtype','no definition available'),('306446','Congenital sucrase-isomaltase deficiency with minimal starch tolerance','Clinical subtype','no definition available'),('306462','Congenital sucrase-isomaltase deficiency without starch intolerance','Clinical subtype','no definition available'),('306474','Congenital sucrase-isomaltase deficiency with starch and lactose intolerance','Clinical subtype','no definition available'),('306486','Congenital sucrase-isomaltase deficiency without sucrose intolerance','Clinical subtype','no definition available'),('306498','PTEN hamartoma tumor syndrome','Clinical group','PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.'),('3065','X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome','Disease','no definition available'),('306504','Junctional epidermolysis bullosa with respiratory and renal involvement','Disease','Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.'),('306507','LAMB2-related infantile-onset nephrotic syndrome','Disease','no definition available'),('306511','Autosomal recessive spastic paraplegia type 48','Disease','Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.'),('306516','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis','Clinical group','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN) (see these terms).'),('306519','Genetic primary hypomagnesemia with hypocalciuria','Clinical group','no definition available'),('306522','Genetic primary hypomagnesemia with normocalciuria','Clinical group','Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms).'),('306527','Isolated hereditary congenital facial paralysis','Morphological anomaly','Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.'),('306530','Congenital hereditary facial paralysis-variable hearing loss syndrome','Morphological anomaly','Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.'),('306539','OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary','Disease','no definition available'),('306542','Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome','Malformation syndrome','Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.'),('306547','Porencephaly-microcephaly-bilateral congenital cataract syndrome','Malformation syndrome','Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.'),('306550','FADD-related immunodeficiency','Disease','FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.'),('306553','Myospherulosis','Disease','no definition available'),('306558','Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome','Disease','Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.'),('306561','OBSOLETE: Autosomal dominant childhood-onset cortical cataract','Clinical subtype','no definition available'),('306566','OBSOLETE: Susceptibility to myopathies due to statin treatment','Particular clinical situation in a disease or syndrome','no definition available'),('306574','OBSOLETE: Methotrexate dose selection','Particular clinical situation in a disease or syndrome','no definition available'),('306577','Sodium channelopathy-related small fiber neuropathy','Disease','Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.'),('306588','Autosomal dominant Opitz G/BBB syndrome','Etiological subtype','no definition available'),('306597','X-linked Opitz G/BBB syndrome','Etiological subtype','no definition available'),('306617','X-linked complicated spastic paraplegia type 1','Clinical subtype','no definition available'),('306633','Rare tumor of gallbladder and extrahepatic biliary tract','Category','no definition available'),('306636','Rare tumor of liver and intrahepatic biliary tract','Category','no definition available'),('306640','Rare intoxication due to medical products','Category','no definition available'),('306644','Complication after organ transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('306648','Non-infectious anterior uveitis','Category','no definition available'),('306658','Familial normophosphatemic tumoral calcinosis','Clinical subtype','no definition available'),('306661','Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome','Clinical subtype','Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.'),('306666','Rare parkinsonian syndrome due to neurodegenerative disease','Category','no definition available'),('306669','Hemiparkinsonism-hemiatrophy syndrome','Disease','Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.'),('306674','Kufor-Rakeb syndrome','Disease','Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.'),('306679','Rare parkinsonian syndrome due to intoxication','Category','no definition available'),('306682','Manganese poisoning','Disease','A rare disorder due to toxic effects characterized by a progressive, permanent affliction of the extrapyramidal system with the globus pallidus and striatum as primary targets of neurotoxic effects. Symptoms include headache, insomnia, memory loss, emotional instability, hyperreflexia, dystonia, tremor, speech disturbances, and gait abnormalities. Individual factors like age, gender, genetics, and pre-existing medical conditions appear to have a profound impact on manganese toxicity.'),('306686','Delayed encephalopathy due to carbon monoxide poisoning','Disease','A rare neurologic disease characterized by delayed onset of encephalopathy typically within a few weeks after acute carbon monoxide poisoning. The most common symptoms are cognitive impairment, personality changes, and movement disorder including parkinsonism, among others. Prognosis is good with a high rate of spontaneous recovery within a year.'),('306692','Cyanide-induced parkinsonism-dystonia','Disease','Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.'),('306695','Miscellaneous movement disorder due to neurodegenerative disease','Category','no definition available'),('3067','OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome','Malformation syndrome','no definition available'),('306708','Frontotemporal neurodegeneration with movement disorder','Category','no definition available'),('306712','Rare tremor disorder','Category','no definition available'),('306715','Rare choreic movement disorder','Category','no definition available'),('306719','Neurodegenerative disease with chorea','Category','no definition available'),('306727','Postinfectious autoimmune disease with chorea','Category','no definition available'),('306731','Sydenham chorea','Particular clinical situation in a disease or syndrome','no definition available'),('306734','Primary dystonia, DYT21 type','Disease','Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.'),('306741','Hemidystonia-hemiatrophy syndrome','Disease','Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.'),('306747','Rare myoclonus','Category','no definition available'),('306750','Primary myoclonus','Category','no definition available'),('306753','Rare disease with myoclonus as a major feature','Category','no definition available'),('306756','Epilepsy and/or ataxia with myoclonus as a major feature','Category','no definition available'),('306759','Non progressive epilepsy and/or ataxia with myoclonus as a major feature','Category','no definition available'),('306762','OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature','Category','no definition available'),('306765','Motor stereotypies','Category','no definition available'),('306768','Rare paroxysmal movement disorder','Category','no definition available'),('306773','Hyperekplexia','Clinical group','no definition available'),('306776','Sporadic hyperekplexia','Disease','A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.'),('3068','Intellectual disability-myopathy-short stature-endocrine defect syndrome','Disease','Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.'),('307','Juvenile myoclonic epilepsy','Disease','Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).'),('307052','Rare genetic parkinsonian disorder','Category','no definition available'),('307055','Rare parkinsonian syndrome due to genetic neurodegenerative disease','Category','no definition available'),('307058','Miscellaneous movement disorder due to genetic neurodegenerative disease','Category','no definition available'),('307061','Rare genetic tremor disorder','Category','no definition available'),('307064','Rare genetic myoclonus','Category','no definition available'),('307067','Rare genetic disease with myoclonus as a major feature','Category','no definition available'),('3071','Costello syndrome','Malformation syndrome','A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway.'),('307141','Diffuse palmoplantar keratoderma','Category','no definition available'),('307148','Isolated diffuse palmoplantar keratoderma','Clinical group','no definition available'),('3074','Intellectual disability-short stature-hypertelorism syndrome','Malformation syndrome','Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad `square` forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.'),('3077','X-linked intellectual disability-psychosis-macroorchidism syndrome','Malformation syndrome','An X-linked syndromic intellectual disability characterized by developmental delay, variable degree of intellectual disability, speech delay or absent speech, pyramidal signs, tremor, macroorchidism and variable mood and behavior problems, including psychosis and autistic-like behavior. Males are predominantly affected, some females show lower cognitive abilities.'),('307711','Disease with diffuse palmoplantar keratoderma as a major feature','Category','no definition available'),('307766','Curly hair-acral keratoderma-caries syndrome','Disease','Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.'),('307773','Autosomal dominant diffuse mutilating palmoplantar keratoderma','Clinical group','no definition available'),('3078','Severe X-linked intellectual disability, Gustavson type','Malformation syndrome','A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.'),('307804','Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature','Category','no definition available'),('307837','Focal palmoplantar keratoderma','Category','no definition available'),('307846','Isolated focal palmoplantar keratoderma','Clinical group','no definition available'),('307871','Disease with focal palmoplantar keratoderma as a major feature','Category','no definition available'),('3079','Intellectual disability, Buenos-Aires type','Malformation syndrome','Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.'),('307936','Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome','Disease','Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.'),('307967','Punctate palmoplantar keratoderma','Category','no definition available'),('307995','Marginal papular palmoplantar keratoderma','Clinical group','no definition available'),('308','Unverricht-Lundborg disease','Malformation syndrome','Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.'),('3080','Intellectual disability, Wolff type','Malformation syndrome','Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.'),('308013','Focal acral hyperkeratosis','Disease','no definition available'),('308023','Disease with punctate palmoplantar keratoderma as a major feature','Category','no definition available'),('308031','Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature','Category','no definition available'),('308041','Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature','Category','no definition available'),('308166','Erythrokeratoderma variabilis progressiva','Clinical group','Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.'),('3082','Intellectual disability-polydactyly-uncombable hair syndrome','Malformation syndrome','Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.'),('308380','Methylcobalamin deficiency type cblDv1','Clinical subtype','no definition available'),('308386','Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A','Etiological subtype','no definition available'),('308393','Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B','Etiological subtype','no definition available'),('3084','Mirhosseini-Holmes-Walton syndrome','Malformation syndrome','no definition available'),('308400','Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C','Etiological subtype','no definition available'),('308407','Disorder of beta and omega amino acid metabolism','Category','no definition available'),('308410','Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency','Disease','A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.'),('308425','Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency','Disease','Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.'),('308442','Vitamin B12-responsive methylmalonic acidemia, type cblDv2','Clinical subtype','no definition available'),('308448','Aminoacylase deficiency','Clinical group','no definition available'),('308451','Disorder of neutral amino acid transport','Category','no definition available'),('308459','Disorder of glycolysis','Category','no definition available'),('308463','Disorder of fructose metabolism','Category','no definition available'),('308467','Disorder of galactose metabolism','Category','no definition available'),('308473','Erythrocyte galactose epimerase deficiency','Clinical subtype','no definition available'),('308487','Generalized galactose epimerase deficiency','Clinical subtype','no definition available'),('3085','Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome','Malformation syndrome','Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.'),('308520','Glycogen storage disease due to glycogen synthase deficiency','Clinical group','no definition available'),('308552','Glycogen storage disease due to acid maltase deficiency, infantile onset','Clinical subtype','Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.'),('308573','OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset','Clinical subtype','no definition available'),('3086','Autosomal dominant vitreoretinochoroidopathy','Disease','A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.'),('308604','OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset','Clinical subtype','no definition available'),('308621','Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form','Clinical subtype','no definition available'),('308638','Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form','Clinical subtype','no definition available'),('308655','Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form','Clinical subtype','no definition available'),('308670','Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form','Clinical subtype','no definition available'),('308684','Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form','Clinical subtype','no definition available'),('308698','Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form','Clinical subtype','no definition available'),('3087','Retinohepatoendocrinologic syndrome','Malformation syndrome','no definition available'),('308712','Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form','Clinical subtype','no definition available'),('3088','Revesz syndrome','Malformation syndrome','Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.'),('308993','Glycerol kinase deficiency','Clinical group','no definition available'),('308998','Disorder of glyoxylate metabolism','Category','no definition available'),('309','Familial partial epilepsy','Clinical group','no definition available'),('3090','Congenital pulmonary venous return anomaly','Clinical group','A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC; see this term), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC, see this term), where all of the pulmonary veins are anomalous.'),('309001','Disorder of carbohydrate absorption and transport','Category','no definition available'),('309005','Disorder of lipid metabolism','Category','no definition available'),('309015','Familial lipoprotein lipase deficiency','Etiological subtype','no definition available'),('309020','Familial apolipoprotein C-II deficiency','Etiological subtype','no definition available'),('309025','Mevalonate kinase deficiency','Clinical group','no definition available'),('309028','Disorder of lipid absorption and transport','Category','no definition available'),('309031','Pancreatic triacylglycerol lipase deficiency','Disease','no definition available'),('3091','Congenital systemic veins anomaly','Category','no definition available'),('309108','Pancreatic colipase deficiency','Disease','no definition available'),('309111','Combined pancreatic lipase-colipase deficiency','Disease','Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.'),('309115','Disorder of fatty acid oxidation and ketogenesis','Category','no definition available'),('309120','Acyl-CoA dehydrogenase deficiency','Clinical group','no definition available'),('309127','3-hydroxyacyl-CoA dehydrogenase deficiency','Clinical group','no definition available'),('309130','Disorder of carnitine cycle and carnitine transport','Category','no definition available'),('309133','Metabolic disease due to other fatty acid oxidation disorder','Category','no definition available'),('309136','Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes','Category','no definition available'),('309139','OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA','Clinical group','no definition available'),('309144','Gangliosidosis','Category','no definition available'),('309147','Hyper-beta-alaninemia','Disease','A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopahty. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.'),('309152','GM2 gangliosidosis','Clinical group','no definition available'),('309155','Sandhoff disease, infantile form','Clinical subtype','no definition available'),('309162','Sandhoff disease, juvenile form','Clinical subtype','no definition available'),('309169','Sandhoff disease, adult form','Clinical subtype','no definition available'),('309178','Tay-Sachs disease, B variant, infantile form','Clinical subtype','no definition available'),('309185','Tay-Sachs disease, B variant, juvenile form','Clinical subtype','no definition available'),('309192','Tay-Sachs disease, B variant, adult form','Clinical subtype','no definition available'),('3092','Fixed subaortic stenosis','Morphological anomaly','Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.'),('309239','Tay-Sachs disease, B1 variant','Clinical subtype','no definition available'),('30924','Primary hypomagnesemia with secondary hypocalcemia','Disease','Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.'),('309246','GM2 gangliosidosis, AB variant','Disease','GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.'),('30925','Hereditary central diabetes insipidus','Clinical subtype','Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.'),('309252','Atypical Gaucher disease due to saposin C deficiency','Clinical subtype','no definition available'),('309256','Metachromatic leukodystrophy, late infantile form','Clinical subtype','A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life.'),('309263','Metachromatic leukodystrophy, juvenile form','Clinical subtype','A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life.'),('309271','Metachromatic leukodystrophy, adult form','Clinical subtype','A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset.'),('309279','Glycoproteinosis','Category','no definition available'),('309282','Alpha-mannosidosis, infantile form','Clinical subtype','no definition available'),('309288','Alpha-mannosidosis, adult form','Clinical subtype','no definition available'),('309294','Sialidosis','Clinical group','Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I (see this term), the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.'),('309297','Mucopolysaccharidosis type 4A','Clinical subtype','no definition available'),('3093','Congenital aortic valve stenosis','Morphological anomaly','A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.'),('309310','Mucopolysaccharidosis type 4B','Clinical subtype','no definition available'),('309319','Disorder of sialic acid metabolism','Category','no definition available'),('309324','Free sialic acid storage disease, infantile form','Clinical subtype','no definition available'),('309331','Intermediate severe Salla disease','Clinical subtype','no definition available'),('309334','Salla disease','Clinical subtype','no definition available'),('309337','Lysosomal glycogen storage disease','Category','no definition available'),('309340','Disorder of lysosomal-related organelles','Category','no definition available'),('309347','Disorder of protein N-glycosylation','Category','no definition available'),('309447','Disorder of protein O-glycosylation','Category','no definition available'),('309450','Disorder of O-xylosylglycan synthesis','Category','no definition available'),('309458','Disorder of O-N-acetylgalactosaminylglycan synthesis','Category','no definition available'),('309463','Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis','Category','no definition available'),('309469','Disorder of O-mannosylglycan synthesis','Category','no definition available'),('3095','Atypical Rett syndrome','Disease','A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.'),('309505','Disorder of fucoglycosan synthesis','Category','no definition available'),('309515','Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation','Category','no definition available'),('309526','Disorder of multiple glycosylation','Category','no definition available'),('309568','Defect in conserved oligomeric Golgi complex','Category','no definition available'),('3096','Reye syndrome','Disease','A rare, systemic disease characterized by persistent vomiting with confusion, lethargy, disorientation, hyperreflexia, hyperventilation, and tachycardia, with rapid progression to seizures, non-inflammatory encephalopathy, coma and death. It typically develops between 12 hours and 3 weeks after recovery from a viral illness, such as upper respiratory tract infection or gastroenteritis. Hepatomegaly, acute hepatic steatosis, fatty liver degeneration and multiple laboratory abnormalities are associated.'),('3097','Meacham syndrome','Malformation syndrome','Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.'),('309778','Defect in V-ATPase','Category','no definition available'),('309789','Rhizomelic chondrodysplasia punctata type 1','Etiological subtype','no definition available'),('309796','Rhizomelic chondrodysplasia punctata type 2','Etiological subtype','no definition available'),('3098','Rhizomelic syndrome, Urbach type','Malformation syndrome','Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.'),('309803','Rhizomelic chondrodysplasia punctata type 3','Etiological subtype','no definition available'),('309810','Disorder of peroxisomal alpha-, beta- and omega-oxidation','Category','no definition available'),('309813','Disorder of porphyrin and heme metabolism','Category','no definition available'),('309816','Disorder of bilirubin metabolism and excretion','Category','no definition available'),('309819','Disorder of pterin metabolism','Category','no definition available'),('309824','Disorder of metabolite absorption and transport','Category','no definition available'),('309827','Disorder of vitamin and non-protein cofactor absorption and transport','Category','no definition available'),('309830','Disorder of catecholamine synthesis','Category','no definition available'),('309833','Disorder of other vitamins and cofactors metabolism and transport','Category','no definition available'),('309836','Disorder of mineral absorption and transport','Category','no definition available'),('309839','Disorder of copper metabolism','Category','no definition available'),('309842','Disorder of iron metabolism and transport','Category','no definition available'),('309845','Disorder of zinc metabolism and transport','Category','no definition available'),('309848','Disorder of magnesium transport','Category','no definition available'),('309851','Disorder of manganese transport','Category','no definition available'),('309854','Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome','Disease','no definition available'),('3099','Rheumatic fever','Disease','Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.'),('31','Oxoglutaric aciduria','Disease','A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.'),('310','Reflex epilepsy','Clinical group','Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy, see these terms), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).'),('310050','Acquired immunodeficiency','Category','no definition available'),('3101','Richieri Costa-da Silva syndrome','Malformation syndrome','Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.'),('3102','Richieri Costa-Pereira syndrome','Malformation syndrome','Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.'),('3103','Roberts syndrome','Malformation syndrome','Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.'),('3104','Robin sequence-oligodactyly syndrome','Malformation syndrome','Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.'),('31043','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement','Disease','Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.'),('3105','Robinow-like syndrome','Malformation syndrome','no definition available'),('3106','Robinow-Sorauf syndrome','Malformation syndrome','no definition available'),('3107','Autosomal dominant Robinow syndrome','Clinical subtype','The more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.'),('3109','Mayer-Rokitansky-Küster-Hauser syndrome','Malformation syndrome','Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).'),('3110','Rombo syndrome','Disease','Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.'),('3111','Rotor syndrome','Disease','A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.'),('31112','Dermatofibrosarcoma protuberans','Disease','Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).'),('3112','Patella aplasia-coxa vara-tarsal synostosis syndrome','Disease','no definition available'),('31142','Oral erosive lichen','Disease','no definition available'),('3115','Roussy-Lévy syndrome','Disease','A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.'),('31150','Tangier disease','Disease','Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.'),('31153','Hypoalphalipoproteinemia','Clinical group','no definition available'),('31154','Hypobetalipoproteinemia','Clinical group','Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.'),('3118','Rudiger syndrome','Malformation syndrome','no definition available'),('312','Autosomal dominant epidermolytic ichthyosis','Disease','Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.'),('31202','Melioidosis','Disease','A rare infectious disease caused by the Gram-negative bacillus Burkholderia (pseudomonas) pseudomallei, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.'),('31204','Nocardiosis','Disease','Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.'),('31205','Rat-bite fever','Disease','Rat-bite fever (RBF) is a systemic bacterial zoonosis occurring in individuals that have been bitten or scratched by Streptobacillus moniliformis or Spirillum minus-infected rats and characterized by high fever, a rash on the extremities, and arthralgia.'),('3121','Ruvalcaba syndrome','Malformation syndrome','Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.'),('3122','OBSOLETE: Sinus node disease-myopia syndrome','Malformation syndrome','no definition available'),('3123','Brittle hair syndrome, Sabinas type','Malformation syndrome','no definition available'),('3124','Saccharopinuria','Disease','Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.'),('3128','OBSOLETE: Sakati-Nyhan syndrome','Malformation syndrome','no definition available'),('3129','Sarcosinemia','Disease','A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.'),('313','Lamellar ichthyosis','Disease','Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.'),('3130','Satoyoshi syndrome','Disease','Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.'),('3132','Say-Barber-Miller syndrome','Malformation syndrome','Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.'),('3133','Say-Field-Coldwell syndrome','Malformation syndrome','Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.'),('3134','SCARF syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and anbnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptsosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.'),('3135','Familial Scheuermann disease','Malformation syndrome','Familial Scheuermann disease is characterized by kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl`s nodes, disk-space narrowing, and vertebral wedging and is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.'),('3137','Alpha-N-acetylgalactosaminidase deficiency','Disease','A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.'),('313772','Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome','Disease','Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.'),('313781','20p13 microdeletion syndrome','Malformation syndrome','20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.'),('313795','Jawad syndrome','Malformation syndrome','Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.'),('3138','Ulnar-mammary syndrome','Malformation syndrome','Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.'),('313800','Optic nerve edema-splenomegaly syndrome','Disease','Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.'),('313808','Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia','Disease','Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.'),('313838','Coats plus syndrome','Disease','Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.'),('313846','Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome','Disease','Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome is a rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.'),('313850','Infantile cerebellar-retinal degeneration','Disease','Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.'),('313855','FGFR2-related bent bone dysplasia','Disease','FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.'),('313884','12p12.1 microdeletion syndrome','Malformation syndrome','12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.'),('313892','Developmental and speech delay due to SOX5 deficiency','Disease','Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).'),('313906','Congenital pancreatic cyst','Morphological anomaly','no definition available'),('313920','Epstein-Barr virus-associated gastric carcinoma','Disease','Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.'),('313936','PENS syndrome','Disease','PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ``gem-like`` appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.'),('313947','2q23.1 microduplication syndrome','Malformation syndrome','2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.'),('314','Erythroderma desquamativum','Disease','no definition available'),('3140','NON RARE IN EUROPE: Schizophrenia','Disease','no definition available'),('314002','Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome','Malformation syndrome','Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.'),('314017','Idiopathic linear interstitial keratitis','Disease','Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.'),('314022','Gastric adenocarcinoma and proximal polyposis of the stomach','Disease','Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.'),('314029','High bone mass osteogenesis imperfecta','Disease','High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with mutiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.'),('314034','7p22.1 microduplication syndrome','Malformation syndrome','7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.'),('314041','Marfanoid habitus-inguinal hernia-advanced bone age syndrome','Malformation syndrome','Marfanoid habitus-inguinal hernia-advanced bone age syndrome is a very rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).'),('314051','Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome','Disease','Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.'),('3143','Autoimmune polyendocrinopathy type 2','Disease','A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.'),('314373','Chronic infantile diarrhea due to guanylate cyclase 2C overactivity','Disease','A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn`s disease, are frequently associated.'),('314376','Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency','Disease','Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.'),('314381','Hereditary sensory and autonomic neuropathy type 6','Disease','no definition available'),('314389','Xq12-q13.3 duplication syndrome','Malformation syndrome','Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.'),('314394','Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome','Disease','Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.'),('314399','Autosomal dominant aplasia and myelodysplasia','Disease','A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.'),('3144','Schneckenbecken dysplasia','Malformation syndrome','Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.'),('314404','Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome','Disease','A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.'),('314419','Ameloblastoma','Disease','A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.'),('314422','Ameloblastic carcinoma','Disease','A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs.'),('314425','Rare odontogenic tumor','Category','no definition available'),('314432','Spigelian hernia-cryptorchidism syndrome','Malformation syndrome','Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.'),('314451','Meigs syndrome','Clinical syndrome','Meigs syndrome is a rare neoplastic disease characterized by the clinical triad of benign ovarian tumor (typically, ovarian fibroma or fibroma-like tumor), hydrothorax and ascites, which resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.'),('314459','Pseudo-Meigs syndrome','Clinical syndrome','Pseudo-Meigs syndrome is a rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection. Patients usually present with dyspnea, pelvic mass with or without a tender, distended abdomen and/or weight loss.'),('314466','Atypical Meigs syndrome','Clinical syndrome','A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.'),('314473','Ovarian fibroma','Disease','A rare benign ovarian tumor of sex cord / stromal origin characterized by an abdominal mass which may present with abdominal pain, distension, or menorrhagia, among others, or may also be asymptomatic. Association with ascites and hydrothorax is known as Meigs syndrome. The tumor can be solid and/or cystic in nature. Histologically it features bundles of spindle cells forming variable amounts of collagen, without cellular atypia or atypical mitoses.'),('314478','Ovarian fibrothecoma','Disease','Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).'),('314485','Young adult-onset distal hereditary motor neuropathy','Disease','Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.'),('3145','Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome','Disease','This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.'),('314555','Craniofacial dysplasia-osteopenia syndrome','Malformation syndrome','Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.'),('314566','Primary progressive apraxia of speech','Disease','Primary progressive apraxia of speech is a rare neurodegenerative disease characterized by impaired planning or programming of the movements for speech, leading to phonetically and prosodically abnormal speech, in absence, at onset, of any other neurological features (such as aphasia, memory loss, pyramidal signs). Patients usually present articulatory distortions/groping, slow rate, distorted sound substitutions and/or trial and error articulatory movements which begin insiduously and worsen over time.'),('314572','Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome','Disease','A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.'),('314575','Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome','Malformation syndrome','Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.'),('314585','15q overgrowth syndrome','Malformation syndrome','A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.'),('314588','Distal tetrasomy 15q','Etiological subtype','no definition available'),('314597','Chudley-McCullough syndrome','Malformation syndrome','Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.'),('314603','Autosomal recessive spastic ataxia with leukoencephalopathy','Disease','A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.'),('314613','Growing teratoma syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('314621','Duplication of the pituitary gland','Morphological anomaly','Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).'),('314629','CLN11 disease','Etiological subtype','no definition available'),('314632','ATP13A2-related juvenile neuronal ceroid lipofuscinosis','Disease','A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.'),('314637','Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency','Disease','A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.'),('314647','Non-progressive cerebellar ataxia with intellectual disability','Disease','Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).'),('314652','Variant ABeta2M amyloidosis','Disease','A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.'),('314655','Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion','Etiological subtype','no definition available'),('314662','Segmental progressive overgrowth syndrome with fibroadipose hyperplasia','Disease','A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.'),('314667','TMEM165-CDG','Disease','TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).'),('314679','Cerebrofacioarticular syndrome','Malformation syndrome','Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.'),('314684','Primary bone lymphoma','Disease','Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common.'),('314689','Combined immunodeficiency due to STK4 deficiency','Disease','A rare, genetic, combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).'),('314697','Acquired porencephaly','Etiological subtype','no definition available'),('314701','Primary systemic amyloidosis','Clinical subtype','Primary systemic amyloidosis (PSA) is a form of AL amyloidosis (see this term) caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by multiple organ involvement.'),('314709','Primary localized amyloidosis','Clinical subtype','Primary localized amyloidosis is a form of AL amyloidosis (see this term) caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor (see this term) and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.'),('314718','Lethal arteriopathy syndrome due to fibulin-4 deficiency','Disease','Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.'),('314721','Atypical dentin dysplasia due to SMOC2 deficiency','Clinical subtype','A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.'),('314749','Rare disease with Cushing syndrome as a major feature','Category','no definition available'),('314753','Functioning pituitary adenoma','Clinical group','no definition available'),('314759','Mixed functioning pituitary adenoma','Category','no definition available'),('314769','Somatomammotropinoma','Disease','Somatomammotropinoma is a rare, mixed, functioning pituitary adenoma characterized by the cosecretion of growth hormone and prolactin, which manifests with signs and symptoms of both acromegaly and hyperprolactinemia.'),('314777','Familial isolated pituitary adenoma','Disease','A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.'),('314786','Silent pituitary adenoma','Histopathological subtype','no definition available'),('314790','Null pituitary adenoma','Histopathological subtype','no definition available'),('314795','SHOX-related short stature','Disease','SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.'),('3148','Malignant peripheral nerve sheath tumor','Disease','Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.'),('314802','Short stature due to partial GHR deficiency','Disease','Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.'),('314811','Short stature due to GHSR deficiency','Disease','Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.'),('314822','Primary renal tubular acidosis','Clinical group','no definition available'),('314889','Autosomal dominant proximal renal tubular acidosis','Clinical subtype','A rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.'),('314911','Severe Canavan disease','Clinical subtype','Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.'),('314918','Mild Canavan disease','Clinical subtype','Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.'),('314928','NON RARE IN EUROPE: Normal pressure hydrocephalus','Disease','no definition available'),('314946','OBSOLETE: Mycobacterium xenopi infection','Disease','no definition available'),('314950','Primary hypereosinophilic syndrome','Disease','no definition available'),('314962','Secondary hypereosinophilic syndrome','Disease','no definition available'),('314970','Lymphocytic hypereosinophilic syndrome','Clinical subtype','no definition available'),('314978','X-linked non progressive cerebellar ataxia','Disease','X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.'),('314993','Cataract-congenital heart disease-neural tube defect syndrome','Malformation syndrome','Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.'),('315','Erythrokeratoderma ``en cocardes``','Disease','A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or `en cocardes`) plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.'),('3151','Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome','Disease','Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis (see this term) and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.'),('3152','Sclerosteosis','Malformation syndrome','Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.'),('3153','NON RARE IN EUROPE: Adolescent idiopathic scoliosis','Disease','no definition available'),('315306','Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form','Clinical subtype','The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.'),('315311','Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form','Clinical subtype','The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.'),('315350','Autoimmune disease with skin involvement','Category','no definition available'),('3156','Senior-Loken syndrome','Disease','A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.'),('3157','Septo-optic dysplasia spectrum','Malformation syndrome','Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.'),('316','Progressive symmetric erythrokeratodermia','Disease','no definition available'),('3160','OBSOLETE: Vascular disruption sequence','Malformation syndrome','no definition available'),('3161','Congenital pulmonary sequestration','Malformation syndrome','Congenital pulmonary sequestration is a rare respiratory malformation characterized by a cystic or solid mass of nonfunctioning primitive segmental lung tissue that does not communicate with the tracheobronchial tree and has anomalous systemic blood supply. Intralobar pulmonary sequestration may be asymptomatic or may present with recurrent pulmonary infections, hemoptysis, chest pain, cough and is usually diagnosed in older children and adults. Extralobar pulmonary sequestration present with respiratory distress, cyanosis, difficulty feeding or infection, may be associated with other anomalies and is mostly diagnosed in neonates or infants.'),('3162','Sézary syndrome','Disease','Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).'),('316226','Spastic ataxia','Clinical group','no definition available'),('316235','Autosomal dominant spastic ataxia','Category','no definition available'),('316240','Autosomal recessive spastic ataxia','Category','no definition available'),('316244','Partial deletion of the short arm of chromosome 12','Category','no definition available'),('3163','SHORT syndrome','Malformation syndrome','A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.'),('3164','Omphalocele syndrome, Shprintzen-Goldberg type','Malformation syndrome','Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.'),('3165','Eosinophilic fasciitis','Disease','Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.'),('3166','Sialuria','Disease','Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.'),('3167','Siegler-Brewer-Carey syndrome','Malformation syndrome','A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.'),('3168','Sillence syndrome','Malformation syndrome','Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.'),('3169','Sirenomelia','Malformation syndrome','Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.'),('317','Erythrokeratodermia variabilis','Disease','no definition available'),('31709','Infantile convulsions and choreoathetosis','Disease','Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.'),('3172','Eyebrow duplication-syndactyly syndrome','Malformation syndrome','Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.'),('3173','Infantile spasms-broad thumbs syndrome','Disease','Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.'),('31740','Hypersensitivity pneumonitis','Clinical group','Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.'),('317416','T-B+ severe combined immunodeficiency','Clinical group','T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.'),('317419','T-B- severe combined immunodeficiency','Clinical group','T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.'),('317425','Severe combined immunodeficiency due to DNA-PKcs deficiency','Disease','Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.'),('317428','Combined immunodeficiency due to ORAI1 deficiency','Clinical subtype','Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.'),('317430','Combined immunodeficiency due to STIM1 deficiency','Clinical subtype','Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.'),('317473','Pancytopenia due to IKZF1 mutations','Disease','A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.'),('317476','X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia','Disease','X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.'),('3175','X-linked spasticity-intellectual disability-epilepsy syndrome','Disease','This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).'),('3176','Spina bifida-hypospadias syndrome','Malformation syndrome','Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.'),('3177','Spinocerebellar degeneration-corneal dystrophy syndrome','Malformation syndrome','A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.'),('318','Acute erythroid leukemia','Disease','no definition available'),('3180','Spondylocamptodactyly syndrome','Malformation syndrome','Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.'),('3181','Sprengel deformity','Morphological anomaly','A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.'),('31824','Colchicine poisoning','Particular clinical situation in a disease or syndrome','Colchicine poisoning is a potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.'),('31825','Methanol poisoning','Disease','Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).'),('31826','Ethylene glycol poisoning','Disease','Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.'),('31827','Paraquat poisoning','Disease','Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.'),('31828','Digitalis poisoning','Particular clinical situation in a disease or syndrome','Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.'),('31837','Pulmonary venoocclusive disease','Disease','no definition available'),('3184','Steatocystoma multiplex-natal teeth syndrome','Malformation syndrome','The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.'),('3185','NON RARE IN EUROPE: Polycystic ovary syndrome','Disease','no definition available'),('3186','Holoprosencephaly-radial heart renal anomalies syndrome','Malformation syndrome','Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.'),('3188','Congenital pulmonary veins atresia or stenosis','Morphological anomaly','Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH) (see this term). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly (see this term) and septal defects.'),('3189','Congenital pulmonary valve stenosis','Morphological anomaly','Congenital pulmonary stenosis (PS) is a congenital heart malformation (see this term) that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS; see these terms).'),('319','Skeletal Ewing sarcoma','Disease','Ewing`s sarcoma is a malignant small round cell bone tumor with strong metastatic potential.'),('3190','Subpulmonary stenosis','Clinical subtype','no definition available'),('3191','Subaortic stenosis-short stature syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.'),('319160','Congenital myopathy with internal nuclei and atypical cores','Disease','Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.'),('319171','Distal 17p13.1 microdeletion syndrome','Malformation syndrome','Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.'),('319182','Wiedemann-Steiner syndrome','Malformation syndrome','Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.'),('319189','Familial cortical myoclonus','Disease','Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.'),('319192','Diencephalic-mesencephalic junction dysplasia','Morphological anomaly','Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the `butterfly sign` is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.'),('319195','Chondroectodermal dysplasia with night blindness','Disease','Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.'),('319199','Autosomal recessive spastic paraplegia type 53','Disease','Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.'),('3192','Supravalvular pulmonary stenosis','Clinical subtype','no definition available'),('319205','Bilateral massive adrenal hemorrhage','Etiological subtype','no definition available'),('319213','Lujo hemorrhagic fever','Disease','Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.'),('319218','Ebola hemorrhagic fever','Disease','Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.'),('319223','Argentine hemorrhagic fever','Disease','A disorder that caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.'),('319229','Bolivian hemorrhagic fever','Disease','Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.'),('319234','Venezuelan hemorrhagic fever','Disease','Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.'),('319239','Brazilian hemorrhagic fever','Disease','Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.'),('319244','Chapare hemorrhagic fever','Disease','Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.'),('319247','Hantavirus pulmonary syndrome','Disease','A rare viral hemorrhagic fever characterized by virus-induced microvascular leakage rapidly leading to a severe illness with diffuse pulmonary edema and respiratory failure. These symptoms set in after a short first disease stage with fever, myalgia, and headache, followed by severe gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. The high lethality of the disease is due to the possible development of hypotension and cardiogenic shock.'),('319251','Rift valley fever','Disease','Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.'),('319254','Kyasanur forest disease','Disease','Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.'),('319266','Omsk hemorrhagic fever','Disease','Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.'),('319276','Clear cell renal carcinoma','Disease','A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.'),('319287','Multilocular cystic renal neoplasm of low malignant potential','Histopathological subtype','Multilocular cystic renal neoplasm of low malignant potential is a rare subtype of clear cell renal cell carcinoma with distinct pathological features of cysts lined by occasionally flattened cuboidal clear cells and septa containing aggregates of epithelial cells with clear cytoplasm, and excellent prognosis. The tumor usually presents as an asymptomatic, unilateral, solitary lesion, macroscopically consisting of numerous, fluid-filled, septated cysts of variable size. Rarely, the symptoms typically associated with renal tumors (flank pain, hematuria, palpable mass) may be present.'),('319298','Papillary renal cell carcinoma','Disease','Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-Dubé syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.'),('3193','Supravalvular aortic stenosis','Morphological anomaly','SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.'),('319303','Chromophobe renal cell carcinoma','Disease','Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.'),('319308','MiT family translocation renal cell carcinoma','Disease','MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.'),('319314','OBSOLETE: Renal cell carcinoma associated with neuroblastoma','Disease','no definition available'),('319319','Renal medullary carcinoma','Disease','Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.'),('319322','Mucinous tubular and spindle cell renal carcinoma','Disease','Mucinous tubular and spindle cell renal carcinoma is a rare subtype of renal cell carcinoma characterized, histologically, by tubular architecture and sheets of spindle cells embedded in a mucinous/myxoid stroma and, macroscopically, by a solid, generally well-circumscribed, partially encapsulated tumor of variable size, with a homogenously colored, bulging cut surface, occassionally containing areas of hemorrhage or necrosis, usually located in the cortex. Patients can present abdominal/flank pain, adbominal mass and/or hematuria, however most are asymptomatic and tumor is discovered incidentally. Indolent behavior is frequent and association with nephrolithiasis and end-stage kidney disease has been noted.'),('319325','Tubulocystic renal cell carcinoma','Disease','Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy (\"bubble wrap-like\") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver metastases have been reported.'),('319328','Inherited renal cancer-predisposing syndrome','Category','no definition available'),('319332','Autosomal recessive myogenic arthrogryposis multiplex congenita','Disease','Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.'),('319340','Carney complex-trismus-pseudocamptodactyly syndrome','Disease','Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).'),('3194','Corneodermatoosseous syndrome','Malformation syndrome','A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.'),('319462','Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations','Disease','Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.'),('319465','Inherited acute myeloid leukemia','Disease','Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.'),('319480','Acute myeloid leukemia with CEBPA somatic mutations','Disease','A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).'),('319487','Familial papillary or follicular thyroid carcinoma','Disease','Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.'),('319494','Familial nonmedullary thyroid carcinoma','Clinical group','Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.'),('3195','Sternal malformation-vascular dysplasia syndrome','Malformation syndrome','no definition available'),('319504','Combined oxidative phosphorylation defect type 8','Disease','Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.'),('319509','Combined oxidative phosphorylation defect type 9','Disease','Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.'),('319514','Combined oxidative phosphorylation defect type 13','Disease','Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.'),('319519','Combined oxidative phosphorylation defect type 14','Disease','Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.'),('319524','Combined oxidative phosphorylation defect type 15','Disease','Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.'),('319535','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency','Category','A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.'),('319539','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency','Category','A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.'),('319543','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency','Category','A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).'),('319547','Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency','Disease','Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319552','Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.'),('319558','Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.'),('319563','Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.'),('319569','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency','Disease','A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319574','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency','Disease','Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319581','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency','Disease','A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319589','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency','Disease','A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('319595','Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.'),('3196','Steroid dehydrogenase deficiency-dental anomalies syndrome','Disease','Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.'),('319600','Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..'),('319605','X-linked mendelian susceptibility to mycobacterial diseases','Disease','X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.'),('319612','X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency','Etiological subtype','no definition available'),('319623','X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency','Etiological subtype','no definition available'),('319635','Amyloidosis cutis dyschromia','Disease','A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.'),('319640','Retinal macular dystrophy type 2','Disease','Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ``bull`s eye`` maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.'),('319646','PGM1-CDG','Disease','A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.'),('319651','Constitutional megaloblastic anemia with severe neurologic disease','Disease','no definition available'),('319658','NON RARE IN EUROPE: Unexplained intellectual disability','Disease','no definition available'),('319667','Primary lymphoma of the conjunctiva','Disease','Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ``fleshy`` patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.'),('319671','Microcephalic primordial dwarfism, Alazami type','Malformation syndrome','Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.'),('319675','Microcephalic primordial dwarfism, Dauber type','Malformation syndrome','Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.'),('319678','Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome','Disease','Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.'),('319681','NON RARE IN EUROPE: Lactase non-persistence in adulthood','Disease','no definition available'),('319684','NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency','Disease','no definition available'),('319691','NON RARE IN EUROPE: Partial color blindness, protan type','Disease','no definition available'),('319698','NON RARE IN EUROPE: Partial color blindness, deutan type','Disease','no definition available'),('3197','Hereditary hyperekplexia','Disease','Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.'),('319705','NON RARE IN EUROPE: Parkinson disease','Disease','no definition available'),('319719','Autoinflammatory syndrome of childhood','Category','no definition available'),('3198','Stiff person spectrum disorder','Disease','A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.'),('3199','Stimmler syndrome','Malformation syndrome','Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.'),('32','Glutathione synthetase deficiency','Disease','A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.'),('320','Apparent mineralocorticoid excess','Disease','A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.'),('3200','Arthrogryposis-ectodermal dysplasia syndrome','Malformation syndrome','A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.'),('3201','Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome','Malformation syndrome','This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term).'),('3202','Dehydrated hereditary stomatocytosis','Disease','Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.'),('3203','Overhydrated hereditary stomatocytosis','Disease','Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.'),('320317','OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome','Clinical group','no definition available'),('320332','X-linked pure spastic paraplegia','Clinical group','no definition available'),('320335','Pure or complex hereditary spastic paraplegia','Clinical group','no definition available'),('320342','Pure or complex autosomal dominant spastic paraplegia','Clinical group','no definition available'),('320346','Pure or complex autosomal recessive spastic paraplegia','Clinical group','no definition available'),('320350','Pure or complex X-linked spastic paraplegia','Clinical group','no definition available'),('320355','Autosomal dominant spastic paraplegia type 41','Disease','A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.'),('320360','MT-ATP6-related mitochondrial spastic paraplegia','Disease','MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.'),('320365','Autosomal dominant spastic paraplegia type 36','Disease','A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.'),('320370','Autosomal recessive spastic paraplegia type 43','Disease','Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.'),('320375','Autosomal recessive spastic paraplegia type 55','Disease','Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.'),('320380','Autosomal recessive spastic paraplegia type 54','Disease','Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.'),('320385','Hereditary sensory and autonomic neuropathy due to TECPR2 mutation','Disease','Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.'),('320391','Autosomal recessive spastic paraplegia type 46','Disease','Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.'),('320396','Autosomal recessive spastic paraplegia type 45','Disease','Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.'),('3204','Stormorken-Sjaastad-Langslet syndrome','Disease','Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.'),('320401','Autosomal recessive spastic paraplegia type 44','Disease','Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.'),('320406','Spastic paraplegia-optic atrophy-neuropathy syndrome','Disease','Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.'),('320411','Autosomal recessive spastic paraplegia type 56','Disease','A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.'),('3205','Sturge-Weber syndrome','Malformation syndrome','Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.'),('3206','Stüve-Wiedemann syndrome','Malformation syndrome','Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.'),('3207','White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.'),('3208','Isolated succinate-CoQ reductase deficiency','Disease','A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.'),('321','Multiple osteochondromas','Disease','Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.'),('3210','Summitt syndrome','Malformation syndrome','Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.'),('3212','Autosomal dominant optic atrophy and congenital deafness','Disease','no definition available'),('3213','Deafness-opticoacoustic nerve atrophy-dementia syndrome','Disease','no definition available'),('3214','Deaf blind hypopigmentation syndrome, Yemenite type','Malformation syndrome','Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.'),('3215','OBSOLETE: Deafness-white hair-contractures-papillomas syndrome','Disease','no definition available'),('3216','Conductive deafness-malformed external ear syndrome','Malformation syndrome','A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.'),('3217','Deafness-small bowel diverticulosis-neuropathy syndrome','Disease','A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.'),('3218','Deafness-epiphyseal dysplasia-short stature syndrome','Malformation syndrome','This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).'),('3219','Fountain syndrome','Malformation syndrome','Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.'),('322','Exstrophy-epispadias complex','Malformation syndrome','Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.'),('3220','Deafness-enamel hypoplasia-nail defects syndrome','Malformation syndrome','Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau`s lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.'),('3221','Generalized resistance to thyroid hormone','Disease','no definition available'),('322126','Genetic tumor of hematopoietic and lymphoid tissues','Category','no definition available'),('3222','Phosphoribosylpyrophosphate synthetase superactivity','Disease','A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.'),('3224','Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome','Malformation syndrome','Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).'),('3225','Hearing loss-familial salivary gland insensitivity to aldosterone syndrome','Malformation syndrome','Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.'),('3226','Deafness-lymphedema-leukemia syndrome','Malformation syndrome','Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.'),('3228','OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome','Disease','no definition available'),('3229','OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome','Malformation syndrome','no definition available'),('323','NON RARE IN EUROPE: FG syndrome phenotypic spectrum','Malformation syndrome','no definition available'),('3230','Deafness-oligodontia syndrome','Malformation syndrome','Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.'),('3231','Deafness-onychodystrophy syndrome','Clinical group','Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.'),('3232','Deafness-ear malformation-facial palsy syndrome','Malformation syndrome','Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.'),('3233','Cochleosaccular degeneration-cataract syndrome','Malformation syndrome','Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.'),('3235','Progressive deafness with stapes fixation','Malformation syndrome','Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget`s disease and osteogenesis imperfecta (Lobstein disease).'),('3236','Conductive deafness-ptosis-skeletal anomalies syndrome','Malformation syndrome','Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.'),('3237','Multiple synostoses syndrome','Malformation syndrome','Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.'),('3238','Cardiospondylocarpofacial syndrome','Malformation syndrome','Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.'),('3239','Deafness-vitiligo-achalasia syndrome','Malformation syndrome','Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.'),('324','Fabry disease','Disease','Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.'),('3240','Central nervous system calcification-deafness-tubular acidosis-anemia syndrome','Disease','A rare, genetic, syndromic, neurological disorder characterized by early infantile-onset of the progressive brain and spinal cord calcification, growth retardation, psychomotor deterioration, deafness, microcytic hypochromic anemia, and variable distal renal tubular acidosis. There have been no further descriptions in the literature since 1997.'),('3241','Deafness-craniofacial syndrome','Malformation syndrome','Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.'),('3242','Renpenning syndrome','Malformation syndrome','Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.'),('324262','Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency','Clinical subtype','A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.'),('324290','Early-onset Lafora body disease','Disease','A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies.'),('324294','T-cell immunodeficiency with epidermodysplasia verruciformis','Disease','A rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.'),('324299','Multiple paragangliomas associated with polycythemia','Disease','A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism.'),('3243','Sweet syndrome','Disease','Sweet`s syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.'),('324307','Severe lateral tibial bowing with short stature','Disease','Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.'),('324313','9p13 microdeletion syndrome','Malformation syndrome','9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).'),('324321','Sinoatrial node dysfunction and deafness','Disease','Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.'),('324353','Congenital achiasma','Morphological anomaly','Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.'),('324364','Mixed sclerosing bone dystrophy with extra-skeletal manifestations','Disease','A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.'),('324381','Hereditary inclusion body myopathy type 4','Disease','Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.'),('324410','X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome','Disease','X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.'),('324416','Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome','Malformation syndrome','Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.'),('324422','ALG13-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).'),('324442','Autosomal recessive axonal neuropathy with neuromyotonia','Disease','A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.'),('324525','Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation','Disease','A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.'),('324530','Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation','Disease','A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.'),('324535','Combined oxidative phosphorylation defect type 11','Disease','A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss, and renal disease. Additional, variably observed, clinical features include intellectual disability, seizures, and cardiomyopathy.'),('324540','Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.'),('324561','Hypopigmentation-punctate palmoplantar keratoderma syndrome','Disease','A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated.'),('324569','Pontocerebellar hypoplasia type 8','Malformation syndrome','Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.'),('324575','Hyperinsulinism due to HNF1A deficiency','Disease','Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.'),('324581','Benign Samaritan congenital myopathy','Disease','Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.'),('324585','Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain','Disease','A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.'),('324588','Familial dyskinesia and facial myokymia','Disease','Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.'),('3246','Symphalangism with multiple anomalies of hands and feet','Malformation syndrome','Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.'),('324601','X-linked cleft palate and ankyloglossia','Malformation syndrome','X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.'),('324604','Classic multiminicore myopathy','Clinical subtype','no definition available'),('324611','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation','Disease','A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.'),('324625','Chikungunya','Disease','A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression.'),('324632','Hendra virus infection','Disease','Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.'),('324636','Autoerythrocyte sensitization syndrome','Disease','no definition available'),('324648','Invasive non-typhoidal salmonellosis','Disease','Invasive non-typhoidal salmonellosis is a rare, bacterial, infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed.'),('324703','ABetaL34V amyloidosis','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.'),('324708','ABeta amyloidosis, Iowa type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.'),('324713','ABeta amyloidosis, Italian type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.'),('324718','ABetaA21G amyloidosis','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer`s disease-like dementia and lobar intracerebral hemorrhage in some patients.'),('324723','ABeta amyloidosis, Arctic type','Clinical subtype','Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer`s disease-like dementia, without intracerebral hemorrhages.'),('324737','SRD5A3-CDG','Disease','SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.'),('324761','Microcephalic primordial dwarfism','Clinical group','no definition available'),('324764','Trichorhinophalangeal syndrome','Clinical group','no definition available'),('324767','Non-familial rare disease with dilated cardiomyopathy','Category','no definition available'),('3248','Distal symphalangism','Morphological anomaly','Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.'),('324924','Hereditary periodic fever syndrome','Category','no definition available'),('324927','Pyogenic autoinflammatory syndrome','Category','no definition available'),('324930','Granulomatous autoinflammatory syndrome','Category','no definition available'),('324933','Mixed autoinflammatory and autoimmune syndrome','Category','Mixed autoinflammatory and autoimmune syndrome is a group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincially with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.'),('324936','Unclassified autoinflammatory syndrome','Category','no definition available'),('324939','Periodic fever syndrome of childhood','Category','no definition available'),('324942','Pyogenic autoinflammatory syndrome of childhood','Category','no definition available'),('324950','Granulomatous autoinflammatory syndrome of childhood','Category','no definition available'),('324953','Unclassified autoinflammatory syndrome of childhood','Category','no definition available'),('324960','Unexplained periodic fever syndrome of childhood','Category','no definition available'),('324964','Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis','Disease','Chronic nonbacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.'),('324972','MAGIC syndrome','Disease','no definition available'),('324977','Proteasome-associated autoinflammatory syndrome','Disease','Proteasome disability syndrome describes a group of autosomal recessively inherited autoinflammatory disorders characterized by lipodystrophy and skin eruptions. The disorders belonging to this group include Nakajo-Nishimura syndrome (NNS), JMP syndrome and CANDLE syndrome and all are caused by mutations in the PSMB8 gene (6p21.3).'),('324982','OBSOLETE: Adult-onset SAPHO syndrome','Clinical subtype','no definition available'),('324989','OBSOLETE: Juvenile-onset SAPHO syndrome','Clinical subtype','no definition available'),('324999','JMP syndrome','Clinical subtype','no definition available'),('325','Congenital factor II deficiency','Disease','An inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.'),('3250','Proximal symphalangism','Malformation syndrome','Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.'),('325004','CANDLE syndrome','Clinical subtype','no definition available'),('325055','46,XX disorder of gonadal development','Category','no definition available'),('325061','46,XX disorder of sex development induced by fetoplacental androgens excess','Category','no definition available'),('325093','46,XX disorder of sex development induced by endogenous maternal-derived androgen','Clinical group','no definition available'),('325099','46,XX disorder of sex development induced by exogenous maternal-derived androgen','Clinical group','no definition available'),('325109','Syndrome with 46,XX disorder of sex development','Category','no definition available'),('325118','46,XY disorder of gonadal development','Category','no definition available'),('325124','Testicular agenesis','Morphological anomaly','no definition available'),('3253','Cleft lip/palate-ectodermal dysplasia syndrome','Malformation syndrome','Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.'),('325345','46,XY ovotesticular disorder of sex development','Disease','46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.'),('325351','46,XY disorder of sex development of endocrine origin','Category','no definition available'),('325357','46,XY disorder of sex development due to impaired androgen production','Category','no definition available'),('325448','Leydig cell hypoplasia due to LHB deficiency','Clinical subtype','no definition available'),('3255','Filippi syndrome','Malformation syndrome','Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.'),('325511','46,XY disorder of sex development due to a cholesterol synthesis defect','Category','no definition available'),('325524','Classic congenital lipoid adrenal hyperplasia due to STAR deficency','Clinical subtype','no definition available'),('325529','Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency','Clinical subtype','no definition available'),('325537','46,XY disorder of sex development induced by maternal exposure to endocrine disruptors','Category','no definition available'),('325546','Sex chromosome disorder of sex development','Category','no definition available'),('325620','Disorder of sex development of gynecological interest','Category','no definition available'),('325632','46,XY disorder of sex development of gynecological interest','Category','no definition available'),('325638','Syndrome with disorder of sex development of gynecological interest','Category','no definition available'),('325665','Genetic disorder of sex development of gynecological interest','Category','no definition available'),('325690','Genetic disorder of sex development','Category','no definition available'),('325697','Genetic 46,XX disorder of sex development','Category','no definition available'),('325706','Genetic 46,XY disorder of sex development','Category','no definition available'),('325713','Genetic 46,XY disorder of sex development of endocrine origin','Category','no definition available'),('3258','Cenani-Lenz syndrome','Malformation syndrome','Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.'),('3259','Syndactyly-polydactyly-ear lobe syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.'),('326','Congenital factor V deficiency','Disease','Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.'),('3260','Idiopathic hypereosinophilic syndrome','Disease','no definition available'),('3261','Autoimmune lymphoproliferative syndrome','Disease','A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin`s and non-Hodgkin`s lymphoma.'),('3262','Dobrow syndrome','Malformation syndrome','Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.'),('3263','Syngnathia-cleft palate syndrome','Malformation syndrome','no definition available'),('3265','Humero-radial synostosis','Morphological anomaly','Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.'),('3266','Humero-radio-ulnar synostosis','Morphological anomaly','Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.'),('3267','Familial lambdoid synostosis','Morphological anomaly','Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.'),('3268','Radioulnar synostosis-microcephaly-scoliosis syndrome','Malformation syndrome','Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.'),('3269','Congenital radioulnar synostosis','Morphological anomaly','Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.'),('327','Congenital factor VII deficiency','Disease','A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity.'),('3270','Radioulnar synostosis-developmental delay-hypotonia syndrome','Malformation syndrome','Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).'),('3271','Radio-ulnar synostosis-retinal pigment abnormalities syndrome','Malformation syndrome','no definition available'),('3273','Synovial sarcoma','Disease','Synovial sarcoma is an aggressive soft tissue sarcoma (see this term), occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).'),('3274','Granulomatous arthritis of childhood','Disease','no definition available'),('3275','Spondylocarpotarsal synostosis','Malformation syndrome','A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.'),('3276','Disorder of plasmalogens biosynthesis','Category','no definition available'),('328','Congenital factor X deficiency','Disease','Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.'),('3280','Syringomyelia','Clinical group','Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).'),('3282','Multifocal atrial tachycardia','Disease','Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.'),('328269','OBSOLETE: Rare bone disease with limb reduction defect','Clinical group','no definition available'),('3283','His bundle tachycardia','Disease','His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.'),('3284','OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome','Disease','no definition available'),('3286','Catecholaminergic polymorphic ventricular tachycardia','Disease','Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.'),('3287','Takayasu arteritis','Disease','A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.'),('3289','NON RARE IN EUROPE: Taurodontism','Morphological anomaly','no definition available'),('329','Congenital factor XI deficiency','Disease','Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.'),('3291','Teebi-Shaltout syndrome','Malformation syndrome','Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.'),('329173','Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis','Disease','A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.'),('329178','Congenital muscular dystrophy with intellectual disability and severe epilepsy','Disease','Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.'),('329191','Tall stature-scoliosis-macrodactyly of the great toes syndrome','Disease','Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.'),('329195','Developmental delay with autism spectrum disorder and gait instability','Disease','Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.'),('3292','Tel Hashomer camptodactyly syndrome','Malformation syndrome','Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.'),('329206','OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome','Disease','no definition available'),('329211','Autosomal dominant neovascular inflammatory vitreoretinopathy','Disease','A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.'),('329217','Cerebral sinovenous thrombosis','Disease','A rare, potentially life-threatening, circulatory system disease characterized by variable signs and symptoms which may include headache, seizures, altered mental status, intracranial hypertension and cavernous sinus syndrome, among others.'),('329224','Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome','Malformation syndrome','Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.'),('329228','Microcephalic primordial dwarfism due to ZNF335 deficiency','Malformation syndrome','Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.'),('329235','X-linked central congenital hypothyroidism with late-onset testicular enlargement','Disease','X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.'),('329242','Congenital chronic diarrhea with protein-losing enteropathy','Disease','Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.'),('329249','Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency','Etiological subtype','A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.'),('329252','Spondylocostal dysostosis-hypospadias-intellectual disability syndrome','Disease','Spondylocostal dysostosis-hypospadias-intellectual disability syndrome is a rare, genetic, bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers.'),('329255','Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency','Disease','no definition available'),('329258','Autosomal dominant Charcot-Marie-Tooth disease type 2Q','Disease','A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.'),('329284','Beta-propeller protein-associated neurodegeneration','Disease','Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.'),('3293','Telecanthus-hypertelorism-strabismus-pes cavus syndrome','Malformation syndrome','Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.'),('329303','PLA2G6-associated neurodegeneration','Clinical group','no definition available'),('329308','Fatty acid hydroxylase-associated neurodegeneration','Disease','Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.'),('329314','Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency','Disease','An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.'),('329319','Thrombocythemia with distal limb defects','Disease','Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.'),('329324','Inverse Klippel-Trénaunay syndrome','Disease','no definition available'),('329329','Autosomal recessive frontotemporal pachygyria','Malformation syndrome','A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.'),('329332','Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome','Malformation syndrome','Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.'),('329336','Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy','Disease','A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.'),('329341','Limbic encephalitis with DPP6 antibodies','Disease','Limbic encephalitis with DPP6 antibodies is a rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthia, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation.'),('3294','Extensor tendons of finger anomalies','Malformation syndrome','Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.'),('329457','Distal arthrogryposis type 5D','Disease','Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.'),('329466','Autosomal dominant focal dystonia, DYT25 type','Disease','A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.'),('329469','Acute megakaryoblastic leukemia without Down syndrome','Clinical subtype','no definition available'),('329475','Spastic paraplegia-Paget disease of bone syndrome','Disease','Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.'),('329478','Adult-onset distal myopathy due to VCP mutation','Disease','A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.'),('329481','Lipoprotein glomerulopathy','Disease','no definition available'),('32960','Tumor necrosis factor receptor 1 associated periodic syndrome','Disease','Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).'),('329802','5p13 microduplication syndrome','Malformation syndrome','A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).'),('329813','Mosaic genome-wide paternal uniparental disomy','Malformation syndrome','A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.'),('329874','Idiopathic giant cell myocarditis','Disease','A rare cardiomyopathy characterized by progressive myocarditis with diffuse infiltration of cardiac tissue by lymphocytes, macrophages, multinuclear giant cells, and myocardial necrosis. Clinical presentation includes rapidly progressive heart failure, ventricular arrhythmias, complete heart block, and sudden cardiac death. Some patients have associated autoimmune disorders.'),('329883','Non-hypoproteinemic hypertrophic gastropathy','Disease','Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.'),('329888','Juvenile idiopathic inflammatory myopathy','Category','no definition available'),('329894','Juvenile overlap myositis','Disease','Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.'),('3299','Tetanus','Disease','A toxin-mediated infection due to the anaerobic bacteria Clostridium tetani and characterized by spasms and contractions of the skeletal muscles, the disease is often lethal.'),('329903','Immunoglobulin-mediated membranoproliferative glomerulonephritis','Clinical subtype','no definition available'),('329918','C3 glomerulopathy','Clinical subtype','no definition available'),('329931','C3 glomerulonephritis','Histopathological subtype','no definition available'),('329942','Transient neonatal multiple acyl-CoA dehydrogenase deficiency','Disease','Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency (see this term) such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.'),('329967','Intermittent hydrarthrosis','Disease','no definition available'),('329971','Generalized juvenile polyposis/juvenile polyposis coli','Clinical subtype','no definition available'),('329977','Classic neuroendocrine tumor of appendix','Clinical subtype','Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix (see this term), seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.'),('329984','Goblet cell carcinoma','Clinical subtype','Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.'),('329998','OBSOLETE: Lymphomatous meningitis','Particular clinical situation in a disease or syndrome','no definition available'),('33','Isovaleric acidemia','Disease','An autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ``sweaty feet`` odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.'),('330','Congenital factor XII deficiency','Disease','A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.'),('330001','Wild type ATTR amyloidosis','Disease','A rare systemic amyloidosis characterized by combination of various symptoms, depending on the organ involved. Common clinical features are cardiac failure, cardiac conduction anomalies or arrhythmia, renal dysfunction, carpal tunnel syndrome and spinal canal stenosis. Histology reveals fibrillary amyloid deposition of wild type transthyretin mostly in the kidneys, heart, gastrointestinal tract, skin and tenosynovial tissue.'),('330006','NON RARE IN EUROPE: Macular telangiectasia type 2','Disease','no definition available'),('330009','OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk','Particular clinical situation in a disease or syndrome','no definition available'),('33001','Lymphedema-distichiasis syndrome','Malformation syndrome','Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.'),('330012','High altitude pulmonary edema','Particular clinical situation in a disease or syndrome','no definition available'),('330015','Lead poisoning','Disease','Lead poisoning is defined as acute or chronic exposure to lead resulting in lead accumulation (blood lead concentration (BLC) >5 ug/dL) that can affect every organ system in the body and to which children are more susceptible. Clinical manifestations depend on the amount and duration of exposure and include abdominal pain, colic, constipation, lead line on gingival tissue, arthralgia, myalgia, peripheral neuropathy, fatigue, irritability, anemia, chronic nephropathy and hypertension. In children, even low levels of exposure (BLC <5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.'),('330021','Mercury poisoning','Disease','Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.'),('330029','Hypotrichosis-deafness syndrome','Disease','A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.'),('330032','Hemoglobin Lepore-beta-thalassemia syndrome','Disease','no definition available'),('330041','Hemoglobin M disease','Disease','A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.'),('330050','DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect','Etiological subtype','no definition available'),('330054','Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome','Disease','Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.'),('330058','Hydroa vacciniforme','Disease','no definition available'),('330061','Actinic prurigo','Disease','A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic.'),('330064','Chronic actinic dermatitis','Disease','Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.'),('3301','Tetraamelia-multiple malformations syndrome','Malformation syndrome','Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.'),('330197','Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome','Category','no definition available'),('330206','Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability','Category','no definition available'),('3303','Tetralogy of Fallot','Malformation syndrome','Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.'),('3304','Fallot complex-intellectual disability-growth delay syndrome','Malformation syndrome','Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.'),('3305','Tetraploidy','Malformation syndrome','Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.'),('3306','Inverted duplicated chromosome 15 syndrome','Malformation syndrome','A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.'),('33067','Metaphyseal chondrodysplasia, Jansen type','Disease','Jansen`s metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.'),('33069','Dravet syndrome','Disease','Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.'),('3307','Tetrasomy 18p','Malformation syndrome','Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.'),('3309','Tetrasomy 5p','Malformation syndrome','Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).'),('331','Congenital factor XIII deficiency','Disease','Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.'),('3310','Tetrasomy 9p','Malformation syndrome','Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).'),('33108','Lethal multiple pterygium syndrome','Malformation syndrome','A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.'),('3311','OBSOLETE: Infantile symmetrical thalamic degeneration','Disease','no definition available'),('33110','Autosomal agammaglobulinemia','Clinical subtype','A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.'),('33111','Granulomatous slack skin','Disease','Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.'),('331176','Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency','Disease','Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.'),('331184','Constitutional neutropenia with extra-hematopoietic manifestations','Category','no definition available'),('331187','Immunodeficiency due to MASP-2 deficiency','Disease','Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.'),('331190','Immunodeficiency due to ficolin3 deficiency','Disease','Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.'),('331193','Other immunodeficiency syndromes due to defects in innate immunity','Category','no definition available'),('3312','Thalidomide embryopathy','Malformation syndrome','Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.'),('331206','Severe combined immunodeficiency due to complete RAG1/2 deficiency','Disease','Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.'),('331217','Syndrome with combined immunodeficiency','Category','no definition available'),('331220','Immunodeficiency due to absence of thymus','Category','no definition available'),('331223','Hyper-IgE syndrome','Clinical group','no definition available'),('331226','Susceptibility to infection due to TYK2 deficiency','Disease','Susceptibility to infection due to TYK2 deficiency is a rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.'),('331232','Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells','Category','no definition available'),('331235','Selective IgM deficiency','Disease','no definition available'),('331240','Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells','Category','no definition available'),('331244','Other immunodeficiency syndrome with predominantly antibody defects','Category','no definition available'),('331249','Immunodeficiency syndrome with hypopigmentation','Category','no definition available'),('3313','OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome','Disease','no definition available'),('3314','Thiemann disease, familial form','Disease','Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.'),('3315','NON RARE IN EUROPE: Thiopurine S-methyltransferase deficiency','Disease','no definition available'),('3316','Thomas syndrome','Malformation syndrome','Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.'),('3317','Thoracolaryngopelvic dysplasia','Malformation syndrome','Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.'),('3318','Essential thrombocythemia','Disease','Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.'),('3319','Congenital amegakaryocytic thrombocytopenia','Disease','An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.'),('332','Congenital intrinsic factor deficiency','Disease','Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.'),('3320','Thrombocytopenia-absent radius syndrome','Malformation syndrome','Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.'),('33208','Idiopathic hypersomnia','Disease','Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.'),('3322','Hoyeraal-Hreidarsson syndrome','Disease','An X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.'),('33226','Waldenström macroglobulinemia','Disease','Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.'),('3323','Braddock-Carey syndrome','Malformation syndrome','no definition available'),('3324','Familial thrombomodulin anomalies','Disease','Familial thrombomodulin anomalies is a rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.'),('3325','Heparin-induced thrombocytopenia','Disease','A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.'),('3326','Thymic-renal-anal-lung dysplasia','Malformation syndrome','This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.'),('3327','Thyrocerebrorenal syndrome','Malformation syndrome','A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.'),('33271','NON RARE IN EUROPE: Non-alcoholic fatty liver disease','Clinical syndrome','no definition available'),('33276','Kaposi sarcoma','Disease','A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.'),('3328','Absent tibia-polydactyly-arachnoid cyst syndrome','Malformation syndrome','Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.'),('3329','Tibial aplasia-ectrodactyly syndrome','Malformation syndrome','Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.'),('333','Farber disease','Disease','A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.'),('3331','OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome','Malformation syndrome','no definition available'),('33314','Jessner lymphocytic infiltration of the skin','Disease','Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.'),('3332','Hypoplastic tibiae-postaxial polydactyly syndrome','Malformation syndrome','Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.'),('3333','Connective tissue dysplasia, Spellacy type','Disease','no definition available'),('33355','Reticular dysgenesis','Disease','Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.'),('3336','Tomé-Brunet-Fardeau syndrome','Malformation syndrome','no definition available'),('33364','Trichothiodystrophy','Disease','Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).'),('3337','Primary Fanconi renotubular syndrome','Disease','A rare generalized, genetic disorder of proximal tubular transport characterized by excessive urine output with loss of low molecular weight solutes (amino acids, glucose, low-molecular weight proteins, organic acids, carnitine, calcium, phosphate, potassium, bicarbonate) and water, and which can be life threatening.'),('3338','Toriello-Carey syndrome','Malformation syndrome','Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.'),('3339','Toriello-Lacassie-Droste syndrome','Malformation syndrome','Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.'),('334','Familial atrial fibrillation','Disease','Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.'),('3340','OBSOLETE: Torres-Aybar syndrome','Malformation syndrome','no definition available'),('33402','Pediatric hepatocellular carcinoma','Disease','A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).'),('33408','Bullous lichen planus','Disease','Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions.'),('33409','NON RARE IN EUROPE: Lichen sclerosus','Disease','no definition available'),('3341','Torticollis-keloids-cryptorchidism-renal dysplasia syndrome','Malformation syndrome','Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.'),('3342','Arterial tortuosity syndrome','Malformation syndrome','A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.'),('3343','Toxocariasis','Disease','A cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as visceral larva migrans caused by larval migration through major organs such as liver, lungs or central nervous system (manifesting with fever, cough, hepatomegaly, pneumonia or rarely encephalitis), or as ocular larva migrans caused by larval migration to the eye (manifesting as ocular inflammation and retinal scaring).'),('3344','Weismann-Netter syndrome','Malformation syndrome','Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.'),('33445','Neuroectodermal melanolysosomal disease','Malformation syndrome','Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.'),('3346','Tracheal agenesis','Morphological anomaly','Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.'),('3347','Mounier-Kühn syndrome','Clinical syndrome','A rare congenital respiratory disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.'),('33475','Meningococcal meningitis','Disease','Meningococcal meningitis is an acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.'),('3348','Tracheobronchopathia osteochondroplastica','Disease','Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.'),('3349','Treft-Sanborn-Carey syndrome','Disease','no definition available'),('335','Congenital fibrinogen deficiency','Disease','Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).'),('3350','Tremor-nystagmus-duodenal ulcer syndrome','Disease','Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.'),('3351','Trichodental syndrome','Malformation syndrome','Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.'),('3352','Tricho-dento-osseous syndrome','Malformation syndrome','Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.'),('3353','Trichodermodysplasia-dental alterations syndrome','Malformation syndrome','Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.'),('3354','OBSOLETE: Tricho-oculo-dermo-vertebral syndrome','Malformation syndrome','no definition available'),('33543','Kleine-Levin syndrome','Disease','Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.'),('3355','Trichoodontoonychial dysplasia','Malformation syndrome','Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.'),('3357','OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly','Malformation syndrome','no definition available'),('33572','5-oxoprolinase deficiency','Disease','A very heterogeneous condition characterized by 5-oxoprolinuria.'),('33573','Gamma-glutamyl transpeptidase deficiency','Disease','A disorder that is characterized by increased glutathione concentration in the plasma and urine.'),('33574','Glutamate-cysteine ligase deficiency','Disease','A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.'),('33577','Nodular non-suppurative panniculitis','Disease','A rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.'),('336','NON RARE IN EUROPE: Fibromuscular dysplasia of arteries','Disease','no definition available'),('3360','OBSOLETE: Trichodermal syndrome-intellectual disability syndrome','Malformation syndrome','no definition available'),('3361','Trichodysplasia-xeroderma syndrome','Malformation syndrome','Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.'),('3362','OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome','Malformation syndrome','no definition available'),('3363','Trichomegaly-retina pigmentary degeneration-dwarfism syndrome','Malformation syndrome','Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.'),('3365','Trigonocephaly-broad thumbs syndrome','Malformation syndrome','Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.'),('3366','Isolated trigonocephaly','Morphological anomaly','Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.'),('3368','Trigonocephaly-bifid nose-acral anomalies syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.'),('3369','Trigonocephaly-short stature-developmental delay syndrome','Malformation syndrome','Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.'),('337','Fibrodysplasia ossificans progressiva','Disease','Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.'),('3374','Triopia','Morphological anomaly','no definition available'),('3375','Trisomy X','Malformation syndrome','Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).'),('3376','Triploidy','Malformation syndrome','Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.'),('3377','Trismus-pseudocamptodactyly syndrome','Malformation syndrome','A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.'),('3378','Trisomy 13','Malformation syndrome','Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.'),('3379','Distal trisomy 17q','Malformation syndrome','Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.'),('338','Familial multiple fibrofolliculoma','Disease','no definition available'),('3380','Trisomy 18','Malformation syndrome','Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.'),('3383','Humerus trochlea aplasia','Malformation syndrome','Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.'),('3384','Truncus arteriosus','Morphological anomaly','Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.'),('3385','African trypanosomiasis','Disease','Human African Trypanosomiasis (HAT), also called sleeping sickness, is a vector-borne parasitic disease caused by a protozoa of the Trypanosoma genus transmitted by the bite of a tsetse fly (genus Glossina), that is found under its chronic form (average duration of 3 years) in western and central Africa (in case of the T. brucei gambiense sub-species), and under its acute form (lasting from few weeks to 6 months) in eastern and southern Africa (in case of the T. brucei rhodesiense sub-species). HAT comprises an initial hemo-lymphatic stage characterized by fever, weakness, musculoskeletal pain, anemia, and lymphadenopathy, along with dermatologic, cardiac and endocrine complications or hepatosplenomegaly, followed by a meningo-encephalitic stage characterized by neurologic involvement (sleep disturbances, psychiatric disorders, seizures) that progresses, in the absence of treatment, towards a fatal meningoencephalitis.'),('3386','American trypanosomiasis','Disease','A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.'),('3387','Isolated anterior cervical hypertrichosis','Disease','A rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.'),('3388','Neural tube defect','Category','no definition available'),('3389','Tuberculosis','Disease','Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.'),('3390','Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome','Disease','no definition available'),('3391','Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome','Malformation syndrome','no definition available'),('3392','Tularemia','Disease','A rare bacterial infectious disease caused by Francisella tularensis and characterized by six major clinical presentations: ulceroglandular, glandular, oropharyngeal, oculoglandular, pneumonic, or typhoidal, depending on the route of infection. Early flu-like symptoms are common to all forms and are accompanied/followed by either a skin inoculation ulcer with localized lymphadenopathy; isolated lymphadenopathy; chronic pharyngitis with cervical lymphadenopathy; conjunctivitis with localized lymphadenopathy; lung involvement; severe systemic disease with neurological symptoms.'),('3394','Soft tissue sarcoma','Clinical group','no definition available'),('3398','Thymic epithelial neoplasm','Category','Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms).'),('3399','Germ cell tumor','Category','no definition available'),('34','Pipecolic acidemia','Disease','no definition available'),('340','Hemorrhagic fever-renal syndrome','Disease','Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.'),('3400','Aorto-ventricular tunnel','Morphological anomaly','A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.'),('3402','Transient tyrosinemia of the newborn','Disease','Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.'),('3403','Uhl anomaly','Morphological anomaly','Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.'),('3404','Ulbright-Hodes syndrome','Malformation syndrome','Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.'),('3405','Umbilical cord ulceration-intestinal atresia syndrome','Malformation syndrome','A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia.'),('3406','Ulerythema ophryogenesis','Disease','Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.'),('3408','Upington disease','Malformation syndrome','Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.'),('3409','Urban-Rogers-Meyer syndrome','Malformation syndrome','This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.'),('341','Viral hemorrhagic fever','Category','Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg`s disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).'),('3411','Double uterus-hemivagina-renal agenesis syndrome','Malformation syndrome','Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis (see this term) and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.'),('3412','VACTERL with hydrocephalus','Malformation syndrome','VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.'),('34145','NON RARE IN EUROPE: Berger disease','Disease','no definition available'),('34149','Autosomal dominant tubulointerstitial kidney disease','Disease','A chronic tubulointerstitial nephropathy, which belongs, together with nephronophthisis (NPH), to a heterogeneous group of inherited tubulo-interstitial nephritis, termed NPH-MCKD complex.'),('3416','Hyperostosis corticalis generalisata','Malformation syndrome','Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.'),('3417','Van den Bosch syndrome','Malformation syndrome','Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.'),('3419','OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome','Disease','no definition available'),('342','Familial Mediterranean fever','Disease','Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.'),('3421','Cerebroretinal vasculopathy','Disease','no definition available'),('34217','Naxos disease','Disease','A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.'),('3423','Vasquez-Hurst-Sotos syndrome','Malformation syndrome','no definition available'),('3424','Velo-facial-skeletal syndrome','Malformation syndrome','A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.'),('3426','Double outlet right ventricle','Morphological anomaly','A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.'),('3427','Double outlet left ventricle','Morphological anomaly','Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.'),('3429','Verloove Vanhorick-Brubakk syndrome','Malformation syndrome','Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.'),('343','Hyperimmunoglobulinemia D with periodic fever','Disease','A rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).'),('3433','Microcephaly-brachydactyly-kyphoscoliosis syndrome','Malformation syndrome','Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.'),('3434','MMEP syndrome','Malformation syndrome','The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.'),('3435','NON RARE IN EUROPE: Vitiligo','Disease','no definition available'),('3437','Vogt-Koyanagi-Harada disease','Disease','Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.'),('3438','Biliary tract malformation-renal failure syndrome','Disease','no definition available'),('3439','Von Voss-Cherstvoy syndrome','Malformation syndrome','Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.'),('344','Arbovirus fever','Category','A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.'),('3440','Waardenburg syndrome','Disease','Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.'),('34412','NON RARE IN EUROPE: HAIR-AN syndrome','Disease','no definition available'),('3444','Watson syndrome','Malformation syndrome','no definition available'),('3446','Weaver-like syndrome','Malformation syndrome','no definition available'),('3447','Weaver syndrome','Malformation syndrome','Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.'),('3448','Weaver-Williams syndrome','Malformation syndrome','Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.'),('3449','Weill-Marchesani syndrome','Malformation syndrome','Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.'),('345','Dissecting cellulitis of the scalp','Disease','Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.'),('3450','Weissenbacher-Zweymuller syndrome','Malformation syndrome','no definition available'),('3451','West syndrome','Clinical syndrome','A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.'),('34514','Telethonin-related limb-girdle muscular dystrophy R7','Disease','A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.'),('34515','FKRP-related limb-girdle muscular dystrophy R9','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.'),('34516','DNAJB6-related limb-girdle muscular dystrophy D1','Disease','A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.'),('34517','Autosomal dominant limb-girdle muscular dystrophy type 1E','Disease','no definition available'),('3452','Whipple disease','Disease','A rare chronic infectious disorder in which almost all organ systems can be invaded by the rod-shaped bacterium Tropheryma whipplei (TW).'),('34520','Congenital muscular dystrophy with integrin alpha-7 deficiency','Disease','Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.'),('34521','Distal myopathy with early respiratory muscle involvement','Disease','no definition available'),('34526','Genetic primary hypomagnesemia','Category','A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood.'),('34527','Familial primary hypomagnesemia with normocalciuria and normocalcemia','Disease','A form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.'),('34528','Autosomal dominant primary hypomagnesemia with hypocalciuria','Disease','A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.'),('3453','Autoimmune polyendocrinopathy type 1','Disease','A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.'),('34533','Corneal dystrophy','Category','The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.'),('3454','Intellectual disability-developmental delay-contractures syndrome','Malformation syndrome','Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.'),('3455','Wiedemann-Rautenstrauch syndrome','Malformation syndrome','Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.'),('3456','Wildervanck syndrome','Malformation syndrome','Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness.'),('34587','Glycogen storage disease due to LAMP-2 deficiency','Disease','Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.'),('3459','Wilson-Turner syndrome','Malformation syndrome','Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.'),('34592','Immunodeficiency by defective expression of MHC class I','Disease','Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.'),('346','Quinquaud folliculitis decalvans','Disease','A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.'),('3460','Torg-Winchester syndrome','Clinical subtype','no definition available'),('3463','Wolfram syndrome','Disease','A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.'),('3464','Woodhouse-Sakati syndrome','Disease','Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.'),('3465','Worster-Drought syndrome','Malformation syndrome','Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.'),('3466','WT limb-blood syndrome','Disease','A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.'),('3467','Hereditary xanthinuria','Disease','A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.'),('3469','XK aprosencephaly syndrome','Malformation syndrome','XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.'),('347','Frasier syndrome','Disease','A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma.'),('3471','Young syndrome','Disease','Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.'),('3472','Yunis-Varon syndrome','Malformation syndrome','A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.'),('3473','Zimmermann-Laband syndrome','Malformation syndrome','Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.'),('3474','CHIME syndrome','Malformation syndrome','CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.'),('348','Fructose-1,6-bisphosphatase deficiency','Disease','Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.'),('349','Fucosidosis','Disease','Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.'),('35','Propionic acidemia','Disease','Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.'),('35056','NON RARE IN EUROPE: Trimethylaminuria','Disease','no definition available'),('35061','OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes','Disease','no definition available'),('35062','Idiopathic disseminated cytomegalovirus infection','Disease','no definition available'),('35063','Fulminant viral hepatitis','Disease','Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.'),('35064','OBSOLETE: Lethal idiopathic viral infection','Disease','no definition available'),('35065','OBSOLETE: Idiopathic severe pneumococcemia','Disease','no definition available'),('35066','NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis','Disease','no definition available'),('35069','Infantile neuroaxonal dystrophy','Disease','Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.'),('35078','T-B+ severe combined immunodeficiency due to JAK3 deficiency','Disease','Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.'),('35093','Isolated scaphocephaly','Morphological anomaly','Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.'),('35098','Isolated plagiocephaly','Morphological anomaly','Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.'),('35099','Isolated brachycephaly','Morphological anomaly','Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.'),('351','Galactosialidosis','Disease','Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ``cherry red spot``, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.'),('35107','Desmosterolosis','Disease','Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.'),('35120','Hemolytic anemia due to pyrimidine 5` nucleotidase deficiency','Disease','Hemolytic anemia due to pyrimidine 5` nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.'),('35121','Lysosomal acid phosphatase deficiency','Disease','no definition available'),('35122','Congenital sucrase-isomaltase deficiency','Disease','Congenital sucrase-isomaltase deficiency (CSID) is a carbohydrate intolerance disorder characterised by malabsorption of oligosaccharides and disaccharides.'),('35123','OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency','Disease','no definition available'),('35125','Epidermal nevus syndrome','Disease','Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.'),('35173','X-linked dominant chondrodysplasia punctata','Disease','A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.'),('352','Galactosemia','Category','Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).'),('352298','OBSOLETE: Genetic muscular channelopathy','Category','no definition available'),('352301','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis','Category','no definition available'),('352306','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement','Category','no definition available'),('352309','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement','Category','no definition available'),('352312','Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement','Category','no definition available'),('352328','MEGDEL syndrome','Disease','MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.'),('352333','Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome','Disease','no definition available'),('352403','Spectrin-associated autosomal recessive cerebellar ataxia','Disease','Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).'),('352447','Progressive external ophthalmoplegia-myopathy-emaciation syndrome','Disease','Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.'),('352456','Mitochondrial DNA maintenance syndrome','Category','no definition available'),('352470','DNA2-related mitochondrial DNA deletion syndrome','Disease','A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.'),('352479','ISPD-related limb-girdle muscular dystrophy R20','Disease','A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers` sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.'),('352482','OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement','Disease','no definition available'),('352487','Digital anomalies-intellectual disability-short stature syndrome','Disease','no definition available'),('352490','Autism spectrum disorder due to AUTS2 deficiency','Disease','A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.'),('352497','OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency','Disease','no definition available'),('352504','OBSOLETE: Levodopa-unresponsive juvenile parkinsonism','Disease','no definition available'),('352530','Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome','Disease','Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.'),('352540','Oncogenic osteomalacia','Disease','A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children.'),('352563','Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency','Disease','A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.'),('352577','Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome','Disease','Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome is rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip.'),('352582','Familial infantile myoclonic epilepsy','Disease','A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.'),('352587','Focal epilepsy-intellectual disability-cerebro-cerebellar malformation','Disease','Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.'),('352596','Progressive myoclonic epilepsy with dystonia','Disease','Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.'),('352613','Male infertility due to NANOS1 mutation','Disease','no definition available'),('352629','16q24.1 microdeletion syndrome','Disease','A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).'),('352636','Phalangeal microgeodic syndrome','Disease','A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.'),('352641','Autosomal recessive cerebellar ataxia with late-onset spasticity','Disease','A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.'),('352649','Brain dopamine-serotonin vesicular transport disease','Disease','A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.'),('352654','Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome','Disease','A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.'),('352657','Hereditary benign intraepithelial dyskeratosis','Disease','A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis.'),('352662','Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome','Disease','Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome is a rare, genetic, corneal dystrophy disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.'),('352665','Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion','Etiological subtype','no definition available'),('352670','Autosomal dominant intermediate Charcot-Marie-Tooth disease type F','Disease','A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.'),('352675','X-linked Charcot-Marie-Tooth disease type 6','Disease','X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).'),('352682','Cobblestone lissencephaly without muscular or ocular involvement','Disease','A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.'),('352687','Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies','Clinical group','Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.'),('352694','OBSOLETE: Cobblestone lissencephaly type A','Clinical group','no definition available'),('352699','OBSOLETE: Cobblestone lissencephaly type C','Clinical group','no definition available'),('352704','OBSOLETE: Cobblestone lissencephaly type B','Disease','no definition available'),('352709','CLN13 disease','Etiological subtype','no definition available'),('352712','Facial dysmorphism-immunodeficiency-livedo-short stature syndrome','Disease','Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.'),('352718','Progressive retinal dystrophy due to retinol transport defect','Disease','Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.'),('352723','Attenuated Chédiak-Higashi syndrome','Disease','A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.'),('352728','Disorder of melanin metabolism','Category','no definition available'),('352731','Oculocutaneous albinism type 1','Disease','A group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).'),('352734','Minimal pigment oculocutaneous albinism type 1','Clinical subtype','An extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.'),('352737','Temperature-sensitive oculocutaneous albinism type 1','Clinical subtype','An extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).'),('352740','Ocular albinism with congenital sensorineural deafness','Disease','Ocular albinism with congenital sensorineural deafness is a rare, genetic, oculocutaneous disorder characterized by profound, congenital, sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and café-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus, and an iris transillumination defect.'),('352745','Oculocutaneous albinism type 7','Disease','Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.'),('352763','Scleredema','Disease','no definition available'),('353','Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.'),('353217','Epileptic encephalopathy with global cerebral demyelination','Disease','Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.'),('353220','Familial primary localized cutaneous amyloidosis','Disease','no definition available'),('353225','NON RARE IN EUROPE: Primary adult open-angle glaucoma','Disease','no definition available'),('353253','Burning mouth syndrome','Disease','A rare neurologic disease characterized by an unremitting bilateral symmetrical burning sensation of the oral mucosa without clinical evidence of causative lesions. It most frequently occurs in postmenopausal women and typically affects the tongue, less often the palate, lips, or buccal mucosa. It is often associated with dysgeusia and xerostomia.'),('353277','Rubinstein-Taybi syndrome due to CREBBP mutations','Clinical subtype','no definition available'),('353281','Rubinstein-Taybi syndrome due to 16p13.3 microdeletion','Clinical subtype','no definition available'),('353284','Rubinstein-Taybi syndrome due to EP300 haploinsufficiency','Clinical subtype','no definition available'),('353298','Roifman syndrome','Disease','Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.'),('353308','Pyruvate carboxylase deficiency, infantile type','Clinical subtype','Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.'),('353314','Pyruvate carboxylase deficiency, severe neonatal type','Clinical subtype','Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.'),('353320','Pyruvate carboxylase deficiency, benign type','Clinical subtype','Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.'),('353327','Congenital myasthenic syndromes with glycosylation defect','Etiological subtype','no definition available'),('353334','Congenital retinal arteriovenous communication','Morphological anomaly','no definition available'),('353344','Idiopathic macular telangiectasia type 1','Disease','Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.'),('353351','Idiopathic macular telangiectasia type 3','Disease','Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.'),('353356','Vasoproliferative tumor of the retina','Disease','Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.'),('354','GM1 gangliosidosis','Disease','GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.'),('355','Gaucher disease','Disease','Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).'),('356','Gerstmann-Straussler-Scheinker syndrome','Disease','Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.'),('35612','Nanophthalmos','Malformation syndrome','A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.'),('35656','Coenzyme Q10 deficiency','Clinical group','no definition available'),('35664','ALDH18A1-related De Barsy syndrome','Etiological subtype','A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.'),('35686','Serpiginous choroiditis','Disease','no definition available'),('35687','Erdheim-Chester disease','Disease','Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.'),('35688','OBSOLETE: Madelung deformity','Morphological anomaly','no definition available'),('35689','Primary lateral sclerosis','Disease','Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.'),('356947','3q26q27 microdeletion syndrome','Malformation syndrome','3q26q27 microdeletion syndrome is a rare partial autosomal monosomy syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.'),('35696','Mitochondrial disorder due to a defect in mitochondrial protein synthesis','Category','no definition available'),('356961','SLC35A2-CDG','Disease','A rare, congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).'),('356978','D,L-2-hydroxyglutaric aciduria','Disease','A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.'),('35698','Mitochondrial DNA depletion syndrome','Category','The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.'),('356996','ANK3-related intellectual disability-sleep disturbance syndrome','Disease','A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankryin-3 (ANK3 gene). Additional features observed may incude muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.'),('357','NON RARE IN EUROPE: Gilbert syndrome','Disease','no definition available'),('357001','19p13.13 microdeletion syndrome','Malformation syndrome','A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).'),('357008','Hemolytic uremic syndrome with DGKE deficiency','Disease','no definition available'),('35701','3-hydroxy-3-methylglutaryl-CoA synthase deficiency','Disease','3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.'),('357027','Hereditary retinoblastoma','Clinical subtype','no definition available'),('357034','Non-hereditary retinoblastoma','Clinical subtype','no definition available'),('35704','L-Arginine:glycine amidinotransferase deficiency','Disease','L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.'),('357043','Amyotrophic lateral sclerosis type 4','Disease','A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.'),('35705','Neurometabolic disorder due to serine deficiency','Category','Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms).'),('357058','Autosomal recessive cutis laxa type 2A','Disease','A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.'),('35706','Glutaric acidemia type 3','Disease','Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.'),('357064','Autosomal recessive cutis laxa type 2B','Disease','A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.'),('357074','Autosomal recessive cutis laxa type 2, classic type','Clinical subtype','no definition available'),('35708','Aromatic L-amino acid decarboxylase deficiency','Disease','A very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.'),('35710','Glucose-galactose malabsorption','Disease','Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.'),('357107','Arterial thoracic outlet syndrome','Clinical subtype','A form of thoracic outlet syndrome that presents as unilateral upper extremity ischemia.'),('357131','Venous thoracic outlet syndrome','Clinical subtype','Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.'),('357154','Oral submucous fibrosis','Disease','Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.'),('357158','Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome','Disease','Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome is a rare developmental defect during embryogenesis disorder characterized by macroblepharon, ectropion, and facial dysmorphism which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, increased density of upper eyelases, anterverted nares, abnormal dentition and capillary hemangioma.'),('357175','Short ulna-dysmorphism-hypotonia-intellectual disability syndrome','Malformation syndrome','Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.'),('357220','Primary essential cutis verticis gyrata','Disease','Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.'),('357225','Primary non-essential cutis verticis gyrata','Disease','Primary non-essential cutis verticis gyrata is a rare, genetic, dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).'),('357237','Severe combined immunodeficiency due to CARD11 deficiency','Disease','Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.'),('357329','Combined immunodeficiency due to IL21R deficiency','Disease','A rare, genetic, non-severe combined immunodeficiency disorder characterized by variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency, manifesting with recurrent respiratory and/or gastrointestinal tract infections and, in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection.'),('357332','Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome','Malformation syndrome','A rare, genetic, congenital limb malformation syndrome characterized by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.'),('35737','Morning glory disc anomaly','Morphological anomaly','A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.'),('357502','Idiopathic nephrotic syndrome','Clinical group','A rare primary glomerular group of diseases characterized by the triad of edema, massive, or nephrotic-range, proteinuria and hypoalbuminemia, for which there is no known cause. Depending on response to treatment, disease is distinguished into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS), with the latter being further divided, depending on occurrence, into familial or sporadic forms.'),('357506','Genetic non-syndromic renal or urinary tract malformation','Category','no definition available'),('358','Gitelman syndrome','Disease','A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.'),('35807','Malignant germ cell tumor of ovary','Category','Malignant germ cell tumor of ovary is a rare ovarian cancer (see this term) arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.'),('35808','Malignant sex cord stromal tumor of ovary','Category','Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.'),('35858','Imerslund-Gräsbeck syndrome','Disease','Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.'),('35878','Hyperinsulinism-hyperammonemia syndrome','Disease','Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism (see this term), characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.'),('35889','Acute opioid poisoning','Disease','A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.'),('359','Hereditary glaucoma','Category','Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.'),('35909','Combined deficiency of factor V and factor VIII','Disease','Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.'),('35981','Polymicrogyria','Clinical group','Polymicrogyria (PMG) is a heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy'),('36','Acrocallosal syndrome','Malformation syndrome','A polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.'),('360','Glioblastoma','Disease','Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).'),('361','Familial glucocorticoid deficiency','Disease','Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.'),('362','NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency','Disease','no definition available'),('36204','Intestinal lymphangiectasia','Clinical group','no definition available'),('36205','OBSOLETE: Collagenous colitis','Clinical subtype','no definition available'),('36234','Bacterial toxic-shock syndrome','Disease','Bacterial toxic shock syndrome (TSS) is a potentially fatal, acute disease characterized by a sudden onset of high fever along with nausea, myalgia, vomiting and multisystem organ involvement, potentially leading to shock and death. TSS is mediated by superantigenic toxins, usually caused by an infection with Staphylococcus aureus in staphylococcal TSS (see this term) or Streptococcus pyogenes in streptococcal TSS (see this term).'),('36235','Staphylococcal scarlet fever','Disease','A rare bacterial infectious disease most prominently characterized by a red, sandpaper-like rash, a strawberry-like tongue, and a flushed face with perioral pallor. Other clinical symptoms include pharyngitis, tonsillitis, fever, headaches, and swollen lymph nodes. Potential complications are sinusitis, pneumonia, rheumatic fever, glomerulonephritis, and endocarditis, among others. The disease is caused by infection with toxin producing strains of Streptococcus pyogenes and can affect people of any age, although it is most common in children.'),('36236','Staphylococcal scalded skin syndrome','Disease','A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.'),('36237','Bullous impetigo','Disease','A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated.'),('36238','Staphylococcal necrotizing pneumonia','Disease','Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.'),('36258','Buerger disease','Disease','Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.'),('36273','Gastric linitis plastica','Disease','Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.'),('36297','NON RARE IN EUROPE: Anorexia nervosa','Disease','no definition available'),('363189','Congenital anomaly of the great veins','Category','no definition available'),('363203','Ring chromosome','Category','no definition available'),('363245','Genetic progeroid syndrome','Category','no definition available'),('363250','Ciliopathy','Category','no definition available'),('363266','OBSOLETE: Rare hereditary iron overload disease','Category','no definition available'),('363294','Genetic syndromic Pierre Robin syndrome','Category','no definition available'),('363300','Genetic intractable diarrhea of infancy','Category','no definition available'),('363306','Genetic intestinal disease due to fat malabsorption','Category','no definition available'),('363314','Genetic intestinal polyposis','Category','no definition available'),('363396','High myopia-sensorineural deafness syndrome','Disease','High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.'),('363400','Severe neurodegenerative syndrome with lipodystrophy','Disease','Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.'),('363409','Fetal akinesia-cerebral and retinal hemorrhage syndrome','Disease','Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.'),('363412','Hypomyelination with brain stem and spinal cord involvement and leg spasticity','Disease','Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.'),('363417','Temtamy preaxial brachydactyly syndrome','Malformation syndrome','Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.'),('363424','Multiple mitochondrial dysfunctions syndrome type 3','Disease','A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes.'),('363429','Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome','Disease','A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.'),('363432','Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency','Clinical subtype','A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.'),('363444','THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome','Malformation syndrome','THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.'),('363447','Autosomal dominant childhood-onset proximal spinal muscular atrophy','Disease','A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.'),('363454','BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy','Etiological subtype','no definition available'),('363472','Tumor of testis and paratestis','Category','no definition available'),('363478','Paratesticular adenocarcinoma','Disease','A rare, locally invasive or malignant, urogenital tumor characterized by a gland-forming epithelial neoplasm arising from paratesticular structures, typically manifesting with a palpable scrotal mass, with or without hydrocele, and/or testicular pain.'),('363483','Testicular teratoma','Disease','A rare neoplastic disease characterized by the presence of a testicular tumor composed of several, well-differentiated or immature, tissues derived from one or more of the 3 germinal layers. Patients typically present unilateral (occasionally bilateral) painless testicular swelling or a palpable testicular nodule/mass.'),('363489','Sex cord-stromal tumor of testis','Disease','no definition available'),('363494','Non-seminomatous germ cell tumor of testis','Disease','Testicular non seminomatous germ cell tumor describes a group of testicular germ cell tumors (see this term) occurring in the third decade of life (mean age: 25 years) with a usually painless unilateral mass in the scrotum or in some cases with gynaecomastia and/or back and flack pain and characterized by a more aggressive clinical course than testicular seminomatous germ cell tumors (see this term) with rapid involvement of blood vessels and a poorer prognosis. Histologically, they can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components.'),('363504','Germ cell tumor of testis','Category','no definition available'),('363523','Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome','Disease','Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with significant speech and language impairment, hypohydrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.'),('363528','Intellectual disability-strabismus syndrome','Disease','Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.'),('363534','Mitochondrial DNA depletion syndrome, hepatocerebrorenal form','Disease','Mitochondrial DNA depletion syndrome, hepatocerebrorenal form is a rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.'),('363540','Leukoencephalopathy with mild cerebellar ataxia and white matter edema','Disease','A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.'),('363543','Autosomal recessive limb-girdle muscular dystrophy type 2R','Disease','no definition available'),('363549','Acute encephalopathy with biphasic seizures and late reduced diffusion','Disease','A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.'),('36355','Bleeding disorder due to P2Y12 defect','Disease','P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.'),('363558','New-onset refractory status epilepticus','Disease','New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.'),('363567','Acute encephalopathy with inflammation-mediated status epilepticus','Clinical group','no definition available'),('363579','Extragonadal germ cell tumor','Category','no definition available'),('363582','Gonadal germ cell tumor','Category','no definition available'),('363611','Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome','Disease','Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).'),('363618','LMNA-related cardiocutaneous progeria syndrome','Disease','LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.'),('363623','GMPPB-related limb-girdle muscular dystrophy R19','Disease','A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.'),('363629','OBSOLETE: GMPPB-related congenital muscular dystrophy','Disease','no definition available'),('363649','Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome','Disease','Mandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.'),('363654','X-linked parkinsonism-spasticity syndrome','Disease','A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.'),('363659','20q11.2 microduplication syndrome','Malformation syndrome','20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.'),('363665','Acroosteolysis-keloid-like lesions-premature aging syndrome','Disease','A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.'),('36367','Distal monosomy 1q','Malformation syndrome','1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.'),('363677','Childhood-onset autosomal recessive myopathy with external ophthalmoplegia','Disease','A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration.'),('363680','2p13.2 microdeletion syndrome','Malformation syndrome','A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.'),('363686','Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome','Disease','Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.'),('363694','Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome','Disease','Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.'),('363700','Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion','Etiological subtype','no definition available'),('363705','Craniofaciofrontodigital syndrome','Disease','Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).'),('363710','Spinocerebellar ataxia type 37','Disease','An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.'),('363717','Alexander disease type I','Clinical subtype','An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.'),('363722','Alexander disease type II','Clinical subtype','An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.'),('363727','X-linked dyserythropoietic anemia with abnormal platelets and neutropenia','Disease','X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.'),('363741','Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome','Disease','Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome is a rare, genetic, syndromic microphthalmia disorder characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.'),('363746','Balint syndrome','Disease','Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.'),('36382','Familial cervical artery dissection','Disease','Familial cervical artery dissection is a rare, genetic, neurological disorder characterized by dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome, and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed.'),('36383','COL4A1-related familial vascular leukoencephalopathy','Disease','COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.'),('36386','Hereditary sensory and autonomic neuropathy type 1','Disease','Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.'),('36387','Generalized epilepsy with febrile seizures-plus','Disease','Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).'),('36388','Paraneoplastic neurologic syndrome','Category','Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions.'),('363958','17q21.31 microdeletion syndrome','Etiological subtype','no definition available'),('363965','Koolen-De Vries syndrome due to a point mutation','Etiological subtype','no definition available'),('363969','Autosomal recessive cerebral atrophy','Disease','A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.'),('36397','Adiposis dolorosa','Disease','A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity.'),('363972','Noonan syndrome-like disorder with juvenile myelomonocytic leukemia','Malformation syndrome','A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.'),('363976','Giant cell tumor of bone','Disease','A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.'),('363981','Charcot-Marie-Tooth disease type 4B3','Disease','Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).'),('363989','Familial benign flecked retina','Disease','Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.'),('363992','Ichthyosis-short stature-brachydactyly-microspherophakia syndrome','Disease','A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.'),('363999','Non-immune hydrops fetalis','Clinical subtype','Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.'),('364','Glycogen storage disease due to glucose-6-phosphatase deficiency','Disease','Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.'),('364013','Immune hydrops fetalis','Clinical subtype','Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.'),('364028','X-linked intellectual disability due to GRIA3 mutations','Disease','A rare, genetic, X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, ren arcuatus, delayed motor development and disturbed sleep-wake cycle.'),('364033','Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood','Disease','A rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.'),('364039','Hydroa vacciniforme-like lymphoma','Disease','A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported.'),('364043','ALK-positive large B-cell lymphoma','Disease','A very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.'),('364055','Severe early-childhood-onset retinal dystrophy','Disease','Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.'),('364063','Infantile epileptic-dyskinetic encephalopathy','Disease','A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.'),('36412','Hypocomplementemic urticarial vasculitis','Disease','Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.'),('36414','OBSOLETE: Brain stem tumor','Clinical group','no definition available'),('364198','Bipartite talus','Morphological anomaly','A rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.'),('36426','Stevens-Johnson syndrome','Clinical subtype','A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.'),('364526','Primary bone dysplasia','Category','no definition available'),('364531','Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments','Category','no definition available'),('364536','Primary bone dysplasia with micromelia','Category','no definition available'),('364541','Otopalatodigital syndrome spectrum disorder','Clinical group','Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.'),('364559','Dysostosis','Category','no definition available'),('364568','Dysostosis with limb anomaly as a major feature','Category','no definition available'),('364571','Dysostosis with limb and face anomalies as a major feature','Category','no definition available'),('364574','Acrofacial dysostosis','Clinical group','no definition available'),('364577','Intellectual disability-brachydactyly-Pierre Robin syndrome','Malformation syndrome','Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.'),('364803','Rare bone disease related to a common gene or pathway defect','Category','no definition available'),('364817','Aggrecan-related bone disorder','Category','no definition available'),('364820','TRPV4-related bone disorder','Category','no definition available'),('365','Glycogen storage disease due to acid maltase deficiency','Disease','Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal.'),('365563','Primary short bowel syndrome','Clinical group','no definition available'),('366','Glycogen storage disease due to glycogen debranching enzyme deficiency','Disease','Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.'),('367','Glycogen storage disease due to glycogen branching enzyme deficiency','Disease','Glycogen branching enzyme (GBE) deficiency (Andersen`s disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms).'),('368','Glycogen storage disease due to muscle glycogen phosphorylase deficiency','Disease','Myophosphorylase deficiency (McArdle`s disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.'),('36899','Myoclonus-dystonia syndrome','Disease','Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with `lightning-like` myoclonic jerks.'),('369','Glycogen storage disease due to liver glycogen phosphorylase deficiency','Disease','Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers` disease, GSD 6b) is a benign and rare form of glycogen storage disease.'),('36913','Autoimmune hypoparathyroidism','Disease','no definition available'),('369837','Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome','Malformation syndrome','Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.'),('369840','TRAPPC11-related limb-girdle muscular dystrophy R18','Disease','A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.'),('369847','Intellectual disability-hyperkinetic movement-truncal ataxia syndrome','Disease','A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported.'),('369852','Congenital neutropenia-myelofibrosis-nephromegaly syndrome','Disease','Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).'),('369861','Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome','Disease','Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.'),('369867','Autosomal recessive intermediate Charcot-Marie-Tooth disease type C','Disease','A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.'),('369873','Obesity due to SIM1 deficiency','Etiological subtype','A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.'),('369881','2p21 microdeletion syndrome without cystinuria','Malformation syndrome','2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.'),('369886','Homozygous 2p21 microdeletion syndrome','Clinical group','no definition available'),('369891','Developmental delay-facial dysmorphism syndrome due to MED13L deficiency','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (i.e. broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and, variably, macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight), and brain morphology anomalies (such as ventriculomegaly and myelination defects).'),('369894','OBSOLETE: Early infantile epileptic encephalopathy without suppression burst','Disease','no definition available'),('369897','Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies','Disease','A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.'),('369902','OBSOLETE: DDX59-related orofaciodigital syndrome','Malformation syndrome','no definition available'),('369913','Combined oxidative phosphorylation defect type 17','Disease','Combined oxidative phosphorylation defect type 17 is a rare, genetic, mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported.'),('369920','Pontocerebellar hypoplasia type 9','Malformation syndrome','Pontocerebellar hypoplasia type 9 is a rare, genetic, subtype of non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ``figure of 8`` midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.'),('369929','Primary hyperaldosteronism-seizures-neurological abnormalities syndrome','Disease','A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).'),('369939','Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome','Malformation syndrome','A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).'),('369942','CADDS','Disease','CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).'),('369950','Intellectual disability-seizures-macrocephaly-obesity syndrome','Disease','Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.'),('369955','Methylmalonic acidemia with homocystinuria, type cblJ','Clinical subtype','no definition available'),('369962','Methylmalonic acidemia with homocystinuria, type cblX','Clinical subtype','no definition available'),('369970','Microcornea-myopic chorioretinal atrophy-telecanthus syndrome','Disease','Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.'),('369979','Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome','Malformation syndrome','Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.'),('369992','Severe dermatitis-multiple allergies-metabolic wasting syndrome','Disease','Severe dermatitis-multiple allergies-metabolic wasting syndrome is a rare, genetic, epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.'),('369999','Diffuse palmoplantar keratoderma with painful fissures','Disease','Diffuse palmoplantar keratoderma with painful fissures is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.'),('37','Acrodermatitis enteropathica','Disease','A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.'),('370','Glycogen storage disease due to phosphorylase kinase deficiency','Clinical group','Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms).'),('370002','Focal palmoplantar keratoderma with joint keratoses','Disease','Focal palmoplantar keratoderma with joint keratoses is a rare, genetic, isolated palmoplantar keratoderma disorder characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.'),('370006','Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome','Malformation syndrome','no definition available'),('370010','Intellectual disability-facial dysmorphism-hand anomalies syndrome','Malformation syndrome','Intellectual disability-facial dysmorphism-hand anomalies syndrome is a rare syndromic intellectual disability disorder characterized by moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly), and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.'),('370015','Spondyloepimetaphyseal dysplasia, Isidor type','Disease','Spondyloepimetaphyseal dysplasia, Isidor type is rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genum varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.'),('370019','Spondylometaphyseal dysplasia, Czarny-Ratajczak type','Disease','Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly.'),('370022','Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome','Disease','A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.'),('370026','Acute myeloid leukemia with t(8;16)(p11;p13) translocation','Disease','A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.'),('370034','Familial syringomyelia','Clinical subtype','no definition available'),('370039','Angora hair nevus','Disease','A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko`s lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.'),('370046','Didymosis aplasticosebacea','Disease','Didymosis aplasticosebacea is a rare skin disorder characterized by the co-ocurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva.'),('370052','SCALP syndrome','Disease','SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemishpere enlargement.'),('370059','NEVADA syndrome','Disease','NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.'),('370068','Fetal anticonvulsant syndrome','Clinical group','no definition available'),('370076','Fetal carbamazepine syndrome','Malformation syndrome','Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.'),('370079','Proximal 16p11.2 microduplication syndrome','Malformation syndrome','Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.'),('370088','Acute infantile liver failure-multisystemic involvement syndrome','Disease','A rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.'),('370091','Oculocutaneous albinism type 5','Disease','Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.'),('370097','Oculocutaneous albinism type 6','Disease','Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1).'),('370103','Primary dystonia, DYT17 type','Disease','Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.'),('370106','Rare disorder with dystonia and other neurologic or systemic manifestation','Category','no definition available'),('370109','Ataxia-telangiectasia variant','Disease','A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.'),('370114','Combined cervical dystonia','Disease','no definition available'),('370127','Medich giant platelet syndrome','Disease','Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.'),('370131','White platelet syndrome','Disease','White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.'),('370334','Extraskeletal Ewing sarcoma','Disease','Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.'),('370348','Peripheral primitive neuroectodermal tumor','Disease','A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.'),('370396','Small cell carcinoma of the ovary','Disease','Small cell carcinoma of the ovary is a rare, highly aggressive, poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcemia. Occasional familial cases have been reported.'),('37042','Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome','Disease','A rare immunodysregulatory disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.'),('370921','STT3A-CDG','Disease','STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).'),('370924','STT3B-CDG','Disease','STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).'),('370927','SSR4-CDG','Disease','SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).'),('370930','XYLT1-CDG','Disease','XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.'),('370933','GM3 synthase deficiency','Clinical group','GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.'),('370938','Salt-and-pepper syndrome','Disease','A rare, genetic, congenital disorder of glycosylation with neurological involvement disorder characterized by the association of severe intellectual disability with altered dermal pigmentation (scattered hyper-and hypo-pigmented macules ranging from 1 to 5 mm on the face, trunk and extremities). Additional variable manifestations include scoliosis, choreoathetosis, seizures, spasticity and nonspecific abnormal electrocardiogram. Reported facial dysmorphism includes microcephaly, midface hypoplasia, and prominent lower face. Radiographic examination shows decreased bone mineralization.'),('370943','Autism spectrum disorder-epilepsy-arthrogryposis syndrome','Disease','SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).'),('370953','Congenital muscular dystrophy due to dystroglycanopathy','Category','no definition available'),('370959','Congenital muscular dystrophy with cerebellar involvement','Disease','Congenital muscular dystrophy with cerebellar involvement is a rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscule weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.'),('370968','Congenital muscular dystrophy with intellectual disability','Disease','Congenital muscular dystrophy with intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.'),('370980','Congenital muscular dystrophy without intellectual disability','Disease','Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.'),('370997','Muscle-eye-brain disease with bilateral multicystic leucodystrophy','Disease','A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.'),('371','Glycogen storage disease due to muscle phosphofructokinase deficiency','Disease','Muscle phosphofructokinase (PFK) deficiency (Tarui`s disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.'),('371007','Congenital muscular dystrophy with hyperlaxity','Disease','Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.'),('371024','Qualitative or quantitative defects of alpha-dystroglycan','Category','no definition available'),('371040','Primary qualitative or quantitative defects of alpha-dystroglycan','Category','no definition available'),('371047','Congenital disorder of glycosylation with neurological involvement','Category','no definition available'),('371054','X-linked congenital disorder of glycosylation with intellectual disability as a major feature','Category','no definition available'),('371064','Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature','Category','no definition available'),('371071','Congenital disorder of glycosylation with epilepsy as a major feature','Category','no definition available'),('371157','Congenital disorder of glycosylation with hepatic involvement','Category','no definition available'),('371176','Congenital disorder of glycosylation with dilated cardiomyopathy','Category','no definition available'),('371183','Congenital disorder of glycosylation with cardiac malformation as a major feature','Category','no definition available'),('371188','Congenital disorder of glycosylation with intestinal involvement','Category','no definition available'),('371195','Congenital disorder of glycosylation-related bone disorder','Category','no definition available'),('371200','Congenital disorder of glycosylation with skin involvement','Category','no definition available'),('371207','Congenital disorder of glycosylation with nephropathy as a major feature','Category','no definition available'),('371212','Congenital disorder of glycosylation with deafness as a major feature','Category','no definition available'),('371235','Congenital disorder of glycosylation with developmental anomaly','Category','no definition available'),('371364','Hypotonia-speech impairment-severe cognitive delay syndrome','Disease','Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).'),('371428','Multicentric osteolysis-nodulosis-arthropathy spectrum','Disease','A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.'),('371433','Genetic periodic paralysis','Category','no definition available'),('371436','Genetic neurovascular malformation','Category','no definition available'),('371439','OBSOLETE: Genetic cerebrovascular dementia','Category','no definition available'),('371442','Sphingolipidosis with epilepsy','Category','no definition available'),('371445','Genetic syndromic esophageal malformation','Category','no definition available'),('371861','Genetic hyperaldosteronism','Category','no definition available'),('37202','Interstitial cystitis','Disease','Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.'),('373','Simpson-Golabi-Behmel syndrome','Malformation syndrome','Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.'),('374','Goldenhar syndrome','Malformation syndrome','no definition available'),('375','Anti-glomerular basement membrane disease','Disease','A rapidly progressive and generally fulminant rare autoimmune condition characterized by the presence of anti-GBM antibodies, affecting glomerular and/or pulmonary capillaries. It may manifest as an isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage (Goodpasture`s syndrome).'),('37553','Andersen-Tawil syndrome','Disease','A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.'),('37559','Acquired kinky hair syndrome','Disease','A rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.'),('376','Gordon syndrome','Malformation syndrome','Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.'),('37612','Episodic ataxia type 1','Disease','Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.'),('37629','Neonatal neutropenia','Disease','no definition available'),('376724','Generalized isolated dystonia','Category','no definition available'),('377','Gorlin syndrome','Malformation syndrome','A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.'),('37748','Schnitzler syndrome','Malformation syndrome','Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.'),('378','NON RARE IN EUROPE: Sjögren syndrome','Disease','no definition available'),('379','Chronic granulomatous disease','Disease','Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.'),('38','Acrokeratoelastoidosis of Costa','Disease','A rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later'),('380','Greig cephalopolysyndactyly syndrome','Malformation syndrome','A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.'),('381','Griscelli syndrome','Disease','Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3).'),('382','Guanidinoacetate methyltransferase deficiency','Disease','Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.'),('383','X-linked mixed deafness with perilymphatic gusher','Clinical subtype','no definition available'),('384','Huriez syndrome','Disease','no definition available'),('385','Neurodegeneration with brain iron accumulation','Clinical group','Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.'),('386','Hepatic cystic hamartoma','Disease','Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).'),('387','NON RARE IN EUROPE: Hidradenitis suppurativa','Disease','no definition available'),('388','Hirschsprung disease','Disease','Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.'),('38874','Dihydropyrimidinuria','Disease','Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.'),('389','Langerhans cell histiocytosis','Disease','Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.'),('39','Acromelanosis','Disease','A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.'),('390','Histoplasmosis','Disease','A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become progressive and disseminated, involving multiple organs and presenting with fever, pneumonia, hepatosplenomegaly, skin infiltrates, and endocarditis, among others.'),('39041','Omenn syndrome','Disease','Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).'),('39044','Uveal melanoma','Disease','Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.'),('391','Classic Hodgkin lymphoma','Disease','Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.'),('391307','Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome','Malformation syndrome','Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.'),('391311','Susceptibility to viral and mycobacterial infections due to STAT1 deficiency','Disease','Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.'),('391316','Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression','Disease','Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.'),('391320','East Texas bleeding disorder','Disease','East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.'),('391327','X-linked calvarial hyperostosis','Disease','X-linked calvarial hyperostosis is a rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.'),('391330','X-linked osteoporosis with fractures','Disease','X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.'),('391343','Fatal post-viral neurodegenerative disorder','Disease','Fatal post-viral neurodegenerative disorder is a rare neuroinflammatory disease characterized by the onset of ataxia, dysarthia and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertrigliceridemia, hypofibrinogenemia and hyperferritinemia.'),('391348','Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome','Disease','Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.'),('391351','SURF1-related Charcot-Marie-Tooth disease type 4','Disease','A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).'),('391366','Growth retardation-mild developmental delay-chronic hepatitis syndrome','Disease','Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia.'),('391372','Intellectual disability-severe speech delay-mild dysmorphism syndrome','Malformation syndrome','Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.'),('391376','Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome','Disease','Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.'),('391381','Disorder of asparagine metabolism','Category','no definition available'),('391384','Familial episodic pain syndrome','Disease','Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.'),('391389','Familial episodic pain syndrome with predominantly upper body involvement','Clinical subtype','Familial episodic pain syndrome with predominantly upper body involvement is a subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.'),('391392','Familial episodic pain syndrome with predominantly lower limb involvement','Clinical subtype','Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.'),('391397','Hereditary sensory and autonomic neuropathy type 7','Disease','A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal.'),('391408','Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome','Disease','Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.'),('391411','Atypical juvenile parkinsonism','Disease','A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.'),('391417','HSD10 disease','Disease','HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.'),('391428','HSD10 disease, infantile type','Clinical subtype','HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.'),('391457','HSD10 disease, neonatal type','Clinical subtype','HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.'),('391474','Frontorhiny','Malformation syndrome','Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.'),('391479','OBSOLETE: Syndromic frontonasal dysplasia','Clinical group','no definition available'),('391487','Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome','Disease','An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.'),('391490','Adult-onset myasthenia gravis','Clinical subtype','A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.'),('391497','Juvenile myasthenia gravis','Clinical subtype','Juvenile myasthenia gravis (MG; see this term) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.'),('391504','Transient neonatal myasthenia gravis','Clinical subtype','Transient neonatal myasthenia gravis (MG) is a rare form of MG (see this term) occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.'),('391641','Feingold syndrome type 1','Clinical subtype','Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.'),('391646','Feingold syndrome type 2','Clinical subtype','Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.'),('391651','Glomus tumor','Disease','A rare soft tissue tumor characterized by a nodular lesion composed of cells closely resembling the modified smooth muscle cells of the normal glomus body. The tumors most often arise in the skin or soft tissues of the distal extremities, in particular the subungual region, but have been reported in almost any location. They occur as typical glomus tumors, glomangiomatosis (multiple nodules of solid glomus tumor investing the vascular walls), symplastic (showing striking nuclear atypia without mitotic activity or necrosis) or malignant glomus tumors, and glomus tumors of uncertain malignant potential.'),('391655','Off-periods in Parkinson disease not responding to oral treatment','Particular clinical situation in a disease or syndrome','no definition available'),('391658','OBSOLETE: Cowpox infection','Disease','no definition available'),('391665','Homozygous familial hypercholesterolemia','Disease','A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction.'),('391673','Necrotizing enterocolitis','Disease','no definition available'),('391677','Short stature-optic atrophy-Pelger-Huët anomaly syndrome','Malformation syndrome','A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.'),('391711','Persistent combined dystonia','Clinical group','no definition available'),('391723','Mucinous adenocarcinoma of the appendix','Disease','Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.'),('391799','Rare genetic dystonia','Category','no definition available'),('392','Holt-Oram syndrome','Malformation syndrome','A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.'),('393','46,XX testicular disorder of sex development','Malformation syndrome','A rare disorder of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.'),('394','Classic homocystinuria','Disease','Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.'),('394529','Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type','Clinical subtype','no definition available'),('394532','Multiple acyl-CoA dehydrogenase deficiency, mild type','Clinical subtype','no definition available'),('395','Homocystinuria due to methylene tetrahydrofolate reductase deficiency','Disease','Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.'),('396','Chronic hiccup','Disease','Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.'),('397','Giant cell arteritis','Disease','Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.'),('397587','Deep dermatophytosis','Disease','A rare mycosis characterized by severe, potentially life-threatening dermal and subcutaneous tissue invasion by dermatophytes. Dissemination to lymph nodes is frequent, but the infection may also occasionally spread to the central nervous system. Cutaneous signs and symptoms include erythema, desquamation, itching, nodules, plaques, or ulceration. The majority of deep dermatophytoses develop in immunocompromised patients.'),('397590','Silver-Russell syndrome due to a point mutation','Etiological subtype','no definition available'),('397593','Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency','Disease','Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.'),('397596','Activated PI3K-delta syndrome','Disease','A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lympadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.'),('397606','PrP systemic amyloidosis','Disease','Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.'),('397612','Macrocephaly-developmental delay syndrome','Malformation syndrome','Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.'),('397615','Obesity due to CEP19 deficiency','Etiological subtype','A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported.'),('397618','Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome','Disease','Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.'),('397623','Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome','Malformation syndrome','Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.'),('397685','Familial hyperprolactinemia','Disease','Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.'),('397692','Hereditary isolated aplastic anemia','Disease','Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.'),('397695','3q27.3 microdeletion syndrome','Disease','3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.'),('397709','Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome','Malformation syndrome','Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.'),('397715','Joubert syndrome with Jeune asphyxiating thoracic dystrophy','Malformation syndrome','A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.'),('397725','COASY protein-associated neurodegeneration','Disease','COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.'),('397735','Autosomal dominant Charcot-Marie-Tooth disease type 2U','Disease','A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.'),('397744','Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome','Disease','Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.'),('397750','Periodic paralysis with later-onset distal motor neuropathy','Disease','Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.'),('397755','Periodic paralysis with transient compartment-like syndrome','Disease','Periodic paralysis with transient compartment-like syndrome is a rare, genetic, neuromuscular disease characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.'),('397758','Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies','Disease','Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.'),('397787','Severe combined immunodeficiency due to IKK2 deficiency','Disease','Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.'),('397802','T+ B+ severe combined immunodeficiency','Clinical group','no definition available'),('397922','Ferro-cerebro-cutaneous syndrome','Disease','Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, wiedely spaced and pointed teeth with delayed eruption, and gingival overgrowth.'),('397927','Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome','Malformation syndrome','Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.'),('397933','Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome','Disease','Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.'),('397937','Polyglucosan body myopathy type 1','Disease','Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.'),('397941','MAN1B1-CDG','Disease','MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).'),('397946','Autosomal spastic paraplegia type 58','Disease','A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.'),('397951','Microcephaly-thin corpus callosum-intellectual disability syndrome','Disease','A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.'),('397959','TCR-alpha-beta-positive T-cell deficiency','Disease','TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.'),('397964','Combined immunodeficiency due to MALT1 deficiency','Disease','Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.'),('397968','Charcot-Marie-Tooth disease type 2R','Disease','Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.'),('397973','Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome','Disease','Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth.'),('398043','Malignant tumor of penis','Category','no definition available'),('398053','Adenocarcinoma of the penis','Disease','An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.'),('398058','Squamous cell carcinoma of the penis','Disease','no definition available'),('398063','Refractory celiac disease','Disease','Refractory celiac disease is a rare intestinal disease characterized by persistent or recurrent symptoms and signs of confirmed celiac disease despite a long-term, strict, gluten-free diet, in the absence of other causes of villous atrophy or malignant complications and with or without presence of increased abnormal intraepitelial lymphocytes.'),('398069','MAGEL2-related Prader-Willi-like syndrome','Disease','no definition available'),('398073','Prader-Willi-like syndrome','Clinical group','Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.'),('398079','SIM1-related Prader-Willi-like syndrome','Disease','no definition available'),('398088','Hereditary cryohydrocytosis with normal stomatin','Disease','Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.'),('398091','Secondary neonatal autoimmune disease','Category','no definition available'),('398097','Neonatal antiphospholipid syndrome','Disease','Neonatal antiphospholipid syndrome is a rare, secondary, neonatal autoimmune disease characterized by single or recurrent episodes of venous, arterial or mixed thrombosis in a neonate whose mother does not have antiphospholipid syndrome manifestations. Patients present positive antiphospholipid antibodies and may have additional abnormalities associated (e.g. cardiac valve disease, livedo reticularis, thrombocytopenia, nephropathy, neurological manifestations).'),('398109','Neonatal autoimmune hemolytic anemia','Disease','Neonatal autoimmune hemolytic anemia is a very rare, secondary, neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated.'),('398117','Neonatal dermatomyositis','Disease','Neonatal dermatomyositis is a very rare, secondary, neonatal autoimmune disease characterized by generalized weakness, severe hypotonia, absent or reduced deep tendon reflexes, and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrophy in the presence of a diffuse perivascular inflammatory cell exudate is observed on muscle biopsy.'),('39812','Graft versus host disease','Disease','A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.'),('398124','Neonatal lupus erythematosus','Disease','A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.'),('398127','Neonatal scleroderma','Disease','Neonatal scleroderma is a very rare, secondary, neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated.'),('398147','Persistent idiopathic facial pain','Disease','A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.'),('398156','Oculoauriculofrontonasal syndrome','Malformation syndrome','Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.'),('398166','Focal facial dermal dysplasia','Malformation syndrome','Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.'),('398173','Focal facial dermal dysplasia type II','Clinical subtype','Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.'),('398189','Focal facial dermal dysplasia type IV','Clinical subtype','Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.'),('398934','Malignant epithelial tumor of ovary','Category','no definition available'),('398940','Malignant non-epithelial tumor of ovary','Category','no definition available'),('398961','Mucinous adenocarcinoma of ovary','Disease','Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and necrotic debris. Patients often present with pelvic pain and pressure, abdominal mass or gastrointestinal problems such as early satiety or bloating.'),('398971','Clear cell adenocarcinoma of the ovary','Disease','Clear cell adenocarcinoma of ovary is a rare, malignant, epithelilal ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported.'),('398980','Primary peritoneal serous/papillary carcinoma','Disease','no definition available'),('398987','Malignant teratoma of ovary','Disease','no definition available'),('399','Huntington disease','Disease','Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.'),('399058','Alpha-B crystallin-related late-onset myopathy','Disease','A rare, genetic, alpha-crystallinopathy disease characterized by adult-onset myofibrillar myopathy, variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopthay changes.'),('399081','KLHL9-related early-onset distal myopathy','Disease','KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.'),('399086','Finnish upper limb-onset distal myopathy','Disease','Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.'),('399096','Distal anoctaminopathy','Disease','Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.'),('399103','Distal nebulin myopathy','Disease','Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.'),('399158','Osteonecrosis','Category','no definition available'),('399164','Avascular necrosis','Category','no definition available'),('399169','Secondary avascular necrosis','Category','no definition available'),('399175','Traumatic avascular necrosis','Disease','no definition available'),('399180','Secondary non-traumatic avascular necrosis','Disease','A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.'),('399185','Rare hereditary disease with avascular necrosis','Category','no definition available'),('399293','Osteonecrosis of the jaw','Disease','no definition available'),('399302','Primary avascular necrosis','Clinical group','no definition available'),('399307','Idiopathic avascular necrosis','Disease','no definition available'),('399319','Osteochondrosis','Category','no definition available'),('399329','Epiphysiolysis of the hip','Disease','Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).'),('399380','Osteonecrosis of genetic origin','Category','no definition available'),('399388','Avascular necrosis of genetic origin','Category','no definition available'),('399391','Osteochondrosis of genetic origin','Category','no definition available'),('399572','Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder','Category','no definition available'),('399584','Rare male infertility due to adrenal disorder','Category','no definition available'),('399685','Rare male infertility due to testicular endocrine disorder','Category','no definition available'),('399764','Male infertility due to gonadal dysgenesis or sperm disorder','Category','no definition available'),('399771','Male infertility due to sperm disorder','Category','no definition available'),('399775','Male infertility with spermatogenesis disorder','Category','no definition available'),('399786','Male infertility with spermatogenesis disorder due to single gene mutation','Category','no definition available'),('399805','Male infertility with azoospermia or oligozoospermia due to single gene mutation','Disease','Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.'),('399808','Male infertility with teratozoospermia due to single gene mutation','Disease','Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.'),('399813','Male infertility due to sperm motility disorder','Category','no definition available'),('399824','Rare disorder with obstructive azoospermia','Category','no definition available'),('399831','Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder','Category','no definition available'),('399839','Rare female infertility due to a congenital hypogonadotropic hypogonadism','Category','no definition available'),('399846','Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism','Category','no definition available'),('399849','Rare female infertility due to an adrenal disorder','Category','no definition available'),('399853','Rare female infertility due to an anomaly of ovarian function','Category','no definition available'),('399877','Rare female infertility due to gonadal dysgenesis','Category','no definition available'),('399882','Rare female infertility due to an implantation defect','Category','no definition available'),('399980','Rare genetic male infertility','Category','no definition available'),('399983','Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin','Category','no definition available'),('399994','Rare male infertility due to adrenal disorder of genetic origin','Category','no definition available'),('399998','Male infertility due to obstructive azoospermia of genetic origin','Category','no definition available'),('40','Acromesomelic dysplasia, Maroteaux type','Malformation syndrome','A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .'),('400','Cystic echinococcosis','Disease','Hydatidosis or cyst hydatic disease is a cosmopolitan larval cestodosis caused principally by the Echinococcus granulosus tapeworm, the adult form of which parasitises the intestine of dogs. Hydatidosis generally affects large domestic herbivores; humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement.'),('400003','Rare genetic disorder with obstructive azoospermia','Category','no definition available'),('400008','Rare genetic female infertility','Category','no definition available'),('400011','Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin','Category','no definition available'),('400018','Rare female infertility due to adrenal disorder of genetic origin','Category','no definition available'),('400022','Rare female infertility due to an anomaly of ovarian function of genetic origin','Category','no definition available'),('400025','Female infertility due to an implantation defect of genetic origin','Category','no definition available'),('40050','NON RARE IN EUROPE: Psoriatic arthritis','Disease','no definition available'),('401','Hymenolepiasis','Disease','Hymenolepiasis is a cosmopolitan parasitosis caused by a hymenolepidid tapeworm infection, most commonly Hymenolepis nana, that is reported worldwide but particularly in tropical and subtropical countries and which is usually asymptomatic but in severe cases can also manifest with nausea, abdominal pain, anorexia, diarrhea and overall weakness.'),('401764','Pancytopenia-developmental delay syndrome','Disease','Pancytopenia-developmental delay syndrome is a rare, genetic, hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.'),('401768','Proximal myopathy with extrapyramidal signs','Disease','Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.'),('401777','Optic atrophy-intellectual disability syndrome','Disease','Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.'),('401780','Autosomal recessive spastic paraplegia type 61','Disease','Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.'),('401785','Autosomal recessive spastic paraplegia type 62','Disease','A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.'),('401795','Autosomal recessive spastic paraplegia type 59','Disease','Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.'),('401800','Autosomal recessive spastic paraplegia type 60','Disease','Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.'),('401805','Autosomal recessive spastic paraplegia type 63','Disease','Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.'),('401810','Autosomal recessive spastic paraplegia type 64','Disease','Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.'),('401815','Autosomal recessive spastic paraplegia type 66','Disease','Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.'),('401820','Autosomal recessive spastic paraplegia type 67','Disease','Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.'),('401825','Autosomal recessive spastic paraplegia type 68','Disease','no definition available'),('401830','Autosomal recessive spastic paraplegia type 69','Disease','Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.'),('401835','Autosomal recessive spastic paraplegia type 70','Disease','Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.'),('401840','Autosomal recessive spastic paraplegia type 71','Disease','Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.'),('401849','Autosomal spastic paraplegia type 72','Disease','Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.'),('401854','Lipoic acid biosynthesis defect','Category','no definition available'),('401859','Lipoic acid synthetase deficiency','Disease','Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.'),('401862','Lipoyl transferase 1 deficiency','Disease','Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.'),('401866','Childhood-onset spasticity with hyperglycinemia','Disease','Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.'),('401869','Multiple mitochondrial dysfunctions syndrome type 1','Disease','no definition available'),('401874','Multiple mitochondrial dysfunctions syndrome type 2','Disease','no definition available'),('401901','Huntington disease-like syndrome due to C9ORF72 expansions','Disease','Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.'),('401911','AXIN2-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('401920','Fibrolamellar hepatocellular carcinoma','Disease','A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.'),('401923','9q31.1q31.3 microdeletion syndrome','Malformation syndrome','9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.'),('401935','14q24.1q24.3 microdeletion syndrome','Malformation syndrome','14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.'),('401942','Familial median cleft of the upper and lower lips','Malformation syndrome','Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.'),('401945','Moyamoya disease with early-onset achalasia','Disease','Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease; see this term). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.'),('401948','Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency','Disease','A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.'),('401953','Episodic ataxia with slurred speech','Disease','Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.'),('401959','Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome','Malformation syndrome','Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.'),('401964','Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons','Disease','A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.'),('401973','MEND syndrome','Malformation syndrome','MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.'),('401979','Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type','Malformation syndrome','Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.'),('401986','1p31p32 microdeletion syndrome','Malformation syndrome','1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.'),('401993','Cold-induced sweating syndrome-hyperthermia spectrum','Clinical group','no definition available'),('401996','Karyomegalic interstitial nephritis','Disease','Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.'),('402003','Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering','Disease','A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.'),('402007','Lichen myxedematosus','Clinical group','no definition available'),('402014','Acute myeloid leukemia with t(6;9)(p23;q34)','Disease','A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.'),('402017','Acute myeloid leukemia with t(9;11)(p22;q23)','Disease','A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.'),('402020','Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)','Disease','A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.'),('402023','Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)','Disease','Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.'),('402026','Acute myeloid leukemia with NPM1 somatic mutations','Disease','A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.'),('402029','Primary eosinophilic gastrointestinal disease','Clinical group','no definition available'),('402035','Eosinophilic colitis','Disease','no definition available'),('402041','Autosomal recessive distal renal tubular acidosis','Clinical subtype','An inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.'),('402075','Familial bicuspid aortic valve','Morphological anomaly','Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).'),('402082','Progressive myoclonic epilepsy type 5','Disease','A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.'),('402364','Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly','Malformation syndrome','Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.'),('402823','Hepatitis delta','Disease','Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.'),('403','Familial hyperaldosteronism type I','Disease','Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.'),('40366','Acitretin/etretinate embryopathy','Malformation syndrome','A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.'),('404','Familial hyperaldosteronism type II','Disease','Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.'),('404437','Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome','Malformation syndrome','Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.'),('404440','Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency','Malformation syndrome','Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.'),('404443','Tall stature-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by greater hight, mild to moderate intellectual disability and distinctive facial appereance like round face, heavy, horizontal eyebrows and narrow palpebral fissures.'),('404448','ADNP syndrome','Malformation syndrome','A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.'),('404451','FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome','Malformation syndrome','FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.'),('404454','Alacrimia-choreoathetosis-liver dysfunction syndrome','Disease','A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.'),('404463','Multisystemic smooth muscle dysfunction syndrome','Disease','Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.'),('404466','Female infertility due to zona pellucida defect','Disease','Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.'),('404469','Rare female infertility due to oocyte maturation defect','Category','no definition available'),('404473','Severe intellectual disability-progressive spastic diplegia syndrome','Malformation syndrome','Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.'),('404476','Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome','Malformation syndrome','Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome is a rare, genetic, overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior.'),('404481','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome','Clinical group','no definition available'),('404493','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency','Disease','A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.'),('404499','Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency','Disease','An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.'),('404507','Chondromyxoid fibroma','Disease','A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.'),('404511','Clear cell papillary renal cell carcinoma','Histopathological subtype','Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.'),('404514','Acquired cystic disease-associated renal cell carcinoma','Disease','A rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.'),('404521','Spinal muscular atrophy with respiratory distress type 2','Disease','Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.'),('404538','X-linked distal hereditary motor neuropathy','Category','no definition available'),('404546','DITRA','Disease','A rare, genetic, autoimflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.'),('404553','Vasculitis due to ADA2 deficiency','Disease','Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.'),('404560','Familial atypical multiple mole melanoma syndrome','Disease','Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.'),('404568','Dysostosis of genetic origin','Category','no definition available'),('404571','Dysostosis of genetic origin with limb anomaly as a major feature','Category','no definition available'),('404574','Genetic syndrome with limb reduction defects','Category','no definition available'),('404577','Genetic syndrome with limb malformations as a major feature','Category','no definition available'),('404580','Polyarticular juvenile idiopathic arthritis','Clinical group','no definition available'),('404584','Rare genetic bone development disorder','Category','no definition available'),('405','Familial hypocalciuric hypercalcemia','Disease','Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.'),('406','NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia','Disease','no definition available'),('407','Glycine encephalopathy','Disease','Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.'),('408','Isolated glycerol kinase deficiency','Disease','Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).'),('409','Hyperkeratosis lenticularis perstans','Disease','no definition available'),('40923','Eales disease','Disease','A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.'),('41','Dyschromatosis symmetrica hereditaria','Disease','A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.'),('411','Hyperlipoproteinemia type 1','Disease','no definition available'),('411493','Pontocerebellar hypoplasia type 10','Malformation syndrome','Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.'),('411501','Williams-Campbell syndrome','Morphological anomaly','A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.'),('411511','Angelman syndrome due to a point mutation','Etiological subtype','no definition available'),('411515','Angelman syndrome due to imprinting defect in 15q11-q13','Etiological subtype','no definition available'),('411527','Central retinal vein occlusion','Particular clinical situation in a disease or syndrome','A rare retinal vasculopathy characterized by impaired venous return from the retinal circulation due to an occlusion occurring within or posterior to the optic nerve head. The clinical presentation is variable and may range from asymptomatic to an abrupt and profound loss of vision. Complications causing visual loss include macular edema, macular ischemia, optic neuropathy, vitreous hemorrhage, tractional retinal detachment, and in more severe cases extensive capillary non-perfusion with a high risk of neovascular glaucoma.'),('411533','NON RARE IN EUROPE: Melanoma','Disease','no definition available'),('411536','Mild phosphoribosylpyrophosphate synthetase superactivity','Clinical subtype','A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.'),('411543','Severe phosphoribosylpyrophosphate synthetase superactivity','Clinical subtype','A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.'),('411590','Wolfram-like syndrome','Disease','Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.'),('411593','Insulin autoimmune syndrome','Disease','no definition available'),('411602','Hereditary late-onset Parkinson disease','Disease','Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).'),('411629','Nephropathic infantile cystinosis','Clinical subtype','Nephropathic infantile cystinosis is the most common and severe form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.'),('411634','Juvenile nephropathic cystinosis','Clinical subtype','Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.'),('411641','Ocular cystinosis','Clinical subtype','Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.'),('411696','Proton-pump inhibitor-responsive esophageal eosinophilia','Disease','Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.'),('411703','Pulmonary non-tuberculous mycobacterial infection','Disease','A rare bacterial infectious disease caused by non-tuberculous mycobacteria (including Mycobacterium avium complex, Mycobacterium kansasii, or Mycobacterium xenopi, among others), characterized by chronic pulmonary disease with symptoms like chronic cough (with or without sputum production), chest pain, and weight loss. Predisposing factors are preexisting lung conditions, neoplasms, immunosuppression, or thoracic skeletal abnormalities.'),('411709','Renal agenesis','Morphological anomaly','Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).'),('411712','Maternal riboflavin deficiency','Disease','Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.'),('411777','Generalized eruptive keratoacanthoma','Disease','Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.'),('411788','Familial isolated trichomegaly','Disease','Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.'),('411969','NON RARE IN EUROPE: Metabolic syndrome','Clinical syndrome','no definition available'),('411986','Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.'),('412','Dysbetalipoproteinemia','Disease','A rare combined hyperlipidemia (HLP type 3) characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of progressive atherosclerosis and premature cardiovascular disease.'),('412022','Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome','Malformation syndrome','Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.'),('412035','13q12.3 microdeletion syndrome','Malformation syndrome','13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.'),('412057','Autosomal recessive cerebellar ataxia due to STUB1 deficiency','Disease','A rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.'),('412066','PRKAR1B-related neurodegenerative dementia with intermediate filaments','Disease','PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.'),('412069','AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome','Malformation syndrome','A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.'),('412181','Epidermolysis bullosa simplex due to BP230 deficiency','Disease','Epidermolysis bullosa simplex due to BP230 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimetres big.'),('412189','Epidermolysis bullosa simplex due to exophilin 5 deficiency','Disease','Epidermolysis bullosa simplex due to exophilin 5 deficiency is a rare, hereditary, basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.'),('412206','Primary failure of tooth eruption','Disease','no definition available'),('412217','Dystonia-aphonia syndrome','Disease','Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.'),('412220','OBSOLETE: Ramsay Hunt syndrome type II','Disease','no definition available'),('413','NON RARE IN EUROPE: Hyperlipoproteinemia type 4','Disease','no definition available'),('414','Gyrate atrophy of choroid and retina','Disease','Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.'),('414726','Genetic facial cleft','Category','no definition available'),('415','Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome','Disease','A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.'),('415268','NON RARE IN EUROPE: Adenocarcinoma of the lung','Disease','no definition available'),('415286','Bilirubin encephalopathy','Clinical group','no definition available'),('415300','NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy','Disease','no definition available'),('415675','OBSOLETE: Small pox','Disease','no definition available'),('415687','NON RARE IN EUROPE: Sudden infant death syndrome','Disease','no definition available'),('416','Primary hyperoxaluria','Disease','A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.'),('417','Neonatal severe primary hyperparathyroidism','Disease','Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.'),('41751','Bietti crystalline dystrophy','Disease','Bietti`s crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.'),('418','Congenital adrenal hyperplasia','Clinical group','Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.'),('41842','NON RARE IN EUROPE: Fibromyalgia','Disease','no definition available'),('418945','Carcinoma of esophagus, salivary gland type','Disease','A rare gastroesophageal tumor characterized by a typically submucosal tumor occurring usually in the middle to distal esophagus and histologically characterized as either mucoepidermoid (intimate mixture of mucus, intermediate, and epidermoid cells) or as adenoid cystic carcinoma (biphasic admixture of duct‐lining epithelial and myoepithelial cells with tubular, cribriform, solid, or basaloid growth patterns). Patients may be asymptomatic or may present with progressive dysphagia, heartburn, retrosternal pain and/or weight loss.'),('418951','Undifferentiated carcinoma of esophagus','Disease','A rare, aggressive, malignant, epithelial carcinoma of the esophagus characterized, macroscopically, by an exophytic mass with central ulceration located on the esophagus and, histologically, by a sheet-like growth of neoplastic cells without significant glandular, squamous or neuroendocrine differentiation. Patients may present with progressive dysphagia, long-standing history of gastroesophageal reflux, weight loss, anemia, abdominal or chest pain/pressure, dyspnea, and/or hematemesis. Presence or history of Barrett esophagus is frequently associated.'),('418959','Squamous cell carcinoma of the stomach','Disease','Squamous cell carcinoma of stomach is a rare epithelial tumour of stomach, defined histropathologically as keratinizing cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges, and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without esophageal involvement. It is characterized by preferential location in the upper third of the stomach, high probability of lymphovascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melena or hematochezia, haematemesis and weight loss.'),('419','Hyperprolinemia type 1','Disease','Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).'),('42','Medium chain acyl-CoA dehydrogenase deficiency','Disease','Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.'),('420179','Malan overgrowth syndrome','Malformation syndrome','Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.'),('420259','Secondary pulmonary alveolar proteinosis','Disease','A rare, acquired, interstitial lung disease, characterized by alveolar surfactant accumulation, cough, progressive dyspnea and respiratory insufficiency. The disease may be secondary to hematological disorder, toxic inhalation, and infection or may occur within the setting of immunosuppression after transplantation.'),('420402','Semicircular canal dehiscence syndrome','Clinical syndrome','Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.'),('420429','Glycogen storage disease due to acid maltase deficiency, late-onset','Clinical subtype','Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.'),('420485','Cranio-cervical dystonia with laryngeal and upper-limb involvement','Disease','Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.'),('420492','Adult-onset cervical dystonia, DYT23 type','Disease','A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.'),('420556','Visual snow syndrome','Disease','Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms.'),('420561','Temple-Baraitser syndrome','Disease','Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.'),('420566','Bleeding disorder due to CalDAG-GEFI deficiency','Disease','Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.'),('420573','Severe combined immunodeficiency due to CTPS1 deficiency','Disease','Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV, including generalized varicella)), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.'),('420584','Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome','Malformation syndrome','Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.'),('420611','Transient myeloproliferative syndrome','Disease','no definition available'),('42062','Iminoglycinuria','Disease','A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.'),('420686','Woolly hair-palmoplantar keratoderma syndrome','Disease','Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.'),('420699','Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency','Disease','Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2.'),('420702','Autosomal recessive severe congenital neutropenia due to CSF3R deficiency','Disease','Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare, genetic, primary immunodeficiency disorder characterized by predisposition to recurrent, life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes (absolute neutrophil count less than 500 cells/microliter), resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.'),('420728','Combined oxidative phosphorylation defect type 20','Disease','Combined oxidative phosphorylation defect type 20 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I).'),('420733','Combined oxidative phosphorylation defect type 21','Disease','Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.'),('420741','RIDDLE syndrome','Malformation syndrome','A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).'),('420755','Rare genetic odontal or periodontal disorder','Category','no definition available'),('420789','Autoimmune encephalopathy with parasomnia and obstructive sleep apnea','Disease','A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.'),('420794','Cono-spondylar dysplasia','Malformation syndrome','Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.'),('422','Idiopathic/heritable pulmonary arterial hypertension','Disease','Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH, see this term) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH; see this term) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown .'),('422519','OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency','Clinical group','no definition available'),('422526','Hereditary clear cell renal cell carcinoma','Disease','Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.'),('423','Malignant hyperthermia of anesthesia','Disease','Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.'),('423275','Spinocerebellar ataxia type 40','Disease','Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.'),('423296','Spinocerebellar ataxia type 38','Disease','Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.'),('423306','Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.'),('423384','Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency','Disease','Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coractation of aorta, as well as bone and urogenital abnormalities, may also be associated.'),('423454','Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome','Disease','Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.'),('423461','Mucolipidosis type III alpha/beta','Clinical subtype','Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.'),('423470','Mucolipidosis type III gamma','Clinical subtype','Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.'),('423479','X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome','Disease','X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.'),('423655','ARX-related encephalopathy-brain malformation spectrum','Clinical group','no definition available'),('423662','Rare autonomic nervous system disorder','Category','no definition available'),('423668','NON RARE IN EUROPE: Cortisol-producing adrenal tumor','Disease','no definition available'),('423693','Double outlet right ventricle with subaortic or doubly committed ventricular septal defect','Clinical subtype','no definition available'),('423712','Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy','Clinical subtype','no definition available'),('423717','Cutaneous larva migrans','Disease','Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.'),('423771','Rare carcinoma of stomach','Category','no definition available'),('423776','Hereditary gastric cancer','Category','Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach (see these terms) and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome (see these terms).'),('423781','OBSOLETE: Carcinoma of stomach, salivary gland type','Disease','no definition available'),('423786','Undifferentiated carcinoma of stomach','Disease','Undifferentiated carcinoma of stomach is a rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread.'),('423793','Rare tumor of small intestine','Category','no definition available'),('423798','Mesenchymal tumor of small intestine','Category','no definition available'),('423894','Microcephaly-complex motor and sensory axonal neuropathy syndrome','Disease','Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.'),('423957','Rare carcinoma of small intestine','Category','no definition available'),('423968','Squamous cell carcinoma of the small intestine','Disease','Squamous cell carcinoma of the small intestine is an extremely rare, malignant, epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases.'),('423975','Neuroendocrine tumor of the small intestine','Category','no definition available'),('423982','Epithelial tumor of the appendix','Category','no definition available'),('423991','Rare epithelial tumor of colon','Category','no definition available'),('423994','Squamous cell carcinoma of the colon','Disease','Squamous cell carcinoma (SCC) of colon is a rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal SCC. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, hematochesia or melena. Cases of severe, symptomatic hypercalcemia have been reported.'),('423998','Rare epithelial tumor of rectum','Category','no definition available'),('424','Familial hyperthyroidism due to mutations in TSH receptor','Disease','A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.'),('424002','Squamous cell carcinoma of the rectum','Disease','Squamous cell carcinoma (SCC) of rectum is a rare epithelial tumor of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of SCC of anal or gynecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits.'),('424010','Epithelial tumor of anal canal','Category','no definition available'),('424013','Carcinoma of the anal canal','Clinical group','no definition available'),('424016','Adenocarcinoma of the anal canal','Disease','A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.'),('424019','Squamous cell carcinoma of the anal canal','Disease','Squamous cell carcinoma of the anal canal is a rare epithelial intestinal neoplasm, arising from squamous epithelial cells in the anal canal, with variable macroscopic appearance, ranging from small, benign lesions (that mimick fissures, hemorrhoids or anorectal fistulae) to a large, exophytic or ulcerating tumor localized within the anal canal. Patients may be asymptomatic or present difficulty to defecate, anal bleeding, pain and/or discharge, and often have a history of chronic anal fistulae and abscesses, Crohn`s disease, hemorrhoids, or, especially in younger patients, immunosuppression (such as HIV infection). Association with HPV infection is commonly reported.'),('424027','Progressive myoclonic epilepsy type 8','Disease','A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.'),('424033','Rare epithelial tumor of pancreas','Category','no definition available'),('424039','Squamous cell carcinoma of pancreas','Disease','Squamous cell carcinoma of the pancreas is a rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lymphovascular and perineural invasion, as well as high metastatic potential. Patients present with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice.'),('424046','Acinar cell carcinoma of pancreas','Disease','A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.'),('424053','Mucinous cystadenocarcinoma of the pancreas','Disease','A rare, epithelial tumor of the pancreas characterized, histologically, by columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (<3 cm) are usually asymptomatic, while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus.'),('424058','Intraductal papillary mucinous carcinoma of pancreas','Disease','Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis.'),('424065','Solid pseudopapillary carcinoma of pancreas','Disease','Solid pseudopapillary carcinoma of the pancreas is a rare carcinoma of the pancreas characterized by a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting, and weight loss. One-third of the patients are asymptomatic. The tumor has low malignant potential, but can invade locally.'),('424073','Serous cystadenocarcinoma of pancreas','Disease','A very rare, malignant, epithelial tumor of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss.'),('424080','Osteoclastic giant cell tumor of pancreas','Disease','no definition available'),('424099','Colobomatous microphthalmia-rhizomelic dysplasia syndrome','Malformation syndrome','Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.'),('424107','Congenital myopathy with myasthenic-like onset','Disease','Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.'),('424261','TOR1AIP1-related limb-girdle muscular dystrophy','Disease','A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.'),('424925','Qualitative or quantitative defects of Torsin-1A-interacting protein 1','Category','no definition available'),('424933','Rare malignant epithelial tumor of liver and intrahepatic biliary tract','Category','no definition available'),('424936','Carcinoma of liver and intrahepatic biliary tract','Category','no definition available'),('424943','Adenocarcinoma of the liver and intrahepatic biliary tract','Disease','A very rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.'),('424970','Undifferentiated carcinoma of liver and intrahepatic biliary tract','Disease','Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.'),('424975','Squamous cell carcinoma of liver and intrahepatic biliary tract','Disease','Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.'),('424982','Biliary cystadenocarcinoma','Disease','no definition available'),('424991','Adenocarcinoma of the gallbladder and extrahepatic biliary tract','Disease','A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.'),('424996','Squamous cell carcinoma of gallbladder and extrahepatic biliary tract','Disease','Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.'),('425','Apolipoprotein A-I deficiency','Disease','A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).'),('425003','Inherited digestive cancer-predisposing syndrome','Category','no definition available'),('425120','STING-associated vasculopathy with onset in infancy','Disease','STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.'),('425368','Rare epithelial tumor of small intestine','Category','no definition available'),('426','NON RARE IN EUROPE: Familial hypobetalipoproteinemia','Disease','no definition available'),('42642','PFAPA syndrome','Disease','PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.'),('42665','Tietz syndrome','Malformation syndrome','Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.'),('427','Familial hypoaldosteronism','Disease','A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.'),('42738','Severe congenital neutropenia','Clinical group','Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit.'),('42775','PHACE syndrome','Malformation syndrome','PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.'),('428','Autosomal dominant hypocalcemia','Clinical subtype','A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.'),('429','Hypochondroplasia','Disease','Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.'),('43','X-linked adrenoleukodystrophy','Disease','X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.'),('430','OBSOLETE: Hypodermyiasis','Disease','no definition available'),('431','Ichthyosis-male hypogonadism syndrome','Disease','no definition available'),('431140','X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome','Malformation syndrome','X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.'),('431149','Combined immunodeficiency due to OX40 deficiency','Disease','Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.'),('43115','Hereditary myopathy with lactic acidosis due to ISCU deficiency','Disease','A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.'),('431156','Primary immunodeficiency with predisposition to severe viral infection','Category','no definition available'),('43116','Serotonin syndrome','Disease','Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).'),('431166','Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection','Disease','Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.'),('43117','Acute tricyclic antidepressant poisoning','Particular clinical situation in a disease or syndrome','A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.'),('43119','Acute poisoning by drugs with membrane-stabilizing effect','Particular clinical situation in a disease or syndrome','A rare, potentially life-threatening disorder due to toxic effects. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.'),('431255','Scapuloperoneal spinal muscular atrophy','Disease','A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities.'),('431263','Late-onset scapuloperoneal muscular dystrophy with hyaline bodies','Clinical group','no definition available'),('431272','X-linked scapuloperoneal muscular dystrophy','Disease','A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.'),('431320','Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder','Clinical group','A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.'),('431329','Autosomal recessive spastic paraplegia type 57','Disease','Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.'),('431341','Patent urachus','Morphological anomaly','Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.'),('431344','Urachal sinus','Morphological anomaly','Urachal sinus is a type of congenital urachal anomaly (see this term) resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.'),('431347','Urachal diverticulum','Morphological anomaly','Urachal diverticulum is the rarest type of congenital urachal anomaly (see this term) resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.'),('431353','Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis','Category','A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.'),('431361','Progressive encephalopathy with leukodystrophy due to DECR deficiency','Disease','Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.'),('432','Normosmic congenital hypogonadotropic hypogonadism','Clinical subtype','no definition available'),('43393','Lambert-Eaton myasthenic syndrome','Disease','Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).'),('434179','Orofaciodigital syndrome type 14','Malformation syndrome','Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.'),('434786','Rare genetic autonomic nervous system disorder','Category','no definition available'),('434809','Syndrome with woolly hair','Category','no definition available'),('435','OBSOLETE: Ito hypomelanosis','Disease','no definition available'),('435329','Familial ossifying fibroma','Disease','no definition available'),('435365','Fetal lower urinary tract obstruction','Clinical group','no definition available'),('435372','Anterior urethral valve','Morphological anomaly','no definition available'),('435387','Autosomal dominant Charcot-Marie-Tooth disease type 2Y','Disease','A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.'),('435438','Progressive myoclonic epilepsy type 7','Disease','A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.'),('435554','Genetic precocious puberty','Category','no definition available'),('435561','Precocious puberty in female','Category','no definition available'),('435564','Genetic precocious puberty in female','Category','no definition available'),('435603','Genetic otorhinolaryngological malformation','Category','no definition available'),('435606','Genetic nose and cavum anomaly','Category','no definition available'),('435609','Genetic larynx anomaly','Category','no definition available'),('435612','Genetic tracheal anomaly','Category','no definition available'),('435623','OBSOLETE: Adactyly of foot','Morphological anomaly','no definition available'),('435628','Keppen-Lubinsky syndrome','Malformation syndrome','A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.'),('435638','3p25.3 microdeletion syndrome','Malformation syndrome','3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.'),('435651','CIDEC-related familial partial lipodystrophy','Disease','A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.'),('435660','LIPE-related familial partial lipodystrophy','Disease','A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.'),('435743','Congenital urachal anomaly','Category','Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum (see these terms).'),('435804','Short stature-advanced bone age-early-onset osteoarthritis syndrome','Disease','A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.'),('435808','OBSOLETE: ACAN-related skeletal dysplasia','Clinical group','no definition available'),('435819','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation','Disease','A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.'),('435845','Lethal neonatal spasticity-epileptic encephalopathy syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.'),('435930','Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome','Disease','no definition available'),('435934','COG2-CDG','Disease','A rare, congenital disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.'),('435938','X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome','Malformation syndrome','X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.'),('435953','Progeroid features-hepatocellular carcinoma predisposition syndrome','Disease','no definition available'),('435988','Chronic atrial and intestinal dysrhythmia syndrome','Disease','no definition available'),('435998','Autosomal recessive intermediate Charcot-Marie-Tooth disease type D','Disease','Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.'),('436','Hypophosphatasia','Disease','A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.'),('436003','Contractures-developmental delay-Pierre Robin syndrome','Malformation syndrome','no definition available'),('436141','Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome','Malformation syndrome','no definition available'),('436144','Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome','Disease','no definition available'),('436151','Intellectual disability-expressive aphasia-facial dysmorphism syndrome','Disease','A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.'),('436159','Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency','Disease','A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.'),('436166','Periodic fever-infantile enterocolitis-autoinflammatory syndrome','Disease','no definition available'),('436169','Thrombomodulin-related bleeding disorder','Disease','no definition available'),('436174','Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome','Disease','no definition available'),('436182','Microcephalic primordial dwarfism-insulin resistance syndrome','Malformation syndrome','no definition available'),('436242','Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease','Disease','no definition available'),('436245','Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome','Disease','A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).'),('436252','Combined immunodeficiency-enteropathy spectrum','Disease','no definition available'),('436271','Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy','Disease','A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.'),('436274','Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa','Disease','A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.'),('437','Hypophosphatemic rickets','Clinical group','Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.'),('437552','Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity','Disease','A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Ebstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up.'),('437572','MYH7-related late-onset scapuloperoneal muscular dystrophy','Disease','no definition available'),('438072','Disorder of keton body transport','Category','no definition available'),('438075','Ketoacidosis due to monocarboxylate transporter-1 deficiency','Disease','no definition available'),('438114','RARS-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.'),('438117','Steel syndrome','Disease','no definition available'),('438134','PCNA-related progressive neurodegenerative photosensitivity syndrome','Disease','PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.'),('438159','STAT3-related early-onset multisystem autoimmune disease','Disease','A rare, genetic, lypmhoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variabe autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.'),('438178','Fatty acyl-CoA reductase 1 deficiency','Disease','A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.'),('438207','Severe autosomal recessive macrothrombocytopenia','Disease','no definition available'),('438213','PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome','Disease','A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.'),('438216','PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation','Etiological subtype','no definition available'),('438266','Progressive encephalomyelitis with rigidity and myoclonus','Clinical subtype','no definition available'),('438274','GCGR-related hyperglucagonemia','Disease','A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.'),('438279','Human infection by orthopoxvirus','Disease','A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.'),('439','Isolated right ventricular hypoplasia','Morphological anomaly','Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.'),('439167','Placental insufficiency','Clinical syndrome','no definition available'),('439175','Pediatric arterial ischemic stroke','Clinical syndrome','no definition available'),('439196','Zinc-responsive necrolytic acral erythema','Particular clinical situation in a disease or syndrome','no definition available'),('439202','Non-recovering obstetric brachial plexus lesion','Disease','A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities.'),('439212','Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome','Disease','no definition available'),('439218','KCNQ2-related epileptic encephalopathy','Disease','KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.'),('439224','ALECT2 amyloidosis','Disease','A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.'),('439232','AApoAIV amyloidosis','Disease','A rare, systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullar amyloid deposits.'),('439246','ABeta2M amyloidosis','Clinical group','no definition available'),('439254','ITM2B amyloidosis','Disease','A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.'),('439729','Cutaneous polyarteritis nodosa','Clinical subtype','Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.'),('439737','Primary polyarteritis nodosa','Clinical subtype','no definition available'),('439746','Secondary polyarteritis nodosa','Clinical subtype','Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN (see this term) characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).'),('439755','Single-organ polyarteritis nodosa','Clinical subtype','Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN; see this term), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN (see this term) and relapses appear to be more common.'),('439762','Systemic polyarteritis nodosa','Clinical subtype','Systemic polyarteritis nodosa (PAN; see this term) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.'),('439822','PDE4D haploinsufficiency syndrome','Malformation syndrome','PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.'),('439849','Autosomal recessive severe congenital neutropenia','Category','no definition available'),('439854','Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease','Disease','no definition available'),('439881','Plastic bronchitis','Particular clinical situation in a disease or syndrome','no definition available'),('439897','Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome','Malformation syndrome','Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.'),('44','Neonatal adrenoleukodystrophy','Disease','A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).'),('440','OBSOLETE: Familial hypospadias','Morphological anomaly','no definition available'),('440221','Congenital oculomotor nerve palsy','Disease','A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.'),('440233','Congenital abducens nerve palsy','Disease','no definition available'),('440354','Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome','Malformation syndrome','no definition available'),('440368','Necrotizing soft tissue infection','Disease','A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation.'),('440392','Interstitial lung disease due to SP-C deficiency','Disease','no definition available'),('440402','Interstitial lung disease due to ABCA3 deficiency','Disease','Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.'),('440427','Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency','Disease','A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.'),('440437','Familial colorectal cancer Type X','Disease','A rare, hereditary nonpolyposis colon cancer defined in individuals meeting the Amsterdam criteria for Lynch syndrome, but lacking germline mutations in the mismatch repair genes. It is characterized by a later onset, preferential involvement of distal colon and rectum, lower risk of developing extracolonic cancer, a higher adenoma/carcinoma ratio, a higher differentiation of tumor cells, a more heterogeneous tumor architecture and an infiltrative growth pattern, when compared to Lynch syndrome cases.'),('440701','Disorders of pentose/polyol metabolism','Category','no definition available'),('440706','Ribose-5-P isomerase deficiency','Disease','Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.'),('440713','Isolated sedoheptulokinase deficiency','Disease','A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythtirol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.'),('440724','Extensive peripapillary myelinated nerve fibers','Disease','A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus, or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.'),('440727','Combined hamartoma of the retina and retinal pigment epithelium','Disease','no definition available'),('440731','L-ferritin deficiency','Biological anomaly','no definition available'),('440987','Isolated agenesis of gallbladder','Morphological anomaly','no definition available'),('441','Pure autonomic failure','Disease','Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.'),('441344','OBSOLETE: Autosomal recessive optic atrophy, OPA9 type','Clinical subtype','no definition available'),('441434','Syndromic hereditary optic neuropathy','Category','no definition available'),('441447','Early-onset posterior subcapsular cataract','Clinical subtype','no definition available'),('441452','Early-onset lamellar cataract','Clinical subtype','no definition available'),('442','Congenital hypothyroidism','Category','Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.'),('442582','AH amyloidosis','Disease','A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.'),('442835','Undetermined early-onset epileptic encephalopathy','Disease','A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.'),('443057','Sporadic porphyria cutanea tarda','Clinical subtype','no definition available'),('443062','Familial porphyria cutanea tarda','Clinical subtype','no definition available'),('443070','Hemicrania continua','Disease','Hemicrania continua is a rare, indomethacin-responsive, trigeminal autonomic cephalgia characterized by a typically side-locked, continuous, unilateral headache of moderate intensity with recurrent episodes of exacerbations of severe intensity, lasting for more than 3 months, in the absence of structural brain or vascular lesions. Ipsilateral cranial autonomic symptoms (lacrimation, conjunctival injection, nasal congestion or rhinorrhea, ptosis/miosis), restlessness and/or migrainous features are observed during the exacerbations.'),('443073','Charcot-Marie-Tooth disease type 2S','Disease','A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.'),('443079','Central serous chorioretinopathy','Disease','A rare, acquired, choroidal disorder characterized by subretinal detachment in the macular área and leakage of fluid under the retina that accumulates under the central macula. Symptoms tend to include blurred or distorted vision (metamorphopsia), moderate dyschromatopsia, relative central scotoma, hypermetropization, micropsia and reduced contrast sensitivity. A blurred or gray spot in the central visual field is common when the retina is detached.'),('443084','Baroreflex failure','Clinical syndrome','A rare autonomic nervous system disorder characterized by diminished or absent buffering capability to prevent blood pressure from rising or falling excessively, due to abnormalities in the vascular baroreceptors, the glossopharyngeal or vagal nerves, or the brain stem. Typical clinical presentations are acute severe sustained hypertension, tachycardia, and headache, or volatile hypertension and tachycardia with headache, diaphoresis, flushing, and emotional instability. Rare cases rather present with hypotension, bradycardia, and dizziness or syncope.'),('443087','46,XY disorder of sex development due to testicular 17,20-desmolase deficiency','Disease','no definition available'),('443090','46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect','Category','no definition available'),('443095','Hyperinsulinemic hypoglycaemia','Category','no definition available'),('443098','Hyperostosis cranialis interna','Disease','no definition available'),('443101','Hypothalamic adipsic hypernatraemia syndrome','Disease','no definition available'),('443159','Lymphoplasmacytic lymphoma without IgM production','Disease','no definition available'),('443162','NDE1-related microhydranencephaly','Malformation syndrome','NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.'),('443167','NUT midline carcinoma','Disease','no definition available'),('443173','Postpartum psychosis','Disease','A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.'),('443180','Spontaneous intracranial hypotension','Disease','A rare headache resulting from a cerebrospinal fluid (CSF) leak with subsequent lowered CSF pressure, characterized clinically by severe headaches which typically worsen upon standing up and get better when lying down. Additional features may include neck stiffness, nausea, vomiting, vertigo, tinnitus, visual disturbances, and cognitive abnormalities, among others, as sagging and displacement of the brain can lead to a variety of lesions and symptoms.'),('443192','Classic stiff person syndrome','Clinical subtype','no definition available'),('443197','X-linked erythropoietic protoporphyria','Disease','no definition available'),('443227','Paratyphoid fever','Disease','A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection.'),('443236','Postural orthostatic tachycardia syndrome due to NET deficiency','Disease','A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.'),('443287','ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor','Category','no definition available'),('443291','HIV-associated cancer','Particular clinical situation in a disease or syndrome','no definition available'),('443301','OBSOLETE: HIV-related lung cancer','Disease','no definition available'),('443304','OBSOLETE: HIV-related oropharyngeal cancer','Disease','no definition available'),('443307','OBSOLETE: HIV-related anal cancer','Disease','no definition available'),('443310','OBSOLETE: HIV-related hepatocellular carcinoma','Disease','no definition available'),('443313','OBSOLETE: HIV-related penile cancer','Disease','no definition available'),('443316','OBSOLETE: HIV-related Hodgkin lymphoma','Disease','no definition available'),('443319','OBSOLETE: HIV-related vulvovaginal cancer','Disease','no definition available'),('443322','OBSOLETE: HIV-related cervical cancer','Disease','no definition available'),('443325','OBSOLETE: HIV-related Non-Hodgkin lymphoma','Disease','no definition available'),('443328','OBSOLETE: HIV-related Kaposi sarcoma','Disease','no definition available'),('443804','Focal stiff limb syndrome','Clinical subtype','no definition available'),('443811','PGM3-CDG','Disease','PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.'),('443909','Hereditary nonpolyposis colon cancer','Clinical group','A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.'),('443950','DNAJB2-related Charcot-Marie-Tooth disease type 2','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.'),('443988','Ventriculomegaly-cystic kidney disease','Disease','A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others.'),('443995','Mandibulofacial dysostosis with alopecia','Malformation syndrome','no definition available'),('444','Marie Unna hereditary hypotrichosis','Disease','A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.'),('444002','11q22.2q22.3 microdeletion syndrome','Malformation syndrome','11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.'),('444013','Combined oxidative phosphorylation defect type 23','Disease','no definition available'),('444048','46,XX ovarian dysgenesis-short stature syndrome','Disease','A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.'),('444051','20q11.2 microdeletion syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.'),('444069','Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome','Malformation syndrome','no definition available'),('444072','Cerebellar-facial-dental syndrome','Malformation syndrome','no definition available'),('444077','Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome','Malformation syndrome','no definition available'),('444092','Autoimmune interstitial lung disease-arthritis syndrome','Disease','no definition available'),('444099','Autosomal dominant spastic paraplegia type 73','Disease','A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.'),('444116','Hereditary amyloidosis','Category','no definition available'),('444138','Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome','Disease','no definition available'),('444316','Idiopathic phalangeal acro-osteolysis','Disease','no definition available'),('444458','Combined oxidative phosphorylation defect type 24','Disease','Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.'),('444463','Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome','Disease','no definition available'),('444490','Familial chylomicronemia syndrome','Disease','no definition available'),('444916','Pseudohypoaldosteronism','Clinical group','no definition available'),('444941','Caudal regression-sirenomelia spectrum','Clinical group','Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.'),('445018','Combined immunodeficiency due to LRBA deficiency','Disease','A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.'),('445038','3-methylglutaconic aciduria type 7','Disease','no definition available'),('445062','Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome','Disease','A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy.'),('445110','Limb-girdle muscular dystrophy due to POMK deficiency','Disease','Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.'),('445197','Secondary vasculitis','Category','no definition available'),('446','Neonatal hemochromatosis','Disease','Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.'),('447','Paroxysmal nocturnal hemoglobinuria','Disease','Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.'),('447731','NIK deficiency','Disease','A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation.'),('447737','DOCK2 deficiency','Disease','A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.'),('447740','Susceptibility to localized juvenile periodontitis','Disease','no definition available'),('447753','Autosomal dominant spastic paraplegia type 9A','Disease','A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.'),('447757','Autosomal dominant spastic paraplegia type 9B','Disease','A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal.'),('447760','Autosomal recessive spastic paraplegia type 9B','Disease','A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.'),('447764','IgG4-related sclerosing cholangitis','Disease','A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.'),('447771','Sclerosing cholangitis','Clinical group','no definition available'),('447774','Secondary sclerosing cholangitis','Disease','A rare, biliary tract disease characterized by development of sclerosing cholangitis due to a known primary insult to the biliary tree, including infections, autoimmune disease, exposure to toxic agents, obstructive and ischemic injuries. Patients may be initially asymptomatic with only elevated alkaline phosphatase and gamma glutamyltransferase levels. Later presentation includes abdominal pain, jaundice, pruritus, fever and bacterial cholangitis from ascending infection.'),('447777','Keratocystic odontogenic tumor','Disease','no definition available'),('447784','Mitochondrial pyruvate carrier deficiency','Disease','no definition available'),('447788','Cerebral visual impairment','Clinical syndrome','A rare neurologic disease characterized by significant visual dysfunction that cannot be explained by ocular abnormalities alone and is due to damage to post-chiasmatic visual pathways and structures during early perinatal development. Signs and symptoms include decreased visual acuity, visual field defects, and impairments in visual processing and attention.'),('447792','Hemochromatosis type 5','Disease','no definition available'),('447795','Lipoyl transferase 2 deficiency','Biological anomaly','no definition available'),('447874','Biological anomaly without phenotypic characterization','Category','no definition available'),('447877','Polymerase proofreading-related adenomatous polyposis','Clinical subtype','no definition available'),('447881','Idiopathic dropped head syndrome','Clinical syndrome','A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.'),('447893','Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome','Clinical subtype','no definition available'),('447896','Tremor-ataxia-central hypomyelination syndrome','Clinical subtype','no definition available'),('447954','Combined oxidative phosphorylation defect type 25','Disease','Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.'),('447961','Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome','Disease','no definition available'),('447964','Autosomal dominant Charcot-Marie-Tooth disease type 2V','Disease','A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.'),('447974','Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('447977','Progressive scapulohumeroperoneal distal myopathy','Disease','A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei.'),('447980','19p13.3 microduplication syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.'),('447985','Partial duplication of the short arm of chromosome 19','Category','no definition available'),('447997','Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome','Disease','A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.'),('448','Hemophilia','Clinical group','Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.'),('448010','CAD-CDG','Disease','CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.'),('448237','Zika virus disease','Disease','Zika virus disease is an emerging Aedes mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.'),('448242','Autosomal recessive brachyolmia','Malformation syndrome','Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.'),('448251','Progressive autosomal recessive ataxia-deafness syndrome','Disease','A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.'),('448264','Isolated focal non-epidermolytic palmoplantar keratoderma','Disease','no definition available'),('448267','Regressive spondylometaphyseal dysplasia','Malformation syndrome','Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.'),('448270','Ectopia cordis','Morphological anomaly','no definition available'),('448348','OBSOLETE: X-linked acrogigantism due to a point mutation','Etiological subtype','no definition available'),('448372','OBSOLETE: X-linked acrogigantism due to Xq26 microduplication','Etiological subtype','no definition available'),('448426','Genetic primary orthostatic hypotension','Category','no definition available'),('44890','Gastrointestinal stromal tumor','Disease','Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.'),('449','Hepatoblastoma','Disease','A malignant hepatic tumor, typically affecting the pediatric population, characterized by anorexia, weight loss and an enlarged abdomen. This disorder is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5 % of cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.'),('449262','NON RARE IN EUROPE: Primary bile acid malabsorption','Disease','no definition available'),('449266','Pleural empyema','Particular clinical situation in a disease or syndrome','no definition available'),('449280','Scedosporiosis','Disease','A rare mycosis caused by Scedosporium species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.'),('449285','Snakebite envenomation','Disease','no definition available'),('449291','Symptomatic form of fragile X syndrome in female carrier','Disease','no definition available'),('449395','IgG4-related kidney disease','Disease','A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, mass lesions, enlarged kidneys and hydronephrosis.'),('449400','IgG4-related aortitis','Disease','no definition available'),('449427','IgG4-related pachymeningitis','Disease','A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.'),('449432','IgG4-related submandibular gland disease','Disease','no definition available'),('449563','IgG4-related ophthalmic disease','Disease','A rare, inflammatory eye disease characterized by IgG4-immunopositive lymphocyte and plasmacyte infiltration and collagenous fibrosis of affected tissue and elevated serum levels of IgG4. Clinical presentation includes mass lesion or swelling of the involved structures, commonly involving lacrimal gland and duct, infraorbital and supraorbital nerves, extraocular muscles and orbital soft tissues. A systemic involvement is common.'),('449566','Eosinophilic angiocentric fibrosis','Disease','no definition available'),('45','Adenosine monophosphate deaminase deficiency','Disease','A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.'),('450','Heterotaxia','Category','Heterotaxia (coming from the Greek `heteros` meaning different and `taxis` meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located).'),('450322','Polyclonal hyperviscosity syndrome','Clinical syndrome','no definition available'),('451602','Primary cutaneous plasmacytosis','Disease','no definition available'),('451607','Cutaneous pseudolymphoma','Disease','no definition available'),('451612','Familial congenital nasolacrimal duct obstruction','Morphological anomaly','A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal draingage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.'),('452','X-linked lissencephaly with abnormal genitalia','Malformation syndrome','X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.'),('453','IBIDS syndrome','Disease','no definition available'),('453499','Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome','Malformation syndrome','no definition available'),('453504','Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation','Etiological subtype','no definition available'),('453510','Congenital insensitivity to pain with severe intellectual disability','Disease','Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.'),('453521','Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency','Disease','A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.'),('453533','Polyendocrine-polyneuropathy syndrome','Disease','no definition available'),('45358','Congenital fibrosis of extraocular muscles','Disease','no definition available'),('45360','NON RARE IN EUROPE: Menière disease','Disease','no definition available'),('454','Acquired ichthyosis','Disease','A rare epidermal disease characterized by rough, dry skin with prominent, plate-like scaling. It is non-hereditary and usually arises during adulthood in the context of a variety of diseases or conditions, like various types of cancer, autoimmune diseases, endocrine disorders, nutritional deficiencies, but also as a side effect of certain medications. Severity depends on the underlying disease or condition.'),('45448','Miyoshi myopathy','Disease','A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.'),('45452','Idiopathic neonatal atrial flutter','Disease','Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.'),('45453','Incessant infant ventricular tachycardia','Disease','Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.'),('454700','Acquired Creutzfeldt-Jakob disease','Clinical group','A group of human prion diseases characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of prions. The group comprises iatrogenic Creutzfeldt-Jakob disease (CJD), which results from transmission of CJD prions in the course of medical procedures or treatments, and variant CJD (transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual).'),('454706','Progressive muscular atrophy','Disease','A rare motor neuron disease characterized by isolated lower motor neuron features, including progressive flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.'),('454710','Anti-p200 pemphigoid','Disease','A rare, acquired, subepidermal autoimmune bullous disease characterized by polymorphic cutaneous lesions (blisters, urticarial lesions or scars/milia) associated with imunoglubulin G deposition in the basement membrane zone. Lesions are frequently localized on extremities, trunk, palmoplantar and cephalic areas as well as mucous membranes.'),('454714','Plasma cell leukemia','Disease','no definition available'),('454718','Holmes-Adie syndrome','Disease','no definition available'),('454723','Endometrioid carcinoma of ovary','Disease','no definition available'),('454742','Variably protease-sensitive prionopathy','Disease','A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.'),('454745','Kuru','Disease','A rare, acquired human prion disease characterized by rapidly progressive neurodegeneration, cerebellar symptoms (especially ataxia, but also tremor, dysarthria, and nystagmus) being the most prominent clinical feature, following an asymptomatic incubation period of up to several decades and a non-specific prodromal phase with headaches and arthralgia. Other neurological signs occurring in the course of the disease involve also the brain stem, mid-brain, hypothalamus, and cerebral cortex. Emotional changes include inappropriate euphoria and compulsive laughter, or depression and apprehension. The disease is invariably fatal within approximately one year.'),('454750','Isolated tracheoesophageal fistula','Morphological anomaly','no definition available'),('454821','Pleomorphic salivary gland adenoma','Histopathological subtype','no definition available'),('454831','Acute radiation syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('454836','Avian influenza','Disease','A rare, infectious disease characterized by variable severity and outcome, ranging from mild upper respiratory tract infection with fever and cough, to influenza-like illness with rapid progression to severe pneumonia, sepsis with shock, acute respiratory distress syndrome and even death. Additional manifestations may include conjunctivitis, nausea, abdominal pain, diarrhea, vomiting, multiple organ dysfunction, and encephalopathy.'),('454840','NTHL1-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('454872','OBSOLETE: Type 1 interferonopathy with immunodeficiency','Category','no definition available'),('454887','Corticobasal syndrome','Disease','A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.'),('455','Superficial epidermolytic ichthyosis','Disease','Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.'),('456298','1p35.2 microdeletion syndrome','Malformation syndrome','A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.'),('456312','Infantile multisystem neurologic-endocrine-pancreatic disease','Disease','no definition available'),('456318','Hereditary sensory neuropathy-deafness-dementia syndrome','Disease','A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.'),('456328','X-linked myotubular myopathy-abnormal genitalia syndrome','Disease','X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.'),('456333','Hereditary neuroendocrine tumor of small intestine','Disease','no definition available'),('456369','Polyglucosan body myopathy type 2','Disease','A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement.'),('457','Harlequin ichthyosis','Disease','Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.'),('457050','Autosomal dominant mitochondrial myopathy with exercise intolerance','Disease','A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.'),('457059','Pseudohypoparathyroidism with Albright hereditary osteodystrophy','Clinical group','no definition available'),('457062','Pseudohypoparathyroidism without Albright hereditary osteodystrophy','Clinical group','no definition available'),('457074','Congenital nemaline myopathy','Clinical group','no definition available'),('457077','TAFRO syndrome','Disease','no definition available'),('457083','Isolated splenogonadal fusion','Morphological anomaly','A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.'),('457088','Predisposition to invasive fungal disease due to CARD9 deficiency','Disease','A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.'),('457095','Actinomycosis','Disease','A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.'),('457185','Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome','Disease','A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia.'),('457193','Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome','Malformation syndrome','no definition available'),('457205','Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome','Disease','A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.'),('457212','Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome','Disease','no definition available'),('457223','Syndromic sensorineural deafness due to combined oxidative phosphorylation defect','Disease','no definition available'),('457240','X-linked intellectual disability-short stature-overweight syndrome','Malformation syndrome','X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.'),('457246','Clear cell sarcoma of kidney','Disease','Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.'),('457252','Squamous cell carcinoma of the oral tongue','Disease','no definition available'),('457260','X-linked intellectual disability-hypotonia-movement disorder syndrome','Disease','A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported.'),('457265','Progressive myoclonic epilepsy type 9','Disease','A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, venticulomegaly, interhemispheric cysts, and simplified gyration (frontally).'),('457279','Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome','Malformation syndrome','A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.'),('457284','Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('457351','Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome','Malformation syndrome','no definition available'),('457359','Megalencephaly-severe kyphoscoliosis-overgrowth syndrome','Malformation syndrome','no definition available'),('457365','Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('457375','ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement','Disease','A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.'),('457378','Complex lethal osteochondrodysplasia','Malformation syndrome','A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.'),('457395','Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome','Malformation syndrome','no definition available'),('457406','Multiple mitochondrial dysfunctions syndrome type 4','Disease','A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.'),('457485','Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.'),('458713','NON RARE IN EUROPE: Specific language impairment','Disease','no definition available'),('458718','Idiopathic spontaneous coronary artery dissection','Disease','no definition available'),('458758','Composite hemangioendothelioma','Disease','A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare.'),('458763','Retiform hemangioendothelioma','Disease','A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.'),('458768','Primary intralymphatic angioendothelioma','Disease','A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults.'),('458775','Congenital hemangioma','Clinical group','no definition available'),('458785','Partially involuting congenital hemangioma','Disease','A rare congenital hemangioma characterized by a superficial, red to violaceous lesion with overlying telangiectasia and a surrounding pale halo, which initially behaves like a rapidly involuting congenital hemangioma, beginning to involute shortly after birth. Involution is then aborted, and a residual tumor virtually indistinguishable from non-involuting congenital hemangioma remains. This lesion grows proportionally with the child and does not regress.'),('458792','Mixed cystic lymphatic malformation','Malformation syndrome','A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Mixed cystic lesions consist of cysts both larger (macrocystic) and smaller (microcystic) than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.'),('458798','Spinocerebellar ataxia type 41','Disease','Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.'),('458803','Spinocerebellar ataxia type 42','Disease','Spinocerebellar ataxia type 42 is a rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.'),('458827','Vascular tumor with associated anomalies','Category','no definition available'),('458830','Rare capillary malformation with associated anomalies','Category','no definition available'),('458833','Common cystic lymphatic malformation','Clinical group','no definition available'),('458837','Rare combined vascular malformation','Clinical group','no definition available'),('458841','OBSOLETE: Primary lymphedema with associated anomalies','Category','no definition available'),('458844','Rare vascular malformation of major vessels','Category','no definition available'),('459033','Ataxia-oculomotor apraxia type 4','Disease','A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.'),('459051','Spondyloepiphyseal dysplasia, Stanescu type','Disease','no definition available'),('459056','Autosomal recessive spastic paraplegia type 75','Disease','Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.'),('459061','Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.'),('459070','X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome','Malformation syndrome','no definition available'),('459074','Corpus callosum agenesis-macrocephaly-hypertelorism syndrome','Malformation syndrome','no definition available'),('459345','Immunodeficiency due to a complement cascade component deficiency','Category','no definition available'),('459348','Immunodeficiency due to a complement regulatory deficiency','Category','no definition available'),('459353','C1 inhibitor deficiency','Disease','no definition available'),('459526','Rare genetic capillary malformation','Category','no definition available'),('459530','OBSOLETE: Genetic primary lymphedema','Category','no definition available'),('459537','Genetic complex vascular malformation with associated anomalies','Category','no definition available'),('459543','Rare genetic vascular tumor','Category','no definition available'),('459548','Rare genetic venous malformation','Category','no definition available'),('459690','NON RARE IN EUROPE: Gender dysphoria','Disease','no definition available'),('459696','NON RARE IN EUROPE: Juvenile idiopathic scoliosis','Morphological anomaly','no definition available'),('459787','Lethal multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('46','Adenylosuccinate lyase deficiency','Disease','A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.'),('46059','Lathosterolosis','Disease','Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.'),('461','Recessive X-linked ichthyosis','Disease','Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.'),('46135','Primary central nervous system lymphoma','Disease','Primary central nervous system lymphoma (PCNSL) is a rare nervous system tumor, predominantly due to diffuse large B-cell lymphoma, that involves brain, leptomeninges, eyes, or rarely spinal cord, in the absence of systemic diffusion at the time of diagnosis. It is characterized by a solitary tumor that, depending on its location, can lead to a variety of symptoms such as headache, nausea, vomiting (and other signs of raised intracranial pressure), focal neurologic deficits, neuropsychiatric and ocular symptoms, seizures and personality changes.'),('462','NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris','Disease','no definition available'),('463','NON RARE IN EUROPE: Adrenal incidentaloma','Disease','no definition available'),('46348','Paroxysmal extreme pain disorder','Disease','A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.'),('464','Incontinentia pigmenti','Malformation syndrome','An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko`s lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.'),('464282','Spastic paraplegia-severe developmental delay-epilepsy syndrome','Disease','Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.'),('464288','Short stature-brachydactyly-obesity-global developmental delay syndrome','Malformation syndrome','no definition available'),('464293','NON RARE IN EUROPE: Infantile capillary hemangioma','Disease','no definition available'),('464306','DYRK1A-related intellectual disability syndrome','Malformation syndrome','no definition available'),('464311','Intellectual disability syndrome due to a DYRK1A point mutation','Clinical subtype','no definition available'),('464318','Verrucous hemangioma','Disease','no definition available'),('464321','Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome','Disease','no definition available'),('464329','Kaposiform lymphangiomatosis','Disease','A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.'),('464336','BENTA disease','Disease','no definition available'),('464343','Catastrophic antiphospholipid syndrome','Disease','no definition available'),('464359','Benign metanephric tumour','Disease','no definition available'),('464366','NEK9-related lethal skeletal dysplasia','Malformation syndrome','NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.'),('464370','Neonatal alloimmune neutropenia','Disease','A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.'),('464440','Primary dystonia, DYT27 type','Disease','A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.'),('464443','COG6-CGD','Disease','no definition available'),('464453','Acquired methemoglobinemia','Disease','A rare hematologic disease characterized by increased levels of methemoglobin in the blood due to exposure to oxidizing agents like nitrates or nitrites, a variety of medications (most commonly local anesthetics), or aniline dyes, among others. Clinical manifestations include cyanosis, dizziness, headache, dyspnea, confusion, and coma. The severity of symptoms ranges from mild to life-threatening, depending on the percentage of methemoglobin.'),('464458','Paracetamol poisoning','Particular clinical situation in a disease or syndrome','no definition available'),('464463','NON RARE IN EUROPE: Adenocarcinoma of stomach','Disease','no definition available'),('464682','OBSOLETE: Disorder with acute infantile liver failure','Clinical group','no definition available'),('464724','Fever-associated acute infantile liver failure syndrome','Disease','no definition available'),('464738','Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome','Malformation syndrome','no definition available'),('464756','Familial gastric type 1 neuroendocrine tumor','Disease','no definition available'),('464760','Familial cavitary optic disc anomaly','Morphological anomaly','no definition available'),('464764','Immune-mediated acquired neuromuscular junction disease','Clinical group','no definition available'),('46484','Oligodendroglial tumor','Clinical group','Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).'),('46485','Superficial pemphigus','Clinical group','A rare, autoimmune, bullous skin disease characterized clinically by multiple flaccid blisters, typically occurring on the face, scalp, trunk and extremities, which rapidly evolve into scaly, crusted, pruritic skin erosions. Histopathologically, superficial acantolytic blisters, as well as intercellular deposits of IgG autoantibodies directed against desmoglein 1 (and occasionally against desmoglein 3) in the upper epidermis, are observed.'),('46486','Mucous membrane pemphigoid','Disease','A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.'),('46487','Epidermolysis bullosa acquisita','Disease','A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient`s serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.'),('46488','Linear IgA dermatosis','Disease','A rare, acquired autoimmune bullous skin disease characterized by annular, grouped blisters on the skin and, frequently, mucous membranes with linear deposition of immunoglobulin A along the basement membrane zone (BMZ).'),('46489','OBSOLETE: Bullous systemic lupus erythematosus','Disease','no definition available'),('465','Congenital plasminogen activator inhibitor type 1 deficiency','Disease','A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.'),('46532','Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome','Disease','Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.'); +INSERT INTO `Disease` VALUES ('465508','Symptomatic form of hemochromatosis type 1','Disease','Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.'),('465824','Fetal encasement syndrome','Malformation syndrome','Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.'),('466','Fatal familial insomnia','Disease','Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.'),('466026','Class I glucose-6-phosphate dehydrogenase deficiency','Disease','no definition available'),('466066','Genetic hemoglobinopathy','Category','no definition available'),('466084','Genetic otorhinolaryngologic disease','Category','no definition available'),('46627','Char syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).'),('46658','Primordial short stature-microdontia-opalescent and rootless teeth syndrome','Malformation syndrome','no definition available'),('466650','Exercise-induced malignant hyperthermia','Disease','A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.'),('466658','Rare disease with malignant hyperthermia','Category','no definition available'),('466667','NON RARE IN EUROPE: Colorectal cancer','Disease','no definition available'),('466670','Cyanide poisoning','Particular clinical situation in a disease or syndrome','no definition available'),('466673','NON RARE IN EUROPE: Post-herpetic neuralgia','Particular clinical situation in a disease or syndrome','no definition available'),('466677','Scorpion envenomation','Disease','Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.'),('466682','Euthyroid Graves orbitopathy','Disease','no definition available'),('466688','Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia.'),('466695','Supratip dysplasia','Morphological anomaly','Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.'),('466703','TMEM199-CDG','Disease','no definition available'),('466718','Martinique crinkled retinal pigment epitheliopathy','Disease','A rare, genetic retinal disease characterized by characteristic \"dried-out soil\" fundus pattern due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated, and Bruch`s membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularization or atrophic fibrous macular scarring that can lead to reduced visual acuity over time.'),('466722','Autosomal recessive spastic paraplegia type 77','Disease','Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.'),('466729','Familial patent arterial duct','Morphological anomaly','Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.'),('466732','OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome','Malformation syndrome','no definition available'),('466768','Autosomal dominant Charcot-Marie-Tooth disease type 2Z','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.'),('466775','Autosomal recessive Charcot-Marie-Tooth disease type 2X','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.'),('466784','Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect','Disease','no definition available'),('466791','Macrocephaly-intellectual disability-left ventricular non compaction syndrome','Malformation syndrome','Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.'),('466794','Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.'),('466801','LIMS2-related limb-girdle muscular dystrophy','Disease','A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.'),('466806','Autosomal dominant thrombocytopenia with platelet secretion defect','Disease','A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.'),('466921','Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome','Disease','A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.'),('466926','Seizures-scoliosis-macrocephaly syndrome','Disease','Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.'),('466934','VPS11-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.'),('466943','WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.'),('466950','Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation','Clinical subtype','no definition available'),('466962','SMARCA4-deficient sarcoma of thorax','Disease','no definition available'),('467','Non-acquired combined pituitary hormone deficiency','Category','Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.'),('467166','Tubulinopathy-associated dysgyria','Disease','no definition available'),('467176','Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome','Disease','Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.'),('46724','Cerebral arteriovenous malformation','Morphological anomaly','Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.'),('468620','Intellectual disability-epilepsy-extrapyramidal syndrome','Disease','A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.'),('468631','Microcephalic primordial dwarfism due to RTTN deficiency','Malformation syndrome','Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.'),('468635','Cryptogenic multifocal ulcerous stenosing enteritis','Disease','no definition available'),('468641','Chronic enteropathy associated with SLCO2A1 gene','Disease','no definition available'),('468661','Autosomal recessive spastic paraplegia type 74','Disease','Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.'),('468666','Isolated generalized anhidrosis with normal sweat glands','Disease','no definition available'),('468672','Colobomatous macrophthalmia-microcornea syndrome','Disease','no definition available'),('468678','Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome','Disease','Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).'),('468684','CCDC115-CDG','Disease','no definition available'),('468699','SLC39A8-CDG','Disease','no definition available'),('468717','Rhizomelic chondrodysplasia punctata type 5','Etiological subtype','no definition available'),('468726','Severe primary trimethylaminuria','Disease','no definition available'),('469','Hereditary fructose intolerance','Disease','Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.'),('47','X-linked agammaglobulinemia','Clinical subtype','A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.'),('470','Lysinuric protein intolerance','Disease','Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.'),('47044','Hereditary papillary renal cell carcinoma','Disease','Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.'),('47045','Familial cold urticaria','Disease','Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.'),('471383','Genetic lethal multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('47159','Proximal renal tubular acidosis','Disease','Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.'),('472','Isosporiasis','Disease','Isosporiasis (also known as cystoisosporiasis) is an exclusively human parasitosis occurring mainly in the tropics and subtropics, due to infection with Isospora belli (through ingestion of contaminated food), that is frequently asymptomatic or that can cause fever and diarrhea, but that is usually a self-limiting condition in the immunocompetent. HIV-positive individuals are particularly at risk of suffering from symptomatic isosporiasis and can manifest with a more severe clinical course of chronic diarrhea and severe weight loss.'),('474','Jeune syndrome','Malformation syndrome','Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including `trident` aspect of the acetabula and metaphyseal changes.'),('474347','Rare congenital anomaly of ventricular septum','Clinical group','no definition available'),('475','Joubert syndrome','Malformation syndrome','Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.'),('476084','BVES-related limb-girdle muscular dystrophy','Disease','A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.'),('476093','Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome','Disease','A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.'),('476096','Erythrokeratodermia-cardiomyopathy syndrome','Disease','Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.'),('476102','Hereditary pediatric Behçet-like disease','Disease','no definition available'),('476109','Axonal hereditary motor and sensory neuropathy','Clinical group','no definition available'),('476113','Combined immunodeficiency due to TFRC deficiency','Disease','no definition available'),('476116','Demyelinating hereditary motor and sensory neuropathy','Clinical group','no definition available'),('476119','Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome','Malformation syndrome','no definition available'),('47612','Felty syndrome','Disease','Felty syndrome (FS), also known as ``super rheumatoid`` disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.'),('476123','Intermediate Charcot-Marie-Tooth disease','Clinical group','no definition available'),('476126','Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome','Malformation syndrome','no definition available'),('476394','PMP2-related Charcot-Marie-Tooth disease type 1','Disease','A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.'),('476403','Hypercontractile muscle stiffness syndrome','Clinical group','no definition available'),('476406','Congenital generalized hypercontractile muscle stiffness syndrome','Disease','A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.'),('477','KID syndrome','Disease','A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.'),('477647','Type 1 interferonopathy','Category','no definition available'),('477650','Fibroblastic rheumatism','Disease','no definition available'),('477661','IL21-related infantile inflammatory bowel disease','Disease','no definition available'),('477668','OBSOLETE: Aymé-Gripp syndrome','Malformation syndrome','no definition available'),('477673','Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome','Disease','A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.'),('477684','Combined oxidative phosphorylation defect type 26','Disease','no definition available'),('477697','OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome','Disease','no definition available'),('477738','Pediatric multiple sclerosis','Disease','Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.'),('477742','Nodular fasciitis','Disease','no definition available'),('477749','Pontine autosomal dominant microangiopathy with leukoencephalopathy','Disease','no definition available'),('477754','Genetic cerebral small vessel disease','Category','no definition available'),('477759','COL4A1 or COL4A2-related cerebral small vessel disease','Category','no definition available'),('477762','COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy','Clinical group','no definition available'),('477765','COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy','Clinical group','no definition available'),('477768','Moyamoya angiopathy','Clinical group','no definition available'),('477771','Rare disorder with a moyamoya angiopathy','Category','no definition available'),('477774','Combined oxidative phosphorylation defect type 27','Disease','no definition available'),('477781','Primary condylar hyperplasia','Disease','no definition available'),('477787','Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder','Disease','no definition available'),('477794','Syndromic constitutional thrombocytopenia','Category','no definition available'),('477797','Isolated constitutional thrombocytopenia','Category','no definition available'),('477805','Genetic cardiac malformation','Category','no definition available'),('477808','Other genetic dermis disorder','Category','no definition available'),('477811','Rare hypercholesterolemia','Category','no definition available'),('477814','Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome','Malformation syndrome','Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.'),('477817','PMP22-RAI1 contiguous gene duplication syndrome','Malformation syndrome','no definition available'),('477831','Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome','Malformation syndrome','no definition available'),('477857','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency','Disease','no definition available'),('477993','Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome','Malformation syndrome','Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.'),('478','Kallmann syndrome','Clinical subtype','Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).'),('478029','Combined oxidative phosphorylation defect type 29','Disease','no definition available'),('478042','Combined oxidative phosphorylation defect type 30','Disease','no definition available'),('478049','Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome','Disease','Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.'),('478664','Hereditary sensory and autonomic neuropathy type 8','Disease','A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.'),('48','Congenital bilateral absence of vas deferens','Morphological anomaly','Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.'),('480','Kearns-Sayre syndrome','Disease','A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.'),('480476','Progressive familial intrahepatic cholestasis type 5','Clinical subtype','no definition available'),('480483','Progressive familial intrahepatic cholestasis type 4','Clinical subtype','no definition available'),('480491','MYO5B-related progressive familial intrahepatic cholestasis','Clinical subtype','no definition available'),('480501','Choledochal cyst','Morphological anomaly','no definition available'),('480506','Primary intrahepatic lithiasis','Disease','no definition available'),('480512','Idiopathic ductopenia','Disease','no definition available'),('480520','Caroli syndrome','Malformation syndrome','no definition available'),('480524','Idiopathic peliosis hepatis','Disease','no definition available'),('480528','Lethal hydranencephaly-diaphragmatic hernia syndrome','Malformation syndrome','Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.'),('480531','Congenital portosystemic shunt','Morphological anomaly','Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.'),('480536','MSH3-related attenuated familial adenomatous polyposis','Clinical subtype','no definition available'),('480541','High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement','Disease','no definition available'),('480549','Non-severe combined immunodeficiency','Category','no definition available'),('480553','Aneurysmal bone cyst','Disease','no definition available'),('480556','Isolated neonatal sclerosing cholangitis','Disease','Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.'),('480682','POGLUT1-related limb-girdle muscular dystrophy R21','Disease','A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.'),('480701','Facial diplegia with paresthesias','Disease','A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described.'),('480773','OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome','Malformation syndrome','no definition available'),('480851','Hereditary thrombocytopenia with early-onset myelofibrosis','Disease','no definition available'),('480864','Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome','Disease','Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.'),('480880','X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability','Malformation syndrome','no definition available'),('480898','Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome','Disease','Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).'),('480907','X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome','Malformation syndrome','no definition available'),('481','Kennedy disease','Disease','Kennedy`s disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.'),('48104','Pyoderma gangrenosum','Disease','Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.'),('481152','PYCR2-related microcephaly-progressive leukoencephalopathy','Malformation syndrome','PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.'),('481469','OBSOLETE: Gastric neuroendocrine tumor type 1','Clinical subtype','no definition available'),('481475','OBSOLETE: Gastric neuroendocrine tumor type 2','Clinical subtype','no definition available'),('481478','OBSOLETE: Gastric neuroendocrine tumor type 3','Clinical subtype','no definition available'),('481481','OBSOLETE: Gastric neuroendocrine tumor type 4','Clinical subtype','no definition available'),('481508','Gastroenteric neuroendocrine neoplasm','Category','no definition available'),('48162','Lewis-Sumner syndrome','Clinical subtype','Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.'),('481662','Familial Chilblain lupus','Disease','no definition available'),('481665','USP18 deficiency','Disease','A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.'),('481671','Type 1 interferonopathy of childhood','Category','no definition available'),('481771','Genetic alopecia','Category','no definition available'),('481986','Familial schizencephaly','Etiological subtype','no definition available'),('482','Kimura disease','Disease','Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.'),('482072','HTRA1-related cerebral small vessel disease','Clinical group','no definition available'),('482077','HTRA1-related autosomal dominant cerebral small vessel disease','Disease','A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosus, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.'),('482092','Rare idiopathic macular telangiectasia','Category','no definition available'),('482601','Adenylosuccinate synthetase-like 1-related distal myopathy','Disease','A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.'),('482606','X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome','Malformation syndrome','no definition available'),('483','Congenital high-molecular-weight kininogen deficiency','Disease','no definition available'),('48372','Nodular regenerative hyperplasia of the liver','Disease','Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.'),('48377','Subcorneal pustular dermatosis','Disease','Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.'),('484','NON RARE IN EUROPE: Klinefelter syndrome','Malformation syndrome','no definition available'),('48431','Congenital cataracts-facial dysmorphism-neuropathy syndrome','Malformation syndrome','Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.'),('48435','Postinfectious vasculitis','Disease','Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.'),('48471','Lissencephaly','Category','The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.'),('485','Kniest dysplasia','Disease','Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).'),('485275','Acquired schizencephaly','Etiological subtype','no definition available'),('485350','CLCN4-related X-linked intellectual disability syndrome','Malformation syndrome','A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.'),('485358','Propylthiouracil embryofetopathy','Malformation syndrome','Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).'),('485382','Genetic non-acquired premature ovarian failure','Category','no definition available'),('485405','16p12.1p12.3 triplication syndrome','Malformation syndrome','16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.'),('485418','EMILIN-1-related connective tissue disease','Disease','A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.'),('485421','MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect','Etiological subtype','no definition available'),('485426','Isolated congenital hepatic fibrosis','Disease','no definition available'),('485631','Congenital bile acid synthesis defect','Clinical group','no definition available'),('486','Autosomal dominant severe congenital neutropenia','Disease','A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.'),('48652','Monosomy 22q13.3','Malformation syndrome','Monosomy 22q13.3 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.'),('486811','Prenatal-onset spinal muscular atrophy with congenital bone fractures','Disease','A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.'),('486815','Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome','Disease','no definition available'),('48686','Primary effusion lymphoma','Disease','Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).'),('486955','Rare pediatric rheumatologic disease','Category','no definition available'),('487','Krabbe disease','Disease','Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.'),('48736','Embryonal carcinoma of the central nervous system','Clinical subtype','no definition available'),('487796','Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome','Malformation syndrome','no definition available'),('487809','Pediatric collagenous gastritis','Disease','no definition available'),('487814','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.'),('487825','Pierpont syndrome','Malformation syndrome','Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.'),('488','Urachal cyst','Morphological anomaly','Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.'),('488168','Microcephaly-congenital cataract-psoriasiform dermatitis syndrome','Malformation syndrome','no definition available'),('48818','Aceruloplasminemia','Disease','A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.'),('488191','Female infertility due to oocyte meiotic arrest','Disease','no definition available'),('488197','Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome','Disease','A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.'),('488201','NON RARE IN EUROPE: Non-small cell lung cancer','Disease','no definition available'),('488232','Split-foot malformation-mesoaxial polydactyly syndrome','Malformation syndrome','no definition available'),('488239','Acute macular neuroretinopathy','Disease','A rare, acquired retinal disorder characterised by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petalloid or tear-drop configuration. Patients tend to be young, Caucasian, and female.'),('488265','Osteofibrous dysplasia','Disease','Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.'),('488280','14q32 duplication syndrome','Disease','14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.'),('488333','Autosomal dominant Charcot-Marie-Tooth disease type 2W','Disease','A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.'),('488434','Camptodactyly syndrome, Guadalajara type 3','Malformation syndrome','Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.'),('488437','SIX2-related frontonasal dysplasia','Malformation syndrome','no definition available'),('488586','Congenital amyoplasia','Malformation syndrome','no definition available'),('488594','Autosomal recessive spastic paraplegia type 76','Disease','Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.'),('488613','Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.'),('488618','Transketolase deficiency','Malformation syndrome','no definition available'),('488627','Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome','Malformation syndrome','no definition available'),('488632','TBCK-related intellectual disability syndrome','Malformation syndrome','TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.'),('488635','Early-onset epilepsy-intellectual disability-brain anomalies syndrome','Disease','A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.'),('488642','TELO2-related intellectual disability-neurodevelopmental disorder','Malformation syndrome','no definition available'),('488647','DDX41-related hematologic malignancy predisposition syndrome','Disease','no definition available'),('488650','Distal myopathy, Tateyama type','Disease','Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.'),('489','NON RARE IN EUROPE: Thyroglossal duct cyst','Morphological anomaly','no definition available'),('48918','Focal myositis','Disease','A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.'),('49','Penile agenesis','Morphological anomaly','Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.'),('490','Omphalomesenteric cyst','Morphological anomaly','A rare non-syndromic diaphragmatic or abdominal wall malformation, a remnant of omphalomesenteric duct, characterized by cuboidal or columnar epithelium with gastrointestinal differentiation. Patients may be asymptomatic or present with infraumbilical mass, umbilical lesion with secretions, abdominal pain, hernia, abscess, gastrointestinal tract bleeding, intestinal obstruction, and acute abdomen.'),('49041','IgG4-related retroperitoneal fibrosis','Disease','Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.'),('49042','Dentinogenesis imperfecta','Disease','Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.'),('492','Proliferating trichilemmal cyst','Disease','A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.'),('493','Familial keratoacanthoma','Disease','Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma (see these terms), such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions .Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.'),('493342','Vibratory urticaria','Disease','Vibratory urticaria is a rare, genetic urticaria characterized by the development of localized, short-lasting (resolving within 1 hour), pruritic, erythematous, edematous hives in response to repetitive frictional or vibratory stimulation of the skin, which in some cases is accompanied by facial flushing, headache or the sensation of a metallic taste. Concomitant local mast cell degranulation and increased histamine serum levels are additional typical findings.'),('493348','Vibratory angioedema','Disease','Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.'),('49382','Achromatopsia','Disease','A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.'),('494','Keratoderma hereditarium mutilans','Disease','Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.'),('494344','RERE-related neurodevelopmental syndrome','Malformation syndrome','no definition available'),('494348','Early-onset familial noncirrhotic portal hypertension','Disease','no definition available'),('494418','Vulvar carcinoma','Disease','no definition available'),('494421','Sacrococcygeal teratoma','Clinical subtype','no definition available'),('494424','Extracranial carotid artery aneurysm','Morphological anomaly','no definition available'),('494428','Idiopathic pleuroparenchymal fibroelastosis','Disease','no definition available'),('494433','MIRAGE syndrome','Disease','no definition available'),('494439','Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('494444','DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome','Disease','no definition available'),('494448','Vulvar squamous cell carcinoma','Histopathological subtype','no definition available'),('494451','Vulvar basal cell carcinoma','Histopathological subtype','no definition available'),('494454','Vulvar adenocarcinoma','Histopathological subtype','no definition available'),('494457','Rare hyperkinetic movement disorder','Category','no definition available'),('494526','Infantile-onset generalized dyskinesia with orofacial involvement','Disease','A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.'),('494541','Childhood-onset benign chorea with striatal involvement','Disease','A rare genetic hyperkinetic movement disorder characterized predominantly by chorea of variable severity, associated with bilateral striatal abnormalities on cerebral MRI. The disease is scarcely progressive, and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported.'),('494547','Squamous cell carcinoma of the hypopharynx','Disease','no definition available'),('494550','Squamous cell carcinoma of the larynx','Disease','no definition available'),('495','Transgrediens et progrediens palmoplantar keratoderma','Disease','A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles` tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.'),('495274','Charcot-Marie-Tooth disease type 2T','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.'),('49566','Acquired purpura fulminans','Disease','Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.'),('495818','9q33.3q34.11 microdeletion syndrome','Malformation syndrome','no definition available'),('495844','C11ORF73-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.'),('495875','Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('495879','Congenital agenesis of the scrotum','Morphological anomaly','no definition available'),('495930','Familial monosomy 7 syndrome','Disease','no definition available'),('496','Thost-Unna palmoplantar keratoderma','Disease','no definition available'),('496641','Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome','Malformation syndrome','A rare genetic neurodegenerative disease characterized by early-onset diffuse brain atrophy, growth failure with postnatal microcephaly, developmental delay, regression, profound intellectual disability, hypotonia, muscle weakness and atrophy, intractable seizures, spasticity, and optic atrophy. Patients are usually immobile and often require mechanical ventilation. Brain imaging shows cerebral and cerebellar atrophy, hypomyelination, and thin corpus callosum.'),('496686','Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome','Disease','no definition available'),('496689','Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome','Disease','no definition available'),('496693','Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome','Malformation syndrome','no definition available'),('496751','EVEN-plus syndrome','Malformation syndrome','no definition available'),('496756','Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome','Disease','A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life.'),('496790','Ocular anomalies-axonal neuropathy-developmental delay syndrome','Disease','A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.'),('496916','Rare genetic hyperkinetic movement disorder','Category','no definition available'),('496924','Non-inflammatory vasculopathy','Category','no definition available'),('497188','Diffuse intrinsic pontine glioma','Disease','A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.'),('497623','C12ORF65-related combined oxidative phosphorylation defect','Clinical group','no definition available'),('497737','Epidermolytic nevus','Disease','no definition available'),('497757','MME-related autosomal dominant Charcot Marie Tooth disease type 2','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.'),('497764','Spinocerebellar ataxia type 43','Disease','Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.'),('497906','Childhood-onset basal ganglia degeneration syndrome','Disease','A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.'),('498','Keratosis pilaris atrophicans','Clinical group','no definition available'),('49804','Lichen amyloidosis','Disease','Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.'),('498228','Phyllodes tumor of the prostate','Disease','no definition available'),('498251','Menstrual cycle-dependent periodic fever','Disease','A rare anomaly of puberty or/and menstrual cycle characterized by recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.'),('49827','Thiamine-responsive megaloblastic anemia syndrome','Disease','Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.'),('498345','Biliary atresia and associated disorders','Category','no definition available'),('498350','Syndromic biliary atresia','Clinical group','no definition available'),('498359','Aquagenic palmoplantar keratoderma','Disease','no definition available'),('498445','Genetic inflammatory or rheumatoid-like osteoarthropathy','Category','no definition available'),('498448','Overgrowth or tall stature syndrome with skeletal involvement','Category','no definition available'),('498451','Dysostosis with brachydactyly without extraskeletal manifestations','Category','no definition available'),('498454','Dysostosis with brachydactyly with extraskeletal manifestations','Category','no definition available'),('498457','Longitudinal limb defect','Category','no definition available'),('498461','Terminal transverse limb defect','Category','no definition available'),('498464','Non-syndromic preaxial polydactyly','Category','no definition available'),('498467','Non-syndromic postaxial polydactyly','Category','no definition available'),('498470','Non-syndromic complex polydactyly','Category','no definition available'),('498474','Hyaline fibromatosis syndrome','Disease','no definition available'),('498477','Ectrodactyly with and without other manifestations','Category','no definition available'),('498481','LRP5-related primary osteoporosis','Malformation syndrome','no definition available'),('498485','Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome','Malformation syndrome','no definition available'),('498488','Overgrowth syndrome with 2q37 translocation','Malformation syndrome','no definition available'),('498491','Complete hemimelia','Category','no definition available'),('498494','Mirror-image polydactyly','Morphological anomaly','no definition available'),('498497','Short rib-polydactyly syndrome type 5','Malformation syndrome','no definition available'),('498602','Sugarman brachydactyly','Morphological anomaly','Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.'),('498693','MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome','Disease','no definition available'),('498700','Limbic encephalitis with neurexin-3 antibodies','Disease','A rare non-paraneoplastic limbic encephalitis characterized by a severe but potentially treatable autoimmune encephalitis associated with autoantibodies against neurexin-3alpha. Patients present with prodromal fever, headache, or gastrointestinal symptoms, followed by rapid progression to confusion, seizures, and decreased level of consciousness. Mild orofacial dyskinesia, as well as life-threatening complications like central hypoventilation requiring respiratory support may develop in some patients.'),('499','Kerion celsi','Disease','A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.'),('499004','Tuberculous meningitis','Disease','A rare bacterial infectious disease caused by Mycobacterium tuberculosis, characterized by a variable clinical picture comprising classic manifestations of meningitis, i. e. headache, fever, and stiff neck, in addition to cranial nerve palsies (most commonly III, VI, and VII), altered mental status, and seizures, among others. Basal meningeal enhancement in neuroimaging, cerebrospinal fluid abnormalities (moderate lymphocytic pleocytosis, moderately elevated protein concentration, low glucose), and a chest x-ray suggestive of pulmonary tuberculosis may support the diagnosis.'),('499009','Congenital syphilis','Disease','A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson`s triad of Hutchinson`s teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.'),('499047','Autoimmune/inflammatory optic neuropathy','Clinical group','no definition available'),('499085','Chronic relapsing inflammatory optic neuropathy','Disease','no definition available'),('499096','Isolated optic neuritis','Disease','no definition available'),('499103','Recurrent idiopathic neuroretinitis','Disease','no definition available'),('499107','Idiopathic optic perineuritis','Disease','no definition available'),('499182','Pilomatrix carcinoma','Disease','no definition available'),('5','Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency','Disease','A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.'),('50','Aicardi syndrome','Disease','A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.'),('500','Noonan syndrome with multiple lentigines','Malformation syndrome','A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.'),('500055','16p13.2 microdeletion syndrome','Malformation syndrome','A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.'),('500062','Infantile-onset periodic fever-panniculitis-dermatosis syndrome','Disease','no definition available'),('500095','Tall stature-intellectual disability-renal anomalies syndrome','Malformation syndrome','no definition available'),('500135','Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome','Malformation syndrome','no definition available'),('500144','Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome','Malformation syndrome','no definition available'),('500150','Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay and intellectual disability associated with brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities and hypoplasia of the corpus callosum and cerebellar hemispheres), facial dysmorphisms (including facial asymmetry, midface retraction, deep-set eyes, downslanting palpebral fissures, low-set ears, broad and depressed nasal bridge, short philtrum) and musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity). Additional clinical manifestations include seizures, strabismus, vision loss, urogenital malformations, heart defects and short stature.'),('500159','Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom','Malformation syndrome','no definition available'),('500163','SIN3A-related intellectual disability syndrome','Malformation syndrome','no definition available'),('500166','SIN3A-related intellectual disability syndrome due to a point mutation','Etiological subtype','no definition available'),('500180','Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder','Disease','A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.'),('500188','X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('500464','Squamous cell carcinoma of the nasal cavity and paranasal sinuses','Disease','no definition available'),('500478','Squamous cell carcinoma of the oropharynx','Disease','no definition available'),('500481','Squamous cell carcinoma of salivary glands','Histopathological subtype','no definition available'),('500533','Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome','Disease','A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others.'),('500545','Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract','Disease','A rare pervasive developmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive, and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.'),('500548','Osteosclerotic metaphyseal dysplasia','Malformation syndrome','no definition available'),('501','Lafora disease','Disease','Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.'),('502','Trichorhinophalangeal syndrome type 2','Malformation syndrome','A very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.'),('502305','Cochleovestibular dysplasia','Morphological anomaly','no definition available'),('502318','Cochlear nerve deficiency','Morphological anomaly','A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal.'),('502363','Squamous cell carcinoma of the oral cavity','Disease','no definition available'),('502366','Squamous cell carcinoma of the lip','Disease','no definition available'),('502369','Squamous cell carcinoma of oral cavity and lip','Category','no definition available'),('502423','Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome','Disease','A rare genetic neurological disorder characterized by motor developmental delay (in infancy), growth impairment and muscle weakness associated with myopathic abnormalities on muscle biopsy and EMG, as well as tremor, dysmetry, adiadochokinesia and walking disturbances associated with global or partial cerebral atrophy on brain MRI (particularly cerebellar vermis and hemispheres), with or without mild intellectual disability. Some patients also show pigmentary retinopathy.'),('502430','Metopic ridging-ptosis-facial dysmorphism syndrome','Malformation syndrome','no definition available'),('502434','STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome','Malformation syndrome','no definition available'),('502437','4q25 proximal deletion syndrome','Malformation syndrome','A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.'),('502444','Alkaline ceramidase 3 deficiency','Disease','no definition available'),('502499','Erythema multiforme major','Disease','no definition available'),('50251','Pleural mesothelioma','Disease','Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.'),('503','Larsen syndrome','Malformation syndrome','An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.'),('504','Creeping myiasis','Disease','A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.'),('504476','Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome','Disease','A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.'),('504523','Severe combined immunodeficiency due to LAT deficiency','Disease','no definition available'),('504530','Combined immunodeficiency due to Moesin deficiency','Disease','no definition available'),('505','Graham Little-Piccardi-Lassueur syndrome','Disease','A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.'),('505208','3-methylglutaconic aciduria type 8','Disease','no definition available'),('505216','3-methylglutaconic aciduria type 9','Disease','A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.'),('505227','Combined immunodeficiency due to GINS1 deficiency','Disease','no definition available'),('505237','Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome','Malformation syndrome','no definition available'),('505242','Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome','Disease','no definition available'),('505248','Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders','Malformation syndrome','no definition available'),('505395','Ventilator-induced diaphragmatic dysfunction','Particular clinical situation in a disease or syndrome','no definition available'),('505652','CDKL5-related epileptic encephalopathy','Disease','A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.'),('506','Leigh syndrome','Clinical group','A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.'),('506052','Neuroendocrine neoplasm of pancreas','Category','no definition available'),('506060','Functioning neuroendocrine tumor of pancreas','Category','no definition available'),('506075','Non-functioning neuroendocrine tumor of pancreas','Disease','no definition available'),('506090','Serotonin-producing neuroendocrine tumor of pancreas','Disease','no definition available'),('506098','Neuroendocrine carcinoma of pancreas','Disease','no definition available'),('506112','Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas','Disease','no definition available'),('506124','OBSOLETE: Neuroendocrine tumor of small intestine','Clinical group','no definition available'),('506136','Neuroendocrine neoplasm of esophagus','Disease','no definition available'),('506207','Rare disorder potentially indicated for transplant','Category','A group of rare disorders with irreversible organ and/or system dysfunction(s), or the effects of dysfunction after alternative medical and surgical treatments have been utilized, for which the benefits of transplantation outweigh the risk of continuing alternative modalities.'),('506210','Rare disorder potentially indicated for liver transplant','Category','no definition available'),('506213','Rare disorder potentially indicated for kidney transplant','Category','no definition available'),('506216','Rare disorder potentially indicated for bowel transplant','Category','no definition available'),('506219','Rare disorder potentially indicated for hematopoietic stem cell transplant','Category','no definition available'),('506222','Rare disorder potentially indicated for lung transplant','Category','no definition available'),('506225','Rare disorder potentially indicated for heart transplant','Category','no definition available'),('506307','Stromme syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.'),('506334','Familial steroid-resistant nephrotic syndrome with adrenal insufficiency','Disease','no definition available'),('506353','Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction','Disease','A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.'),('506358','Gabriele-de Vries syndrome','Malformation syndrome','no definition available'),('506784','Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome','Clinical subtype','no definition available'),('507','Leishmaniasis','Disease','A parasitic disease caused by different species of the genus Leishmania, transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).'),('508','Leprechaunism','Malformation syndrome','Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.'),('50809','Talo-patello-scaphoid osteolysis','Malformation syndrome','Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.'),('508093','MEPAN syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.'),('50810','Microlissencephaly-micromelia syndrome','Malformation syndrome','Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.'),('50811','Lipodystrophy-intellectual disability-deafness syndrome','Disease','Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.'),('50812','Zellweger-like syndrome without peroxisomal anomalies','Disease','Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.'),('50814','Craniolenticulosutural dysplasia','Malformation syndrome','Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.'),('50815','Branchiogenic deafness syndrome','Malformation syndrome','Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.'),('50816','Spondylometaphyseal dysplasia with combined immunodeficiency','Disease','no definition available'),('50817','Duane anomaly-myopathy-scoliosis syndrome','Disease','Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.'),('50838','NON RARE IN EUROPE: Carpal tunnel syndrome','Disease','no definition available'),('50839','Cat-scratch disease','Disease','Cat-scratch disease is a rare infectious disease, caused by the Gram-negative bacteria Bartonella henselae, that is transmitted to humans via a scratch or bite of an infected cat and that has a variable clinical presentation but that usually manifests with an erythematous papule at the site of inoculation followed by chronic regional lymphadenopathy. Clinical course is usually self-limiting but disseminated illness with high fever, hepatosplenomegaly, granulomatous osteolytic lesions, encephalitis, retinitis, and atypical pneumonia can also occur. Cat-scratch disease can atypically present as parinaud oculoglandular syndrome (unilateral conjunctivitis and preauricular lymphadenopathy).'),('508410','Familial intestinal malrotation','Morphological anomaly','no definition available'),('508476','Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome','Malformation syndrome','no definition available'),('508488','8q24.3 microdeletion syndrome','Malformation syndrome','A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.'),('508498','Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome','Malformation syndrome','no definition available'),('508501','Oral-facial-digital syndrome with short stature and brachymesophalangy','Malformation syndrome','no definition available'),('508512','Congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome','Disease','no definition available'),('508523','Hyperphenylalaninemia due to DNAJC12 deficiency','Disease','A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.'),('508529','Generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss','Disease','no definition available'),('508533','Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome','Disease','no definition available'),('508542','Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome','Disease','no definition available'),('509','Leptospirosis','Disease','Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.'),('50918','Kikuchi-Fujimoto disease','Disease','Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.'),('50920','OBSOLETE: Multiple fibroadenoma of the breast','Disease','no definition available'),('50942','Striate palmoplantar keratoderma','Disease','Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.'),('50943','Keratolytic winter erythema','Disease','Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.'),('50944','Schöpf-Schulz-Passarge syndrome','Disease','Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.'),('50945','Blomstrand lethal chondrodysplasia','Malformation syndrome','Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.'),('51','Aicardi-Goutières syndrome','Disease','An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.'),('510','Lesch-Nyhan syndrome','Disease','Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.'),('51013','OBSOLETE: Melanoma-pancreatic cancer syndrome','Disease','no definition available'),('51083','Familial short QT syndrome','Disease','A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.'),('51084','Torsade-de-pointes syndrome with short coupling interval','Disease','Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.'),('511','Maple syrup urine disease','Disease','A rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.'),('51188','Ethylmalonic encephalopathy','Disease','Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.'),('512','Metachromatic leukodystrophy','Disease','A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Three clinical subtypes can be distinguished based on the age of onset: late infantile, juvenile, and adult. Lead symptoms are deterioration in motor or cognitive function or behavioral problems, depending on the subtype, all eventually culminating in a decerebrated state and death after a highly variable disease course and duration. Mode of inheritance is autosomal recessive.'),('512017','Chronic lymphoproliferative disorder of natural killer cells','Disease','A rare large granular lymphocyte leukemia characterized by persistent (> 6 months) natural killer cell lymphocytosis in the absence of clinical diagnosis of leukemia/lymphoma, autoimmune disease, or chronic viral infections. The clinical course is variable, but generally indolent. Patients often remain asymptomatic, or may present with clinical manifestations including vasculitic skin lesions, neutropenic infections, musculoskeletal symptoms, peripheral neuropathy, or splenomegaly.'),('512034','Large granular lymphocyte leukemia','Clinical group','no definition available'),('51208','Formiminoglutamic aciduria','Disease','A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.'),('512103','Autosomal recessive epidermolytic ichthyosis','Disease','no definition available'),('512260','Congenital cerebellar ataxia due to RNU12 mutation','Disease','A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.'),('513','Acute lymphoblastic leukemia','Clinical group','A rare disease characterized by malignant proliferation of lymphoid cells blocked at an early stage of differentiation and accounts for 75% of all cases of childhood leukaemia.'),('513436','Autosomal recessive spastic paraplegia type 78','Disease','A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.'),('513456','Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome','Disease','no definition available'),('514','Acute monoblastic/monocytic leukemia','Disease','Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).'),('514352','Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome','Malformation syndrome','no definition available'),('514980','ATP13A2-related parkinsonism','Clinical group','no definition available'),('51577','Cobblestone lissencephaly','Clinical group','A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.'),('51608','Generalized arterial calcification of infancy','Disease','A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension.'),('51636','WHIM syndrome','Disease','WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).'),('517','Acute myelomonocytic leukemia','Disease','A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated.'),('518','Acute megakaryoblastic leukemia','Disease','A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.'),('51890','Anterior cutaneous nerve entrapment syndrome','Disease','A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.'),('519','Acute myeloid leukemia','Clinical group','A group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. They manifest by fever, pallor, anemia, hemorrhages and recurrent infections.'),('519264','Inflammatory/autoimmune disorder involving the lacrimal system','Category','no definition available'),('519266','Rare disorder of the ocular adnexa','Category','no definition available'),('519268','Rare disorder with ectropion','Category','no definition available'),('519270','Rare disorder with entropion','Category','no definition available'),('519272','Structural developmental eye defect','Category','no definition available'),('519274','Syndromic lacrimal system disorder','Category','no definition available'),('519276','Anterior segment developmental abnormality with extraocular manifestations','Category','no definition available'),('519278','Infective keratitis','Category','no definition available'),('519280','Rare conjunctivitis','Category','no definition available'),('519282','Rare corneal disorder','Category','no definition available'),('519284','Rare disorder of the anterior segment of the eye','Category','no definition available'),('519286','Rare disorder of the pupil','Category','no definition available'),('519288','Rare disorder with corneal involvement as a major feature','Category','no definition available'),('519290','Rare inflammatory/autoimmune corneal disorder','Category','no definition available'),('519292','Syndromic ectopia lentis','Category','no definition available'),('519294','Syndromic microspherophakia','Category','no definition available'),('519296','Rare disorder with pigmented sclera','Category','no definition available'),('519298','Rare scleral disorder','Category','no definition available'),('519300','Isolated chorioretinal dystrophy','Category','no definition available'),('519302','Isolated macular dystrophy','Category','no definition available'),('519304','Isolated vitreoretinopathy','Category','no definition available'),('519306','Isolated progressive inherited retinal disorder','Category','no definition available'),('519309','Rare choroidal disorder','Category','no definition available'),('519311','Rare disorder of the posterior segment of the eye','Category','no definition available'),('519313','Rare macular disorder','Category','no definition available'),('519315','Rare retinal disorder','Category','no definition available'),('519317','Rare retinal vasculopathy','Category','no definition available'),('519319','Isolated stationary inherited retinal disorder','Category','no definition available'),('519321','Syndromic chorioretinal dystrophy','Category','no definition available'),('519323','Syndromic macular dystrophy','Category','no definition available'),('519325','Syndromic inherited retinal disorder','Category','no definition available'),('519327','Syndromic vitreoretinopathy','Category','no definition available'),('519329','Rare disorder involving multiple structures of the eye','Category','no definition available'),('519331','Secondary early-onset glaucoma','Category','no definition available'),('519333','Congenital optic disc excavation','Category','no definition available'),('519335','OBSOLETE: Inflammatory/autoimmune optic neuropathy','Category','no definition available'),('519337','Disorder with optic nerve compression','Category','no definition available'),('519339','Pseudopapilledema','Category','no definition available'),('519341','Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature','Category','no definition available'),('519343','Rare ophthalmic disorder with cortical involvement','Category','no definition available'),('519345','Rare disorder with optic disc malformation','Category','no definition available'),('519347','Rare neuromuscular disorder with ocular motility/alignment anomaly','Category','no definition available'),('519349','Rare ophthalmic disorder with cranial nerve involvement','Category','no definition available'),('519351','Rare optic nerve disorder','Category','no definition available'),('519353','Rare trochlear nerve disorder','Category','no definition available'),('519355','Rare ocular motility/alignment disorder','Category','no definition available'),('519357','OBSOLETE: Syndromic malformation of the optic disc','Category','no definition available'),('519384','Congenital cystic eye','Morphological anomaly','no definition available'),('519386','Isolated congenital entropion','Morphological anomaly','no definition available'),('519388','Autosomal recessive anterior segment dysgenesis','Malformation syndrome','no definition available'),('519390','Isolated blepharochalasis','Disease','no definition available'),('519392','Isolated iridoschisis','Disease','no definition available'),('519394','Isolated microphakia','Morphological anomaly','no definition available'),('519396','Isolated microspherophakia','Morphological anomaly','no definition available'),('519398','Isolated foveal hypoplasia','Morphological anomaly','A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.'),('519400','Peripapillary staphyloma','Morphological anomaly','no definition available'),('519402','Isolated megalopapilla','Morphological anomaly','no definition available'),('519404','Optic disc pit','Morphological anomaly','no definition available'),('519406','Thygeson superficial punctate keratitis','Disease','no definition available'),('519408','Mooren ulcer','Disease','no definition available'),('519410','Terrien marginal degeneration','Disease','no definition available'),('519930','Fungal keratitis','Disease','no definition available'),('52','Alagille syndrome','Malformation syndrome','A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.'),('520','Acute promyelocytic leukemia','Disease','An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells, and manifests with easy bruising, hemorrhagic diathesis and fatigue.'),('52022','Potocki-Shaffer syndrome','Malformation syndrome','Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).'),('52047','Braddock syndrome','Malformation syndrome','Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.'),('52054','Craniosynostosis-intracranial calcifications syndrome','Malformation syndrome','Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.'),('52055','Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome','Malformation syndrome','Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.'),('52056','Ulnar/fibula ray defect-brachydactyly syndrome','Malformation syndrome','Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.'),('520814','Rare disorder of the visual organs','Category','no definition available'),('520817','Isolated inherited retinal disorder','Category','no definition available'),('520820','Progressive external ophthalmoplegia','Category','no definition available'),('521','Chronic myeloid leukemia','Disease','Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.'),('521123','Radiation-induced plexopathy','Disease','A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.'),('521127','Osteoradionecrosis of the mandible','Disease','no definition available'),('521132','Radiation-induced disorder','Category','no definition available'),('521219','Mirizzi syndrome','Clinical syndrome','no definition available'),('521232','Genetic primary orthostatic disorder','Category','no definition available'),('521236','Primary orthostatic disorder','Category','no definition available'),('521258','Xq25 microduplication syndrome','Malformation syndrome','A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.'),('521268','OBSOLETE: SLC5A6-CDG','Disease','no definition available'),('521305','Proximal myopathy with focal depletion of mitochondria','Disease','A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.'),('521308','Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome','Malformation syndrome','no definition available'),('521390','Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome','Malformation syndrome','A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.'),('521399','NON RARE IN EUROPE: Non rare obesity','Disease','no definition available'),('521406','Dystonia-parkinsonism-hypermanganesemia syndrome','Disease','A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.'),('521411','Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect','Disease','A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.'),('521414','Autosomal dominant Charcot-Marie-Tooth disease type 2DD','Disease','A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.'),('521426','PLAA-associated neurodevelopmental disorder','Malformation syndrome','A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.'),('521432','Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome','Disease','A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported.'),('521438','Congenital vertebral-cardiac-renal anomalies syndrome','Malformation syndrome','no definition available'),('521445','Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome','Malformation syndrome','no definition available'),('521450','LAMA5-related multisystemic syndrome','Disease','no definition available'),('52183','Premature chromosome condensation with microcephaly and intellectual disability','Malformation syndrome','no definition available'),('522037','Primary autoimmune enteropathy','Disease','no definition available'),('522043','Syndromic autoimmune enteropathy','Clinical group','no definition available'),('522077','Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome','Disease','A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures.'),('522504','Rare genetic disorder of the visual organs','Category','no definition available'),('522506','Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature','Category','no definition available'),('522508','Rare genetic ophthalmic disorder with cortical involvement','Category','no definition available'),('522510','Rare genetic ophthalmic disorder with cranial nerve involvement','Category','no definition available'),('522512','Rare genetic optic nerve disorder','Category','no definition available'),('522514','Congenital optic disc excavation of genetic origin','Category','no definition available'),('522516','Rare genetic ocular motility/alignment disorder','Category','no definition available'),('522518','Rare genetic disorder with strabismus','Category','no definition available'),('522520','Syndromic genetic disorder with strabismus','Category','no definition available'),('522522','Rare genetic neuromuscular disorder with ocular motility/alignment anomaly','Category','no definition available'),('522524','Rare genetic disorder of the ocular adnexa','Category','no definition available'),('522526','Rare genetic palpebral disorder','Category','no definition available'),('522528','Rare genetic eyelid malposition disorder','Category','no definition available'),('522530','Rare genetic disorder with entropion','Category','no definition available'),('522532','Rare genetic disorder of the lacrimal apparatus','Category','no definition available'),('522534','Lacrimal drainage system anomaly of genetic origin','Category','no definition available'),('522536','Structural developmental eye defect of genetic origin','Category','no definition available'),('522538','Rare genetic disorder of the anterior segment of the eye','Category','no definition available'),('522540','Anterior segment developmental anomaly of genetic origin','Category','no definition available'),('522542','Rare genetic disorder with conjunctival involvement as a major feature','Category','no definition available'),('522544','Rare genetic conjunctivitis','Category','no definition available'),('522546','Rare genetic disorder with lens opacification','Category','no definition available'),('522548','Syndromic genetic cataract','Category','no definition available'),('522550','Lens size anomaly of genetic origin','Category','no definition available'),('522552','Lens position anomaly of genetic origin','Category','no definition available'),('522554','Syndromic genetic ectopia lentis','Category','no definition available'),('522556','Rare genetic corneal disorder','Category','no definition available'),('522558','Rare genetic disorder with corneal involvement as a major feature','Category','no definition available'),('522560','Genetic corneal dystrophy','Category','no definition available'),('522562','Genetic superficial corneal dystrophy','Category','no definition available'),('522564','Syndromic genetic keratoconus','Category','no definition available'),('522566','Rare genetic inflammatory/autoimmune corneal disorder','Category','no definition available'),('522568','Rare genetic disorder of the pupil','Category','no definition available'),('522570','Rare genetic disorder of the posterior segment of the eye','Category','no definition available'),('522572','Rare genetic retinal disorder','Category','no definition available'),('522574','Rare genetic macular disorder','Category','no definition available'),('522576','Rare genetic retinal vasculopathy','Category','no definition available'),('522578','Rare genetic disorder involving multiple structures of the eye','Category','no definition available'),('522580','Secondary early-onset glaucoma of genetic origin','Category','no definition available'),('522584','Rare genetic choroidal disorder','Category','no definition available'),('523','Hereditary leiomyomatosis and renal cell cancer','Disease','Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.'),('523000','Pediatric-onset glaucoma','Category','no definition available'),('52368','Mohr-Tranebjaerg syndrome','Disease','An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.'),('524','Li-Fraumeni syndrome','Disease','A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers.'),('52416','Mantle cell lymphoma','Disease','Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone``.'),('52417','MALT lymphoma','Disease','MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.'),('52427','Retinitis punctata albescens','Disease','A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.'),('52428','Congenital muscular dystrophy type 1C','Disease','no definition available'),('52429','Branchiootic syndrome','Malformation syndrome','Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).'),('52430','Inclusion body myopathy with Paget disease of bone and frontotemporal dementia','Disease','Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.'),('525','Lichen planopilaris','Disease','A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.'),('52503','X-linked creatine transporter deficiency','Disease','X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.'),('52530','Pseudo-von Willebrand disease','Disease','Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.'),('525677','Genetic congenital malformation of the eye with glaucoma as a major feature','Category','no definition available'),('525731','Pediatric-onset Graves disease','Disease','no definition available'),('525738','Prepubertal anorexia nervosa','Disease','A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others.'),('526','Liddle syndrome','Disease','A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.'),('52662','Rare teratologic disease','Category','no definition available'),('52688','Myelodysplastic syndrome','Clinical group','no definition available'),('527276','Encephalopathy due to mitochondrial and peroxisomal fission defect','Disease','A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.'),('527450','Severe myopia-generalized joint laxity-short stature syndrome','Malformation syndrome','no definition available'),('527468','Diaphragmatic hernia-short bowel-asplenia syndrome','Malformation syndrome','no definition available'),('527497','NKX6-2-related autosomal recessive hypomyelinating leukodystrophy','Disease','A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.'),('52759','Vasculitis','Category','Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease; see these terms), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis; see these terms). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behçet disease, see this term) to relatively minor skin disease.'),('528','Berardinelli-Seip congenital lipodystrophy','Disease','Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).'),('528084','Non-specific syndromic intellectual disability','Disease','no definition available'),('528091','Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome','Disease','no definition available'),('528105','Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome','Disease','no definition available'),('528623','Hereditary angioedema with C1Inh deficiency','Disease','no definition available'),('528647','Hereditary angioedema with normal C1Inh','Disease','no definition available'),('528663','Acquired angioedema with C1Inh deficiency','Disease','no definition available'),('529','Roch-Leri mesosomatous lipomatosis','Disease','Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.'),('52901','Isolated follicle stimulating hormone deficiency','Disease','no definition available'),('529468','Monoclonal mast cell activation syndrome','Disease','no definition available'),('529574','Duane retraction syndrome with congenital deafness','Malformation syndrome','no definition available'),('529665','Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome','Malformation syndrome','A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.'),('529799','Acute bilirubin encephalopathy','Clinical syndrome','A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.'),('529808','Chronic bilirubin encephalopathy','Clinical syndrome','A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.'),('529819','NON RARE IN EUROPE: Exfoliation syndrome','Disease','no definition available'),('529828','Enzalutamide toxicity','Particular clinical situation in a disease or syndrome','no definition available'),('529831','Letrozole toxicity','Particular clinical situation in a disease or syndrome','no definition available'),('529852','Combined hepatocellular carcinoma and cholangiocarcinoma','Disease','no definition available'),('529864','Secondary erythromelalgia','Disease','no definition available'),('52994','Orbital leiomyoma','Disease','Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.'),('529962','17q24.2 microdeletion syndrome','Malformation syndrome','A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.'),('529965','Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome','Malformation syndrome','no definition available'),('529970','Male infertility due to acephalic spermatozoa','Clinical subtype','no definition available'),('529974','Immune dysregulation with inflammatory bowel disease','Clinical group','no definition available'),('529977','Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome','Disease','no definition available'),('529980','Inflammatory bowel disease-recurrent sinopulmonary infections syndrome','Disease','no definition available'),('53','Albers-Schönberg osteopetrosis','Malformation syndrome','A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ``sandwich vertebrae`` (dense bands of sclerosis parallel to the vertebral endplates).'),('530','Lipoid proteinosis','Malformation syndrome','Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.'),('530033','Dermoid or epidermoid cyst of the central nervous system','Morphological anomaly','no definition available'),('530298','Progressive myoclonic epilepsy with neuroserpin inclusion bodies','Clinical subtype','no definition available'),('530303','Progressive dementia with neuroserpin inclusion bodies','Clinical subtype','no definition available'),('530313','PIK3CA-related overgrowth syndrome','Clinical group','no definition available'),('53035','Caroli disease','Malformation syndrome','Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.'),('530792','RELA fusion-positive ependymoma','Disease','A rare ependymal tumor characterized by the presence of a RELA fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.'),('530838','KRT1-related diffuse nonepidermolytic keratoderma','Disease','A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.'),('530849','Familial apolipoprotein A5 deficiency','Etiological subtype','no definition available'),('530983','Lamb-Shaffer syndrome','Disease','no definition available'),('530995','Mixed phenotype acute leukemia','Disease','no definition available'),('531','Miller-Dieker syndrome','Malformation syndrome','Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.'),('531151','9q21.13 microdeletion syndrome','Malformation syndrome','A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.'),('53271','Muenke syndrome','Malformation syndrome','Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.'),('53296','Familial cutaneous collagenoma','Disease','Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.'),('533','Listeriosis','Disease','A rare bacterial infectious disease caused by the foodborne pathogen Listeria monocytogenes, characterized by a febrile gastroenteritis, which is usually mild and self-limiting in otherwise healthy persons, but can progress to severe illness in at-risk groups like pregnant women, elderly people, immunocompromised people, and neonates. Complications include sepsis, meningitis, and encephalitis. Listeriosis during pregnancy usually occurs during the third trimester and may lead to preterm labor, miscarriage, stillbirth, or intrauterine infection of the unborn child.'),('53347','Brody myopathy','Disease','A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without ATP2A1 mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.'),('53351','X-linked dystonia-parkinsonism','Disease','X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.'),('53372','Hereditary geniospasm','Disease','Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.'),('534','Oculocerebrorenal syndrome of Lowe','Malformation syndrome','A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.'),('535','Rare cutaneous lupus erythematosus','Clinical group','Rare cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).'),('53540','Goldmann-Favre syndrome','Disease','Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).'),('535453','Familial lipase maturation factor 1 deficiency','Etiological subtype','no definition available'),('535458','Familial GPIHBP1 deficiency','Etiological subtype','no definition available'),('53583','Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity','Disease','A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.'),('536','Systemic lupus erythematosus','Disease','no definition available'),('536391','RASopathy','Clinical group','no definition available'),('536467','B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome','Clinical subtype','A rare subtype of spondylodysplastic Ehlers-Danlos syndrome characterized by short stature, variable degrees of muscle hypotonia, and bowing of limbs. Additional features include characteristic radiographic findings (like platyspondyly, anterior beak of vertebral body, short ilia, metaphyseal flaring, and generalized osteoporosis), skin hyperextensibility, soft and doughy skin, thin translucent skin, delayed motor and/or cognitive development, kyphoscoliosis, joint hypermobility (generalized or restricted to distal joints), characteristic craniofacial features (like midfacial hypoplasia, blue sclerae, frontal bossing, depressed nasal bridge, low‐set ears, micrognathia, abnormal dentition), joint contractures, ascending aortic aneurysm, and lung hypoplasia, among others. Molecular testing is obligatory to confirm the diagnosis.'),('536471','Spondylodysplastic Ehlers-Danlos syndrome','Disease','A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), soft, doughy, thin, hyperextensible skin, muscular hypotonia (ranging from congenitally severe to mild with later‐onset), pes planus/equinovarus/valgus and, more variably, osteopenia, delayed cognitive and motor development, and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.'),('536516','Myopathic Ehlers-Danlos syndrome','Disease','A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.'),('536532','Classical-like Ehlers-Danlos syndrome type 2','Disease','A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.'),('536545','Kyphoscoliotic Ehlers-Danlos syndrome','Disease','A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.'),('53689','Congenital chloride diarrhea','Disease','no definition available'),('53690','Congenital lactase deficiency','Disease','Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.'),('53691','Congenital cornea plana','Morphological anomaly','no definition available'),('53693','GRACILE syndrome','Disease','An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).'),('53696','Arthrogryposis-anterior horn cell disease syndrome','Malformation syndrome','no definition available'),('53697','Gnathodiaphyseal dysplasia','Malformation syndrome','Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.'),('53698','Hyaline body myopathy','Disease','no definition available'),('537','Toxic epidermal necrolysis','Clinical subtype','An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.'),('537072','PLG-related hereditary angioedema with normal C1Inh','Etiological subtype','no definition available'),('53715','Familial tumoral calcinosis','Disease','Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions display collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.'),('53719','Wyburn-Mason syndrome','Malformation syndrome','Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.'),('53721','Spinal arteriovenous metameric syndrome','Malformation syndrome','Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.'),('53739','Distal hereditary motor neuropathy','Clinical group','no definition available'),('537891','ANGPT1-related hereditary angioedema with normal C1Inh','Etiological subtype','no definition available'),('538','Lymphangioleiomyomatosis','Disease','Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).'),('538096','Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy','Disease','A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.'),('538101','Congenital axonal neuropathy with encephalopathy','Disease','A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.'),('538238','Neurological channelopathy of the central nervous system due to a genetic chloride channel defect','Category','no definition available'),('538574','Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome','Disease','A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near‐normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.'),('538756','Familial multiple discoid fibromas','Disease','A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.'),('538863','Classic pyoderma gangrenosum','Clinical subtype','A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.'),('538866','Pustular pyoderma gangrenosum','Clinical subtype','no definition available'),('538869','Bullous pyoderma gangrenosum','Clinical subtype','A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.'),('538872','Vegetative pyoderma gangrenosum','Clinical subtype','A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.'),('538931','X-linked lymphoproliferative disease due to SH2D1A deficiency','Disease','A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.'),('538934','X-linked lymphoproliferative disease due to XIAP deficiency','Disease','A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked XIAP gene, resulting in B cell lymphoproliferation and manifestating with various phenotypes which include EBV-driven hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, recurrent splenomegaly, hepatitis, colitis, and intestinal bowel disease with features of Crohn`s disease. Additional manifestations include variable auto-inflammatory symptoms such as uveitis, arthritis, skin abscesses, erythema nodosum, and nephritis. Neurological involvement is rare and lymphoma is never observed. Laboratory findings include normal or increased activated T cells, low or normal iNKT cells, and normal or reduced memory B cells.'),('538958','Combined immunodeficiency due to CD70 deficiency','Disease','A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.'),('538963','Combined immunodeficiency due to ITK deficiency','Disease','no definition available'),('54','X-linked recessive ocular albinism','Disease','X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.'),('540','Familial hemophagocytic lymphohistiocytosis','Disease','Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.'),('54028','Plummer-Vinson syndrome','Disease','Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.'),('54057','Thrombotic thrombocytopenic purpura','Disease','Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).'),('541','Primary cutaneous CD30+ T-cell lymphoproliferative disease','Clinical group','no definition available'),('541423','Growth delay-intellectual disability-hepatopathy syndrome','Disease','A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.'),('541443','Anomalous aortic origin of the left coronary artery','Morphological anomaly','A rare coronary artery congenital malformation characterized by an anomalous origin and course of the left coronary artery, which originates from the right aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death at any age (typically following intense physical exertion) may be observed. This malformation is associated with a high risk of sudden cardiac death so surgical revascularization is recommended even in cases with no associated evidence of myocardial ischemia.'),('541454','Anomalous aortic origin of the right coronary artery','Morphological anomaly','A rare coronary artery congenital malformation characterized by an anomalous origin and course of the right coronary artery, which originates from the left aortic sinus of Valsalva and has an abnormal proximal course, which may be intramural, prepulmonic, subpulmonic, retroaortic, retrocardiac or wrapped around the apex. Patients are frequently asymptomatic, although chest pain, dyspnea, palpitations, dizziness, syncope, and sudden cardiac arrest/death at any age (typically following intense physical exertion) may be observed. This malformation is associated with a lower risk of sudden cardiac death therefore surgical revascularization is recommended only when signs and/or symptoms of ischemia are present.'),('541478','Anomalous aortic origin of coronary artery','Clinical group','A rare group of coronary artery congenital malformation disorders characterized by an anomalous origin and course of the left or right coronary artery, which originates from the contralateral aortic sinus of Valsalva and has an anomalous trajectory which may be: pre-pulmonary (with no hemodynamic consequences), retroaortic (with a course posterior to the aortic root and no hemodynamic consequences), interarterial (located between the aorta and the pulmonary artery and associated with a poorer prognosis), subpulmonary (with an intraconal or intraseptal course), or retrocardiac (located in the posterior atrioventricular sulcus). Clinical manifestations depend on the specific anomalous origin and course which is present, with patients being frequently asymptomatic, although nonspecific chest pain, palpitations, dizziness, dyspnea or syncope, usually following physical exertion, may be associated. Sudden death, due to compression/occlusion of the coronary artery and usually associated with, or immediately following, vigorous physical exercise, may be occasionally observed.'),('541507','Anomalous origin of coronary artery from the pulmonary artery','Morphological anomaly','A rare coronary artery congenital malformation characterized by an anomalous origin of the left (ALCAPA) or right (ARCAPA) coronary artery from the pulmonary artery, with variable clinical presentation, ranging from asymptomatic to early heart failure and death depending on the degree of development of collateral circulation between the left and right coronary artery systems, as well as the pressure level of the pulmonary artery. Infants typically present with feeding difficulties, failure to thrive, dyspnea, irritability, hyperhidrosis, heart murmurs, tachypnea, tachycardia and/or chest pain while adults usually associate dyspnea, chest pain, syncope, and intolerance to physical exercise. Sudden death may occur due to congestive heart failure, myocardial infarction, valvular insufficiencies or ventricular arrhythmias. The majority of cases reported are of an ALCAPA, while ARCAPA is rarely observed.'),('542','Primary cutaneous lymphoma','Category','Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.'),('542301','Severe combined immunodeficiency due to CARMIL2 deficiency','Disease','no definition available'),('542306','GNB5-related intellectual disability-cardiac arrhythmia syndrome','Disease','no definition available'),('542310','Leukoencephalopathy with calcifications and cysts','Disease','A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.'),('542323','CAR T cell therapy-associated cytokine release syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('54238','Myotonic dystrophy type 3','Disease','no definition available'),('54247','Posterior cortical atrophy','Disease','Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.'),('54251','Corticosteroid-sensitive aseptic abscess syndrome','Disease','Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.'),('542568','Quadricuspid aortic valve','Morphological anomaly','no definition available'),('542585','Auditory neuropathy-optic atrophy syndrome','Disease','A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.'),('542592','Necrobiosis lipoidica','Disease','no definition available'),('54260','Left ventricular noncompaction','Disease','Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.'),('542643','Livedoid vasculopathy','Clinical syndrome','no definition available'),('542657','Isolated hyperchlorhidrosis','Disease','no definition available'),('54272','Hepatocellular adenoma','Disease','Hepatocellular adenoma (HA) is a rare benign tumor of the liver.'),('542822','Anomaly of the coronary ostia','Clinical group','no definition available'),('543','Burkitt lymphoma','Disease','Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.'),('543470','Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome','Disease','no definition available'),('54368','Sarcocystosis','Disease','A rare parasitic disease characterized by infection with sarcocystis species with humans as definitive (intestinal sarcocystosis) or aberrant intermediate (muscular sarcocystosis with development of sarcocysts in myocytes of skeletal, cardiac, and smooth muscle) host. Enteric infection is often mild or asymptomatic but may cause symptomatic enteritis with nausea, abdominal pain, diarrhea, and vomiting. Symptoms of muscular sarcocystosis include fever, fatigue, headache, cough, myalgia, and arthralgia, among others, with the possibility of a long-lasting, waxing and waning course.'),('54370','Primary membranoproliferative glomerulonephritis','Disease','Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes.'),('544','Diffuse large B-cell lymphoma','Clinical group','Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL; see this term) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.'),('544254','SYNGAP1-related developmental and epileptic encephalopathy','Disease','A rare infantile epilepsy syndrome characterized by developmental delay or regression, intellectual disability, and epilepsy, which may present as eyelid myoclonia with absences, atypical and typical absences, myoclonic, atonic, myoclonic-atonic, or unclassified drop attacks, tonic-clonic seizures, or reflex seizures mostly triggered by eating. In some patients the eyelid myoclonia evolves to a drop attack. Other common features include behavioral problems, high pain threshold, hypotonia, eating and sleeping problems, autism spectrum disorder, and ataxia or gait abnormalities.'),('544458','Hemolytic uremic syndrome','Clinical group','no definition available'),('544469','PRUNE1-related neurological syndrome','Malformation syndrome','no definition available'),('544472','Atypical hemolytic uremic syndrome with complement gene abnormality','Etiological subtype','no definition available'),('544482','Infection-related hemolytic uremic syndrome','Disease','no definition available'),('544488','Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome','Disease','no definition available'),('544493','Streptococcus pneumoniae-associated hemolytic uremic syndrome','Clinical subtype','no definition available'),('544503','RNF13-related severe early-onset epileptic encephalopathy','Disease','A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination.'),('544578','Congenital primary megaureter, refluxing and obstructed form','Clinical subtype','no definition available'),('544590','Collagen-related glomerular basement membrane disease','Category','no definition available'),('544602','Congenital myopathy with reduced type 2 muscle fibers','Disease','no definition available'),('544628','Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome','Disease','no definition available'),('545','Follicular lymphoma','Disease','Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.'),('54595','Craniopharyngioma','Disease','Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.'),('547','Non-Hodgkin lymphoma','Category','Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.'),('548','Leprosy','Disease','A chronic infectious disease affecting primarily the skin and peripheral nervous system.'),('549','Legionellosis','Disease','Legionellosis or Legionnaires` disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.'),('55','Oculocutaneous albinism','Clinical group','Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.'),('550','MELAS','Disease','MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.'),('551','MERRF','Disease','MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.'),('552','MODY','Disease','MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.'),('553','Cushing syndrome','Clinical group','Cushing`s syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.'),('555','NON RARE IN EUROPE: Celiac disease','Disease','no definition available'),('555402','NAD(P)HX dehydratase deficiency','Disease','no definition available'),('555407','NAD(P)HX epimerase deficiency','Disease','no definition available'),('555434','Fibrohistiocytic inflammatory pseudotumor of the liver','Clinical subtype','A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.'),('555437','Lymphoplasmacytic inflammatory pseudotumor of the liver','Clinical subtype','A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.'),('555874','Congenital tricuspid valve dysplasia','Morphological anomaly','no definition available'),('555877','FLNA-related X-linked myxomatous valvular dysplasia','Morphological anomaly','no definition available'),('555905','IgA pemphigus','Disease','A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.'),('55595','TNP03-related limb-girdle muscular dystrophy D2','Disease','A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.'),('55596','HNRNPDL-related limb-girdle muscular dystrophy D3','Disease','A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.'),('556','Malakoplakia','Disease','Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.'),('556030','Early-onset familial hypoaldosteronism','Clinical subtype','no definition available'),('556037','Late-onset familial hypoaldosteronism','Clinical subtype','no definition available'),('556508','Rare disorder due to poisoning','Category','no definition available'),('55654','Hypotrichosis simplex','Disease','Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.'),('55655','Pneumococcal meningitis','Disease','A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, and clouding of consciousness. It is frequently fatal and, in surviving patients, often accompanied by long-term sequelae, especially focal neurological deficits, hearing loss, cognitive impairment, and epilepsy.'),('556955','Pancreatic agenesis-holoprosencephaly syndrome','Disease','no definition available'),('556985','Early-onset calcifying leukoencephalopathy-skeletal dysplasia','Disease','A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.'),('557','Isolated anorectal malformation','Clinical group','A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.'),('557003','Oculocerebrodental syndrome','Disease','no definition available'),('557056','Spastic ataxia-dysarthria due to glutaminase deficiency','Disease','A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.'),('557064','Neonatal epileptic encephalopathy due to glutaminase deficiency','Disease','A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.'),('557866','Rare disorder with Hirschsprung disease as a major feature','Category','no definition available'),('558','Marfan syndrome','Disease','Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.'),('558411','Idiopathic gastroparesis','Disease','A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition.'),('55880','Chondrosarcoma','Disease','Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and progressive pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.'),('55881','Adamantinoma','Disease','A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.'),('559','Marinesco-Sjögren syndrome','Disease','Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.'),('56','Alkaptonuria','Disease','A rare disorder of phenylalanine and tyrosine metabolism characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).'),('560','Marshall syndrome','Malformation syndrome','A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.'),('56044','Carcinoma of gallbladder and extrahepatic biliary tract','Clinical group','Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.'),('561','Marshall-Smith syndrome','Malformation syndrome','Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.'),('561854','FOXG1 syndrome','Disease','no definition available'),('562','McCune-Albright syndrome','Disease','McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).'),('562509','Heme oxygenase-1 deficiency','Disease','no definition available'),('562528','Congenital limbs-face contractures-hypotonia-developmental delay syndrome','Malformation syndrome','no definition available'),('562538','Autosomal recessive extra-oral halitosis','Disease','no definition available'),('562559','Anterior maxillary protrusion-strabismus-intellectual disability syndrome','Malformation syndrome','no definition available'),('562569','TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome','Malformation syndrome','A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.'),('562639','Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome','Disease','no definition available'),('563','Peripartum cardiomyopathy','Disease','Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.'),('56304','Atelosteogenesis type II','Malformation syndrome','A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.'),('56305','Atelosteogenesis type III','Malformation syndrome','A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.'),('563576','Autoimmune hepatitis type 1','Clinical subtype','no definition available'),('563581','Autoimmune hepatitis type 2','Clinical subtype','no definition available'),('563589','Seronegative autoimmune hepatitis','Clinical subtype','no definition available'),('563609','Isolated anencephaly','Clinical subtype','no definition available'),('563612','Isolated exencephaly','Clinical subtype','no definition available'),('563666','Serous cystadenoma of childhood','Histopathological subtype','no definition available'),('563671','Mucinous cystadenoma of childhood','Histopathological subtype','no definition available'),('563676','Seromucinous cystadenoma of childhood','Histopathological subtype','no definition available'),('563684','Furuncular myiasis due to Dermatobia hominis','Clinical subtype','no definition available'),('563687','Furuncular myiasis due to Cordylobia anthropophaga','Clinical subtype','no definition available'),('563690','Furuncular myiasis due to Cordylobia rodhaini','Clinical subtype','no definition available'),('563708','Syndromic congenital sodium diarrhea','Disease','no definition available'),('563951','Isolated congenital aglossia','Clinical subtype','no definition available'),('563954','Isolated congenital hypoglossia','Clinical subtype','no definition available'),('563991','Osteochondrosis of the tarsal bone','Disease','no definition available'),('564','Meckel syndrome','Malformation syndrome','Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.'),('564003','Osteochondrosis of the metatarsal bone','Disease','no definition available'),('564127','Genetic nephrotic syndrome','Clinical group','no definition available'),('564178','Primary hypomagnesemia with refractory seizures and intellectual disability','Disease','no definition available'),('56425','Cold agglutinin disease','Disease','Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).'),('565','Menkes disease','Disease','Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.'),('565612','Triglyceride deposit cardiomyovasculopathy','Disease','no definition available'),('565624','Combined oxidative phosphorylation defect type 39','Disease','no definition available'),('565641','Primary desmosis coli','Disease','no definition available'),('565779','Rare disorder potentially indicated for transplant or complication after transplantation','Category','no definition available'),('565782','Methotrexate toxicity','Disease','no definition available'),('565788','Infantile inflammatory bowel disease with neurological involvement','Disease','no definition available'),('565837','Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23','Disease','no definition available'),('565858','Craniosynostosis-microretrognathia-severe intellectual disability syndrome','Malformation syndrome','no definition available'),('565899','POMGNT2-related limb-girdle muscular dystrophy R24','Disease','no definition available'),('565909','Calpain-3-related limb-girdle muscular dystrophy D4','Disease','no definition available'),('566','Congenital microcoria','Malformation syndrome','Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.'),('566067','CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome','Disease','no definition available'),('566175','Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome','Disease','no definition available'),('566192','Congenital autosomal recessive small-platelet thrombocytopenia','Disease','no definition available'),('566231','Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha','Disease','no definition available'),('566243','Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta','Disease','no definition available'),('566393','Acute mast cell leukemia','Clinical subtype','no definition available'),('566396','Chronic mast cell leukemia','Clinical subtype','no definition available'),('566841','Liver adenomatosis','Disease','no definition available'),('566847','Aprosencephaly/atelencephaly spectrum','Morphological anomaly','no definition available'),('566852','Atelencephaly','Clinical subtype','no definition available'),('566857','Aprosencephaly','Clinical subtype','no definition available'),('566862','Left sided atrial isomerism','Malformation syndrome','no definition available'),('566943','Mueller-Weiss syndrome','Disease','no definition available'),('567','22q11.2 deletion syndrome','Malformation syndrome','22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.'),('567502','B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome','Disease','no definition available'),('567544','Idiopathic non-lupus full-house nephropathy','Clinical syndrome','no definition available'),('567546','Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance','Clinical syndrome','no definition available'),('567548','Idiopathic steroid-resistant nephrotic syndrome','Clinical syndrome','no definition available'),('567550','Idiopathic multidrug-resistant nephrotic syndrome','Clinical subtype','no definition available'),('567552','Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy','Clinical subtype','no definition available'),('567554','Systemic disease with glomerulopathy as a major feature','Category','no definition available'),('567556','Genetic systemic disease with glomerulopathy as a major feature','Category','no definition available'),('567558','Non-genetic systemic disease with glomerulopathy as a major feature','Category','no definition available'),('567560','Systemic vasculitis associated with glomerulopathy','Category','no definition available'),('567562','Disorder with multisystemic involvement and glomerulopathy','Category','no definition available'),('567564','Nephrotic syndrome without extrarenal manifestations','Category','no definition available'),('567983','Parenteral nutrition-associated cholestasis','Particular clinical situation in a disease or syndrome','no definition available'),('568','Microphthalmia, Lenz type','Malformation syndrome','Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).'),('568041','Primary lymphedema without systemic or visceral involvement','Category','no definition available'),('568044','Primary lymphedema with systemic or visceral involvement','Category','no definition available'),('568047','Disorder with multisystemic involvement and primary lymphedema','Category','no definition available'),('568051','GJC2-related late-onset primary lymphedema','Disease','no definition available'),('568056','Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome','Disease','no definition available'),('568062','PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis','Disease','no definition available'),('568065','EPHB4-related lymphatic-related hydrops fetalis','Disease','no definition available'),('569','Familial or sporadic hemiplegic migraine','Disease','A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).'),('569164','Angiomatoid fibrous histiocytoma','Disease','no definition available'),('569248','Microcystic stromal tumor','Disease','no definition available'),('569274','Multiple mitochondrial dysfunctions syndrome type 5','Disease','no definition available'),('569290','Multiple mitochondrial dysfunctions syndrome type 6','Disease','no definition available'),('56965','Progressive bulbar paralysis of childhood','Disease','no definition available'),('56970','Human prion disease','Category','Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD; see this term) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease (see these terms). Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).'),('569816','CELSR1-related late-onset primary lymphedema','Disease','no definition available'),('569821','Congenital primary lymphedema of Gordon','Disease','no definition available'),('57','Glycogen storage disease due to aldolase A deficiency','Disease','Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.'),('570','Moebius syndrome','Disease','A very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.'),('570371','Transient antenatal Bartter syndrome','Clinical subtype','no definition available'),('570422','Galactose mutarotase deficiency','Disease','no definition available'),('570431','Idiopathic multicentric Castleman disease','Clinical subtype','no definition available'),('570438','HHV-8-associated multicentric Castleman disease','Clinical subtype','no definition available'),('570470','Ricin poisoning','Disease','no definition available'),('570491','QRSL1-related combined oxidative phosphorylation defect','Disease','no definition available'),('570762','Infective endocarditis','Disease','no definition available'),('57145','SUNCT syndrome','Disease','SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).'),('57146','Rare hepatic disease','Category','no definition available'),('57194','OBSOLETE: Aseptic osteitis','Disease','no definition available'),('57196','Medial condensing osteitis of the clavicle','Disease','no definition available'),('572','Immunodeficiency by defective expression of MHC class II','Disease','A rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.'),('572013','Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome','Malformation syndrome','no definition available'),('572333','Blepharophimosis-ptosis-epicanthus inversus syndrome plus','Malformation syndrome','no definition available'),('572354','Blepharophimosis-ptosis-epicanthus inversus syndrome type 1','Clinical subtype','no definition available'),('572361','Blepharophimosis-ptosis-epicanthus inversus syndrome type 2','Clinical subtype','no definition available'),('572385','Brachydactyly type B1','Clinical subtype','no definition available'),('572428','Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia','Disease','no definition available'),('572543','RFVT2-related riboflavin transporter deficiency','Clinical subtype','no definition available'),('572550','RFVT3-related riboflavin transporter deficiency','Clinical subtype','no definition available'),('572761','DONSON-related microcephaly-short stature-limb abnormalities spectrum','Malformation syndrome','no definition available'),('572768','Microcephaly-micromelia syndrome','Clinical subtype','no definition available'),('572773','Microcephaly-short stature-limb abnormalities syndrome','Clinical subtype','no definition available'),('572798','WARS2-related combined oxidative phosphorylation defect','Disease','no definition available'),('573','Monilethrix','Disease','A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.'),('573163','Pheochromocytoma-paraganglioma','Clinical group','A rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla (pheochromocytoma) or from sympathetic and parasympathetic ganglia (paraganglioma). These tumors are most often benign and may produce catecholamines in excess causing hypertension and sometimes severe acute cardiovascular complications.'),('573253','Split cord malformation type II','Clinical subtype','no definition available'),('573278','Split cord malformation','Morphological anomaly','no definition available'),('574','Monosomy 21','Malformation syndrome','Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.'),('574918','Predisposition to severe viral infection due to IRF7 deficiency','Disease','no definition available'),('574957','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency','Disease','no definition available'),('575','Muckle-Wells syndrome','Disease','Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).'),('575553','Cathepsin A-related arteriopathy-strokes-leukoencephalopathy','Disease','no definition available'),('576','Mucolipidosis type II','Disease','Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.'),('576074','Middle East respiratory syndrome','Disease','no definition available'),('576227','Complete atrioventricular septal defect without ventricular hypoplasia','Clinical subtype','no definition available'),('576232','Partial atrioventricular septal defect with ventricular hypoplasia','Clinical subtype','no definition available'),('576235','Partial atrioventricular septal defect without ventricular hypoplasia','Clinical subtype','no definition available'),('576242','Intermediate atrioventricular septal defect','Morphological anomaly','no definition available'),('576278','SATB2-associated syndrome','Malformation syndrome','no definition available'),('576283','SATB2-associated syndrome due to a pathogenic variant','Etiological subtype','no definition available'),('576349','NLRC4-related familial cold autoinflammatory syndrome','Disease','no definition available'),('576356','Sporadic human prion disease','Category','no definition available'),('576360','Acquired human prion disease','Category','no definition available'),('576370','Variant Creutzfeldt-Jakob disease','Disease','no definition available'),('576379','Iatrogenic Creutzfeldt-Jakob disease','Disease','no definition available'),('576742','Genetic hemolytic uremic syndrome','Category','no definition available'),('577','Mucolipidosis type III','Disease','A rare, inborn error of metabolism characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. Progressive hip dysplasia may cause bone pain and leads to waddling gait. Other features may include mild corneal clouding, carpal tunnel syndrome, cardiac valvular disease, mild coarsening of facial features, and mild intellectual disability.'),('57777','Cirrhotic cardiomyopathy','Disease','Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.'),('57782','Mazabraud syndrome','Malformation syndrome','Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.'),('578','Mucolipidosis type IV','Disease','Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.'),('579','Mucopolysaccharidosis type 1','Disease','Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.'),('58','Alexander disease','Disease','A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.'),('580','Mucopolysaccharidosis type 2','Disease','A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.'),('58017','Classic hairy cell leukemia','Disease','A rare, slowly progressive, chronic leukemia characterized by presence of abnormal B-lymphocytes (medium sized with abundant irregular pale cytoplasm, hair-like cytoplasmic projections/ruffled cytoplasmic border, a round or bean-shaped nucleus and absent nucleoli) in the blood or bone marrow, spleen and peripheral blood pancytopenia, notable monocytopenia, and marked susceptibility to infection. The characteristic immunophenotype is CD11c+, CD25+, CD103+ and CD123+ with a BRAF mutation in most cases.'),('58040','Osteoblastoma','Disease','A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.'),('580572','Intraductal tubulopapillary neoplasm of pancreas','Disease','no definition available'),('580933','Lethal brain and heart developmental defects','Malformation syndrome','no definition available'),('580940','QRICH1-related intellectual disability-chondrodysplasia syndrome','Malformation syndrome','no definition available'),('580951','Punctate inner choroidopathy','Disease','no definition available'),('581','Mucopolysaccharidosis type 3','Disease','Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.'),('581271','Cramp-fasciculation syndrome','Disease','no definition available'),('582','Mucopolysaccharidosis type 4','Disease','Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.'),('58208','NON RARE IN EUROPE: Pericarditis','Disease','no definition available'),('58220','OBSOLETE: Microscopic colitis','Disease','no definition available'),('583','Mucopolysaccharidosis type 6','Disease','Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.'),('583097','Congenital infiltrating lipomatosis of the face','Disease','no definition available'),('583595','Serine biosynthesis pathway deficiency, infantile/juvenile form','Disease','no definition available'),('583602','Neu-laxova syndrome due to phosphoserine aminotransferase deficiency','Etiological subtype','no definition available'),('583607','Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency','Etiological subtype','no definition available'),('583612','Neu-laxova due to 3-phosphoserine phosphatase deficiency','Etiological subtype','no definition available'),('583856','Isolated splenic vein thrombosis','Disease','no definition available'),('583861','Isolated mesenteric vein thrombosis','Disease','no definition available'),('584','Mucopolysaccharidosis type 7','Disease','A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.'),('585','Multiple sulfatase deficiency','Disease','Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.'),('586','Cystic fibrosis','Disease','Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.'),('587','Muir-Torre syndrome','Disease','Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.'),('588','Muscle-eye-brain disease','Malformation syndrome','A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.'),('589','Myasthenia gravis','Disease','Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.'),('59','Allan-Herndon-Dudley syndrome','Disease','An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.'),('590','Congenital myasthenic syndrome','Disease','Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.'),('591','Furuncular myiasis','Disease','Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).'),('59135','Laing early-onset distal myopathy','Disease','Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.'),('59181','Sorsby pseudoinflammatory fundus dystrophy','Disease','Sorsby`s fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.'),('592','Macrophagic myofasciitis','Disease','no definition available'),('59298','Schilder disease','Disease','Schilder`s disease is a progressive demyelinating disorder of the central nervous system.'),('593','Myofibrillar myopathy','Category','Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.'),('59303','Neonatal ichthyosis-sclerosing cholangitis syndrome','Disease','Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.'),('59305','Gestational trophoblastic neoplasm','Clinical group','Gestational trophoblastic tumors (GTT) are malignant forms of gestational trophoblastic disease. The tumor always follows pregnancy, most often molar pregnancy (hydatidiform mole; see this term). Four histological subtypes have been described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor (see these terms).'),('59306','McLeod neuroacanthocytosis syndrome','Disease','McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington`s disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.'),('59315','Rhombencephalosynapsis','Malformation syndrome','A rare cerebellar malformation characterized by congenital complete or partial fusion of the cerebellar hemispheres, dentate nuclei, and middle cerebellar peduncles, and complete or partial absence of the vermis. It may occur as an isolated anomaly or together with other malformations of the brain and is associated with variable clinical manifestations including developmental delay, ataxia, dysarthria, oculomotor abnormalities, seizures, and involuntary head movements, among others.'),('595','Centronuclear myopathy','Clinical group','A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.'),('596','X-linked centronuclear myopathy','Disease','A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.'),('597','Central core disease','Disease','Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.'),('598','Multiminicore myopathy','Disease','A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.'),('599','Distal myopathy','Category','Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.'),('6','3-methylcrotonyl-CoA carboxylase deficiency','Disease','3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.'),('60','Alpha-1-antitrypsin deficiency','Disease','A hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.'),('600','Vocal cord and pharyngeal distal myopathy','Disease','Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.'),('60014','Argyria','Disease','A rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).'),('60015','Enlarged parietal foramina','Malformation syndrome','Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.'),('60025','Pulmonary alveolar microlithiasis','Disease','no definition available'),('60026','Pulmonary nodular lymphoid hyperplasia','Disease','Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.'),('60030','Loeys-Dietz syndrome','Malformation syndrome','Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.'),('60032','Recurrent respiratory papillomatosis','Disease','Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory tract infections, pneumonia, dysphagia, stridor, and/or failure to thrive.'),('60033','Idiopathic bronchiectasis','Disease','Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).'),('60039','Pudendal neuralgia','Disease','A rare, acquired peripheral neuropathy disease characterized by chronic neuropathic pain involving the sensory territory of the pudendal nerve (from clitoris to anus or from penis to anus), aggravated by sitting and for which no organic cause can be found by imaging studies or laboratory tests. It is often associated with pelvic dysfunction.'),('60040','Megalencephaly-capillary malformation-polymicrogyria syndrome','Malformation syndrome','A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.'),('60041','Congenital heart block','Disease','Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.'),('602','GNE myopathy','Disease','GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.'),('603','Distal myopathy, Welander type','Disease','A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.'),('606','Proximal myotonic myopathy','Disease','A rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.'),('607','Nemaline myopathy','Clinical group','Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.'),('609','Tibial muscular dystrophy','Disease','Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.'),('61','Alpha-mannosidosis','Disease','An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.'),('610','Bethlem myopathy','Disease','Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.'),('611','Inclusion body myositis','Disease','Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.'),('612','Potassium-aggravated myotonia','Clinical group','Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms).'),('614','Thomsen and Becker disease','Disease','A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).'),('615','Familial atrial myxoma','Disease','Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.'),('616','Medulloblastoma','Disease','Medulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia.'),('617','Congenital primary megaureter','Morphological anomaly','Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.'),('618','Familial melanoma','Disease','Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.'),('619','NON RARE IN EUROPE: Primary ovarian failure','Disease','no definition available'),('62','Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3','Disease','A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.'),('620','Common mesentery','Morphological anomaly','no definition available'),('621','Hereditary methemoglobinemia','Disease','A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).'),('622','Homocystinuria without methylmalonic aciduria','Disease','Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).'),('623','NAME syndrome','Disease','no definition available'),('624','Familial multiple nevi flammei','Morphological anomaly','Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.'),('625','NON RARE IN EUROPE: Atypical mole','Disease','no definition available'),('626','Large congenital melanocytic nevus','Disease','A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.'),('627','Nance-Horan syndrome','Malformation syndrome','Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.'),('628','Diastrophic dwarfism','Disease','A rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).'),('629','Short stature due to growth hormone qualitative anomaly','Clinical subtype','Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.'),('63','Alport syndrome','Disease','A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.'),('631','Non-acquired isolated growth hormone deficiency','Disease','no definition available'),('632','Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia','Clinical subtype','no definition available'),('63259','Iniencephaly','Morphological anomaly','Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.'),('63260','Craniorachischisis','Morphological anomaly','Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.'),('63261','HERNS syndrome','Malformation syndrome','no definition available'),('63269','Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis','Clinical subtype','no definition available'),('63273','Distal myopathy with posterior leg and anterior hand involvement','Disease','Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.'),('63275','Pemphigoid gestationis','Disease','A rare autoimmune bullous skin disease characterized by pruritus with or without polymorphic skin eruptioneruptions, affecting pregnant women typically during the second and third trimester. Skin eruptions may include erythematous papules and plaques, erythema multiforme-like or eczematous lesions, papulovesicles, and bullae, and typically affects the umbilicus, abdomen, and extremities.'),('633','Laron syndrome','Disease','Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.'),('634','Netherton syndrome','Disease','Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.'),('63440','Isolated oxycephaly','Morphological anomaly','Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.'),('63442','Angel-shaped phalango-epiphyseal dysplasia','Malformation syndrome','A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.'),('63443','Rare epithelial tumor of stomach','Category','no definition available'),('63446','Acrocapitofemoral dysplasia','Malformation syndrome','A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.'),('63454','Pattern dystrophy','Category','no definition available'),('63455','Paraneoplastic pemphigus','Disease','A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia.'),('635','Neuroblastoma','Disease','Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.'),('636','Neurofibromatosis type 1','Disease','Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.'),('637','Neurofibromatosis type 2','Disease','Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.'),('638','Neurofibromatosis-Noonan syndrome','Malformation syndrome','Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).'),('63862','Schisis association','Malformation syndrome','Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.'),('639','Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG','Disease','Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.'),('63999','IgG4-related mediastinitis','Disease','no definition available'),('64','Alström syndrome','Disease','A rare multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.'),('640','Hereditary neuropathy with liability to pressure palsies','Malformation syndrome','A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people.'),('641','Multifocal motor neuropathy','Disease','Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.'),('642','Hereditary sensory and autonomic neuropathy type 4','Disease','A rare hereditary sensory and autonomic neuropathy characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.'),('64280','Childhood absence epilepsy','Disease','Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.'),('643','Giant axonal neuropathy','Disease','Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.'),('644','NARP syndrome','Disease','A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.'),('64542','Acrofacial dysostosis, Kennedy-Teebi type','Malformation syndrome','A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.'),('64545','Benign idiopathic neonatal seizures','Disease','A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.'),('646','Niemann-Pick disease type C','Disease','Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.'),('64686','Tolosa-Hunt syndrome','Disease','Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.'),('64692','Oroya fever','Disease','no definition available'),('64694','Trench fever','Disease','A rare bacterial infectious disease caused by the louse-borne bacterium Bartonella quintana and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.'),('647','Nijmegen breakage syndrome','Malformation syndrome','Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.'),('64720','Leiomyosarcoma','Disease','A rare soft tissue sarcoma characterized by a malignant space-occupying lesion most commonly located in the retroperitoneum or the inferior vena cava, but also other soft tissues, and composed of cells showing distinct features of smooth muscle cells. The tumor presents with mass effect depending on the location. It is capable of both local recurrence and distant metastasis, while lymph node metastasis is rare. Prognosis largely depends on tumor location and size.'),('64722','Granulomatous mastitis','Disease','A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.'),('64734','Iridocorneal endothelial syndrome','Disease','Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications'),('64738','NON RARE IN EUROPE: Non rare thrombophilia','Disease','no definition available'),('64739','Ovarian hyperstimulation syndrome','Disease','A rare non-malformative gynecological disease affecting pre-menopausal women usually following treatment with ovarian stimulating hormones, characterized by ovarian enlargement and, to varying degrees, shift of serum from the intravascular space to the third space, mainly into the peritoneal, pleural, and to a lesser extent to the pericardial cavities. Presenting symptoms include abdomen distention, pain, nausea, and vomiting. Severity ranges from mild to life-threatening and is complicated by increased risk of thrombosis, acute hepato-renal failure, acute respiratory distress syndrome, and ovarian torsion and rupture.'),('64740','NON RARE IN EUROPE: Recurrent acute pancreatitis','Disease','no definition available'),('64741','Pulmonary blastoma','Disease','A biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ``blastema-like`` configuration that resembles an embryonic lung.'),('64742','Pleuropulmonary blastoma','Disease','no definition available'),('64743','Hepatoportal sclerosis','Disease','A rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.'),('64744','IgG4-related thyroid disease','Disease','A fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficul¼ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.'),('64745','Pruritic urticarial papules and plaques of pregnancy','Disease','A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks.'),('64746','Autosomal dominant Charcot-Marie-Tooth disease type 2','Clinical group','no definition available'),('64747','X-linked Charcot-Marie-Tooth disease','Clinical group','A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.'),('64748','Dejerine-Sottas syndrome','Disease','A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.'),('64749','Charcot-Marie-Tooth disease type 4','Clinical group','A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.'),('64751','Hereditary motor and sensory neuropathy type 5','Disease','Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.'),('64752','Hereditary sensory and autonomic neuropathy type 5','Disease','A disorder that is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.'),('64753','Spinocerebellar ataxia with axonal neuropathy type 2','Disease','A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.'),('64754','Nevus comedonicus syndrome','Disease','A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.'),('64755','Becker nevus syndrome','Disease','A rare, syndromic, benign, epidemal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.'),('648','Noonan syndrome','Malformation syndrome','A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.'),('649','Norrie disease','Malformation syndrome','A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.'),('65','Leber congenital amaurosis','Disease','Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.'),('650','LCAT deficiency','Disease','LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.'),('651','NON RARE IN EUROPE: Idiopathic infantile nystagmus','Disease','no definition available'),('652','Multiple endocrine neoplasia type 1','Disease','A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.'),('65250','Perineural cyst','Disease','A disorder that is characterized by the presence of cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.'),('65279','OBSOLETE: Lymphocytic colitis','Clinical subtype','no definition available'),('65282','Carvajal syndrome','Disease','A syndrome that is characterized by woolly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle.'),('65283','Timothy syndrome','Malformation syndrome','A multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.'),('65284','Biotin-thiamine-responsive basal ganglia disease','Disease','A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.'),('65285','Lhermitte-Duclos disease','Disease','A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.'),('65286','3q29 microdeletion syndrome','Malformation syndrome','A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.'),('65287','Beta-ureidopropionase deficiency','Disease','Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).'),('65288','Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome','Malformation syndrome','Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.'),('653','Multiple endocrine neoplasia type 2','Disease','A multiple endocrine neoplasia, a polyglandular cancer syndrome. There are two forms of MEN2: MEN2A and MEN2B.'),('654','Nephroblastoma','Disease','A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.'),('655','Nephronophthisis','Disease','A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, cystic renal disease and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.'),('656','Genetic steroid-resistant nephrotic syndrome','Disease','A rare disorder characterized by a nephrotic syndrome with often early onset.'),('65681','Vaginal atresia','Morphological anomaly','no definition available'),('65682','Benign recurrent intrahepatic cholestasis','Disease','Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term).'),('65683','Isolated focal cortical dysplasia','Disease','Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.'),('65684','Monomelic amyotrophy','Disease','Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.'),('657','Congenital isolated hyperinsulinism','Clinical group','Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism (see these terms).'),('65720','Arthrogryposis-severe scoliosis syndrome','Malformation syndrome','Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.'),('65743','Autosomal dominant multiple pterygium syndrome','Malformation syndrome','A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.'),('65748','Multiple self-healing squamous epithelioma','Disease','Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.'),('65753','Charcot-Marie-Tooth disease type 1','Clinical group','Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.'),('65759','Carpenter syndrome','Malformation syndrome','Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.'),('65798','Goodman syndrome','Malformation syndrome','Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.'),('658','Non-histaminic angioedema','Clinical group','A disorder that is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.'),('659','Mutilating palmoplantar keratoderma with periorificial keratotic plaques','Disease','Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.'),('660','Omphalocele','Morphological anomaly','A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.'),('661','Ondine syndrome','Disease','Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung`s disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.'),('662','Yellow nail syndrome','Disease','A rare, syndromic nail anomaly disease characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.'),('663','Mitochondrial DNA-related progressive external ophthalmoplegia','Disease','An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.'),('664','Ornithine transcarbamylase deficiency','Disease','A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.'),('665','Albright hereditary osteodystrophy','Disease','no definition available'),('66518','Short fifth metacarpals-insulin resistance syndrome','Disease','Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.'),('66529','Tako-Tsubo cardiomyopathy','Disease','A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger however, recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS).'),('666','Osteogenesis imperfecta','Disease','Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.'),('66624','PANDAS','Disease','PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.'),('66625','Cerebrooculonasal syndrome','Malformation syndrome','Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.'),('66627','Pigmented villonodular synovitis','Disease','Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.'),('66628','Obesity due to congenital leptin deficiency','Etiological subtype','Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.'),('66629','Goldberg-Shprintzen megacolon syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).'),('66630','Congenital pseudoarthrosis of the clavicle','Disease','Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.'),('66631','CEDNIK syndrome','Disease','CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.'),('66633','Sensorineural hearing loss-early graying-essential tremor syndrome','Malformation syndrome','Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.'),('66634','Dilated cardiomyopathy with ataxia','Disease','Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.'),('66637','Diaphanospondylodysostosis','Malformation syndrome','Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.'),('66646','Cutaneous mastocytosis','Clinical group','Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis (see this term).'),('66661','Mast cell sarcoma','Disease','Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.'),('66662','Extracutaneous mastocytoma','Disease','no definition available'),('667','Autosomal recessive malignant osteopetrosis','Malformation syndrome','Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.'),('668','Osteosarcoma','Disease','Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.'),('669','OBSOLETE: Otopalatodigital syndrome','Malformation syndrome','no definition available'),('67','Amoebiasis due to Entamoeba histolytica','Disease','A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.'),('670','PIBIDS syndrome','Disease','no definition available'),('67036','Autosomal dominant optic atrophy and cataract','Disease','A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).'),('67037','OBSOLETE: Squamous cell carcinoma of head and neck','Disease','no definition available'),('67038','B-cell chronic lymphocytic leukemia','Disease','B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.'),('67039','Segmental odontomaxillary dysplasia','Disease','Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.'),('67041','Hyaluronidase deficiency','Disease','no definition available'),('67042','Late-onset retinal degeneration','Disease','Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.'),('67043','Amoebic keratitis','Disease','A rare corneal infection due to the protozoan Acanthamoeba that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.'),('67044','Thrombocytopenia with congenital dyserythropoietic anemia','Disease','Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.'),('67045','X-linked intellectual disability with isolated growth hormone deficiency','Clinical subtype','no definition available'),('67046','3-methylglutaconic aciduria type 1','Disease','3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.'),('67047','3-methylglutaconic aciduria type 3','Disease','3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.'),('67048','3-methylglutaconic aciduria type 4','Disease','3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).'),('671','Primary cutis verticis gyrata','Clinical group','A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.'),('672','Pallister-Hall syndrome','Malformation syndrome','Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.'),('673','Malaria','Disease','A life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.'),('674','Accessory pancreas','Morphological anomaly','A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.'),('675','Annular pancreas','Morphological anomaly','A distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.'),('676','Hereditary chronic pancreatitis','Disease','A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.'),('677','Pancreatoblastoma','Disease','A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells is characterized by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.'),('678','Papillon-Lefèvre syndrome','Disease','Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.'),('679','Malignant atrophic papulosis','Disease','Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.'),('68','Amoebiasis due to free-living amoebae','Disease','A rare parasitic disease caused by free-living amoebae belonging to the Acanthamoeba, Naegleria and Balamuthia genera, that are able to survive in an autonomous state in all natural environments and can also parasitize humans. In immunosuppressed individuals Acanthamoeba genus contamination leads to granulomatous amoebic encephalitis (also reported in association with species of the Balamuthia genus) together with other problems including cardiac, cutaneous and pulmonary manifestations, all of which influence the prognosis. In immunocompetent individuals, the Naegleria fowleri species is responsible for primary amoebic meningoencephalitis, the evolution of which is rapidly fatal.'),('680','Normokalemic periodic paralysis','Disease','no definition available'),('681','Hypokalemic periodic paralysis','Disease','A rare disorder characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.'),('682','Hyperkalemic periodic paralysis','Disease','A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.'),('683','Progressive supranuclear palsy','Disease','A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.'),('68329','Rare maxillo-facial surgical disease','Category','no definition available'),('68334','Rare hemorrhagic disorder due to a constitutional coagulation factors defect','Category','no definition available'),('68335','Rare chromosomal anomaly','Category','no definition available'),('68336','Rare genetic tumor','Category','no definition available'),('68341','Multiple congenital anomalies/dysmorphic syndrome','Category','no definition available'),('68346','Rare genetic skin disease','Category','no definition available'),('68347','Tumor of hematopoietic and lymphoid tissues','Category','no definition available'),('68354','Rare sleep disorder','Category','no definition available'),('68356','Leukodystrophy','Category','no definition available'),('68361','Rare deafness','Category','no definition available'),('68362','Rare vascular disease','Category','no definition available'),('68363','Rare dystonia','Category','no definition available'),('68364','Hemoglobinopathy','Category','no definition available'),('68366','Lysosomal disease','Category','no definition available'),('68367','Rare inborn errors of metabolism','Category','no definition available'),('68373','Peroxisomal disease','Category','no definition available'),('68378','Congenital limb malformation','Category','no definition available'),('68380','Mitochondrial disease','Category','no definition available'),('68381','Neuromuscular disease','Category','no definition available'),('68383','Rare constitutional aplastic anemia','Category','no definition available'),('68385','Neurometabolic disease','Category','no definition available'),('68388','OBSOLETE: Neurofibromatosis','Clinical group','no definition available'),('684','Paramyotonia congenita of Von Eulenburg','Disease','Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).'),('68402','Rare parkinsonian disorder','Category','no definition available'),('68411','Rare bone tumor','Category','no definition available'),('68415','Rare parathyroid disease and phosphocalcic metabolism anomaly','Category','no definition available'),('68416','Rare infectious disease','Category','no definition available'),('68419','Vascular anomaly or angioma','Category','no definition available'),('685','Hereditary spastic paraplegia','Clinical group','A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.'),('69','Amyloidosis','Category','A vast group of diseases defined by the presence of insoluble protein deposits in tissues. Amyloidoses are classified according to clinical signs and biochemical type of amyloid protein involved.'),('69028','Dysostosis with brachydactyly','Category','Brachydactyly (`short digits`) is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.'),('69061','Idiopathic steroid-sensitive nephrotic syndrome','Clinical syndrome','Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.'),('69063','Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization','Disease','A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.'),('69076','Familial renal glucosuria','Disease','A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.'),('69077','Rhabdoid tumor','Disease','Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).'),('69078','Liposarcoma','Disease','Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.'),('69082','Odonto-tricho-ungual-digito-palmar syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.'),('69083','Ectodermal dysplasia with natal teeth, Turnpenny type','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.'),('69084','Pure hair and nail ectodermal dysplasia','Malformation syndrome','Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.'),('69085','Limb-mammary syndrome','Malformation syndrome','Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.'),('69087','Naegeli-Franceschetti-Jadassohn syndrome','Disease','Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.'),('69088','Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome','Disease','This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.'),('69125','Anonychia with flexural pigmentation','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.'),('69126','Pyogenic arthritis-pyoderma gangrenosum-acne syndrome','Disease','Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.'),('69127','NON RARE IN EUROPE: Immunoglobulin A deficiency','Disease','no definition available'),('69663','Low phospholipid-associated cholelithiasis','Disease','Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.'),('69665','Intrahepatic cholestasis of pregnancy','Disease','Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.'),('69723','Tyrosinemia type 3','Disease','Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.'),('69735','Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome','Disease','Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.'),('69736','Bilateral acute depigmentation of the iris','Disease','Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.'),('69737','Bosley-Salih-Alorainy syndrome','Malformation syndrome','Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.'),('69739','Athabaskan brainstem dysgenesis syndrome','Disease','A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.'),('69744','Circumscribed palmoplantar hypokeratosis','Disease','Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.'),('69745','Warty dyskeratoma','Disease','A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.'),('699','Pearson syndrome','Disease','Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.'),('7','3C syndrome','Malformation syndrome','Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).'),('70','Proximal spinal muscular atrophy','Disease','Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('700','Alopecia totalis','Disease','A form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.'),('701','Alopecia universalis','Disease','A disorder of most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.'),('702','Pelizaeus-Merzbacher disease','Disease','Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms).'),('703','Bullous pemphigoid','Disease','A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.'),('704','Pemphigus vulgaris','Disease','A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.'),('70470','OBSOLETE: Hyperlipoproteinemia type 5','Disease','no definition available'),('70472','Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type','Disease','Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.'),('70474','Leigh syndrome with cardiomyopathy','Disease','no definition available'),('70475','Radiation proctitis','Disease','Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.'),('70476','Vernal keratoconjunctivitis','Disease','A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys.'),('70482','Carcinoma of esophagus','Clinical group','Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).'),('705','Pendred syndrome','Malformation syndrome','A syndromic genetic deafness clinically variable characterized by bilateral sensorineural hearing loss and euthyroid goiter.'),('70567','Cholangiocarcinoma','Disease','Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic.'),('70568','Post-transplant lymphoproliferative disease','Disease','Post-transplant lymphoproliferative disease (PTLD) describes a heterogeneous group of lymphoproliferative diseases occurring in the context of post-transplant immunosuppression and ranging from benign polyclonal B-cell proliferation to malignant lymphomas.'),('70573','Small cell lung cancer','Disease','Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.'),('70578','Adult acute respiratory distress syndrome','Disease','A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.'),('70587','Infant acute respiratory distress syndrome','Disease','Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.'),('70588','Meconium aspiration syndrome','Disease','Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth.'),('70589','Bronchopulmonary dysplasia','Malformation syndrome','Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.'),('70590','Infantile apnea','Disease','Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.'),('70591','Chronic thromboembolic pulmonary hypertension','Disease','Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.'),('70592','Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency','Disease','Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.'),('70593','Immunodeficiency due to selective anti-polysaccharide antibody deficiency','Disease','Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).'),('70594','Dopa-responsive dystonia due to sepiapterin reductase deficiency','Disease','Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.'),('70595','Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome','Disease','Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.'),('70596','Congenital Epstein-Barr virus infection','Disease','Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.'),('706','NON RARE IN EUROPE: Patent arterial duct','Morphological anomaly','no definition available'),('707','Plague','Disease','Plague is a severe bacterial infection caused by the Gram-negative bacterium Yersinia pestis.'),('708','Peters anomaly','Morphological anomaly','Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.'),('709','Peters plus syndrome','Malformation syndrome','Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.'),('71','Chylomicron retention disease','Disease','Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.'),('710','Pfeiffer syndrome','Malformation syndrome','An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.'),('711','Glycogen storage disease due to phosphoglucomutase deficiency','Disease','no definition available'),('71198','Rare pulmonary hypertension','Category','no definition available'),('712','Hemolytic anemia due to glucophosphate isomerase deficiency','Disease','Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.'),('71202','Rare hemorrhagic disorder due to a constitutional platelet anomaly','Category','no definition available'),('71203','Autoimmune thrombocytopenia','Clinical group','no definition available'),('71209','Rare soft tissue tumor','Category','no definition available'),('71211','Neuromyelitis optica','Disease','Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.'),('71212','Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency','Disease','Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.'),('71213','Retinal capillary malformation','Disease','Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.'),('71267','Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome','Malformation syndrome','A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.'),('71269','OBSOLETE: Benign exophthalmos syndrome','Disease','no definition available'),('71270','OBSOLETE: Auriculoocular anomalies-cleft lip syndrome','Malformation syndrome','no definition available'),('71271','Split hand-split foot-deafness syndrome','Malformation syndrome','Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.'),('71272','Sandifer syndrome','Disease','Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.'),('71273','Renal nutcracker syndrome','Disease','A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.'),('71274','Disseminated peritoneal leiomyomatosis','Disease','Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.'),('71275','Rh deficiency syndrome','Disease','no definition available'),('71276','Silent sinus syndrome','Disease','Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.'),('71277','Classic glucose transporter type 1 deficiency syndrome','Disease','Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.'),('71278','Congenital brain dysgenesis due to glutamine synthetase deficiency','Disease','A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.'),('71279','CANOMAD syndrome','Disease','A rare chronic immune-mediated polyneuropathy characterized by a progressive disabling neuropathy with marked gait disturbance primarily due to sensory ataxia with concurrent cranial neuropathies (internal or external ophthalmoplegia, dysphagia, dysarthria, or facial weakness) and anti-disialosyl IgM antibodies.'),('71281','Rare central nervous system and retinal vascular disease','Category','no definition available'),('71289','Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome','Malformation syndrome','Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).'),('71290','Familial platelet disorder with associated myeloid malignancy','Disease','A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.'),('71291','Hereditary vascular retinopathy','Disease','no definition available'),('713','Glycogen storage disease due to phosphoglycerate kinase 1 deficiency','Disease','A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.'),('714','Hemolytic anemia due to diphosphoglycerate mutase deficiency','Disease','no definition available'),('71493','Familial thrombocytosis','Disease','Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.'),('715','Glycogen storage disease due to muscle phosphorylase kinase deficiency','Disease','Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.'),('71505','Cancer-associated retinopathy','Disease','Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.'),('71516','OBSOLETE: Mixed dystonia','Clinical group','no definition available'),('71517','Rapid-onset dystonia-parkinsonism','Disease','Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.'),('71518','Benign paroxysmal torticollis of infancy','Disease','A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollic posturing of the head between infancy and early-childhood.'),('71519','Psychogenic movement disorders','Clinical syndrome','A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder.'),('71526','Obesity due to pro-opiomelanocortin deficiency','Etiological subtype','Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.'),('71528','Obesity due to prohormone convertase I deficiency','Etiological subtype','Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.'),('71529','Obesity due to melanocortin 4 receptor deficiency','Etiological subtype','Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.'),('716','Phenylketonuria','Disease','Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.'),('717','OBSOLETE: Catecholamine-producing tumor','Category','no definition available'),('718','Isolated Pierre Robin syndrome','Malformation syndrome','A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.'),('71859','Rare genetic neurological disorder','Category','no definition available'),('71862','Inherited retinal disorder','Category','no definition available'),('71864','Muscular channelopathy','Category','no definition available'),('719','OBSOLETE: Pili canulati','Disease','no definition available'),('72','Angelman syndrome','Malformation syndrome','A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.'),('720','Pili bifurcati','Disease','An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.'),('721','Gray platelet syndrome','Disease','Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.'),('722','Hypoplasminogenemia','Disease','Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.'),('723','Pneumocystosis','Disease','Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.'),('724','Idiopathic acute eosinophilic pneumonia','Disease','Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.'),('725','Continuous spikes and waves during sleep','Disease','Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.'),('726','Alpers-Huttenlocher syndrome','Disease','A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.'),('727','Microscopic polyangiitis','Disease','Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.'),('728','Relapsing polychondritis','Disease','A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.'),('729','Polycythemia vera','Disease','Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.'),('73','Gorham-Stout disease','Malformation syndrome','Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.'),('730','Autosomal dominant polycystic kidney disease','Disease','no definition available'),('73014','Intractable diarrhea of infancy','Category','Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different etiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.'),('731','Autosomal recessive polycystic kidney disease','Disease','A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.'),('732','Polymyositis','Disease','A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.'),('73217','Müllerian aplasia','Clinical group','no definition available'),('73220','X-linked intellectual disability-hypotonic face syndrome','Clinical group','Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.'),('73223','Global developmental delay-osteopenia-ectodermal defect syndrome','Malformation syndrome','This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.'),('73224','Tubular renal disease-cardiomyopathy syndrome','Disease','Tubular renal disease-cardiomyopathy syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.'),('73229','HANAC syndrome','Disease','A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye.'),('73230','Ossification anomalies-psychomotor developmental delay syndrome','Disease','Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.'),('73245','Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome','Malformation syndrome','Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome is characterised by infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes.'),('73246','Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome','Malformation syndrome','Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).'),('73247','Eosinophilic esophagitis','Disease','A rare chronic, local immune-mediated disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including, dysphagia, feeding disorders, food impaction, vomiting and abdominal pain) and histologically by eosinophil-predominant inflammation in esophageal biopsies.'),('73256','Central neurocytoma','Disease','Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.'),('73260','Paracoccidioidomycosis','Disease','A rare mycosis characterized by an acute form mostly occurring in children and young adults presenting with fever, weight loss, lymph node enlargement, hepatosplenomegaly, and bone marrow dysfunction, versus a chronic form which usually involves the lungs and mucosae of the upper respiratory tract, skin, lymph nodes, and adrenal glands, but may affect any part of the body. The most common sequelae are chronic respiratory insufficiency and Addison`s disease. The infectious agent, Paracoccidioides brasiliensis, is a fungus limited to Latin America.'),('73263','Zygomycosis','Disease','A rare mycosis caused by ubiquitous, opportunistic fungi of the order Mucorales, characterized by tissue infarction and necrosis due to invasion of the vasculature by hyphae. The spectrum of clinical manifestations depends on the route of infection and includes rhinocerebral, pulmonary, cutaneous, gastrointestinal, renal, and disseminated forms. The disease is usually rapidly progressive and associated with high mortality.'),('73267','Non-24-hour sleep-wake syndrome','Disease','Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.'),('73271','Bleeding diathesis due to a collagen receptor defect','Disease','Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.'),('73272','Growth delay due to insulin-like growth factor type 1 deficiency','Disease','Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.'),('73273','Growth delay due to insulin-like growth factor I resistance','Disease','Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).'),('73274','Acquired hemophilia','Disease','A rare hemorrhagic disorder due to an acquired coagulation factor defect characterized by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucuous membrane hemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or urogenital bleeding, spontaneous bruising, melena, and hematuria.'),('733','Familial adenomatous polyposis','Disease','Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.'),('734','Alpha delta granule deficiency','Disease','no definition available'),('73423','Acute ackee fruit intoxication','Disease','A rare disease caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.'),('735','Porokeratosis of Mibelli','Disease','Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.'),('736','Palmoplantar porokeratosis of Mantoux','Disease','no definition available'),('737','Porokeratosis plantaris palmaris et disseminata','Disease','Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.'),('738','Porphyria','Clinical group','Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.'),('739','Prader-Willi syndrome','Disease','A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.'),('74','Angiostrongyliasis','Disease','A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.'),('740','Hutchinson-Gilford progeria syndrome','Disease','Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).'),('741','Familial mitral valve prolapse','Morphological anomaly','no definition available'),('742','Prolidase deficiency','Disease','Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.'),('743','Severe hereditary thrombophilia due to congenital protein S deficiency','Disease','An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.'),('744','Proteus syndrome','Malformation syndrome','Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.'),('745','Severe hereditary thrombophilia due to congenital protein C deficiency','Disease','Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.'),('746','Mitochondrial trifunctional protein deficiency','Disease','A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..'),('747','Autoimmune pulmonary alveolar proteinosis','Disease','Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).'),('748','Mendelian susceptibility to mycobacterial diseases','Clinical group','Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.'),('749','Congenital prekallikrein deficiency','Disease','no definition available'),('750','Pseudoachondroplasia','Disease','Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.'),('751','NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency','Disease','no definition available'),('75110','Myiasis','Category','no definition available'),('752','46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency','Disease','17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.'),('75233','Wolman disease','Clinical subtype','A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.'),('75234','Cholesteryl ester storage disease','Clinical subtype','A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.'),('75249','Familial isolated restrictive cardiomyopathy','Disease','A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles.'),('753','46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency','Disease','46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.'),('75325','Osteosclerosis-ichthyosis-premature ovarian failure syndrome','Disease','This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.'),('75326','Retinal arterial tortuosity','Disease','no definition available'),('75327','North Carolina macular dystrophy','Disease','North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.'),('75373','Progressive bifocal chorioretinal atrophy','Disease','Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.'),('75374','Bradyopsia','Disease','Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.'),('75376','Familial drusen','Disease','A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.'),('75377','Central areolar choroidal dystrophy','Disease','Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.'),('75378','Oligocone trichromacy','Disease','A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.'),('75381','Cystoid macular dystrophy','Disease','Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa (see this term). It is associated with a poor visual prognosis.'),('75382','Oguchi disease','Malformation syndrome','Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.'),('75389','Brain malformation-congenital heart disease-postaxial polydactyly syndrome','Malformation syndrome','Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.'),('75391','Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency','Disease','The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.'),('75392','Periodontal Ehlers-Danlos syndrome','Disease','Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.'),('754','Androgen insensitivity syndrome','Clinical group','A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).'),('75496','B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome','Clinical subtype','A rare subtype of spondylodysplastic Ehlers-Danlos syndrome characterized by short stature, variable degrees of muscle hypotonia, and bowing of limbs. Additional features include characteristic radiographic findings (like radio-ulnar synostosis, metaphyseal flaring, osteopenia, radial head subluxation or dislocation, and short clavicles with broad medial ends), skin hyperextensibility, soft and doughy skin, thin translucent skin, delayed motor and/or cognitive development, generalized joint hypermobility, characteristic craniofacial features (like triangular or flat face, wide‐spaced eyes, proptosis, narrow mouth, low‐set ears, sparse scalp hair, abnormal dentition, and wide forehead), and ocular abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.'),('75497','X-linked Ehlers-Danlos syndrome','Disease','A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.'),('755','Leydig cell hypoplasia','Disease','A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.'),('75501','OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type','Disease','no definition available'),('75508','Angioosteohypotrophic syndrome','Malformation syndrome','A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.'),('75563','X-linked sideroblastic anemia','Disease','X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.'),('75564','Acquired idiopathic sideroblastic anemia','Disease','A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia.'),('75565','Tropical endomyocardial fibrosis','Disease','Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.'),('75566','Loeffler endocarditis','Disease','Loeffler`s endocarditis is a rare restrictive cardiomyopathy (see this term) characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia (see these terms), carcinoma, or lymphoma.'),('75567','Primary progressive freezing gait','Clinical syndrome','Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.'),('756','Pseudohypoaldosteronism type 1','Disease','Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.'),('757','Pseudohypoaldosteronism type 2','Disease','A rare genetic form of hypertension characterized by hyperkalemia, mild hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, with normal renal glomerular filtration rate (GFR).'),('75789','SIBIDS syndrome','Disease','no definition available'),('75790','Pollitt syndrome','Malformation syndrome','no definition available'),('758','Pseudoxanthoma elasticum','Disease','Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.'),('75840','Congenital muscular dystrophy, Ullrich type','Disease','Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.'),('75857','6q terminal deletion syndrome','Malformation syndrome','6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.'),('75858','MORM syndrome','Disease','MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.'),('759','Central precocious puberty','Disease','Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).'),('76','Strongyloidiasis','Disease','A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).'),('760','Purine nucleoside phosphorylase deficiency','Disease','A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.'),('761','Immunoglobulin A vasculitis','Disease','Schönlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.'),('763','Pycnodysostosis','Disease','Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.'),('764','Pyomyositis','Disease','Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.'),('765','Pyruvate dehydrogenase deficiency','Disease','Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).'),('766','Hemolytic anemia due to red cell pyruvate kinase deficiency','Disease','Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.'),('767','Polyarteritis nodosa','Disease','Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.'),('768','Familial long QT syndrome','Clinical group','Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.'),('769','Rabson-Mendenhall syndrome','Malformation syndrome','A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).'),('77','OBSOLETE: Aniridia','Category','no definition available'),('770','Rabies','Disease','Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.'),('771','NON RARE IN EUROPE: Ulcerative colitis','Disease','no definition available'),('772','Infantile Refsum disease','Disease','Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).'),('77240','Primary lymphedema','Category','Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.'),('77241','OBSOLETE: Lymphedema praecox','Malformation syndrome','no definition available'),('77242','OBSOLETE: Lymphedema tarda','Disease','no definition available'),('77243','Lipedema','Disease','A rare genetic subcutaneous tissue disorder almost exclusively occurring in females, characterized by abnormal symmetrical deposition of subcutaneous fat in the lower extremities, beginning at the hips and extending to the ankles, but typically sparing the feet. The condition is accompanied by pain and easy bruising in the affected areas.'),('77258','Trichorhinophalangeal syndrome type 1 and 3','Malformation syndrome','Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.'),('77259','Gaucher disease type 1','Clinical subtype','Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.'),('77260','Gaucher disease type 2','Clinical subtype','Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.'),('77261','Gaucher disease type 3','Clinical subtype','Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).'),('77292','Niemann-Pick disease type A','Disease','Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.'),('77293','Niemann-Pick disease type B','Disease','Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea'),('77295','Odontoleukodystrophy','Clinical subtype','no definition available'),('77296','Morgagni-Stewart-Morel syndrome','Malformation syndrome','Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.'),('77297','Majeed syndrome','Disease','Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.'),('77298','Anophthalmia/microphthalmia-esophageal atresia syndrome','Malformation syndrome','A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.'),('77299','Microphthalmia-brain atrophy syndrome','Malformation syndrome','Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.'),('773','Refsum disease','Disease','A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.'),('77300','Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome','Malformation syndrome','The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.'),('77301','Monosomy 9q22.3','Malformation syndrome','Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.'),('77302','Oculo-oto-facial dysplasia','Malformation syndrome','no definition available'),('77303','OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect','Etiological subtype','no definition available'),('77304','OBSOLETE: Not NOTCH3-related small vessel disease of the brain','Disease','no definition available'),('774','Hereditary hemorrhagic telangiectasia','Disease','An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.'),('775','OBSOLETE: X-linked intellectual disability, Martinez type','Malformation syndrome','no definition available'),('776','X-linked intellectual disability with marfanoid habitus','Malformation syndrome','The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.'),('777','X-linked non-syndromic intellectual disability','Etiological subtype','no definition available'),('778','Rett syndrome','Disease','A rare genetic neurological disorder almost exclusively affecting females, characterized by rapid developmental regression in infancy with loss of purposeful hand movements, loss of speech, gait abnormalities, and repetitive stereotypic hand movements. Commonly associated are severe intellectual disability, microcephaly, seizures, breathing abnormalities, disturbed sleeping patterns, scoliosis, and impaired social interactions or social withdrawal, among other symptoms. The disease progresses in stages, with late motor deterioration eventually leading to decreased mobility, muscle weakness, rigidity, spasticity, and dystonia.'),('77828','Genetic obesity','Category','no definition available'),('77830','Rare genetic odontologic disease','Category','no definition available'),('779','Reynolds syndrome','Disease','Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).'),('78','Ankylostomiasis','Disease','A hookworm infection caused primarily by the species Ancylostoma duodenale or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.'),('780','Rhabdomyosarcoma','Disease','A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.'),('781','Q fever','Disease','Q fever, caused by Coxiella burnetii, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic.'),('782','Axenfeld-Rieger syndrome','Malformation syndrome','Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.'),('783','Rubinstein-Taybi syndrome','Malformation syndrome','A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.'),('785','Estrogen resistance syndrome','Disease','Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.'),('786','Generalized glucocorticoid resistance syndrome','Disease','A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.'),('788','OBSOLETE: Hereditary resistance to anti-vitamin K','Disease','no definition available'),('79','Congenital alpha2-antiplasmin deficiency','Disease','Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.'),('790','Retinoblastoma','Disease','A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.'),('79022','Simpson-Golabi-Behmel syndrome type 2','Malformation syndrome','no definition available'),('79062','Disorder of amino acid and other organic acid metabolism','Category','no definition available'),('79076','Juvenile polyposis of infancy','Clinical subtype','Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.'),('79078','IgG4-related dacryoadenitis and sialadenitis','Disease','IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).'),('79083','PPARG-related familial partial lipodystrophy','Disease','no definition available'),('79084','Familial partial lipodystrophy, Köbberling type','Disease','Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.'),('79085','AKT2-related familial partial lipodystrophy','Disease','no definition available'),('79086','Acquired generalized lipodystrophy','Disease','A rare lipodystrophic syndrome characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).'),('79087','Acquired partial lipodystrophy','Disease','A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.'),('79088','Localized lipodystrophy','Clinical group','A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitis- induced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy.'),('79091','Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome','Disease','Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.'),('79093','Foix-Alajouanine syndrome','Malformation syndrome','Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.'),('79094','Grange syndrome','Malformation syndrome','Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.'),('79095','Congenital bile acid synthesis defect type 4','Disease','Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.'),('79096','Pyridoxal phosphate-responsive seizures','Disease','Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.'),('79097','Folinic acid-responsive seizures','Disease','Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.'),('79098','Sympathetic ophthalmia','Disease','Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.'),('79099','Interstitial granulomatous dermatitis with arthritis','Disease','Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.'),('791','Retinitis pigmentosa','Disease','Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.'),('79100','Atrophoderma vermiculata','Disease','no definition available'),('79101','Hyperprolinemia type 2','Disease','Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.'),('79102','Thyrotoxic periodic paralysis','Disease','Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.'),('79105','Myxofibrosarcoma','Disease','A rare soft tissue sarcoma characterized by a malignant, fibroblastic lesion with variably myxoid stroma, pleomorphism, and a distinctively curvilinear vascular pattern. The majority of tumors arise in the limbs including the limb girdles, more often in dermal/subcutaneous tissues than in the underlying fascia and skeletal muscle, and usually present as a slowly growing, painless mass. Depth of the lesion and tumor grade do not influence the high rate of local recurrence, while the percentage of metastasis and tumor-associated mortality are much higher in deep-seated and high-grade neoplasms.'),('79106','Eiken syndrome','Malformation syndrome','A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.'),('79107','Developmental malformations-deafness-dystonia syndrome','Malformation syndrome','Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.'),('79113','Mandibulofacial dysostosis-microcephaly syndrome','Malformation syndrome','Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.'),('79118','Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome','Disease','A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.'),('79124','Hepatic veno-occlusive disease-immunodeficiency syndrome','Disease','Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.'),('79126','Acute interstitial pneumonia','Disease','A rare rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.'),('79127','Respiratory bronchiolitis-interstitial lung disease syndrome','Disease','Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.'),('79128','Lymphoid interstitial pneumonia','Disease','no definition available'),('79129','Trichodysplasia-amelogenesis imperfecta syndrome','Malformation syndrome','The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.'),('79132','OBSOLETE: Sparse hair-short stature-skin anomalies syndrome','Malformation syndrome','no definition available'),('79133','Focal facial dermal dysplasia type I','Clinical subtype','Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.'),('79134','DEND syndrome','Disease','DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.'),('79135','Episodic ataxia type 3','Disease','Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.'),('79136','Episodic ataxia type 4','Disease','Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.'),('79137','Generalized epilepsy-paroxysmal dyskinesia syndrome','Disease','Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.'),('79138','Bickerstaff brainstem encephalitis','Disease','Bickerstaff`s brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).'),('79139','Japanese encephalitis','Disease','Japanese encephalitis is an arboviral disease (i.e. a disease due to a virus transmitted by an arthropod).'),('79140','Cutaneous neuroendocrine carcinoma','Disease','Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).'),('79141','Hereditary painful callosities','Disease','A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.'),('79142','NON RARE IN EUROPE: Familial Dupuytren contracture','Disease','no definition available'),('79143','Isolated congenital anonychia','Disease','Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.'),('79144','Isolated congenital onychodysplasia','Disease','no definition available'),('79145','Dowling-Degos disease','Disease','A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.'),('79146','Familial progressive hyperpigmentation','Disease','Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.'),('79147','Familial reactive perforating collagenosis','Disease','Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.'),('79148','Elastosis perforans serpiginosa','Disease','A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.'),('79149','Dermochondrocorneal dystrophy','Disease','Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.'),('79150','Linear and whorled nevoid hypermelanosis','Disease','A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.'),('79151','Acrokeratosis verruciformis of Hopf','Disease','A rare, genetic, acrokeratoderma disease characterized by multiple, symmetrical, asymptomatic, skin-colored (rarely, brownish), flat-topped, wart-like papules located on the dorsal aspects of the hands and feet (occasionally found on other parts of the body, such as knees, elbows and forearms), typically associated with palmoplantar punctate keratosis and variable nail involvement (including leukonychia, thickening, ridging, longitudinal striations and splitting). Histology reveals undulating hyperkeratosis, papillomatosis, hypergranulosis, and acanthosis, creating a characteristic `church spire` appearance, with no acantholysis nor dyskeratosis associated.'),('79152','Disseminated superficial actinic porokeratosis','Disease','Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.'),('79153','Idiopathic trachyonychia','Disease','Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails.'),('79154','2-aminoadipic 2-oxoadipic aciduria','Disease','2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.'),('79155','Hydroxykynureninuria','Disease','A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness.'),('79156','Seizures-intellectual disability due to hydroxylysinuria syndrome','Disease','Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.'),('79157','2-methylbutyryl-CoA dehydrogenase deficiency','Disease','2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is characterized by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine. It has been described in less than 30 patients, mostly from the Hmong population, an ethnic group of Chinese origin. The phenotype is not well defined, ranging from completely asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycemia, and metabolic acidosis. The disorder is transmitted as an autosomal recessive trait. The SBCAD enzyme catalyzes the conversion of 2-methylbutyryl-CoA to tiglyl-CoA in the isoleucine catabolic pathway. Mutations in the SBCAD gene (located on chromosome 10q25-26) have been reported in affected patients. Treatment includes carnitine supplementation and a low-protein diet.'),('79158','Cerebral organic aciduria','Category','no definition available'),('79159','Isobutyryl-CoA dehydrogenase deficiency','Disease','Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).'),('79161','Disorder of carbohydrate metabolism','Category','no definition available'),('79163','Classic organic aciduria','Category','no definition available'),('79166','Disorder of amino acid absorption and transport','Category','no definition available'),('79167','Disorder of urea cycle metabolism and ammonia detoxification','Category','no definition available'),('79168','Disorder of bile acid synthesis','Category','A group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.'),('79169','Disorder of neurotransmitter metabolism and transport','Category','no definition available'),('79171','Disorder of cobalamin metabolism and transport','Category','no definition available'),('79172','Creatine deficiency syndrome','Clinical group','Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.'),('79173','Disorder of methionine cycle and sulfur amino acid metabolism','Category','no definition available'),('79174','Disorder of fatty acid oxidation and ketone body metabolism','Category','no definition available'),('79175','Disorder of gamma-aminobutyric acid metabolism','Category','no definition available'),('79177','Gluconeogenesis disorder','Category','no definition available'),('79178','Glucose transport disorder','Category','no definition available'),('79179','Disorder of glycerol metabolism','Category','no definition available'),('79181','Disorder of histidine metabolism','Category','no definition available'),('79183','Disorder of ketolysis','Category','no definition available'),('79185','Disorder of ornithine or proline metabolism','Category','no definition available'),('79186','Disorder of pentose phosphate metabolism','Category','no definition available'),('79187','Disorder of peptide metabolism','Category','no definition available'),('79188','Peroxisomal beta-oxidation disorder','Category','no definition available'),('79189','Peroxisome biogenesis disorder','Clinical group','Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms).'),('79190','Disorder of phenylalanin or tyrosine metabolism','Category','no definition available'),('79191','Disorder of purine metabolism','Category','no definition available'),('79192','Disorder of pyridoxine metabolism','Category','no definition available'),('79193','Disorder of pyrimidine metabolism','Category','no definition available'),('79194','Disorder of serine or glycine metabolism','Category','no definition available'),('79195','Sterol biosynthesis disorder','Category','no definition available'),('79196','Disorder of the gamma-glutamyl cycle','Category','no definition available'),('79197','Disorder of branched-chain amino acid metabolism','Category','no definition available'),('792','X-linked retinoschisis','Malformation syndrome','X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.'),('79200','Disorder of energy metabolism','Category','no definition available'),('79201','Glycogen storage disease','Category','no definition available'),('79204','Lipid storage disease','Category','no definition available'),('79207','Disorder of lysosomal amino acid transport','Category','no definition available'),('79211','OBSOLETE: Combined hyperlipidemia','Clinical group','no definition available'),('79212','Mucolipidosis','Category','no definition available'),('79213','Mucopolysaccharidosis','Category','no definition available'),('79214','Disorder of biogenic amine metabolism and transport','Category','no definition available'),('79215','Oligosaccharidosis','Category','no definition available'),('79217','Other metabolic disease with skin involvement','Category','no definition available'),('79219','Metabolic disease involving other neurotransmitter deficiency','Category','no definition available'),('79224','Disorder of purine or pyrimidine metabolism','Category','no definition available'),('79225','Sphingolipidosis','Category','no definition available'),('79226','Sterol metabolism disorder','Category','no definition available'),('79230','Hemochromatosis type 2','Disease','Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.'),('79233','Hypoxanthine guanine phosphoribosyltransferase partial deficiency','Disease','Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.'),('79234','Crigler-Najjar syndrome type 1','Clinical subtype','A hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).'),('79235','Crigler-Najjar syndrome type 2','Clinical subtype','A hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). Crigler-Najjar syndrome type 2 (CNS2) is a milder form of Crigler-Najjar syndrome (CNS) than Crigler-Najjar syndrome type 1 (CNS1).'),('79237','Galactokinase deficiency','Disease','A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.'),('79238','Galactose epimerase deficiency','Disease','A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.'),('79239','Classic galactosemia','Disease','A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.'),('79240','Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency','Disease','A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.'),('79241','Biotinidase deficiency','Disease','A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.'),('79242','Holocarboxylase synthetase deficiency','Disease','A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.'),('79243','Pyruvate dehydrogenase E1-alpha deficiency','Clinical subtype','A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.'),('79244','Pyruvate dehydrogenase E2 deficiency','Clinical subtype','A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.'),('79246','Pyruvate dehydrogenase phosphatase deficiency','Clinical subtype','Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.'),('79253','Mild phenylketonuria','Clinical subtype','Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.'),('79254','Classic phenylketonuria','Clinical subtype','Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.'),('79255','GM1 gangliosidosis type 1','Clinical subtype','GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.'),('79256','GM1 gangliosidosis type 2','Clinical subtype','GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.'),('79257','GM1 gangliosidosis type 3','Clinical subtype','GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.'),('79258','Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia','Clinical subtype','Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term).'),('79259','Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib','Clinical subtype','Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).'),('79260','Glycogen storage disease type 1c','Clinical subtype','no definition available'),('79261','Glycogen storage disease type 1d','Clinical subtype','no definition available'),('79262','Adult neuronal ceroid lipofuscinosis','Disease','A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.'),('79263','Infantile neuronal ceroid lipofuscinosis','Disease','Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.'),('79264','Juvenile neuronal ceroid lipofuscinosis','Disease','Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.'),('79269','Sanfilippo syndrome type A','Etiological subtype','no definition available'),('79270','Sanfilippo syndrome type B','Etiological subtype','no definition available'),('79271','Sanfilippo syndrome type C','Etiological subtype','no definition available'),('79272','Sanfilippo syndrome type D','Etiological subtype','no definition available'),('79273','Hereditary coproporphyria','Disease','Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.'),('79276','Acute intermittent porphyria','Disease','A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.'),('79277','Congenital erythropoietic porphyria','Disease','Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.'),('79278','Autosomal erythropoietic protoporphyria','Disease','Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.'),('79279','Alpha-N-acetylgalactosaminidase deficiency type 1','Clinical subtype','A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.'),('79280','Alpha-N-acetylgalactosaminidase deficiency type 2','Clinical subtype','A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.'),('79281','Alpha-N-acetylgalactosaminidase deficiency type 3','Clinical subtype','A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.'),('79282','Methylmalonic acidemia with homocystinuria, type cblC','Clinical subtype','cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.'),('79283','Methylmalonic acidemia with homocystinuria, type cblD','Clinical subtype','cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.'),('79284','Methylmalonic acidemia with homocystinuria type cblF','Clinical subtype','cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.'),('79289','Niemann-Pick disease type D','Disease','no definition available'),('79292','Fish-eye disease','Clinical subtype','Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.'),('79293','Familial LCAT deficiency','Clinical subtype','Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.'),('79298','Diazoxide-resistant focal hyperinsulinism','Clinical group','Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.'),('79299','Hyperinsulinism due to glucokinase deficiency','Disease','Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.'),('793','SAPHO syndrome','Disease','A rare, pyogenic autoinflammatory disease, characterized by the association of neutrophilic cutaneous involvement and chronic nonbacterial osteomyelitis.'),('79301','Congenital bile acid synthesis defect type 1','Disease','Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.'),('79302','Congenital bile acid synthesis defect type 3','Disease','Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.'),('79303','Congenital bile acid synthesis defect type 2','Disease','Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.'),('79304','Progressive familial intrahepatic cholestasis type 2','Clinical subtype','Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.'),('79305','Progressive familial intrahepatic cholestasis type 3','Clinical subtype','Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.'),('79306','Progressive familial intrahepatic cholestasis type 1','Clinical subtype','PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.'),('79310','Vitamin B12-responsive methylmalonic acidemia type cblA','Clinical subtype','no definition available'),('79311','Vitamin B12-responsive methylmalonic acidemia type cblB','Clinical subtype','no definition available'),('79312','Vitamin B12-unresponsive methylmalonic acidemia type mut-','Clinical subtype','Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.'),('79314','L-2-hydroxyglutaric aciduria','Disease','L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.'),('79315','D-2-hydroxyglutaric aciduria','Disease','D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.'),('79316','OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency','Etiological subtype','no definition available'),('79317','OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency','Etiological subtype','no definition available'),('79318','PMM2-CDG','Disease','PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.'),('79319','MPI-CDG','Disease','MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).'),('79320','ALG6-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).'),('79321','ALG3-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).'),('79322','DPM1-CDG','Disease','The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.'),('79323','MPDU1-CDG','Disease','The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.'),('79324','ALG12-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).'),('79325','ALG8-CDG','Disease','A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.'),('79326','ALG2-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.'),('79327','ALG1-CDG','Disease','A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).'),('79328','ALG9-CDG','Disease','A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).'),('79329','MGAT2-CDG','Disease','MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).'),('79330','MOGS-CDG','Disease','MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).'),('79332','B4GALT1-CDG','Disease','B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.'),('79333','COG7-CDG','Disease','COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.'),('79344','OBSOLETE: Chondrodysplasia punctata, Sheffield type','Malformation syndrome','no definition available'),('79345','Brachytelephalangic chondrodysplasia punctata','Malformation syndrome','Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.'),('79346','Chondrodysplasia punctata, tibial-metacarpal type','Malformation syndrome','A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clincially manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachnypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.'),('79347','Chondrodysplasia punctata, Toriello type','Malformation syndrome','Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.'),('79350','3-phosphoserine phosphatase deficiency, infantile/juvenile form','Etiological subtype','3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).'),('79351','3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form','Etiological subtype','3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form'),('79353','Epidermal disease','Category','no definition available'),('79354','Ichthyosis','Category','no definition available'),('79355','Erythrokeratoderma','Category','no definition available'),('79356','Acrokeratoderma','Category','no definition available'),('79357','Hereditary palmoplantar keratoderma','Category','no definition available'),('79358','Porokeratosis','Category','no definition available'),('79359','Other epidermal disorder','Category','no definition available'),('79360','Other genetic epidermal disease','Category','no definition available'),('79361','Inherited epidermolysis bullosa','Category','Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.'),('79362','Epidermal appendage anomaly','Category','no definition available'),('79363','Hair anomaly','Category','no definition available'),('79364','Alopecia','Category','no definition available'),('79365','Rare disorder with hypertrichosis','Category','no definition available'),('79366','Isolated hair shaft abnormality','Category','no definition available'),('79367','Syndromic hair shaft abnormality','Category','no definition available'),('79368','Nail anomaly','Category','no definition available'),('79369','Isolated nail anomaly','Category','no definition available'),('79370','Syndromic nail anomaly','Category','no definition available'),('79372','Sebaceous gland anomaly','Category','no definition available'),('79373','Ectodermal dysplasia syndrome','Category','The term ``ectodermal dysplasia`` defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.'),('79374','Pigmentation anomaly of the skin','Category','no definition available'),('79375','Hyperpigmentation of the skin','Category','no definition available'),('79376','Hypopigmentation of the skin','Category','no definition available'),('79377','Dermis disorder','Category','no definition available'),('79378','Dermis elastic tissue disorder','Category','no definition available'),('79379','Skin vascular disease','Category','no definition available'),('79380','Mixed dermis disorder','Category','no definition available'),('79381','Other dermis disorder','Category','no definition available'),('79382','Subcutaneous tissue disease','Category','no definition available'),('79383','OBSOLETE: Lymphedema','Category','no definition available'),('79384','Rare urticaria','Category','no definition available'),('79385','Unclassified genetic skin disorder','Category','no definition available'),('79386','Rare skin tumor or hamartoma','Category','no definition available'),('79387','Metabolic disease with skin involvement','Category','no definition available'),('79388','Mucopolysaccharidosis with skin involvement','Category','no definition available'),('79389','Premature aging','Category','no definition available'),('79390','Rare photodermatosis','Category','no definition available'),('79391','Immune deficiency with skin involvement','Category','no definition available'),('79394','Congenital non-bullous ichthyosiform erythroderma','Disease','Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.'),('79395','Keratoderma hereditarium mutilans with ichthyosis','Disease','Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.'),('79396','Epidermolysis bullosa simplex, generalized severe','Disease','Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.'),('79397','Epidermolysis bullosa simplex with mottled pigmentation','Disease','Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.'),('79399','Epidermolysis bullosa simplex, generalized intermediate','Disease','Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.'),('794','Saethre-Chotzen syndrome','Malformation syndrome','A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.'),('79400','Localized epidermolysis bullosa simplex','Disease','Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.'),('79401','Epidermolysis bullosa simplex, Ogna type','Disease','Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.'),('79402','Junctional epidermolysis bullosa, generalized intermediate','Clinical subtype','Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.'),('79403','Junctional epidermolysis bullosa-pyloric atresia syndrome','Disease','Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.'),('79404','Junctional epidermolysis bullosa, generalized severe','Disease','Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.'),('79405','Junctional epidermolysis bullosa inversa','Disease','Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.'),('79406','Late-onset junctional epidermolysis bullosa','Disease','Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.'),('79407','Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type','Clinical subtype','no definition available'),('79408','Severe generalized recessive dystrophic epidermolysis bullosa','Disease','Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.'),('79409','Recessive dystrophic epidermolysis bullosa inversa','Disease','Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.'),('79410','Pretibial dystrophic epidermolysis bullosa','Disease','Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.'),('79411','Transient bullous dermolysis of the newborn','Disease','Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.'),('79414','Woolly hair nevus','Disease','Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.'),('79428','OBSOLETE: Familial segmental neurofibromatosis','Clinical subtype','no definition available'),('79429','OBSOLETE: Familial spinal neurofibromatosis','Clinical subtype','no definition available'),('79430','Hermansky-Pudlak syndrome','Disease','Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.'),('79431','Oculocutaneous albinism type 1A','Clinical subtype','Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.'),('79432','Oculocutaneous albinism type 2','Disease','Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.'),('79433','Oculocutaneous albinism type 3','Disease','Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.'),('79434','Oculocutaneous albinism type 1B','Clinical subtype','Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.'),('79435','Oculocutaneous albinism type 4','Disease','Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.'),('79443','Pseudohypoparathyroidism type 1A','Disease','Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).'),('79444','Pseudohypoparathyroidism type 1C','Disease','Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright`s hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).'),('79445','Pseudopseudohypoparathyroidism','Disease','Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).'),('79446','Multiple pterygium syndrome, Aslan type','Etiological subtype','no definition available'),('79447','X-linked lethal multiple pterygium syndrome','Malformation syndrome','X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.'),('79450','Non-hereditary congenital primary lymphedema','Disease','no definition available'),('79452','Milroy disease','Disease','Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.'),('79455','Cutaneous mastocytoma','Disease','Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.'),('79456','Diffuse cutaneous mastocytosis','Disease','Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ``peau d`orange`` appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).'),('79457','Maculopapular cutaneous mastocytosis','Disease','Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.'),('79458','Oley syndrome','Malformation syndrome','no definition available'),('79459','Follicular atrophoderma-basal cell carcinoma','Clinical subtype','no definition available'),('79466','Inflammatory linear verrucous epidermal nevus','Clinical subtype','no definition available'),('79467','Verrucous nevus','Clinical subtype','no definition available'),('79468','Acanthokeratolytic verrucous nevus','Clinical subtype','no definition available'),('79473','Porphyria variegata','Disease','Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.'),('79474','Atypical Werner syndrome','Disease','An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.'),('79476','Griscelli syndrome type 1','Clinical subtype','no definition available'),('79477','Griscelli syndrome type 2','Clinical subtype','no definition available'),('79478','Griscelli syndrome type 3','Clinical subtype','no definition available'),('79479','Pemphigus vegetans','Disease','no definition available'),('79480','Pemphigus erythematosus','Disease','A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.'),('79481','Pemphigus foliaceus','Disease','A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.'),('79482','Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome','Malformation syndrome','no definition available'),('79483','Phakomatosis cesioflammea','Clinical subtype','no definition available'),('79484','Phakomatosis cesiomarmorata','Clinical subtype','no definition available'),('79485','Phakomatosis spilorosea','Clinical subtype','no definition available'),('79486','Cystic hygroma','Malformation syndrome','no definition available'),('79489','Macrocystic lymphatic malformation','Malformation syndrome','A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.'),('79490','Microcystic lymphatic malformation','Malformation syndrome','A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.'),('79492','Pili gemini','Disease','Pili gemini defines a situation where the papilla`s tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.'),('79493','Brooke-Spiegler syndrome','Disease','A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas'),('79495','X-linked congenital generalized hypertrichosis','Clinical subtype','X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.'),('79499','Autosomal dominant deafness-onychodystrophy syndrome','Malformation syndrome','A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or asbent terminal phalanges.'),('795','Rare form of salmonellosis','Category','Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with Salmonella enterica typhoidal species (S. typhi and S. paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of S. typhimurium and S. enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly.'),('79500','DOORS syndrome','Malformation syndrome','A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.'),('79501','Punctate palmoplantar keratoderma type 1','Disease','Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..'),('79502','Punctate palmoplantar keratoderma type 2','Disease','Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (`spiny keratosis`) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.'),('79503','Ichthyosis hystrix of Curth-Macklin','Disease','Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).'),('79504','Ichthyosis hystrix gravior','Disease','no definition available'),('79506','Cholesterol-ester transfer protein deficiency','Disease','no definition available'),('79507','Hypotonia-failure to thrive-microcephaly syndrome','Disease','Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.'),('796','Sandhoff disease','Disease','Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.'),('79643','Autosomal recessive hyperinsulinism due to SUR1 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.'),('79644','Autosomal recessive hyperinsulinism due to Kir6.2 deficiency','Disease','A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated.'),('79651','Mild hyperphenylalaninemia','Clinical subtype','Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.'),('79665','Gardner syndrome','Clinical subtype','Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.'),('79669','Autoimmune bullous skin disease','Clinical group','no definition available'),('797','Sarcoidosis','Disease','A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.'),('798','Schinzel-Giedion syndrome','Malformation syndrome','Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.'),('799','Schizencephaly','Disease','A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.'),('8','47,XYY syndrome','Malformation syndrome','47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.'),('80','NON RARE IN EUROPE: Antiphospholipid syndrome','Disease','no definition available'),('800','Schwartz-Jampel syndrome','Disease','A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).'),('801','Scleroderma','Clinical group','Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms).'),('802','NON RARE IN EUROPE: Multiple sclerosis','Disease','no definition available'),('803','Amyotrophic lateral sclerosis','Disease','A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.'),('805','Tuberous sclerosis complex','Disease','Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.'),('806','Scott syndrome','Disease','Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.'),('807','Sebastian syndrome','Clinical subtype','no definition available'),('808','Seckel syndrome','Malformation syndrome','Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.'),('809','Mixed connective tissue disease','Disease','Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA).'),('81','Antisynthetase syndrome','Disease','A clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).'),('810','Shigellosis','Disease','Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.'),('811','Shwachman-Diamond syndrome','Disease','Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.'),('812','Sialidosis type 1','Disease','Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.'),('813','Silver-Russell syndrome','Disease','Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.'),('816','Sjögren-Larsson syndrome','Disease','A rare neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.'),('817','Peeling skin syndrome','Clinical group','Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.'),('818','Smith-Lemli-Opitz syndrome','Malformation syndrome','Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.'),('819','Smith-Magenis syndrome','Malformation syndrome','Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.'),('82','Hereditary thrombophilia due to congenital antithrombin deficiency','Disease','Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).'),('820','Sneddon syndrome','Disease','Sneddon`s syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.'),('82004','Ehlers-Danlos syndrome with periventricular heterotopia','Disease','no definition available'),('821','Sotos syndrome','Disease','Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.'),('822','Hereditary spherocytosis','Disease','Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.'),('823','Isolated spina bifida','Clinical group','A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic.'),('824','Primary myelofibrosis','Disease','A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.'),('825','NON RARE IN EUROPE: Ankylosing spondylitis','Disease','no definition available'),('826','Sporotrichosis','Disease','Sporotrichosis is an infection caused by the dimorphic fungus Sporothrix schenckii, generally occurring by traumatic inoculation of fungus from contaminated soil, plants, and organic matter, that has a highly variable disease spectrum but that usually presents as a subcutaneous mycosis with a single sporotrichotic chancre that may ulcerate and can then progress to lymphocutaneous (most common form; sporotrichotic chancre at inoculation site and a string of similar nodules along the proximal lymphatics), fixed cutaneous (localized asymptomatic, erythematous, papules at the inoculation site), or multifocal or disseminated cutaneous (rare form, with 3 or more lesions involving 2 different anatomical sites) forms. Pulmonary sporotrichosis occurs following inhalation of fungus and manifests as chronic pneumonitis while extracutaneous or systemic sporotrichosis (with osteoarticular, pulmonary, and central nervous system/meningeal disease) has also been reported, usually occurring in the setting of immunosuppression.'),('827','Stargardt disease','Disease','A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ``beaten bronze`` atrophic central macular lesion.'),('828','Stickler syndrome','Disease','Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases).'),('829','Adult-onset Still disease','Disease','A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.'),('83','Antley-Bixler syndrome','Malformation syndrome','A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.'),('830','NON RARE IN EUROPE: Stuccokeratosis','Disease','no definition available'),('83001','Urogenital tract malformation','Category','no definition available'),('831','Congenital cervical spinal stenosis','Disease','Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.'),('832','Succinyl-CoA:3-ketoacid CoA transferase deficiency','Disease','A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.'),('833','Encephalopathy due to sulfite oxidase deficiency','Disease','Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.'),('83311','Rocky Mountain spotted fever','Disease','A rare, acquired, life-threatening, infectious disease due to the tick-borne bacteria Rickettsia rickettsii characterized by an acute onset of fever, malaise, and severe headache, variably accompanied by myalgia, anorexia, nausea, vomiting, abdominal pain, and photophobia, associating (2-5 days after fever onset) a typically erythematous, blanching or non-blanching, maculopapluar rash with petechiae, starting on the wrists and ankles and progressing centrifugally to the palms and soles and centripetally to the arms, legs and trunk. Additonal variable features may include conjunctivitis, mucosal ulcers, post-inflammatory hyperpigmentation, jaundice, pneumonia, hepatomegaly, renal failure, meningismus, amnesia, optic disc edema, and ocular arterial occlusion.'),('83312','Rickettsialpox','Disease','A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria Rickettsia akari characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symtoms resolve within 6-10 days.'),('83313','Boutonneuse fever','Disease','A rare spotted fever rickettsiosis caused by infection with the tick-borne bacterium Rickettsia conorii, characterized by the onset of fever after an incubation period of about a week, followed by a centripetally spreading maculopapular rash, which may evolve into a petechial form. Accompanying symptoms are headaches, myalgia and/or arthralgia, among others. The typical ``tache noire`` may be observed at the site of the tick bite for several days. The disease is endemic in Africa, Southern Europe, and India.'),('83314','Epidemic typhus','Disease','A Rickettsial disease characterized by malaise and vague symptoms before the onset of high fever, headache, severe myalgias and less commonly petechial rash on the trunk and limbs, nausea, vomiting, coughing and pneumonia. Most patients also have some central nervous system disturbances, such as meningeal irritation, confusion, drowsiness, seizures, coma, and hearing loss.'),('83315','Murine typhus','Disease','A Rickettsial disease characterized by headache, fever and macular or maculopapular rash, with only one-third of patients manifesting all three symptoms. Other common symptoms are chills, malaise, stomach pain, myalgia, loss of appetite, and in some cases confusion and altered level of consciousness. Classical laboratory abnormalities include elevated liver enzymes, lactate dehydrogenase, erythrocyte sedimentation rate and hypoalbuminemia. In children, typical symptoms occur in only half of patients, and abdominal pain, diarrhea, sore throat and anemia are more common.'),('83316','Pseudotyphus of California','Disease','Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar, lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain). Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.'),('83317','Scrub typhus','Disease','Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.'),('83330','Proximal spinal muscular atrophy type 1','Clinical subtype','Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('834','Free sialic acid storage disease','Disease','Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).'),('83418','Proximal spinal muscular atrophy type 2','Clinical subtype','Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('83419','Proximal spinal muscular atrophy type 3','Clinical subtype','Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('83420','Proximal spinal muscular atrophy type 4','Clinical subtype','Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.'),('83449','NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome','Disease','no definition available'),('83450','Regional odontodysplasia','Disease','Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.'),('83451','Florid cemento-osseous dysplasia','Disease','Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.'),('83452','Complex regional pain syndrome','Disease','Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.'),('83453','Vulvovaginal gingival syndrome','Disease','A rare, non-malformative vulvovaginal disease characterized by a combination of erosive or desquamative lichen planus (LP) of vulval, vaginal and gingival mucosae, with a high propensity for scarring and stricture formation. Additional sites of involvement are frequently observed (in particular, tongue, buccal mucosae, skin and perianal LP). Patients may be asymptomatic or, more commonly, present with pain, burning, discomfort and bleeding, dyspareunia, and seropurulent vaginal discharge.'),('83454','Glomuvenous malformation','Malformation syndrome','Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.'),('83461','Congenital primary aphakia','Malformation syndrome','A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.'),('83463','Microtia','Morphological anomaly','A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.'),('83465','Narcolepsy type 2','Disease','A disorder that is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.'),('83467','Morvan syndrome','Disease','Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.'),('83468','Solitary bone cyst','Disease','A benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.'),('83469','Desmoplastic small round cell tumor','Disease','An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.'),('83471','Thymic aplasia','Disease','A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.'),('83472','CAMOS syndrome','Malformation syndrome','A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.'),('83473','Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome','Malformation syndrome','A syndrome that is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.'),('83476','West-Nile encephalitis','Disease','An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.'),('83482','Mycoplasma encephalitis','Disease','Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).'),('83483','La Crosse encephalitis','Disease','An acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.'),('83484','St. Louis encephalitis','Disease','An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, and characterized by the onset of flulike symptoms such as fever, malaise, headache, cough, and sore throat that can progress to meningitis or encephalitis with symptoms like nausea, vomiting, confusion, stiff neck, disorientation, irritability, tremors, and convulsions. Photophobia, cranial nerve palsies, and even coma may occur.'),('83593','Western equine encephalitis','Disease','An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.'),('83594','Eastern equine encephalitis','Disease','An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.'),('83595','Colorado tick fever','Disease','An acute arboviral infection caused by a Coltivirus transmitted by an infected tick and characterized by a biphasic fever with headache, myalgias, arthralgias, and fatigue that can last 3 weeks or more. In some cases, macular, maculopapular, or petechial rash and/or stiff neck, nausea, vomiting, abdominal pain, diarrhea, and sore throat may also occur.'),('83597','Acute disseminated encephalomyelitis','Disease','A demyelinating disorder of the central nervous system.'),('83600','Encephalitis lethargica','Disease','A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism.'),('83601','Steroid-responsive encephalopathy associated with autoimmune thyroiditis','Disease','Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations.'),('83616','Rubella panencephalitis','Disease','A rare chronic encephalitis developing up to several years after congenital rubella virus infection or rubella infection in childhood, characterized by slowly progressive, wide-spread neurological symptoms, like cognitive decline, cerebellar ataxia, spasticity, and seizures, amongst others. Progredient deterioration of the neurological disease eventually leads to the death of the patient.'),('83617','Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome','Malformation syndrome','A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.'),('83618','Severe dilated cardiomyopathy due to lamin A/C mutation','Disease','no definition available'),('83619','Macrostomia-preauricular tags-external ophthalmoplegia syndrome','Malformation syndrome','A syndrome that combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.'),('83620','Enteric anendocrinosis','Disease','A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.'),('83628','LUMBAR syndrome','Malformation syndrome','A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.'),('83629','Leukoencephalopathy-spondylometaphyseal dysplasia syndrome','Disease','A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.'),('83639','Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency','Disease','A syndrome with combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.'),('83642','Microcytic anemia with liver iron overload','Disease','A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.'),('83648','OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome','Disease','no definition available'),('838','Susac syndrome','Disease','A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.'),('839','Congenital nephrotic syndrome, Finnish type','Disease','A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting in utero or during the first 3 months of life.'),('84','Fanconi anemia','Malformation syndrome','Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.'),('840','Syringocystadenoma papilliferum','Disease','A rare non-malignant adnexal sweat gland neoplasm characterized by asymptomatic, skin-colored to pink papules or plaques with a highly variable appearance, most commonly in the head and neck area.'),('84064','Syndromic diarrhea','Disease','A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.'),('84065','Idiopathic malabsorption due to bile acid synthesis defects','Disease','A dirsorder that is due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.'),('84081','Senior-Boichis syndrome','Disease','A syndrome that consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.'),('84085','Hinman syndrome','Disease','Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.'),('84087','Collagen type III glomerulopathy','Disease','Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases, progression to end-stage renal failure is observed.'),('84090','Fibronectin glomerulopathy','Disease','A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.'),('84093','Hereditary thermosensitive neuropathy','Disease','Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.'),('84096','OBSOLETE: Unknown leukodystrophy','Disease','no definition available'),('841','Sebocystomatosis','Disease','Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.'),('84132','Desmin-related myopathy with Mallory body-like inclusions','Disease','no definition available'),('84142','Isaac syndrome','Disease','Isaac`s syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.'),('842','Testicular seminomatous germ cell tumor','Disease','Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.'),('84271','Sporadic idiopathic steroid-resistant nephrotic syndrome','Clinical syndrome','no definition available'),('844','Lown-Ganong-Levine syndrome','Disease','Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).'),('845','Tay-Sachs disease','Disease','A rare disorder characterized by accumulation of G2 gangliosides due to hexosaminidase A deficiency.'),('846','Alpha-thalassemia','Disease','An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.'),('847','Alpha-thalassemia-X-linked intellectual disability syndrome','Disease','X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.'),('848','Beta-thalassemia','Disease','Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).'),('849','Glanzmann thrombasthenia','Disease','Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.'),('85','Congenital dyserythropoietic anemia','Clinical group','Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms).'),('850','May-Hegglin thrombocytopenia','Clinical subtype','no definition available'),('851','Paris-Trousseau thrombocytopenia','Disease','Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.'),('85102','Perineurioma','Clinical group','no definition available'),('85110','Familial encephalopathy with neuroserpin inclusion bodies','Disease','A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).'),('85112','Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome','Disease','Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.'),('85128','Bothnia retinal dystrophy','Disease','Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.'),('85136','Cystic leukoencephalopathy without megalencephaly','Disease','Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.'),('85138','Addison disease','Disease','A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).'),('85142','NON RARE IN EUROPE: Aldosterone-producing adenoma','Disease','no definition available'),('85146','Neurogenic scapuloperoneal syndrome, Kaeser type','Disease','A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.'),('85162','Facial onset sensory and motor neuronopathy','Disease','Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.'),('85163','Hypomyelination-congenital cataract syndrome','Malformation syndrome','Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.'),('85164','Camptodactyly-tall stature-scoliosis-hearing loss syndrome','Disease','Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.'),('85165','Severe achondroplasia-developmental delay-acanthosis nigricans syndrome','Disease','Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).'),('85166','Platyspondylic dysplasia, Torrance type','Malformation syndrome','Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.'),('85167','Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome','Disease','Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.'),('85168','Craniofacial conodysplasia','Malformation syndrome','Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.'),('85169','Familial digital arthropathy-brachydactyly','Malformation syndrome','Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.'),('85170','Mesomelic dysplasia, Savarirayan type','Malformation syndrome','Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.'),('85172','Microcephalic osteodysplastic dysplasia, Saul-Wilson type','Disease','Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).'),('85173','IMAGe syndrome','Malformation syndrome','IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.'),('85174','Pseudodiastrophic dysplasia','Malformation syndrome','Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.'),('85175','Astley-Kendall dysplasia','Malformation syndrome','A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.'),('85179','Infantile osteopetrosis with neuroaxonal dysplasia','Malformation syndrome','This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.'),('85182','Diaphyseal medullary stenosis-bone malignancy syndrome','Disease','Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).'),('85184','Craniometadiaphyseal dysplasia, wormian bone type','Malformation syndrome','Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.'),('85186','Endosteal sclerosis-cerebellar hypoplasia syndrome','Malformation syndrome','Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.'),('85188','Metaphyseal dysplasia, Braun-Tinschert type','Malformation syndrome','Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an `Erlenmeyer flask`` appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.'),('85191','Singleton-Merten dysplasia','Malformation syndrome','Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).'),('85192','Calvarial doughnut lesions-bone fragility syndrome','Malformation syndrome','This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.'),('85193','Idiopathic juvenile osteoporosis','Malformation syndrome','Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.'),('85194','Spondylo-ocular syndrome','Malformation syndrome','Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.'),('85195','Familial expansile osteolysis','Disease','A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.'),('85196','Nodulosis-arthropathy-osteolysis syndrome','Clinical subtype','no definition available'),('85197','Genochondromatosis type 1','Disease','Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.'),('85198','Dysspondyloenchondromatosis','Malformation syndrome','Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.'),('85199','Craniosynostosis-anal anomalies-porokeratosis syndrome','Malformation syndrome','Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).'),('852','X-linked thrombocytopenia with normal platelets','Etiological subtype','no definition available'),('85200','Ischiovertebral syndrome','Malformation syndrome','Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.'),('85201','Genitopatellar syndrome','Malformation syndrome','Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.'),('85202','Keutel syndrome','Malformation syndrome','Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.'),('85203','Acropectoral syndrome','Malformation syndrome','A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.'),('85212','Fetal Gaucher disease','Clinical subtype','Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).'),('85273','X-linked intellectual disability, Abidi type','Malformation syndrome','X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.'),('85274','Syndromic X-linked intellectual disability 7','Malformation syndrome','A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional varible manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength.'),('85275','Microphthalmia-ankyloblepharon-intellectual disability syndrome','Malformation syndrome','Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.'),('85276','X-linked intellectual disability, Armfield type','Malformation syndrome','X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.'),('85277','X-linked intellectual disability, Cantagrel type','Malformation syndrome','X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.'),('85278','Christianson syndrome','Malformation syndrome','A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.'),('85279','Syndromic X-linked intellectual disability due to JARID1C mutation','Malformation syndrome','Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.'),('85280','X-linked intellectual disability-cubitus valgus-dysmorphism syndrome','Malformation syndrome','X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.'),('85281','MECP2 duplication syndrome','Malformation syndrome','no definition available'),('85282','MEHMO syndrome','Malformation syndrome','MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.'),('85283','X-linked intellectual disability, Miles-Carpenter type','Malformation syndrome','X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.'),('85284','BRESEK syndrome','Malformation syndrome','X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).'),('85285','X-linked intellectual disability, Schimke type','Malformation syndrome','X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.'),('85286','X-linked intellectual disability, Shashi type','Malformation syndrome','X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.'),('85287','X-linked intellectual disability, Siderius type','Malformation syndrome','X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.'),('85288','X-linked intellectual disability, Stocco Dos Santos type','Malformation syndrome','X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.'),('85289','X-linked intellectual disability, Vitale type','Malformation syndrome','no definition available'),('85290','X-linked intellectual disability, Wilson type','Malformation syndrome','X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.'),('85291','X-linked intellectual disability, Wittwer type','Malformation syndrome','no definition available'),('85292','X-linked spinocerebellar ataxia type 4','Disease','Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.'),('85293','X-linked intellectual disability, Cabezas type','Malformation syndrome','An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.'),('85294','X-linked epilepsy-learning disabilities-behavior disorders syndrome','Disease','X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).'),('85295','HSD10 disease, atypical type','Clinical subtype','no definition available'),('85297','X-linked spinocerebellar ataxia type 3','Malformation syndrome','X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.'),('853','Fetal and neonatal alloimmune thrombocytopenia','Disease','Foetal/neonatal alloimmune thrombocytopaenia (NAIT) results from maternal alloimmunisation against foetal platelet antigens inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopaenia in otherwise healthy newborns.'),('85317','X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome','Malformation syndrome','X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.'),('85318','OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome','Malformation syndrome','no definition available'),('85319','X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome','Malformation syndrome','X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.'),('85320','X-linked intellectual disability-macrocephaly-macroorchidism syndrome','Malformation syndrome','An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.'),('85321','Deafness-intellectual disability syndrome, Martin-Probst type','Malformation syndrome','Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.'),('85322','X-linked intellectual disability, Pai type','Malformation syndrome','X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.'),('85323','X-linked intellectual disability, Seemanova type','Disease','X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.'),('85324','X-linked intellectual disability, Shrimpton type','Malformation syndrome','An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.'),('85325','X-linked intellectual disability, Stevenson type','Malformation syndrome','X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.'),('85326','X-linked intellectual disability, Stoll type','Malformation syndrome','X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.'),('85327','X-linked intellectual disability-acromegaly-hyperactivity syndrome','Disease','X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.'),('85328','X-linked intellectual disability, Turner type','Malformation syndrome','X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.'),('85329','X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome','Malformation syndrome','X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.'),('85330','X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome','Disease','no definition available'),('85331','OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome','Disease','no definition available'),('85332','X-linked intellectual disability-retinitis pigmentosa syndrome','Disease','X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.'),('85333','X-linked intellectual disability-spastic paraplegia with iron deposits syndrome','Disease','no definition available'),('85334','X-linked neurodegenerative syndrome, Bertini type','Disease','An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.'),('85335','Fried syndrome','Malformation syndrome','Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.'),('85336','X-linked neurodegenerative syndrome, Hamel type','Disease','An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.'),('85337','X-linked intellectual disability, Zorick type','Disease','no definition available'),('85338','X-linked intellectual disability-ataxia-apraxia syndrome','Disease','A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.'),('854','Primitive portal vein thrombosis','Clinical syndrome','Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.'),('85408','Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis','Disease','A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.'),('85410','Oligoarticular juvenile idiopathic arthritis','Disease','A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.'),('85414','Systemic-onset juvenile idiopathic arthritis','Disease','Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.'),('85435','Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis','Disease','A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.'),('85436','Psoriasis-related juvenile idiopathic arthritis','Disease','Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.'),('85438','Enthesitis-related juvenile idiopathic arthritis','Disease','Enthesitis-related arthritis is a type of juvenile idiopathic arthritis (JIA) that represents the paediatric form of spondylarthropathy in adults.'),('85442','Short stature-pituitary and cerebellar defects-small sella turcica syndrome','Disease','Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).'),('85443','AL amyloidosis','Disease','A plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.'),('85445','AA amyloidosis','Disease','Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.'),('85446','Wild type ABeta2M amyloidosis','Disease','Dialysis-related amyloidosis (DRA), is a type of amyloidosis (see this term) affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (β2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.'),('85447','ATTRV30M amyloidosis','Disease','Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.'),('85448','AGel amyloidosis','Disease','A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.'),('85450','Hereditary amyloidosis with primary renal involvement','Disease','A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.'),('85451','ATTRV122I amyloidosis','Disease','Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.'),('85453','X-linked reticulate pigmentary disorder','Disease','X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.'),('85458','Hereditary cerebral hemorrhage with amyloidosis','Disease','Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.'),('855','NON RARE IN EUROPE: Hashimoto thyroiditis','Disease','no definition available'),('856','NON RARE IN EUROPE: Tourette syndrome','Disease','no definition available'),('857','Townes-Brocks syndrome','Malformation syndrome','A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.'),('858','Congenital toxoplasmosis','Disease','A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primo-infection by Toxoplasma gondii (Tg).'),('859','Transcobalamin deficiency','Disease','Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.'),('86','Familial abdominal aortic aneurysm','Disease','no definition available'),('860','Congenitally uncorrected transposition of the great arteries','Morphological anomaly','Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.'),('861','Treacher-Collins syndrome','Malformation syndrome','Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.'),('862','NON RARE IN EUROPE: Hereditary essential tremor','Disease','no definition available'),('863','Trichinellosis','Disease','Trichinellosis is a zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.'),('86309','DPAGT1-CDG','Disease','DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).'),('864','Trichofolliculoma','Disease','A rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.'),('867','Familial multiple trichoepithelioma','Clinical subtype','no definition available'),('86788','X-linked severe congenital neutropenia','Disease','X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.'),('86789','Patella aplasia/hypoplasia','Morphological anomaly','Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.'),('86795','Localized lichen myxedematosus','Clinical group','Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.'),('86797','Atypical lichen myxedematosus','Disease','An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.'),('868','Triose phosphate-isomerase deficiency','Disease','Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.'),('86812','POMT1-related limb-girdle muscular dystrophy R11','Disease','A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.'),('86813','Helicoid peripapillary chorioretinal degeneration','Disease','Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.'),('86814','Benign adult familial myoclonic epilepsy','Disease','Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.'),('86815','Aplasia of lacrimal and salivary glands','Disease','A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.'),('86816','Congenital analbuminemia','Disease','Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).'),('86817','Hemolytic anemia due to adenylate kinase deficiency','Disease','Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.'),('86818','Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome','Disease','A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.'),('86819','Atrichia with papular lesions','Disease','A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.'),('86820','Familial avascular necrosis of femoral head','Disease','Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.'),('86821','Lissencephaly type 3-familial fetal akinesia sequence syndrome','Malformation syndrome','Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).'),('86822','Lissencephaly type 3-metacarpal bone dysplasia syndrome','Malformation syndrome','This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).'),('86823','Lissencephaly with cerebellar hypoplasia','Clinical group','Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.'),('86829','Chronic neutrophilic leukemia','Disease','no definition available'),('86830','Chronic myeloproliferative disease, unclassifiable','Disease','Chronic myeloproliferative disease, unclassifiable is a hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.'),('86834','Juvenile myelomonocytic leukemia','Disease','no definition available'),('86836','Refractory cytopenia with multilineage dysplasia','Clinical group','Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS; see this term) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.'),('86839','Refractory anemia with excess blasts','Disease','Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood.'),('86841','Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality','Disease','no definition available'),('86843','Acute panmyelosis with myelofibrosis','Disease','no definition available'),('86845','Acute myeloid leukaemia with myelodysplasia-related features','Disease','no definition available'),('86846','Therapy related acute myeloid leukemia and myelodysplastic syndrome','Category','no definition available'),('86849','Acute basophilic leukemia','Disease','no definition available'),('86850','Myeloid sarcoma','Disease','Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.'),('86851','Acute leukemia of ambiguous lineage','Category','no definition available'),('86852','B-cell prolymphocytic leukemia','Disease','no definition available'),('86854','Splenic marginal zone lymphoma','Disease','Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.'),('86855','Plasmacytoma','Disease','Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.'),('86861','Non-amyloid monoclonal immunoglobulin deposition disease','Disease','A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin.'),('86864','Heavy chain disease','Disease','Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.'),('86867','Nodal marginal zone B-cell lymphoma','Disease','Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.'),('86869','Lymphomatoid granulomatosis','Disease','Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.'),('86870','CD4+/CD56+ hematodermic neoplasm','Disease','no definition available'),('86871','T-cell prolymphocytic leukemia','Disease','no definition available'),('86872','T-cell large granular lymphocyte leukemia','Disease','T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.'),('86873','Aggressive NK-cell leukemia','Disease','An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation.'),('86875','Adult T-cell leukemia/lymphoma','Disease','A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor αβ. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.'),('86879','Extranodal nasal NK/T cell lymphoma','Disease','Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.'),('86880','Enteropathy-associated T-cell lymphoma','Disease','no definition available'),('86882','Hepatosplenic T-cell lymphoma','Disease','no definition available'),('86884','Subcutaneous panniculitis-like T-cell lymphoma','Disease','Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.'),('86885','Primary cutaneous peripheral T-cell lymphoma not otherwise specified','Disease','An extremely rare, primary cutaneous T-cell lymphoma disorder characterized by solitary, or multifocal and diffuse, cutaneous lesions, ranging from tumor-like patches, plaques, papules, nodules, and/or erythroderma, located on any area of the body, which rapidly progress and may become ulcerated and/or infected. Systemic involvement may be associated.'),('86886','Angioimmunoblastic T-cell lymphoma','Disease','no definition available'),('86893','Nodular lymphocyte predominant Hodgkin lymphoma','Disease','Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells.'),('86896','Histiocytic sarcoma','Disease','no definition available'),('86897','Langerhans cell sarcoma','Disease','no definition available'),('869','Triple A syndrome','Disease','Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.'),('86900','Interdigitating dendritic cell sarcoma','Disease','no definition available'),('86902','Follicular dendritic cell sarcoma','Disease','no definition available'),('86903','Dendritic cell sarcoma not otherwise specified','Disease','no definition available'),('86904','Methotrexate-associated lymphoproliferative disorders','Disease','Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.'),('86906','Hypothalamic hamartomas with gelastic seizures','Disease','Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.'),('86908','Idiopathic hemiconvulsion-hemiplegia syndrome','Disease','A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.'),('86909','Myoclonic epilepsy of infancy','Disease','A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients.'),('86911','Epilepsy with myoclonic absences','Disease','A rare childhood-onset epilepsy syndrome characterized by sudden onset of staring and unresponsiveness, in association with rhythmical myoclonic jerks predominantly involving the superior upper limbs and leading to typical raising of the arms and shoulders. Ictal EEG shows bilateral, synchronous, symmetric 3-Hz spike-wave discharges. Other types of seizures (e. g. generalized tonic-clonic seizures) are often associated. Additional symptoms may include intellectual disability.'),('86913','Myoclonic epilepsy in non-progressive encephalopathies','Malformation syndrome','Myoclonic epilepsy in non-progressive encephalopathies is a rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.'),('86914','Lymphedema-cerebral arteriovenous anomaly syndrome','Malformation syndrome','Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.'),('86915','Lymphedema-atrial septal defects-facial changes syndrome','Malformation syndrome','Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.'),('86917','OBSOLETE: Lymphedema-cleft palate syndrome','Malformation syndrome','no definition available'),('86918','Diffuse palmoplantar keratoderma-acrocyanosis syndrome','Disease','Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.'),('86919','Keratosis palmaris et plantaris-clinodactyly syndrome','Disease','Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.'),('86920','Dermatopathia pigmentosa reticularis','Disease','A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.'),('86923','Hereditary palmoplantar keratoderma, Gamborg-Nielsen type','Disease','Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma (see these terms). Transmission is autosomal recessive.'),('87','Apert syndrome','Malformation syndrome','A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.'),('870','Down syndrome','Malformation syndrome','A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.'),('871','Familial progressive cardiac conduction defect','Disease','A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.'),('872','OBSOLETE: Disorder in the hormonal synthesis with or without goiter','Clinical group','no definition available'),('87277','Rare intellectual disability','Category','no definition available'),('873','Desmoid tumor','Disease','A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.'),('874','Primary adult heart tumor','Disease','A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma.'),('875','Primary pediatric heart tumor','Disease','Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.'),('87503','Mal de Meleda','Disease','Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.'),('876','Yolk sac tumor','Disease','no definition available'),('877','Neuroendocrine neoplasm','Category','Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).'),('87876','Sialidosis type 2','Disease','Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.'),('87884','Non-syndromic genetic deafness','Disease','Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin.'),('879','Tungiasis','Disease','Tungiasis is a parasitic skin disease caused by the female sand flea Tunga penetrans. The disease is characterized by acute (multiple white, gray, or yellowish papular or nodular lesions with brown-black-colored opening at the center and peripheral erythema) and chronic inflammation in the feet with itchy/ painful lesions. Bacterial superinfection is common and result in debilitating clinical pathology (deep ulcers, gangrene, lymphangitis and septicemia), leading to impaired physical fitness and mobility. Tungiasis also involves hyperkeratosis, fissuration, nail hypertrophy, and loss of nails.'),('88','Idiopathic aplastic anemia','Disease','no definition available'),('881','Turner syndrome','Malformation syndrome','Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.'),('882','Tyrosinemia type 1','Disease','Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.'),('883','Extragonadal teratoma','Disease','Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.'),('884','Tetrasomy 12p','Malformation syndrome','Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.'),('886','Usher syndrome','Disease','Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.'),('88616','Autosomal recessive non-syndromic intellectual disability','Etiological subtype','no definition available'),('88618','Psychomotor delay due to S-adenosylhomocysteine hydrolase deficiency','Disease','A rare, genetic, inborn error of metabolism disorder characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. Epidemiology'),('88619','Familial acute necrotizing encephalopathy','Disease','Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.'),('88620','Isolated congenital anosmia','Disease','This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).'),('88621','Ichthyosis-prematurity syndrome','Disease','Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.'),('88628','Posterior column ataxia-retinitis pigmentosa syndrome','Disease','Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.'),('88629','Tritanopia','Disease','Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.'),('88630','Terminal osseous dysplasia-pigmentary defects syndrome','Malformation syndrome','Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.'),('88632','Anterior segment developmental anomaly','Category','no definition available'),('88633','Superior limbic keratoconjunctivitis','Disease','no definition available'),('88635','Vacuolar myopathy with sarcoplasmic reticulum protein aggregates','Disease','A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.'),('88636','Aortic dilatation-joint hypermobility-arterial tortuosity syndrome','Disease','no definition available'),('88637','Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome','Clinical subtype','no definition available'),('88639','Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency','Disease','Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.'),('88642','Channelopathy-associated congenital insensitivity to pain','Disease','no definition available'),('88643','Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome','Disease','Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.'),('88644','Autosomal recessive ataxia, Beauce type','Disease','A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.'),('88659','Autosomal dominant progressive nephropathy with hypertension','Disease','A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.'),('88660','Hypertension due to gain-of-function mutations in the mineralocorticoid receptor','Disease','Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.'),('88661','Amelogenesis imperfecta','Disease','A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.'),('88673','Hepatocellular carcinoma','Clinical group','Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.'),('887','VACTERL/VATER association','Malformation syndrome','VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.'),('888','Van der Woude syndrome','Malformation syndrome','Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.'),('889','Cutaneous small vessel vasculitis','Disease','Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.'),('88917','X-linked Alport syndrome','Clinical subtype','no definition available'),('88918','Autosomal dominant Alport syndrome','Clinical subtype','no definition available'),('88919','Autosomal recessive Alport syndrome','Clinical subtype','no definition available'),('88924','Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis','Disease','Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).'),('88938','Pseudohypoaldosteronism type 2A','Etiological subtype','no definition available'),('88939','Pseudohypoaldosteronism type 2B','Etiological subtype','no definition available'),('88940','Pseudohypoaldosteronism type 2C','Etiological subtype','no definition available'),('88949','MUC1-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','no definition available'),('88950','UMOD-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','no definition available'),('88991','Rare congenital non-syndromic heart malformation','Category','no definition available'),('88993','Esophageal malformation','Category','no definition available'),('890','Hepatic veno-occlusive disease','Disease','Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.'),('89043','Rare dementia','Category','no definition available'),('891','Familial exudative vitreoretinopathy','Disease','Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.'),('892','Von Hippel-Lindau disease','Disease','Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.'),('893','WAGR syndrome','Malformation syndrome','A rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.'),('894','Waardenburg syndrome type 1','Clinical subtype','A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.'),('895','Waardenburg syndrome type 2','Clinical subtype','An autosomal dominant subtype of Waardenburg syndrome (WS) characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.'),('896','Waardenburg syndrome type 3','Clinical subtype','A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.'),('897','Waardenburg-Shah syndrome','Disease','Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).'),('898','Wagner disease','Disease','Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.'),('89826','Rare skin disease','Category','no definition available'),('89832','OBSOLETE: Syndromic lymphedema','Category','no definition available'),('89833','Palmoplantar keratoderma with tonotubular keratin','Disease','no definition available'),('89838','Epidermolysis bullosa simplex, autosomal recessive K14','Disease','Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.'),('89839','Epidermolysis bullosa simplex superficialis','Disease','Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters.'),('89840','Junctional epidermolysis bullosa, non-Herlitz type','Disease','Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.'),('89841','Centripetalis recessive dystrophic epidermolysis bullosa','Disease','Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk.'),('89842','Recessive dystrophic epidermolysis bullosa, generalized intermediate','Disease','Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.'),('89843','Dystrophic epidermolysis bullosa pruriginosa','Disease','Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.'),('89844','Lissencephaly syndrome, Norman-Roberts type','Clinical subtype','Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.'),('89845','OBSOLETE: Idiopathic hydrops fetalis','Disease','no definition available'),('899','Walker-Warburg syndrome','Disease','Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.'),('89936','X-linked hypophosphatemia','Disease','X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.'),('89937','Autosomal dominant hypophosphatemic rickets','Disease','A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.'),('89938','Infantile Bartter syndrome with sensorineural deafness','Clinical subtype','Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome (see this term) is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.'),('89939','NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis','Disease','no definition available'),('9','Tetrasomy X','Malformation syndrome','Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).'),('90','Argininemia','Disease','A rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.'),('900','Granulomatosis with polyangiitis','Disease','A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia.'),('90000','Erythema elevatum diutinum','Disease','Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.'),('90001','X-linked cone dysfunction syndrome with myopia','Disease','X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.'),('90002','Undifferentiated connective tissue syndrome','Disease','no definition available'),('90003','Inflammatory pseudotumor of the liver','Disease','Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.'),('90020','Amyotrophic lateral sclerosis-parkinsonism-dementia complex','Disease','no definition available'),('90021','Radiation myelitis','Disease','Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered.'),('90022','OBSOLETE: Cardiomyopathy-renal anomalies syndrome','Malformation syndrome','no definition available'),('90023','Primary immunodeficiency syndrome due to LAMTOR2 deficiency','Disease','Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.'),('90024','Deafness with labyrinthine aplasia, microtia, and microdontia','Malformation syndrome','Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.'),('90025','Non-syndromic syndactyly','Category','no definition available'),('90026','Primary erythromelalgia','Disease','Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.'),('90030','Hemolytic anemia due to glutathione reductase deficiency','Disease','Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.'),('90031','Non-spherocytic hemolytic anemia due to hexokinase deficiency','Disease','Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in HK1, the gene that encodes red blood cell-specific hexokinase-R.'),('90033','Autoimmune hemolytic anemia, warm type','Disease','Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C).'),('90035','Paroxysmal cold hemoglobinuria','Disease','Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.'),('90036','Mixed-type autoimmune hemolytic anemia','Disease','Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.'),('90037','Drug-induced autoimmune hemolytic anemia','Disease','Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.'),('90038','Shiga toxin-associated hemolytic uremic syndrome','Clinical subtype','Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.'),('90039','Hemoglobin D disease','Disease','Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).'),('90041','Gaisböck syndrome','Disease','Gaisbock syndrome is characterised by secondary polycythemia.'),('90042','Primary familial polycythemia','Disease','Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.'),('90044','Familial pseudohyperkalemia','Disease','Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.'),('90045','Hereditary folate malabsorption','Disease','Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.'),('90050','Retinopathy of prematurity','Disease','A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.'),('90051','Sepsis in premature infants','Particular clinical situation in a disease or syndrome','no definition available'),('90052','Recurrent hepatitis C virus induced liver disease in liver transplant recipients','Particular clinical situation in a disease or syndrome','no definition available'),('90053','Complications after hematopoietic stem cell transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('90055','OBSOLETE: Rejection after corneal transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('90056','Moderate and severe traumatic brain injury','Particular clinical situation in a disease or syndrome','no definition available'),('90058','Spinal cord injury','Particular clinical situation in a disease or syndrome','no definition available'),('90059','Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma','Particular clinical situation in a disease or syndrome','no definition available'),('90060','Diffuse alveolar hemorrhage','Clinical syndrome','A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.'),('90061','Non-infectious posterior uveitis','Category','no definition available'),('90062','Acute liver failure','Clinical syndrome','no definition available'),('90064','Acute peripheral arterial occlusion','Particular clinical situation in a disease or syndrome','no definition available'),('90065','Acquired aneurysmal subarachnoid hemorrhage','Particular clinical situation in a disease or syndrome','A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.'),('90066','Pneumonia caused by Pseudomonas aeruginosa infection','Particular clinical situation in a disease or syndrome','no definition available'),('90068','Cocaine intoxication','Disease','A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.'),('90069','Systemic monochloroacetate poisoning','Disease','Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.'),('90070','OBSOLETE: Methotrexate poisoning','Particular clinical situation in a disease or syndrome','no definition available'),('90073','Hepatitis B reinfection following liver transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('90076','Partial deep dermal and full thickness burns','Particular clinical situation in a disease or syndrome','no definition available'),('90077','Other acquired skin disease','Category','no definition available'),('90078','Invasive infections due to vancomycin-resistant enterococci','Particular clinical situation in a disease or syndrome','no definition available'),('90079','OBSOLETE: Anthracycline extravasation','Particular clinical situation in a disease or syndrome','no definition available'),('90080','Scarring in glaucoma filtration surgical procedures','Particular clinical situation in a disease or syndrome','no definition available'),('90081','AIDS wasting syndrome','Particular clinical situation in a disease or syndrome','no definition available'),('901','Wells syndrome','Disease','Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.'),('90103','Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome','Malformation syndrome','Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.'),('90114','Autosomal dominant intermediate Charcot-Marie-Tooth disease','Clinical group','no definition available'),('90117','Hereditary motor and sensory neuropathy, Okinawa type','Disease','Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.'),('90118','Severe early-onset axonal neuropathy due to MFN2 deficiency','Disease','Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.'),('90119','Hereditary motor and sensory neuropathy with acrodystrophy','Disease','Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.'),('90120','Hereditary motor and sensory neuropathy type 6','Disease','A rare axonal hereditary motor and sensoy neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.'),('90153','Mandibuloacral dysplasia with type A lipodystrophy','Clinical subtype','no definition available'),('90154','Mandibuloacral dysplasia with type B lipodystrophy','Clinical subtype','no definition available'),('90156','Centrifugal lipodystrophy','Disease','Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.'),('90157','Drug-induced localized lipodystrophy','Disease','Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.'),('90158','Idiopathic localized lipodystrophy','Disease','Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).'),('90159','Panniculitis-induced localized lipodystrophy','Disease','Panniculitis-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy disorder characterized by eruption of tender, occasionally painful, erythematous nodules and plaques which enlarge radially and resolve into lipoatrophic lesions, often located in the upper and lower limbs. Histologically, lesions are characterized by lipophagic, lobular panniculitis and absence of vasculitis.'),('90160','Pressure-induced localized lipoatrophy','Disease','Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.'),('90185','Non-hereditary late-onset primary lymphedema','Disease','no definition available'),('90186','Meige disease','Disease','Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.'),('902','Werner syndrome','Disease','Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.'),('90280','Chilblain lupus','Disease','A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.'),('90281','Discoid lupus erythematosus','Disease','no definition available'),('90282','Hypertrophic or verrucous lupus erythematosus','Disease','Hypertrophic or verrucous lupus erythematosus is a rare type of chronic cutaneous lupus erythematosus characterized by the appearance of lesions on sun-exposed areas (frequently the extensor surfaces of forearms, face, upper trunk) which vary from squamous violet, painful papules and blackish hyperkeratotic ulcers to depigmented atrophic plaques on the back, hyperkeratotic papules on upper extremities, and disseminated keratoacanthoma-like papulonodular verrucous lesions. Classic discoid lesions and squamous cell carcinoma may be associated. Histopathology reveals follicular plugging, liquefactive basal layer degeneration and a perivascular lymphocytic infiltrate.'),('90283','Lupus erythematosus tumidus','Disease','no definition available'),('90285','Lupus erythematosus panniculitis','Disease','no definition available'),('90287','OBSOLETE: Maculopapular lupus rash','Disease','no definition available'),('90289','Localized scleroderma','Disease','Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.'),('90290','CREST syndrome','Clinical subtype','no definition available'),('90291','Systemic sclerosis','Disease','Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).'),('903','Von Willebrand disease','Disease','von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N; see these terms).'),('90301','Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome','Disease','This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.'),('90307','Parkes Weber syndrome','Clinical subtype','no definition available'),('90308','Klippel-Trénaunay syndrome','Clinical subtype','no definition available'),('90309','OBSOLETE: Ehlers-Danlos syndrome type 1','Etiological subtype','no definition available'),('90318','OBSOLETE: Ehlers-Danlos syndrome type 2','Etiological subtype','no definition available'),('90321','Cockayne syndrome type 1','Clinical subtype','no definition available'),('90322','Cockayne syndrome type 2','Clinical subtype','no definition available'),('90324','Cockayne syndrome type 3','Clinical subtype','no definition available'),('90338','Margarita island ectodermal dysplasia','Malformation syndrome','no definition available'),('90339','OBSOLETE: Rosselli-Gulienetti syndrome','Malformation syndrome','no definition available'),('90340','Blau syndrome','Disease','Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.'),('90341','Early-onset sarcoidosis','Disease','no definition available'),('90342','Xeroderma pigmentosum variant','Disease','Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.'),('90345','OBSOLETE: Unclassified metaphyseal chondrodysplasia','Disease','no definition available'),('90348','Autosomal dominant cutis laxa','Disease','A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.'),('90349','Autosomal recessive cutis laxa type 1','Disease','A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).'),('90350','Autosomal recessive cutis laxa type 2','Clinical group','A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).'),('90354','Brittle cornea syndrome','Disease','A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.'),('90362','Primary intestinal lymphangiectasia','Disease','A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children.'),('90363','Secondary intestinal lymphangiectasia','Disease','Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.'),('90368','Hypotrichosis simplex of the scalp','Disease','Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.'),('90389','Telangiectasia macularis eruptiva perstans','Clinical subtype','no definition available'),('90390','Anonychia-onychodystrophy syndrome','Clinical subtype','no definition available'),('90393','Nodular lichen myxedematosus','Disease','Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.'),('90394','Discrete papular lichen myxedematosus','Disease','Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.'),('90395','Papular mucinosis of infancy','Disease','Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.'),('90396','Acral persistent papular mucinosis','Disease','A rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.'),('90397','Self-healing papular mucinosis','Disease','Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.'),('90398','Localized lichen myxedematosus with mixed features of different subtypes','Clinical subtype','Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus (see this term), characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM (see these terms).'),('90399','Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms','Clinical subtype','Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus (see this term), characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus (see these terms); a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.'),('904','Williams syndrome','Malformation syndrome','A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity).'),('90400','Scleromyxedema without monoclonal gammopathy','Clinical subtype','Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus (see this term), characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.'),('905','Wilson disease','Disease','Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.'),('906','Wiskott-Aldrich syndrome','Disease','A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.'),('90625','X-linked non-syndromic sensorineural deafness type DFN','Etiological subtype','no definition available'),('90635','Autosomal dominant non-syndromic sensorineural deafness type DFNA','Etiological subtype','no definition available'),('90636','Autosomal recessive non-syndromic sensorineural deafness type DFNB','Etiological subtype','no definition available'),('90641','Mitochondrial non-syndromic sensorineural deafness','Etiological subtype','no definition available'),('90642','Syndromic genetic deafness','Category','no definition available'),('90646','Deafness-hypogonadism syndrome','Malformation syndrome','This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior.'),('90647','Jervell and Lange-Nielsen syndrome','Disease','Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.'),('90649','Orofaciodigital syndrome type 7','Malformation syndrome','no definition available'),('90650','Otopalatodigital syndrome type 1','Malformation syndrome','A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.'),('90652','Otopalatodigital syndrome type 2','Malformation syndrome','A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.'),('90653','Stickler syndrome type 1','Clinical subtype','no definition available'),('90654','Stickler syndrome type 2','Clinical subtype','no definition available'),('90658','Charcot-Marie-Tooth disease type 1E','Disease','A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.'),('90673','Hypothyroidism due to TSH receptor mutations','Disease','A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.'),('90674','Isolated thyroid-stimulating hormone deficiency','Disease','A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.'),('90692','Rare endocrine growth disease','Category','no definition available'),('90695','Non-acquired panhypopituitarism','Disease','A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.'),('907','NON RARE IN EUROPE: Wolff-Parkinson-White syndrome','Disease','no definition available'),('90771','Disorder of sex development','Category','no definition available'),('90776','46,XX disorder of sex development induced by fetal androgens excess','Category','no definition available'),('90783','46,XY disorder of sex development due to a testosterone synthesis defect','Category','no definition available'),('90786','46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect','Category','no definition available'),('90787','46,XY disorder of sex development due to testicular steroidogenesis defect','Category','no definition available'),('90790','Congenital lipoid adrenal hyperplasia due to STAR deficency','Disease','A disorder that is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.'),('90791','Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency','Disease','A very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.'),('90793','Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency','Disease','A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.'),('90794','Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency','Disease','A disorder that is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.'),('90795','Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency','Disease','A rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.'),('90796','46,XY disorder of sex development due to isolated 17,20-lyase deficiency','Disease','46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.'),('90797','Partial androgen insensitivity syndrome','Disease','A disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.'),('908','Fragile X syndrome','Malformation syndrome','A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.'),('909','Cerebrotendinous xanthomatosis','Disease','Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.'),('90970','Primary lipodystrophy','Category','A heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).'),('91','Aromatase deficiency','Disease','A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.'),('910','Xeroderma pigmentosum','Disease','Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).'),('91024','Autosomal recessive axonal hereditary motor and sensory neuropathy','Clinical group','no definition available'),('91088','Other metabolic disease','Category','no definition available'),('911','Combined immunodeficiency due to ZAP70 deficiency','Disease','A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.'),('91127','Adenovirus infection in immunocompromised patients','Particular clinical situation in a disease or syndrome','no definition available'),('91128','OBSOLETE: Graft rejection after lung transplantation','Particular clinical situation in a disease or syndrome','no definition available'),('91129','Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome','Malformation syndrome','no definition available'),('91130','Cardiomyopathy-hypotonia-lactic acidosis syndrome','Disease','Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.'),('91131','DK1-CDG','Disease','DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.'),('91132','Ichthyosis-hypotrichosis syndrome','Disease','Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.'),('91133','Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome','Malformation syndrome','Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.'),('91135','Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency','Disease','Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.'),('91136','Acquired monoclonal Ig light chain-associated Fanconi syndrome','Disease','A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.'),('91137','Immunotactoid or fibrillary glomerulopathy','Clinical group','Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.'),('91138','Cryoglobulinemic vasculitis','Disease','Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.'),('91139','Simple cryoglobulinemia','Disease','Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.'),('91140','Unspecified juvenile idiopathic arthritis','Disease','Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.'),('91144','46,XX disorder of sex development induced by maternal-derived androgen','Category','no definition available'),('912','Zellweger syndrome','Disease','A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.'),('913','Zollinger-Ellison syndrome','Disease','Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.'),('91347','TSH-secreting pituitary adenoma','Disease','A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symtoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly.'),('91348','Functioning gonadotropic adenoma','Disease','Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).'),('91349','Non-functioning pituitary adenoma','Disease','A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or suprasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism. Histologically, different subtypes can be distinguished based on the expression of anterior pituitary hormones and transcription factors, silent gonadotroph adenoma being the most common subtype, while non-expressing null cell adenomas are very rare. Assessment of tumor cell proliferation is important to identify potentially aggressive tumors.'),('91350','Pituitary deficiency due to Rathke cleft cysts','Disease','Pituitary deficiency due to Rathke`s cleft cysts is a rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.'),('91351','Pituitary dermoid and epidermoid cysts','Disease','Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterized by the presence of rare, benign tumor in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction.'),('91352','Germinoma of the central nervous system','Clinical subtype','A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.'),('91353','OBSOLETE: Choristoma','Disease','no definition available'),('91354','Pituitary deficiency due to empty sella turcica syndrome','Disease','no definition available'),('91355','Sheehan syndrome','Malformation syndrome','Sheehan syndrome is a rare, acquired, pituitary hormone deficiency disorder resulting from pituitary necrosis following peri- or postpartum hemorrhage characterized by various symptoms depending on resulting hormone decrease (e.g. failure or difficulty with lactation, oligo- or amenorrhea, hot flashes, decreased libido, weakness, fatigue, anorexia, nausea, vomiting, hypoglycemia, hyponatremia, dizziness, decreased muscle mass, adrenal crisis). Secondary hypothyroidism and secondary adrenal insufficiency may also be presenting signs.'),('91357','Duplication of the esophagus','Clinical group','no definition available'),('91358','Congenital esophageal diverticulum','Morphological anomaly','Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.'),('91359','Chronic pneumonitis of infancy','Disease','Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term).'),('91364','Non-specific interstitial pneumonia','Disease','no definition available'),('91365','OBSOLETE: Secondary ciliary dyskinesia','Disease','no definition available'),('91378','Hereditary angioedema','Clinical group','Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.'),('91385','Acquired angioedema','Clinical group','A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.'),('91387','Familial thoracic aortic aneurysm and aortic dissection','Disease','Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.'),('91396','Isolated cryptophthalmia','Morphological anomaly','Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.'),('91397','Isolated ankyloblepharon filiforme adnatum','Morphological anomaly','Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.'),('91411','Congenital ptosis','Disease','Congenital ptosis is characterized by superior eyelid drop present at birth.'),('91412','Marcus-Gunn syndrome','Disease','Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.'),('91413','Congenital Horner syndrome','Disease','Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.'),('91414','Pilomatrixoma','Disease','Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).'),('91415','OBSOLETE: Familial capillary hemangioma','Disease','no definition available'),('91416','Isolated congenital alacrima','Disease','Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.'),('91481','Ring dermoid of cornea','Disease','Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.'),('91483','Rieger anomaly','Morphological anomaly','Rieger`s anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).'),('91489','Isolated congenital megalocornea','Morphological anomaly','Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.'),('91490','Isolated congenital sclerocornea','Morphological anomaly','no definition available'),('91491','Congenital ectropion uveae','Malformation syndrome','Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.'),('91492','Early-onset non-syndromic cataract','Disease','A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.'),('91494','Macular coloboma-cleft palate-hallux valgus syndrome','Malformation syndrome','Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.'),('91495','Persistent hyperplastic primary vitreous','Disease','no definition available'),('91496','Snowflake vitreoretinal degeneration','Disease','Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.'),('91498','Familial congenital palsy of trochlear nerve','Disease','Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.'),('915','Aarskog-Scott syndrome','Malformation syndrome','A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.'),('91500','Tubulointerstitial nephritis and uveitis syndrome','Disease','A rare renal tubular disease characterized by early-onset tubulointerstitial nephritis associated with anterior uveitis.'),('91546','Lyme disease','Disease','Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.'),('91547','Relapsing fever','Disease','Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex.'),('916','Aase-Smith syndrome','Malformation syndrome','A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.'),('918','ABCD syndrome','Malformation syndrome','no definition available'),('92','Juvenile idiopathic arthritis','Clinical group','A rare, heterogeneous group of rheumatologic diseases characterized by arthritis which has an onset before 16 years of age, persists for more than 6 weeks, and is of unknown origin.'),('920','Ablepharon macrostomia syndrome','Malformation syndrome','An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.'),('92050','Congenital tufting enteropathy','Disease','Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.'),('921','Abruzzo-Erickson syndrome','Malformation syndrome','An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.'),('922','Familial nasal acilia','Disease','Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.'),('924','NON RARE IN EUROPE: Acanthosis nigricans','Disease','no definition available'),('926','Acatalasemia','Disease','A rare congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.'),('927','Hyperammonemia due to N-acetylglutamate synthase deficiency','Disease','N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.'),('929','Achalasia-microcephaly syndrome','Malformation syndrome','An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.'),('93','Aspartylglucosaminuria','Disease','An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).'),('930','Idiopathic achalasia','Disease','Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.'),('931','Acheiropodia','Morphological anomaly','An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.'),('93100','Renal agenesis, unilateral','Clinical subtype','Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.'),('93101','Renal hypoplasia','Morphological anomaly','A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient`s age) with normal corticomedullary differentiation and reduced number of nephrons.'),('93108','Renal dysplasia','Morphological anomaly','Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.'),('93109','Congenital megacalycosis','Morphological anomaly','Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.'),('93110','Posterior urethral valve','Morphological anomaly','Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.'),('93111','HNF1B-related autosomal dominant tubulointerstitial kidney disease','Clinical subtype','Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.'),('93114','Autosomal dominant intermediate Charcot-Marie-Tooth disease type E','Disease','A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).'),('93126','Pauci-immune glomerulonephritis','Disease','Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN, see this term). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis (see these terms)), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA (see these terms).'),('93160','Hypocalcemic vitamin D-resistant rickets','Disease','Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.'),('93164','Transient pseudohypoaldosteronism','Disease','A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.'),('93172','Renal dysplasia, unilateral','Clinical subtype','Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.'),('93173','Renal dysplasia, bilateral','Clinical subtype','Bilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.'),('93176','Unilateral congenital megacalycosis','Clinical subtype','no definition available'),('93177','Congenital bilateral megacalycosis','Clinical subtype','no definition available'),('93178','OBSOLETE: Partial prune belly syndrome','Clinical subtype','no definition available'),('932','Achondrogenesis','Disease','A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.'),('93206','OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis','Histopathological subtype','no definition available'),('93207','OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change','Histopathological subtype','no definition available'),('93209','OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation','Histopathological subtype','no definition available'),('93213','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis','Histopathological subtype','no definition available'),('93214','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation','Histopathological subtype','no definition available'),('93216','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes','Histopathological subtype','no definition available'),('93217','OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis','Histopathological subtype','no definition available'),('93218','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis','Histopathological subtype','no definition available'),('93220','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis','Histopathological subtype','no definition available'),('93221','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes','Histopathological subtype','no definition available'),('93222','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation','Histopathological subtype','no definition available'),('93256','Fragile X-associated tremor/ataxia syndrome','Malformation syndrome','Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.'),('93258','Pfeiffer syndrome type 1','Clinical subtype','Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.'),('93259','Pfeiffer syndrome type 2','Clinical subtype','Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.'),('93260','Pfeiffer syndrome type 3','Clinical subtype','Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.'),('93262','Crouzon syndrome-acanthosis nigricans syndrome','Malformation syndrome','Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).'),('93267','Cloverleaf skull-multiple congenital anomalies syndrome','Malformation syndrome','This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.'),('93268','Short rib-polydactyly syndrome, Beemer-Langer type','Malformation syndrome','Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.'),('93269','Short rib-polydactyly syndrome, Majewski type','Malformation syndrome','no definition available'),('93270','Short rib-polydactyly syndrome, Saldino-Noonan type','Malformation syndrome','Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia, pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems.'),('93271','Short rib-polydactyly syndrome, Verma-Naumoff type','Malformation syndrome','Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.'),('93274','Thanatophoric dysplasia type 2','Clinical subtype','Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).'),('93275','Thanatophoric dysplasia, Glasgow variant','Clinical subtype','no definition available'),('93276','Polyostotic fibrous dysplasia','Clinical subtype','no definition available'),('93277','Monostotic fibrous dysplasia','Clinical subtype','no definition available'),('93279','Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis','Disease','Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.'),('93280','Spondyloepiphyseal dysplasia, Omani type','Disease','no definition available'),('93282','Spondyloepimetaphyseal dysplasia, PAPSS2 type','Disease','Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.'),('93283','Spondyloepiphyseal dysplasia, Kimberley type','Disease','Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.'),('93284','Spondyloepiphyseal dysplasia tarda','Disease','Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.'),('93292','Adenoma of pancreas','Disease','A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.'),('93293','Okihiro syndrome','Malformation syndrome','Okihiro syndrome is a syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.'),('93296','Achondrogenesis type 2','Clinical subtype','A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.'),('93297','Hypochondrogenesis','Clinical subtype','no definition available'),('93298','Achondrogenesis type 1B','Clinical subtype','A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.'),('93299','Achondrogenesis type 1A','Clinical subtype','A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.'),('93301','Brachyolmia type 1, Hobaek type','Malformation syndrome','no definition available'),('93302','Brachyolmia, Maroteaux type','Malformation syndrome','A relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.'),('93303','Brachyolmia type 1, Toledo type','Malformation syndrome','no definition available'),('93304','Autosomal dominant brachyolmia','Malformation syndrome','A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.'),('93307','Multiple epiphyseal dysplasia type 4','Disease','Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.'),('93308','Multiple epiphyseal dysplasia type 1','Disease','Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.'),('93311','Multiple epiphyseal dysplasia type 5','Disease','Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.'),('93313','OBSOLETE: Multiple epiphyseal dysplasia, unclassified type','Disease','no definition available'),('93314','Spondylometaphyseal dysplasia, Kozlowski type','Disease','Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.'),('93315','Spondylometaphyseal dysplasia, `corner fracture` type','Disease','Spondylometaphyseal dysplasia, `corner fracture` type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated `corner fractures` of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).'),('93316','Spondylometaphyseal dysplasia, Schmidt type','Disease','Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.'),('93317','Spondylometaphyseal dysplasia, Sedaghatian type','Malformation syndrome','Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.'),('93320','Ulnar hemimelia','Morphological anomaly','Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.'),('93321','Radial hemimelia','Morphological anomaly','Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.'),('93322','Tibial hemimelia','Morphological anomaly','Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.'),('93323','Fibular hemimelia','Morphological anomaly','Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.'),('93324','Autosomal recessive Kenny-Caffey syndrome','Etiological subtype','A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.'),('93325','Autosomal dominant Kenny-Caffey syndrome','Etiological subtype','A rare, primary bone dysplasia characterized by severe growth retardation, short stature, cortical thickening and medullary stenosis of long bones, delayed closure of the anterior fontanelle, absent diploic space in the skull bones, prominent forehead, macrocephaly, dental anomalies, eye problems (hypermetropia and pseudopapilledema), and hypocalcemia due to hypoparathyroidism, sometimes resulting in convulsions. Intelligence is normal.'),('93328','Autosomal dominant omodysplasia','Clinical subtype','no definition available'),('93329','Autosomal recessive omodysplasia','Clinical subtype','no definition available'),('93333','Pelviscapular dysplasia','Malformation syndrome','Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.'),('93334','Postaxial polydactyly type A','Morphological anomaly','no definition available'),('93335','Postaxial polydactyly type B','Morphological anomaly','no definition available'),('93336','Polydactyly of a triphalangeal thumb','Morphological anomaly','Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).'),('93337','Polydactyly of an index finger','Morphological anomaly','Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962.'),('93338','Polysyndactyly','Morphological anomaly','Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.'),('93339','Polydactyly of a biphalangeal thumb','Morphological anomaly','Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.'),('93346','Spondyloepimetaphyseal dysplasia congenita, Strudwick type','Disease','Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).'),('93347','Anauxetic dysplasia','Disease','no definition available'),('93349','X-linked spondyloepimetaphyseal dysplasia','Disease','A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.'),('93351','Spondyloepimetaphyseal dysplasia, Irapa type','Disease','Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.'),('93352','Spondyloepimetaphyseal dysplasia, Shohat type','Disease','Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.'),('93356','Spondyloepimetaphyseal dysplasia, Missouri type','Disease','Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.'),('93357','SPONASTRIME dysplasia','Disease','A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.'),('93358','Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome','Disease','Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.'),('93359','Spondyloepimetaphyseal dysplasia with joint laxity','Disease','no definition available'),('93360','Spondyloepimetaphyseal dysplasia with multiple dislocations','Disease','Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.'),('93365','OBSOLETE: CINCA syndrome with NLRP3 mutations','Clinical subtype','no definition available'),('93367','OBSOLETE: CINCA syndrome without NLRP3 mutations','Clinical subtype','no definition available'),('93372','Familial hypocalciuric hypercalcemia type 1','Etiological subtype','no definition available'),('93382','Brachydactyly type A6','Malformation syndrome','Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.'),('93383','Brachydactyly type B','Malformation syndrome','Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.'),('93384','Brachydactyly type C','Malformation syndrome','Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance.'),('93385','NON RARE IN EUROPE: Brachydactyly type D','Malformation syndrome','no definition available'),('93387','Brachydactyly type E','Malformation syndrome','Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.'),('93388','Brachydactyly type A1','Malformation syndrome','Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.'),('93389','Brachydactyly type A5','Malformation syndrome','no definition available'),('93393','NON RARE IN EUROPE: Brachydactyly type A3','Morphological anomaly','no definition available'),('93394','Brachydactyly type A4','Malformation syndrome','A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.'),('93395','Ballard syndrome','Malformation syndrome','no definition available'),('93396','Brachydactyly type A2','Malformation syndrome','Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.'),('93397','Brachydactyly type A7','Malformation syndrome','Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.'),('93398','Genochondromatosis type 2','Disease','Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.'),('93399','Juvenile sialidosis type 2','Clinical subtype','no definition available'),('93400','Congenital sialidosis type 2','Clinical subtype','no definition available'),('93402','Syndactyly type 1','Morphological anomaly','Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.'),('93403','Syndactyly type 2','Morphological anomaly','Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.'),('93404','Syndactyly type 3','Morphological anomaly','Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.'),('93405','Syndactyly type 4','Morphological anomaly','Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).'),('93406','Syndactyly type 5','Morphological anomaly','Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.'),('93409','Brachydactyly-syndactyly, Zhao type','Malformation syndrome','Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.'),('93419','Rare bone disease','Category','no definition available'),('93420','FGFR3-related chondrodysplasia','Category','no definition available'),('93421','Type 2 collagen-related bone disorder','Category','no definition available'),('93422','Type 11 collagen-related bone disorder','Category','no definition available'),('93423','Sulfation-related bone disorder','Category','no definition available'),('93424','Perlecan-related bone disorder','Category','no definition available'),('93425','Filamin-related bone disorder','Category','no definition available'),('93426','Ciliopathies with major skeletal involvement','Category','no definition available'),('93427','OBSOLETE: Metatropic dysplasias','Clinical group','no definition available'),('93429','Multiple epiphyseal dysplasia and pseudoachondroplasia','Category','no definition available'),('93430','Multiple metaphyseal dysplasia','Clinical group','no definition available'),('93434','Spondylodysplastic dysplasia','Clinical group','no definition available'),('93435','OBSOLETE: Moderate spondylodysplastic dysplasia','Clinical group','no definition available'),('93436','Acromelic dysplasia','Clinical group','no definition available'),('93437','Acromesomelic dysplasia','Clinical group','no definition available'),('93438','Mesomelic and rhizo-mesomelic dysplasia','Clinical group','no definition available'),('93439','Campomelic dysplasia and related disorders','Clinical group','no definition available'),('93440','Slender bone dysplasia','Clinical group','no definition available'),('93441','Primary bone dysplasia with multiple joint dislocations','Clinical group','no definition available'),('93442','Chondrodysplasia punctata','Clinical group','no definition available'),('93443','Neonatal osteosclerotic dysplasia','Clinical group','no definition available'),('93444','Primary bone dysplasia with increased bone density','Category','no definition available'),('93445','OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement','Clinical group','no definition available'),('93446','Primary bone dysplasia with decreased bone density','Category','no definition available'),('93447','Primary bone dysplasia with defective bone mineralization','Category','no definition available'),('93448','Lysosomal storage disease with skeletal involvement','Category','no definition available'),('93449','Primary osteolysis','Category','no definition available'),('93450','Primary bone dysplasia with disorganized development of skeletal components','Category','no definition available'),('93451','Cleidocranial dysplasia and isolated cranial ossification defect','Category','no definition available'),('93452','OBSOLETE: Craniosynostosis syndrome or cranial ossification disease','Clinical group','no definition available'),('93453','Dysostosis with predominant craniofacial involvement','Category','no definition available'),('93454','Dysostosis with predominant vertebral and costal involvement','Category','no definition available'),('93455','Patellar dysostosis','Category','no definition available'),('93456','OBSOLETE: Brachydactyly group','Clinical group','no definition available'),('93457','Non-syndromic limb reduction defect','Category','no definition available'),('93458','Non-syndromic polydactyly, syndactyly and/or hyperphalangy','Category','no definition available'),('93459','Syndrome with synostosis or other joint formation defect','Category','no definition available'),('93460','Overgrowth syndrome','Category','no definition available'),('93461','Chromosomal disease with overgrowth','Category','no definition available'),('93465','Lethal chondrodysplasia','Category','no definition available'),('93466','OBSOLETE: Limb-girdle bone anomaly','Clinical group','no definition available'),('93469','OBSOLETE: Harmonic micromelia','Clinical group','no definition available'),('93470','OBSOLETE: Dysharmonic micromelia','Clinical group','no definition available'),('93471','OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly','Clinical group','no definition available'),('93472','OBSOLETE: Dysmorphic syndrome associated with bone anomaly','Clinical group','no definition available'),('93473','Hurler syndrome','Clinical subtype','Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.'),('93474','Scheie syndrome','Clinical subtype','Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.'),('93476','Hurler-Scheie syndrome','Clinical subtype','Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.'),('935','Short-limb skeletal dysplasia with severe combined immunodeficiency','Disease','Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.'),('93545','Renal or urinary tract malformation','Category','no definition available'),('93546','Non-syndromic renal or urinary tract malformation','Category','no definition available'),('93547','Syndromic renal or urinary tract malformation','Category','no definition available'),('93548','Glomerular disease','Category','no definition available'),('93550','OBSOLETE: Basement membrane disease','Clinical group','no definition available'),('93551','OBSOLETE: Secondary glomerular disease','Category','no definition available'),('93552','Pediatric systemic lupus erythematosus','Disease','A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).'),('93554','Type II mixed cryoglobulinemia','Etiological subtype','Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).'),('93555','Mixed cryoglobulinemia type III','Etiological subtype','Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.'),('93556','Heavy chain deposition disease','Clinical subtype','no definition available'),('93557','Light and heavy chain deposition disease','Clinical subtype','no definition available'),('93558','Light chain deposition disease','Clinical subtype','no definition available'),('93559','C3 deposition glomerulonephritis without proliferation','Disease','no definition available'),('93560','AApoAI amyloidosis','Clinical subtype','A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.'),('93561','ALys amyloidosis','Clinical subtype','A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.'),('93562','AFib amyloidosis','Clinical subtype','A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition.'),('93564','OBSOLETE: Pediatric polyarteritis nodosa','Clinical subtype','no definition available'),('93566','OBSOLETE: Pediatric Sjögren syndrome','Clinical subtype','no definition available'),('93567','OBSOLETE: Pediatric systemic sclerosis','Clinical subtype','no definition available'),('93568','Juvenile polymyositis','Disease','A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy.'),('93569','Polymyalgia rheumatica','Disease','A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, which are exacerbated with inactivity and improve progressively over the day. Muscle tenderness, peripheral synovitis, arthritis, carpal tunnel syndrome or distal tenosynovitis, as well as non-specific symptoms, such as fatigue, asthenia, malaise, low-grade fever, anorexia and weight loss, may be associated. Acute phase reactants (erythrocyte sedimentation rate, C-reactive protein) are increased.'),('93571','Dense deposit disease','Histopathological subtype','Dense deposit disease, a histological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term).'),('93573','Thrombotic microangiopathy','Clinical group','no definition available'),('93575','OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly','Etiological subtype','no definition available'),('93576','OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly','Etiological subtype','no definition available'),('93578','OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly','Etiological subtype','no definition available'),('93579','OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly','Etiological subtype','no definition available'),('93580','OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly','Etiological subtype','no definition available'),('93581','Atypical hemolytic uremic syndrome with anti-factor H antibodies','Etiological subtype','no definition available'),('93583','Congenital thrombotic thrombocytopenic purpura','Clinical subtype','Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.'),('93585','Acquired thrombotic thrombocytopenic purpura','Clinical subtype','A rare, non-hereditary thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.'),('93587','Familial cystic renal disease','Category','no definition available'),('93589','Late-onset nephronophthisis','Clinical subtype','no definition available'),('93591','Infantile nephronophthisis','Clinical subtype','no definition available'),('93592','Juvenile nephronophthisis','Clinical subtype','no definition available'),('93593','Nephropathy secondary to a storage or other metabolic disease','Category','no definition available'),('93594','OBSOLETE: Alpha-1-antichymotrypsin deficiency','Disease','no definition available'),('93598','Primary hyperoxaluria type 1','Clinical subtype','no definition available'),('93599','Primary hyperoxaluria type 2','Clinical subtype','no definition available'),('936','Succinic acidemia','Disease','no definition available'),('93600','Primary hyperoxaluria type 3','Clinical subtype','no definition available'),('93601','Xanthinuria type I','Etiological subtype','Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.'),('93602','Xanthinuria type II','Etiological subtype','Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.'),('93603','Rare renal tubular disease','Category','no definition available'),('93604','Antenatal Bartter syndrome','Clinical subtype','A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome'),('93605','Classic Bartter syndrome','Clinical subtype','Classic Bartter syndrome is a type of Bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.'),('93606','Nephrogenic syndrome of inappropriate antidiuresis','Disease','Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.'),('93607','Autosomal recessive proximal renal tubular acidosis','Clinical subtype','Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.'),('93608','Autosomal dominant distal renal tubular acidosis','Clinical subtype','A rare inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.'),('93609','Autosomal recessive distal renal tubular acidosis without deafness','Clinical subtype','no definition available'),('93610','Distal renal tubular acidosis with anemia','Clinical subtype','Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia.'),('93611','Autosomal recessive distal renal tubular acidosis with deafness','Clinical subtype','no definition available'),('93612','Cystinuria type A','Etiological subtype','no definition available'),('93613','Cystinuria type B','Etiological subtype','no definition available'),('93614','Hematological disorder with renal involvement','Category','no definition available'),('93616','Hemoglobin H disease','Clinical subtype','Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia.'),('93618','Rare cause of hypertension','Category','no definition available'),('93619','Rare renal tumor','Category','no definition available'),('93622','Dent disease type 1','Clinical subtype','Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.'),('93623','Dent disease type 2','Clinical subtype','Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.'),('93626','Rare renal disease','Category','no definition available'),('93665','Autoinflammatory syndrome','Category','no definition available'),('93668','OBSOLETE: Adult chronic recurrent multifocal osteomyelitis','Clinical subtype','no definition available'),('93672','Juvenile dermatomyositis','Disease','Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.'),('93682','OBSOLETE: Pediatric Castleman disease','Clinical subtype','no definition available'),('93685','Unicentric Castleman disease','Clinical subtype','Localized Castleman disease (LCD) is the most common form of Castleman disease (CD; see this term) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.'),('93686','OBSOLETE: Multicentric Castleman disease','Clinical subtype','no definition available'),('93688','OBSOLETE: Non-idiopathic juvenile arthritis','Clinical group','no definition available'),('93890','Rare developmental defect during embryogenesis','Category','no definition available'),('939','3-hydroxyisobutyric aciduria','Disease','3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.'),('93921','Schwannomatosis','Disease','Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.'),('93924','Lobar holoprosencephaly','Clinical subtype','Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.'),('93925','Alobar holoprosencephaly','Clinical subtype','A disorder of the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.'),('93926','Midline interhemispheric variant of holoprosencephaly','Clinical subtype','Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.'),('93928','Isolated epispadias','Clinical subtype','A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.'),('93929','Cloacal exstrophy','Clinical subtype','A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.'),('93930','Bladder exstrophy','Clinical subtype','A congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.'),('93932','FG syndrome type 1','Disease','no definition available'),('93937','OBSOLETE: Terminal transverse defects of arm','Morphological anomaly','no definition available'),('93938','Laryngotracheoesophageal cleft type 1','Clinical subtype','A congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.'),('93939','Laryngotracheoesophageal cleft type 2','Clinical subtype','A congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.'),('93940','Laryngotracheoesophageal cleft type 3','Clinical subtype','A congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.'),('93941','Laryngotracheoesophageal cleft type 4','Clinical subtype','A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.'),('93942','OBSOLETE: Superior celosomia','Morphological anomaly','no definition available'),('93943','Corpus callosum dysgenesis-hypopituitarism syndrome','Malformation syndrome','no definition available'),('93944','X-linked intellectual disability, Fichera type','Clinical subtype','no definition available'),('93945','X-linked intellectual disability, Porteous type','Clinical subtype','no definition available'),('93946','Hamel cerebro-palato-cardiac syndrome','Clinical subtype','An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.'),('93947','X-linked intellectual disability, Golabi-Ito-Hall type','Clinical subtype','An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.'),('93950','X-linked intellectual disability, Sutherland-Haan type','Clinical subtype','no definition available'),('93951','OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome','Disease','no definition available'),('93952','X-linked intellectual disability, Hedera type','Disease','X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.'),('93953','Familial thyroglossal duct cyst','Morphological anomaly','A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.'),('93955','OBSOLETE: Benign essential blepharospasm','Disease','no definition available'),('93956','OBSOLETE: Truncal dystonia','Disease','no definition available'),('93957','OBSOLETE: Limb dystonia','Disease','no definition available'),('93958','Oromandibular dystonia','Disease','A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.'),('93961','OBSOLETE: Laryngeal dyskinesia','Disease','no definition available'),('93962','OBSOLETE: Cervical dystonia','Disease','no definition available'),('93963','OBSOLETE: Autosomal dominant focal dystonia, DYT7 type','Disease','no definition available'),('93964','Blepharospasm-oromandibular dystonia syndrome','Disease','A focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.'),('93968','Meningocele','Disease','no definition available'),('93969','Myelomeningocele','Morphological anomaly','A rare neural tube closure defect characterized by protrusion of the spinal cord and meninges from the spinal column into a fluid-filled sac at the location of the defect. Clinical signs are variable, depending on location and severity of the lesion, but may include bladder and bowel dysfunction, hydrocephalus, and/or partial or complete paralysis of the lower limbs, among others.'),('93970','Holmes-Gang syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93971','Chudley-Lowry-Hoar syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies).'),('93972','Juberg-Marsidi syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93973','Carpenter-Waziri syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93974','Smith-Fineman-Myers syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93975','Renier-Gabreels-Jasper syndrome','Malformation syndrome','An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).'),('93976','Anotia','Morphological anomaly','A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.'),('94','Astrocytoma','Clinical group','A complex group of benign and malignant cerebral tumors arising at any age.'),('94056','Humero-ulnar synostosis','Morphological anomaly','no definition available'),('94058','Neovascular glaucoma','Particular clinical situation in a disease or syndrome','Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.'),('94059','Uremic pruritus','Particular clinical situation in a disease or syndrome','no definition available'),('94061','OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome','Disease','no definition available'),('94062','NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome','Disease','no definition available'),('94063','12q14 microdeletion syndrome','Malformation syndrome','12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.'),('94064','Deafness-infertility syndrome','Malformation syndrome','Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.'),('94065','15q24 microdeletion syndrome','Etiological subtype','15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.'),('94066','Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia','Malformation syndrome','Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.'),('94068','Spondyloepiphyseal dysplasia congenita','Disease','Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.'),('94075','Severe immune-mediated enteropathy','Category','Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.'),('94080','Non-functioning paraganglioma','Disease','A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel lindau syndrome, may be observed.'),('94083','Partington syndrome','Malformation syndrome','Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.'),('94084','Cerebro-oculo-facial-lymphatic syndrome','Malformation syndrome','no definition available'),('94086','Blue diaper syndrome','Disease','Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.'),('94087','Cytophagic histiocytic panniculitis','Disease','Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.'),('94088','Hereditary renal hypouricemia','Malformation syndrome','A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF).'),('94089','Pseudohypoparathyroidism type 1B','Disease','Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.'),('94090','Pseudohypoparathyroidism type 2','Disease','Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright`s hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.'),('94091','Mills syndrome','Disease','A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.'),('94093','Neuroleptic malignant syndrome','Disease','A rare neuropsychiatric syndrome associated with administration of antipsychotic or other central dopamine (D2) receptor antagonists, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.'),('94095','Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome','Malformation syndrome','Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.'),('941','D-glyceric aciduria','Disease','D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.'),('94122','Cerebellar ataxia, Cayman type','Disease','A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.'),('94124','Spinocerebellar ataxia with axonal neuropathy type 1','Disease','Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.'),('94125','Recessive mitochondrial ataxia syndrome','Disease','Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.'),('94145','Autosomal dominant cerebellar ataxia type I','Clinical group','A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.'),('94147','Spinocerebellar ataxia type 7','Disease','An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.'),('94148','Autosomal dominant cerebellar ataxia type III','Clinical group','A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer`s cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.'),('94149','Autosomal dominant cerebellar ataxia type IV','Clinical group','no definition available'),('94150','Anonychia congenita totalis','Clinical subtype','no definition available'),('943','Malonic aciduria','Disease','Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).'),('945','Acalvaria','Malformation syndrome','A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.'),('946','Acrocephalosyndactyly','Clinical group','A rare group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.'),('949','Acrocraniofacial dysostosis','Malformation syndrome','A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.'),('95','Friedreich ataxia','Disease','Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.'),('950','Acrodysostosis','Malformation syndrome','An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.'),('95157','Acute hepatic porphyria','Clinical group','A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare).'),('95159','Hepatoerythropoietic porphyria','Disease','Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.'),('95161','Chronic hepatic porphyria','Clinical group','Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms).'),('952','Acrofacial dysostosis, Weyers type','Malformation syndrome','A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.'),('95232','Lissencephaly due to LIS1 mutation','Disease','Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.'),('953','OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type','Malformation syndrome','no definition available'),('95409','Acute adrenal insufficiency','Clinical syndrome','A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.'),('95426','OBSOLETE: Chronic pain requiring intraspinal analgesia','Particular clinical situation in a disease or syndrome','no definition available'),('95427','Secondary short bowel syndrome','Disease','Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.'),('95428','COG8-CDG','Disease','The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.'),('95429','Angioma serpiginosum','Disease','A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.'),('95430','Congenital tracheomalacia','Morphological anomaly','Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.'),('95431','Twin to twin transfusion syndrome','Disease','Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated'),('95432','Primary progressive aphasia','Clinical group','Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).'),('95433','Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome','Disease','no definition available'),('95434','Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome','Disease','A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.'),('95443','Mesocardia','Morphological anomaly','A rare, congenital non-syndromic heart malformation characterized by an atypical location of the heart in a central position in the thorax, with the apex in the midline of the thorax. Atria are usually situs solitus, whereas ventricles may be situs inversus. Various congenital heart anomalies and visceral situs inversus have also been associated.'),('95448','Congenital aortic valve atresia','Clinical subtype','no definition available'),('95449','OBSOLETE: Congenital aortic valve insufficiency','Morphological anomaly','no definition available'),('95455','Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum','Disease','Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.'),('95457','Tricuspid valve agenesis','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.'),('95458','Tricuspid valve prolapse','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by bulking of tricuspid valve into the right atrium during systole. It can be isolated, but is more often associated with mitral valve prolapse or with other cardiac and lung diseases. Clinical presentation depends on severity and associated findings and there is a high incidence of cardiac arrhythmias and possible bacterial endocarditis.'),('95459','Congenital tricuspid stenosis','Morphological anomaly','no definition available'),('95461','Straddling or overriding tricuspid valve','Morphological anomaly','Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.'),('95462','Accessory tricuspid valve tissue','Morphological anomaly','A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.'),('95463','Anomaly of the tricuspid subvalvular apparatus','Category','no definition available'),('95464','Congenital mitral valve insufficiency and/or stenosis','Category','no definition available'),('95465','Cleft mitral valve','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by a slit-like hole or defect in one of the mitral valve leaflets, which is usually thickened and distorted. It usually affects the anterior leaflet, but the cleft of posterior leaflet has also been described. Cleft mitral valve can be isolated or associated with other congenital heart anomalies.'),('95474','Double-orifice mitral valve','Clinical subtype','A rare, congenital, non-syndromic heart malformation characterized by a single fibrous annulus with two orifices opening into the left ventricle. Clinical presentation is variable and related to the degree of resulting mitral insufficiency and/or stenosis, and depending on the associated heart disease, most commonly atrioventricular septal defect, obstructive left-sided lesions, and cyanotic heart disease. Rare cases of isolated disease have been reported.'),('95483','Univentricular cardiopathy','Category','no definition available'),('95484','OBSOLETE: Aneurysm or dilatation of ascending aorta','Morphological anomaly','no definition available'),('95485','Arterial duct anomaly','Category','no definition available'),('95486','Premature closure of the arterial duct','Morphological anomaly','Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.'),('95487','NON RARE IN EUROPE: Atypical arterial duct','Disease','no definition available'),('95488','Non-acquired pituitary hormone deficiency','Category','no definition available'),('95491','Congenital coronary artery aneurysm','Morphological anomaly','Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.'),('95493','OBSOLETE: Abnormal origin or aberrant course of coronary artery','Clinical group','no definition available'),('95494','Combined pituitary hormone deficiencies, genetic forms','Disease','Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.'),('95495','Disease associated with non-acquired combined pituitary hormone deficiency','Category','no definition available'),('95496','Pituitary stalk interruption syndrome','Morphological anomaly','Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.'),('95498','Congenital anomaly of superior vena cava','Category','no definition available'),('95499','Congenital anomaly of the inferior vena cava','Category','no definition available'),('955','Acroosteolysis dominant type','Malformation syndrome','A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.'),('95500','Congenital anomaly of the coronary sinus','Category','no definition available'),('95501','OBSOLETE: Congenital central diabetes insipidus','Clinical group','no definition available'),('95502','Acquired pituitary hormone deficiency','Category','no definition available'),('95503','Pituitary hormone deficiency of tumoral origin','Category','no definition available'),('95504','OBSOLETE: Metastatic pituitary hormone deficiency','Clinical group','no definition available'),('95505','Pituitary hormone deficiency of meningeal origin','Category','no definition available'),('95506','Primary hypophysitis','Clinical group','no definition available'),('95507','Congenital anomaly of hepatic vein','Morphological anomaly','no definition available'),('95510','Atrial appendage anomaly','Category','no definition available'),('95512','Adenohypophysitis','Disease','A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.'),('95513','Panhypophysitis','Disease','Panhypophysitis is a rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue.'),('956','Acropectororenal dysplasia','Malformation syndrome','no definition available'),('95611','Pituitary hormone deficiency of vascular origin','Category','no definition available'),('95613','Pituitary apoplexy','Disease','A rare pituitary disease characterized by hemorrhagic or non-hemorrhagic necrosis of the pituitary gland. Clinical manifestations typically comprise sudden and severe headache (often with nausea and vomiting), visual disturbances (visual-field defects, loss of visual acuity), oculomotor palsies, and variable degrees of altered consciousness, ranging from lethargy to coma. Acute endocrine dysfunction may also be present, most commonly corticotropic deficiency with severe hypotension and hyponatremia as well as secondary adrenal failure, but also thyrotropic and gonadotropic deficiency.'),('95614','OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage','Disease','no definition available'),('95615','OBSOLETE: Pituitary deficiency secondary to an anevrysm','Clinical group','no definition available'),('95617','Pituitary hormone deficiency secondary to a granulomatous disease','Category','no definition available'),('95618','Pituitary hormone deficiency secondary to storage disease','Category','no definition available'),('95619','Post-traumatic pituitary deficiency','Disease','Iatrogenic or traumatic pituitary deficiency is a rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.'),('95621','OBSOLETE: Postsurgical hypopituitarism','Disease','no definition available'),('95622','OBSOLETE: Radiation-induced hypopituitarism','Disease','no definition available'),('95623','OBSOLETE: Posttraumatic hypopituitarism','Disease','no definition available'),('95625','OBSOLETE: Posttraumatic diabetes insipidus','Disease','no definition available'),('95626','Acquired central diabetes insipidus','Clinical subtype','A subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.'),('95698','NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency','Disease','no definition available'),('95699','Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency','Disease','Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.'),('957','Acropectorovertebral dysplasia','Malformation syndrome','A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).'),('95700','Familial adrenal hypoplasia with absent pituitary luteinizing hormone','Disease','Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.'),('95701','OBSOLETE: Congenital adrenal hypoplasia of maternal cause','Disease','no definition available'),('95702','Cytomegalic congenital adrenal hypoplasia','Disease','no definition available'),('95706','Posterior hypospadias','Morphological anomaly','Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.'),('95707','Idiopathic isolated micropenis','Morphological anomaly','A rare, non-syndromic, urogenital tract malformation characterized by an anatomically normal penis which has a stretched penile length of less than 2.5 SD for age, in the absence of any other abnormalities and with no known cause.'),('95708','Rare precocious puberty','Category','no definition available'),('95709','Acquired premature ovarian failure','Category','no definition available'),('95710','Non-acquired premature ovarian failure','Category','no definition available'),('95711','Congenital hypothyroidism due to developmental anomaly','Category','Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.'),('95712','Thyroid ectopia','Morphological anomaly','Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.'),('95713','Athyreosis','Morphological anomaly','A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.'),('95714','Primary congenital hypothyroidism without thyroid developmental anomaly','Category','Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.'),('95715','Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies','Disease','Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent.'),('95716','Familial thyroid dyshormonogenesis','Disease','Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.'),('95717','Idiopathic congenital hypothyroidism','Disease','Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.'),('95718','Congenital thyroid malformation without hypothyroidism','Category','no definition available'),('95719','Thyroid hemiagenesis','Morphological anomaly','Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.'),('95720','Thyroid hypoplasia','Morphological anomaly','Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.'),('95721','OBSOLETE: Thyroid pyramidal lobe','Morphological anomaly','no definition available'),('958','Acro-renal-mandibular syndrome','Malformation syndrome','A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.'),('95854','Levocardia','Morphological anomaly','A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by the heart located in the normal (levo) position associated with abdominal viscera located in the dextro position. Cardiac (e.g. interrupted inferior vena cava with azygous continuation) and/or splenic (asplenia, polysplenia) anomalies, as well as intestinal malrotation, are frequently associated.'),('959','Acro-renal-ocular syndrome','Malformation syndrome','A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome.'),('96','Ataxia with vitamin E deficiency','Disease','A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.'),('96055','Tetrasomy 21','Malformation syndrome','Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.'),('96059','Mosaic trisomy 4','Malformation syndrome','Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.'),('96060','Mosaic trisomy 5','Malformation syndrome','Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.'),('96061','Mosaic trisomy 8','Malformation syndrome','Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.'),('96063','Mosaic trisomy 10','Malformation syndrome','Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.'),('96068','Mosaic trisomy 22','Malformation syndrome','Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.'),('96069','Distal trisomy 1p36','Malformation syndrome','Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.'),('96070','Distal trisomy 2p','Malformation syndrome','Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.'),('96071','Distal trisomy 3p','Malformation syndrome','Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.'),('96072','4p16.3 microduplication syndrome','Malformation syndrome','4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.'),('96074','Distal trisomy 7p','Malformation syndrome','Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.'),('96076','Beckwith-Wiedemann syndrome due to 11p15 microduplication','Etiological subtype','no definition available'),('96078','16p13.3 microduplication syndrome','Malformation syndrome','16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.'),('96092','8p inverted duplication/deletion syndrome','Malformation syndrome','8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.'),('96094','Distal trisomy 2q','Malformation syndrome','Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.'),('96095','3q26 microduplication syndrome','Malformation syndrome','3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.'),('96096','Distal trisomy 4q','Malformation syndrome','Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.'),('96097','Distal trisomy 5q','Malformation syndrome','Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).'),('96098','Distal trisomy 6q','Malformation syndrome','Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.'),('96100','Distal trisomy 8q','Malformation syndrome','Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).'),('96101','Distal trisomy 9q','Malformation syndrome','Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.'),('96102','Distal trisomy 10q','Malformation syndrome','Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.'),('96103','Distal trisomy 11q','Malformation syndrome','Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.'),('96105','Distal trisomy 13q','Malformation syndrome','Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.'),('96106','Distal trisomy 16q','Malformation syndrome','Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.'),('96107','Distal trisomy 20q','Malformation syndrome','Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.'),('96109','Distal trisomy 22q','Malformation syndrome','Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.'),('96112','Non-distal trisomy 9q','Malformation syndrome','Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.'),('96121','7q11.23 microduplication syndrome','Malformation syndrome','7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.'),('96123','Monosomy 22','Malformation syndrome','A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.'),('96125','Distal monosomy 6p','Malformation syndrome','Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.'),('96126','Distal monosomy 7p','Malformation syndrome','Distal monosomy 7p is a partial autosomal monosomy characterized by developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies, and specific craniofacial features, commonly including craniosynostosis.'),('96129','Distal monosomy 19p13.3','Malformation syndrome','Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).'),('96136','OBSOLETE: Non-distal monosomy 7p','Malformation syndrome','no definition available'),('96145','Distal monosomy 4q','Malformation syndrome','Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin.'),('96147','Kleefstra syndrome due to 9q34 microdeletion','Etiological subtype','no definition available'),('96148','Distal monosomy 10q','Malformation syndrome','Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.'),('96149','Distal monosomy 12q','Malformation syndrome','no definition available'),('96150','Distal monosomy 14q','Malformation syndrome','Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.'),('96152','Distal monosomy 20q','Malformation syndrome','A rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 20, with a highly variable phenotype typically characterized by global developmental delay with important speech and language deficits, intellectual disability, hypotonia, epilepsy, behavioral anomalies (e.g. autism spectrum disorder behaviors) and hand and feet skeletal malformations. Craniofacial dysmorphism, including microcephaly, high forehead, hypertelorism, broad nasal bridge, bulbous nasal tip, malformed ears, long philtrum, thin upper lip, and microretrognathia, may be occasionally associated.'),('96160','Non-distal monosomy 12q','Malformation syndrome','Non-distal monosomy 12q is a partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.'),('96164','Non-distal monosomy 20q','Malformation syndrome','no definition available'),('96167','Recombinant 8 syndrome','Malformation syndrome','Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.'),('96168','Monosomy 13q34','Malformation syndrome','Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.'),('96169','Koolen-De Vries syndrome','Malformation syndrome','A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.'),('96170','Emanuel syndrome','Malformation syndrome','Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.'),('96171','Ring chromosome 2 syndrome','Malformation syndrome','Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).'),('96172','Ring chromosome 3 syndrome','Malformation syndrome','Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.'),('96173','Ring chromosome 9 syndrome','Malformation syndrome','Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.'),('96175','Ring chromosome 11 syndrome','Malformation syndrome','Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.'),('96176','Ring chromosome 13 syndrome','Malformation syndrome','Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.'),('96177','Ring chromosome 15 syndrome','Malformation syndrome','Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).'),('96178','Ring chromosome 16 syndrome','Malformation syndrome','Ring chromosome 16 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.'),('96179','Maternal uniparental disomy of chromosome 2','Malformation syndrome','Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('96180','Maternal uniparental disomy of chromosome 4','Malformation syndrome','Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('96181','Maternal uniparental disomy of chromosome 6','Malformation syndrome','Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.'),('96182','Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7','Etiological subtype','Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).'),('96183','Maternal uniparental disomy of chromosome 9','Malformation syndrome','Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('96184','Temple syndrome due to maternal uniparental disomy of chromosome 14','Etiological subtype','Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).'),('96185','Maternal uniparental disomy of chromosome 16','Malformation syndrome','Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.'),('96186','Maternal uniparental disomy of chromosome 20','Malformation syndrome','Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.'),('96187','Maternal uniparental disomy of chromosome 21','Malformation syndrome','Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.'),('96188','Maternal uniparental disomy of chromosome 22','Malformation syndrome','Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.'),('96190','Paternal uniparental disomy of chromosome 5','Malformation syndrome','Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('96191','Paternal uniparental disomy of chromosome 6','Malformation syndrome','Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.'),('96192','Paternal uniparental disomy of chromosome 7','Malformation syndrome','Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).'),('96193','Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11','Etiological subtype','no definition available'),('96194','Paternal uniparental disomy of chromosome 20','Malformation syndrome','Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b (see this term) testing and have UPD involving variable segments of the long arm of chromosome 20.'),('96195','Paternal uniparental disomy of chromosome 21','Malformation syndrome','Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('96201','X small rings','Malformation syndrome','X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.'),('96210','Rare genetic deafness','Category','no definition available'),('96253','Cushing disease','Disease','Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.'),('96256','Somatotropic adenoma','Clinical group','no definition available'),('96263','48,XXXY syndrome','Malformation syndrome','The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.'),('96264','49,XXXXY syndrome','Malformation syndrome','The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.'),('96265','Leydig cell hypoplasia due to complete LH resistance','Clinical subtype','no definition available'),('96266','Leydig cell hypoplasia due to partial LH resistance','Clinical subtype','no definition available'),('96269','Isolated partial vaginal agenesis','Morphological anomaly','A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.'),('963','Acromegaly','Disease','A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.'),('96321','Polyploidy','Category','no definition available'),('96325','Isochromosome Y','Category','no definition available'),('96333','Rare otorhinolaryngological malformation','Category','no definition available'),('96334','Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14','Etiological subtype','no definition available'),('96344','Rare gynecologic or obstetric disease','Category','no definition available'),('96346','Anorectal malformation','Category','no definition available'),('96369','Early-onset schizophrenia','Disease','A rare, neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestation commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits, and executive functioning deficits.'),('964','Acromegaly-cutis verticis gyrata-corneal leukoma syndrome','Malformation syndrome','no definition available'),('965','Acromegaloid facial appearance syndrome','Malformation syndrome','A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.'),('966','Hypertrichosis-acromegaloid facial appearance syndrome','Malformation syndrome','Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).'),('968','Acromesomelic dysplasia, Hunter-Thompson type','Malformation syndrome','A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.'),('969','Acromicric dysplasia','Malformation syndrome','A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.'),('97','Familial paroxysmal ataxia','Disease','Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.'),('970','Hereditary sensory and autonomic neuropathy type 2','Disease','A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves.'),('971','Acrorenal syndrome','Malformation syndrome','A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.'),('97120','Distal arthrogryposis','Clinical group','no definition available'),('972','Hereditary continuous muscle fiber activity','Disease','Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.'),('97214','Eisenmenger syndrome','Malformation syndrome','A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.'),('97229','Riboflavin transporter deficiency','Malformation syndrome','A syndromic genetic deafness characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.'),('97230','Solar urticaria','Disease','A rare photodermatosis characterized by an abrupt onset of transient erythema, wheals, and pruritus appearing within minutes of exposure to light.'),('97231','Ligneous conjunctivitis','Disease','no definition available'),('97232','Fingerprint body myopathy','Disease','Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.'),('97234','Glycogen storage disease due to phosphoglycerate mutase deficiency','Disease','Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. The disease is due to an anomaly in one of the last steps of glycolysis. The enzymatic defect in PGAMD is caused by mutations in the cDNA coding for the M-isoform of PGAM. Residual PGAM activity in the muscles of patients (2%-6%) is due to activity of the B-isoform. Transmission is autosomal recessive. Differential diagnosis includes muscle phosphorylase deficiency (McArdle disease) and phosphofructokinase deficiency (PFKD) (see these terms).'),('97238','Rippling muscle disease','Disease','Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.'),('97239','Reducing body myopathy','Disease','Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.'),('97240','Zebra body myopathy','Disease','Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.'),('97242','Congenital muscular dystrophy','Category','Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).'),('97244','Rigid spine syndrome','Disease','Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.'),('97245','Congenital myopathy','Category','no definition available'),('97249','Pontocerebellar hypoplasia type 3','Malformation syndrome','Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.'),('97252','Mega-cisterna magna','Morphological anomaly','A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.'),('97253','Neuroendocrine tumor of pancreas','Category','Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms).'),('97261','GRFoma','Disease','GRFoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes growth hormone-releasing factor (GRF or GHRH) and that clinically resembles a pituitary adenoma (see this term) as patients present with acromegaly. In addition to the pancreas, this tumor can also occur in the lungs or small intestine, are usually large > 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1; see these terms).'),('97275','Encephalitis','Category','no definition available'),('97278','PPoma','Disease','PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).'),('97279','Insulinoma','Disease','Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.'),('97280','Glucagonoma','Disease','Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.'),('97282','VIPoma','Disease','VIPoma is an extremely rare type of pancreatic neuroendocrine tumor (see this term) that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).'),('97283','Somatostatinoma','Disease','Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal pain, weight loss, jaundice and diarrhea but, in approximately 20% of pancreatic cases, leads to a somatostatin hypersecretion syndrome (somatostatinoma syndrome) characterized by diabetes mellitus, cholelithiasis, steatorrhea and hypochlorhydria.'),('97285','Thyroid lymphoma','Disease','no definition available'),('97286','Carney-Stratakis syndrome','Disease','Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.'),('97287','Bronchial neuroendocrine tumor','Disease','no definition available'),('97289','Thymic neuroendocrine tumor','Disease','Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid syndrome, respectively.'),('97290','Familial papillary thyroid carcinoma with renal papillary neoplasia','Disease','Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term).'),('97292','Cardiogenic shock','Particular clinical situation in a disease or syndrome','no definition available'),('97293','Rare benign ovarian tumor','Category','no definition available'),('97295','Furlong syndrome','Malformation syndrome','no definition available'),('97297','Bohring-Opitz syndrome','Malformation syndrome','A rare, life-threatening mutliple congenital anomalies syndrome characterized by intrauterine growth restriction, postnatal failure to thrive and facial dysmorphism (microcephaly or trigonocephaly, prominent glabellar nevus flammeus (simplex) fading with age, hypotonic facies, low frontal and temporal hairline, hirsutism, synophrys, prominent or proptotic eyes, hypertelorism, upslanting palpebral fissures, depressed and wide nasal bridge, anteverted nares, full cheeks, low-set and posteriorly angulated ears, cleft lip and/or palate, high arched palate, micrognathia and/or retrognathia). A specific posture (BOS posture) is also reported, characterized by external rotation and/or adduction of the shoulders, flexion at the elbows and wrists, ulnar deviation of the wrists and/or the metacarpophalangeal joints. Additional features mainly include severe feeding difficulties, chronic emesis, recurrent infections, hypertrichosis, seizures, truncal hypotonia and hypertonic extremities, as well as cerebral, ocular, cardiac, and other skeletal anomalies, central obesity, severe intellectual disability, sleep disturbance, urinary retention, and an increased risk for renal stones and Wilms tumor.'),('973','Congenital absence/hypoplasia of fingers excluding thumb, unilateral','Morphological anomaly','Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.'),('97330','Thoracic outlet syndrome','Disease','Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms).'),('97332','Kienbock disease','Disease','Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.'),('97335','Osgood-Schlatter disease','Disease','Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.'),('97336','Panner disease','Disease','Panner`s disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum (see this term), occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.'),('97337','Sinding-Larsen-Johansson disease','Disease','Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.'),('97338','Melanoma of soft tissue','Disease','A rare soft tissue tumor characterized by a slowly growing mass typically involving tendons and aponeuroses of the extremities, composed of polygonal or spindle-shaped cells with melanocytic differentiation. The tumor typically affects young adults, who often present with pain or tenderness at the tumor site. Prognosis is poor with high recurrence rates and frequent metastasis, especially to lymph nodes, lung, and bones.'),('97339','Dural sinus malformation','Morphological anomaly','A rare neurovascular malformation characterized by massive dilation of one or more dural sinuses typically associated with arteriovenous shunts. Anatomic types are the lateral type involving the jugular bulb, which presents with minimal symptoms, and the usually symptomatic midline type involving the confluens sinuum (torcular Herophili) and adjacent posterior sinuses. Complications include sinus thrombosis, venous infarction, and cerebral hemorrhage, as well as cardiac failure, macrocrania, and hydrocephalus. Spontaneous regression of the malformation may occur.'),('97340','Hunter-McAlpine craniosynostosis','Malformation syndrome','Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).'),('97341','Persistent placoid maculopathy','Disease','Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.'),('97342','OBSOLETE: Argyrophilic grain disease','Disease','no definition available'),('97345','ABri amyloidosis','Clinical subtype','A rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.'),('97346','ADan amyloidosis','Clinical subtype','A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.'),('97349','Postencephalitic parkinsonism','Disease','no definition available'),('97352','Pellagra','Disease','Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.'),('97353','Dementia pugilistica','Disease','A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.'),('97354','NON RARE IN EUROPE: Wernicke encephalopathy','Disease','no definition available'),('97355','Caribbean parkinsonism','Disease','Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.'),('97360','Robinow syndrome','Malformation syndrome','Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.'),('97361','Renal hypoplasia, unilateral','Clinical subtype','A form of renal hypoplasia characterized by unilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic with minimal risk of renal failure in childhood'),('97362','Renal hypoplasia, bilateral','Clinical subtype','A form of renal hypoplasia characterized by bilateral small kidneys with a deficit in the number of nephrons present. The condition is typically asymptomatic but may be associated with hypertension, and some excretory functional limitations, as well as eventual chronic renal failure.'),('97363','Unilateral multicystic dysplastic kidney','Clinical subtype','A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.'),('97364','Bilateral multicystic dysplastic kidney','Clinical subtype','A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.'),('97365','NON RARE IN EUROPE: Solitary renal cyst','Malformation syndrome','no definition available'),('97366','Multiloculated renal cyst','Morphological anomaly','no definition available'),('97367','Renal tubular dysgenesis due to twin-twin transfusion','Etiological subtype','`Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS; see this term) is an acquired form of renal tubular dysgenesis (see this term) that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).`'),('97368','Drug-related renal tubular dysgenesis','Etiological subtype','no definition available'),('97369','Renal tubular dysgenesis of genetic origin','Etiological subtype','no definition available'),('974','Adams-Oliver syndrome','Malformation syndrome','A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.'),('97548','Right sided atrial isomerism','Malformation syndrome','no definition available'),('97552','Steroid-sensitive nephrotic syndrome without renal biopsy','Etiological subtype','no definition available'),('97555','OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy','Histopathological subtype','no definition available'),('97556','Congenital and infantile nephrotic syndrome','Clinical group','no definition available'),('97557','NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis','Disease','no definition available'),('97560','Primary membranous glomerulonephritis','Disease','A rare glomerular disease, histologically characterized by thickening of the capillary wall, with immune deposits predominantly containing IgG4 and C3 on the sub-epithelial side, and typically manifesting with nephrotic syndrome.'),('97562','NON RARE IN EUROPE: Benign familial hematuria','Disease','no definition available'),('97563','Pauci-immune glomerulonephritis with ANCA','Clinical subtype','Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis (see this term), and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.'),('97564','Pauci-immune glomerulonephritis without ANCA','Clinical subtype','Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis (see this term) and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA (see this term), patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.'),('97566','Non-amyloid fibrillary glomerulopathy','Disease','Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG, see this term) are often grouped together as pathogenetically related diseases.'),('97567','Immunotactoid glomerulopathy','Disease','Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP, see this term) are often grouped together as pathogenetically related diseases.'),('97569','OBSOLETE: Unclassified glomerulonephritis','Clinical group','no definition available'),('97593','Pseudohypoparathyroidism','Category','Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP) (see these terms).'),('97598','Congenital renal artery stenosis','Disease','no definition available'),('97599','OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis','Disease','no definition available'),('976','Adenine phosphoribosyltransferase deficiency','Disease','A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.'),('97668','OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency','Etiological subtype','no definition available'),('97678','Maternal uniparental disomy of chromosome 13','Malformation syndrome','Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.'),('97685','17q11 microdeletion syndrome','Clinical subtype','17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.'),('977','Adrenomyodystrophy','Disease','An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.'),('978','ADULT syndrome','Malformation syndrome','A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.'),('97927','OBSOLETE: Peripheral resistance to thyroid hormones','Disease','no definition available'),('97929','Rare cardiac disease','Category','no definition available'),('97935','Rare gastroenterologic disease','Category','no definition available'),('97944','Gastroduodenal malformation','Category','no definition available'),('97945','Intestinal malformation','Category','no definition available'),('97955','Rare respiratory disease','Category','no definition available'),('97957','Respiratory or thoracic malformation','Category','no definition available'),('97962','Rare surgical thoracic disease','Category','no definition available'),('97965','Rare surgical cardiac disease','Category','no definition available'),('97966','Rare ophthalmic disorder','Category','no definition available'),('97978','Rare endocrine disease','Category','no definition available'),('97992','Rare hematologic disease','Category','no definition available'),('98','Autosomal recessive spastic ataxia of Charlevoix-Saguenay','Disease','Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.'),('980','Absence of the pulmonary artery','Morphological anomaly','Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM, see this term). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.'),('98004','Rare immune disease','Category','no definition available'),('98006','Rare neurologic disease','Category','no definition available'),('98010','Infectious disease of the nervous system','Category','no definition available'),('98022','Rare headache','Category','no definition available'),('98023','Rare systemic or rheumatologic disease','Category','no definition available'),('98026','Rare odontologic disease','Category','no definition available'),('98027','Rare disease with odontological manifestation','Category','no definition available'),('98028','Rare circulatory system disease','Category','no definition available'),('98033','Rare neurologic disease with psychiatric involvement','Category','no definition available'),('98036','Rare otorhinolaryngologic disease','Category','no definition available'),('98038','Cranial malformation','Category','no definition available'),('98039','Digestive tract malformation','Category','no definition available'),('98041','Visceral malformation of the liver, biliary tract, pancreas or spleen','Category','no definition available'),('98043','Diaphragmatic or abdominal wall malformation','Category','no definition available'),('98044','Central nervous system malformation','Category','no definition available'),('98045','Respiratory or mediastinal malformation','Category','no definition available'),('98047','Rare infertility','Category','no definition available'),('98048','Rare male infertility','Category','no definition available'),('98049','Rare female infertility','Category','no definition available'),('98050','Rare allergic disease','Category','no definition available'),('98052','Rare allergic respiratory disease','Category','no definition available'),('98053','Rare genetic disease','Category','no definition available'),('98054','Rare genetic cardiac disease','Category','no definition available'),('98056','Rare genetic renal disease','Category','no definition available'),('98057','Rare tumor','Category','no definition available'),('98058','Rare urinary tract tumor','Category','no definition available'),('98059','Rare digestive tumor','Category','no definition available'),('98060','Rare respiratory tumor','Category','no definition available'),('98061','Rare otorhinolaryngologic tumor','Category','no definition available'),('98062','Rare nervous system tumor','Category','no definition available'),('98063','Rare gynecological tumor','Category','no definition available'),('98064','OBSOLETE: Rare disease in physical medicine and rehabilitation','Clinical group','no definition available'),('98068','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly','Category','no definition available'),('98069','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy','Category','no definition available'),('98070','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine','Category','no definition available'),('98071','OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation','Category','no definition available'),('98073','OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia','Category','no definition available'),('98074','Gonadal dysgenesis of gynecological interest','Category','no definition available'),('98078','46,XX disorder of sex development induced by androgens excess','Category','no definition available'),('98085','46,XY disorder of sex development','Category','no definition available'),('98086','46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue','Category','no definition available'),('98087','Syndrome with 46,XY disorder of sex development','Category','no definition available'),('98095','Autosomal recessive congenital cerebellar ataxia','Category','no definition available'),('98096','Autosomal recessive metabolic cerebellar ataxia','Category','no definition available'),('98097','Autosomal recessive cerebellar ataxia due to a DNA repair defect','Category','no definition available'),('98098','Autosomal recessive degenerative and progressive cerebellar ataxia','Category','no definition available'),('98099','Autosomal recessive syndromic cerebellar ataxia','Category','no definition available'),('981','Internal carotid agenesis','Morphological anomaly','Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.'),('98101','OBSOLETE: Pore-loop channelopathy','Category','no definition available'),('98102','OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect','Category','no definition available'),('98103','OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect','Category','no definition available'),('98104','OBSOLETE: Channelopathy due to a transient receptor potential channel defect','Category','no definition available'),('98105','OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels','Category','no definition available'),('98106','OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect','Category','no definition available'),('98107','OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect','Category','no definition available'),('98108','OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect','Category','no definition available'),('98109','OBSOLETE: Non-pore-loop channelopathy','Category','no definition available'),('98110','OBSOLETE: Channelopathy due to an epithelial sodium channel defect','Category','no definition available'),('98111','OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect','Category','no definition available'),('98112','OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect','Category','no definition available'),('98113','OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly','Category','no definition available'),('98114','OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly','Category','no definition available'),('98115','OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly','Category','no definition available'),('98116','OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly','Category','no definition available'),('98117','OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly','Category','no definition available'),('98118','OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly','Category','no definition available'),('98119','OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly','Category','no definition available'),('98120','OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly','Category','no definition available'),('98121','OBSOLETE: Cys-loop receptor channelopathy','Category','no definition available'),('98122','OBSOLETE: Channelopathy due to a neuronal glycine receptor defect','Category','no definition available'),('98123','OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect','Category','no definition available'),('98124','OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect','Category','no definition available'),('98125','OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect','Category','no definition available'),('98127','Autosomal anomaly','Category','no definition available'),('98130','Autosomal trisomy','Category','no definition available'),('98131','Total autosomal trisomy','Category','no definition available'),('98132','Partial autosomal trisomy/tetrasomy','Category','no definition available'),('98141','Total autosomal monosomy','Category','no definition available'),('98142','Partial autosomal monosomy','Category','no definition available'),('98152','Autosomal uniparental disomy','Category','no definition available'),('98153','Maternal uniparental disomy','Category','no definition available'),('98154','Paternal uniparental disomy','Category','no definition available'),('98155','Sex-chromosome anomaly','Category','no definition available'),('98156','Sex-chromosome number anomaly','Category','no definition available'),('98157','Sex-chromosome structural anomaly','Category','no definition available'),('98158','Chromosome Y structural anomaly','Category','no definition available'),('98159','Chromosome X structural anomaly','Category','no definition available'),('98167','OBSOLETE: Diabetes associated to exocrine pancreas neoplasia','Clinical group','no definition available'),('98196','Malformation syndrome with hamartosis','Category','no definition available'),('982','Pulmonary valve agenesis','Clinical group','Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.'),('98203','Combined dystonia','Category','no definition available'),('98204','OBSOLETE: Heredodegenerative disease with dystonia as a major feature','Clinical group','no definition available'),('98249','Ehlers-Danlos syndrome','Clinical group','A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.'),('98252','Infectious encephalitis','Category','no definition available'),('98253','Postinfectious encephalitis','Category','no definition available'),('98255','Chronic encephalitis','Category','no definition available'),('98257','Neonatal epilepsy syndrome','Category','no definition available'),('98258','Infantile epilepsy syndrome','Category','no definition available'),('98259','Childhood-onset epilepsy syndrome','Category','no definition available'),('98260','Adolescent-onset epilepsy syndrome','Category','no definition available'),('98261','Progressive myoclonic epilepsy','Clinical group','no definition available'),('98267','Genetic non-syndromic obesity','Disease','A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.'),('98274','Myeloproliferative neoplasm','Clinical group','no definition available'),('98275','Myelodysplastic/myeloproliferative disease','Clinical group','no definition available'),('98277','Acute myeloid leukemia with recurrent genetic anomaly','Category','no definition available'),('98282','Plasma cell tumor','Category','no definition available'),('98287','Histiocytic and dendritic cell tumor','Category','no definition available'),('98288','Macrophage or histiocytic tumor','Category','no definition available'),('98289','Dendritic cell tumor','Category','no definition available'),('98290','Immunodeficiency-associated lymphoproliferative disease','Category','no definition available'),('98291','Lymphoproliferative disease associated with primary immune disease','Category','no definition available'),('98292','Mastocytosis','Category','no definition available'),('98293','Hodgkin lymphoma','Clinical group','Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases.'),('98296','OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly','Category','no definition available'),('98297','OBSOLETE: Ichthyosis associated with a protein catabolism anomaly','Category','no definition available'),('98298','OBSOLETE: Ichthyosis associated with a peroxisomal disease','Category','no definition available'),('98299','OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly','Category','no definition available'),('983','Testicular regression syndrome','Morphological anomaly','Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.'),('98300','Idiopathic interstitial pneumonia','Clinical group','no definition available'),('98301','Laminopathy','Category','no definition available'),('98305','Genetic lipodystrophy','Category','no definition available'),('98306','Familial partial lipodystrophy','Clinical group','A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.'),('98307','Acquired lipodystrophy','Category','no definition available'),('98309','OBSOLETE: Male infertility with impaired virilization','Clinical group','no definition available'),('98310','OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder','Clinical group','no definition available'),('98311','OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia','Clinical group','no definition available'),('98312','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder','Clinical group','no definition available'),('98313','Male infertility due to gonadal dysgenesis','Category','no definition available'),('98314','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect','Clinical group','no definition available'),('98315','OBSOLETE: Male infertility with impaired virilization due to a viral orchitis','Clinical group','no definition available'),('98316','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma','Clinical group','no definition available'),('98317','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related','Clinical group','no definition available'),('98318','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin','Clinical group','no definition available'),('98319','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity','Clinical group','no definition available'),('98320','OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease','Clinical group','no definition available'),('98321','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease','Clinical group','no definition available'),('98322','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure','Clinical group','no definition available'),('98323','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease','Clinical group','no definition available'),('98324','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness','Clinical group','no definition available'),('98325','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis','Clinical group','no definition available'),('98326','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder','Clinical group','no definition available'),('98327','OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease','Clinical group','no definition available'),('98328','OBSOLETE: Male infertility with normal virilization','Clinical group','no definition available'),('98329','OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect','Clinical group','no definition available'),('98330','OBSOLETE: Male infertility with normal virilization due to androgen administration','Clinical group','no definition available'),('98331','OBSOLETE: Male infertility with normal virilization due to a testicular defect','Clinical group','no definition available'),('98332','OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect','Clinical group','no definition available'),('98333','OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism','Clinical group','no definition available'),('98334','OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele','Clinical group','no definition available'),('98335','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect','Clinical group','no definition available'),('98336','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection','Clinical group','no definition available'),('98337','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation','Clinical group','no definition available'),('98338','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug','Clinical group','no definition available'),('98339','OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin','Clinical group','no definition available'),('98340','OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity','Clinical group','no definition available'),('98341','OBSOLETE: Male infertility with normal virilization due to a systemic disease','Clinical group','no definition available'),('98342','OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury','Clinical group','no definition available'),('98343','Male infertility due to obstructive azoospermia','Category','no definition available'),('98345','Rare idiopathic male infertility','Disease','no definition available'),('98349','Autosomal dominant isolated diffuse palmoplantar keratoderma','Category','no definition available'),('98352','Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature','Category','no definition available'),('98353','Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature','Category','no definition available'),('98356','Autosomal recessive isolated diffuse palmoplantar keratoderma','Category','no definition available'),('98357','Autosomal recessive disease with focal palmoplantar keratoderma as a major feature','Category','no definition available'),('98360','Constitutional anemia due to iron metabolism disorder','Category','no definition available'),('98362','Constitutional sideroblastic anemia','Category','no definition available'),('98363','Rare hemolytic anemia','Category','no definition available'),('98364','Rare constitutional hemolytic anemia due to a red cell membrane anomaly','Category','no definition available'),('98365','Hereditary stomatocytosis','Clinical group','no definition available'),('98366','Constitutional hemolytic anemia due to acanthocytosis','Category','no definition available'),('98369','Rare constitutional hemolytic anemia due to an enzyme disorder','Category','no definition available'),('98370','Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies','Category','no definition available'),('98372','Hemolytic anemia due to a disorder of glycolytic enzymes','Category','no definition available'),('98374','Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder','Category','no definition available'),('98375','Autoimmune hemolytic anemia','Clinical group','A rare, autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.'),('98396','Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder','Category','no definition available'),('984','Pulmonary agenesis','Morphological anomaly','A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.'),('98408','Constitutional megaloblastic anemia due to folate metabolism disorder','Category','no definition available'),('98415','Vitamin B12- and folate-independent constitutional megaloblastic anemia','Category','no definition available'),('98421','Red cell aplasia','Category','no definition available'),('98427','Polycythemia','Clinical group','no definition available'),('98428','Secondary polycythemia','Category','Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).'),('98429','Rare coagulation disorder','Category','no definition available'),('98434','Hereditary combined deficiency of vitamin K-dependent clotting factors','Disease','Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.'),('98435','OBSOLETE: Protease inhibitor anomaly','Clinical group','no definition available'),('98454','OBSOLETE: Platelet storage pool disease','Category','no definition available'),('98455','Alpha granule disease','Category','no definition available'),('98456','Dense granule disease','Category','no definition available'),('98464','X-linked syndromic intellectual disability','Category','no definition available'),('98468','OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly','Category','no definition available'),('98469','OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly','Category','no definition available'),('98470','OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly','Category','no definition available'),('98472','Skeletal muscle disease','Category','no definition available'),('98473','Muscular dystrophy','Category','no definition available'),('98482','Idiopathic inflammatory myopathy','Category','no definition available'),('98486','Metabolic myopathy','Category','no definition available'),('98491','Neuromuscular junction disease','Category','no definition available'),('98494','Acquired neuromuscular junction disease','Category','no definition available'),('98495','Genetic neuromuscular junction disease','Category','no definition available'),('98496','Rare peripheral neuropathy','Category','no definition available'),('98497','Genetic peripheral neuropathy','Category','no definition available'),('98503','Motor neuron disease','Category','no definition available'),('98505','Genetic motor neuron disease','Category','no definition available'),('98506','Acquired motor neuron disease','Category','no definition available'),('98514','Malformation of the cerebellar vermis','Category','no definition available'),('98516','Malformation of the cerebellar hemispheres','Category','no definition available'),('98518','Cranial nerve and nuclear aplasia','Category','no definition available'),('98519','Posterior fossa malformation','Category','no definition available'),('98520','OBSOLETE: Cystic malformation of the posterior fossa','Category','no definition available'),('98523','Non-syndromic pontocerebellar hypoplasia','Clinical group','Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern.'),('98527','OBSOLETE: Tauopathy','Category','no definition available'),('98528','OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration','Category','no definition available'),('98529','OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa','Category','no definition available'),('98530','OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa','Category','no definition available'),('98531','OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa','Category','no definition available'),('98532','OBSOLETE: Tauopathy with a major tau at 60 kDa','Category','no definition available'),('98534','Neurodegenerative disease with dementia','Category','no definition available'),('98535','Frontotemporal degeneration with dementia','Clinical group','no definition available'),('98538','Ataxia with dementia','Category','no definition available'),('98539','Early-onset ataxia with dementia','Category','no definition available'),('98540','Late-onset ataxia with dementia','Category','no definition available'),('98542','Infectious disease with dementia','Category','no definition available'),('98543','Metabolic disease with dementia','Category','no definition available'),('98544','Cerebral lipidosis with dementia','Category','no definition available'),('98549','Rare cerebrovascular dementia','Category','no definition available'),('98553','Developmental defect of the eye','Category','no definition available'),('98554','OBSOLETE: Major induction processes eye anomaly','Category','no definition available'),('98555','Microphthalmia-anophthalmia-coloboma','Category','no definition available'),('98557','Syndromic aniridia','Category','no definition available'),('98558','OBSOLETE: Rare eye disease due to a differentiation anomaly','Category','no definition available'),('98559','OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease','Category','no definition available'),('98560','Rare palpebral disorder','Category','no definition available'),('98561','Congenital malformation of the eyelid','Category','no definition available'),('98562','Cryptophthalmia','Category','no definition available'),('98563','Microblepharon-ablephara syndrome','Clinical group','no definition available'),('98564','Eyelid border anomaly','Category','no definition available'),('98565','Syndromic ankyloblepharon filiforme adnatum','Category','no definition available'),('98566','Syndromic eyelid coloboma','Category','no definition available'),('98567','Rare eyelid malposition disorder','Category','no definition available'),('98568','OBSOLETE: Congenital entropion','Category','no definition available'),('98569','OBSOLETE: Secondary entropion','Category','no definition available'),('98570','Congenital ectropion','Category','no definition available'),('98571','Secondary ectropion','Category','no definition available'),('98572','OBSOLETE: Canthal anomaly','Category','no definition available'),('98573','OBSOLETE: Epicanthal fold','Category','no definition available'),('98574','Syndromic epicanthus','Category','no definition available'),('98575','Syndromic telecanthus','Category','no definition available'),('98576','Syndromic outer canthal malposition','Category','no definition available'),('98577','OBSOLETE: Kinetic eyelid anomaly','Category','no definition available'),('98578','Rare disorder with ptosis','Category','no definition available'),('98579','OBSOLETE: Congenital upper palpebral retraction','Category','no definition available'),('98580','OBSOLETE: Palpebral tumor','Category','no definition available'),('98581','OBSOLETE: Palpebral epidermal tumor','Category','no definition available'),('98582','OBSOLETE: Benign tumor of palpebral epidermis','Category','no definition available'),('98583','OBSOLETE: Precancerous lesion of palpebral epidermis','Category','no definition available'),('98584','OBSOLETE: Malignant tumor of palpebral epidermis','Category','no definition available'),('98585','OBSOLETE: Palpebral sebaceous gland tumor','Category','no definition available'),('98586','OBSOLETE: Pigmented palpebral tumor','Category','no definition available'),('98587','OBSOLETE: Palpebral lentiginosis','Category','no definition available'),('98588','OBSOLETE: Palpebral nevus','Category','no definition available'),('98589','OBSOLETE: Palpebral malignant melanoma','Clinical group','no definition available'),('98590','OBSOLETE: Palpebral piliary tumor','Category','no definition available'),('98591','OBSOLETE: Mesenchymatous palpebral tumor','Category','no definition available'),('98592','OBSOLETE: Palpebral tumor with a vascular malformation','Category','no definition available'),('98593','Neurogenic palpebral tumor','Disease','A rare ophthalmic disorder characterized by origin from peripheral nerves or neuroendocrine cells, and variable clinical features, depending on the type of tumor. The most common benign tumors are plexiform neurofibroma associated with von Recklinghausen disease, solitary neurofibroma, and schwannoma. Malignant tumors are less frequent and include malignant peripheral nerve sheath tumor and Merkel cell tumor.'),('98594','Rare eyebrow/eyelash disorder','Category','no definition available'),('98595','OBSOLETE: Eyebrow/eyelashes hypertrichosis','Category','no definition available'),('98596','OBSOLETE: Eyebrow hypertrophy','Category','no definition available'),('98597','OBSOLETE: Eyelashes hypertrophy','Category','no definition available'),('98598','OBSOLETE: Congenital absence of the eyebrow/eyelashes','Category','no definition available'),('98599','OBSOLETE: Eyebrow/eyelashes structural anomaly','Category','no definition available'),('98600','OBSOLETE: Eyebrow/eyelashes distichiasis','Category','no definition available'),('98601','OBSOLETE: Eyebrow/eyelashes pigmentation anomaly','Category','no definition available'),('98602','Rare disorder of the lacrimal apparatus','Category','no definition available'),('98603','OBSOLETE: Secretory apparatus of the lacrimal system anomaly','Category','no definition available'),('98604','Congenital alacrima','Category','no definition available'),('98605','Lacrimal drainage system anomaly','Category','no definition available'),('98606','Syndromic orbital border hypoplasia','Malformation syndrome','Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.'),('98608','OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system','Category','no definition available'),('98609','EEC syndrome and related disorders','Category','no definition available'),('98610','Rare disorder with conjunctival involvement as a major feature','Category','no definition available'),('98611','OBSOLETE: Conjunctival vascular anomaly','Category','no definition available'),('98612','OBSOLETE: Conjunctival hemangioma or hemolymphangioma','Category','no definition available'),('98613','OBSOLETE: Conjunctival telangiectasia','Category','no definition available'),('98614','OBSOLETE: Conjunctival lymphangiectasia','Category','no definition available'),('98615','OBSOLETE: Pigmented conjunctival lesion','Category','no definition available'),('98616','OBSOLETE: Conjunctival tumor','Category','no definition available'),('98617','OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma','Category','no definition available'),('98618','Rare refraction anomaly','Category','no definition available'),('98619','Rare isolated myopia','Disease','Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.'),('98620','OBSOLETE: Syndromic myopia','Category','no definition available'),('98621','Rare hyperopia and astigmatism','Category','no definition available'),('98622','Syndromic hyperopia','Category','no definition available'),('98623','Syndromic keratoconus','Category','no definition available'),('98625','Superficial corneal dystrophy','Category','The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.'),('98626','Stromal corneal dystrophy','Category','The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.'),('98627','Posterior corneal dystrophy','Category','Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.'),('98628','Syndromic corneal dystrophy','Category','no definition available'),('98629','OBSOLETE: Rare glaucoma','Clinical group','no definition available'),('98631','Congenital malformation of the eye with glaucoma as a major feature','Category','no definition available'),('98632','OBSOLETE: Glaucoma associated with neural crest cell migration anomaly','Category','no definition available'),('98633','OBSOLETE: Goniodysgenesis','Category','no definition available'),('98634','Anterior segment developmental anomaly without extraocular manifestations','Category','no definition available'),('98635','Corneodysgenesis','Category','no definition available'),('98636','OBSOLETE: Corneoiridogoniodysgenesis','Category','no definition available'),('98637','OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly','Category','no definition available'),('98638','Rare disease with glaucoma as a major feature','Category','no definition available'),('98639','Rare lens disease','Category','no definition available'),('98640','Rare disorder with lens opacification','Category','no definition available'),('98641','Syndromic cataract','Category','no definition available'),('98642','Chromosomal anomaly with cataract','Category','no definition available'),('98643','OBSOLETE: Systemic disease with cataract','Category','no definition available'),('98644','Metabolic disease with cataract','Category','no definition available'),('98645','OBSOLETE: Cerebral disease with cataract','Category','no definition available'),('98646','Renal disease with cataract','Category','no definition available'),('98647','OBSOLETE: Cardiac disease with cataract','Category','no definition available'),('98648','Musculoskeletal disease with cataract','Category','no definition available'),('98649','Dentocutaneous disease with cataract','Category','no definition available'),('98650','Craniofacial anomaly with cataract','Category','no definition available'),('98652','Lens size anomaly','Category','no definition available'),('98653','Lens position anomaly','Category','no definition available'),('98655','Lens shape anomaly','Category','no definition available'),('98657','OBSOLETE: Genetic vitreous-retinal disease','Category','no definition available'),('98658','Color-vision disease','Category','no definition available'),('98661','Syndromic rod-cone dystrophy','Category','no definition available'),('98662','OBSOLETE: Unclassified familial retinal dystrophy','Category','no definition available'),('98664','OBSOLETE: Genetic macular dystrophy','Category','no definition available'),('98665','OBSOLETE: Colobomatous and areolar dystrophy','Category','no definition available'),('98666','OBSOLETE: Unclassified primitive or secondary maculopathy','Category','no definition available'),('98667','OBSOLETE: Disease predisposing to age-related macular degeneration','Category','no definition available'),('98668','Vitreoretinopathy','Category','no definition available'),('98669','OBSOLETE: Congenital vitreoretinal dysplasia','Category','no definition available'),('98670','OBSOLETE: Vitreoretinal degeneration','Category','no definition available'),('98671','Hereditary optic neuropathy','Category','no definition available'),('98672','Autosomal dominant optic atrophy','Clinical group','no definition available'),('98673','Autosomal dominant optic atrophy, classic form','Disease','One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.'),('98675','OBSOLETE: Autosomal recessive optic atrophy','Clinical group','no definition available'),('98676','Autosomal recessive isolated optic atrophy','Disease','A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia.'),('98677','OBSOLETE: Autosomal recessive syndromic optic atrophy','Clinical group','no definition available'),('98678','OBSOLETE: X-linked recessive optic atrophy','Clinical group','no definition available'),('98681','Rare disorder with strabismus','Category','no definition available'),('98682','NON RARE IN EUROPE: Essential strabismus','Disease','no definition available'),('98683','Syndromic disorder with strabismus','Category','no definition available'),('98684','Craniostenosis with strabismus','Category','no definition available'),('98685','Rare oculomotor nerve disorder','Category','no definition available'),('98686','Congenital trochlear nerve palsy','Disease','A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.'),('98687','Supranuclear eye movement disorder','Category','no definition available'),('98688','Oculomotor apraxia','Category','no definition available'),('98689','OBSOLETE: Myopathy with eye involvement','Category','no definition available'),('98690','OBSOLETE: Myasthenic syndrome with eye involvement','Category','no definition available'),('98691','OBSOLETE: Abnormal eye movements','Category','no definition available'),('98692','OBSOLETE: Nervous system anomaly with eye involvement','Category','no definition available'),('98693','OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly','Category','no definition available'),('98694','OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly','Category','no definition available'),('98695','OBSOLETE: Mitochondrial disease with eye involvement','Category','no definition available'),('98696','OBSOLETE: Genodermatosis with ocular features','Category','no definition available'),('98697','OBSOLETE: Genetic keratinization disorder associated with ocular features','Category','no definition available'),('98698','OBSOLETE: Ichthyosis associated with ocular features','Category','no definition available'),('98699','OBSOLETE: Syndromic ichthyosis associated with ocular features','Category','no definition available'),('98700','OBSOLETE: Pigmentation disorder with eye involvement','Category','no definition available'),('98701','OBSOLETE: Phakomatosis with eye involvement','Category','no definition available'),('98702','OBSOLETE: Connective tissue disease with eye involvement','Category','no definition available'),('98703','OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features','Category','no definition available'),('98704','OBSOLETE: Onycho-patellar syndrome with eye involvement','Category','no definition available'),('98706','Oculocutaneous or ocular albinism','Category','no definition available'),('98708','OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism','Category','no definition available'),('98709','OBSOLETE: Ectodermal malformation syndrome associated with ocular features','Category','no definition available'),('98710','OBSOLETE: Metabolic disease associated with ocular features','Category','no definition available'),('98711','OBSOLETE: Metabolic disease with corneal opacity','Category','no definition available'),('98712','OBSOLETE: Metabolic disease with cataract','Category','no definition available'),('98713','OBSOLETE: Metabolic disease with pigmentary retinitis','Category','no definition available'),('98714','OBSOLETE: Metabolic disease with macular cherry-red spot','Category','no definition available'),('98715','Uveitis','Category','no definition available'),('98716','Heart position anomaly','Category','no definition available'),('98717','Transposition of the great arteries and conotruncal cardiac anomaly','Category','no definition available'),('98718','Aortic malformation','Category','no definition available'),('98719','Pulmonary artery or pulmonary branch anomaly','Category','no definition available'),('98720','Atrioventricular valve anomaly','Category','no definition available'),('98721','Congenital tricuspid malformation','Category','no definition available'),('98722','Atrioventricular septal defect','Clinical group','no definition available'),('98723','Hypoplastic right heart syndrome','Clinical group','Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation (see this term) caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia (see these terms).'),('98724','Congenital anomaly of the great arteries','Category','no definition available'),('98725','Ascending aorta anomaly','Category','no definition available'),('98726','OBSOLETE: Pulmonary artery/pulmonary branch anomaly','Clinical group','no definition available'),('98727','Rare atrial defect and interatrial communication','Category','no definition available'),('98729','Congenital pulmonary veins anomaly','Category','no definition available'),('98730','OBSOLETE: Atrioventricular discordance','Clinical group','no definition available'),('98731','Congenital arteriovenous fistula','Category','A rare simple vascular malformation characterized by a congenital abnormal connection between an artery and a vein, appearing as varicose veins with port wine discoloration, leading to a bypass of the capillary bed. Signs and symptoms include palpable continuous thrill in the dilated vessels, continuous machinery murmur with systolic accentuation, collapsing arterial pulse, Nicoladoni Branham sign, as well as local gigantism and hot ulcers due to hypoxia, among others.'),('98732','OBSOLETE: Syndrome associated with a congenital cardiopathy','Clinical group','no definition available'),('98733','Noonan syndrome and Noonan-related syndrome','Category','no definition available'),('98734','OBSOLETE: Cardioskeletal syndrome','Clinical group','no definition available'),('98736','OBSOLETE: Genetic neurological channelopathy','Category','no definition available'),('98737','Genetic neurological muscular channelopathy','Category','no definition available'),('98738','Neurological muscular channelopathy due to a genetic sodium channel defect','Category','no definition available'),('98739','Neurological muscular channelopathy due to a genetic chloride channel defect','Category','no definition available'),('98740','Neurological muscular channelopathy due to a genetic calcium channel defect','Category','no definition available'),('98741','Neurological muscular channelopathy due to a genetic potassium channel defect','Category','no definition available'),('98742','Neurological muscular channelopathy due to a genetic ryanodine receptor defect','Category','no definition available'),('98743','Genetic neurological channelopathy of the central nervous system','Category','no definition available'),('98744','Neurological channelopathy of the central nervous system due to a genetic sodium channel defect','Category','no definition available'),('98745','Neurological channelopathy of the central nervous system due to a genetic calcium channel defect','Category','no definition available'),('98746','Neurological channelopathy of the central nervous system due to a genetic potassium channel defect','Category','no definition available'),('98747','Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect','Category','no definition available'),('98748','Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect','Category','no definition available'),('98749','Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect','Category','no definition available'),('98750','Autoimmune neurological channelopathy','Category','no definition available'),('98751','OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect','Category','no definition available'),('98752','OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect','Category','no definition available'),('98753','OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect','Category','no definition available'),('98754','Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15','Etiological subtype','no definition available'),('98755','Spinocerebellar ataxia type 1','Disease','Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.'),('98756','Spinocerebellar ataxia type 2','Disease','Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.'),('98757','Spinocerebellar ataxia type 3','Disease','Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.'),('98758','Spinocerebellar ataxia type 6','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.'),('98759','Spinocerebellar ataxia type 17','Disease','Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.'),('98760','Spinocerebellar ataxia type 8','Disease','Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.'),('98761','Spinocerebellar ataxia type 10','Disease','Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.'),('98762','Spinocerebellar ataxia type 12','Disease','Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.'),('98763','Spinocerebellar ataxia type 14','Disease','Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.'),('98764','Spinocerebellar ataxia type 27','Disease','Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.'),('98765','Spinocerebellar ataxia type 4','Disease','Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.'),('98766','Spinocerebellar ataxia type 5','Disease','An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.'),('98767','Spinocerebellar ataxia type 11','Disease','A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.'),('98768','Spinocerebellar ataxia type 13','Disease','Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.'),('98769','Spinocerebellar ataxia type 15/16','Disease','Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.'),('98770','Spinocerebellar ataxia type 16','Disease','no definition available'),('98771','Spinocerebellar ataxia type 18','Disease','Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.'),('98772','Spinocerebellar ataxia type 19/22','Disease','Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.'),('98773','Spinocerebellar ataxia type 21','Disease','Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.'),('98784','Autosomal dominant nocturnal frontal lobe epilepsy','Disease','A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.'),('98788','Pitt-Rogers-Danks syndrome','Malformation syndrome','no definition available'),('98791','Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16','Disease','A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.'),('98793','Prader-Willi syndrome due to paternal 15q11q13 deletion','Etiological subtype','no definition available'),('98794','Angelman syndrome due to maternal 15q11q13 deletion','Etiological subtype','no definition available'),('98795','Angelman syndrome due to paternal uniparental disomy of chromosome 15','Etiological subtype','no definition available'),('98797','Isochromosomy Yp','Malformation syndrome','Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.'),('98798','Isochromosomy Yq','Malformation syndrome','Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.'),('988','Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome','Malformation syndrome','Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.'),('98805','Primary dystonia, DYT4 type','Disease','DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).'),('98806','Primary dystonia, DYT6 type','Disease','Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.'),('98807','Primary dystonia, DYT13 type','Disease','A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.'),('98808','Autosomal dominant dopa-responsive dystonia','Disease','A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.'),('98809','Paroxysmal kinesigenic dyskinesia','Disease','Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.'),('98810','Paroxysmal non-kinesigenic dyskinesia','Disease','Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.'),('98811','Paroxysmal exertion-induced dyskinesia','Disease','Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.'),('98812','Paroxysmal hypnogenic dyskinesia','Disease','no definition available'),('98813','Hypohidrotic ectodermal dysplasia with immunodeficiency','Clinical subtype','Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.'),('98815','Benign childhood occipital epilepsy, Panayiotopoulos type','Clinical subtype','Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.'),('98816','Benign childhood occipital epilepsy, Gastaut type','Clinical subtype','Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.'),('98818','Landau-Kleffner syndrome','Disease','Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.'),('98819','Familial temporal lobe epilepsy','Disease','A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Seizures occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.'),('98820','Familial focal epilepsy with variable foci','Disease','Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.'),('98823','Chronic myelomonocytic leukemia','Disease','no definition available'),('98824','Atypical chronic myeloid leukemia','Disease','no definition available'),('98825','Unclassified myelodysplastic/myeloproliferative disease','Disease','no definition available'),('98826','Refractory anemia','Disease','Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.'),('98827','Unclassified myelodysplastic syndrome','Disease','Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.'),('98829','Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)','Disease','A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.'),('98831','Acute myeloid leukemia with 11q23 abnormalities','Disease','A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.'),('98832','Acute myeloid leukemia with minimal differentiation','Disease','A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.'),('98833','Acute myeloblastic leukemia without maturation','Disease','A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.'),('98834','Acute myeloblastic leukemia with maturation','Disease','A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.'),('98835','Acute undifferentiated leukemia','Disease','A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).'),('98836','Bilineal acute leukemia','Disease','no definition available'),('98837','Acute biphenotypic leukemia','Disease','no definition available'),('98838','Primary mediastinal large B-cell lymphoma','Disease','Primary mediastinal B-cell lymphoma (PMBL) is a rare subtype of diffuse large B-cell lymphoma (DLBCL; see this term), arising from B cells of thymic origin, that affects mainly women between the ages of 20-30, that usually presents with a bulky and rapidly expanding anterior mediastinal mass, often with pleural and pericardial effusions, and that can invade the lungs, superior vena cava, pleura, pericardium, and chest wall, leading to manifestations of cough, dyspnea, and superior vena cava syndrome.'),('98839','Intravascular large B-cell lymphoma','Disease','Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.'),('98841','Anaplastic large cell lymphoma','Disease','A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.'),('98842','Lymphomatoid papulosis','Disease','Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.'),('98843','Classic Hodgkin lymphoma, nodular sclerosis type','Histopathological subtype','no definition available'),('98844','Classic Hodgkin lymphoma, mixed cellularity type','Histopathological subtype','no definition available'),('98845','Classic Hodgkin lymphoma, lymphocyte-rich type','Histopathological subtype','no definition available'),('98846','Classic Hodgkin lymphoma, lymphocyte-depleted type','Histopathological subtype','no definition available'),('98848','Indolent systemic mastocytosis','Disease','A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.'),('98849','Systemic mastocytosis with associated hematologic neoplasm','Disease','An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.'),('98850','Aggressive systemic mastocytosis','Disease','A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.'),('98851','Mast cell leukemia','Disease','A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).'),('98852','Desquamative interstitial pneumonia','Disease','no definition available'),('98853','Autosomal dominant Emery-Dreifuss muscular dystrophy','Etiological subtype','no definition available'),('98855','Autosomal recessive Emery-Dreifuss muscular dystrophy','Etiological subtype','no definition available'),('98856','Charcot-Marie-Tooth disease type 2B1','Disease','Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.'),('98861','Primary ciliary dyskinesia, Kartagener type','Clinical subtype','no definition available'),('98863','X-linked Emery-Dreifuss muscular dystrophy','Etiological subtype','no definition available'),('98864','Common hereditary elliptocytosis','Disease','no definition available'),('98865','Homozygous hereditary elliptocytosis','Disease','no definition available'),('98866','OBSOLETE: Spherocytic elliptocytosis','Disease','no definition available'),('98867','Hereditary pyropoikilocytosis','Disease','no definition available'),('98868','Southeast Asian ovalocytosis','Disease','Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.'),('98869','Congenital dyserythropoietic anemia type I','Disease','Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.'),('98870','Congenital dyserythropoietic anemia type III','Disease','Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.'),('98871','Transient erythroblastopenia of childhood','Disease','A rare, benign, red cell aplasia of young children or infants characterized by a normocytic normochromic anaemia with severe reticulocytopenia in otherwise normocellular bone marrow, and a complete spontaneous recovery within 1-2 months after diagnosis. Neutropenia and thrombocytosis may be associated findings at diagnosis, and a history of a preceding viral illness is frequent. No organomegaly is observed.'),('98872','Adult pure red cell aplasia','Disease','A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.'),('98873','Congenital dyserythropoietic anemia type II','Disease','Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.'),('98878','Hemophilia A','Disease','Hemophilia A is the most common form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.'),('98879','Hemophilia B','Disease','Hemophilia B is a form of hemophilia (see this term) characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.'),('98880','Familial afibrinogenemia','Clinical subtype','Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.'),('98881','Familial dysfibrinogenemia','Clinical subtype','Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.'),('98885','Bleeding diathesis due to glycoprotein VI deficiency','Etiological subtype','no definition available'),('98886','Bleeding diathesis due to integrin alpha2-beta1 deficiency','Etiological subtype','no definition available'),('98888','X-linked complex spastic paraplegia','Clinical group','no definition available'),('98889','Bilateral perisylvian polymicrogyria','Clinical subtype','no definition available'),('98890','Early-onset X-linked optic atrophy','Disease','Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.'),('98892','Periventricular nodular heterotopia','Clinical subtype','Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.'),('98893','Congenital muscular dystrophy type 1B','Disease','Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.'),('98894','Congenital muscular dystrophy type 1D','Disease','no definition available'),('98895','Becker muscular dystrophy','Disease','A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.'),('98896','Duchenne muscular dystrophy','Disease','A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.'),('98897','Oculopharyngodistal myopathy','Disease','A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.'),('989','Hypoglossia-hypodactyly syndrome','Malformation syndrome','A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.'),('98902','Amish nemaline myopathy','Disease','A type of nemaline myopathy (NM) only observed in several families of the Amish community.'),('98904','Congenital myopathy with excess of thin filaments','Disease','A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.'),('98905','Congenital multicore myopathy with external ophthalmoplegia','Clinical subtype','no definition available'),('98907','Neutral lipid storage disease with ichthyosis','Disease','no definition available'),('98908','Neutral lipid storage myopathy','Disease','A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans` anomaly), as well as massive accumulation of lipid droplets in muscle tissue.'),('98909','Desminopathy','Disease','A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.'),('98910','Alpha-crystallinopathy','Clinical group','no definition available'),('98911','Distal myotilinopathy','Disease','A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.'),('98912','Late-onset distal myopathy, Markesbery-Griggs type','Disease','A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.'),('98913','Postsynaptic congenital myasthenic syndromes','Etiological subtype','no definition available'),('98914','Presynaptic congenital myasthenic syndromes','Etiological subtype','no definition available'),('98915','Synaptic congenital myasthenic syndromes','Etiological subtype','no definition available'),('98916','Acute inflammatory demyelinating polyradiculoneuropathy','Disease','A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).'),('98917','Acute motor and sensory axonal neuropathy','Disease','A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).'),('98918','Acute motor axonal neuropathy','Disease','A rare pure motor axonal form of Guillain-Barré syndrome (GBS).'),('98919','Miller Fisher syndrome','Disease','Miller-Fisher syndrome (MFS) is a rare cranial nerve variant of Guillain-Barré syndrome (GBS; see this term).'),('98920','Spinal muscular atrophy with respiratory distress type 1','Disease','Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.'),('98922','Blake pouch cyst','Morphological anomaly','Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.'),('98932','OBSOLETE: Shy-Drager syndrome','Clinical subtype','no definition available'),('98933','Multiple system atrophy, parkinsonian type','Clinical subtype','Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).'),('98934','Huntington disease-like 2','Disease','Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.'),('98938','Colobomatous microphthalmia','Malformation syndrome','Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.'),('98941','OBSOLETE: Von Hippel anomaly','Malformation syndrome','no definition available'),('98942','Coloboma of choroid and retina','Morphological anomaly','Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.'),('98943','Coloboma of eye lens','Morphological anomaly','A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.'),('98944','Coloboma of iris','Morphological anomaly','A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. `keyhole` or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.'),('98945','Coloboma of macula','Morphological anomaly','Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.'),('98946','Coloboma of eyelid','Morphological anomaly','A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.'),('98947','Coloboma of optic disc','Morphological anomaly','Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).'),('98948','Congenital symblepharon','Clinical subtype','no definition available'),('98949','Complete cryptophthalmia','Clinical subtype','no definition available'),('98950','Partial cryptophthalmia','Clinical subtype','no definition available'),('98951','Inverse Marcus-Gunn phenomenon','Clinical subtype','Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.'),('98954','Meesmann corneal dystrophy','Disease','Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.'),('98955','Lisch epithelial corneal dystrophy','Disease','Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.'),('98956','Epithelial basement membrane dystrophy','Disease','no definition available'),('98957','Gelatinous drop-like corneal dystrophy','Disease','Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.'),('98958','Climatic droplet keratopathy','Disease','A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss.'),('98959','Subepithelial mucinous corneal dystrophy','Disease','Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.'),('98960','Thiel-Behnke corneal dystrophy','Disease','Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.'),('98961','Reis-Bücklers corneal dystrophy','Disease','Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.'),('98962','Granular corneal dystrophy type I','Disease','Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.'),('98963','Granular corneal dystrophy type II','Disease','Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.'),('98964','Lattice corneal dystrophy type I','Disease','Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.'),('98967','Schnyder corneal dystrophy','Disease','Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.'),('98968','Central discoid corneal dystrophy','Disease','no definition available'),('98969','Macular corneal dystrophy','Disease','Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.'),('98970','Fleck corneal dystrophy','Disease','Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.'),('98971','Posterior amorphous corneal dystrophy','Disease','Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.'),('98972','Central cloudy dystrophy of François','Disease','Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.'),('98973','Posterior polymorphous corneal dystrophy','Disease','A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.'),('98974','Fuchs endothelial corneal dystrophy','Disease','A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.'),('98975','Congenital hereditary endothelial dystrophy type I','Disease','A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.'),('98976','Congenital glaucoma','Disease','A rare ophthalmic disorder characterized by an elevated intra-ocular pressure. The clinical presentation frequently associates an increase in the size of the eye, as well as corneal edema.'),('98977','Juvenile glaucoma','Disease','A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.'),('98978','Axenfeld anomaly','Morphological anomaly','A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe`s line and iris bands extending into the cornea. In contrast, Rieger`s anomaly includes characteristic iris and pupil anomalies.'),('98979','Chandler syndrome','Clinical subtype','A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.'),('98980','Cogan-Reese syndrome','Clinical subtype','A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.'),('98981','Essential iris atrophy','Clinical subtype','A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.'),('98983','OBSOLETE: Congenital cataract, Volkmann type','Clinical subtype','no definition available'),('98984','Pulverulent cataract','Clinical subtype','no definition available'),('98985','Early-onset sutural cataract','Clinical subtype','no definition available'),('98986','OBSOLETE: Coppock-like cataract','Clinical subtype','no definition available'),('98987','OBSOLETE: Cataract, Hutterite type','Clinical subtype','no definition available'),('98988','Early-onset anterior polar cataract','Clinical subtype','no definition available'),('98989','Cerulean cataract','Clinical subtype','A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.'),('98990','Coralliform cataract','Clinical subtype','no definition available'),('98991','Early-onset nuclear cataract','Clinical subtype','no definition available'),('98992','Early-onset partial cataract','Clinical subtype','no definition available'),('98993','Early-onset posterior polar cataract','Clinical subtype','no definition available'),('98994','Total early-onset cataract','Clinical subtype','no definition available'),('98995','Early-onset zonular cataract','Clinical subtype','no definition available'),('99','Autosomal dominant cerebellar ataxia','Category','A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.'),('990','Agnathia-holoprosencephaly-situs inversus syndrome','Malformation syndrome','An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.'),('99000','Adult-onset foveomacular vitelliform dystrophy','Disease','A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.'),('99001','Butterfly-shaped pigment dystrophy','Disease','A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.'),('99002','Reticular dystrophy of the retinal pigment epithelium','Disease','A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.'),('99003','Multifocal pattern dystrophy simulating fundus flavimaculatus','Disease','A rare, patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.'),('99004','Fundus pulverulentus','Disease','Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.'),('99012','OBSOLETE: Autosomal recessive optic atrophy, OPA6 type','Clinical subtype','no definition available'),('99013','Spastic paraplegia type 7','Disease','A form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.'),('99014','X-linked Charcot-Marie-Tooth disease type 5','Disease','X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.'),('99015','Spastic paraplegia type 2','Disease','A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.'),('99022','OBSOLETE: Niemann-Pick disease type E','Disease','no definition available'),('99027','Adult-onset autosomal dominant leukodystrophy','Disease','A rare, slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.'),('99042','Congenitally uncorrected transposition of the great arteries with coarctation','Clinical subtype','no definition available'),('99043','Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis','Clinical subtype','no definition available'),('99044','Double outlet right ventricle with subaortic ventricular septal defect','Clinical subtype','no definition available'),('99045','Double outlet right ventricle with subpulmonary ventricular septal defect','Clinical subtype','no definition available'),('99046','Double outlet right ventricle with non-committed subpulmonary ventricular septal defect','Clinical subtype','no definition available'),('99047','Double outlet right ventricle with doubly committed ventricular septal defect','Clinical subtype','no definition available'),('99048','Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome','Malformation syndrome','A rare, life-threatening, congenital, non-syndromic, conotruncal heart malformation disease characterized by absent or severely undeveloped pulmonary valve leaflets (with a restrictive ring of thickened tissue at the place of the pulmonary valve annulus), associated with an intact ventricular septum and a patent ductus arteriosus, manifesting with marked respiratory insufficiency. Additional features include dilated main pulmonary artery (with or without dilatation of pulmonary artery branches), to-and-fro flow at site of the dysplastic pulmonary valve, and systolic pressure gradient across narrowed pulmonary valve. Tricuspid atresia and variable extra-cardiac anomalies (e.g. diaphragmatic hernia or cleft lip/palate), may be present.'),('99049','Pulmonary artery coming from patent ductus arteriosus','Morphological anomaly','Pulmonary artery coming from patent ductus arteriosus is a rare, congenital, non-syndromic heart malformation characterized by the presence of a single (or a double) patent ductus arteriosus which associates one or both pulmonary arteries originating from it. Manifestations are variable, frequently presenting with neonatal cyanosis, severe progressive hypoxia, persistent pulmonary hypertension, increased susceptibility to pulmonary infections, and thoracic asymmetry resulting from asymmetric lung volumes.'),('99050','Abnormal origin of right or left pulmonary artery from the aorta','Morphological anomaly','A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.'),('99051','Discrete fixed membranous subaortic stenosis','Clinical subtype','no definition available'),('99052','Discrete fibromuscular subaortic stenosis','Clinical subtype','no definition available'),('99053','Tunnel subaortic stenosis','Clinical subtype','no definition available'),('99054','Valvular pulmonary stenosis','Clinical subtype','no definition available'),('99055','Congenital anomaly of the tricuspid valve chordae','Morphological anomaly','A rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.'),('99056','Parachute tricuspid valve','Morphological anomaly','Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic `pear` shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.'),('99057','Congenital mitral stenosis','Morphological anomaly','Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.'),('99058','Hypoplasia of the mitral valve annulus','Morphological anomaly','A rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.'),('99059','Congenital supravalvular mitral ring','Morphological anomaly','Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.'),('99060','Congenital unguarded mitral orifice','Morphological anomaly','Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.'),('99061','Accessory mitral valve tissue','Morphological anomaly','A congenital non-syndromic heart malformation characratized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.'),('99062','Mitral valve agenesis','Morphological anomaly','Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.'),('99063','Shone complex','Malformation syndrome','Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated.'),('99064','Straddling and/or overriding mitral valve','Clinical subtype','A rare, congenital, non-syndromic heart malformation characterized by an abnormal attachment of the mitral chordae to both ventricles. Straddling mitral valve is usually associated with conotruncal anomalies, most commonly double outlet right ventricle or transposition of the great arteries. Overriding mitral valve is characterized by a mitral annulus committed to the two ventricular chambers, where the mitral valve is shared between the ventricles. Straddling and overriding mitral valve can occur together or in isolation.'),('99066','OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome','Clinical subtype','no definition available'),('99067','Complete atrioventricular septal defect with ventricular hypoplasia','Clinical subtype','no definition available'),('99068','Complete atrioventricular septal defect-tetralogy of Fallot','Clinical subtype','no definition available'),('99069','Univentricular heart with single atrio-ventricular valve','Clinical subtype','An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.'),('99070','Aorto-right ventricular tunnel','Clinical subtype','no definition available'),('99071','Aorto-left ventricular tunnel','Clinical subtype','no definition available'),('99072','Congenital patent ductus arteriosus aneurysm','Morphological anomaly','A rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.'),('99075','Encircling double aortic arch','Morphological anomaly','Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.'),('99076','Persistent fifth aortic arch','Morphological anomaly','A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.'),('99077','Kommerell diverticulum','Morphological anomaly','Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.'),('99078','Neuhauser anomaly','Morphological anomaly','Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).'),('99079','Cervical aortic arch','Morphological anomaly','A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm.'),('99081','Right aortic arch','Morphological anomaly','no definition available'),('99082','Dysphagia lusoria','Morphological anomaly','no definition available'),('99083','Pulmonary artery hypoplasia','Morphological anomaly','A rare, congenital anomaly of the great arteries characterized by various clinical signs and symptoms, shortness of breath, including recurrent lower respiratory tract infections, lung hypoplasia, pulmonary hypertension, and haemoptysis. The anomaly can be isolated or associated with congenital heart disease, such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia.'),('99084','Peripheral pulmonary stenosis','Morphological anomaly','Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.'),('99085','OBSOLETE: Coronary artery intramyocardial course','Morphological anomaly','no definition available'),('99086','OBSOLETE: Aortopulmonary coronary arterial course','Morphological anomaly','no definition available'),('99087','Coronary ostial stenosis or atresia','Morphological anomaly','Congenital stenosis or atresia of the coronary ostium is a rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.'),('99088','OBSOLETE: Intramural coronary arterial course','Morphological anomaly','no definition available'),('99089','Abnormal number of coronary ostia','Morphological anomaly','A rare, congenital, non-syndromic heart malformation characterized by more or less than one coronary ostium at the left and at the right aortic sinus of Valsalva. It may be asymptomatic or it leads to myocardial ischemia and technical difficulties during coronary angiography.'),('99090','Malposition of a coronary ostium','Morphological anomaly','Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.'),('99092','Interventricular septum aneurysm','Morphological anomaly','Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.'),('99094','Laubry-Pezzi syndrome','Morphological anomaly','Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.'),('99095','Congenital Gerbode defect','Morphological anomaly','A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated.'),('99096','OBSOLETE: Multiple ventricular septal defects','Morphological anomaly','no definition available'),('99097','OBSOLETE: Single ventricular septal defect','Morphological anomaly','no definition available'),('99098','Cor triatriatum dexter','Morphological anomaly','A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend on the degree of right atrial septation and the size of sinoatrial orifice and vary from asymptomatic to symptoms of tricuspid valve stenosis, atrial fibrillation, cyanosis, syncope, elevated central venous pressure and right heart failure. The anomaly may be isolated or associated with other congenital heart anomalies.'),('99099','Cor triatriatum sinister','Morphological anomaly','A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins, the lower chamber is attached to the left atrial appendage blocking the mitral valve orifice and leading to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies.'),('991','PAGOD syndrome','Malformation syndrome','PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.'),('99100','Juxtaposition of the atrial appendages','Morphological anomaly','Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.'),('99101','Ectasia of the right atrial appendage','Morphological anomaly','Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.'),('99102','Ectasia of the left atrial appendage','Morphological anomaly','Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.'),('99103','Atrial septal defect, ostium secundum type','Clinical subtype','no definition available'),('99104','Atrial septal defect, coronary sinus type','Clinical subtype','no definition available'),('99105','Atrial septal defect, sinus venosus type','Clinical subtype','no definition available'),('99106','Atrial septal defect, ostium primum type','Clinical subtype','no definition available'),('99107','Atrial septal aneurysm','Morphological anomaly','no definition available'),('99108','NON RARE IN EUROPE: Patent foramen ovale','Morphological anomaly','no definition available'),('99109','Persistent left superior vena cava connecting through coronary sinus to left-sided atrium','Morphological anomaly','Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.'),('99110','Right superior vena cava connecting to left-sided atrium','Morphological anomaly','Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.'),('99111','Persistent left superior vena cava connecting to the roof of left-sided atrium','Morphological anomaly','no definition available'),('99112','Absence of innominate vein','Morphological anomaly','A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.'),('99113','Subaortic course of innominate vein','Morphological anomaly','Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.'),('99114','Agenesis of the superior vena cava','Morphological anomaly','A rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the superior vena cava (SVC). Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.'),('99117','Coronary sinus stenosis','Morphological anomaly','no definition available'),('99118','Coronary sinus atresia','Morphological anomaly','no definition available'),('99119','Right inferior vena cava connecting to left-sided atrium','Morphological anomaly','no definition available'),('99120','Persistent eustachian valve','Morphological anomaly','Persistent eustachian valve is a rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.'),('99121','Azygos continuation of the inferior vena cava','Morphological anomaly','no definition available'),('99122','Congenital stenosis of the inferior vena cava','Morphological anomaly','no definition available'),('99123','Inferior vena cava interruption without azygos continuation','Morphological anomaly','no definition available'),('99124','Congenital partial pulmonary venous return anomaly','Morphological anomaly','Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return (see this term) where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.'),('99125','Congenital total pulmonary venous return anomaly','Morphological anomaly','Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return (see this term)where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.'),('99126','OBSOLETE: Pulmonary vein atresia','Morphological anomaly','no definition available'),('99129','Congenital complete agenesis of pericardium','Morphological anomaly','Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.'),('99130','Congenital partial agenesis of pericardium','Morphological anomaly','Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.'),('99131','Pleuro-pericardial cyst','Morphological anomaly','Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.'),('99134','OBSOLETE: Intermediate stomatocytosis syndrome','Disease','no definition available'),('99135','6-phosphogluconate dehydrogenase deficiency','Disease','A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.'),('99138','Hemolytic anemia due to erythrocyte adenosine deaminase overproduction','Disease','Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.'),('99139','Unstable hemoglobin disease','Disease','A rare hemoglobinopathy characterized by variable degrees of hemolytic anemia, depending on the nature of the hemoglobin variant. In symptomatic patients, clinical manifestations are jaundice, splenomegaly, and, in patients with severe anemia, pallor. Additional features include reticulocytosis, presence of Heinz bodies, and pigmenturia.'),('99141','Lymphedema-posterior choanal atresia syndrome','Malformation syndrome','no definition available'),('99143','OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome','Disease','no definition available'),('99146','OBSOLETE: Platelet function disease associated with renal insufficiency','Disease','no definition available'),('99147','Acquired von Willebrand syndrome','Disease','A rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.'),('99151','NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging','Disease','no definition available'),('99169','Epiblepharon','Morphological anomaly','no definition available'),('99170','Tarsal kink syndrome','Morphological anomaly','Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.'),('99171','Isolated congenital ectropion','Morphological anomaly','Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.'),('99172','Euryblepharon','Morphological anomaly','Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.'),('99176','Congenital eyelid retraction','Morphological anomaly','Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.'),('99177','Isolated distichiasis','Morphological anomaly','Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.'),('99179','Kandori fleck retina','Malformation syndrome','Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.'),('99226','Monosomy X','Etiological subtype','no definition available'),('99228','Mosaic monosomy X','Etiological subtype','no definition available'),('99324','Paternal uniparental disomy of chromosome 13','Malformation syndrome','Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.'),('99329','48,XYYY syndrome','Malformation syndrome','A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.'),('99330','49,XYYYY syndrome','Malformation syndrome','49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set `lop` ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.'),('99361','Familial medullary thyroid carcinoma','Clinical subtype','no definition available'),('994','Fetal akinesia deformation sequence','Malformation syndrome','The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.'),('99408','Pituitary adenoma','Clinical group','no definition available'),('99413','Turner syndrome due to structural X chromosome anomalies','Etiological subtype','no definition available'),('99429','Complete androgen insensitivity syndrome','Disease','Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.'),('995','X-linked fetal akinesia syndrome','Malformation syndrome','no definition available'),('99642','Spondyloepimetaphyseal dysplasia, Handigodu type','Disease','Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.'),('99645','Dappled diaphyseal dysplasia','Disease','no definition available'),('99646','Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria','Disease','Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.'),('99647','Cheirospondyloenchondromatosis','Disease','Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.'),('99648','OBSOLETE: Non-progressive congenital heart block','Disease','no definition available'),('99649','OBSOLETE: Generalized epilepsy and praxis-induced seizures','Disease','no definition available'),('99650','OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy','Clinical group','no definition available'),('99651','OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder','Clinical group','no definition available'),('99654','OBSOLETE: Fibrocalculous pancreatopathy','Disease','no definition available'),('99657','Primary dystonia, DYT2 type','Disease','Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.'),('99662','OBSOLETE: Posterior fossa tumors','Disease','no definition available'),('99663','OBSOLETE: Vestibular torticollis','Disease','no definition available'),('99664','OBSOLETE: Trochlear nerve palsy','Disease','no definition available'),('99665','NON RARE IN EUROPE: Ventral hernia','Disease','no definition available'),('99666','OBSOLETE: Atlantoaxial subluxation','Disease','no definition available'),('99672','Fried`s tooth and nail syndrome','Malformation syndrome','A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.'),('99688','Dermotrichic syndrome','Malformation syndrome','Dermotrichic syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.'),('99694','Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome','Malformation syndrome','no definition available'),('99701','Mesial temporal lobe epilepsy with hippocampal sclerosis','Disease','Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.'),('99706','OBSOLETE: Progeria-associated arthropathy','Disease','no definition available'),('99710','Punctate acrokeratoderma freckle-like pigmentation','Disease','no definition available'),('99715','MASS syndrome','Clinical subtype','no definition available'),('99718','Leber plus disease','Disease','Leber `plus` disease describes patients with the clinical features of Leber`s hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.'),('99722','OBSOLETE: Sporadic achalasia','Clinical subtype','no definition available'),('99723','OBSOLETE: Familial esophageal achalasia','Clinical subtype','no definition available'),('99725','Pituitary gigantism','Disease','A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.'),('99731','Isolated sulfite oxidase deficiency','Clinical subtype','no definition available'),('99732','Sulfite oxidase deficiency due to molybdenum cofactor deficiency','Clinical subtype','no definition available'),('99734','Myotonia fluctuans','Disease','Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.'),('99735','Myotonia permanens','Disease','Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).'),('99736','Acetazolamide-responsive myotonia','Disease','A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).'),('99739','Rare familial disorder with hypertrophic cardiomyopathy','Category','no definition available'),('99741','King-Denborough syndrome','Malformation syndrome','King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.'),('99742','Amish lethal microcephaly','Malformation syndrome','A very rare syndrome characterized by extreme microcephaly and early death, within the first year.'),('99745','Typhoid','Disease','Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria Salmonella typhi and characterized by a non-focal fever.'),('99748','Pontiac fever','Clinical subtype','Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.'),('99749','Kostmann syndrome','Disease','Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.'),('99750','Atypical progressive supranuclear palsy syndrome','Clinical subtype','A group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).'),('99756','Alveolar rhabdomyosarcoma','Clinical subtype','no definition available'),('99757','Embryonal rhabdomyosarcoma','Clinical subtype','no definition available'),('99763','OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1','Etiological subtype','no definition available'),('99764','OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2','Etiological subtype','no definition available'),('99771','Bifid uvula','Morphological anomaly','Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.'),('99772','Cleft velum','Morphological anomaly','Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.'),('99776','Mosaic trisomy 9','Malformation syndrome','Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.'),('99777','Achalasia-alacrimia syndrome','Disease','no definition available'),('99781','OBSOLETE: Familial articular chondrocalcinosis type 1','Clinical subtype','no definition available'),('99782','OBSOLETE: Familial articular chondrocalcinosis type 2','Clinical subtype','no definition available'),('99789','Dentin dysplasia type I','Clinical subtype','Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.'),('99791','Dentin dysplasia type II','Clinical subtype','Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition.'),('99792','Dentin dysplasia-sclerotic bones syndrome','Disease','Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.'),('99796','Subcortical band heterotopia','Morphological anomaly','A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.'),('99797','Anodontia','Morphological anomaly','An extreme developmental dental anomaly characterized by the complete absence of all teeth.'),('99798','Oligodontia','Morphological anomaly','Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.'),('998','Albinism-deafness syndrome','Malformation syndrome','A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.'),('99802','Hemimegalencephaly','Malformation syndrome','Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.'),('99803','Haddad syndrome','Malformation syndrome','Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).'),('99806','Oculootodental syndrome','Malformation syndrome','A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.'),('99807','PEHO-like syndrome','Disease','PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.'),('99810','Familial porencephaly','Etiological subtype','no definition available'),('99811','Neuronal intestinal pseudoobstruction','Etiological subtype','Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.'),('99812','LIG4 syndrome','Disease','LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).'),('99817','Non-polyposis Turcot syndrome','Clinical subtype','no definition available'),('99818','Turcot syndrome with polyposis','Clinical subtype','Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.'),('99819','Familial gestational hyperthyroidism','Disease','no definition available'),('99824','Lassa fever','Disease','Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.'),('99825','Nipah virus disease','Disease','Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.'),('99826','Marburg hemorrhagic fever','Disease','Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.'),('99827','Crimean-Congo hemorrhagic fever','Disease','Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.'),('99828','Dengue fever','Disease','Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).'),('99829','Yellow fever','Disease','Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.'),('99831','OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect','Etiological subtype','no definition available'),('99832','Resistance to thyrotropin-releasing hormone syndrome','Disease','Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.'),('99842','Leukocyte adhesion deficiency type I','Clinical subtype','Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.'),('99843','Leukocyte adhesion deficiency type II','Clinical subtype','Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.'),('99844','Leukocyte adhesion deficiency type III','Clinical subtype','Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.'),('99845','Genetic recurrent myoglobinuria','Disease','Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.'),('99846','Autosomal dominant myoglobinuria','Disease','A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.'),('99849','Glycogen storage disease due to muscle beta-enolase deficiency','Disease','Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.'),('99852','Ravine syndrome','Disease','Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.'),('99853','Ovarioleukodystrophy','Clinical subtype','no definition available'),('99854','Cree leukoencephalopathy','Clinical subtype','no definition available'),('99856','Primary syringomyelia','Morphological anomaly','A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.'),('99857','Secondary syringomyelia','Disease','Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.'),('99858','Idiopathic syringomyelia','Clinical subtype','Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.'),('99859','OBSOLETE: Posttraumatic syringomyelia','Clinical subtype','no definition available'),('99860','Precursor B-cell acute lymphoblastic leukemia','Disease','no definition available'),('99861','Precursor T-cell acute lymphoblastic leukemia','Disease','no definition available'),('99864','OBSOLETE: Classic seminoma','Clinical subtype','no definition available'),('99865','Spermatocytic seminoma','Disease','Spermatocytic seminoma (SS) is an extremely rare form of testicular cancer distinguished from testicular seminomatous germ cell tumors (see this term) by a very low rate of metastasis and lack of an ovarian equivalent.'),('99866','OBSOLETE: Metastatic spermatocytic seminoma','Clinical subtype','no definition available'),('99867','Thymoma','Disease','Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.'),('99868','Thymic carcinoma','Disease','Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential.'),('99869','Thymic neuroendocrine carcinoma','Disease','Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation.'),('99870','OBSOLETE: Letterer-Siwe disease','Clinical subtype','no definition available'),('99871','OBSOLETE: Eosinophilic granuloma','Clinical subtype','no definition available'),('99872','OBSOLETE: Hashimoto-Pritzker syndrome','Clinical subtype','no definition available'),('99873','OBSOLETE: Hand-Schüller-Christian disease','Clinical subtype','no definition available'),('99874','OBSOLETE: Adult pulmonary Langerhans cell histiocytosis','Clinical subtype','no definition available'),('99875','OBSOLETE: Ehlers-Danlos syndrome type 7A','Etiological subtype','no definition available'),('99876','OBSOLETE: Ehlers-Danlos syndrome type 7B','Etiological subtype','no definition available'),('99877','Familial parathyroid adenoma','Disease','no definition available'),('99878','Primary parathyroid hyperplasia','Disease','no definition available'),('99879','Familial isolated hyperparathyroidism','Disease','A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.'),('99880','Hyperparathyroidism-jaw tumor syndrome','Disease','no definition available'),('99885','Permanent neonatal diabetes mellitus','Disease','Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.'),('99886','Transient neonatal diabetes mellitus','Disease','Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.'),('99887','Acute megakaryoblastic leukemia in Down syndrome','Clinical subtype','no definition available'),('99888','NON RARE IN EUROPE: Adrenocortical adenoma','Disease','no definition available'),('99889','Cushing syndrome due to ectopic ACTH secretion','Disease','Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.'),('99892','ACTH-dependent Cushing syndrome','Clinical group','A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).'),('99893','ACTH-independent Cushing syndrome','Clinical group','A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).'),('99898','Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency','Disease','Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).'),('999','Ermine phenotype','Malformation syndrome','Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.'),('99900','Long chain acyl-CoA dehydrogenase deficiency','Disease','no definition available'),('99901','Acyl-CoA dehydrogenase 9 deficiency','Disease','A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.'),('99903','Spirillary rat-bite fever','Etiological subtype','Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.'),('99905','Streptobacillary rat-bite fever','Etiological subtype','Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic Gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.'),('99906','Farmer`s lung disease','Disease','Farmer`s lung disease is the main form of occupational hypersensitivity pneumonitis (see this term), caused by chronic inhalation of microorganisms, often thermophilic actinomycetes and less commonly saccharopolyspora rectivirgula, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course'),('99907','House allergic alveolitis','Disease','House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis (see this term).'),('99908','Pigeon-breeder lung disease','Disease','Pigeon-breeder`s lung disease, also called bird fancier’s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss.'),('99909','Occupational allergic alveolitis','Clinical group','Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise'),('99912','Malignant dysgerminomatous germ cell tumor of the ovary','Disease','Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary (see this term), arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.'),('99913','Extragonadal non-dysgerminomatous germ cell tumor','Category','no definition available'),('99914','Gynandroblastoma','Disease','no definition available'),('99915','Maligant granulosa cell tumor of the ovary','Disease','Malignant granulosa cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) arising from the granulosa cells of the ovary, which occurs in peri and post menopausal women, and that presents with abnormal vaginal bleeding, abdominal pain and distension. The tumor is frequently unilateral, estrogen secreting, and has a slow natural history and a tendency to relapse long after the initial diagnosis, necessitating prolonged follow-up.'),('99916','Malignant Sertoli-Leydig cell tumor of the ovary','Disease','Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.'),('99917','Theca steroid-producing cell malignant tumor of ovary, not further specified','Disease','Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary (see this term) of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome (see this term).'),('99918','Streptococcal toxic-shock syndrome','Etiological subtype','Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.'),('99919','Staphylococcal toxic-shock syndrome','Etiological subtype','Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.'),('99920','Acute graft versus host disease','Clinical subtype','no definition available'),('99921','Chronic graft versus host disease','Clinical subtype','no definition available'),('99922','Ocular cicatricial pemphigoid','Disease','Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.'),('99925','Invasive mole','Disease','An invasive mole is a gestational trophoblastic tumor (GTT; see this term) derived from a hydatidiform mole (see this term) extending into the myometrium.'),('99926','Gestational choriocarcinoma','Disease','Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT; see this term) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole (see this term).'),('99927','Hydatidiform mole','Disease','A hydatidiform mole is a benign gestational trophoblastic disease developing during pregnancy. Resulting from an abnormal fertilization characterized by trophoblastic proliferation, normal embryo development is rendered impossible. Hydatidiform moles can be either complete or partial.'),('99928','Placental site trophoblastic tumor','Disease','Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT; see this term) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.'),('99930','Secondary pulmonary hemosiderosis','Disease','Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography'),('99931','Idiopathic pulmonary hemosiderosis','Disease','Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.'),('99932','Heiner syndrome','Clinical subtype','Heiner syndrome, also called cow`s milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow`s milk from the diet.'),('99933','Pleuropulmonary blastoma type 1','Clinical subtype','no definition available'),('99934','Pleuropulmonary blastoma type 2','Clinical subtype','no definition available'),('99935','Pleuropulmonary blastoma type 3','Clinical subtype','no definition available'),('99936','Autosomal dominant Charcot-Marie-Tooth disease type 2B','Disease','A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.'),('99937','Autosomal dominant Charcot-Marie-Tooth disease type 2C','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.'),('99938','Autosomal dominant Charcot-Marie-Tooth disease type 2D','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.'),('99939','Autosomal dominant Charcot-Marie-Tooth disease type 2E','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.'),('99940','Autosomal dominant Charcot-Marie-Tooth disease type 2F','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.'),('99941','Autosomal dominant Charcot-Marie-Tooth disease type 2G','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. This disorder has a slowly progressive course.'),('99942','Autosomal dominant Charcot-Marie-Tooth disease type 2I','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.'),('99943','Autosomal dominant Charcot-Marie-Tooth disease type 2J','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.'),('99944','Autosomal dominant Charcot-Marie-Tooth disease type 2K','Disease','An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.'),('99945','Autosomal dominant Charcot-Marie-Tooth disease type 2L','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.'),('99946','Autosomal dominant Charcot-Marie-Tooth disease type 2A1','Disease','A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.'),('99947','Autosomal dominant Charcot-Marie-Tooth disease type 2A2','Disease','A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.'),('99948','Charcot-Marie-Tooth disease type 4A','Disease','Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.'),('99949','Charcot-Marie-Tooth disease type 4C','Disease','Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.'),('99950','Charcot-Marie-Tooth disease type 4D','Disease','Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.'),('99951','Charcot-Marie-Tooth disease type 4E','Disease','Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.'),('99952','Charcot-Marie-Tooth disease type 4F','Disease','Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.'),('99953','Charcot-Marie-Tooth disease type 4G','Disease','Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.'),('99954','Charcot-Marie-Tooth disease type 4H','Disease','Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.'),('99955','Charcot-Marie-Tooth disease type 4B1','Disease','Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).'),('99956','Charcot-Marie-Tooth disease type 4B2','Disease','Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.'),('99960','Benign recurrent intrahepatic cholestasis type 1','Clinical subtype','no definition available'),('99961','Benign recurrent intrahepatic cholestasis type 2','Clinical subtype','no definition available'),('99965','O`Sullivan-McLeod syndrome','Clinical subtype','O` Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA; see this term), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.'),('99966','Atypical teratoid rhabdoid tumor','Clinical subtype','A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.'),('99967','Myxoid/round cell liposarcoma','Histopathological subtype','Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.'),('99969','Pleomorphic liposarcoma','Histopathological subtype','Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms).'),('99970','Dedifferentiated liposarcoma','Histopathological subtype','Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .'),('99971','Well-differentiated liposarcoma','Histopathological subtype','Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.'),('99972','OBSOLETE: Immunoglobulin A1 deficiency','Disease','no definition available'),('99973','OBSOLETE: Immunoglobulin A2 deficiency','Disease','no definition available'),('99974','OBSOLETE: TACI-related selective deficiency of IgA','Clinical subtype','no definition available'),('99976','Adenocarcinoma of the esophagus','Disease','Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.'),('99977','Squamous cell carcinoma of the esophagus','Disease','Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.'),('99978','Klatskin tumor','Disease','Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.'),('99981','Apnea of prematurity','Clinical subtype','A developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.'),('99983','Cutaneous myiasis','Category','no definition available'),('99985','OBSOLETE: Familial restrictive cardiomyopathy type 1','Etiological subtype','no definition available'),('99986','OBSOLETE: Familial restrictive cardiomyopathy type 2','Etiological subtype','no definition available'),('99987','OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome','Clinical subtype','no definition available'),('99989','Intermediate DEND syndrome','Clinical subtype','Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.'),('99990','Brill-Zinsser disease','Clinical subtype','no definition available'),('99991','Relapsing epidemic typhus','Clinical subtype','no definition available'),('99994','Complex regional pain syndrome type 2','Clinical subtype','Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia , not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.'),('99995','Complex regional pain syndrome type 1','Clinical subtype','Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome (see this term) in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.'); +/*!40000 ALTER TABLE `Disease` ENABLE KEYS */; +UNLOCK TABLES; + +-- +-- Table structure for table `Symptom` +-- + +DROP TABLE IF EXISTS `Symptom`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `Symptom` ( + `id` varchar(255) NOT NULL, + `symptom_name` varchar(255) DEFAULT NULL, + `definition` text DEFAULT NULL, + PRIMARY KEY (`id`) +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `Symptom` +-- + +LOCK TABLES `Symptom` WRITE; +/*!40000 ALTER TABLE `Symptom` DISABLE KEYS */; +INSERT INTO `Symptom` VALUES ('HP:0000001','All',''),('HP:0000002','Abnormality of body height','Deviation from the norm of height with respect to that which is expected according to age and gender norms.'),('HP:0000003','Multicystic kidney dysplasia','Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.'),('HP:0000005','Mode of inheritance','The pattern in which a particular genetic trait or disorder is passed from one generation to the next.'),('HP:0000006','Autosomal dominant inheritance','A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.'),('HP:0000007','Autosomal recessive inheritance','A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).'),('HP:0000008','Abnormal morphology of female internal genitalia','An abnormality of the female internal genitalia.'),('HP:0000009','Functional abnormality of the bladder','Dysfunction of the urinary bladder.'),('HP:0000010','Recurrent urinary tract infections','Repeated infections of the urinary tract.'),('HP:0000011','Neurogenic bladder','A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.'),('HP:0000012','Urinary urgency','Urge incontinence is the strong, sudden need to urinate.'),('HP:0000013','Hypoplasia of the uterus','Underdevelopment of the uterus.'),('HP:0000014','Abnormality of the bladder','An abnormality of the urinary bladder.'),('HP:0000015','Bladder diverticulum','Diverticulum (sac or pouch) in the wall of the urinary bladder.'),('HP:0000016','Urinary retention','Inability to completely empty the urinary bladder during the process of urination.'),('HP:0000017','Nocturia','Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.'),('HP:0000019','Urinary hesitancy','Difficulty in beginning the process of urination.'),('HP:0000020','Urinary incontinence','Loss of the ability to control the urinary bladder leading to involuntary urination.'),('HP:0000021','Megacystis','Dilatation of the bladder postnatally.'),('HP:0000022','Abnormality of male internal genitalia','An abnormality of the male internal genitalia.'),('HP:0000023','Inguinal hernia','Protrusion of the contents of the abdominal cavity through the inguinal canal.'),('HP:0000024','Prostatitis','The presence of inflammation of the prostate.'),('HP:0000025','Functional abnormality of male internal genitalia',''),('HP:0000026','Male hypogonadism','Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.'),('HP:0000027','Azoospermia','Absence of any measurable level of sperm in his semen.'),('HP:0000028','Cryptorchidism','Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.'),('HP:0000029','Testicular atrophy','Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.'),('HP:0000030','Testicular gonadoblastoma','The presence of a gonadoblastoma of the testis.'),('HP:0000031','Epididymitis','The presence of inflammation of the epididymis.'),('HP:0000032','Abnormality of male external genitalia','An abnormality of male external genitalia.'),('HP:0000033','Ambiguous genitalia, male','Ambiguous genitalia in an individual with XY genetic gender.'),('HP:0000034','Hydrocele testis','Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.'),('HP:0000035','Abnormal testis morphology','An anomaly of the testicle (the male gonad).'),('HP:0000036','Abnormality of the penis',''),('HP:0000037','Male pseudohermaphroditism','Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.'),('HP:0000039','Epispadias','Displacement of the urethral opening on the dorsal (superior) surface of the penis.'),('HP:0000040','Long penis','Penile length more than 2 SD above the mean for age.'),('HP:0000041','Chordee','Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.'),('HP:0000042','Absent external genitalia','Lack of external genitalia in a male or female individual.'),('HP:0000044','Hypogonadotropic hypogonadism','Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).'),('HP:0000045','Abnormality of the scrotum',''),('HP:0000046','Scrotal hypoplasia',''),('HP:0000047','Hypospadias','Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.'),('HP:0000048','Bifid scrotum','Midline indentation or cleft of the scrotum.'),('HP:0000049','Shawl scrotum','Superior margin of the scrotum superior to the base of the penis.'),('HP:0000050','Hypoplastic male external genitalia','Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).'),('HP:0000051','Perineal hypospadias','Hypospadias with location of the urethral meatus in the perineal region.'),('HP:0000052','Urethral atresia, male','Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.'),('HP:0000053','Macroorchidism','The presence of abnormally large testes.'),('HP:0000054','Micropenis','Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.'),('HP:0000055','Abnormality of female external genitalia','An abnormality of the female external genitalia.'),('HP:0000056','Abnormality of the clitoris','An abnormality of the clitoris.'),('HP:0000057','obsolete Clitoromegaly',''),('HP:0000058','Abnormality of the labia','An anomaly of the labia, the externally visible portions of the vulva.'),('HP:0000059','Hypoplastic labia majora','Undergrowth of the outer labia.'),('HP:0000060','Clitoral hypoplasia','Developmental hypoplasia of the clitoris.'),('HP:0000061','Ambiguous genitalia, female','Ambiguous genitalia in an individual with XX genetic gender.'),('HP:0000062','Ambiguous genitalia','A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.'),('HP:0000063','Fused labia minora','Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.'),('HP:0000064','Hypoplastic labia minora',''),('HP:0000065','Labial hypertrophy',''),('HP:0000066','Labial hypoplasia',''),('HP:0000067','Urethral atresia, female','Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.'),('HP:0000068','Urethral atresia','Congenital anomaly characterized by closure or failure to develop an opening in the urethra.'),('HP:0000069','Abnormality of the ureter','An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.'),('HP:0000070','Ureterocele','A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.'),('HP:0000071','Ureteral stenosis','The presence of a stenotic, i.e., constricted ureter.'),('HP:0000072','Hydroureter','The distention of the ureter with urine.'),('HP:0000073','Ureteral duplication','A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.'),('HP:0000074','Ureteropelvic junction obstruction','Blockage of urine flow from the renal pelvis to the proximal ureter.'),('HP:0000075','Renal duplication','A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.'),('HP:0000076','Vesicoureteral reflux','Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.'),('HP:0000077','Abnormality of the kidney','An abnormality of the kidney.'),('HP:0000078','Abnormality of the genital system','An abnormality of the genital system.'),('HP:0000079','Abnormality of the urinary system','An abnormality of the urinary system.'),('HP:0000080','Abnormality of reproductive system physiology','An abnormal functionality of the genital system.'),('HP:0000081','Duplicated collecting system','A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.'),('HP:0000083','Renal insufficiency','A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.'),('HP:0000085','Horseshoe kidney','A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.'),('HP:0000086','Ectopic kidney','A developmental defect in which a kidney is located in an abnormal anatomic position.'),('HP:0000089','Renal hypoplasia','Hypoplasia of the kidney.'),('HP:0000090','Nephronophthisis','Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.'),('HP:0000091','Abnormal renal tubule morphology','An abnormality of the renal tubules.'),('HP:0000092','Renal tubular atrophy','The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.'),('HP:0000093','Proteinuria','Increased levels of protein in the urine.'),('HP:0000095','Abnormality of renal glomerulus morphology','A structural anomaly of the glomerulus.'),('HP:0000096','Glomerulosclerosis','Accumulation of scar tissue within the glomerulus.'),('HP:0000097','Focal segmental glomerulosclerosis','Segmental accumulation of scar tissue in individual (but not all) glomeruli.'),('HP:0000098','Tall stature','A height above that which is expected according to age and gender norms.'),('HP:0000099','Glomerulonephritis','Inflammation of the renal glomeruli.'),('HP:0000100','Nephrotic syndrome','Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.'),('HP:0000103','Polyuria','An increased rate of urine production.'),('HP:0000104','Renal agenesis','Agenesis, that is, failure of the kidney to develop during embryogenesis and development.'),('HP:0000105','Enlarged kidney','An abnormal increase in the size of the kidney.'),('HP:0000107','Renal cyst','A fluid filled sac in the kidney.'),('HP:0000108','Renal corticomedullary cysts','The presence of multiple cysts at the border between the renal cortex and medulla.'),('HP:0000110','Renal dysplasia','The presence of developmental dysplasia of the kidney.'),('HP:0000111','Renal juxtaglomerular cell hypertrophy/hyperplasia','Increased number and size of the juxtaglomerular cells.'),('HP:0000112','Nephropathy','A nonspecific term referring to disease or damage of the kidneys.'),('HP:0000113','Polycystic kidney dysplasia','The presence of multiple cysts in both kidneys.'),('HP:0000114','Proximal tubulopathy','Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman`s capsule to the loop of Henle.'),('HP:0000117','Renal phosphate wasting','High urine phosphate in the presence of hypophosphatemia.'),('HP:0000118','Phenotypic abnormality','A phenotypic abnormality.'),('HP:0000119','Abnormality of the genitourinary system','The presence of any abnormality of the genitourinary system.'),('HP:0000121','Nephrocalcinosis','Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.'),('HP:0000122','Unilateral renal agenesis','A unilateral form of agenesis of the kidney.'),('HP:0000123','Nephritis','The presence of inflammation affecting the kidney.'),('HP:0000124','Renal tubular dysfunction','Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.'),('HP:0000125','Pelvic kidney','A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.'),('HP:0000126','Hydronephrosis','Severe distention of the kidney with dilation of the renal pelvis and calices.'),('HP:0000127','Renal salt wasting','A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).'),('HP:0000128','Renal potassium wasting','High urine potassium in the presence of hypokalemia.'),('HP:0000130','Abnormality of the uterus','An abnormality of the uterus.'),('HP:0000131','Uterine leiomyoma','The presence of a leiomyoma of the uterus.'),('HP:0000132','Menorrhagia','Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.'),('HP:0000133','Gonadal dysgenesis',''),('HP:0000134','Female hypogonadism','Decreased functionality of the female gonads, i.e., of the ovary.'),('HP:0000135','Hypogonadism','A decreased functionality of the gonad.'),('HP:0000136','Bifid uterus','The presence of a bifid uterus.'),('HP:0000137','Abnormality of the ovary','An abnormality of the ovary.'),('HP:0000138','Ovarian cyst','The presence of one or more cysts of the ovary.'),('HP:0000139','Uterine prolapse','The presence of prolapse of the uterus.'),('HP:0000140','Abnormality of the menstrual cycle','An abnormality of the ovulation cycle.'),('HP:0000141','Amenorrhea','Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.'),('HP:0000142','Abnormal vagina morphology','Any structural abnormality of the vagina.'),('HP:0000143','Rectovaginal fistula','The presence of a fistula between the vagina and the rectum.'),('HP:0000144','Decreased fertility',''),('HP:0000145','Transverse vaginal septum',''),('HP:0000147','Polycystic ovaries',''),('HP:0000148','Vaginal atresia','Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.'),('HP:0000149','Ovarian gonadoblastoma','The presence of a gonadoblastoma of the ovary.'),('HP:0000150','Gonadoblastoma','The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.'),('HP:0000151','Aplasia of the uterus','Aplasia of the uterus.'),('HP:0000152','Abnormality of head or neck','An abnormality of head and neck.'),('HP:0000153','Abnormality of the mouth','An abnormality of the mouth.'),('HP:0000154','Wide mouth','Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).'),('HP:0000155','Oral ulcer','Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.'),('HP:0000157','Abnormality of the tongue','Any abnormality of the tongue.'),('HP:0000158','Macroglossia','Increased length and width of the tongue.'),('HP:0000159','Abnormal lip morphology','An abnormality of the lip.'),('HP:0000160','Narrow mouth','Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).'),('HP:0000161','Median cleft lip','A type of cleft lip presenting as a midline (median) gap in the upper lip.'),('HP:0000162','Glossoptosis','Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.'),('HP:0000163','Abnormal oral cavity morphology','Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.'),('HP:0000164','Abnormality of the dentition','Any abnormality of the teeth.'),('HP:0000166','Severe periodontitis','A severe form of periodontitis.'),('HP:0000168','Abnormality of the gingiva','Any abnormality of the gingiva (also known as gums).'),('HP:0000169','Gingival fibromatosis','The presence of fibrosis of the gingiva.'),('HP:0000171','Microglossia','Decreased length and width of the tongue.'),('HP:0000172','Abnormality of the uvula','Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.'),('HP:0000174','Abnormal palate morphology','Any abnormality of the palate, i.e., of roof of the mouth.'),('HP:0000175','Cleft palate','Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).'),('HP:0000176','Submucous cleft hard palate','Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.'),('HP:0000177','Abnormality of upper lip','An abnormality of the upper lip.'),('HP:0000178','Abnormality of lower lip','An abnormality of the lower lip.'),('HP:0000179','Thick lower lip vermilion','Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).'),('HP:0000180','Lobulated tongue','Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.'),('HP:0000182','Movement abnormality of the tongue',''),('HP:0000183','Difficulty in tongue movements',''),('HP:0000185','Cleft soft palate','Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.'),('HP:0000187','Broad alveolar ridges',''),('HP:0000188','Short upper lip','Decreased width of the upper lip.'),('HP:0000189','Narrow palate','Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).'),('HP:0000190','Abnormal oral frenulum morphology','An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.'),('HP:0000191','Accessory oral frenulum','Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.'),('HP:0000193','Bifid uvula','Uvula separated into two parts most easily seen at the tip.'),('HP:0000194','Open mouth','A facial appearance characterized by a permanently or nearly permanently opened mouth.'),('HP:0000196','Lower lip pit','Depression located on the vermilion of the lower lip, usually paramedian.'),('HP:0000197','Abnormal parotid gland morphology','Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.'),('HP:0000198','Absence of Stensen duct',''),('HP:0000199','Tongue nodules',''),('HP:0000200','Short lingual frenulum','The presence of an abnormally short lingual frenulum.'),('HP:0000201','Pierre-Robin sequence','Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.'),('HP:0000202','Oral cleft','The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.'),('HP:0000204','Cleft upper lip','A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.'),('HP:0000205','Pursed lips','An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.'),('HP:0000206','Glossitis','Inflammation of the tongue.'),('HP:0000207','Triangular mouth','The presence of a triangular form of the mouth.'),('HP:0000211','Trismus','Limitation in the ability to open the mouth.'),('HP:0000212','Gingival overgrowth','Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.'),('HP:0000214','Lip telangiectasia','Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.'),('HP:0000215','Thick upper lip vermilion','Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).'),('HP:0000216','Broad secondary alveolar ridge',''),('HP:0000217','Xerostomia','Dryness of the mouth due to salivary gland dysfunction.'),('HP:0000218','High palate','Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).'),('HP:0000219','Thin upper lip vermilion','Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).'),('HP:0000220','Velopharyngeal insufficiency','Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.'),('HP:0000221','Furrowed tongue','Accentuation of the grooves on the dorsal surface of the tongue.'),('HP:0000222','Gingival hyperkeratosis','Hyperkeratosis of the gingiva.'),('HP:0000223','Abnormality of taste sensation',''),('HP:0000224','Decreased taste sensation',''),('HP:0000225','Gingival bleeding','Hemorrhage affecting the gingiva.'),('HP:0000227','Tongue telangiectasia','Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.'),('HP:0000228','Oral cavity telangiectasia','Presence of telangiectases in the oral cavity.'),('HP:0000230','Gingivitis','Inflammation of the gingiva.'),('HP:0000232','Everted lower lip vermilion','An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.'),('HP:0000233','Thin vermilion border','Reduced width of the skin of vermilion border region of upper lip.'),('HP:0000234','Abnormality of the head','An abnormality of the head.'),('HP:0000235','Abnormality of the fontanelles or cranial sutures','Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ).'),('HP:0000236','Abnormality of the anterior fontanelle','An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.'),('HP:0000237','Small anterior fontanelle','Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.'),('HP:0000238','Hydrocephalus','Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.'),('HP:0000239','Large fontanelles','In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.'),('HP:0000240','Abnormality of skull size','Any abnormality of the size of the skull.'),('HP:0000242','Parietal bossing','Parietal bossing is a marked prominence in the parietal region.'),('HP:0000243','Trigonocephaly','Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.'),('HP:0000244','Brachyturricephaly','Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.'),('HP:0000245','Abnormality of the paranasal sinuses','Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.'),('HP:0000246','Sinusitis','Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.'),('HP:0000248','Brachycephaly','An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.'),('HP:0000250','Dense calvaria','An abnormal increase of density of the bones making up the calvaria.'),('HP:0000252','Microcephaly','Head circumference below 2 standard deviations below the mean for age and gender.'),('HP:0000253','Progressive microcephaly','Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.'),('HP:0000255','Acute sinusitis','An acute form of sinusitis.'),('HP:0000256','Macrocephaly','Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.'),('HP:0000260','Wide anterior fontanel','Enlargement of the anterior fontanelle with respect to age-dependent norms.'),('HP:0000262','Turricephaly','Tall head relative to width and length.'),('HP:0000263','Oxycephaly','Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.'),('HP:0000264','Abnormality of the mastoid','An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.'),('HP:0000265','Mastoiditis',''),('HP:0000267','Cranial asymmetry','Asymmetry of the bones of the skull.'),('HP:0000268','Dolichocephaly','An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.'),('HP:0000269','Prominent occiput','Increased convexity of the occiput (posterior part of the skull).'),('HP:0000270','Delayed cranial suture closure','Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.'),('HP:0000271','Abnormality of the face','An abnormality of the face.'),('HP:0000272','Malar flattening','Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.'),('HP:0000273','Facial grimacing',''),('HP:0000274','Small face','A face that is short (HP:0011219) and narrow (HP:0000275).'),('HP:0000275','Narrow face','Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).'),('HP:0000276','Long face','Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).'),('HP:0000277','Abnormality of the mandible','Any abnormality of the mandible, the bone of the lower jaw.'),('HP:0000278','Retrognathia','An abnormality in which the mandible is mislocalised posteriorly.'),('HP:0000280','Coarse facial features','Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.'),('HP:0000282','Facial edema',''),('HP:0000283','Broad face','Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).'),('HP:0000284','obsolete Abnormality of the ocular region',''),('HP:0000286','Epicanthus','A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.'),('HP:0000287','Increased facial adipose tissue','An increased amount of subcutaneous fat tissue in the face.'),('HP:0000288','Abnormality of the philtrum','An abnormality of the philtrum.'),('HP:0000289','Broad philtrum','Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.'),('HP:0000290','Abnormality of the forehead','An anomaly of the forehead.'),('HP:0000291','Abnormality of facial adipose tissue',''),('HP:0000292','Loss of facial adipose tissue','Loss of normal subcutaneous fat tissue in the face.'),('HP:0000293','Full cheeks','Increased prominence or roundness of soft tissues between zygomata and mandible.'),('HP:0000294','Low anterior hairline','Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.'),('HP:0000295','Doll-like facies','A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.'),('HP:0000297','Facial hypotonia','Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).'),('HP:0000298','Mask-like facies','A lack of facial expression often with staring eyes and a slightly open mouth.'),('HP:0000300','Oval face','A face with a rounded and slightly elongated outline.'),('HP:0000301','Abnormality of facial musculature','An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).'),('HP:0000303','Mandibular prognathia','Abnormal prominence of the chin related to increased length of the mandible.'),('HP:0000306','Abnormality of the chin','An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.'),('HP:0000307','Pointed chin','A marked tapering of the lower face to the chin.'),('HP:0000308','Microretrognathia','A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.'),('HP:0000309','Abnormality of the midface','An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.'),('HP:0000311','Round face','The facial appearance is more circular than usual as viewed from the front.'),('HP:0000315','Abnormality of the orbital region',''),('HP:0000316','Hypertelorism','Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).'),('HP:0000317','Facial myokymia','Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0000319','Smooth philtrum','Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.'),('HP:0000320','Bird-like facies',''),('HP:0000321','Square face','Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.'),('HP:0000322','Short philtrum','Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.'),('HP:0000324','Facial asymmetry','An abnormal difference between the left and right sides of the face.'),('HP:0000325','Triangular face','Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.'),('HP:0000326','Abnormality of the maxilla','An abnormality of the Maxilla (upper jaw bone).'),('HP:0000327','Hypoplasia of the maxilla','Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.'),('HP:0000329','Facial hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.'),('HP:0000331','Short chin','Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.'),('HP:0000336','Prominent supraorbital ridges','Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.'),('HP:0000337','Broad forehead','Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.'),('HP:0000338','Hypomimic face','A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.'),('HP:0000339','Pugilistic facies','Coarse facial features reminiscent of those of a boxer.'),('HP:0000340','Sloping forehead','Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.'),('HP:0000341','Narrow forehead','Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).'),('HP:0000343','Long philtrum','Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.'),('HP:0000346','Whistling appearance','An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.'),('HP:0000347','Micrognathia','Developmental hypoplasia of the mandible.'),('HP:0000348','High forehead','An abnormally increased height of the forehead.'),('HP:0000349','Widow`s peak','Frontal hairline with bilateral arcs to a low point in the midline of the forehead.'),('HP:0000350','Small forehead','The presence of a forehead that is abnormally small.'),('HP:0000356','Abnormality of the outer ear','An abnormality of the external ear.'),('HP:0000357','Abnormal location of ears','Abnormal location of the ear.'),('HP:0000358','Posteriorly rotated ears','A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).'),('HP:0000359','Abnormality of the inner ear','An abnormality of the inner ear.'),('HP:0000360','Tinnitus','Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.'),('HP:0000361','obsolete Pulsatile tinnitus (tympanic paraganglioma)',''),('HP:0000362','Otosclerosis','In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.'),('HP:0000363','Abnormality of earlobe','An abnormality of the lobule of pinna.'),('HP:0000364','Hearing abnormality','An abnormality of the sensory perception of sound.'),('HP:0000365','Hearing impairment','A decreased magnitude of the sensory perception of sound.'),('HP:0000366','Abnormality of the nose','An abnormality of the nose.'),('HP:0000368','Low-set, posteriorly rotated ears','Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).'),('HP:0000369','Low-set ears','Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.'),('HP:0000370','Abnormality of the middle ear','An abnormality of the middle ear.'),('HP:0000371','Acute otitis media','Acute otitis media is a short and generally painful infection of the middle ear.'),('HP:0000372','Abnormality of the auditory canal','An abnormality of the External acoustic tube (also known as the auditory canal).'),('HP:0000375','Abnormal cochlea morphology','An abnormality of the cochlea.'),('HP:0000376','Incomplete partition of the cochlea type II','IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.'),('HP:0000377','Abnormality of the pinna','An abnormality of the pinna, which is also referred to as the auricle or external ear.'),('HP:0000378','Cupped ear','Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).'),('HP:0000381','Stapes ankylosis','Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).'),('HP:0000383','Abnormality of periauricular region',''),('HP:0000384','Preauricular skin tag','A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).'),('HP:0000385','Small earlobe','Reduced volume of the earlobe.'),('HP:0000387','Absent earlobe','Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.'),('HP:0000388','Otitis media','Inflammation or infection of the middle ear.'),('HP:0000389','Chronic otitis media','Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.'),('HP:0000391','Thickened helices','Increased thickness of the helix of the ear.'),('HP:0000394','Lop ear','Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.'),('HP:0000395','Prominent antihelix','The presence of an abnormally prominent antihelix.'),('HP:0000396','Overfolded helix','A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.'),('HP:0000399','Prelingual sensorineural hearing impairment','A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.'),('HP:0000400','Macrotia','Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).'),('HP:0000402','Stenosis of the external auditory canal','An abnormal narrowing of the external auditory canal.'),('HP:0000403','Recurrent otitis media','Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.'),('HP:0000405','Conductive hearing impairment','An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.'),('HP:0000407','Sensorineural hearing impairment','A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.'),('HP:0000408','Progressive sensorineural hearing impairment','A progressive form of sensorineural hearing impairment.'),('HP:0000410','Mixed hearing impairment','A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.'),('HP:0000411','Protruding ear','Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).'),('HP:0000413','Atresia of the external auditory canal','Absence or failure to form of the external auditory canal.'),('HP:0000414','Bulbous nose','Increased volume and globular shape of the anteroinferior aspect of the nose.'),('HP:0000415','Abnormality of the choanae','Abnormality of the choanae (the posterior nasal apertures).'),('HP:0000417','Slender nose',''),('HP:0000418','Narrow nasal ridge','Decreased width of the nasal ridge.'),('HP:0000419','Abnormality of the nasal septum','An abnormality of the nasal septum.'),('HP:0000420','Short nasal septum','Reduced superior to inferior length of the nasal septum.'),('HP:0000421','Epistaxis','Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.'),('HP:0000422','Abnormality of the nasal bridge','Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.'),('HP:0000426','Prominent nasal bridge','Anterior positioning of the nasal root in comparison to the usual positioning for age.'),('HP:0000429','Abnormality of the nasal alae','An abnormality of the Ala of nose.'),('HP:0000430','Underdeveloped nasal alae','Thinned, deficient, or excessively arched ala nasi.'),('HP:0000431','Wide nasal bridge','Increased breadth of the nasal bridge (and with it, the nasal root).'),('HP:0000433','Abnormality of the nasal mucosa',''),('HP:0000434','Nasal mucosa telangiectasia','Telangiectasia of the nasal mucosa.'),('HP:0000436','Abnormality of the nasal tip','An abnormality of the nasal tip.'),('HP:0000437','Depressed nasal tip','Decreased distance from the nasal tip to the nasal base.'),('HP:0000444','Convex nasal ridge','Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.'),('HP:0000445','Wide nose','Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.'),('HP:0000446','Narrow nasal bridge','Decreased width of the bony bridge of the nose.'),('HP:0000447','Pear-shaped nose',''),('HP:0000448','Prominent nose','Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.'),('HP:0000451','Triangular nasal tip',''),('HP:0000452','Choanal stenosis','Abnormal narrowing of the choana (the posterior nasal aperture).'),('HP:0000453','Choanal atresia','Absence or abnormal closure of the choana (the posterior nasal aperture).'),('HP:0000454','Flared nostrils',''),('HP:0000455','Broad nasal tip','Increase in width of the nasal tip.'),('HP:0000456','Bifid nasal tip','A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.'),('HP:0000457','Depressed nasal ridge','Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.'),('HP:0000458','Anosmia','An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.'),('HP:0000460','Narrow nose','Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.'),('HP:0000463','Anteverted nares','Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).'),('HP:0000464','Abnormality of the neck','An abnormality of the neck.'),('HP:0000465','Webbed neck','Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.'),('HP:0000466','Limited neck range of motion',''),('HP:0000467','Neck muscle weakness','Decreased strength of the neck musculature.'),('HP:0000468','Increased adipose tissue around the neck','An increased amount of subcutaneous fat tissue around the neck.'),('HP:0000470','Short neck','Diminished length of the neck.'),('HP:0000471','Gastrointestinal angiodysplasia','Dysplasia affecting the vasculature of the gastrointestinal tract.'),('HP:0000472','Long neck','Increased inferior-superior length of the neck.'),('HP:0000473','Torticollis','Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.'),('HP:0000474','Thickened nuchal skin fold','A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637).'),('HP:0000475','Broad neck','Increased side-to-side width of the neck.'),('HP:0000476','Cystic hygroma','A cystic lymphatic lesion of the neck.'),('HP:0000478','Abnormality of the eye','Any abnormality of the eye, including location, spacing, and intraocular abnormalities.'),('HP:0000479','Abnormal retinal morphology','A structural abnormality of the retina.'),('HP:0000480','Retinal coloboma','A notch or cleft of the retina.'),('HP:0000481','Abnormal cornea morphology','Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.'),('HP:0000482','Microcornea','A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.'),('HP:0000483','Astigmatism','A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.'),('HP:0000484','Hyperopic astigmatism','A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.'),('HP:0000485','Megalocornea','An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.'),('HP:0000486','Strabismus','A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.'),('HP:0000487','obsolete Congenital strabismus',''),('HP:0000488','Retinopathy','Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.'),('HP:0000489','obsolete Abnormality of globe location or size',''),('HP:0000490','Deeply set eye','An eye that is more deeply recessed into the plane of the face than is typical.'),('HP:0000491','Keratitis','Inflammation of the cornea.'),('HP:0000492','Abnormal eyelid morphology','An abnormality of the eyelids.'),('HP:0000493','Abnormal foveal morphology','An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.'),('HP:0000494','Downslanted palpebral fissures','The palpebral fissure inclination is more than two standard deviations below the mean.'),('HP:0000495','Recurrent corneal erosions','The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.'),('HP:0000496','Abnormality of eye movement','An abnormality in voluntary or involuntary eye movements or their control.'),('HP:0000497','Globe retraction and deviation on abduction',''),('HP:0000498','Blepharitis','Inflammation of the eyelids.'),('HP:0000499','Abnormal eyelash morphology','An abnormality of the eyelashes.'),('HP:0000501','Glaucoma','Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.'),('HP:0000502','Abnormal conjunctiva morphology','An abnormality of the conjunctiva.'),('HP:0000503','Tortuosity of conjunctival vessels','The presence of an increased number of twists and turns of the conjunctival blood vessels.'),('HP:0000504','Abnormality of vision','Abnormality of eyesight (visual perception).'),('HP:0000505','Visual impairment','Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.'),('HP:0000506','Telecanthus','Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.'),('HP:0000508','Ptosis','The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).'),('HP:0000509','Conjunctivitis','Inflammation of the conjunctiva.'),('HP:0000510','Rod-cone dystrophy','An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.'),('HP:0000511','Vertical supranuclear gaze palsy','A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.'),('HP:0000512','Abnormal electroretinogram','Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.'),('HP:0000514','Slow saccadic eye movements','An abnormally slow velocity of the saccadic eye movements.'),('HP:0000517','Abnormality of the lens','An abnormality of the lens.'),('HP:0000518','Cataract','A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.'),('HP:0000519','Developmental cataract','A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.'),('HP:0000520','Proptosis','An eye that is protruding anterior to the plane of the face to a greater extent than is typical.'),('HP:0000522','Alacrima','Absence of tear secretion.'),('HP:0000523','Subcapsular cataract','A cataract that affects the region of the lens directly beneath the capsule of the lens.'),('HP:0000524','Conjunctival telangiectasia','The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.'),('HP:0000525','Abnormality iris morphology','An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.'),('HP:0000526','Aniridia','Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.'),('HP:0000527','Long eyelashes','Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).'),('HP:0000528','Anophthalmia','Absence of the globe or eyeball.'),('HP:0000529','Progressive visual loss','A reduction of previously attained ability to see.'),('HP:0000531','Corneal crystals',''),('HP:0000532','Abnormal chorioretinal morphology','An abnormality of the choroid and retina.'),('HP:0000533','Chorioretinal atrophy','Atrophy of the choroid and retinal layers of the fundus.'),('HP:0000534','Abnormal eyebrow morphology','An abnormality of the eyebrow.'),('HP:0000535','Sparse and thin eyebrow','Decreased density/number and/or decreased diameter of eyebrow hairs.'),('HP:0000537','Epicanthus inversus','A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.'),('HP:0000538','Pseudopapilledema','Apparent optic disc swelling in the absence of increased intracranial pressure.'),('HP:0000539','Abnormality of refraction','An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.'),('HP:0000540','Hypermetropia','An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.'),('HP:0000541','Retinal detachment','Separation of the inner layers of the retina (neural retina) from the pigment epithelium.'),('HP:0000542','Impaired ocular adduction','Reduced ability to move the eye in the direction of the nose.'),('HP:0000543','Optic disc pallor','A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.'),('HP:0000544','External ophthalmoplegia','Paralysis of the external ocular muscles.'),('HP:0000545','Myopia','An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.'),('HP:0000546','Retinal degeneration','A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.'),('HP:0000547','obsolete Tapetoretinal degeneration',''),('HP:0000548','Cone/cone-rod dystrophy',''),('HP:0000549','Abnormal conjugate eye movement','Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.'),('HP:0000550','Undetectable electroretinogram','Lack of any response to stimulation upon electroretinography.'),('HP:0000551','Color vision defect','An anomaly in the ability to discriminate between or recognize colors.'),('HP:0000552','Tritanomaly','Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.'),('HP:0000553','Abnormal uvea morphology','An abnormality of the uvea, the vascular layer of the eyeball.'),('HP:0000554','Uveitis','Inflammation of one or all portions of the uveal tract.'),('HP:0000555','Leukocoria','An abnormal white reflection from the pupil rather than the usual black reflection.'),('HP:0000556','Retinal dystrophy','Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.'),('HP:0000557','Buphthalmos','Diffusely large eye (with megalocornea) associated with glaucoma.'),('HP:0000558','Rieger anomaly','A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.'),('HP:0000559','Corneal scarring',''),('HP:0000561','Absent eyelashes','Lack of eyelashes.'),('HP:0000563','Keratoconus','A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.'),('HP:0000564','Lacrimal duct atresia','A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.'),('HP:0000565','Esotropia','A form of strabismus with one or both eyes turned inward (`crossed`) to a relatively severe degree, usually defined as 10 diopters or more.'),('HP:0000567','Chorioretinal coloboma','Absence of a region of the retina, retinal pigment epithelium, and choroid.'),('HP:0000568','Microphthalmia','A developmental anomaly characterized by abnormal smallness of one or both eyes.'),('HP:0000570','Abnormal saccadic eye movements','An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.'),('HP:0000571','Hypometric saccades','Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.'),('HP:0000572','Visual loss','Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).'),('HP:0000573','Retinal hemorrhage','Hemorrhage occurring within the retina.'),('HP:0000574','Thick eyebrow','Increased density/number and/or increased diameter of eyebrow hairs.'),('HP:0000575','Scotoma','A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.'),('HP:0000576','Centrocecal scotoma','A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.'),('HP:0000577','Exotropia','A form of strabismus with one or both eyes deviated outward.'),('HP:0000579','Nasolacrimal duct obstruction','Blockage of the lacrimal duct.'),('HP:0000580','Pigmentary retinopathy','An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.'),('HP:0000581','Blepharophimosis','A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.'),('HP:0000582','Upslanted palpebral fissure','The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.'),('HP:0000584','Punctate corneal epithelial erosions',''),('HP:0000585','Band keratopathy','An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.'),('HP:0000586','Shallow orbits','Reduced depth of the orbits associated with prominent-appearing ocular globes.'),('HP:0000587','Abnormality of the optic nerve','Abnormality of the optic nerve.'),('HP:0000588','Optic nerve coloboma','A cleft of the optic nerve that extends inferiorly.'),('HP:0000589','Coloboma','A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.'),('HP:0000590','Progressive external ophthalmoplegia','Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.'),('HP:0000591','Abnormal sclera morphology','An abnormality of the sclera.'),('HP:0000592','Blue sclerae','An abnormal bluish coloration of the sclera.'),('HP:0000593','Abnormal anterior chamber morphology','Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.'),('HP:0000594','Shallow anterior chamber','Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.'),('HP:0000597','Ophthalmoparesis','Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.'),('HP:0000598','Abnormality of the ear','An abnormality of the ear.'),('HP:0000599','Abnormality of the frontal hairline','An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.'),('HP:0000600','Abnormality of the pharynx','An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.'),('HP:0000601','Hypotelorism','Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).'),('HP:0000602','Ophthalmoplegia','Paralysis of one or more extraocular muscles that are responsible for eye movements.'),('HP:0000603','Central scotoma','An area of depressed vision located at the point of fixation and that interferes with central vision.'),('HP:0000605','Supranuclear gaze palsy','A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.'),('HP:0000606','Abnormality of the periorbital region','An abnormality of the region situated around the orbit of the eye.'),('HP:0000607','Periorbital wrinkles',''),('HP:0000608','Macular degeneration','A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.'),('HP:0000609','Optic nerve hypoplasia','Underdevelopment of the optic nerve.'),('HP:0000610','Abnormal choroid morphology','Any structural abnormality of the choroid.'),('HP:0000611','obsolete Choroid coloboma',''),('HP:0000612','Iris coloboma','A coloboma of the iris.'),('HP:0000613','Photophobia','Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.'),('HP:0000614','Abnormal nasolacrimal system morphology','An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.'),('HP:0000615','Abnormal pupil morphology','An abnormality of the pupil.'),('HP:0000616','Miosis','Abnormal (non-physiological) constriction of the pupil.'),('HP:0000617','Abnormality of ocular smooth pursuit','An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.'),('HP:0000618','Blindness','Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.'),('HP:0000619','Impaired convergence','Reduced ability to turn the eyes inward in order to focus on a nearby object.'),('HP:0000620','Dacryocystitis','Inflammation of the nasolacrimal sac.'),('HP:0000621','Entropion','An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.'),('HP:0000622','Blurred vision','Lack of sharpness of vision resulting in the inability to see fine detail.'),('HP:0000623','Supranuclear ophthalmoplegia','A vertical gaze palsy with inability to direct the gaze of the eyes downwards.'),('HP:0000625','Eyelid coloboma','A short discontinuity of the margin of the lower or upper eyelid.'),('HP:0000627','Posterior embryotoxon','A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.'),('HP:0000629','Periorbital fullness','Increase in periorbital soft tissue.'),('HP:0000630','Abnormal retinal artery morphology',''),('HP:0000631','Retinal arterial tortuosity','The presence of an increased number of twists and turns of the retinal artery.'),('HP:0000632','Lacrimation abnormality','Abnormality of tear production.'),('HP:0000633','Decreased lacrimation','Abnormally decreased lacrimation, that is, reduced ability to produce tears.'),('HP:0000634','Impaired ocular abduction','An impaired ability of the eye to move in the outward direction (towards the side of the head).'),('HP:0000635','Blue irides','A markedly blue coloration of the iris.'),('HP:0000636','Upper eyelid coloboma','A short discontinuity of the margin of the upper eyelid.'),('HP:0000637','Long palpebral fissure','Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.'),('HP:0000639','Nystagmus','Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.'),('HP:0000640','Gaze-evoked nystagmus','Nystagmus made apparent by looking to the right or to the left.'),('HP:0000641','Dysmetric saccades','The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.'),('HP:0000642','Red-green dyschromatopsia','Difficulty with discriminating red and green hues.'),('HP:0000643','Blepharospasm','A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.'),('HP:0000646','Amblyopia','Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.'),('HP:0000647','Sclerocornea','A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.'),('HP:0000648','Optic atrophy','Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.'),('HP:0000649','Abnormality of visual evoked potentials','An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.'),('HP:0000650','Abnormal amplitude of pattern reversal visual evoked potentials',''),('HP:0000651','Diplopia','Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.'),('HP:0000652','Lower eyelid coloboma','A short discontinuity of the margin of the lower eyelid.'),('HP:0000653','Sparse eyelashes','Decreased density/number of eyelashes.'),('HP:0000654','Decreased light- and dark-adapted electroretinogram amplitude','Descreased amplitude of eletrical response upon electroretinography.'),('HP:0000655','obsolete Vitreoretinal degeneration',''),('HP:0000656','Ectropion','An outward turning (eversion) or rotation of the eyelid margin.'),('HP:0000657','Oculomotor apraxia','Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.'),('HP:0000658','Eyelid apraxia',''),('HP:0000659','Peters anomaly','A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.'),('HP:0000660','Lipemia retinalis','A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.'),('HP:0000661','Palpebral fissure narrowing on adduction',''),('HP:0000662','Nyctalopia','Inability to see well at night or in poor light.'),('HP:0000664','Synophrys','Meeting of the medial eyebrows in the midline.'),('HP:0000666','Horizontal nystagmus','Nystagmus consisting of horizontal to-and-fro eye movements.'),('HP:0000667','Phthisis bulbi','Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.'),('HP:0000668','Hypodontia','A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.'),('HP:0000670','Carious teeth','Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.'),('HP:0000674','Anodontia','The congenital absence of all teeth.'),('HP:0000675','Macrodontia of permanent maxillary central incisor','Increased size of the maxillary central secondary incisor tooth.'),('HP:0000676','Abnormality of the incisor','An abnormality of the Incisor tooth.'),('HP:0000677','Oligodontia','A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.'),('HP:0000678','Dental crowding','Overlapping teeth within an alveolar ridge.'),('HP:0000679','Taurodontia','Increased volume of dental pulp of permanent molar.'),('HP:0000680','Delayed eruption of primary teeth','Delayed tooth eruption affecting the primary dentition.'),('HP:0000682','Abnormality of dental enamel','An abnormality of the dental enamel.'),('HP:0000683','Grayish enamel','A grey discoloration of the dental enamel.'),('HP:0000684','Delayed eruption of teeth','Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.'),('HP:0000685','Hypoplasia of teeth','Developmental hypoplasia of teeth.'),('HP:0000687','Widely spaced teeth','Increased spaces (diastemata) between most of the teeth in the same dental arch.'),('HP:0000689','Dental malocclusion','Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.'),('HP:0000690','Agenesis of maxillary lateral incisor','Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.'),('HP:0000691','Microdontia','Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.'),('HP:0000692','Misalignment of teeth','Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.'),('HP:0000694','Shell teeth','A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.'),('HP:0000695','Natal tooth','Erupted tooth or teeth at birth.'),('HP:0000696','Delayed eruption of permanent teeth','Delayed tooth eruption affecting the secondary dentition.'),('HP:0000698','Conical tooth','An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.'),('HP:0000699','Diastema','Increased space between two adjacent teeth in the same dental arch.'),('HP:0000700','Periapical bone loss','Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).'),('HP:0000703','Dentinogenesis imperfecta','Developmental dysplasia of dentin.'),('HP:0000704','Periodontitis','Inflammation of the periodontium.'),('HP:0000705','Amelogenesis imperfecta','A developmental dysplasia of the dental enamel.'),('HP:0000706','Unerupted tooth','The presence of one or more embedded tooth germs which have failed to erupt.'),('HP:0000707','Abnormality of the nervous system','An abnormality of the nervous system.'),('HP:0000708','Behavioral abnormality','An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.'),('HP:0000709','Psychosis','A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.'),('HP:0000710','Hyperorality','A tendency or compulsion to examine objects by mouth.'),('HP:0000711','Restlessness','A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.'),('HP:0000712','Emotional lability','Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.'),('HP:0000713','Agitation','A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.'),('HP:0000716','Depressivity','Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.'),('HP:0000717','Autism','Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).'),('HP:0000718','Aggressive behavior','Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.'),('HP:0000719','Inappropriate behavior',''),('HP:0000720','Mood swings','An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.'),('HP:0000721','Lack of spontaneous play',''),('HP:0000722','Obsessive-compulsive behavior','Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).'),('HP:0000723','Restrictive behavior','Behavior characterized by an abnormal limitation to few interests and activities.'),('HP:0000725','Psychotic episodes',''),('HP:0000726','Dementia','A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.'),('HP:0000727','Frontal lobe dementia',''),('HP:0000728','Impaired ability to form peer relationships',''),('HP:0000729','Autistic behavior','Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.'),('HP:0000732','Inflexible adherence to routines or rituals',''),('HP:0000733','Stereotypy','A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.'),('HP:0000734','Disinhibition','A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.'),('HP:0000735','Impaired social interactions','Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.'),('HP:0000736','Short attention span','Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.'),('HP:0000737','Irritability',''),('HP:0000738','Hallucinations','Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.'),('HP:0000739','Anxiety','Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.'),('HP:0000740','Episodic paroxysmal anxiety','Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.'),('HP:0000741','Apathy',''),('HP:0000742','Self-mutilation',''),('HP:0000743','Frontal release signs','Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.'),('HP:0000744','Low frustration tolerance','The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.'),('HP:0000745','Diminished motivation','A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.'),('HP:0000746','Delusions','A belief that is pathological and is held despite evidence to the contrary.'),('HP:0000748','Inappropriate laughter',''),('HP:0000749','Paroxysmal bursts of laughter',''),('HP:0000750','Delayed speech and language development','A degree of language development that is significantly below the norm for a child of a specified age.'),('HP:0000751','Personality changes','An abnormal shift in patterns of thinking, acting, or feeling.'),('HP:0000752','Hyperactivity','Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.'),('HP:0000753','Autism with high cognitive abilities',''),('HP:0000756','Agoraphobia','A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.'),('HP:0000757','Lack of insight',''),('HP:0000758','Impaired use of nonverbal behaviors','Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.'),('HP:0000759','Abnormal peripheral nervous system morphology','A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).'),('HP:0000762','Decreased nerve conduction velocity','A reduction in the speed at which electrical signals propagate along the axon of a neuron.'),('HP:0000763','Sensory neuropathy','Peripheral neuropathy affecting the sensory nerves.'),('HP:0000764','Peripheral axonal degeneration','Progressive deterioration of peripheral axons.'),('HP:0000765','Abnormality of the thorax','Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).'),('HP:0000766','Abnormality of the sternum','An anomaly of the sternum, also known as the breastbone.'),('HP:0000767','Pectus excavatum','A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance.'),('HP:0000768','Pectus carinatum','A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.'),('HP:0000769','Abnormality of the breast','An abnormality of the breast.'),('HP:0000771','Gynecomastia','Abnormal development of large mammary glands in males resulting in breast enlargement.'),('HP:0000772','Abnormality of the ribs','An anomaly of the rib.'),('HP:0000773','Short ribs','Reduced rib length.'),('HP:0000774','Narrow chest','Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.'),('HP:0000775','Abnormality of the diaphragm','Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.'),('HP:0000776','Congenital diaphragmatic hernia','The presence of a hernia of the diaphragm present at birth.'),('HP:0000777','Abnormality of the thymus','Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.'),('HP:0000778','Hypoplasia of the thymus','Underdevelopment of the thymus.'),('HP:0000782','Abnormality of the scapula','Any abnormality of the scapula, also known as the shoulder blade.'),('HP:0000786','Primary amenorrhea',''),('HP:0000787','Nephrolithiasis','The presence of calculi (stones) in the kidneys.'),('HP:0000789','Infertility',''),('HP:0000790','Hematuria','The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).'),('HP:0000791','Uric acid nephrolithiasis','The presence of uric acid-containing calculi (stones) in the kidneys.'),('HP:0000793','Membranoproliferative glomerulonephritis','A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity'),('HP:0000794','IgA deposition in the glomerulus','The presence of immunoglobulin A deposits in the glomerulus.'),('HP:0000795','Abnormality of the urethra','An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.'),('HP:0000796','Urethral obstruction','Obstruction of the flow of urine through the urethra.'),('HP:0000798','Oligospermia','Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.'),('HP:0000799','Renal steatosis','Abnormal fat accumulation in the kidneys.'),('HP:0000800','Cystic renal dysplasia',''),('HP:0000802','Impotence','Inability to develop or maintain an erection of the penis.'),('HP:0000803','Renal cortical cysts','Cysts of the cortex of the kidney.'),('HP:0000804','Xanthine nephrolithiasis','The presence of xanthine-containing calculi (stones) in the kidneys.'),('HP:0000805','Enuresis','Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.'),('HP:0000807','Glandular hypospadias',''),('HP:0000808','Penoscrotal hypospadias','A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.'),('HP:0000809','Urinary tract atresia','Congenital absence of the normal opening of a structure of the urinary tract.'),('HP:0000811','Abnormal external genitalia',''),('HP:0000812','Abnormal internal genitalia','An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).'),('HP:0000813','Bicornuate uterus','The presence of a bicornuate uterus.'),('HP:0000815','Hypergonadotropic hypogonadism','Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.'),('HP:0000816','Abnormality of Krebs cycle metabolism','An abnormality of the tricarboxylic acid cycle.'),('HP:0000817','Poor eye contact','Difficulty in looking at another person in the eye.'),('HP:0000818','Abnormality of the endocrine system','An abnormality of the endocrine system.'),('HP:0000819','Diabetes mellitus','A group of abnormalities characterized by hyperglycemia and glucose intolerance.'),('HP:0000820','Abnormality of the thyroid gland','An abnormality of the thyroid gland.'),('HP:0000821','Hypothyroidism','Deficiency of thyroid hormone.'),('HP:0000822','Hypertension','The presence of chronic increased pressure in the systemic arterial system.'),('HP:0000823','Delayed puberty','Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.'),('HP:0000824','Growth hormone deficiency','Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.'),('HP:0000825','Hyperinsulinemic hypoglycemia','An increased concentration of insulin combined with a decreased concentration of glucose in the blood.'),('HP:0000826','Precocious puberty','The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.'),('HP:0000828','Abnormality of the parathyroid gland','An abnormality of the parathyroid gland.'),('HP:0000829','Hypoparathyroidism','A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.'),('HP:0000830','Anterior hypopituitarism','A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.'),('HP:0000831','Insulin-resistant diabetes mellitus','A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.'),('HP:0000832','Primary hypothyroidism','A type of hypothyroidism that results from a defect in the thyroid gland.'),('HP:0000833','obsolete Glucose intolerance',''),('HP:0000834','Abnormality of the adrenal glands','Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.'),('HP:0000835','Adrenal hypoplasia','Developmental hypoplasia of the adrenal glands.'),('HP:0000836','Hyperthyroidism','An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3`,5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).'),('HP:0000837','Increased circulating gonadotropin level','Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.'),('HP:0000839','Pituitary dwarfism','A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.'),('HP:0000840','Adrenogenital syndrome','Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.'),('HP:0000841','Hyperactive renin-angiotensin system','An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.'),('HP:0000842','Hyperinsulinemia','An increased concentration of insulin in the blood.'),('HP:0000843','Hyperparathyroidism','Excessive production of parathyroid hormone (PTH) by the parathyroid glands.'),('HP:0000845','Growth hormone excess','Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.'),('HP:0000846','Adrenal insufficiency','Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.'),('HP:0000847','Abnormality of renin-angiotensin system','An abnormality of the renin-angiotensin system.'),('HP:0000848','Increased circulating renin level','An increased level of renin in the blood.'),('HP:0000849','Adrenocortical abnormality',''),('HP:0000851','Congenital hypothyroidism','A type of hypothyroidism with congenital onset.'),('HP:0000852','Pseudohypoparathyroidism','A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.'),('HP:0000853','Goiter','An enlargement of the thyroid gland.'),('HP:0000854','Thyroid adenoma','The presence of a adenoma of the thyroid gland.'),('HP:0000855','Insulin resistance','Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.'),('HP:0000857','Neonatal insulin-dependent diabetes mellitus',''),('HP:0000858','Irregular menstruation','Abnormally high variation in the amount of time between periods.'),('HP:0000859','Hyperaldosteronism','Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.'),('HP:0000860','Parathyroid hypoplasia','Developmental hypoplasia of the parathyroid gland.'),('HP:0000863','Central diabetes insipidus','A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.'),('HP:0000864','Abnormality of the hypothalamus-pituitary axis','Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.'),('HP:0000866','Euthyroid multinodular goiter',''),('HP:0000867','Secondary hyperparathyroidism','Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.'),('HP:0000868','Decreased fertility in females',''),('HP:0000869','Secondary amenorrhea',''),('HP:0000870','Increased circulating prolactin concentration','The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.'),('HP:0000871','Panhypopituitarism','A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).'),('HP:0000872','Hashimoto thyroiditis','A chronic, autoimmune type of thyroiditis associated with hypothyroidism.'),('HP:0000873','Diabetes insipidus','A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).'),('HP:0000875','Episodic hypertension',''),('HP:0000876','Oligomenorrhea','Infrequent menses (less than 6 per year or more than 35 days between cycles).'),('HP:0000877','Insulin-resistant diabetes mellitus at puberty',''),('HP:0000878','11 pairs of ribs','Presence of only 11 pairs of ribs.'),('HP:0000879','Short sternum','Decreased inferosuperior length of the sternum.'),('HP:0000882','Hypoplastic scapulae','Underdeveloped scapula.'),('HP:0000883','Thin ribs','Ribs with a reduced diameter.'),('HP:0000884','Prominent sternum',''),('HP:0000885','Broad ribs','Increased width of ribs'),('HP:0000886','Deformed rib cage','Malformation of the rib cage.'),('HP:0000887','Cupped ribs','Wide, concave rib end.'),('HP:0000888','Horizontal ribs','A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.'),('HP:0000889','Abnormality of the clavicle','Any abnormality of the clavicles (collar bones).'),('HP:0000890','Long clavicles','Increased length of the clavicles.'),('HP:0000891','Cervical ribs',''),('HP:0000892','Bifid ribs','A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.'),('HP:0000893','Bulging of the costochondral junction','Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.'),('HP:0000894','Short clavicles','Reduced length of the clavicles.'),('HP:0000895','Lateral clavicle hook','An excessive upward convexity of the lateral clavicle.'),('HP:0000896','Rib exostoses','Multiple circumscribed bony excrescences located in the ribs.'),('HP:0000897','Rachitic rosary','A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.'),('HP:0000900','Thickened ribs','Increased thickness (diameter) of ribs.'),('HP:0000902','Rib fusion','Complete or partial merging of adjacent ribs.'),('HP:0000904','Flaring of rib cage','The presence of wide, concave anterior rib ends.'),('HP:0000905','Progressive clavicular acroosteolysis','Progressive bone resorption in the distal part of the clavicle.'),('HP:0000907','Anterior rib cupping','Wide, concave anterior rib end.'),('HP:0000910','Wide-cupped costochondral junctions',''),('HP:0000911','Flat glenoid fossa','Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.'),('HP:0000912','Sprengel anomaly','A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).'),('HP:0000913','Posterior rib fusion','Complete or partial merging of the posterior part of adjacent ribs.'),('HP:0000914','Shield chest','A broad chest.'),('HP:0000915','Pectus excavatum of inferior sternum','Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.'),('HP:0000916','Broad clavicles','Increased width (cross-sectional diameter) of the clavicles.'),('HP:0000917','Superior pectus carinatum','Pectus carinatum affecting primarily the superior part of the sternum.'),('HP:0000918','Scapular exostoses','The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.'),('HP:0000919','Abnormality of the costochondral junction','Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.'),('HP:0000920','Enlargement of the costochondral junction','Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.'),('HP:0000921','Missing ribs','A developmental anomaly with absence of one or more ribs.'),('HP:0000922','Posterior rib cupping','Wide, concave posterior rib end.'),('HP:0000923','Beaded ribs','The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.'),('HP:0000924','Abnormality of the skeletal system','An abnormality of the skeletal system.'),('HP:0000925','Abnormality of the vertebral column','Any abnormality of the vertebral column.'),('HP:0000926','Platyspondyly','A flattened vertebral body shape with reduced distance between the vertebral endplates.'),('HP:0000927','Abnormality of skeletal maturation','The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.'),('HP:0000929','Abnormal skull morphology','An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.'),('HP:0000930','Elevated imprint of the transverse sinuses',''),('HP:0000931','Thinning and bulging of the posterior fossa bones',''),('HP:0000932','Abnormality of the posterior cranial fossa','An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.'),('HP:0000933','Posterior fossa cyst at the fourth ventricle',''),('HP:0000934','Chondrocalcinosis','Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .'),('HP:0000935','Thickened cortex of long bones','Abnormal thickening of the cortex of long bones.'),('HP:0000938','Osteopenia','Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.'),('HP:0000939','Osteoporosis','Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).'),('HP:0000940','Abnormal diaphysis morphology','An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.'),('HP:0000941','Short diaphyses',''),('HP:0000943','Dysostosis multiplex',''),('HP:0000944','Abnormality of the metaphysis','An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.'),('HP:0000946','Hypoplastic ilia','Underdevelopment of the ilium.'),('HP:0000947','Dumbbell-shaped long bone','An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.'),('HP:0000951','Abnormality of the skin','An abnormality of the skin.'),('HP:0000952','Jaundice','Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.'),('HP:0000953','Hyperpigmentation of the skin','A darkening of the skin related to an increase in melanin production and deposition.'),('HP:0000954','Single transverse palmar crease','The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.'),('HP:0000956','Acanthosis nigricans','A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.'),('HP:0000957','Cafe-au-lait spot','Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.'),('HP:0000958','Dry skin','Skin characterized by the lack of natural or normal moisture.'),('HP:0000960','Sacral dimple','A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.'),('HP:0000961','Cyanosis','Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.'),('HP:0000962','Hyperkeratosis','Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.'),('HP:0000963','Thin skin','Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.'),('HP:0000964','Eczema','Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.'),('HP:0000965','Cutis marmorata','A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.'),('HP:0000966','Hypohidrosis','Abnormally diminished capacity to sweat.'),('HP:0000967','Petechiae','Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.'),('HP:0000968','Ectodermal dysplasia','Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.'),('HP:0000969','Edema','An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.'),('HP:0000970','Anhidrosis','Inability to sweat.'),('HP:0000971','Abnormal sweat gland morphology','Any structural abnormality of the sweat gland.'),('HP:0000972','Palmoplantar hyperkeratosis','Hyperkeratosis affecting the palm of the hand and the sole of the foot.'),('HP:0000973','Cutis laxa','Wrinkled, redundant, inelastic and sagging skin.'),('HP:0000974','Hyperextensible skin','A condition in which the skin can be stretched beyond normal, and then returns to its initial position.'),('HP:0000975','Hyperhidrosis','Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.'),('HP:0000976','Eczematoid dermatitis',''),('HP:0000977','Soft skin','Subjective impression of increased softness upon palpitation of the skin.'),('HP:0000978','Bruising susceptibility','An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.'),('HP:0000979','Purpura','Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.'),('HP:0000980','Pallor','Abnormally pale skin.'),('HP:0000982','Palmoplantar keratoderma','Abnormal thickening of the skin of the palms of the hands and the soles of the feet.'),('HP:0000987','Atypical scarring of skin','Atypically scarred skin .'),('HP:0000988','Skin rash','A red eruption of the skin.'),('HP:0000989','Pruritus','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.'),('HP:0000991','Xanthomatosis','The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.'),('HP:0000992','Cutaneous photosensitivity','An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.'),('HP:0000993','Molluscoid pseudotumors','Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.'),('HP:0000995','Melanocytic nevus','A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.'),('HP:0000996','Facial capillary hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.'),('HP:0000997','Axillary freckling','The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.'),('HP:0000998','Hypertrichosis','Hypertrichosis is increased hair growth that is abnormal in quantity or location.'),('HP:0000999','Pyoderma','Any manifestation of a skin disease associated with the production of pus.'),('HP:0001000','Abnormality of skin pigmentation','An abnormality of the pigmentation of the skin.'),('HP:0001001','Abnormality of subcutaneous fat tissue',''),('HP:0001002','obsolete Decreased subcutaneous fat',''),('HP:0001003','Multiple lentigines','Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.'),('HP:0001004','Lymphedema','Localized fluid retention and tissue swelling caused by a compromised lymphatic system.'),('HP:0001005','Dermatological manifestations of systemic disorders',''),('HP:0001006','obsolete Hypotrichosis',''),('HP:0001007','Hirsutism','Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).'),('HP:0001008','Accumulation of melanosomes in melanocytes',''),('HP:0001009','Telangiectasia','Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.'),('HP:0001010','Hypopigmentation of the skin','A reduction of skin color related to a decrease in melanin production and deposition.'),('HP:0001011','obsolete Diaphoresis (with pheochromocytoma)',''),('HP:0001012','Multiple lipomas','The presence of multiple lipomas (a type of benign tissue made of fatty tissue).'),('HP:0001013','Eruptive xanthomas','Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.'),('HP:0001014','Angiokeratoma','A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.'),('HP:0001015','Prominent superficial veins','A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.'),('HP:0001017','Anemic pallor','A type of pallor that is secondary to the presence of anemia.'),('HP:0001018','Abnormal palmar dermatoglyphics','An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.'),('HP:0001019','Erythroderma','An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.'),('HP:0001022','Albinism','An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).'),('HP:0001024','Skin dimple over apex of long bone angulation',''),('HP:0001025','Urticaria','Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.'),('HP:0001026','Penetrating foot ulcers',''),('HP:0001027','Soft, doughy skin','A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.'),('HP:0001028','Hemangioma','A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).'),('HP:0001029','Poikiloderma','Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.'),('HP:0001030','Fragile skin','Skin that splits easily with minimal injury.'),('HP:0001031','Subcutaneous lipoma','The presence of subcutaneous lipoma.'),('HP:0001032','Absent distal interphalangeal creases','Absence of the distal interphalangeal flexion creases of the fingers.'),('HP:0001033','Facial flushing after alcohol intake',''),('HP:0001034','Hypermelanotic macule','A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.'),('HP:0001036','Parakeratosis','Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.'),('HP:0001038','Warfarin-induced skin necrosis',''),('HP:0001039','Atheroeruptive xanthoma',''),('HP:0001040','Multiple pterygia',''),('HP:0001041','Facial erythema','Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0001042','High axial triradius',''),('HP:0001043','Prominent scalp veins',''),('HP:0001045','Vitiligo',''),('HP:0001046','Intermittent jaundice','Jaundice that is sometimes present, sometimes not.'),('HP:0001047','Atopic dermatitis','Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.'),('HP:0001048','Cavernous hemangioma','The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.'),('HP:0001049','Absent dorsal skin creases over affected joints',''),('HP:0001050','Plethora',''),('HP:0001051','Seborrheic dermatitis','Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.'),('HP:0001052','Nevus flammeus','A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.'),('HP:0001053','Hypopigmented skin patches',''),('HP:0001054','Numerous nevi',''),('HP:0001055','Erysipelas','Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.'),('HP:0001056','Milia','Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.'),('HP:0001057','Aplasia cutis congenita','A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.'),('HP:0001058','Poor wound healing','A reduced ability to heal cutaneous wounds.'),('HP:0001059','Pterygium','Pterygia are `winglike` triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.'),('HP:0001060','Axillary pterygium','Presence of a cutaneous membrane (flap) in the armpit.'),('HP:0001061','Acne','A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).'),('HP:0001062','Atypical nevus','A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.'),('HP:0001063','Acrocyanosis',''),('HP:0001065','Striae distensae','Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.'),('HP:0001067','Neurofibromas','The presence of multiple cutaneous neurofibromas.'),('HP:0001069','Episodic hyperhidrosis','Intermittent episodes of abnormally increased perspiration.'),('HP:0001070','Mottled pigmentation','Patchy and irregular skin pigmentation.'),('HP:0001071','Angiokeratoma corporis diffusum',''),('HP:0001072','Thickened skin','Laminar thickening of skin.'),('HP:0001073','Cigarette-paper scars','Thin (atrophic) and wide scars.'),('HP:0001074','Atypical nevi in non-sun exposed areas',''),('HP:0001075','Atrophic scars','Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.'),('HP:0001076','Glabellar hemangioma',''),('HP:0001080','Biliary tract abnormality','An abnormality of the biliary tree.'),('HP:0001081','Cholelithiasis','Hard, pebble-like deposits that form within the gallbladder.'),('HP:0001082','Cholecystitis','The presence of inflammatory changes in the gallbladder.'),('HP:0001083','Ectopia lentis','Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.'),('HP:0001084','Corneal arcus','A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.'),('HP:0001085','Papilledema','Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.'),('HP:0001087','Developmental glaucoma','Glaucoma which forms during the early years of a child`s life is called developmental or congenital glaucoma.'),('HP:0001088','Brushfield spots','The presence of whitish spots in a ring-like arrangement at the periphery of the iris.'),('HP:0001089','Iris atrophy','Loss of iris tissue (atrophy)'),('HP:0001090','Abnormally large globe','Diffusely large eye (with megalocornea) without glaucoma.'),('HP:0001092','Absent lacrimal punctum','No identifiable superior and/or inferior lacrimal punctum.'),('HP:0001093','Optic nerve dysplasia','The presence of developmental dysplasia of the optic nerve.'),('HP:0001094','Iridocyclitis','A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.'),('HP:0001095','Hypertensive retinopathy',''),('HP:0001096','Keratoconjunctivitis','Inflammation of the cornea and conjunctiva.'),('HP:0001097','Keratoconjunctivitis sicca','Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.'),('HP:0001098','Abnormal fundus morphology','Any structural abnormality of the fundus of the eye.'),('HP:0001099','Fundus atrophy',''),('HP:0001100','Heterochromia iridis','Heterochromia iridis is a difference in the color of the iris in the two eyes.'),('HP:0001101','Iritis','Inflammation of the iris.'),('HP:0001102','Angioid streaks of the fundus','Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch`s membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.'),('HP:0001103','Abnormal macular morphology','A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.'),('HP:0001104','Macular hypoplasia','Underdevelopment of the macula lutea.'),('HP:0001105','Retinal atrophy','Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.'),('HP:0001106','Periorbital hyperpigmentation','Increased pigmentation of the skin in the region surrounding the orbit of the eye.'),('HP:0001107','Ocular albinism','An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.'),('HP:0001112','Leber optic atrophy','Degeneration of retinal ganglion cells and their axons.'),('HP:0001113','obsolete Early cataracts',''),('HP:0001114','Xanthelasma','The presence of xanthomata in the skin of the eyelid.'),('HP:0001115','Posterior polar cataract','A polar cataract that affects the posterior pole of the lens.'),('HP:0001116','Macular coloboma','A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.'),('HP:0001117','Sudden loss of visual acuity','Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.'),('HP:0001118','Juvenile cataract','A type of cataract that is not apparent at birth but that arises in childhood or adolescence.'),('HP:0001119','Keratoglobus','Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.'),('HP:0001120','Abnormality of corneal size','Any abnormality of the size or morphology of the cornea.'),('HP:0001122','obsolete Aplasia/Hypoplasia of the choroid',''),('HP:0001123','Visual field defect',''),('HP:0001125','Transient unilateral blurring of vision','Transient blurring of vision associated with the aura phase of migraine.'),('HP:0001126','Cryptophthalmos','Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.'),('HP:0001128','Trichiasis','Inversion and rubbing of the eyelashes against the globe of the eye.'),('HP:0001129','Large central visual field defect',''),('HP:0001131','Corneal dystrophy','An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.'),('HP:0001132','Lens subluxation','Partial dislocation of the lens of the eye.'),('HP:0001133','Constriction of peripheral visual field','An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.'),('HP:0001134','Anterior polar cataract','A polar cataract that affects the anterior pole of the lens.'),('HP:0001135','Chorioretinal dystrophy',''),('HP:0001136','Retinal arteriolar tortuosity','The presence of an increased number of twists and turns of the retinal arterioles.'),('HP:0001137','Alternating esotropia','Esotropia in which either eye may be used for fixation.'),('HP:0001138','Optic neuropathy',''),('HP:0001139','Choroideremia',''),('HP:0001140','Limbal dermoid','A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).'),('HP:0001141','Severely reduced visual acuity','Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).'),('HP:0001142','Lenticonus','A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.'),('HP:0001144','Orbital cyst','Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).'),('HP:0001145','obsolete Chorioretinopathy',''),('HP:0001146','obsolete Pigmentary retinal degeneration',''),('HP:0001147','Retinal exudate','Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.'),('HP:0001149','Lattice corneal dystrophy','The presence of fine, branching linear opacities in Bowman`s layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet`s membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.'),('HP:0001150','obsolete Choroidal sclerosis',''),('HP:0001151','Impaired horizontal smooth pursuit','An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.'),('HP:0001152','Saccadic smooth pursuit','An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.'),('HP:0001153','Septate vagina','The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.'),('HP:0001155','Abnormality of the hand','An abnormality affecting one or both hands.'),('HP:0001156','Brachydactyly','Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.'),('HP:0001159','Syndactyly','Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\".'),('HP:0001161','Hand polydactyly','A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.'),('HP:0001162','Postaxial hand polydactyly','Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).'),('HP:0001163','Abnormality of the metacarpal bones','An abnormality of the metacarpal bones.'),('HP:0001166','Arachnodactyly','Abnormally long and slender fingers (\"spider fingers\").'),('HP:0001167','Abnormality of finger','An anomaly of a finger.'),('HP:0001169','Broad palm','For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.'),('HP:0001171','Split hand','A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.'),('HP:0001172','Abnormal thumb morphology','An abnormal structure of the first digit of the hand.'),('HP:0001176','Large hands',''),('HP:0001177','Preaxial hand polydactyly','Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.'),('HP:0001178','Ulnar claw','An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.'),('HP:0001180','Hand oligodactyly','A developmental defect resulting in the presence of fewer than the normal number of fingers.'),('HP:0001181','Adducted thumb','In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.'),('HP:0001182','Tapered finger','The gradual reduction in girth of the finger from proximal to distal.'),('HP:0001187','Hyperextensibility of the finger joints','The ability of the finger joints to move beyond their normal range of motion.'),('HP:0001188','Hand clenching','An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.'),('HP:0001191','Abnormality of the carpal bones','An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).'),('HP:0001193','Ulnar deviation of the hand or of fingers of the hand',''),('HP:0001194','Abnormalities of placenta or umbilical cord','An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).'),('HP:0001195','Single umbilical artery','Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.'),('HP:0001196','Short umbilical cord','Decreased length of the umbilical cord.'),('HP:0001197','Abnormality of prenatal development or birth','An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.'),('HP:0001199','Triphalangeal thumb','A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.'),('HP:0001204','Distal symphalangism of hands','The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.'),('HP:0001211','Abnormal fingertip morphology','An abnormal structure of the tip (end) of a finger.'),('HP:0001212','Prominent fingertip pads','A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.'),('HP:0001215','Camptodactyly of 2nd-5th fingers','The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.'),('HP:0001216','Delayed ossification of carpal bones','Ossification of carpal bones occurs later than age-adjusted norms.'),('HP:0001217','Clubbing','Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.'),('HP:0001218','Autoamputation','Spontaneous detachment (amputation) of an appendage from the body.'),('HP:0001220','Interphalangeal joint contracture of finger','Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.'),('HP:0001222','Spatulate thumbs','Spoon-shaped, broad thumbs.'),('HP:0001223','Pointed proximal second through fifth metacarpals','All of the metacarpal bones of the hand have a pointed proximal appearance.'),('HP:0001225','Wrist swelling',''),('HP:0001226','obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits',''),('HP:0001227','Abnormality of the thenar eminence','An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.'),('HP:0001230','Broad metacarpals','Abnormally broad metacarpal bones.'),('HP:0001231','Abnormal fingernail morphology','An abnormality of the fingernails.'),('HP:0001232','Nail bed telangiectasia','Telangiectases in the area of the nails.'),('HP:0001233','2-3 finger syndactyly','Syndactyly with fusion of fingers two and three.'),('HP:0001234','Hitchhiker thumb','With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.'),('HP:0001238','Slender finger','Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.'),('HP:0001239','Wrist flexion contracture','A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.'),('HP:0001241','Capitate-hamate fusion',''),('HP:0001245','Small thenar eminence','Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.'),('HP:0001248','Short tubular bones of the hand','Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.'),('HP:0001249','Intellectual disability','Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.'),('HP:0001250','Seizure','A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.'),('HP:0001251','Ataxia','Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).'),('HP:0001252','Muscular hypotonia','Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.'),('HP:0001254','Lethargy','A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.'),('HP:0001256','Intellectual disability, mild','Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.'),('HP:0001257','Spasticity','A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.'),('HP:0001258','Spastic paraplegia','Spasticity and weakness of the leg and hip muscles.'),('HP:0001259','Coma','Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.'),('HP:0001260','Dysarthria','Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.'),('HP:0001262','Excessive daytime somnolence','A state of abnormally strong desire for sleep during the daytime.'),('HP:0001263','Global developmental delay','A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.'),('HP:0001264','Spastic diplegia','Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.'),('HP:0001265','Hyporeflexia','Reduction of neurologic reflexes such as the knee-jerk reaction.'),('HP:0001266','Choreoathetosis','Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).'),('HP:0001268','Mental deterioration','Loss of previously present mental abilities, generally in adults.'),('HP:0001269','Hemiparesis','Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.'),('HP:0001270','Motor delay','A type of Developmental delay characterized by a delay in acquiring motor skills.'),('HP:0001271','Polyneuropathy','A generalized disorder of peripheral nerves.'),('HP:0001272','Cerebellar atrophy','Atrophy (wasting) of the cerebellum.'),('HP:0001273','Abnormal corpus callosum morphology','Abnormality of the corpus callosum.'),('HP:0001274','Agenesis of corpus callosum','Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.'),('HP:0001276','Hypertonia','A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.'),('HP:0001278','Orthostatic hypotension','A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.'),('HP:0001279','Syncope','Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.'),('HP:0001281','Tetany','A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.'),('HP:0001283','Bulbar palsy','Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.'),('HP:0001284','Areflexia','Absence of neurologic reflexes such as the knee-jerk reaction.'),('HP:0001285','Spastic tetraparesis','Spastic weakness affecting all four limbs.'),('HP:0001287','Meningitis','Inflammation of the meninges.'),('HP:0001288','Gait disturbance','The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.'),('HP:0001289','Confusion','Lack of clarity and coherence of thought, perception, understanding, or action.'),('HP:0001290','Generalized hypotonia','Generalized muscular hypotonia (abnormally low muscle tone).'),('HP:0001291','Abnormal cranial nerve morphology','Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.'),('HP:0001293','Cranial nerve compression',''),('HP:0001297','Stroke','Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.'),('HP:0001298','Encephalopathy','Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.'),('HP:0001300','Parkinsonism','Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.'),('HP:0001301','Chronic sensorineural polyneuropathy',''),('HP:0001302','Pachygyria','Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.'),('HP:0001304','Torsion dystonia','Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.'),('HP:0001305','Dandy-Walker malformation','A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman`s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.'),('HP:0001308','Tongue fasciculations','Fasciculations or fibrillation affecting the tongue muscle.'),('HP:0001310','Dysmetria','A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.'),('HP:0001311','Abnormal nervous system electrophysiology','An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.'),('HP:0001312','Giant somatosensory evoked potentials','An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.'),('HP:0001315','Reduced tendon reflexes','Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.'),('HP:0001317','Abnormal cerebellum morphology','Any structural abnormality of the cerebellum.'),('HP:0001319','Neonatal hypotonia','Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.'),('HP:0001320','Cerebellar vermis hypoplasia','Underdevelopment of the vermis of cerebellum.'),('HP:0001321','Cerebellar hypoplasia','Underdevelopment of the cerebellum.'),('HP:0001322','obsolete Brain very small',''),('HP:0001324','Muscle weakness','Reduced strength of muscles.'),('HP:0001325','Hypoglycemic coma',''),('HP:0001326','EEG with irregular generalized spike and wave complexes','EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.'),('HP:0001327','Photosensitive myoclonic seizure','Generalised myoclonic seizure provoked by flashing or flickering light.'),('HP:0001328','Specific learning disability','Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.'),('HP:0001331','Absent septum pellucidum','Absence of the septum pellucidum.'),('HP:0001332','Dystonia','An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.'),('HP:0001334','Communicating hydrocephalus','A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.'),('HP:0001335','Bimanual synkinesia','Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.'),('HP:0001336','Myoclonus','Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.'),('HP:0001337','Tremor','An unintentional, oscillating to-and-fro muscle movement about a joint axis.'),('HP:0001338','Partial agenesis of the corpus callosum','A partial failure of the development of the corpus callosum.'),('HP:0001339','Lissencephaly','A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.'),('HP:0001340','Enhancement of the C-reflex','Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.'),('HP:0001341','Olfactory lobe agenesis',''),('HP:0001342','Cerebral hemorrhage','Hemorrhage into the parenchyma of the brain.'),('HP:0001343','Kernicterus','Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.'),('HP:0001344','Absent speech','Complete lack of development of speech and language abilities.'),('HP:0001345','Psychotic mentation',''),('HP:0001347','Hyperreflexia','Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.'),('HP:0001348','Brisk reflexes','Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.'),('HP:0001349','Facial diplegia','Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).'),('HP:0001350','Slurred speech','Abnormal coordination of muscles involved in speech.'),('HP:0001351','Jerk-locked premyoclonus spikes','Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.'),('HP:0001355','Megalencephaly','Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).'),('HP:0001357','Plagiocephaly','Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.'),('HP:0001360','Holoprosencephaly','Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.'),('HP:0001361','Nystagmus-induced head nodding','Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.'),('HP:0001362','Calvarial skull defect','A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.'),('HP:0001363','Craniosynostosis','Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.'),('HP:0001367','Abnormal joint morphology','An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.'),('HP:0001369','Arthritis','Inflammation of a joint.'),('HP:0001370','Rheumatoid arthritis','Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.'),('HP:0001371','Flexion contracture','A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.'),('HP:0001373','Joint dislocation','Displacement or malalignment of joints.'),('HP:0001374','Congenital hip dislocation',''),('HP:0001376','Limitation of joint mobility','A reduction in the freedom of movement of one or more joints.'),('HP:0001377','Limited elbow extension','Limited ability to straighten the arm at the elbow joint.'),('HP:0001379','obsolete Degenerative joint disease',''),('HP:0001380','obsolete Ligamentous laxity',''),('HP:0001382','Joint hypermobility','The ability of a joint to move beyond its normal range of motion.'),('HP:0001384','Abnormality of the hip joint','An abnormality of the hip joint.'),('HP:0001385','Hip dysplasia','The presence of developmental dysplasia of the hip.'),('HP:0001386','Joint swelling',''),('HP:0001387','Joint stiffness','Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.'),('HP:0001388','Joint laxity','Lack of stability of a joint.'),('HP:0001392','Abnormality of the liver','An abnormality of the liver.'),('HP:0001394','Cirrhosis','A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.'),('HP:0001395','Hepatic fibrosis','The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.'),('HP:0001396','Cholestasis','Impairment of bile flow due to obstruction in bile ducts.'),('HP:0001397','Hepatic steatosis','The presence of steatosis in the liver.'),('HP:0001399','Hepatic failure',''),('HP:0001400','obsolete Hepatic abscesses due to immunodeficiency',''),('HP:0001401','Intrahepatic biliary dysgenesis',''),('HP:0001402','Hepatocellular carcinoma','A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.'),('HP:0001403','Macrovesicular hepatic steatosis','A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.'),('HP:0001404','Hepatocellular necrosis',''),('HP:0001405','Periportal fibrosis','The presence of fibrosis affecting the interlobular stroma of liver.'),('HP:0001406','Intrahepatic cholestasis','Impairment of bile flow due to obstruction in the small bile ducts within the liver.'),('HP:0001407','Hepatic cysts',''),('HP:0001408','Bile duct proliferation','Proliferative changes of the bile ducts.'),('HP:0001409','Portal hypertension','Increased pressure in the portal vein.'),('HP:0001410','Decreased liver function','Reduced ability of the liver to perform its functions.'),('HP:0001412','Enteroviral hepatitis','Inflammation of the liver due to infection with enterovirus.'),('HP:0001413','Micronodular cirrhosis','A type of cirrhosis characterized by the presence of small regenerative nodules.'),('HP:0001414','Microvesicular hepatic steatosis','A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.'),('HP:0001417','X-linked inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.'),('HP:0001419','X-linked recessive inheritance','A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.'),('HP:0001421','Abnormality of the musculature of the hand',''),('HP:0001423','X-linked dominant inheritance','A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.'),('HP:0001425','Heterogeneous',''),('HP:0001426','Multifactorial inheritance','A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.'),('HP:0001427','Mitochondrial inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).'),('HP:0001428','Somatic mutation','A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.'),('HP:0001430','Abnormality of the calf musculature',''),('HP:0001433','Hepatosplenomegaly','Simultaneous enlargement of the liver and spleen.'),('HP:0001435','Abnormality of the shoulder girdle musculature',''),('HP:0001436','Abnormality of the foot musculature','An anomaly of the musculature of foot.'),('HP:0001437','Abnormality of the musculature of the lower limbs',''),('HP:0001438','Abnormality of abdomen morphology','A structural abnormality of the abdomen (`belly`), that is, the part of the body between the pelvis and the thorax.'),('HP:0001440','Metatarsal synostosis',''),('HP:0001441','Abnormality of the musculature of the thigh',''),('HP:0001442','Somatic mosaicism','The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.'),('HP:0001443','Abnormality of the gluteal musculature',''),('HP:0001444','Autosomal dominant somatic cell mutation','Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.'),('HP:0001445','Abnormality of the hip-girdle musculature',''),('HP:0001446','Abnormality of the musculature of the upper limbs',''),('HP:0001449','Duplication of metatarsal bones',''),('HP:0001450','Y-linked inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.'),('HP:0001452','Autosomal dominant contiguous gene syndrome',''),('HP:0001454','Abnormality of the upper arm',''),('HP:0001457','Abnormality of the musculature of the upper arm',''),('HP:0001459','1-3 toe syndactyly','Syndactyly with fusion of toes one to three.'),('HP:0001460','Aplasia/Hypoplasia involving the skeletal musculature','Absence or underdevelopment of the musculature.'),('HP:0001464','Aplasia/Hypoplasia involving the shoulder musculature','Absence or underdevelopment of the muscles of the shoulder.'),('HP:0001465','Amyotrophy involving the shoulder musculature',''),('HP:0001466','Contiguous gene syndrome',''),('HP:0001467','Aplasia/Hypoplasia involving the musculature of the upper limbs','Absence or underdevelopment of the musculature of the upper limbs.'),('HP:0001468','Aplasia/Hypoplasia involving the musculature of the upper arm','Absence or underdevelopment of the muscles of the upper arm.'),('HP:0001469','Abnormal morphology of the pelvis musculature',''),('HP:0001470','Sex-limited autosomal dominant',''),('HP:0001471','Aplasia/Hypoplasia of the musculature of the pelvis',''),('HP:0001472','obsolete Familial predisposition',''),('HP:0001473','Metatarsal osteolysis','Osteolysis involving metatarsal bones.'),('HP:0001474','Sclerotic scapulae','Increased density of the bony tissue of the scapula.'),('HP:0001475','Male-limited autosomal dominant',''),('HP:0001476','Delayed closure of the anterior fontanelle','A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.'),('HP:0001477','Compensatory chin elevation','A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.'),('HP:0001480','Freckling','The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.'),('HP:0001482','Subcutaneous nodule','Slightly elevated lesions on or in the skin with a diameter of over 5 mm.'),('HP:0001483','Eye poking','Repetitive pressing, poking, and/or rubbing in the eyes.'),('HP:0001487','obsolete Hypopigmented fundi',''),('HP:0001488','Bilateral ptosis',''),('HP:0001489','Posterior vitreous detachment','Separation of the vitreous humor from the retina.'),('HP:0001491','Congenital fibrosis of extraocular muscles','Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.'),('HP:0001492','Axenfeld anomaly','Axenfeld`s anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe`s line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe`s line.'),('HP:0001493','Falciform retinal fold','An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.'),('HP:0001495','Carpal osteolysis','Osteolysis affecting carpal bones.'),('HP:0001498','Carpal bone hypoplasia','Underdevelopment of one or more carpal bones.'),('HP:0001500','Broad finger','Increased width of a non-thumb digit of the hand.'),('HP:0001501','6 metacarpals',''),('HP:0001504','Metacarpal osteolysis',''),('HP:0001507','Growth abnormality',''),('HP:0001508','Failure to thrive','Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.'),('HP:0001510','Growth delay','A deficiency or slowing down of growth pre- and postnatally.'),('HP:0001511','Intrauterine growth retardation','An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.'),('HP:0001513','Obesity','Accumulation of substantial excess body fat.'),('HP:0001518','Small for gestational age','Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.'),('HP:0001519','Disproportionate tall stature','A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.'),('HP:0001520','Large for gestational age','The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.'),('HP:0001522','Death in infancy','Death within the first 24 months of life.'),('HP:0001525','Severe failure to thrive',''),('HP:0001528','Hemihypertrophy','Overgrowth of only one side of the body.'),('HP:0001530','Mild postnatal growth retardation','A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.'),('HP:0001531','Failure to thrive in infancy',''),('HP:0001533','Slender build','Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.'),('HP:0001537','Umbilical hernia','Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'),('HP:0001538','Protuberant abdomen','A thrusting or bulging out of the abdomen.'),('HP:0001539','Omphalocele','A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.'),('HP:0001540','Diastasis recti','A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).'),('HP:0001541','Ascites','Accumulation of fluid in the peritoneal cavity.'),('HP:0001543','Gastroschisis','A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.'),('HP:0001544','Prominent umbilicus','Abnormally prominent umbilicus (belly button).'),('HP:0001545','Anteriorly placed anus','Anterior malposition of the anus.'),('HP:0001547','Abnormality of the rib cage','A morphological anomaly of the rib cage.'),('HP:0001548','Overgrowth','Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.'),('HP:0001549','Abnormal ileum morphology',''),('HP:0001551','Abnormal umbilicus morphology','An abnormality of the structure or appearance of the umbilicus.'),('HP:0001552','Barrel-shaped chest','A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.'),('HP:0001555','Asymmetry of the thorax','Lack of symmetry between the left and right halves of the thorax.'),('HP:0001557','Prenatal movement abnormality','An abnormality of fetal movement.'),('HP:0001558','Decreased fetal movement','An abnormal reduction in quantity or strength of fetal movements.'),('HP:0001560','Abnormality of the amniotic fluid','Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.'),('HP:0001561','Polyhydramnios','The presence of excess amniotic fluid in the uterus during pregnancy.'),('HP:0001562','Oligohydramnios','Diminished amniotic fluid volume in pregnancy.'),('HP:0001563','Fetal polyuria','Abnormally increased production of urine by the fetus resulting in polyhydramnios.'),('HP:0001566','Widely-spaced maxillary central incisors','Increased distance between the maxillary central permanent incisor tooth.'),('HP:0001571','Multiple impacted teeth','The presence of multiple impacted teeth.'),('HP:0001572','Macrodontia','Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.'),('HP:0001574','Abnormality of the integument','An abnormality of the integument, which consists of the skin and the superficial fascia.'),('HP:0001575','Mood changes',''),('HP:0001578','Hypercortisolism','Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.'),('HP:0001579','Primary hypercortisolism','Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.'),('HP:0001580','Pigmented micronodular adrenocortical disease',''),('HP:0001581','Recurrent skin infections','Infections of the skin that happen multiple times.'),('HP:0001582','Redundant skin','Loose and sagging skin often associated with loss of skin elasticity.'),('HP:0001583','Rotary nystagmus','A form of nystagmus in which the eyeball makes rotary motions around the axis.'),('HP:0001586','Vesicovaginal fistula','The presence of a fistula connecting the urinary bladder to the vagina.'),('HP:0001587','obsolete Primary ovarian failure',''),('HP:0001591','Bell-shaped thorax','The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.'),('HP:0001592','Selective tooth agenesis','Agenesis specifically affecting one of the classes incisor, premolar, or molar.'),('HP:0001593','Maxillary lateral incisor microdontia','Decreased size of the maxillary permanent incisor.'),('HP:0001595','Abnormal hair morphology','An abnormality of the hair.'),('HP:0001596','Alopecia','A noncongenital process of hair loss, which may progress to partial or complete baldness.'),('HP:0001597','Abnormality of the nail','Abnormality of the nail.'),('HP:0001598','Concave nail','The natural longitudinal (posterodistal) convex arch is not present or is inverted.'),('HP:0001600','Abnormality of the larynx','An abnormality of the larynx.'),('HP:0001601','Laryngomalacia','Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.'),('HP:0001602','Laryngeal stenosis','Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.'),('HP:0001604','Vocal cord paresis','Decreased strength of the vocal folds.'),('HP:0001605','Vocal cord paralysis','A loss of the ability to move the vocal folds.'),('HP:0001606','obsolete Vocal cord paralysis (caused by tumor impingement)',''),('HP:0001607','Subglottic stenosis',''),('HP:0001608','Abnormality of the voice',''),('HP:0001609','Hoarse voice','Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.'),('HP:0001611','Nasal speech','A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.'),('HP:0001612','Weak cry',''),('HP:0001613','obsolete Hoarse voice (caused by tumor impingement)',''),('HP:0001615','Hoarse cry',''),('HP:0001618','Dysphonia','An impairment in the ability to produce voice sounds.'),('HP:0001620','High pitched voice','An abnormal increase in the pitch (frequency) of the voice.'),('HP:0001621','Weak voice','Reduced intensity (volume) of speech.'),('HP:0001622','Premature birth','The birth of a baby of less than 37 weeks of gestational age.'),('HP:0001623','Breech presentation','A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.'),('HP:0001626','Abnormality of the cardiovascular system','Any abnormality of the cardiovascular system.'),('HP:0001627','Abnormal heart morphology','Any structural anomaly of the heart.'),('HP:0001629','Ventricular septal defect','A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.'),('HP:0001631','Atrial septal defect','Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.'),('HP:0001633','Abnormal mitral valve morphology','Any structural anomaly of the mitral valve.'),('HP:0001634','Mitral valve prolapse','One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.'),('HP:0001635','Congestive heart failure','The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.'),('HP:0001636','Tetralogy of Fallot','A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.'),('HP:0001637','Abnormal myocardium morphology','A structural anomaly of the muscle layer of the heart wall.'),('HP:0001638','Cardiomyopathy','A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.'),('HP:0001639','Hypertrophic cardiomyopathy','Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.'),('HP:0001640','Cardiomegaly','Increased size of the heart.'),('HP:0001641','Abnormal pulmonary valve morphology','Any structural abnormality of the pulmonary valve.'),('HP:0001642','Pulmonic stenosis','A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).'),('HP:0001643','Patent ductus arteriosus','In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.'),('HP:0001644','Dilated cardiomyopathy','Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.'),('HP:0001645','Sudden cardiac death','The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).'),('HP:0001646','Abnormal aortic valve morphology','Any abnormality of the aortic valve.'),('HP:0001647','Bicuspid aortic valve','The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).'),('HP:0001648','Cor pulmonale','Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.'),('HP:0001649','Tachycardia','A rapid heartrate that exceeds the range of the normal resting heartrate for age.'),('HP:0001650','Aortic valve stenosis','The presence of a stenosis (narrowing) of the aortic valve.'),('HP:0001651','Dextrocardia','The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.'),('HP:0001653','Mitral regurgitation','An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.'),('HP:0001654','Abnormal heart valve morphology','Any structural abnormality of a cardiac valve.'),('HP:0001655','Patent foramen ovale','Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.'),('HP:0001657','Prolonged QT interval','Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).'),('HP:0001658','Myocardial infarction','Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.'),('HP:0001659','Aortic regurgitation','An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.'),('HP:0001660','Truncus arteriosus','A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.'),('HP:0001662','Bradycardia','A slower than normal heart rate (in adults, slower than 60 beats per minute).'),('HP:0001663','Ventricular fibrillation','Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.'),('HP:0001664','Torsade de pointes','A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.'),('HP:0001667','Right ventricular hypertrophy','In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.'),('HP:0001669','Transposition of the great arteries','A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.'),('HP:0001670','Asymmetric septal hypertrophy','Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.'),('HP:0001671','Abnormal cardiac septum morphology','An anomaly of the intra-atrial or intraventricular septum.'),('HP:0001673','obsolete Tachycardia (with pheochromocytoma)',''),('HP:0001674','Complete atrioventricular canal defect','A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.'),('HP:0001675','obsolete Rhythm disturbances associated with pheochromocytoma',''),('HP:0001676','obsolete Palpitations (with pheochromocytoma)',''),('HP:0001677','Coronary artery atherosclerosis','Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.'),('HP:0001678','Atrioventricular block','Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.'),('HP:0001679','Abnormal aortic morphology','An abnormality of the aorta.'),('HP:0001680','Coarctation of aorta','Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.'),('HP:0001681','Angina pectoris','Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.'),('HP:0001682','Subvalvular aortic stenosis','A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.'),('HP:0001683','Ectopia cordis','Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.'),('HP:0001684','Secundum atrial septal defect','A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.'),('HP:0001685','Myocardial fibrosis','Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.'),('HP:0001686','Loss of voice',''),('HP:0001688','Sinus bradycardia','Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.'),('HP:0001691','Muscular subvalvular aortic stenosis','A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.'),('HP:0001692','Atrial arrhythmia','A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.'),('HP:0001693','Cardiac shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.'),('HP:0001694','Right-to-left shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.'),('HP:0001695','Cardiac arrest','An abrupt loss of heart function.'),('HP:0001696','Situs inversus totalis','A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs.'),('HP:0001697','Abnormal pericardium morphology','An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.'),('HP:0001698','Pericardial effusion','Accumulation of fluid within the pericardium.'),('HP:0001699','Sudden death','Rapid and unexpected death.'),('HP:0001700','Myocardial necrosis','Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).'),('HP:0001701','Pericarditis','Inflammation of the sac-like covering around the heart (pericardium).'),('HP:0001702','Abnormal tricuspid valve morphology','Any structural anomaly of the tricuspid valve.'),('HP:0001704','Tricuspid valve prolapse','One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.'),('HP:0001705','Right ventricular outlet tract obstruction','An obstruction to the forward flow of blood in the outflow tract of the right ventricle.'),('HP:0001706','Endocardial fibroelastosis','Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction'),('HP:0001707','Abnormal right ventricle morphology','An abnormality of the right ventricle of the heart.'),('HP:0001708','Right ventricular failure','Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.'),('HP:0001709','Third degree atrioventricular block','Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.'),('HP:0001710','Conotruncal defect','A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.'),('HP:0001711','Abnormal left ventricle morphology','Any structural abnormality of the left ventricle of the heart.'),('HP:0001712','Left ventricular hypertrophy','Enlargement or increased size of the heart left ventricle.'),('HP:0001713','Abnormal cardiac ventricle morphology','An abnormality of a cardiac ventricle.'),('HP:0001714','Ventricular hypertrophy','Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.'),('HP:0001716','Wolff-Parkinson-White syndrome','A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.'),('HP:0001717','Coronary artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.'),('HP:0001718','Mitral stenosis','An abnormal narrowing of the orifice of the mitral valve.'),('HP:0001719','Double outlet right ventricle','Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.'),('HP:0001722','High-output congestive heart failure','A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.'),('HP:0001723','Restrictive cardiomyopathy','Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.'),('HP:0001724','obsolete Aortic dilatation',''),('HP:0001726','obsolete Increased prevalence of valvular disease',''),('HP:0001727','Thromboembolic stroke','A cerebrovascular accident (stroke) that occurs because of thromboembolism.'),('HP:0001730','Progressive hearing impairment','A progressive form of hearing impairment.'),('HP:0001732','Abnormality of the pancreas','An abnormality of the pancreas.'),('HP:0001733','Pancreatitis','The presence of inflammation in the pancreas.'),('HP:0001734','Annular pancreas','A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.'),('HP:0001735','Acute pancreatitis','A acute form of pancreatitis.'),('HP:0001737','Pancreatic cysts','A cyst of the pancreas that possess a lining of mucous epithelium.'),('HP:0001738','Exocrine pancreatic insufficiency','Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.'),('HP:0001739','Abnormality of the nasopharynx',''),('HP:0001741','Phimosis','The male foreskin cannot be fully retracted from the head of the penis.'),('HP:0001742','Nasal obstruction','Reduced ability to pass air through the nasal cavity often leading to mouth breathing.'),('HP:0001743','Abnormality of the spleen','An abnormality of the spleen.'),('HP:0001744','Splenomegaly','Abnormal increased size of the spleen.'),('HP:0001746','Asplenia','Absence (aplasia) of the spleen.'),('HP:0001747','Accessory spleen','An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.'),('HP:0001748','Polysplenia','Polysplenia is a congenital disease manifested by multiple small accessory spleens.'),('HP:0001750','Single ventricle','The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.'),('HP:0001751','Vestibular dysfunction','An abnormality of the functioning of the vestibular apparatus.'),('HP:0001756','Vestibular hypofunction','Reduced functioning of the vestibular apparatus.'),('HP:0001757','High-frequency sensorineural hearing impairment','A form of sensorineural hearing impairment that affects primarily the higher frequencies.'),('HP:0001760','Abnormality of the foot','An abnormality of the skeleton of foot.'),('HP:0001761','Pes cavus','The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.'),('HP:0001762','Talipes equinovarus','Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.'),('HP:0001763','Pes planus','A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.'),('HP:0001765','Hammertoe','Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.'),('HP:0001769','Broad foot','A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.'),('HP:0001770','Toe syndactyly','Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0001771','Achilles tendon contracture','A contracture of the Achilles tendon.'),('HP:0001772','Talipes equinovalgus','A deformity of foot and ankle in which the foot is bent down and outwards.'),('HP:0001773','Short foot','A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).'),('HP:0001775','Tarsal osteovalgus',''),('HP:0001776','Bilateral talipes equinovarus','Bilateral clubfoot deformity (see HP:0001762).'),('HP:0001780','Abnormality of toe','An anomaly of a toe.'),('HP:0001782','Bulbous tips of toes','An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.'),('HP:0001783','Broad metatarsal','Increased side-to-side width of a metatarsal bone.'),('HP:0001785','Ankle swelling',''),('HP:0001786','Narrow foot','A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.'),('HP:0001787','Abnormal delivery','An abnormality of the birth process.'),('HP:0001788','Premature rupture of membranes','Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.'),('HP:0001789','Hydrops fetalis','The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.'),('HP:0001790','Nonimmune hydrops fetalis','A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .'),('HP:0001791','Fetal ascites','Accumulation of fluid in the peritoneal cavity during the fetal period.'),('HP:0001792','Small nail','A nail that is diminished in length and width, i.e., underdeveloped nail.'),('HP:0001795','Hyperconvex nail','When viewed on end (with the digit tip pointing toward the examiner`s eye) the curve of the nail forms a tighter curve of convexity.'),('HP:0001798','Anonychia','Aplasia of the nail.'),('HP:0001799','Short nail','Decreased length of nail.'),('HP:0001800','Hypoplastic toenails','Underdevelopment of the toenail.'),('HP:0001802','Absent toenail','Congenital absence of the toenail.'),('HP:0001803','Nail pits','Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.'),('HP:0001804','Hypoplastic fingernail','Underdevelopment of a fingernail.'),('HP:0001805','Onychogryposis','Nail that appears thick when viewed on end.'),('HP:0001806','Onycholysis','Detachment of the nail from the nail bed.'),('HP:0001807','Ridged nail','Longitudinal, linear prominences in the nail plate.'),('HP:0001808','Fragile nails','Nails that easily break.'),('HP:0001809','Split nail','A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.'),('HP:0001810','Dystrophic toenail','Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.'),('HP:0001812','Hyperconvex fingernails','When viewed on end (with the finger tip pointing toward the examiner`s eye) the curve of the fingernail forms a tighter curve of convexity.'),('HP:0001814','Deep-set nails','Deeply placed nails.'),('HP:0001816','Thin nail','Nail that appears thin when viewed on end.'),('HP:0001817','Absent fingernail','Absence of a fingernail.'),('HP:0001818','Paronychia','The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).'),('HP:0001820','Leukonychia','White discoloration of the nails.'),('HP:0001821','Broad nail','Increased width of nail.'),('HP:0001822','Hallux valgus','Lateral deviation of the great toe (i.e., in the direction of the little toe).'),('HP:0001824','Weight loss','Reduction inexisting body weight.'),('HP:0001827','Genital tract atresia','Congenital occlusion of a tube in the genital tract.'),('HP:0001829','Foot polydactyly','A kind of polydactyly characterized by the presence of a supernumerary toe or toes.'),('HP:0001830','Postaxial foot polydactyly','Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.'),('HP:0001831','Short toe','A toe that appears disproportionately short compared to the foot.'),('HP:0001832','Abnormal metatarsal morphology','Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).'),('HP:0001833','Long foot','Increased back to front length of the foot.'),('HP:0001836','Camptodactyly of toe','Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.'),('HP:0001837','Broad toe','Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.'),('HP:0001838','Rocker bottom foot','The presence of both a prominent heel and a convex contour of the sole.'),('HP:0001839','Split foot','A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.'),('HP:0001840','Metatarsus adductus','The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.'),('HP:0001841','Preaxial foot polydactyly','Duplication of all or part of the first ray.'),('HP:0001842','Foot acroosteolysis',''),('HP:0001844','Abnormality of the hallux','This term applies for all abnormalities of the big toe, also called hallux.'),('HP:0001845','Overlapping toe','Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.'),('HP:0001847','Long hallux','Increased length of the big toe.'),('HP:0001848','Calcaneovalgus deformity','This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).'),('HP:0001849','Foot oligodactyly','A developmental defect resulting in the presence of fewer than the normal number of toes.'),('HP:0001850','Abnormality of the tarsal bones','An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.'),('HP:0001852','Sandal gap','A widely spaced gap between the first toe (the great toe) and the second toe.'),('HP:0001853','Bifid distal phalanx of toe',''),('HP:0001854','Podagra','Gout affecting the Metatarsophalangeal joint of big toe.'),('HP:0001857','Short distal phalanx of toe','Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.'),('HP:0001859','Distal foot symphalangism',''),('HP:0001862','obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)',''),('HP:0001863','Toe clinodactyly','Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).'),('HP:0001864','Clinodactyly of the 5th toe','Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).'),('HP:0001868','Autoamputation of foot','Spontaneous detachment of a foot from the body.'),('HP:0001869','Deep plantar creases','The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.'),('HP:0001870','Acroosteolysis of distal phalanges (feet)',''),('HP:0001871','Abnormality of blood and blood-forming tissues','An abnormality of the hematopoietic system.'),('HP:0001872','Abnormal thrombocyte morphology','An abnormality of platelets.'),('HP:0001873','Thrombocytopenia','A reduction in the number of circulating thrombocytes.'),('HP:0001874','Abnormality of neutrophils','A neutrophil abnormality.'),('HP:0001875','Neutropenia','An abnormally low number of neutrophils in the peripheral blood.'),('HP:0001876','Pancytopenia','An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).'),('HP:0001877','Abnormal erythrocyte morphology','Any structural abnormality of erythrocytes (red-blood cells).'),('HP:0001878','Hemolytic anemia','A type of anemia caused by premature destruction of red blood cells (hemolysis).'),('HP:0001879','Abnormal eosinophil morphology','An abnormal count or structure of eosinophils.'),('HP:0001880','Eosinophilia','Increased count of eosinophils in the blood.'),('HP:0001881','Abnormal leukocyte morphology','An abnormality of leukocytes.'),('HP:0001882','Leukopenia','An abnormal decreased number of leukocytes in the blood.'),('HP:0001883','Talipes','A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.'),('HP:0001884','Talipes calcaneovalgus','Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.'),('HP:0001885','Short 2nd toe','Underdevelopment (hypoplasia) of the second toe.'),('HP:0001886','Foot osteomyelitis','An infection of bone of the foot.'),('HP:0001888','Lymphopenia','A reduced number of lymphocytes in the blood.'),('HP:0001889','Megaloblastic anemia','Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).'),('HP:0001890','Autoimmune hemolytic anemia','An autoimmune form of hemolytic anemia.'),('HP:0001891','Iron deficiency anemia',''),('HP:0001892','Abnormal bleeding','An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.'),('HP:0001894','Thrombocytosis','Increased numbers of platelets in the peripheral blood.'),('HP:0001895','Normochromic anemia',''),('HP:0001896','Reticulocytopenia','A reduced number of reticulocytes in the peripheral blood.'),('HP:0001897','Normocytic anemia','A kind of anemia in which the volume of the red blood cells is normal.'),('HP:0001898','Increased red blood cell mass','The presence of an increased mass of red blood cells in the circulation.'),('HP:0001899','Increased hematocrit','An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.'),('HP:0001900','Increased hemoglobin',''),('HP:0001901','Polycythemia','Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.'),('HP:0001902','Giant platelets','Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).'),('HP:0001903','Anemia','A reduction in erythrocytes volume or hemoglobin concentration.'),('HP:0001904','Neutropenia in presence of anti-neutropil antibodies','A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.'),('HP:0001905','Congenital thrombocytopenia','Thrombocytopenia with congenital onset.'),('HP:0001907','Thromboembolism','The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.'),('HP:0001908','Hypoplastic anemia','Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.'),('HP:0001909','Leukemia','A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.'),('HP:0001911','Abnormal granulocyte morphology','Any structural abnormality or abnormal count of granulocytes.'),('HP:0001912','Abnormal basophil morphology','Any structural abnormality or abnormal count of basophils.'),('HP:0001913','Granulocytopenia','An abnormally reduced number of granulocytes in the blood.'),('HP:0001915','Aplastic anemia','Aplastic anemia is defined as pancytopenia with a hypocellular marrow.'),('HP:0001917','Renal amyloidosis','A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).'),('HP:0001919','Acute kidney injury','Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).'),('HP:0001920','Renal artery stenosis','The presence of stenosis of the renal artery.'),('HP:0001922','Vacuolated lymphocytes','The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.'),('HP:0001923','Reticulocytosis','An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.'),('HP:0001924','Sideroblastic anemia','Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).'),('HP:0001927','Acanthocytosis','Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.'),('HP:0001928','Abnormality of coagulation','An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.'),('HP:0001929','Reduced factor XI activity','Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.'),('HP:0001930','Nonspherocytic hemolytic anemia',''),('HP:0001931','Hypochromic anemia','A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.'),('HP:0001933','Subcutaneous hemorrhage','This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).'),('HP:0001934','Persistent bleeding after trauma',''),('HP:0001935','Microcytic anemia','A kind of anemia in which the volume of the red blood cells is reduced.'),('HP:0001937','Microangiopathic hemolytic anemia',''),('HP:0001939','Abnormality of metabolism/homeostasis',''),('HP:0001941','Acidosis','Abnormal acid accumulation or depletion of base.'),('HP:0001942','Metabolic acidosis','Acid accumulation or depletion of base in the body due to buildup of metabolic acids.'),('HP:0001943','Hypoglycemia','A decreased concentration of glucose in the blood.'),('HP:0001944','Dehydration',''),('HP:0001945','Fever','Elevated body temperature due to failed thermoregulation.'),('HP:0001946','Ketosis','Presence of elevated levels of ketone bodies in the body.'),('HP:0001947','Renal tubular acidosis','Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.'),('HP:0001948','Alkalosis','Depletion of acid or accumulation base in the body fluids.'),('HP:0001949','Hypokalemic alkalosis',''),('HP:0001950','Respiratory alkalosis','Alkalosis due to excess loss of carbon dioxide from the body.'),('HP:0001951','Episodic ammonia intoxication',''),('HP:0001952','Glucose intolerance','Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).'),('HP:0001953','Diabetic ketoacidosis','A type of diabetic metabolic abnormality with an accumulation of ketone bodies.'),('HP:0001954','Recurrent fever','Periodic (episodic or recurrent) bouts of fever.'),('HP:0001955','Unexplained fevers','Episodes of fever for which no infectious cause can be identified.'),('HP:0001956','Truncal obesity','Obesity located preferentially in the trunk of the body as opposed to the extremities.'),('HP:0001958','Nonketotic hypoglycemia',''),('HP:0001959','Polydipsia','Excessive thirst manifested by excessive fluid intake.'),('HP:0001960','Hypokalemic metabolic alkalosis',''),('HP:0001961','Hypoplastic heart',''),('HP:0001962','Palpitations','A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.'),('HP:0001963','Abnormal speech discrimination','A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.'),('HP:0001964','Aplasia/Hypoplasia of metatarsal bones','Absence or underdevelopment of the metatarsal bones.'),('HP:0001965','Abnormality of the scalp','Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.'),('HP:0001966','Mesangial abnormality','An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.'),('HP:0001967','Diffuse mesangial sclerosis','Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.'),('HP:0001969','Abnormal tubulointerstitial morphology','An abnormality that involves the tubules and interstitial tissue of the kidney.'),('HP:0001970','Tubulointerstitial nephritis','A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.'),('HP:0001971','Hypersplenism','A malfunctioning of the spleen in which it prematurely destroys red blood cells.'),('HP:0001972','Macrocytic anemia','A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).'),('HP:0001973','Autoimmune thrombocytopenia','The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.'),('HP:0001974','Leukocytosis','An abnormal increase in the number of leukocytes in the blood.'),('HP:0001975','Decreased platelet glycoprotein IIb-IIIa','Decreased cell membrane concentration of glycoprotein IIb-IIIa.'),('HP:0001976','Reduced antithrombin III activity','An abnormality of coagulation related to a decreased concentration of antithrombin-III.'),('HP:0001977','Abnormal thrombosis','Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).'),('HP:0001978','Extramedullary hematopoiesis','The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.'),('HP:0001980','Megaloblastic bone marrow','Abnormal increased number of megaloblasts in the bone marrow.'),('HP:0001981','Schistocytosis','The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.'),('HP:0001982','Sea-blue histiocytosis','An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.'),('HP:0001983','Reduced lymphocyte surface expression of CD43','A reduction in the expression of CD43 on the cell surface of lymphocytes.'),('HP:0001984','Intolerance to protein',''),('HP:0001985','Hypoketotic hypoglycemia','A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.'),('HP:0001986','Hypertonic dehydration',''),('HP:0001987','Hyperammonemia','An increased concentration of ammonia in the blood.'),('HP:0001988','Recurrent hypoglycemia','Recurrent episodes of decreased concentration of glucose in the blood.'),('HP:0001989','Fetal akinesia sequence','Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).'),('HP:0001991','Aplasia/Hypoplasia of toe','Absence or hypoplasia of toes.'),('HP:0001992','Organic aciduria','Excretion of non-amino organic acids in urine.'),('HP:0001993','Ketoacidosis','Acidosis resulting from accumulation of ketone bodies.'),('HP:0001994','Renal Fanconi syndrome','An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.'),('HP:0001995','Hyperchloremic acidosis',''),('HP:0001996','Chronic metabolic acidosis','Longstanding metabolic acidosis.'),('HP:0001997','Gout','Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.'),('HP:0001998','Neonatal hypoglycemia',''),('HP:0001999','Abnormal facial shape','An abnormal morphology (form) of the face or its components.'),('HP:0002000','Short columella','Reduced distance from the anterior border of the naris to the subnasale.'),('HP:0002002','Deep philtrum','Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.'),('HP:0002003','Large forehead',''),('HP:0002006','Facial cleft','A congenital malformation with a cleft (gap or opening) in the face.'),('HP:0002007','Frontal bossing','Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.'),('HP:0002009','Potter facies','A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.'),('HP:0002010','Narrow maxilla',''),('HP:0002011','Morphological central nervous system abnormality','A structural abnormality of the central nervous system.'),('HP:0002012','Abnormality of the abdominal organs','An abnormality of the viscera of the abdomen.'),('HP:0002013','Vomiting','Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.'),('HP:0002014','Diarrhea','Abnormally increased frequency of loose or watery bowel movements.'),('HP:0002015','Dysphagia','Difficulty in swallowing.'),('HP:0002017','Nausea and vomiting',''),('HP:0002018','Nausea','A sensation of unease in the stomach together with an urge to vomit.'),('HP:0002019','Constipation','Infrequent or difficult evacuation of feces.'),('HP:0002020','Gastroesophageal reflux','A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.'),('HP:0002021','Pyloric stenosis','An abnormal narrowing of the pylorus.'),('HP:0002023','Anal atresia','Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.'),('HP:0002024','Malabsorption','Impaired ability to absorb one or more nutrients from the intestine.'),('HP:0002025','Anal stenosis','Abnormal narrowing of the anal opening.'),('HP:0002027','Abdominal pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.'),('HP:0002028','Chronic diarrhea','The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.'),('HP:0002031','Abnormal esophagus morphology','A structural abnormality of the esophagus.'),('HP:0002032','Esophageal atresia','A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.'),('HP:0002033','Poor suck','An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.'),('HP:0002034','Abnormality of the rectum','An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.'),('HP:0002035','Rectal prolapse','Protrusion of the rectal mucous membrane through the anus.'),('HP:0002036','Hiatus hernia','The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.'),('HP:0002037','Inflammation of the large intestine','Inflammation, or an inflammatory state in the large intestine.'),('HP:0002038','Protein avoidance',''),('HP:0002039','Anorexia','A lack or loss of appetite for food (as a medical condition).'),('HP:0002040','Esophageal varix','Extreme dilation of the submucusoal veins in the lower portion of the esophagus.'),('HP:0002041','Intractable diarrhea',''),('HP:0002043','Esophageal stricture','A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.'),('HP:0002044','Zollinger-Ellison syndrome','A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.'),('HP:0002045','Hypothermia','Reduced body temperature due to failed thermoregulation.'),('HP:0002046','Heat intolerance','The inability to maintain a comfortably body temperature in warm or hot weather.'),('HP:0002047','Malignant hyperthermia','Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.'),('HP:0002048','Renal cortical atrophy','Atrophy of the cortex of the kidney.'),('HP:0002049','Proximal renal tubular acidosis','A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.'),('HP:0002050','Macroorchidism, postpubertal',''),('HP:0002054','Heavy supraorbital ridges',''),('HP:0002055','Curved linear dimple below the lower lip',''),('HP:0002056','Abnormality of the glabella','An abnormality of the glabella.'),('HP:0002057','Prominent glabella','Forward protrusion of the glabella.'),('HP:0002058','Myopathic facies','A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.'),('HP:0002059','Cerebral atrophy','Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.'),('HP:0002060','Abnormal cerebral morphology','Any structural abnormality of the telencephalon, which is also known as the cerebrum.'),('HP:0002061','Lower limb spasticity','Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis'),('HP:0002062','Morphological abnormality of the pyramidal tract','Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.'),('HP:0002063','Rigidity','Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.'),('HP:0002064','Spastic gait','Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.'),('HP:0002066','Gait ataxia','A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.'),('HP:0002067','Bradykinesia','Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).'),('HP:0002068','Neuromuscular dysphagia',''),('HP:0002069','Bilateral tonic-clonic seizure','A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.'),('HP:0002070','Limb ataxia','A kind of ataxia that affects movements of the extremities.'),('HP:0002071','Abnormality of extrapyramidal motor function','A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).'),('HP:0002072','Chorea','Chorea (Greek for `dance`) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.'),('HP:0002073','Progressive cerebellar ataxia',''),('HP:0002074','Increased neuronal autofluorescent lipopigment','Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.'),('HP:0002075','Dysdiadochokinesis','A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.'),('HP:0002076','Migraine','Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.'),('HP:0002077','Migraine with aura','A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.'),('HP:0002078','Truncal ataxia','Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.'),('HP:0002079','Hypoplasia of the corpus callosum','Underdevelopment of the corpus callosum.'),('HP:0002080','Intention tremor','A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient`s nose or a physician`s finger).'),('HP:0002083','Migraine without aura','Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.'),('HP:0002084','Encephalocele','A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.'),('HP:0002085','Occipital encephalocele','A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.'),('HP:0002086','Abnormality of the respiratory system','An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.'),('HP:0002087','Abnormality of the upper respiratory tract','An abnormality of the upper respiratory tract.'),('HP:0002088','Abnormal lung morphology','Any structural anomaly of the lung.'),('HP:0002089','Pulmonary hypoplasia',''),('HP:0002090','Pneumonia','Inflammation of any part of the lung parenchyma.'),('HP:0002091','Restrictive ventilatory defect','A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.'),('HP:0002092','Pulmonary arterial hypertension','Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.'),('HP:0002093','Respiratory insufficiency',''),('HP:0002094','Dyspnea','Difficult or labored breathing.'),('HP:0002097','Emphysema',''),('HP:0002098','Respiratory distress','Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.'),('HP:0002099','Asthma','Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.'),('HP:0002100','Recurrent aspiration pneumonia','Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.'),('HP:0002101','Abnormal lung lobation','Defects in the formation of pulmonary lobes.'),('HP:0002102','Pleuritis','Inflammation of the pleura.'),('HP:0002103','Abnormal pleura morphology','An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.'),('HP:0002104','Apnea','Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.'),('HP:0002105','Hemoptysis','Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.'),('HP:0002107','Pneumothorax','Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.'),('HP:0002108','Spontaneous pneumothorax','Pneumothorax occurring without traumatic injury to the chest or lung.'),('HP:0002109','obsolete Abnormality of the bronchi',''),('HP:0002110','Bronchiectasis','Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.'),('HP:0002111','obsolete Restrictive deficit on pulmonary function testing',''),('HP:0002113','Pulmonary infiltrates',''),('HP:0002118','Abnormality of the cerebral ventricles','Abnormality of the cerebral ventricles.'),('HP:0002119','Ventriculomegaly','An increase in size of the ventricular system of the brain.'),('HP:0002120','Cerebral cortical atrophy','Atrophy of the cortex of the cerebrum.'),('HP:0002121','Generalized non-motor (absence) seizure','A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.'),('HP:0002123','Generalized myoclonic seizure','A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.'),('HP:0002126','Polymicrogyria','Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).'),('HP:0002127','Abnormal upper motor neuron morphology','Any structural anomaly that affects the upper motor neuron.'),('HP:0002131','Episodic ataxia','Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n'),('HP:0002132','Porencephalic cyst','A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.'),('HP:0002133','Status epilepticus','Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.'),('HP:0002134','Abnormality of the basal ganglia','Abnormality of the basal ganglia.'),('HP:0002135','Basal ganglia calcification','The presence of calcium deposition affecting one or more structures of the basal ganglia.'),('HP:0002136','Broad-based gait','An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.'),('HP:0002138','Subarachnoid hemorrhage','Hemorrhage occurring between the arachnoid mater and the pia mater.'),('HP:0002139','Arrhinencephaly',''),('HP:0002140','Ischemic stroke',''),('HP:0002141','Gait imbalance',''),('HP:0002143','Abnormality of the spinal cord','An abnormality of the spinal cord (myelon).'),('HP:0002144','Tethered cord','During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.'),('HP:0002145','Frontotemporal dementia','A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.'),('HP:0002148','Hypophosphatemia','An abnormally decreased phosphate concentration in the blood.'),('HP:0002149','Hyperuricemia','An abnormally high level of uric acid in the blood.'),('HP:0002150','Hypercalciuria',''),('HP:0002151','Increased serum lactate','Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).'),('HP:0002152','Hyperproteinemia','An increased concentration of proteins in the blood.'),('HP:0002153','Hyperkalemia','An abnormally increased potassium concentration in the blood.'),('HP:0002154','Hyperglycinemia','An elevated concentration of glycine in the blood.'),('HP:0002155','Hypertriglyceridemia','An abnormal increase in the level of triglycerides in the blood.'),('HP:0002156','Homocystinuria','An increased concentration of homocystine in the urine.'),('HP:0002157','Azotemia','An increased concentration of nitrogen compounds in the blood.'),('HP:0002159','Heparan sulfate excretion in urine','An increased concentration of heparan sulfates in the urine.'),('HP:0002160','Hyperhomocystinemia','An increased concentration of homocystine in the blood.'),('HP:0002161','Hyperlysinemia','An increased concentration of lysine in the blood.'),('HP:0002162','Low posterior hairline','Hair on the neck extends more inferiorly than usual.'),('HP:0002164','Nail dysplasia','The presence of developmental dysplasia of the nail.'),('HP:0002165','Pterygium of nails','Inward advance of skin over the nail plate.'),('HP:0002166','Impaired vibration sensation in the lower limbs','A decrease in the ability to perceive vibration in the legs.'),('HP:0002167','Neurological speech impairment',''),('HP:0002168','Scanning speech',''),('HP:0002169','Clonus','A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.'),('HP:0002170','Intracranial hemorrhage','Hemorrhage occurring within the skull.'),('HP:0002171','Gliosis','Gliosis is the focal proliferation of glial cells in the central nervous system.'),('HP:0002172','Postural instability','A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.'),('HP:0002173','Hypoglycemic seizures',''),('HP:0002174','Postural tremor','A type of tremors that is triggered by holding a limb in a fixed position.'),('HP:0002176','Spinal cord compression','External mechanical compression of the spinal cord.'),('HP:0002179','Opisthotonus',''),('HP:0002180','Neurodegeneration','Progressive loss of neural cells and tissue.'),('HP:0002181','Cerebral edema','Abnormal accumulation of fluid in the brain.'),('HP:0002183','Phonophobia','An abnormally heightened sensitivity to loud sounds.'),('HP:0002185','Neurofibrillary tangles','Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.'),('HP:0002186','Apraxia','A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.'),('HP:0002187','Intellectual disability, profound','Profound mental retardation is defined as an intelligence quotient (IQ) below 20.'),('HP:0002188','Delayed CNS myelination','Delayed myelination in the central nervous system.'),('HP:0002189','Excessive daytime sleepiness',''),('HP:0002190','Choroid plexus cyst','A cyst occurring within the choroid plexus within a cerebral ventricle.'),('HP:0002191','Progressive spasticity','Spasticity that increases in degree with time.'),('HP:0002193','Pseudobulbar behavioral symptoms','Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.'),('HP:0002194','Delayed gross motor development','A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.'),('HP:0002195','Dysgenesis of the cerebellar vermis','Defective development of the vermis of cerebellum.'),('HP:0002196','Myelopathy',''),('HP:0002197','Generalized-onset seizure','A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.'),('HP:0002198','Dilated fourth ventricle','An abnormal dilatation of the fourth cerebral ventricle.'),('HP:0002199','Hypocalcemic seizures',''),('HP:0002200','Pseudobulbar signs','Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.'),('HP:0002202','Pleural effusion','The presence of an excessive amount of fluid in the pleural cavity.'),('HP:0002203','Respiratory paralysis','Inability to move the muscles of respiration.'),('HP:0002204','Pulmonary embolism','An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.'),('HP:0002205','Recurrent respiratory infections','An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.'),('HP:0002206','Pulmonary fibrosis','Replacement of normal lung tissues by fibroblasts and collagen.'),('HP:0002207','Diffuse reticular or finely nodular infiltrations',''),('HP:0002208','Coarse hair','Hair shafts are rough in texture.'),('HP:0002209','Sparse scalp hair','Decreased number of hairs per unit area of skin of the scalp.'),('HP:0002211','White forelock','A triangular depigmented region of white hairs located in the anterior midline of the scalp.'),('HP:0002212','Curly hair',''),('HP:0002213','Fine hair','Hair that is fine or thin to the touch.'),('HP:0002215','Sparse axillary hair','Reduced number or density of axillary hair.'),('HP:0002216','Premature graying of hair','Development of gray hair at a younger than normal age.'),('HP:0002217','Slow-growing hair','Hair whose growth is slower than normal.'),('HP:0002218','Silver-gray hair','Hypopigmented hair that appears silver-gray.'),('HP:0002219','Facial hypertrichosis','Excessive, increased hair growth located in the facial region.'),('HP:0002220','Melanin pigment aggregation in hair shafts',''),('HP:0002221','Absent axillary hair','Absence of axillary hair.'),('HP:0002223','Absent eyebrow','Absence of the eyebrow.'),('HP:0002224','Woolly hair','The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.'),('HP:0002225','Sparse pubic hair','Reduced number or density of pubic hair.'),('HP:0002226','White eyebrow','White color (lack of pigmentation) of the eyebrow.'),('HP:0002227','White eyelashes','White color (lack of pigmentation) of the eyelashes.'),('HP:0002229','obsolete Alopecia areata',''),('HP:0002230','Generalized hirsutism','Abnormally increased hair growth over much of the entire body.'),('HP:0002231','Sparse body hair','Sparseness of the body hair.'),('HP:0002232','Patchy alopecia','Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.'),('HP:0002234','Early balding','Loss of scalp hair at an earlier than normal age.'),('HP:0002235','Pili canaliculi','Uncombable hair.'),('HP:0002236','Frontal upsweep of hair','Upward and/or sideward growth of anterior hair.'),('HP:0002239','Gastrointestinal hemorrhage','Hemorrhage affecting the gastrointestinal tract.'),('HP:0002240','Hepatomegaly','Abnormally increased size of the liver.'),('HP:0002242','Abnormal intestine morphology','An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.'),('HP:0002243','Protein-losing enteropathy','Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.'),('HP:0002244','Abnormality of the small intestine','An abnormality of the small intestine.'),('HP:0002245','Meckel diverticulum','Meckel`s diverticulum is a congenital diverticulum located in the distal ileum.'),('HP:0002246','Abnormality of the duodenum','An abnormality of the duodenum, i.e., the first section of the small intestine.'),('HP:0002247','Duodenal atresia','A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.'),('HP:0002248','Hematemesis','The vomiting of blood.'),('HP:0002249','Melena','The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.'),('HP:0002250','Abnormal large intestine morphology','Any abnormality of the large intestine.'),('HP:0002251','Aganglionic megacolon','An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.'),('HP:0002253','Colonic diverticula','The presence of multiple diverticula of the colon.'),('HP:0002254','Intermittent diarrhea',''),('HP:0002256','Small bowel diverticula',''),('HP:0002257','Chronic rhinitis','Chronic inflammation of the nasal mucosa.'),('HP:0002263','Exaggerated cupid`s bow','More pronounced paramedian peaks and median notch of the Cupid`s bow.'),('HP:0002265','Large fleshy ears',''),('HP:0002266','Focal clonic seizure','A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.'),('HP:0002267','Exaggerated startle response','An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.'),('HP:0002268','Paroxysmal dystonia','A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.'),('HP:0002269','Abnormality of neuronal migration','An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.'),('HP:0002270','Abnormality of the autonomic nervous system','An abnormality of the autonomic nervous system.'),('HP:0002271','obsolete Autonomic dysregulation',''),('HP:0002273','Tetraparesis','Weakness of all four limbs.'),('HP:0002275','Poor motor coordination',''),('HP:0002277','Horner syndrome','An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.'),('HP:0002280','Enlarged cisterna magna','Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.'),('HP:0002281','obsolete Gray matter heterotopias',''),('HP:0002282','Gray matter heterotopia','Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.'),('HP:0002283','Global brain atrophy','Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.'),('HP:0002286','Fair hair','A lesser degree of hair pigmentation than would otherwise be expected.'),('HP:0002287','Progressive alopecia','Progressive loss of hair.'),('HP:0002289','Alopecia universalis','Loss of all hair on the entire body.'),('HP:0002290','Poliosis','Circumscribed depigmentation of the hair of the head or the eyelashes.'),('HP:0002292','Frontal balding','Absence of hair in the anterior midline and/or parietal areas.'),('HP:0002293','Alopecia of scalp',''),('HP:0002296','Progressive hypotrichosis','Progressively reduced or lacking hair growth.'),('HP:0002297','Red hair',''),('HP:0002298','Absent hair',''),('HP:0002299','Brittle hair','Fragile, easily breakable hair, i.e., with reduced tensile strength.'),('HP:0002300','Mutism',''),('HP:0002301','Hemiplegia','Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.'),('HP:0002304','Akinesia','Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.'),('HP:0002305','Athetosis','A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.'),('HP:0002307','Drooling','Habitual flow of saliva out of the mouth.'),('HP:0002308','Arnold-Chiari malformation','Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.'),('HP:0002310','Orofacial dyskinesia',''),('HP:0002311','Incoordination',''),('HP:0002312','Clumsiness','Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.'),('HP:0002313','Spastic paraparesis',''),('HP:0002314','Degeneration of the lateral corticospinal tracts','Deterioration of the tissues of the lateral corticospinal tracts.'),('HP:0002315','Headache','Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.'),('HP:0002317','Unsteady gait',''),('HP:0002318','Cervical myelopathy',''),('HP:0002321','Vertigo','An abnormal sensation of spinning while the body is actually stationary.'),('HP:0002322','Resting tremor','A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.'),('HP:0002323','Anencephaly',''),('HP:0002324','Hydranencephaly','A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.'),('HP:0002326','Transient ischemic attack',''),('HP:0002329','Drowsiness','Excessive daytime sleepiness.'),('HP:0002330','Paroxysmal drowsiness','Attacks of disabling daytime drowsiness and low alertness.'),('HP:0002331','Recurrent paroxysmal headache','Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.'),('HP:0002332','Lack of peer relationships',''),('HP:0002333','Motor deterioration','Loss of previously present motor (i.e., movement) abilities.'),('HP:0002334','Abnormality of the cerebellar vermis','An anomaly of the vermis of cerebellum.'),('HP:0002335','Agenesis of cerebellar vermis','Congenital absence of the vermis of cerebellum.'),('HP:0002339','Abnormal caudate nucleus morphology','Any structural abnormality of the caudate nucleus.'),('HP:0002340','Caudate atrophy',''),('HP:0002341','Cervical cord compression','Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.'),('HP:0002342','Intellectual disability, moderate','Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.'),('HP:0002343','Normal pressure hydrocephalus','A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.'),('HP:0002344','Progressive neurologic deterioration',''),('HP:0002345','Action tremor','A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.'),('HP:0002346','Head tremor','An unintentional, oscillating to-and-fro muscle movement affecting head movement.'),('HP:0002349','Focal aware seizure','A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.'),('HP:0002350','Cerebellar cyst',''),('HP:0002352','Leukoencephalopathy','This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.'),('HP:0002353','EEG abnormality','Abnormality observed by electroencephalogram (EEG), which is used to record of the brain`s spontaneous electrical activity from multiple electrodes placed on the scalp.'),('HP:0002354','Memory impairment','An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.'),('HP:0002355','Difficulty walking','Reduced ability to walk (ambulate).'),('HP:0002356','Writer`s cramp','A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.'),('HP:0002357','Dysphasia',''),('HP:0002359','Frequent falls',''),('HP:0002360','Sleep disturbance','An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.'),('HP:0002361','Psychomotor deterioration','Loss of previously present mental and motor abilities.'),('HP:0002362','Shuffling gait','A type of gait (walking) characterized by by dragging one`s feet along or without lifting the feet fully from the ground.'),('HP:0002363','Abnormality of brainstem morphology','An anomaly of the brainstem.'),('HP:0002365','Hypoplasia of the brainstem','Underdevelopment of the brainstem.'),('HP:0002366','Abnormal lower motor neuron morphology','Any structural anomaly of the lower motor neuron.'),('HP:0002367','Visual hallucinations',''),('HP:0002370','Poor coordination',''),('HP:0002371','Loss of speech',''),('HP:0002372','Normal interictal EEG','Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.'),('HP:0002373','Febrile seizure (within the age range of 3 months to 6 years)','A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.'),('HP:0002374','Diminished movement',''),('HP:0002375','Hypokinesia','Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.'),('HP:0002376','Developmental regression','Loss of developmental skills, as manifested by loss of developmental milestones.'),('HP:0002377','obsolete Paraganglioma-related cranial nerve palsy',''),('HP:0002378','Hand tremor','An unintentional, oscillating to-and-fro muscle movement affecting the hand.'),('HP:0002380','Fasciculations','Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.'),('HP:0002381','Aphasia','An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.'),('HP:0002383','Encephalitis',''),('HP:0002384','Focal impaired awareness seizure','Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person`s awareness of themselves or their surroundings at any point during the seizure.'),('HP:0002385','Paraparesis','Weakness or partial paralysis in the lower limbs.'),('HP:0002389','Cavum septum pellucidum','If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.'),('HP:0002390','Spinal arteriovenous malformation',''),('HP:0002392','EEG with polyspike wave complexes','The presence of complexes of repetitive spikes and waves in EEG.'),('HP:0002395','Lower limb hyperreflexia',''),('HP:0002396','Cogwheel rigidity','A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).'),('HP:0002398','Degeneration of anterior horn cells',''),('HP:0002401','Stroke-like episode','No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.'),('HP:0002403','Positive Romberg sign','The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.'),('HP:0002404','Thickened superior cerebellar peduncle','Increased width of the superior cerebellar peduncle.'),('HP:0002406','Limb dysmetria','A type of dysmetria involving the limbs.'),('HP:0002408','Cerebral arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.'),('HP:0002410','Aqueductal stenosis','Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.'),('HP:0002411','Myokymia','Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.'),('HP:0002414','Spina bifida','Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.'),('HP:0002415','Leukodystrophy','Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.'),('HP:0002416','Subependymal cysts','Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.'),('HP:0002418','Abnormality of midbrain morphology','An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.'),('HP:0002419','Molar tooth sign on MRI','An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.'),('HP:0002421','Poor head control','Difficulty to maintain correct position of the head while standing or sitting.'),('HP:0002423','Long-tract signs',''),('HP:0002425','Anarthria','A defect in the motor ability that enables speech.'),('HP:0002427','Motor aphasia','Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.'),('HP:0002435','Meningocele','Protrusion of the meninges through a defect of the vertebral column.'),('HP:0002436','Occipital meningocele','A herniation of meninges through a congenital bone defect in the skull in the occipital region.'),('HP:0002438','Cerebellar malformation',''),('HP:0002439','Frontolimbic dementia',''),('HP:0002442','Dyscalculia','A specific learning disability involving mathematics and arithmetic.'),('HP:0002444','Hypothalamic hamartoma','The presence of a hamartoma of the hypothalamus.'),('HP:0002445','Tetraplegia','Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.'),('HP:0002446','Astrocytosis','Proliferation of astrocytes in the area of a lesion of the central nervous system.'),('HP:0002448','Progressive encephalopathy',''),('HP:0002450','Abnormal motor neuron morphology','Any structural anomaly that affects the motor neuron.'),('HP:0002451','Limb dystonia','A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.'),('HP:0002453','Abnormal globus pallidus morphology','An abnormality of the globus pallidus.'),('HP:0002454','Eye of the tiger anomaly of globus pallidus','The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.'),('HP:0002457','Abnormal head movements',''),('HP:0002459','obsolete Dysautonomia',''),('HP:0002460','Distal muscle weakness','Reduced strength of the musculature of the distal extremities.'),('HP:0002461','Dense calcifications in the cerebellar dentate nucleus',''),('HP:0002463','Language impairment','Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.'),('HP:0002464','Spastic dysarthria','A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.'),('HP:0002465','Poor speech',''),('HP:0002470','Nonprogressive cerebellar ataxia',''),('HP:0002472','Small cerebral cortex','Reduced size of the cerebral cortex.'),('HP:0002474','Expressive language delay','A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0002475','Myelomeningocele','Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.'),('HP:0002476','Primitive reflex','The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.'),('HP:0002478','Progressive spastic quadriplegia',''),('HP:0002480','Hepatic encephalopathy','Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.'),('HP:0002483','Bulbar signs',''),('HP:0002486','Myotonia','An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.'),('HP:0002487','Hyperkinetic movements','Motor hyperactivity with excessive movement of muscles of the body as a whole.'),('HP:0002488','Acute leukemia','A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).'),('HP:0002490','Increased CSF lactate','Increased concentration of lactate in the cerebrospinal fluid.'),('HP:0002491','Spasticity of facial muscles','Spasticity of one or more muscles innervated by the facial nerve.'),('HP:0002492','Morphological abnormality of the corticospinal tract','Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.'),('HP:0002493','Upper motor neuron dysfunction','A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.'),('HP:0002494','Abnormal rapid eye movement sleep','Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.'),('HP:0002495','Impaired vibratory sensation','A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.'),('HP:0002497','Spastic ataxia',''),('HP:0002500','Abnormality of the cerebral white matter','An abnormality of the cerebral white matter.'),('HP:0002501','Spasticity of pharyngeal muscles',''),('HP:0002503','Spinocerebellar tract degeneration',''),('HP:0002504','Calcification of the small brain vessels','Deposition of calcium salts within small blood vessels of the brain.'),('HP:0002505','Progressive inability to walk',''),('HP:0002506','Diffuse cerebral atrophy','Diffuse unlocalised atrophy affecting the cerebrum.'),('HP:0002507','Semilobar holoprosencephaly','A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.'),('HP:0002508','Brainstem dysplasia','A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.'),('HP:0002509','Limb hypertonia',''),('HP:0002510','Spastic tetraplegia','Spastic paralysis affecting all four limbs.'),('HP:0002511','Alzheimer disease','A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.'),('HP:0002512','Brain stem compression',''),('HP:0002514','Cerebral calcification','The presence of calcium deposition within brain structures.'),('HP:0002515','Waddling gait','Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.'),('HP:0002516','Increased intracranial pressure','An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.'),('HP:0002518','Abnormality of the periventricular white matter',''),('HP:0002519','Hypnagogic hallucinations',''),('HP:0002521','Hypsarrhythmia','Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).'),('HP:0002522','Areflexia of lower limbs','Inability to elicit tendon reflexes in the lower limbs.'),('HP:0002524','Cataplexy','A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.'),('HP:0002526','Deficit in nonword repetition','Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.'),('HP:0002527','Falls',''),('HP:0002528','Granulovacuolar degeneration','Electron-dense granules within double membrane-bound cytoplasmic vacuoles.'),('HP:0002529','Neuronal loss in central nervous system',''),('HP:0002530','Axial dystonia','A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.'),('HP:0002533','Abnormal posturing','Involuntary flexion or extension of the arms and legs.'),('HP:0002536','Abnormal cortical gyration','An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.'),('HP:0002538','Abnormality of the cerebral cortex','An abnormality of the cerebral cortex.'),('HP:0002539','Cortical dysplasia','The presence of developmental dysplasia of the cerebral cortex.'),('HP:0002540','Inability to walk','Incapability to ambulate.'),('HP:0002542','Olivopontocerebellar atrophy','Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.'),('HP:0002544','Retrocollis','A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.'),('HP:0002545','Patchy demyelination of subcortical white matter','Patchy loss of myelin from nerve fibers in the central nervous system.'),('HP:0002546','Incomprehensible speech',''),('HP:0002548','Parkinsonism with favorable response to dopaminergic medication','Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.'),('HP:0002549','Deficit in phonologic short-term memory',''),('HP:0002550','Absent facial hair','Absence of facial hair.'),('HP:0002552','Trichodysplasia','Developmental dysplasia of the hair.'),('HP:0002553','Highly arched eyebrow','Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.'),('HP:0002555','Absent pubic hair','Absence of pubic hair.'),('HP:0002557','Hypoplastic nipples','Underdevelopment of the nipple.'),('HP:0002558','Supernumerary nipple','Presence of more than two nipples.'),('HP:0002561','Absent nipple','Congenital failure to develop, and absence of, the nipple.'),('HP:0002562','Low-set nipples','Placement of the nipples at a lower than normal location.'),('HP:0002563','Constrictive pericarditis','Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.'),('HP:0002564','obsolete Malformation of the heart and great vessels',''),('HP:0002566','Intestinal malrotation','An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.'),('HP:0002570','Steatorrhea','Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.'),('HP:0002571','Achalasia','A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.'),('HP:0002572','Episodic vomiting','Paroxysmal, recurrent episodes of vomiting.'),('HP:0002573','Hematochezia','The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.'),('HP:0002574','Episodic abdominal pain','An intermittent form of abdominal pain.'),('HP:0002575','Tracheoesophageal fistula','An abnormal connection (fistula) between the esophagus and the trachea.'),('HP:0002576','Intussusception','An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.'),('HP:0002577','Abnormality of the stomach','An abnormality of the stomach.'),('HP:0002578','Gastroparesis','Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.'),('HP:0002579','Gastrointestinal dysmotility','Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.'),('HP:0002580','Volvulus','Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.'),('HP:0002582','Chronic atrophic gastritis','A form of chronic gastritis associated with atrophic gastric mucous membrane.'),('HP:0002583','Colitis','Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.'),('HP:0002584','Intestinal bleeding','Bleeding from the intestines.'),('HP:0002585','Abnormality of the peritoneum','An abnormality of the peritoneum.'),('HP:0002586','Peritonitis','Inflammation of the peritoneum.'),('HP:0002587','Projectile vomiting','Vomiting that ejects the gastric contents with great force.'),('HP:0002588','Duodenal ulcer','An erosion of the mucous membrane in a portion of the duodenum.'),('HP:0002589','Gastrointestinal atresia',''),('HP:0002590','Paralytic ileus',''),('HP:0002591','Polyphagia','A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.'),('HP:0002592','Gastric ulcer','An ulcer, that is, an erosion of an area of the gastric mucous membrane.'),('HP:0002593','Intestinal lymphangiectasia','Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.'),('HP:0002594','Pancreatic hypoplasia','Hypoplasia of the pancreas.'),('HP:0002595','Ileus','Acute obstruction of the intestines preventing passage of the contents of the intestines.'),('HP:0002597','Abnormality of the vasculature','An abnormality of the vasculature.'),('HP:0002599','Head titubation','A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.'),('HP:0002600','Hyporeflexia of lower limbs','Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.'),('HP:0002601','Paresis of extensor muscles of the big toe',''),('HP:0002604','Gastrointestinal telangiectasia','Telangiectasia affecting the gastrointestinal tract.'),('HP:0002605','Hepatic necrosis','The presence of cell death (necrosis) affecting the liver.'),('HP:0002607','Bowel incontinence','Involuntary fecal soiling in adults and children who have usually already been toilet trained.'),('HP:0002608','Celiac disease','Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.'),('HP:0002611','Cholestatic liver disease',''),('HP:0002612','Congenital hepatic fibrosis','The presence of fibrosis of that part of the liver with congenital onset.'),('HP:0002613','Biliary cirrhosis','Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.'),('HP:0002614','Hepatic periportal necrosis','A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.'),('HP:0002615','Hypotension','Low Blood Pressure, vascular hypotension.'),('HP:0002616','Aortic root aneurysm','An abnormal localized widening (dilatation) of the aortic root.'),('HP:0002617','Dilatation','Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.'),('HP:0002619','Varicose veins','Enlarged and tortuous veins.'),('HP:0002621','Atherosclerosis','A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.'),('HP:0002622','obsolete Dissecting aortic dilatation',''),('HP:0002623','Overriding aorta','An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.'),('HP:0002624','Abnormal venous morphology','An anomaly of vein.'),('HP:0002625','Deep venous thrombosis','Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.'),('HP:0002626','Venous varicosities of celiac and mesenteric vessels','Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.'),('HP:0002627','Right aortic arch with mirror image branching','The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.'),('HP:0002629','Gastrointestinal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.'),('HP:0002630','Fat malabsorption','Abnormality of the absorption of fat from the gastrointestinal tract.'),('HP:0002631','obsolete Dilatation of ascending aorta',''),('HP:0002632','Low-to-normal blood pressure',''),('HP:0002633','Vasculitis','Inflammation of blood vessel.'),('HP:0002634','Arteriosclerosis','Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.'),('HP:0002635','Type IV atherosclerotic lesion','In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.'),('HP:0002636','Dilatation of an abdominal artery','Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.'),('HP:0002637','Cerebral ischemia',''),('HP:0002638','Superficial thrombophlebitis','Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).'),('HP:0002639','Budd-Chiari syndrome','Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.'),('HP:0002640','Hypertension associated with pheochromocytoma','A type of hypertension associated with pheochromocytoma.'),('HP:0002641','Peripheral thrombosis',''),('HP:0002642','Arteriovenous fistulas of celiac and mesenteric vessels',''),('HP:0002643','Neonatal respiratory distress','Respiratory difficulty as newborn.'),('HP:0002644','Abnormality of pelvic girdle bone morphology','An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.'),('HP:0002645','Wormian bones','The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.'),('HP:0002647','Aortic dissection','Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.'),('HP:0002648','Abnormality of calvarial morphology','The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.'),('HP:0002650','Scoliosis','The presence of an abnormal lateral curvature of the spine.'),('HP:0002651','Spondyloepimetaphyseal dysplasia',''),('HP:0002652','Skeletal dysplasia','A general term describing features characterized by abnormal development of bones and connective tissues.'),('HP:0002653','Bone pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.'),('HP:0002654','Multiple epiphyseal dysplasia',''),('HP:0002655','Spondyloepiphyseal dysplasia','A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).'),('HP:0002656','Epiphyseal dysplasia',''),('HP:0002657','Spondylometaphyseal dysplasia',''),('HP:0002659','Increased susceptibility to fractures','An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.'),('HP:0002661','Painless fractures due to injury','An increased tendency to fractures following trauma, with fractures occurring without pain.'),('HP:0002663','Delayed epiphyseal ossification',''),('HP:0002664','Neoplasm','An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).'),('HP:0002665','Lymphoma','A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.'),('HP:0002666','Pheochromocytoma','Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.'),('HP:0002667','Nephroblastoma','The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.'),('HP:0002668','Paraganglioma','A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.'),('HP:0002669','Osteosarcoma','A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.'),('HP:0002671','Basal cell carcinoma','The presence of a basal cell carcinoma of the skin.'),('HP:0002672','Gastrointestinal carcinoma',''),('HP:0002673','Coxa valga','Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).'),('HP:0002676','Cloverleaf skull','Trilobar skull configuration when viewed from the front or behind.'),('HP:0002677','Small foramen magnum','An abnormal narrowing of the foramen magnum.'),('HP:0002678','Skull asymmetry',''),('HP:0002679','Abnormality of the sella turcica','Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.'),('HP:0002680','J-shaped sella turcica','A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.'),('HP:0002681','Deformed sella turcica',''),('HP:0002682','Broad skull','Increased width of the skull.'),('HP:0002683','Abnormality of the calvaria','Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.'),('HP:0002684','Thickened calvaria','The presence of an abnormally thick calvaria.'),('HP:0002686','Prenatal maternal abnormality',''),('HP:0002687','Abnormality of frontal sinus','An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.'),('HP:0002688','Absent frontal sinuses','Aplasia of frontal sinus.'),('HP:0002689','Absent paranasal sinuses','Aplasia of the paranasal sinuses.'),('HP:0002690','Large sella turcica','An abnormal enlargement of the sella turcica.'),('HP:0002691','Platybasia','A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.'),('HP:0002692','Hypoplastic facial bones',''),('HP:0002693','Abnormality of the skull base','An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.'),('HP:0002694','Sclerosis of skull base','Increased bone density of the skull base without significant changes in bony contour.'),('HP:0002695','Symmetrical, oval parietal bone defects',''),('HP:0002696','Abnormal parietal bone morphology','Any abnormality of the parietal bone of the skull.'),('HP:0002697','Parietal foramina','The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.'),('HP:0002699','Abnormality of the foramen magnum','Any abnormality of the foramen magnum.'),('HP:0002700','Large foramen magnum','An abnormal increase in the size of the foramen magnum.'),('HP:0002703','Abnormality of skull ossification','An abnormality of the process of ossification of the skull.'),('HP:0002705','High, narrow palate','The presence of a high and narrow palate.'),('HP:0002707','Palate telangiectasia','The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.'),('HP:0002708','Prominent median palatal raphe','Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.'),('HP:0002710','Commissural lip pit','A depression located at an oral commissure.'),('HP:0002711','Exaggerated median tongue furrow','Increased depth of the median tongue furrow.'),('HP:0002714','Downturned corners of mouth','A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.'),('HP:0002715','Abnormality of the immune system','An abnormality of the immune system.'),('HP:0002716','Lymphadenopathy','Enlargment (swelling) of a lymph node.'),('HP:0002717','Adrenal overactivity',''),('HP:0002718','Recurrent bacterial infections','Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.'),('HP:0002719','Recurrent infections','Increased susceptibility to infections.'),('HP:0002720','Decreased circulating IgA level','Decreased levels of immunoglobulin A (IgA).'),('HP:0002721','Immunodeficiency','Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.'),('HP:0002722','Recurrent abscess formation','An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.'),('HP:0002723','Absence of bactericidal oxidative respiratory burst in phagocytes','An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.'),('HP:0002724','Recurrent Aspergillus infections','An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.'),('HP:0002725','Systemic lupus erythematosus','A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.'),('HP:0002726','Recurrent Staphylococcus aureus infections','Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.'),('HP:0002728','Chronic mucocutaneous candidiasis','Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.'),('HP:0002729','Follicular hyperplasia','Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.'),('HP:0002730','Chronic noninfectious lymphadenopathy','A chronic form of lymphadenopathy that is not related to infection.'),('HP:0002731','Decreased lymphocyte apoptosis','A reduction in the rate of apoptosis in lymphocytes.'),('HP:0002732','Lymph node hypoplasia','Underdevelopment of the lymph nodes.'),('HP:0002733','Abnormality of the lymph nodes','A lymph node abnormality.'),('HP:0002737','Thick skull base',''),('HP:0002738','Hypoplastic frontal sinuses','Underdevelopment of frontal sinus.'),('HP:0002740','Recurrent E. coli infections','Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.'),('HP:0002741','Recurrent Serratia marcescens infections','Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.'),('HP:0002742','Recurrent Klebsiella infections','Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.'),('HP:0002743','Recurrent enteroviral infections','Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.'),('HP:0002744','Bilateral cleft lip and palate','Cleft lip and cleft palate affecting both sides of the face.'),('HP:0002745','Oral leukoplakia','A thickened white patch on the oral mucosa that cannot be rubbed off.'),('HP:0002747','Respiratory insufficiency due to muscle weakness',''),('HP:0002748','Rickets','Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.'),('HP:0002749','Osteomalacia','Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.'),('HP:0002750','Delayed skeletal maturation','A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.'),('HP:0002751','Kyphoscoliosis','An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.'),('HP:0002752','Sparse bone trabeculae',''),('HP:0002753','Thin bony cortex','Abnormal thinning of the cortical region of bones.'),('HP:0002754','Osteomyelitis','Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.'),('HP:0002755','obsolete Osteomyelitis due to immunodeficiency',''),('HP:0002756','Pathologic fracture','A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.'),('HP:0002757','Recurrent fractures','The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).'),('HP:0002758','Osteoarthritis','Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.'),('HP:0002761','Generalized joint laxity','Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.'),('HP:0002762','Multiple exostoses','Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.'),('HP:0002763','Abnormal cartilage morphology','Any morphological abnormality of cartilage.'),('HP:0002764','Stippled chondral calcification',''),('HP:0002766','Relatively short spine',''),('HP:0002773','obsolete Small vertebral bodies',''),('HP:0002777','Tracheal stenosis',''),('HP:0002778','Abnormal trachea morphology','A structural anomaly of the trachea.'),('HP:0002779','Tracheomalacia',''),('HP:0002780','Bronchomalacia','Weakness or softness of the cartilage in the walls of the bronchial tubes.'),('HP:0002781','Upper airway obstruction','Increased resistance to the passage of air in the upper airway.'),('HP:0002783','Recurrent lower respiratory tract infections','An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.'),('HP:0002786','Tracheobronchomalacia','Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.'),('HP:0002787','Tracheal calcification','Calcification (abnormal deposits of calcium) in the tracheal tissues.'),('HP:0002788','Recurrent upper respiratory tract infections','An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).'),('HP:0002789','Tachypnea','Very rapid breathing.'),('HP:0002790','Neonatal breathing dysregulation',''),('HP:0002791','Hypoventilation','A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).'),('HP:0002792','Reduced vital capacity','An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.'),('HP:0002793','Abnormal pattern of respiration','An anomaly of the rhythm or depth of breathing.'),('HP:0002795','Functional respiratory abnormality',''),('HP:0002797','Osteolysis','Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.'),('HP:0002803','Congenital contracture','One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.'),('HP:0002804','Arthrogryposis multiplex congenita','Multiple congenital contractures in different body areas.'),('HP:0002805','Accelerated bone age after puberty',''),('HP:0002808','Kyphosis','Exaggerated anterior convexity of the thoracic vertebral column.'),('HP:0002810','Dumbbell-shaped metaphyses',''),('HP:0002812','Coxa vara','Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.'),('HP:0002813','Abnormality of limb bone morphology','Any abnormality of bones of the arms or legs.'),('HP:0002814','Abnormality of the lower limb','An abnormality of the leg.'),('HP:0002815','Abnormality of the knee','An abnormality of the knee joint or surrounding structures.'),('HP:0002816','Genu recurvatum','An abnormally increased extension of the knee joint, so that the knee can bend backwards.'),('HP:0002817','Abnormality of the upper limb','An abnormality of the arm.'),('HP:0002818','Abnormality of the radius','An abnormality of the radius.'),('HP:0002821','Neuropathic arthropathy',''),('HP:0002822','Hyperplasia of the femoral trochanters',''),('HP:0002823','Abnormality of femur morphology','Any anomaly of the structure of the femur.'),('HP:0002825','Caudal appendage','The presence of a tail-like skin appendage located adjacent to the sacrum.'),('HP:0002826','Halberd-shaped pelvis','An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).'),('HP:0002827','Hip dislocation','Displacement of the femur from its normal location in the hip joint.'),('HP:0002828','Multiple joint contractures',''),('HP:0002829','Arthralgia','Joint pain.'),('HP:0002831','Long coccyx',''),('HP:0002832','Calcific stippling','An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).'),('HP:0002833','Cystic angiomatosis of bone','Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.'),('HP:0002834','Flared femoral metaphysis',''),('HP:0002835','Aspiration','Inspiration of a foreign object into the airway.'),('HP:0002836','Bladder exstrophy','Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.'),('HP:0002837','Recurrent bronchitis','An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.'),('HP:0002839','Urinary bladder sphincter dysfunction','Abnormal function of a sphincter of the urinary bladder.'),('HP:0002840','Lymphadenitis','Inflammation of a lymph node.'),('HP:0002841','Recurrent fungal infections','Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.'),('HP:0002842','Recurrent Burkholderia cepacia infections','Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.'),('HP:0002843','Abnormal T cell morphology','An abnormality of T cells.'),('HP:0002845','obsolete Increased proportion of peripheral CD3+ T cells',''),('HP:0002846','Abnormal B cell morphology','A structural abnormality of B cells.'),('HP:0002847','Impaired memory B cell generation','Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.'),('HP:0002848','Decreased specific anti-polysaccharide antibody level','The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.'),('HP:0002849','Absence of lymph node germinal center','Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.'),('HP:0002850','Decreased circulating total IgM','An abnormally decreased level of immunoglobulin M (IgM) in blood.'),('HP:0002851','Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells','An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.'),('HP:0002853','Increased proportion of HLA DR+ T cells','An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.'),('HP:0002857','Genu valgum','The legs angle inward, such that the knees are close together and the ankles far apart.'),('HP:0002858','Meningioma','The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.'),('HP:0002859','Rhabdomyosarcoma',''),('HP:0002860','Squamous cell carcinoma','The presence of squamous cell carcinoma of the skin.'),('HP:0002861','Melanoma','The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).'),('HP:0002862','Bladder carcinoma','The presence of a carcinoma of the urinary bladder.'),('HP:0002863','Myelodysplasia','Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.'),('HP:0002864','Paraganglioma of head and neck',''),('HP:0002865','Medullary thyroid carcinoma','The presence of a medullary carcinoma of the thyroid gland.'),('HP:0002866','Hypoplastic iliac wing','Underdevelopment of the ilium ala.'),('HP:0002867','Abnormality of the ilium','An abnormality of the ilium, the largest and uppermost bone of the pelvis.'),('HP:0002868','Narrow iliac wings','Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).'),('HP:0002869','Flared iliac wings','Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.'),('HP:0002870','Obstructive sleep apnea','A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.'),('HP:0002871','Central apnea','Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.'),('HP:0002872','Apneic episodes precipitated by illness, fatigue, stress','Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.'),('HP:0002875','Exertional dyspnea',''),('HP:0002876','Episodic tachypnea','Episodes of very rapid breathing.'),('HP:0002877','Nocturnal hypoventilation',''),('HP:0002878','Respiratory failure','A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.'),('HP:0002879','Anisospondyly','Abnormally increased variability of the size of the vertebral bodies.'),('HP:0002880','obsolete Respiratory difficulties',''),('HP:0002882','Sudden episodic apnea','Recurrent bouts of sudden, severe apnea that may be life-threatening.'),('HP:0002883','Hyperventilation','Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.'),('HP:0002884','Hepatoblastoma','A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.'),('HP:0002885','Medulloblastoma','A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.'),('HP:0002886','Vagal paraganglioma','A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.'),('HP:0002888','Ependymoma','The presence of an ependymoma of the central nervous system.'),('HP:0002890','Thyroid carcinoma','The presence of a carcinoma of the thyroid gland.'),('HP:0002891','Uterine leiomyosarcoma','The presence of a leiomyosarcoma of the uterus.'),('HP:0002893','Pituitary adenoma','A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.'),('HP:0002894','Neoplasm of the pancreas','A tumor (abnormal growth of tissue) of the pancreas.'),('HP:0002895','Papillary thyroid carcinoma','The presence of a papillary adenocarcinoma of the thyroid gland.'),('HP:0002896','Neoplasm of the liver','A tumor (abnormal growth of tissue) of the liver.'),('HP:0002897','Parathyroid adenoma','A benign tumor of the parathyroid gland that can cause hyperparathyroidism.'),('HP:0002898','Embryonal neoplasm',''),('HP:0002900','Hypokalemia','An abnormally decreased potassium concentration in the blood.'),('HP:0002901','Hypocalcemia','An abnormally decreased calcium concentration in the blood.'),('HP:0002902','Hyponatremia','An abnormally decreased sodium concentration in the blood.'),('HP:0002904','Hyperbilirubinemia','An increased amount of bilirubin in the blood.'),('HP:0002905','Hyperphosphatemia','An abnormally increased phosphate concentration in the blood.'),('HP:0002907','Microscopic hematuria','Microscopic hematuria detected by dipstick or microscopic examination of the urine.'),('HP:0002908','Conjugated hyperbilirubinemia',''),('HP:0002909','Generalized aminoaciduria','An increased concentration of all types of amino acid in the urine.'),('HP:0002910','Elevated hepatic transaminase','Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.'),('HP:0002912','Methylmalonic acidemia','Increased concentration of methylmalonic acid in the blood.'),('HP:0002913','Myoglobinuria','Presence of myoglobin in the urine.'),('HP:0002914','Hyperchloriduria','An increased concentration of chloride in the urine.'),('HP:0002916','Abnormality of chromosome segregation','An abnormality of chromosome segregation.'),('HP:0002917','Hypomagnesemia','An abnormally decreased magnesium concentration in the blood.'),('HP:0002918','Hypermagnesemia','An abnormally increased magnesium concentration in the blood.'),('HP:0002919','Ketonuria','High levels of ketone bodies in the urine.'),('HP:0002920','Decreased circulating ACTH level','An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.'),('HP:0002921','Abnormality of the cerebrospinal fluid','An abnormality of the cerebrospinal fluid (CSF).'),('HP:0002922','Increased CSF protein','Increased concentration of protein in the cerebrospinal fluid.'),('HP:0002923','Rheumatoid factor positive','The presence in the serum of an autoantibody directed against the Fc portion of IgG.'),('HP:0002924','obsolete Decreased circulating aldosterone level',''),('HP:0002925','Increased thyroid-stimulating hormone level','Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.'),('HP:0002926','Abnormality of thyroid physiology','An abnormal functionality of the thyroid gland.'),('HP:0002927','Histidinuria','An increased concentration of histidine in the urine.'),('HP:0002928','Decreased activity of the pyruvate dehydrogenase complex',''),('HP:0002929','Leydig cell insensitivity to gonadotropin',''),('HP:0002930','Impaired sensitivity to thyroid hormone','Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.'),('HP:0002932','Aldehyde oxidase deficiency','A reduction in aldehyde oxidase level.'),('HP:0002933','Ventral hernia','Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.'),('HP:0002936','Distal sensory impairment','An abnormal reduction in sensation in the distal portions of the extremities.'),('HP:0002937','Hemivertebrae','Absence of one half of the vertebral body.'),('HP:0002938','Lumbar hyperlordosis','An abnormal accentuation of the inward curvature of the spine in the lumbar region.'),('HP:0002942','Thoracic kyphosis','Over curvature of the thoracic region, leading to a round back or if sever to a hump.'),('HP:0002943','Thoracic scoliosis',''),('HP:0002944','Thoracolumbar scoliosis',''),('HP:0002945','Intervertebral space narrowing','Decreased height of the intervertebral disk.'),('HP:0002946','Supernumerary vertebrae',''),('HP:0002947','Cervical kyphosis','Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.'),('HP:0002948','Vertebral fusion','A developmental defect leading to the union of two adjacent vertebrae.'),('HP:0002949','Fused cervical vertebrae','A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.'),('HP:0002951','Partial absence of cerebellar vermis','Congenital absence of a part of the vermis of cerebellum.'),('HP:0002953','Vertebral compression fractures',''),('HP:0002955','Granulomatosis','A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.'),('HP:0002958','Immune dysregulation','Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.'),('HP:0002959','Impaired Ig class switch recombination','An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.'),('HP:0002960','Autoimmunity','The occurrence of an immune reaction against the organism`s own cells or tissues.'),('HP:0002961','Dysgammaglobulinemia','Selective deficiency of one or more, but not all, classes of immunoglobulins.'),('HP:0002963','Abnormal delayed hypersensitivity skin test','Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.'),('HP:0002965','Cutaneous anergy','Inability to react to a delayed hypersensitivity skin test.'),('HP:0002967','Cubitus valgus','Abnormal positioning in which the elbows are turned out.'),('HP:0002970','Genu varum','A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.'),('HP:0002971','Absent microvilli on the surface of peripheral blood lymphocytes','Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.'),('HP:0002972','Reduced delayed hypersensitivity','Decreased ability to react to a delayed hypersensitivity skin test.'),('HP:0002973','Abnormality of the forearm','An abnormality of the lower arm.'),('HP:0002974','Radioulnar synostosis','An abnormal osseous union (fusion) between the radius and the ulna.'),('HP:0002977','Aplasia/Hypoplasia involving the central nervous system','Absence or underdevelopment of tissue in the central nervous system.'),('HP:0002979','Bowing of the legs','A bending or abnormal curvature affecting a long bone of the leg.'),('HP:0002980','Femoral bowing','Bowing (abnormal curvature) of the femur.'),('HP:0002981','Abnormality of the calf','An abnormality of the calf, i.e. of the posterior part of the lower leg.'),('HP:0002982','Tibial bowing','A bending or abnormal curvature of the tibia.'),('HP:0002983','Micromelia','The presence of abnormally small extremities.'),('HP:0002984','Hypoplasia of the radius','Underdevelopment of the radius.'),('HP:0002986','Radial bowing','A bending or abnormal curvature of the radius.'),('HP:0002987','Elbow flexion contracture','A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.'),('HP:0002990','Fibular aplasia','Absence of the fibula.'),('HP:0002991','Abnormality of fibula morphology','An anomaly of the calf bone (fibula), one of the two bones of the calf.'),('HP:0002992','Abnormality of tibia morphology','Abnormality of the tibia (shinbone).'),('HP:0002996','Limited elbow movement',''),('HP:0002997','Abnormality of the ulna','An abnormality of the ulna bone of the forearm.'),('HP:0002999','Patellar dislocation','The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.'),('HP:0003001','Glomus jugular tumor',''),('HP:0003002','Breast carcinoma','The presence of a carcinoma of the breast.'),('HP:0003003','Colon cancer',''),('HP:0003005','Ganglioneuroma','A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.'),('HP:0003006','Neuroblastoma','Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.'),('HP:0003009','Enhanced neurotoxicity of vincristine',''),('HP:0003010','Prolonged bleeding time','Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.'),('HP:0003011','Abnormality of the musculature','Abnormality originating in one or more muscles, i.e., of the set of muscles of body.'),('HP:0003013','Bulging epiphyses','A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).'),('HP:0003015','Flared metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.'),('HP:0003016','Metaphyseal widening','Abnormal widening of the metaphyseal regions of long bones.'),('HP:0003019','Abnormality of the wrist','Abnormality of the wrist, the structure connecting the hand and the forearm.'),('HP:0003020','Enlargement of the wrists',''),('HP:0003021','Metaphyseal cupping','Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.'),('HP:0003022','Hypoplasia of the ulna','Underdevelopment of the ulna.'),('HP:0003023','Bowing of limbs due to multiple fractures','Curvature of the shafts of the long bones due to multiple fractures.'),('HP:0003025','Metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphyses.'),('HP:0003026','Short long bone','One or more abnormally short long bone.'),('HP:0003027','Mesomelia','Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.'),('HP:0003028','Abnormality of the ankles',''),('HP:0003029','Enlargement of the ankles',''),('HP:0003031','Ulnar bowing','Bending of the diaphysis (shaft) of the ulna.'),('HP:0003034','Diaphyseal sclerosis','An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0003037','Enlarged joints','Increase in size of one or more joints.'),('HP:0003038','Fibular hypoplasia','Underdevelopment of the fibula.'),('HP:0003040','Arthropathy',''),('HP:0003041','Humeroradial synostosis','An abnormal osseous union (fusion) between the radius and the humerus.'),('HP:0003042','Elbow dislocation','Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.'),('HP:0003043','Abnormality of the shoulder','An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.'),('HP:0003044','Shoulder flexion contracture','Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0003045','Abnormal patella morphology','Abnormality of the patella (knee cap).'),('HP:0003048','Radial head subluxation','Partial dislocation of the head of the radius.'),('HP:0003049','Ulnar deviation of the wrist',''),('HP:0003051','Enlarged metaphyses','Abnormal increase in size of one or more metaphyses.'),('HP:0003053','Epiphyseal deformities of tubular bones',''),('HP:0003057','Tetraamelia','Amelia of all four limbs.'),('HP:0003059','Abnormality of the radioulnar joints',''),('HP:0003063','Abnormality of the humerus','An abnormality of the humerus (i.e., upper arm bone).'),('HP:0003065','Patellar hypoplasia','Underdevelopment of the patella.'),('HP:0003066','Limited knee extension',''),('HP:0003067','Madelung deformity','An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.'),('HP:0003068','Madelung-like forearm deformities',''),('HP:0003070','Elbow ankylosis',''),('HP:0003071','Flattened epiphysis','Abnormal flatness (decreased height) of epiphyses.'),('HP:0003072','Hypercalcemia','An abnormally increased calcium concentration in the blood.'),('HP:0003073','Hypoalbuminemia','Reduction in the concentration of albumin in the blood.'),('HP:0003074','Hyperglycemia','An increased concentration of glucose in the blood.'),('HP:0003075','Hypoproteinemia','A decreased concentration of protein in the blood.'),('HP:0003076','Glycosuria','An increased concentration of glucose in the urine.'),('HP:0003077','Hyperlipidemia','An elevated lipid concentration in the blood.'),('HP:0003079','Defective DNA repair after ultraviolet radiation damage',''),('HP:0003080','Hydroxyprolinuria','An increased concentration of 4-hydroxy-L-proline in the urine.'),('HP:0003081','Increased urinary potassium','An increased concentration of potassium(1+) in the urine.'),('HP:0003083','Dislocated radial head','A dislocation of the head of the radius from its socket in the elbow joint.'),('HP:0003084','Fractures of the long bones','An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna).'),('HP:0003085','Long fibula','Disproportionately long fibulae.'),('HP:0003086','Acromesomelia','Small hands and feet.'),('HP:0003088','Premature osteoarthritis',''),('HP:0003089','Hamstring contractures',''),('HP:0003090','Hypoplasia of the capital femoral epiphysis','Underdevelopment of the proximal epiphysis of the femur.'),('HP:0003091','Trophic limb changes','Trophic changes occurring in a limb.'),('HP:0003093','Limited hip extension','Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.'),('HP:0003095','Septic arthritis',''),('HP:0003097','Short femur','An abnormal shortening of the femur.'),('HP:0003099','Fibular overgrowth','Relatively increased growth of the fibula compared to that of the tibia.'),('HP:0003100','Slender long bone','Reduced diameter of a long bone.'),('HP:0003102','Increased carrying angle','An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.'),('HP:0003103','Abnormal cortical bone morphology','An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.'),('HP:0003105','Protuberances at ends of long bones','The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.'),('HP:0003106','Subperiosteal bone resorption','Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.'),('HP:0003107','Abnormal circulating cholesterol concentration','Any deviation from the normal concentration of cholesterol in the blood circulation.'),('HP:0003108','Hyperglycinuria','An increased concentration of glycine in the urine.'),('HP:0003109','Hyperphosphaturia','An increased excretion of phosphates in the urine.'),('HP:0003110','Abnormality of urine homeostasis','An abnormality of the composition of urine or the levels of its components.'),('HP:0003111','Abnormal blood ion concentration','Abnormality of the homeostasis (concentration) of a monoatomic ion.'),('HP:0003112','Abnormality of serum amino acid level','The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.'),('HP:0003113','Hypochloremia','An abnormally decreased chloride concentration in the blood.'),('HP:0003114','obsolete Abnormal cardiological findings',''),('HP:0003115','Abnormal EKG','Abnormal rhythm of the heart.'),('HP:0003116','Abnormal echocardiogram','An abnormality detectable by sonography of the heart (echocardiography).'),('HP:0003117','Abnormal circulating hormone level','An abnormal concentration of a hormone in the blood.'),('HP:0003118','Increased circulating cortisol level','Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.'),('HP:0003119','Abnormal circulating lipid concentration','An abnormality in the of lipid metabolism.'),('HP:0003121','Limb joint contracture','A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.'),('HP:0003124','Hypercholesterolemia','An increased concentration of cholesterol in the blood.'),('HP:0003125','Reduced factor VIII activity','Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.'),('HP:0003126','Low-molecular-weight proteinuria','Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).'),('HP:0003127','Hypocalciuria','An abnormally decreased calcium concentration in the urine.'),('HP:0003128','Lactic acidosis','An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.'),('HP:0003130','Abnormal peripheral myelination','An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.'),('HP:0003131','Cystinuria','An increased concentration of cystine in the urine.'),('HP:0003133','Abnormality of the spinocerebellar tracts','An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.'),('HP:0003134','Abnormality of peripheral nerve conduction','An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).'),('HP:0003137','Prolinuria','An increased concentration of proline in the urine.'),('HP:0003138','Increased blood urea nitrogen','An increased amount of nitrogen in the form of urea in the blood.'),('HP:0003139','Panhypogammaglobulinemia','A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.'),('HP:0003140','T-wave inversion in the right precordial leads',''),('HP:0003141','Increased LDL cholesterol concentration','An elevated concentration of low-density lipoprotein cholesterol in the blood.'),('HP:0003142','Excessive purine production',''),('HP:0003144','Increased serum serotonin','A increased concentration of serotonin in the blood.'),('HP:0003145','Decreased adenosylcobalamin','Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.'),('HP:0003146','Hypocholesterolemia','An decreased concentration of cholesterol in the blood.'),('HP:0003148','Elevated serum acid phosphatase',''),('HP:0003149','Hyperuricosuria','An abnormally high level of uric acid in the urine.'),('HP:0003150','Glutaric aciduria','An increased concentration of glutaric acid in the urine.'),('HP:0003152','obsolete Increased serum 1,25-dihydroxyvitamin D3',''),('HP:0003153','Cystathioninuria','An elevated urinary concentration of cystathionine.'),('HP:0003154','Increased circulating ACTH level','An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.'),('HP:0003155','Elevated alkaline phosphatase','Abnormally increased serum levels of alkaline phosphatase activity.'),('HP:0003158','Hyposthenuria','An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.'),('HP:0003159','Hyperoxaluria','Increased excretion of oxalates in the urine.'),('HP:0003160','Abnormal isoelectric focusing of serum transferrin','Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.'),('HP:0003161','4-Hydroxyphenylpyruvic aciduria','Increased concentration of pyruvic acid in the urine.'),('HP:0003162','Fasting hypoglycemia',''),('HP:0003163','Elevated urinary delta-aminolevulinic acid','An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.'),('HP:0003164','Hypothalamic gonadotropin-releasing hormone deficiency',''),('HP:0003165','Elevated circulating parathyroid hormone level','An abnormal increased concentration of parathyroid hormone.'),('HP:0003166','Increased urinary taurine','Increased concentration of taurine in the urine.'),('HP:0003167','Carnosinuria','An increased concentration of carnosine in the urine.'),('HP:0003168','Dibasicaminoaciduria',''),('HP:0003170','Abnormality of the acetabulum','An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.'),('HP:0003172','Abnormality of the pubic bone','An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.'),('HP:0003173','Hypoplastic pubic bone','Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.'),('HP:0003174','Abnormality of the ischium','An anomaly of the ischium, which forms the lower and back part of the hip bone.'),('HP:0003175','Hypoplastic ischia','Underdevelopment of the ischium, which forms the lower and back part of the hip bone.'),('HP:0003177','Squared iliac bones','A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.'),('HP:0003179','Protrusio acetabuli','Intrapelvic bulging of the medial acetabular wall.'),('HP:0003180','Flat acetabular roof','Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.'),('HP:0003182','Shallow acetabular fossae',''),('HP:0003183','Wide pubic symphysis','Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.'),('HP:0003184','Decreased hip abduction','Reduced ability to move the femur outward to the side.'),('HP:0003185','Short greater sciatic notch','The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.'),('HP:0003186','Inverted nipples','The presence of nipples that instead of pointing outward are retracted inwards.'),('HP:0003187','Breast hypoplasia','Underdevelopment of the breast.'),('HP:0003189','Long nose','Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.'),('HP:0003191','Cleft ala nasi','The presence of a notch in the margin of the ala nasi.'),('HP:0003193','Allergic rhinitis','It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.'),('HP:0003194','Short nasal bridge',''),('HP:0003196','Short nose','Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.'),('HP:0003198','Myopathy','A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.'),('HP:0003199','Decreased muscle mass',''),('HP:0003200','Ragged-red muscle fibers','An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.'),('HP:0003201','Rhabdomyolysis','Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.'),('HP:0003202','Skeletal muscle atrophy','The presence of skeletal muscular atrophy (which is also known as amyotrophy).'),('HP:0003203','Impaired oxidative burst','In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.'),('HP:0003204','Intracellular accumulation of autofluorescent lipopigment storage material','The intracellular accumulation of autofluorescent storage material.'),('HP:0003205','Curvilinear intracellular accumulation of autofluorescent lipopigment storage material','An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.'),('HP:0003206','Decreased activity of NADPH oxidase',''),('HP:0003207','Arterial calcification','Pathological deposition of calcium salts in one or more arteries.'),('HP:0003208','Fingerprint intracellular accumulation of autofluorescent lipopigment storage material','An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.'),('HP:0003209','Decreased pyruvate carboxylase activity','A decreased rate of pyruvate carboxylase activity.'),('HP:0003210','Decreased methylmalonyl-CoA mutase activity','An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.'),('HP:0003212','Increased circulating IgE level','An abnormally increased overall level of immunoglobulin E in blood.'),('HP:0003213','Deficient excision of UV-induced pyrimidine dimers in DNA',''),('HP:0003214','Prolonged G2 phase of cell cycle',''),('HP:0003215','Dicarboxylic aciduria','An increased concentration of dicarboxylic acid in the urine.'),('HP:0003216','Generalized amyloid deposition','A diffuse form of amyloidosis.'),('HP:0003217','Hyperglutaminemia','An increased concentration of glutamine in the blood.'),('HP:0003218','Oroticaciduria','An increased concentration of orotic acid in the urine.'),('HP:0003219','Ethylmalonic aciduria','An increased concentration of ethylmalonic acid in the urine.'),('HP:0003220','Abnormality of chromosome stability','A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.'),('HP:0003221','Chromosomal breakage induced by crosslinking agents','Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.'),('HP:0003223','Decreased methylcobalamin','Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.'),('HP:0003224','Increased cellular sensitivity to UV light',''),('HP:0003225','Reduced coagulation factor V activity','Decreased activity of coagulation factor V.'),('HP:0003226','Rectilinear intracellular accumulation of autofluorescent lipopigment storage material','An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.'),('HP:0003228','Hypernatremia','An abnormally increased sodium concentration in the blood.'),('HP:0003231','Hypertyrosinemia','An increased concentration of tyrosine in the blood.'),('HP:0003232','Mitochondrial malic enzyme reduced',''),('HP:0003233','Decreased HDL cholesterol concentration','An decreased concentration of high-density lipoprotein cholesterol in the blood.'),('HP:0003234','Decreased plasma carnitine','A decreased concentration of carnitine in the blood.'),('HP:0003235','Hypermethioninemia','An increased concentration of methionine in the blood.'),('HP:0003236','Elevated serum creatine kinase','An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.'),('HP:0003237','Increased circulating IgG level','An abnormally increased level of immunoglobulin G in blood.'),('HP:0003238','Hyperpepsinogenemia I',''),('HP:0003239','Phosphoethanolaminuria','An increased concentration of phosphoethanolamine in the urine.'),('HP:0003240','Increased phosphoribosylpyrophosphate synthetase level','Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.'),('HP:0003241','External genital hypoplasia','Underdevelopment of part or all of the external reproductive organs.'),('HP:0003244','Penile hypospadias','Location of the urethral opening on the inferior aspect of the penis.'),('HP:0003246','Prominent scrotal raphe','Increased size of the ridge of tissue that extends along the midline of the scrotum.'),('HP:0003247','Overgrowth of external genitalia',''),('HP:0003248','Gonadal tissue inappropriate for external genitalia or chromosomal sex',''),('HP:0003249','Genital ulcers',''),('HP:0003250','Aplasia of the vagina','Aplasia of the vagina.'),('HP:0003251','Male infertility',''),('HP:0003252','Anteriorly displaced genitalia',''),('HP:0003254','Abnormality of DNA repair','An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.'),('HP:0003256','Abnormality of the coagulation cascade','An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.'),('HP:0003258','Glyoxalase deficiency',''),('HP:0003259','Elevated serum creatinine','An increased amount of creatinine in the blood.'),('HP:0003260','Hydroxyprolinemia','An increased concentration of hydroxyproline in the blood.'),('HP:0003261','Increased circulating IgA level','An abnormally increased level of immunoglobulin A in blood.'),('HP:0003262','Smooth muscle antibody positivity','The presence in serum of antibodies against smooth muscle.'),('HP:0003264','Deficiency of N-acetylglucosamine-1-phosphotransferase',''),('HP:0003265','Neonatal hyperbilirubinemia','A type of hyperbilirubinemia with neonatal onset.'),('HP:0003267','Reduced orotidine 5-prime phosphate decarboxylase level','An abnormal decrease in orotidine 5`-phosphate decarboxylase level.'),('HP:0003268','Argininuria','A increased concentration of arginine in the urine.'),('HP:0003269','Sudanophilic leukodystrophy',''),('HP:0003270','Abdominal distention','Distention of the abdomen.'),('HP:0003271','Visceromegaly','Abnormal increased size of the viscera of the abdomen.'),('HP:0003272','Abnormality of the hip bone','An abnormality of the hip bone.'),('HP:0003273','Hip contracture',''),('HP:0003274','Hypoplastic acetabulae','Underdeveloped acetabulae.'),('HP:0003275','Narrow pelvis bone','Reduced side to side width of the pelvis.'),('HP:0003276','Pelvic bone exostoses','A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.'),('HP:0003277','Constricted iliac wings',''),('HP:0003278','Square pelvis bone','An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.'),('HP:0003279','Coxa magna','Widening of the femoral head and neck.'),('HP:0003281','Increased serum ferritin','Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.'),('HP:0003282','Low alkaline phosphatase','Abnormally reduced serum levels of alkaline phosphatase.'),('HP:0003286','Cystathioninemia','An increased concentration of cystathionine in the blood.'),('HP:0003287','Abnormality of mitochondrial metabolism','A functional anomaly of mitochondria.'),('HP:0003288','Mitochondrial propionyl-CoA carboxylase defect',''),('HP:0003292','Decreased serum leptin','A decreased concentration of leptin in the blood.'),('HP:0003295','obsolete Impaired FSH and LH secretion',''),('HP:0003296','Hyperthreoninuria','An increased concentration of threonine in the urine.'),('HP:0003297','Hyperlysinuria','An increased concentration of lysine in the urine.'),('HP:0003298','Spina bifida occulta','The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.'),('HP:0003300','Ovoid vertebral bodies','When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.'),('HP:0003301','Irregular vertebral endplates','An irregular surface of the vertebral end plates, which are normally relatively smooth.'),('HP:0003302','Spondylolisthesis','Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.'),('HP:0003304','Spondylolysis','Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.'),('HP:0003305','Block vertebrae','Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).'),('HP:0003306','Spinal rigidity','Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.'),('HP:0003307','Hyperlordosis','Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.'),('HP:0003308','Cervical subluxation','A partial dislocation of one or more intervertebral joints in the cervical vertebral column.'),('HP:0003309','Ovoid thoracolumbar vertebrae',''),('HP:0003310','Abnormality of the odontoid process','Abnormality of the dens of the axis, which is also known as the odontoid process.'),('HP:0003311','Hypoplasia of the odontoid process','Developmental hypoplasia of the dens of the axis.'),('HP:0003312','Abnormal form of the vertebral bodies','Abnormal morphology of vertebral body.'),('HP:0003316','Butterfly vertebrae','In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra.'),('HP:0003318','Cervical spine hypermobility',''),('HP:0003319','Abnormality of the cervical spine','Any abnormality of the cervical vertebral column.'),('HP:0003320','C1-C2 subluxation','A partial dislocation of the atlantoaxial joints.'),('HP:0003321','Biconcave flattened vertebrae',''),('HP:0003323','Progressive muscle weakness',''),('HP:0003324','Generalized muscle weakness','Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.'),('HP:0003325','Limb-girdle muscle weakness','Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.'),('HP:0003326','Myalgia','Pain in muscle.'),('HP:0003327','Axial muscle weakness','Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).'),('HP:0003328','Abnormal hair laboratory examination',''),('HP:0003329','Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes',''),('HP:0003330','Abnormal bone structure','Any anomaly in the composite material or the layered arrangement of the bony skeleton.'),('HP:0003332','Absent primary metaphyseal spongiosa',''),('HP:0003333','Increased serum beta-hexosaminidase',''),('HP:0003334','Elevated circulating catecholamine level','An abnormal increase in catecholamine concentration in the blood.'),('HP:0003335','obsolete Low gonadotropins (secondary hypogonadism)',''),('HP:0003336','Abnormal enchondral ossification','An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.'),('HP:0003337','Reduced prothrombin consumption','The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.'),('HP:0003338','Focal necrosis of right ventricular muscle cells',''),('HP:0003339','Pyrimidine-responsive megaloblastic anemia','A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.'),('HP:0003340','obsolete Abnormal dermatological laboratory findings',''),('HP:0003341','Junctional split','The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.'),('HP:0003343','Reduced glutathione synthetase level','Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.'),('HP:0003344','3-Methylglutaric aciduria',''),('HP:0003345','Elevated urinary norepinephrine','An increased concentration of noradrenaline in the urine.'),('HP:0003347','Impaired lymphocyte transformation with phytohemagglutinin','Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.'),('HP:0003348','Hyperalaninemia','An increased concentration of alanine in the blood.'),('HP:0003349','Low cholesterol esterification rate','A reduction in the rate of cholesterol esterification.'),('HP:0003351','Decreased circulating renin level','An decreased level of renin in the blood.'),('HP:0003352','Endopolyploidy on chromosome studies of bone marrow','An increase in the number of chromosome sets per cell in bone marrow cells.'),('HP:0003353','Propionyl-CoA carboxylase deficiency','An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.'),('HP:0003354','Hyperthreoninemia','An increased concentration of threonine in the blood.'),('HP:0003355','Aminoaciduria','An increased concentration of an amino acid in the urine.'),('HP:0003357','Thymic hormone decreased','A reduction in the level of thymic horomone.'),('HP:0003358','Elevated intracellular cystine','An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.'),('HP:0003359','Decreased urinary sulfate','Decreased concentration of sulfate in the urine.'),('HP:0003361','Tryptophanuria','An increased concentration of tryptophan in the urine.'),('HP:0003362','Increased VLDL cholesterol concentration','An increase in the amount of very-low-density lipoprotein cholesterol in the blood.'),('HP:0003363','Abdominal situs inversus','A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen.'),('HP:0003365','Arthralgia of the hip','Joint pain affecting the hip.'),('HP:0003366','Abnormality of the femoral neck or head region',''),('HP:0003367','Abnormality of the femoral neck','An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0003368','Abnormality of the femoral head','An abnormality of the femoral head.'),('HP:0003370','Flat capital femoral epiphysis','An abnormal flattening of the proximal epiphysis of the femur.'),('HP:0003371','Enlargement of the proximal femoral epiphysis','An abnormal enlargement of the proximal epiphysis of the femur.'),('HP:0003375','Narrow greater sciatic notch','A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.'),('HP:0003376','Steppage gait','An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.'),('HP:0003378','Axonal degeneration/regeneration','A pattern of simultaneous degeneration and regeneration of axons (see comment).'),('HP:0003380','Decreased number of peripheral myelinated nerve fibers','A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).'),('HP:0003382','Hypertrophic nerve changes',''),('HP:0003383','Onion bulb formation','Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.'),('HP:0003384','Peripheral axonal atrophy','Atrophic changes of axons of the peripheral nervous system.'),('HP:0003387','Decreased number of large peripheral myelinated nerve fibers','A reduced number of large myelinated nerve fibers.'),('HP:0003388','Easy fatigability','Increased susceptibility to fatigue.'),('HP:0003390','Sensory axonal neuropathy','An axonal neuropathy of peripheral sensory nerves.'),('HP:0003391','Gowers sign','A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.'),('HP:0003392','First dorsal interossei muscle weakness',''),('HP:0003393','Thenar muscle atrophy','Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.'),('HP:0003394','Muscle spasm','Sudden and involuntary contractions of one or more muscles.'),('HP:0003396','Syringomyelia','Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.'),('HP:0003397','Generalized hypotonia due to defect at the neuromuscular junction',''),('HP:0003398','Abnormal synaptic transmission at the neuromuscular junction','Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.'),('HP:0003400','Basal lamina onion bulb formation','A type of onion bulb formation prominently affecting the area of the basal lamina.'),('HP:0003401','Paresthesia','Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.'),('HP:0003402','Decreased miniature endplate potentials','An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.'),('HP:0003403','EMG: decremental response of compound muscle action potential to repetitive nerve stimulation','A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.'),('HP:0003405','Diffuse axonal swelling',''),('HP:0003406','Peripheral nerve compression',''),('HP:0003409','Distal sensory impairment of all modalities',''),('HP:0003411','Proximal femoral metaphyseal irregularity','Irregularity of the normally smooth surface of the proximal metaphysis of the femur.'),('HP:0003413','Atlantoaxial abnormality','An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.'),('HP:0003414','Atlantoaxial dislocation','Partial dislocation of the atlantoaxial joint.'),('HP:0003416','Spinal canal stenosis','An abnormal narrowing of the spinal canal.'),('HP:0003417','Coronal cleft vertebrae','Frontal schisis (cleft or cleavage) of vertebral bodies.'),('HP:0003418','Back pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.'),('HP:0003419','Low back pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.'),('HP:0003421','obsolete Platyspondyly (childhood)',''),('HP:0003422','Vertebral segmentation defect','An abnormality related to a defect of vertebral separation during development.'),('HP:0003423','Thoracolumbar kyphoscoliosis',''),('HP:0003426','First dorsal interossei muscle atrophy',''),('HP:0003427','Thenar muscle weakness',''),('HP:0003429','CNS hypomyelination','Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.'),('HP:0003431','Decreased motor nerve conduction velocity','A type of decreased nerve conduction velocity that affects the motor neuron.'),('HP:0003434','Sensory ataxic neuropathy',''),('HP:0003435','Cold-induced hand cramps',''),('HP:0003436','Prolonged miniature endplate currents','An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.'),('HP:0003438','Absent Achilles reflex','Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.'),('HP:0003440','Horizontal sacrum',''),('HP:0003443','Decreased size of nerve terminals','A reduction in the size of nerve terminals.'),('HP:0003444','EMG: chronic denervation signs','Evidence of chronic denervation on electromyography.'),('HP:0003445','EMG: neuropathic changes','The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).'),('HP:0003447','Axonal loss','A reduction in the number of axons in the peripheral nervous system.'),('HP:0003448','Decreased sensory nerve conduction velocity','Reduced speed of conduction of the action potential along a sensory nerve.'),('HP:0003449','Cold-induced muscle cramps','Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.'),('HP:0003450','Axonal regeneration','The presence of axonal regeneration following a previous axonal lesion.'),('HP:0003451','Increased rate of premature chromosome condensation','An increased rate of premature chromosome condensation.'),('HP:0003452','Increased serum iron',''),('HP:0003453','Antineutrophil antibody positivity','The presence of autoantibodies in the serum that react against neutrophils.'),('HP:0003454','Platelet antibody positive','The presence in the serum of autoantibodies directed against thrombocytes.'),('HP:0003455','Elevated circulating long chain fatty acid concentration','Increased concentration of long-chain fatty acids in the blood circulation.'),('HP:0003456','Low urinary cyclic AMP response to PTH administration',''),('HP:0003457','EMG abnormality','Abnormal results of investigations using electromyography (EMG).'),('HP:0003458','EMG: myopathic abnormalities','The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.'),('HP:0003459','Polyclonal elevation of IgM','A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.'),('HP:0003460','Decreased circulating total IgA','Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).'),('HP:0003461','Increased urinary O-linked sialopeptides','Excretion of peptides conjugated to sialic acid in the urine.'),('HP:0003462','Elevated 8-dehydrocholesterol',''),('HP:0003463','Increased extraneuronal autofluorescent lipopigment','Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.'),('HP:0003464','obsolete Abnormal cholesterol homeostasis',''),('HP:0003465','Elevated 8(9)-cholestenol',''),('HP:0003466','Paradoxical increased cortisol secretion on dexamethasone suppression test',''),('HP:0003467','Atlantoaxial instability','Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.'),('HP:0003468','Abnormal vertebral morphology','An abnormality of one or more of the vertebrae.'),('HP:0003469','Peripheral dysmyelination','Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.'),('HP:0003470','Paralysis','Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.'),('HP:0003472','Hypocalcemic tetany','Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.'),('HP:0003473','Fatigable weakness','A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0003474','Sensory impairment','An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.'),('HP:0003477','Peripheral axonal neuropathy','An abnormality characterized by disruption of the normal functioning of peripheral axons.'),('HP:0003481','Segmental peripheral demyelination/remyelination','A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.'),('HP:0003482','EMG: axonal abnormality','Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.'),('HP:0003484','Upper limb muscle weakness','Weakness of the muscles of the arms.'),('HP:0003487','Babinski sign','Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.'),('HP:0003489','Acute episodes of neuropathic symptoms',''),('HP:0003490','obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA',''),('HP:0003491','Elevated urine pyrophosphate','An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.'),('HP:0003492','High urinary gonadotropin level','An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.'),('HP:0003493','Antinuclear antibody positivity','The presence of autoantibodies in the serum that react against nuclei or nuclear components.'),('HP:0003494','obsolete Loss of heterozygosity, multiple chromosomes',''),('HP:0003495','GM2-ganglioside accumulation','Cellular accumulation of GM2 gangliosides.'),('HP:0003496','Increased circulating IgM level','An abnormally increased level of immunoglobulin M in blood.'),('HP:0003498','Disproportionate short stature','A kind of short stature in which different regions of the body are shortened to differing extents.'),('HP:0003502','Mild short stature','A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.'),('HP:0003508','Proportionate short stature','A kind of short stature in which different regions of the body are shortened to a comparable extent.'),('HP:0003510','Severe short stature','A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.'),('HP:0003513','Reduced ratio of renal calcium clearance to creatinine clearance','A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.'),('HP:0003514','Deficiency or absence of cytochrome b(-245)',''),('HP:0003517','Birth length greater than 97th percentile',''),('HP:0003521','Disproportionate short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.'),('HP:0003524','Decreased methionine synthase activity','A reduction in methionine synthase activity.'),('HP:0003526','Orotic acid crystalluria','Formation of crystals owing to an increased concentration of orotic acid in the urine.'),('HP:0003527','Hyperprostaglandinuria','An increased concentration of prostaglandin in the urine.'),('HP:0003528','Elevated calcitonin',''),('HP:0003529','Parathormone-independent increased renal tubular calcium reabsorption','An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.'),('HP:0003530','Glutaric acidemia','An increased concentration of glutaric acid in the blood.'),('HP:0003532','Ornithinuria','An increased concentration of ornithine in the urine.'),('HP:0003533','Reduced acetaldehyde dehydrogenase level','Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.'),('HP:0003534','Reduced xanthine dehydrogenase level','An abnormal reduction in xanthine dehydrogenase level.'),('HP:0003535','3-Methylglutaconic aciduria','An increased amount of 3-methylglutaconic acid in the urine.'),('HP:0003536','Decreased fumarate hydratase activity','An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.'),('HP:0003537','Hypouricemia','An abnormally low level of uric acid in the blood.'),('HP:0003538','Increased serum iduronate sulfatase level','An increased level of iduronate-2-sulfatase activity in the blood.'),('HP:0003540','Impaired platelet aggregation','An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.'),('HP:0003541','Urinary glycosaminoglycan excretion','Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.'),('HP:0003542','Increased serum pyruvate','An increased concentration of pyruvate in the blood.'),('HP:0003546','Exercise intolerance','A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.'),('HP:0003547','Shoulder girdle muscle weakness','The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.'),('HP:0003548','Subsarcolemmal accumulations of abnormally shaped mitochondria','An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.'),('HP:0003549','Abnormality of connective tissue','Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).'),('HP:0003550','Predominantly lower limb lymphedema','Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.'),('HP:0003551','Difficulty climbing stairs','Reduced ability to climb stairs.'),('HP:0003552','Muscle stiffness','A condition in which muscles cannot be moved quickly without accompanying pain or spasm.'),('HP:0003553','obsolete Cellulitis due to immunodeficiency',''),('HP:0003554','Type 2 muscle fiber atrophy','Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.'),('HP:0003555','Muscle fiber splitting','Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.'),('HP:0003557','Increased variability in muscle fiber diameter','An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.'),('HP:0003558','Viral infection-induced rhabdomyolysis','Rhabdomyolysis induced by a viral infection.'),('HP:0003559','Muscle hyperirritability',''),('HP:0003560','Muscular dystrophy','The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.'),('HP:0003561','Birth length less than 3rd percentile',''),('HP:0003562','Abnormal metaphyseal vascular invasion',''),('HP:0003563','Decreased LDL cholesterol concentration','An decreased concentration of low-density lipoprotein cholesterol in the blood.'),('HP:0003564','Folate-dependent fragile site at Xq28','The presence of a folate sensitive fragile site at chromosome Xq28.'),('HP:0003565','Elevated erythrocyte sedimentation rate','An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.'),('HP:0003566','Increased serum prostaglandin E2','An increased concentration of prostaglandin E2 in the blood.'),('HP:0003568','Decreased glucosephosphate isomerase level','A decreased level of glucose-6-phosphate isomerase.'),('HP:0003570','Molybdenum cofactor deficiency','Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.'),('HP:0003571','Propionicacidemia',''),('HP:0003572','Low plasma citrulline','A decreased concentration of citrulline in the blood.'),('HP:0003573','Increased total bilirubin','Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.'),('HP:0003574','Positive regitine blocking test','A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.'),('HP:0003575','Increased intracellular sodium','An abnormally increased sodium concentration in the cytosol.'),('HP:0003577','Congenital onset','A phenotypic abnormality that is present at birth.'),('HP:0003581','Adult onset','Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.'),('HP:0003584','Late onset','A type of adult onset with onset of symptoms after the age of 60 years.'),('HP:0003587','Insidious onset','Gradual, very slow onset of disease manifestations.'),('HP:0003593','Infantile onset','Onset of signs or symptoms of disease between 28 days to one year of life.'),('HP:0003596','Middle age onset','A type of adult onset with onset of symptoms at the age of 40 to 60 years.'),('HP:0003606','Absent urinary urothione','Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.'),('HP:0003607','4-Hydroxyphenylacetic aciduria','Increased concentration of 4-hydroxyphenylacetic acid in the urine.'),('HP:0003609','Foam cells with lamellar inclusion bodies','The presence of foam cells that contain lamellar inclusion bodies.'),('HP:0003610','Fibroblast metachromasia','Increased cytoplasmic staining of fibroblasts with toluidine blue.'),('HP:0003612','Positive ferric chloride test','If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.'),('HP:0003613','Antiphospholipid antibody positivity','The presence of circulating autoantibodies to phospholipids.'),('HP:0003614','Trimethylaminuria','Increased concentration of trimethylamine in the urine.'),('HP:0003616','Premature separation of centromeric heterochromatin',''),('HP:0003621','Juvenile onset','Onset of signs or symptoms of disease between the age of 5 and 15 years.'),('HP:0003623','Neonatal onset','Onset of signs or symptoms of disease within the first 28 days of life.'),('HP:0003634','Amyoplasia','Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.'),('HP:0003635','Loss of subcutaneous adipose tissue in limbs','Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.'),('HP:0003637','Reduced 4-Hydroxyphenylpyruvate dioxygenase level','An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.'),('HP:0003639','Elevated urinary epinephrine','An increased concentration of adrenaline in the urine.'),('HP:0003640','Foam cells in visceral organs and CNS',''),('HP:0003641','Hemoglobinuria','The presence of free hemoglobin in the urine.'),('HP:0003642','Type I transferrin isoform profile','Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.'),('HP:0003643','Sulfite oxidase deficiency','Abnormally reduced sulfite oxidase level.'),('HP:0003645','Prolonged partial thromboplastin time','Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.'),('HP:0003646','Bicarbonaturia','Abnormally increased concentration of hydrogencarbonate in the urine.'),('HP:0003647','Electron transfer flavoprotein-ubiquinone oxidoreductase defect','A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.'),('HP:0003648','Lacticaciduria','An increased concentration of lactic acid in the urine.'),('HP:0003649','Abnormality of glycoside metabolism','Abnormality of glycoside metabolism.'),('HP:0003651','Foam cells','The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.'),('HP:0003652','Recurrent myoglobinuria','Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.'),('HP:0003653','Cellular metachromasia','Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.'),('HP:0003654','Reduced dihydropyrimidine dehydrogenase level','An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.'),('HP:0003655','Reduced level of N-acetylglucosaminyltransferase II','An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.'),('HP:0003656','Decreased beta-glucocerebrosidase level','Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.'),('HP:0003657','Granular osmiophilic deposits (GROD) in cells',''),('HP:0003658','Hypomethioninemia','A decreased concentration of methionine in the blood.'),('HP:0003665','Amyotrophy of the musculature of the pelvis','Muscular atrophy affecting the muscles of the pelvis.'),('HP:0003674','Onset','The age group in which disease manifestations appear.'),('HP:0003676','Progressive',''),('HP:0003677','Slow progression',''),('HP:0003678','Rapidly progressive',''),('HP:0003679','Pace of progression',''),('HP:0003680','Nonprogressive',''),('HP:0003682','Variable progression rate',''),('HP:0003683','Large beaked nose',''),('HP:0003687','Centrally nucleated skeletal muscle fibers','An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).'),('HP:0003688','Cytochrome C oxidase-negative muscle fibers','An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.'),('HP:0003689','Multiple mitochondrial DNA deletions','The presence of multiple deletions of mitochondrial DNA (mtDNA).'),('HP:0003690','Limb muscle weakness','Reduced strength and weakness of the muscles of the arms and legs.'),('HP:0003691','Scapular winging','Abnormal protrusion of the scapula away from the surface of the back.'),('HP:0003693','Distal amyotrophy','Muscular atrophy affecting muscles in the distal portions of the extremities.'),('HP:0003694','Late-onset proximal muscle weakness','Lack of strength of the proximal musculature occurring late in the clinical course.'),('HP:0003696','Absent epiphysis of the distal phalanx of the 5th finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.'),('HP:0003697','Scapuloperoneal amyotrophy','Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.'),('HP:0003698','Difficulty standing',''),('HP:0003700','Generalized amyotrophy','Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.'),('HP:0003701','Proximal muscle weakness','A lack of strength of the proximal muscles.'),('HP:0003704','Scapuloperoneal weakness',''),('HP:0003707','Calf muscle pseudohypertrophy','Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.'),('HP:0003710','Exercise-induced muscle cramps','Sudden and involuntary contractions of one or more muscles brought on by physical exertion.'),('HP:0003712','Skeletal muscle hypertrophy','Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).'),('HP:0003713','Muscle fiber necrosis','Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.'),('HP:0003715','Myofibrillar myopathy','Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.'),('HP:0003716','Generalized muscular appearance from birth',''),('HP:0003717','Minimal subcutaneous fat',''),('HP:0003719','Muscle mounding',''),('HP:0003720','Generalized muscle hypertrophy','Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.'),('HP:0003722','Neck flexor weakness','Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).'),('HP:0003724','Shoulder girdle muscle atrophy','Amyotrophy affecting the muscles of the shoulder girdle.'),('HP:0003725','Firm muscles',''),('HP:0003729','Enteroviral dermatomyositis syndrome',''),('HP:0003730','EMG: myotonic runs','Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).'),('HP:0003731','Quadriceps muscle weakness','Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).'),('HP:0003733','Thigh hypertrophy','Muscle hypertrophy affecting the thighs.'),('HP:0003736','Autophagic vacuoles','The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.'),('HP:0003737','Mitochondrial myopathy','A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.'),('HP:0003738','Exercise-induced myalgia','The occurrence of an unusually high amount of muscle pain following exercise.'),('HP:0003739','Myoclonic spasms',''),('HP:0003740','Myotonia with warm-up phenomenon','Myotonia that occurs after a period of rest and decreases with continuing exercise.'),('HP:0003741','Congenital muscular dystrophy',''),('HP:0003743','Genetic anticipation','A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.'),('HP:0003744','Genetic anticipation with paternal anticipation bias','A type of genetic anticipation observed predominantly upon transmission from affected males.'),('HP:0003745','Sporadic','Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.'),('HP:0003749','Pelvic girdle muscle weakness','Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.'),('HP:0003750','Increased muscle fatiguability','An abnormal, increased fatiguability of the musculature.'),('HP:0003752','Episodic flaccid weakness','Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.'),('HP:0003755','Type 1 fibers relatively smaller than type 2 fibers','The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.'),('HP:0003756','Skeletal myopathy',''),('HP:0003758','Reduced subcutaneous adipose tissue','A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.'),('HP:0003759','Hypoplasia of lymphatic vessels','Congenital underdevelopment of lymph vessels.'),('HP:0003760','Percussion-induced rapid rolling muscle contractions','Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.'),('HP:0003761','Calcinosis','Formation of calcium deposits in any soft tissue.'),('HP:0003762','Uterus didelphys','A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.'),('HP:0003763','Bruxism','Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.'),('HP:0003764','Nevus','A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.'),('HP:0003765','Psoriasiform dermatitis','A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).'),('HP:0003768','Periodic paralysis','Episodes of muscle weakness.'),('HP:0003771','Pulp stones','Multiple punctate calcifications in the dental pulp.'),('HP:0003774','Stage 5 chronic kidney disease','A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.'),('HP:0003777','Pili torti','Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.'),('HP:0003778','Short mandibular rami',''),('HP:0003779','Antegonial notching of mandible',''),('HP:0003781','Excessive salivation','Excessive production of saliva.'),('HP:0003782','Eunuchoid habitus','A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).'),('HP:0003783','Externally rotated/abducted legs',''),('HP:0003784','Type 1 collagen overmodification',''),('HP:0003785','Decreased CSF homovanillic acid','Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.'),('HP:0003787','Type 1 and type 2 muscle fiber minicore regions','Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.'),('HP:0003789','Minicore myopathy','Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.'),('HP:0003791','Deposits immunoreactive to beta-amyloid protein',''),('HP:0003795','Short middle phalanx of toe','Developmental hypoplasia (shortening) of middle phalanx of toe.'),('HP:0003796','Irregular iliac crest','Irregularity of the iliac crest, which is the superior border of the wing of the ilium.'),('HP:0003797','Limb-girdle muscle atrophy','Muscular atrophy affecting the muscles of the limb girdle.'),('HP:0003798','Nemaline bodies','Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.'),('HP:0003799','Marked delay in bone age',''),('HP:0003800','Muscle abnormality related to mitochondrial dysfunction',''),('HP:0003803','Type 1 muscle fiber predominance','An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).'),('HP:0003805','Rimmed vacuoles','Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.'),('HP:0003808','Abnormal muscle tone',''),('HP:0003809','Reduced intrathoracic adipose tissue','An abnormally reduced amount of adipose tissue in the thoracic cavity.'),('HP:0003810','Late-onset distal muscle weakness',''),('HP:0003811','Neonatal death','Death within the first 28 days of life.'),('HP:0003812','Phenotypic variability','A variability of phenotypic features.'),('HP:0003819','Death in childhood','Death in during childhood, defined here as between the ages of 2 and 10 years.'),('HP:0003826','Stillbirth','Death of the fetus in utero after at least 20 weeks of gestation.'),('HP:0003828','Variable expressivity','A variable severity of phenotypic features.'),('HP:0003829','Incomplete penetrance','A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.'),('HP:0003831','Age-dependent penetrance','A situation in which phenotypic abnormalities become evident with age.'),('HP:0003832','Abnormality of the tibial plateaux',''),('HP:0003833','Laterally deficient tibial plateaux',''),('HP:0003834','Shoulder dislocation','A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.'),('HP:0003835','Shoulder subluxation','A partial dislocation of the shoulder joint.'),('HP:0003836','Stippled calcification of the shoulder',''),('HP:0003837','Soft-tissue ossification around the shoulders','Formation of calcified tissue in the soft tissues surrounding the shoulder.'),('HP:0003839','Abnormality of upper limb epiphysis morphology',''),('HP:0003840','Delayed upper limb epiphyseal ossification','A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.'),('HP:0003841','Fragmented epiphyses of the upper limbs',''),('HP:0003842','Irregular epiphyses of the upper limbs',''),('HP:0003843','Round epiphyses of the upper limbs',''),('HP:0003844','Small epiphyses of the upper limbs',''),('HP:0003846','Wide epiphyseal plates of the upper limbs',''),('HP:0003848','Cupped metaphyses of the upper limbs',''),('HP:0003849','Flared upper limb metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.'),('HP:0003850','Upper-limb metaphyseal irregularity',''),('HP:0003851','Lytic defects in metaphyses of the upper limbs',''),('HP:0003852','Normal density transverse bands in metaphyses of the upper limbs',''),('HP:0003853','Sclerosis with transverse striations in metaphyses of the upper limbs',''),('HP:0003854','Sclerosis of metaphyses of the upper limbs',''),('HP:0003855','Spurred metaphyses of the upper limbs',''),('HP:0003856','Upper limb metaphyseal widening','Increased width (breadth) of metaphyses of the arms.'),('HP:0003858','Cortical diaphyseal irregularity of the upper limbs',''),('HP:0003859','Cortical diaphyseal thickening of the upper limbs',''),('HP:0003860','Diaphyseal sclerosis of the upper limbs','An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0003861','Broad diaphyses of the upper limbs',''),('HP:0003862','Absent humerus','Missing humerus bone associated with congenital failure of development.'),('HP:0003863','Angulated humerus',''),('HP:0003864','Bifid humerus','Clefting affecting the humerus.'),('HP:0003865','Bowed humerus','A bending or abnormal curvature of the humerus.'),('HP:0003866','Coarse humeral trabeculae',''),('HP:0003867','Humeral cortical irregularity',''),('HP:0003868','Humeral cortical thickening',''),('HP:0003869','Humeral cortical thinning',''),('HP:0003870','Crumpled humerus',''),('HP:0003871','Deformed humerus',''),('HP:0003872','Humeral exostoses','Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.'),('HP:0003874','Humerus varus',''),('HP:0003875','Humeral lytic defects','Destruction of an area of humerus bone due to a disease process, such as cancer.'),('HP:0003876','Osteoporotic humerus',''),('HP:0003877','Oval transradiancy of humerus',''),('HP:0003878','Periosteal new bone of humerus',''),('HP:0003879','Humeral pseudarthrosis',''),('HP:0003880','Sclerotic foci of the humerus',''),('HP:0003881','Humeral sclerosis',''),('HP:0003882','Slender humerus','Reduction in diameter of the humerus.'),('HP:0003883','Tapered humerus',''),('HP:0003884','Triangular humerus',''),('HP:0003885','Undermodeled humerus',''),('HP:0003886','Wide humerus',''),('HP:0003887','Abnormality of the humeral heads',''),('HP:0003888','Flattened humeral heads',''),('HP:0003889','Abnormality of the deltoid tuberosities',''),('HP:0003890','Prominent deltoid tuberosities',''),('HP:0003891','Abnormality of the humeral epiphysis','An anomaly of the humeral epiphysis.'),('HP:0003892','Absent humeral epiphyseal ossification','Lack of formation of bone in the epiphysis of the humerus.'),('HP:0003893','Advanced ossification of the humeral epiphysis','Ossification of the humeral epiphysis at an earlier age than normal.'),('HP:0003894','Delayed humeral epiphyseal ossification','A delay in the process of formation and maturation of the humeral epiphysis.'),('HP:0003895','Flattened humeral epiphyses',''),('HP:0003896','Irregular humeral epiphyses',''),('HP:0003897','Irregular ossification of the humeral epiphyses',''),('HP:0003898','Large humeral epiphyses',''),('HP:0003899','Round humeral epiphyses',''),('HP:0003900','Small humeral epiphyses',''),('HP:0003901','Stippled calcification of the humeral epiphyses',''),('HP:0003902','Epiphyseal stippling of the humerus','The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.'),('HP:0003903','Broad humeral epiphyses','Increased width of the humeral epiphysis.'),('HP:0003904','Wide epiphyses of the upper limbs',''),('HP:0003905','Abnormality of the humeral epiphyseal plate',''),('HP:0003906','Broad humeral epiphyseal plate','Increased width of the humeral epiphyseal growth plate.'),('HP:0003907','Abnormality of the humeral metaphyses',''),('HP:0003908','Corner fracture of metaphysis','Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.'),('HP:0003909','Cortical subperiosteal resorption of humeral metaphyses',''),('HP:0003910','Enlarged humeral metaphyses',''),('HP:0003911','Flared humeral metaphysis','Flaring (increase of width with a splayed appearance) of the humeral metaphysis.'),('HP:0003912','Frayed humeral metaphyses',''),('HP:0003913','Humeral metaphyseal irregularity',''),('HP:0003914','Irregular ossification of humeral metaphyses',''),('HP:0003915','Lytic defects of the humeral metaphysis',''),('HP:0003916','Normal-density transverse humeral bands',''),('HP:0003917','Pointed humeral metaphysis',''),('HP:0003918','Sclerotic humeral metaphysis',''),('HP:0003919','Sclerotic humeral metaphysis with longitudinal striations',''),('HP:0003920','Sloping humeral metaphysis',''),('HP:0003921','Laterally sloping humeral metaphysis',''),('HP:0003922','Spurred humeral metaphysis',''),('HP:0003923','Square humeral metaphysis',''),('HP:0003924','Stippled calcification of humeral metaphysis',''),('HP:0003926','Abnormality of the humeral diaphysis','An anomaly of the humeral diaphysis.'),('HP:0003927','Cortical irregularity of humeral diaphysis','An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.'),('HP:0003928','Cortical thickening of humeral diaphysis',''),('HP:0003929','Ground glass opacity of humeral diaphysis',''),('HP:0003930','Lytic defects of humeral diaphysis',''),('HP:0003931','Periosteal new bone of humeral diaphysis',''),('HP:0003932','Sclerotic foci of humeral diaphysis',''),('HP:0003933','Sclerosis of humeral diaphysis',''),('HP:0003934','Slender humeral diaphysis',''),('HP:0003935','Wide humeral diaphysis','Increased width of the humeral diaphysis.'),('HP:0003938','Synostosis involving the elbow',''),('HP:0003939','Humeroulnar synostosis','An abnormal osseous union (fusion) between the ulna and the humerus.'),('HP:0003940','Osteoarthritis of the elbow',''),('HP:0003941','Stippled calcification of the elbow',''),('HP:0003942','Synovial chondromatosis of the elbow',''),('HP:0003943','Abnormality of the joint spaces of the elbow',''),('HP:0003944','Narrow joint spaces of the elbow',''),('HP:0003945','Irregular articular surfaces of the elbow joints',''),('HP:0003946','Abnormality of the epiphyses of the elbow',''),('HP:0003947','Delayed elbow epiphyseal ossification','A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.'),('HP:0003948','Irregular epiphyses of the elbow',''),('HP:0003949','Abnormality of the elbow metaphyses',''),('HP:0003950','Flared elbow metaphyses',''),('HP:0003951','Distal humeral metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).'),('HP:0003952','Sclerotic foci of metaphyses of the elbow',''),('HP:0003953','Absent forearm bone','Absence of one or more forearm bones associated with congenital failure of development.'),('HP:0003954','Angulated forearm bones',''),('HP:0003955','Bone-in-a-bone appearance of forearm','A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.'),('HP:0003956','Bowed forearm bones','A bending or abnormal curvature affecting either the radius, the ulna, or both.'),('HP:0003957','Cortical thickening of the forearm bones',''),('HP:0003958','Cross-fusion of the forearm bones',''),('HP:0003959','Deformed forearm bones',''),('HP:0003960','Exostoses of the forearm bones',''),('HP:0003961','Fractured forearm bones',''),('HP:0003963','Lytic defects of the forearm bones',''),('HP:0003964','Osteoporotic forearm bones',''),('HP:0003965','Pseudarthrosis of the forearm bones',''),('HP:0003966','Sclerotic foci in forearm bones',''),('HP:0003967','Sclerotic forearm bones',''),('HP:0003969','Slender forearm bones',''),('HP:0003970','Undermodelled forearm bones',''),('HP:0003971','Broad forearm bones','Abnormally wide bone of the skeleton of forearm.'),('HP:0003973','Wide radioulnar joints',''),('HP:0003974','Absent radius','Missing radius bone associated with congenital failure of development.'),('HP:0003975','obsolete Chevron-shaped/cone-shaped radius',''),('HP:0003976','Constricted radius',''),('HP:0003977','Deformed radius',''),('HP:0003978','Fractured radius',''),('HP:0003979','Lytic defects of the radius',''),('HP:0003980','Pseudarthrosis of the radius',''),('HP:0003981','Broad radius','Increased width of the radius.'),('HP:0003982','Aplasia of the ulna','Missing ulna bone associated with congenital failure of development.'),('HP:0003984','Posteriorly dislocated ulna',''),('HP:0003985','Exostoses of the ulna',''),('HP:0003986','Exostoses of the radius',''),('HP:0003987','Fractured ulna',''),('HP:0003988','Long ulna','Increased length of the ulna.'),('HP:0003989','Notched ulna',''),('HP:0003990','Pointed ulna',''),('HP:0003991','Osteosclerosis of the ulna','Osteosclerosis (increased density related to increased bone mass) of the ulna.'),('HP:0003992','Slender ulna','Reduction in diameter of the ulna.'),('HP:0003993','Broad ulna','Increased width of the ulna.'),('HP:0003994','Dislocated wrist','An injury of the wrist with displacement of any of the eight carpal bones.'),('HP:0003995','Abnormality of the radial head',''),('HP:0003996','Flattened radial head',''),('HP:0003997','Hypoplastic radial head',''),('HP:0003998','Constricted radial neck',''),('HP:0003999','Abnormality of radial epiphyses',''),('HP:0004000','Cone-shaped distal radial epiphysis','The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.'),('HP:0004001','Medially deficient radial epiphyses',''),('HP:0004002','Flattened radial epiphyses',''),('HP:0004003','Medially flattened radial epiphyses',''),('HP:0004004','Irregular radial epiphyses',''),('HP:0004005','Large radial epiphyses',''),('HP:0004006','Round radial epiphyses',''),('HP:0004007','Sclerotic radial epiphyses',''),('HP:0004008','Sloping radial epiphyses',''),('HP:0004009','Medially sloping radial epiphyses',''),('HP:0004010','Small radial epiphyses',''),('HP:0004012','Premature fusion of the radial epiphyseal plates','A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.'),('HP:0004013','Medially fused radial epiphyseal plates',''),('HP:0004014','Broad radial epiphyseal plate','Abnormal increase in width of the epiphyseal growth plate of the radius.'),('HP:0004015','Abnormality of radial metaphyses',''),('HP:0004016','Cupped radial metaphyses',''),('HP:0004017','Exostoses of the radial metaphysis',''),('HP:0004018','Flared radial metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.'),('HP:0004019','Radial metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis of the radius.'),('HP:0004020','Irregular ossification of the radial metaphysis',''),('HP:0004021','Lytic defects of radial metaphysis',''),('HP:0004022','Sclerotic radial metaphysis with longitudinal striations',''),('HP:0004023','Sloping radial metaphysis',''),('HP:0004024','Medially sloping radial metaphysis',''),('HP:0004025','Spurred radial metaphysis',''),('HP:0004026','Broad radial metaphysis','Increase in width (breadth) of the radial metaphysis.'),('HP:0004027','Abnormality of radial diaphysis','An anomaly of the radial diaphysis.'),('HP:0004028','Spurs of radial diaphysis',''),('HP:0004029','Lytic defects of radial diaphysis',''),('HP:0004030','Patchy sclerosis of radial diaphysis',''),('HP:0004031','Broad radial diaphysis','Increase in width of the diaphysis of radius.'),('HP:0004032','Abnormality of the olecranon',''),('HP:0004033','Curved olecranon',''),('HP:0004034','Irregular olecranon',''),('HP:0004035','Abnormality of the styloid process of ulna',''),('HP:0004036','Long styloid process of ulna',''),('HP:0004037','Abnormality of the ulnar epiphyses',''),('HP:0004038','obsolete Bony spicule of ulnar epiphyseal plate',''),('HP:0004039','Abnormality of ulnar metaphysis',''),('HP:0004040','Corner fragments of ulnar metaphysis',''),('HP:0004041','Cupped ulnar metaphysis',''),('HP:0004042','Ulnar metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis of the ulna.'),('HP:0004043','Lytic defects of ulnar metaphysis',''),('HP:0004044','Pointed ulnar metaphysis',''),('HP:0004045','Sloping ulnar metaphysis','A sloped configuration of the metaphysis (shaft) of the ulna.'),('HP:0004046','Spurred ulnar metaphysis',''),('HP:0004047','Wide ulnar metaphysis','Increase in width (breadth) of the ulnar metaphysis.'),('HP:0004048','Narrow joint spaces of wrist',''),('HP:0004049','Decreased carpal angles of wrist',''),('HP:0004050','Absent hand','The total absence of the hand, with no bony elements distal to the radius or ulna.'),('HP:0004051','Advanced ossification of the hand bones','Ossification of hand bones at an earlier age than normal.'),('HP:0004052','Delayed ossification of the hand bones','Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.'),('HP:0004053','Dysharmonic maturation of the hand bones','Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.'),('HP:0004054','Sclerosis of hand bone','Osteosclerosis affecting one or more bones of the hand.'),('HP:0004057','Mitten deformity','Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity.'),('HP:0004058','Hand monodactyly',''),('HP:0004059','Radial club hand','Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.'),('HP:0004060','Trident hand','A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.'),('HP:0004066','obsolete Laterally deviated thumb phalanges',''),('HP:0004083','obsolete Laterally deviated terminal thumb phalanx',''),('HP:0004090','obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis',''),('HP:0004095','Curved fingers',''),('HP:0004097','Deviation of finger','Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.'),('HP:0004099','Macrodactyly','Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.'),('HP:0004100','Abnormal 2nd finger morphology','An anomaly of the second finger, also known as the index finger.'),('HP:0004110','obsolete Radially deviated index finger phalanges',''),('HP:0004112','Midline nasal groove','An abnormal groove on the midline of the nose that may extend to the nasal tip.'),('HP:0004121','obsolete Radially displaced proximal index finger phalanx',''),('HP:0004122','Midline defect of the nose','This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.'),('HP:0004132','Dimple on nasal tip','An abnormal indentation of the skin in the region of the nasal tip.'),('HP:0004138','obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger',''),('HP:0004139','obsolete Flared metaphysis of middle phalanx of index finger',''),('HP:0004143','obsolete Radially deviated terminal index finger phalanx',''),('HP:0004144','obsolete Duplication of terminal index finger phalanx',''),('HP:0004150','Abnormal 3rd finger morphology','An anomaly of the third finger.'),('HP:0004153','obsolete Overgrowth of middle finger',''),('HP:0004157','obsolete Accessory middle-finger phalanges',''),('HP:0004161','obsolete Periosteal new bone of middle finger phalanges',''),('HP:0004162','obsolete Radially pointed middle finger phalanges',''),('HP:0004168','obsolete Radially pointed proximal middle-finger phalanx',''),('HP:0004172','Abnormality of the middle phalanx of the 3rd finger',''),('HP:0004174','obsolete Accessory middle phalanx of middle finger',''),('HP:0004175','obsolete Periosteal new bone of middle phalanx of middle-finger',''),('HP:0004180','Short distal phalanx of the 3rd finger','Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.'),('HP:0004183','obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger',''),('HP:0004184','obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger',''),('HP:0004185','obsolete Fused epiphysis of terminal phalanx of the middle finger',''),('HP:0004186','obsolete Large epiphysis of terminal phalanx of the middle finger',''),('HP:0004187','obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger',''),('HP:0004188','Abnormal 4th finger morphology',''),('HP:0004192','obsolete Bracket epiphyses of the 4th finger',''),('HP:0004193','obsolete Expanded phalanges of the ring finger',''),('HP:0004194','obsolete Hypoplastic phalanges of the ring finger',''),('HP:0004195','Osteolytic defects of the phalanges of the 4th finger','Osteolytic defects of the phalanges of the 4th (ring) finger.'),('HP:0004196','obsolete Short phalanges of the ring finger',''),('HP:0004197','Symphalangism of the 4th finger','Fusion of two or more bones of the 4th finger.'),('HP:0004198','obsolete Wide/broad phalanges of the ring finger',''),('HP:0004201','obsolete Expanded proximal phalanx of the ring finger',''),('HP:0004202','obsolete Lytic defects of the proximal phalanx of the ring finger',''),('HP:0004203','obsolete Short proximal phalanx of the ring finger',''),('HP:0004207','Abnormal 5th finger morphology','An abnormality affecting one or both 5th fingers.'),('HP:0004209','Clinodactyly of the 5th finger','Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).'),('HP:0004213','Abnormal 5th finger phalanx morphology','Abnormality of the phalanges of the 5th (little) finger.'),('HP:0004214','Curved phalanges of the 5th finger','Curved phalanges of the 5th (little) finger.'),('HP:0004216','Osteolytic defects of the phalanges of the 5th finger','Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.'),('HP:0004218','Symphalangism of the 5th finger','Fusion of two or more bones of the 5th finger.'),('HP:0004219','Abnormality of the middle phalanx of the 5th finger',''),('HP:0004220','Short middle phalanx of the 5th finger','Hypoplastic/small middle phalanx of the fifth finger.'),('HP:0004222','Cone-shaped epiphysis of the distal phalanx of the 5th finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0004223','Ivory epiphysis of the distal phalanx of the 5th finger','Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0004224','Abnormality of the epiphysis of the middle phalanx of the 5th finger','Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.'),('HP:0004225','Abnormality of the distal phalanx of the 5th finger','Abnormality of the distal phalanx of the 5th (little) finger.'),('HP:0004226','Curved distal phalanx of the 5th finger','Curved appearance of the distal phalanx of the 5th (little) finger.'),('HP:0004227','Short distal phalanx of the 5th finger','Hypoplastic/small distal phalanx of the fifth finger.'),('HP:0004230','Subluxation of the proximal interphalangeal joint of the little finger','A partial dislocation of the proximal interphalangeal joint of the little finger.'),('HP:0004231','Carpal bone aplasia','Congenital absence of a carpal bone.'),('HP:0004232','Accessory carpal bones','The presence of more than the normal number of carpal bones.'),('HP:0004233','Advanced ossification of carpal bones','Ossification of carpal bones at an abnormally early age.'),('HP:0004234','Bone-in-a-bone appearance of carpal bones','The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.'),('HP:0004235','Comma-shaped carpal bones',''),('HP:0004236','Irregular carpal bones','Carpal bones with irregular or fragmented margins.'),('HP:0004237','Large carpal bones','Increased size of carpal bones.'),('HP:0004238','Lytic defects of carpal bones',''),('HP:0004239','Proximally placed carpal bones',''),('HP:0004240','Sclerotic foci within carpal bones',''),('HP:0004241','Stippled calcification in carpal bones','Point-shaped (punctate) calcifications affecting the carpal bones.'),('HP:0004242','Broad carpal bones',''),('HP:0004243','Abnormality of the scaphoid',''),('HP:0004244','Accessory scaphoid',''),('HP:0004245','Comma-shaped scaphoid',''),('HP:0004246','Delayed ossification of the scaphoid','Formation of bone tissue of scaphoid is less than expected for age.'),('HP:0004247','Small scaphoid','Underdevelopment of the scaphoid.'),('HP:0004248','Abnormality of the lunate bone',''),('HP:0004249','Accessory lunate',''),('HP:0004250','Proximally placed lunate',''),('HP:0004251','Lunate-triquetral fusion','Osseous fusion of the lunate and triquetrum.'),('HP:0004252','Abnormality of the trapezium','An anomaly of trapezium.'),('HP:0004253','Absent trapezium',''),('HP:0004254','Delayed ossification of the trapezium','Formation of bone tissue of trapezium is less than expected for age.'),('HP:0004255','Small trapezium','Underdevelopment of the trapezium.'),('HP:0004256','Abnormality of the trapezoid bone',''),('HP:0004257','Delayed ossification of the trapezoid bone','Formation of bone tissue of trapezoid is less than expected for age.'),('HP:0004258','Small trapezoid bone','Underdevelopment of the trapezoid.'),('HP:0004259','Abnormality of the hamate bone',''),('HP:0004260','Large hamate bone',''),('HP:0004261','Wide hamate bone',''),('HP:0004262','Abnormality of the capitate bone',''),('HP:0004263','Large capitate bone',''),('HP:0004264','Narrow carpal joint spaces',''),('HP:0004267','Narrow small joints of the hand',''),('HP:0004268','Osteoarthritis of the small joints of the hand',''),('HP:0004269','Subluxation of the small joints of the hand','A partial dislocation of some or all of the small joints of the hand.'),('HP:0004271','Cortical thickening of hand bones',''),('HP:0004272','Cortical thinning of hand bones',''),('HP:0004273','Cupped metaphyses of hand bones',''),('HP:0004274','Deficient ossification of hand bones',''),('HP:0004275','Duplication of hand bones',''),('HP:0004276','Exostoses of hand bones','Abnormal formation of new bone on the surface of a bone of the hand.'),('HP:0004277','Fractured hand bones',''),('HP:0004278','Synostosis involving bones of the hand','An abnormal union between bones or parts of bones of the hand.'),('HP:0004279','Short palm','Short palm.'),('HP:0004280','Irregular ossification of hand bones',''),('HP:0004281','Irregular sclerosis of hand bones',''),('HP:0004283','Narrow palm','For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.'),('HP:0004284','Notched hand bones',''),('HP:0004285','Overmodelled hand bones',''),('HP:0004286','Patchy sclerosis of hand bones',''),('HP:0004287','Pointed hand bones',''),('HP:0004288','Pseudoepiphyses of hand bones',''),('HP:0004289','Sclerotic foci in hand bones',''),('HP:0004290','Sclerosis of hand bones with transverse striations',''),('HP:0004291','Stippled calcification of hand bones',''),('HP:0004292','Undermodelled hand bones',''),('HP:0004293','Synostosis of second metacarpal-trapezoid','Fusion of the second metacarpal-trapezoid.'),('HP:0004294','Subluxation of metacarpal phalangeal joints','A partial dislocation affecting some or all of the metacarpophalangeal joints.'),('HP:0004295','Abnormality of the gastric mucosa','An abnormality of the gastric mucous membrane.'),('HP:0004296','Abnormality of gastrointestinal vasculature',''),('HP:0004297','Abnormality of the biliary system','An abnormality of the biliary system.'),('HP:0004298','Abnormality of the abdominal wall','The presence of any abnormality affecting the abdominal wall.'),('HP:0004299','Hernia of the abdominal wall','The presence of a hernia in the abdominal wall.'),('HP:0004302','Functional motor deficit',''),('HP:0004303','Abnormal muscle fiber morphology','Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.'),('HP:0004305','Involuntary movements','Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.'),('HP:0004306','Abnormal endocardium morphology','An abnormality of the endocardium.'),('HP:0004307','Abnormal anatomic location of the heart','Thickening of the left ventricle wall with congenital onset.'),('HP:0004308','Ventricular arrhythmia',''),('HP:0004309','Ventricular preexcitation','An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.'),('HP:0004311','Abnormal macrophage morphology','An abnormality of macrophages.'),('HP:0004312','Abnormal reticulocyte morphology','A reticulocyte abnormality.'),('HP:0004313','Decreased circulating antibody level','An abnormally decreased level of immunoglobulin in blood.'),('HP:0004315','Decreased circulating IgG level','An abnormally decreased level of immunoglobulin G (IgG) in blood.'),('HP:0004319','Decreased circulating aldosterone level','Abnormally reduced levels of aldosterone.'),('HP:0004320','Vaginal fistula','The presence of a fistula of the vagina.'),('HP:0004321','Bladder fistula','The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.'),('HP:0004322','Short stature','A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).'),('HP:0004323','Abnormality of body weight','An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.'),('HP:0004324','Increased body weight','Abnormally increased body weight.'),('HP:0004325','Decreased body weight','Abnormally low body weight.'),('HP:0004326','Cachexia','Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.'),('HP:0004327','Abnormal vitreous humor morphology','Any structural anomaly of the vitreous body.'),('HP:0004328','Abnormal anterior eye segment morphology','An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).'),('HP:0004329','Abnormal posterior eye segment morphology',''),('HP:0004330','Increased skull ossification','An increase in the magnitude or amount of ossification of the skull.'),('HP:0004331','Decreased skull ossification','A reduction in the magnitude or amount of ossification of the skull.'),('HP:0004332','Abnormal lymphocyte morphology','An abnormality of lymphocytes.'),('HP:0004333','Bone-marrow foam cells','The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.'),('HP:0004334','Dermal atrophy','Partial or complete wasting (atrophy) of the skin.'),('HP:0004336','Myelin outfoldings','The presence of excessive redundant myelin in the peripheral nerve sheath.'),('HP:0004337','Abnormality of amino acid metabolism','Abnormality of an amino acid metabolic process.'),('HP:0004338','Abnormal circulating aromatic amino acid concentration','Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.'),('HP:0004339','Abnormal circulating sulfur amino acid concentration','Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.'),('HP:0004340','Abnormality of vitamin B metabolism',''),('HP:0004341','Abnormality of vitamin B12 metabolism',''),('HP:0004342','Abnormality of galactoside metabolism','Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.'),('HP:0004343','Abnormality of glycosphingolipid metabolism','An abnormality of glycosphingolipid metabolism.'),('HP:0004344','Abnormality of cerebrosidase metabolism',''),('HP:0004345','Ganglioside accumulation','Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).'),('HP:0004347','Weakness of muscles of respiration','Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.'),('HP:0004348','Abnormality of bone mineral density','This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient`s age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.'),('HP:0004349','Reduced bone mineral density','A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.'),('HP:0004352','Abnormal circulating purine concentration','Any deviation from the normal concentration of a purine in the blood circulation.'),('HP:0004353','Abnormal circulating pyrimidine concentration','Any deviation from the normal concentration of a pyrimidine in the blood circulation.'),('HP:0004354','Abnormal circulating carboxylic acid concentration','Any deviation from the normal concentration of a carboxylic acid in the blood circulation.'),('HP:0004355','obsolete Abnormality of proteoglycan metabolism',''),('HP:0004356','Abnormality of lysosomal metabolism',''),('HP:0004357','Abnormal circulating leucine concentration','Any deviation from the normal circulation of leucine in the blood circulation.'),('HP:0004358','Abnormality of superoxide metabolism',''),('HP:0004359','Abnormal circulating fatty-acid concentration','A deviation from the normal concentration of a fatty acid in the blood circulation.'),('HP:0004360','Abnormality of acid-base homeostasis','An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.'),('HP:0004361','Abnormality of circulating leptin level','An abnormal concentration of leptin in the blood.'),('HP:0004362','Abnormality of enteric ganglion morphology','An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach`s) and submucosal (Meissner`s) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.'),('HP:0004363','Abnormal circulating calcium concentration','Any deviation from the normal concentration of calcium in the blood circulation.'),('HP:0004364','Abnormal circulating nitrogen compound concentration','Any deviation from the normal concentration of a nitrogen compound in the blood circulation.'),('HP:0004365','Abnormal circulating tryptophan concentration','Any deviation from the normal concentration of tryptophan in the blood circulation.'),('HP:0004366','Abnormality of glycolysis','An abnormality of glycolysis.'),('HP:0004367','obsolete Abnormality of glycoprotein metabolism',''),('HP:0004368','Increased purine level',''),('HP:0004369','Decreased purine level',''),('HP:0004370','Abnormality of temperature regulation','An abnormality of temperature homeostasis.'),('HP:0004371','Abnormality of glycosaminoglycan metabolism','Abnormality of glycosaminoglycan metabolism.'),('HP:0004372','Reduced consciousness/confusion',''),('HP:0004373','Focal dystonia','A type of dystonia that is localized to a specific part of the body.'),('HP:0004374','Hemiplegia/hemiparesis','Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.'),('HP:0004375','Neoplasm of the nervous system','A tumor (abnormal growth of tissue) of the nervous system.'),('HP:0004376','Neuroblastic tumor','A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.'),('HP:0004377','Hematological neoplasm','Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).'),('HP:0004378','Abnormality of the anus','Abnormality of the anal canal.'),('HP:0004379','Abnormality of alkaline phosphatase level','An abnormality of alkaline phosphatase level.'),('HP:0004380','Aortic valve calcification','Deposition of calcium salts in the aortic valve.'),('HP:0004381','Supravalvular aortic stenosis','A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.'),('HP:0004382','Mitral valve calcification','Abnormal calcification of the mitral valve.'),('HP:0004383','Hypoplastic left heart','Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.'),('HP:0004384','Type I truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.'),('HP:0004385','Protracted diarrhea',''),('HP:0004386','Gastrointestinal inflammation','Inflammation of the alimentary part of the gastrointestinal system.'),('HP:0004387','Enterocolitis','An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).'),('HP:0004388','Microcolon','A colon of abnormally small caliber.'),('HP:0004389','Intestinal pseudo-obstruction','A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.'),('HP:0004390','Hamartomatous polyposis','Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.'),('HP:0004392','Prune belly','A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.'),('HP:0004394','Multiple gastric polyps',''),('HP:0004395','Malnutrition',''),('HP:0004396','Poor appetite',''),('HP:0004397','Ectopic anus','Abnormal displacement or malposition of the anus.'),('HP:0004398','Peptic ulcer','An ulcer of the gastrointestinal tract.'),('HP:0004399','Congenital pyloric atresia','Congenital atresia of the pylorus.'),('HP:0004400','Abnormality of the pylorus','An abnormality of the pylorus.'),('HP:0004401','Meconium ileus','Obstruction of the intestine due to abnormally thick meconium.'),('HP:0004403','Proximal esophageal atresia',''),('HP:0004404','Abnormal nipple morphology','An abnormality of the nipple.'),('HP:0004405','Prominent nipples',''),('HP:0004406','Spontaneous, recurrent epistaxis',''),('HP:0004407','Bony paranasal bossing',''),('HP:0004408','Abnormality of the sense of smell','An anomaly in the ability to perceive and distinguish scents (odors).'),('HP:0004409','Hyposmia','A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).'),('HP:0004411','Deviated nasal septum','Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.'),('HP:0004414','Abnormality of the pulmonary artery','An abnormality of the pulmonary artery.'),('HP:0004415','Pulmonary artery stenosis','An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0004416','Precocious atherosclerosis',''),('HP:0004417','Intermittent claudication','Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.'),('HP:0004418','Thrombophlebitis','Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).'),('HP:0004419','Recurrent thrombophlebitis','Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).'),('HP:0004420','Arterial thrombosis','The formation of a blood clot inside an artery.'),('HP:0004421','Elevated systolic blood pressure','Abnormal increase in systolic blood pressure.'),('HP:0004422','Biparietal narrowing','A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).'),('HP:0004423','Cranium bifidum occultum',''),('HP:0004425','Flat forehead','A forehead with abnormal flatness.'),('HP:0004426','Abnormality of the cheek','An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface'),('HP:0004428','Elfin facies','This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.'),('HP:0004429','Recurrent viral infections','Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.'),('HP:0004430','Severe combined immunodeficiency','A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.'),('HP:0004431','Complement deficiency','An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.'),('HP:0004432','Agammaglobulinemia','A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.'),('HP:0004433','Secretory IgA deficiency','Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.'),('HP:0004434','C8 deficiency','A reduced level of the complement component C8 in circulation.'),('HP:0004437','Cranial hyperostosis','Excessive growth of the bones of cranium, i.e., of the skull.'),('HP:0004438','Hyperostosis frontalis interna','Bony overgrowth of the internal (endosteal) surface of the frontal bone.'),('HP:0004439','Craniofacial dysostosis','A characteristic appearance resulting from defective ossification of craniofacial bones.'),('HP:0004440','Coronal craniosynostosis','Premature closure of the coronal suture of skull.'),('HP:0004442','Sagittal craniosynostosis','A kind of craniosynostosis affecting the sagittal suture.'),('HP:0004443','Lambdoidal craniosynostosis','A kind of craniosynostosis affecting the lambdoidal suture.'),('HP:0004444','Spherocytosis','The presence of erythrocytes that are sphere-shaped.'),('HP:0004445','Elliptocytosis','The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.'),('HP:0004446','Stomatocytosis','The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.'),('HP:0004447','Poikilocytosis','The presence of abnormally shaped erythrocytes.'),('HP:0004448','Fulminant hepatic failure','Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.'),('HP:0004450','Preauricular skin furrow','A groove of the skin immediately in front of the ear.'),('HP:0004451','Postauricular skin tag','A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).'),('HP:0004452','Abnormality of the middle ear ossicles','An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).'),('HP:0004453','Overfolding of the superior helices','A condition in which the superior portion of the helix is folded over to a greater degree than normal.'),('HP:0004454','Abnormal middle ear reflexes',''),('HP:0004458','Dilatated internal auditory canal','The presence of a dilated inner part of external acoustic meatus.'),('HP:0004459','Exostosis of the external auditory canal','A benign bony growth projecting outward from a bone surface within the external auditory canal.'),('HP:0004461','Congenital earlobe sinuses','Pits in the earlobes at the location where ears are typically pierced for earrings.'),('HP:0004463','Absent brainstem auditory responses','Lack of measurable response to stimulation of auditory evoked potentials.'),('HP:0004464','Postauricular pit','Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.'),('HP:0004466','Prolonged brainstem auditory evoked potentials',''),('HP:0004467','Preauricular pit','Small indentation anterior to the insertion of the ear.'),('HP:0004468','Anomalous tracheal cartilage','An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).'),('HP:0004469','Chronic bronchitis','Chronic inflammation of the bronchi.'),('HP:0004470','Atretic occipital cephalocele','A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.'),('HP:0004471','Aplasia cutis congenita over the scalp vertex','A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.'),('HP:0004472','Mandibular hyperostosis','Hyperostosis (bony overgrowth) of the mandible.'),('HP:0004474','Persistent open anterior fontanelle','The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.'),('HP:0004476','Aplasia cutis congenita over parietal area','A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.'),('HP:0004478','Ethmoidal encephalocele',''),('HP:0004481','Progressive macrocephaly','The progressive development of an abnormally large skull.'),('HP:0004482','Relative macrocephaly','A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.'),('HP:0004484','Craniofacial asymmetry','Asymmetry of the bones of the skull and the face.'),('HP:0004485','Cessation of head growth','Stagnation of head growth seen as flattening of the head circumference curve.'),('HP:0004487','Acrobrachycephaly','An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.'),('HP:0004488','Macrocephaly at birth','The presence of an abnormally large skull with onset at birth.'),('HP:0004490','Calvarial hyperostosis','Excessive growth of the calvaria.'),('HP:0004491','Large posterior fontanelle','An enlargement of the posterior fontanelle relative to age-dependent norms.'),('HP:0004492','Widely patent fontanelles and sutures','An abnormally increased width of the cranial fontanelles and sutures.'),('HP:0004493','Craniofacial hyperostosis','Excessive growth of the craniofacial bones.'),('HP:0004495','Thin anteverted nares',''),('HP:0004496','Posterior choanal atresia','Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).'),('HP:0004499','Chronic rhinitis due to narrow nasal airway',''),('HP:0004502','Bilateral choanal atresia','Bilateral absence (atresia) of the posterior nasal aperture (choana).'),('HP:0004510','Pancreatic islet-cell hyperplasia','Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.'),('HP:0004523','Long eyebrows','Increased length of the hairs of the eyebrows.'),('HP:0004524','Temporal hypotrichosis','Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).'),('HP:0004527','Large clumps of pigment irregularly distributed along hair shaft',''),('HP:0004528','Generalized hypotrichosis','Reduced or lacking hair growth in a generalized distribution.'),('HP:0004529','Atrophic, patchy alopecia',''),('HP:0004532','Sacral hypertrichosis','Excessive, increased hair growth located in the sacral region.'),('HP:0004535','Anterior cervical hypertrichosis','Anterior cervical hypertrichosis (ACH) or `hairy throat` refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.'),('HP:0004540','Congenital, generalized hypertrichosis','A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.'),('HP:0004544','obsolete Pointed frontal hairline',''),('HP:0004552','Scarring alopecia of scalp',''),('HP:0004554','Generalized hypertrichosis','Generalized excessive, abnormal hairiness.'),('HP:0004557','Anterior vertebral fusion',''),('HP:0004558','Cervical platyspondyly','A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.'),('HP:0004562','Beaking of vertebral bodies T12-L3',''),('HP:0004563','Increased spinal bone density','Increased bone density affecting the bones of the spine (vertebral column).'),('HP:0004565','Severe platyspondyly',''),('HP:0004566','Pear-shaped vertebrae','Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.'),('HP:0004568','Beaking of vertebral bodies','Anterior tongue-like protrusions of the vertebral bodies.'),('HP:0004570','Increased vertebral height','Increased top to bottom height of vertebral bodies.'),('HP:0004571','Widening of cervical spinal canal',''),('HP:0004573','Anterior wedging of T11','An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).'),('HP:0004575','Fusion of midcervical facet joints',''),('HP:0004576','Sclerotic vertebral endplates','Sclerosis (increased density) affecting vertebral end plates.'),('HP:0004580','Anterior scalloping of vertebral bodies','An excessive concavity of the anterior surface of one or more vertebral bodies.'),('HP:0004581','Increased anterior vertebral height',''),('HP:0004582','Irregularity of vertebral bodies',''),('HP:0004586','Biconcave vertebral bodies','Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.'),('HP:0004589','Dysplasia of second lumbar vertebra',''),('HP:0004590','Hypoplastic sacrum',''),('HP:0004591','Disc-like vertebral bodies',''),('HP:0004592','Thoracic platyspondyly','A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.'),('HP:0004594','Hump-shaped mound of bone in central and posterior portions of vertebral endplate',''),('HP:0004598','Supernumerary vertebral ossification centers','Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.'),('HP:0004599','Absent or minimally ossified vertebral bodies',''),('HP:0004601','Spina bifida occulta at L5','The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.'),('HP:0004602','Cervical C2/C3 vertebral fusion','Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.'),('HP:0004603','Hyperconvex vertebral body endplates',''),('HP:0004605','Absent vertebral body mineralization','A lack of bone mineralization of the vertebral bodies.'),('HP:0004606','Unossified vertebral bodies','A lack of ossification of the vertebral bodies.'),('HP:0004607','Anterior beaking of lower thoracic vertebrae','Anterior tongue-like protrusions of the lower thoracic vertebral bodies.'),('HP:0004608','Anteriorly placed odontoid process','Anterior mislocalization of the dens of the axis.'),('HP:0004609','Patchy distortion of vertebrae',''),('HP:0004610','Lumbar spinal canal stenosis','An abnormal narrowing of the lumbar spinal canal.'),('HP:0004611','Anterior concavity of thoracic vertebrae',''),('HP:0004614','Spina bifida occulta at S1','The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.'),('HP:0004616','Cleft vertebral arch','A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.'),('HP:0004617','Butterfly vertebral arch','Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.'),('HP:0004618','Sandwich appearance of vertebral bodies',''),('HP:0004619','Lumbar kyphoscoliosis',''),('HP:0004621','Enlarged vertebral pedicles','Increased size of the vertebral pedicle.'),('HP:0004622','Progressive intervertebral space narrowing','A progressive form of decreased height of the intervertebral disk.'),('HP:0004625','Biconvex vertebral bodies','Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.'),('HP:0004626','Lumbar scoliosis',''),('HP:0004629','Small cervical vertebral bodies','Reduced size of cervical vertebrae.'),('HP:0004630','Anterior beaking of thoracic vertebrae','Anterior tongue-like protrusions of thoracic vertebral bodies.'),('HP:0004631','Decreased cervical spine flexion due to contractures of posterior cervical muscles',''),('HP:0004632','Cervical segmentation defect','An abnormality related to a defect of vertebral separation of cervical vertebrae during development.'),('HP:0004633','Lower thoracic kyphosis','Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.'),('HP:0004634','Cuboid-shaped vertebral bodies',''),('HP:0004635','Cervical C5/C6 vertebrae fusion','Fusion of the C5 and C6 cervical vertebrae.'),('HP:0004637','Decreased cervical spine mobility',''),('HP:0004639','Elevated amniotic fluid alpha-fetoprotein','An elevation of alpha-feto protein measured in the amniotic fluid.'),('HP:0004646','Hypoplasia of the nasal bone','Underdevelopment of the nasal bone.'),('HP:0004660','Hypoplasia of facial musculature','Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0004661','Frontalis muscle weakness','Reduced strength of the frontalis muscle (which is located on the forehead).'),('HP:0004664','Facial midline hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.'),('HP:0004673','Decreased facial expression','A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.'),('HP:0004676','Prominent supraorbital arches in adult',''),('HP:0004679','Large tarsal bones',''),('HP:0004681','Deep longitudinal plantar crease','Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.'),('HP:0004684','Talipes valgus','Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.'),('HP:0004686','Short third metatarsal','Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.'),('HP:0004688','Irregular tarsal bones',''),('HP:0004689','Short fourth metatarsal','Short fourth metatarsal bone.'),('HP:0004690','Thickened Achilles tendon','An abnormal thickening of the Achilles tendon.'),('HP:0004691','2-3 toe syndactyly','Syndactyly with fusion of toes two and three.'),('HP:0004692','4-5 toe syndactyly','Syndactyly with fusion of toes four and five.'),('HP:0004695','Calcaneal epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.'),('HP:0004696','Talipes cavus equinovarus',''),('HP:0004699','Osteoporotic metatarsal','Decrease in mass and density of the metatarsal bones.'),('HP:0004704','Short fifth metatarsal','Short (hypoplastic) fifth metatarsal bone.'),('HP:0004712','Renal malrotation','An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.'),('HP:0004713','Reversible renal failure','Acute renal failure with resolution of manifestations.'),('HP:0004717','Axial malrotation of the kidney','An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.'),('HP:0004719','Hyperechogenic kidneys','An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.'),('HP:0004722','Thickening of the glomerular basement membrane','Increase in thickness of the basal lamina of the glomerulus of the kidney.'),('HP:0004724','Calcium nephrolithiasis','The presence of calcium-containing calculi (stones) in the kidneys.'),('HP:0004727','Impaired renal concentrating ability','A defect in the ability to concentrate the urine.'),('HP:0004729','Acute tubulointerstitial nephritis','Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.'),('HP:0004732','Impaired renal uric acid clearance','A reduction in the ability of the kidneys to remove uric acid from the serum.'),('HP:0004734','Renal cortical microcysts','Cysts of microscopic size confined to the cortex of the kidney.'),('HP:0004736','Crossed fused renal ectopia','A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.'),('HP:0004737','Global glomerulosclerosis','Complete and diffuse scarring of glomerulus.'),('HP:0004742','Abnormal renal collecting system morphology','An abnormality of the renal collecting system.'),('HP:0004743','Chronic tubulointerstitial nephritis','Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.'),('HP:0004746','Glomerular subendothelial electron-dense deposits','Electron dense deposits at the glomerular basement membrane,'),('HP:0004749','Atrial flutter','A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.'),('HP:0004751','Paroxysmal ventricular tachycardia','Episodes of ventricular tachycardia that have a sudden onset and ending.'),('HP:0004752','Congenital atrioventricular dissociation','A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.'),('HP:0004754','Permanent atrial fibrillation','AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.'),('HP:0004755','Supraventricular tachycardia','Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.'),('HP:0004756','Ventricular tachycardia','A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).'),('HP:0004757','Paroxysmal atrial fibrillation','Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.'),('HP:0004758','Effort-induced polymorphic ventricular tachycardia','Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.'),('HP:0004759','obsolete Nodular calcific aortic valve disease',''),('HP:0004760','obsolete Congenital septal defect',''),('HP:0004761','Post-angioplasty coronary artery restenosis',''),('HP:0004762','Hypoplasia of right ventricle','Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.'),('HP:0004763','Paroxysmal supraventricular tachycardia','An episodic form of supraventricular tachycardia with abrupt onset and termination.'),('HP:0004764','Myxomatous mitral valve degeneration','Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.'),('HP:0004768','Sparse anterior scalp hair','Decreased number of head hairs per unit area on the anterior region of the scalp.'),('HP:0004771','Premature graying of body hair',''),('HP:0004779','Brittle scalp hair','Fragile, easily breakable scalp hair.'),('HP:0004780','Elbow hypertrichosis','Excessive, increased hair growth located in the elbow region.'),('HP:0004782','obsolete Hypotrichosis of the scalp',''),('HP:0004783','Duodenal polyposis','Presence of multiple polyps in the duodenum.'),('HP:0004784','Juvenile gastrointestinal polyposis','The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.'),('HP:0004785','Malrotation of colon','An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.'),('HP:0004786','Jejunal diverticula',''),('HP:0004787','Fulminant hepatitis','Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.'),('HP:0004788','Intestinal lymphedema','Fluid retention and edema in the intestine caused by a compromised lymphatic system.'),('HP:0004789','Lactose intolerance','An inability to digest lactose.'),('HP:0004790','Hypoplasia of the small intestine','Underdevelopment of the small intestine.'),('HP:0004791','Esophageal ulceration','Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.'),('HP:0004792','Rectoperineal fistula','The presence of a fistula between the perineum and the rectum.'),('HP:0004794','Malrotation of small bowel','A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.'),('HP:0004795','Hamartomatous stomach polyps','Polyp-like protrusions which are histologically hamartomas located in the stomach.'),('HP:0004796','Gastrointestinal obstruction',''),('HP:0004797','Multiple small bowel atresias','The presence of multiple areas of atresia affecting the small intestine.'),('HP:0004798','Recurrent infection of the gastrointestinal tract','Recurrent infection of the gastrointestinal tract.'),('HP:0004799','Jejunoileal diverticula',''),('HP:0004800','Duodenal diverticula',''),('HP:0004802','Episodic hemolytic anemia','A form of hemolytic anemia that occurs in repeated episodes.'),('HP:0004804','Congenital hemolytic anemia','A form of hemolytic anemia with congenital onset.'),('HP:0004808','Acute myeloid leukemia','A form of leukemia characterized by overproduction of an early myeloid cell.'),('HP:0004809','Neonatal alloimmune thrombocytopenia','Low platelet count associated with maternal platelet-specific alloantibodies.'),('HP:0004810','Congenital hypoplastic anemia','A type of hypoplastic anemia with congenital onset.'),('HP:0004812','B Acute Lymphoblastic Leukemia','A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.'),('HP:0004813','Post-transfusion thrombocytopenia','Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.'),('HP:0004814','Fava bean-induced hemolytic anemia','A kind of hemolytic anemia that is induced by the ingestion of fava beans.'),('HP:0004817','Drug-sensitive hemolytic anemia','A form of hemolytic anemia that is triggered by ingestion of certain drugs.'),('HP:0004818','Paroxysmal nocturnal hemoglobinuria',''),('HP:0004819','Normocytic hypoplastic anemia','A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).'),('HP:0004820','Acute myelomonocytic leukemia','An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.'),('HP:0004821','Hypersegmentation of neutrophil nuclei','An excessive division of the lobes of the nucleus of a neutrophil.'),('HP:0004822','Atypical elliptocytosis',''),('HP:0004823','Anisopoikilocytosis','A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.'),('HP:0004825','Increased hemoglobin oxygen affinity','An abnormal increase in the binding affinity of hemoglobin for oxygen.'),('HP:0004826','Folate-unresponsive megaloblastic anemia','A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.'),('HP:0004828','Refractory anemia with ringed sideroblasts','A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.'),('HP:0004831','Recurrent thromboembolism','Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.'),('HP:0004835','Microspherocytosis','The presence of erythrocytes that are sphere-shaped and reduced in size.'),('HP:0004836','Acute promyelocytic leukemia','A type of acute myeloid leukemia in which abnormal promyelocytes predominate.'),('HP:0004839','Pyropoikilocytosis','A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.'),('HP:0004840','Hypochromic microcytic anemia','A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.'),('HP:0004841','Reduced factor XII activity','Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.'),('HP:0004844','Coombs-positive hemolytic anemia','A type of hemolytic anemia in which the Coombs test is positive.'),('HP:0004845','Acute monocytic leukemia','The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.'),('HP:0004846','Prolonged bleeding after surgery','Bleeding that persists longer than the normal time following a surgical procedure.'),('HP:0004848','Ph-positive acute lymphoblastic leukemia','A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.'),('HP:0004850','Recurrent deep vein thrombosis','Repeated episodes of the formation of a blot clot in a deep vein.'),('HP:0004851','Folate-responsive megaloblastic anemia','A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.'),('HP:0004852','Reduced leukocyte alkaline phosphatase','Decreased alkaline phosphatase measured within leukocytes.'),('HP:0004854','Intermittent thrombocytopenia','Reduced platelet count that occurs sporadically, i.e., it comes and goes.'),('HP:0004855','Reduced protein S activity','An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.'),('HP:0004856','Normochromic microcytic anemia','A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.'),('HP:0004857','Hyperchromic macrocytic anemia','A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.'),('HP:0004859','Amegakaryocytic thrombocytopenia','Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.'),('HP:0004860','Thiamine-responsive megaloblastic anemia','A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.'),('HP:0004861','Refractory macrocytic anemia',''),('HP:0004863','Compensated hemolytic anemia',''),('HP:0004864','Refractory sideroblastic anemia','A type of sideroblastic anemia that is not responsive to treatment.'),('HP:0004866','Impaired ADP-induced platelet aggregation','Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.'),('HP:0004870','Chronic hemolytic anemia','An chronic form of hemolytic anemia.'),('HP:0004871','Perineal fistula','The presence of a fistula between the bowel and the perineum.'),('HP:0004872','Incisional hernia','An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.'),('HP:0004875','Neonatal inspiratory stridor',''),('HP:0004876','Spontaneous neonatal pneumothorax','Pneumothorax occurring neonatally without traumatic injury to the chest or lung.'),('HP:0004878','Intercostal muscle weakness','Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.'),('HP:0004879','Intermittent hyperventilation','Episodic hyperventilation.'),('HP:0004880','Respiratory infections in early life','Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.'),('HP:0004881','Episodic hypoventilation',''),('HP:0004885','Episodic respiratory distress',''),('HP:0004886','Congenital laryngeal stridor',''),('HP:0004887','Respiratory failure requiring assisted ventilation','A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.'),('HP:0004889','Intermittent episodes of respiratory insufficiency due to muscle weakness',''),('HP:0004890','Elevated pulmonary artery pressure','An abnormally elevated blood pressure in the circulation of the pulmonary artery.'),('HP:0004891','Recurrent infections due to aspiration','Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.'),('HP:0004894','Laryngotracheal stenosis',''),('HP:0004897','Stress/infection-induced lactic acidosis','A form of lactic acidemia that occurs in relation to stress or infection.'),('HP:0004898','Persistent lactic acidosis','A continuous form of lactic acidemia.'),('HP:0004900','Severe lactic acidosis','A severe form of lactic acidemia.'),('HP:0004901','Exercise-induced lactic acidemia','A form of lactic acidemia that occurs following exercise or exertion.'),('HP:0004902','Congenital lactic acidosis','A form of lactic acidemia with congenital onset.'),('HP:0004904','Maturity-onset diabetes of the young','The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.'),('HP:0004905','Low levels of vitamin A','A reduced concentration of vitamin A.'),('HP:0004906','Hypernatremic dehydration',''),('HP:0004909','Hypokalemic hypochloremic metabolic alkalosis',''),('HP:0004910','Bicarbonate-wasting renal tubular acidosis',''),('HP:0004911','Episodic metabolic acidosis','Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.'),('HP:0004912','Hypophosphatemic rickets',''),('HP:0004913','Intermittent lactic acidemia','An intermittent (discontinuous) form of lactic acidemia.'),('HP:0004914','Recurrent infantile hypoglycemia','Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.'),('HP:0004915','Impairment of galactose metabolism','An impairment of galactose metabolism.'),('HP:0004916','Generalized distal tubular acidosis',''),('HP:0004918','Hyperchloremic metabolic acidosis',''),('HP:0004919','Galactose intolerance',''),('HP:0004920','Phenylpyruvic acidemia',''),('HP:0004921','Abnormal magnesium concentration','An abnormality of magnesium ion homeostasis.'),('HP:0004922','Atypical hyperphenylalaninemia',''),('HP:0004923','Hyperphenylalaninemia','An increased concentration of L-phenylalanine in the blood.'),('HP:0004924','Abnormal oral glucose tolerance','An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.'),('HP:0004925','Chronic lactic acidosis','A chronic form of lactic acidemia.'),('HP:0004926','Orthostatic hypotension due to autonomic dysfunction',''),('HP:0004927','Pulmonary artery dilatation','An abnormal widening of the diameter of the pulmonary artery.'),('HP:0004928','obsolete Peripheral arterial stenosis',''),('HP:0004929','obsolete Coronary atherosclerosis',''),('HP:0004930','Abnormality of the pulmonary vasculature',''),('HP:0004931','Arteriosclerosis of small cerebral arteries','Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.'),('HP:0004933','Ascending aortic dissection','A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.'),('HP:0004934','Vascular calcification','Abnormal calcification of the vasculature.'),('HP:0004935','Pulmonary artery atresia','A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.'),('HP:0004936','Venous thrombosis','Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.'),('HP:0004937','Pulmonary artery aneurysm','An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.'),('HP:0004938','Tortuous cerebral arteries','Excessive bending, twisting, and winding of a cerebral artery.'),('HP:0004940','Generalized arterial calcification','Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.'),('HP:0004941','Extrahepatic portal hypertension','Increased pressure in the pre-hepatic portal vein.'),('HP:0004942','Aortic aneurysm','Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.'),('HP:0004943','Accelerated atherosclerosis','Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.'),('HP:0004944','Dilatation of the cerebral artery','The presence of a localized dilatation or ballooning of a cerebral artery.'),('HP:0004945','Extracranial internal carotid artery dissection','A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.'),('HP:0004947','Arteriovenous fistula','An abnormal connection between an artery and vein.'),('HP:0004948','Vascular tortuosity','Abnormal twisting of arteries or veins.'),('HP:0004950','Peripheral arterial stenosis','Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.'),('HP:0004952','Pulmonary arteriovenous fistulas','A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.'),('HP:0004953','obsolete Dilatation of abdominal aorta',''),('HP:0004954','obsolete Dilatation of the descending aorta',''),('HP:0004955','Generalized arterial tortuosity','Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.'),('HP:0004959','Descending thoracic aorta aneurysm','An abnormal localized widening (dilatation) of the descending thoracic aorta.'),('HP:0004960','Absent pulmonary artery','A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.'),('HP:0004961','Pulmonary artery sling','An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.'),('HP:0004962','Thoracic aorta calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.'),('HP:0004963','Calcification of the aorta','Calcification, that is, pathological deposition of calcium salts in the aorta.'),('HP:0004964','Pulmonary arterial medial hypertrophy','Increase in mass of the tunica media of the arteries in the pulmonary circulation.'),('HP:0004966','Medial calcification of large arteries','Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.'),('HP:0004968','Recurrent cerebral hemorrhage','Recurrent bleeding into the parenchyma of the brain.'),('HP:0004969','Peripheral pulmonary artery stenosis','Stenosis of a peripheral branch of the pulmonary artery.'),('HP:0004970','Ascending tubular aorta aneurysm','An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.'),('HP:0004971','Pulmonary artery hypoplasia','Underdevelopment of the pulmonary artery.'),('HP:0004972','Elevated mean arterial pressure','An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.'),('HP:0004974','Coarctation of abdominal aorta','Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.'),('HP:0004975','Erlenmeyer flask deformity of the femurs','Flaring of distal femur.'),('HP:0004976','Knee dislocation',''),('HP:0004977','Bilateral radial aplasia','Missing radius bone on both sides associated with congenital failure of development.'),('HP:0004979','Metaphyseal sclerosis','Abnormally increased density of metaphyseal bone.'),('HP:0004980','Metaphyseal rarefaction','Reduction in density of metaphyseal bony tissue.'),('HP:0004981','Prominent styloid process of ulna',''),('HP:0004986','obsolete Rudimentary to absent fibulae',''),('HP:0004987','Mesomelic leg shortening','Shortening of the middle parts of the leg in relation to the upper and terminal segments.'),('HP:0004990','Epiphyseal streaking',''),('HP:0004991','Rhizomelic arm shortening','Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).'),('HP:0004993','Slender long bones with narrow diaphyses','Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.'),('HP:0004997','Multicentric ossification of proximal humeral epiphyses',''),('HP:0005001','Recurrent patellar dislocation','Patellar dislocation occurring repeated times.'),('HP:0005003','Aplasia/Hypoplasia of the capital femoral epiphysis','Absence or underdevelopment of the proximal epiphysis of the femur.'),('HP:0005004','Flattened proximal radial epiphyses','An abnormally flat form of the proximal epiphysis of the radius.'),('HP:0005005','Femoral bowing present at birth, straightening with time','Congenital onset bending or abnormal curvature of the femur that normalizes with age.'),('HP:0005008','Large joint dislocations',''),('HP:0005009','Dumbbell-shaped humerus','The humerus is shortened and displays flaring (widening) of the metaphyses.'),('HP:0005010','Osteomyelitis leading to amputation due to slow healing fractures',''),('HP:0005011','Mesomelic arm shortening','Shortening of the middle parts of the arm in relation to the upper and terminal segments.'),('HP:0005013','Dysplastic distal radial epiphyses','Abnormally developed (dysplastic) distal epiphysis of the radius.'),('HP:0005017','Polyarticular chondrocalcinosis',''),('HP:0005019','Diaphyseal thickening',''),('HP:0005021','Bilateral elbow dislocations',''),('HP:0005025','Hypoplastic distal humeri','Underdevelopment of the distal portion of the humerus.'),('HP:0005026','Mesomelic/rhizomelic limb shortening',''),('HP:0005028','Widened proximal tibial metaphyses',''),('HP:0005033','Distal ulnar hypoplasia','Underdevelopment of the distal portion of the ulna.'),('HP:0005035','Shortening of all phalanges of the toes','Developmental hypoplasia (shortening) of all phalanges of the foot.'),('HP:0005036','Unilateral ulnar hypoplasia','Underdevelopment of the ulna on only one side.'),('HP:0005037','Proximal radio-ulnar synostosis','An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.'),('HP:0005039','Multiple long-bone exostoses','Multiple exostoses originating in long bones.'),('HP:0005041','Irregular capital femoral epiphysis','Irregular surface of the normally relatively smooth capital femoral epiphysis.'),('HP:0005042','Irregular, rachitic-like metaphyses',''),('HP:0005043','Proximal humeral metaphyseal irregularity','Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).'),('HP:0005045','Diaphyseal cortical sclerosis','An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0005048','Synostosis of carpal bones',''),('HP:0005050','Anterolateral radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.'),('HP:0005054','Metaphyseal spurs','Bony outgrowths that extend laterally from the margin of the metaphysis.'),('HP:0005059','Arthralgia/arthritis',''),('HP:0005060','Limited elbow flexion/extension',''),('HP:0005063','Fragmented, irregular epiphyses',''),('HP:0005066','Cone-shaped epiphyses fused within their metaphyses',''),('HP:0005067','Proximal fibular overgrowth','Overgrowth of the proximal part of the fibula.'),('HP:0005068','Absent styloid process of ulna',''),('HP:0005069','Rhizo-meso-acromelic limb shortening',''),('HP:0005070','Proximal radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.'),('HP:0005072','Hyperextensibility at wrists','The ability of the wrist joints to move beyond their normal range of motion.'),('HP:0005084','Anterior radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.'),('HP:0005085','Limited knee flexion/extension','A limited ability of the knee joint extension and flexion.'),('HP:0005086','Knee osteoarthritis',''),('HP:0005089','Abnormal metaphyseal trabeculation','An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.'),('HP:0005090','Lateral femoral bowing','A lateral bending or abnormal curvature of the femur.'),('HP:0005092','Streaky metaphyseal sclerosis','The presence of streaks (bands) of abnormally increased density of metaphyseal bone.'),('HP:0005093','Absent proximal radial epiphyses','Absence of the proximal radial epiphysis.'),('HP:0005096','Distal femoral bowing','A bending or abnormal curvature of the distal portion of the femur.'),('HP:0005099','Severe hydrops fetalis',''),('HP:0005100','Premature birth following premature rupture of fetal membranes',''),('HP:0005101','High-frequency hearing impairment','A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).'),('HP:0005102','Cochlear degeneration','Deterioration or loss of the tissues of the cochlea.'),('HP:0005103','Calcification of the auricular cartilage','Ossification affecting the external ear cartilage.'),('HP:0005104','Hypoplastic nasal septum','Underdevelopment of the nasal septum.'),('HP:0005105','Abnormal nasal morphology',''),('HP:0005106','Abnormality of the vertebral endplates','Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.'),('HP:0005107','Abnormal sacrum morphology','An abnormality of the sacral bone.'),('HP:0005108','Abnormality of the intervertebral disk','An abnormality of the intervertebral disk.'),('HP:0005109','Abnormality of the Achilles tendon','An abnormality of the Achilles tendon.'),('HP:0005110','Atrial fibrillation','An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.'),('HP:0005111','obsolete Dilatation of the ascending aorta',''),('HP:0005112','Abdominal aortic aneurysm','An abnormal localized widening (dilatation) of the abdominal aorta.'),('HP:0005113','Aortic arch aneurysm','An abnormal localized widening (dilatation) of the aortic arch.'),('HP:0005114','obsolete Abnormalities of the peripheral arteries',''),('HP:0005115','Supraventricular arrhythmia','A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.'),('HP:0005116','Arterial tortuosity','Abnormal tortuous (i.e., twisted) form of arteries.'),('HP:0005117','Elevated diastolic blood pressure','Abnormal increase in diastolic blood pressure.'),('HP:0005120','Abnormal cardiac atrium morphology','Any structural abnormality of a cardiac atrium.'),('HP:0005121','Posterior scalloping of vertebral bodies','An excessive concavity of the posterior surface of one or more vertebral bodies.'),('HP:0005129','Congenital hypertrophy of left ventricle',''),('HP:0005130','obsolete Restrictive heart failure',''),('HP:0005132','Pericardial constriction','Compression of the heart caused by rigid, thickened, or fused pericardial membranes.'),('HP:0005133','Right ventricular dilatation','Enlargement of the chamber of the right ventricle.'),('HP:0005134','Absence of the pulmonary valve','Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.'),('HP:0005135','Abnormal T-wave','An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.'),('HP:0005136','Mitral annular calcification','Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.'),('HP:0005141','obsolete Episodes of ventricular tachycardia',''),('HP:0005143','Anomalous origin of right pulmonary artery from ascending aorta','The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.'),('HP:0005144','Ventricular septal hypertrophy','The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.'),('HP:0005145','Coronary artery stenosis','Abnormal narrowing of the coronary artery.'),('HP:0005146','Cardiac valve calcification','Abnormal calcification of a cardiac valve.'),('HP:0005147','Bidirectional ventricular ectopy',''),('HP:0005148','Pulmonary valve defects','Any defect in the valve connecting the heart and the pulmonary artery.'),('HP:0005150','Abnormal atrioventricular conduction','An impairment of the electrical continuity between the atria and ventricles.'),('HP:0005151','Preductal coarctation of the aorta','Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.'),('HP:0005152','Histiocytoid cardiomyopathy','A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.'),('HP:0005155','Ventricular escape rhythm','A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).'),('HP:0005156','Hypoplastic left atrium','Underdeveloped, small left heart atrium'),('HP:0005157','Concentric hypertrophic cardiomyopathy','Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.'),('HP:0005160','Total anomalous pulmonary venous return','Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.'),('HP:0005162','Left ventricular dysfunction','Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.'),('HP:0005164','Dysplastic pulmonary valve','A congenital malformation of the pulmonary valve characterized by leaflet deformation.'),('HP:0005165','Shortened PR interval','Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.'),('HP:0005168','Elevated right atrial pressure','An abnormal increase in magnitude of the pressure in the right atrium.'),('HP:0005170','Complete heart block with broad QRS complexes','A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.'),('HP:0005172','Left posterior fascicular block','Conduction block in the posterior division of the left bundle branch of the bundle of His.'),('HP:0005173','obsolete Calcific aortic valve stenosis',''),('HP:0005174','Membranous subvalvular aortic stenosis','Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.'),('HP:0005176','Dysplastic aortic valve','A congenital malformation of the aortic valve characterized by leaflet deformation.'),('HP:0005177','Premature arteriosclerosis','Arteriosclerosis occurring at an age that is younger than usual.'),('HP:0005178','Complete heart block with narrow QRS complexes','A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.'),('HP:0005180','Tricuspid regurgitation','Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.'),('HP:0005181','Premature coronary artery atherosclerosis','Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.'),('HP:0005182','Bicuspid pulmonary valve','The presence of a bicuspid pulmonary valve.'),('HP:0005183','Pericardial lymphangiectasia','An abnormal dilatation of lymph vessels in the pericardium.'),('HP:0005184','Prolonged QTc interval','A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart`s cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.'),('HP:0005185','Global systolic dysfunction','A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.'),('HP:0005186','Synovial hypertrophy',''),('HP:0005187','Progressive joint destruction',''),('HP:0005190','Proximal finger joint hyperextensibility',''),('HP:0005191','Congenital knee dislocation',''),('HP:0005193','Restricted large joint movement',''),('HP:0005194','Flattened metatarsal heads','Abnormally flat shape of the heads of the metatarsal bones.'),('HP:0005195','Polyarticular arthropathy',''),('HP:0005197','Generalized morning stiffness','A sensation of stiffness in the joints that occurs following waking up in the morning.'),('HP:0005198','Stiff interphalangeal joints','Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.'),('HP:0005199','Aplasia of the abdominal wall musculature','Absence of the abdominal musculature.'),('HP:0005200','Retroperitoneal fibrosis',''),('HP:0005201','Anomalous splenoportal venous system',''),('HP:0005202','Helicobacter pylori infection','A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.'),('HP:0005203','Spontaneous esophageal perforation','The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.'),('HP:0005206','Pancreatic pseudocyst','Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.'),('HP:0005207','Gastric hypertrophy','Hypertrophy of the stomach.'),('HP:0005208','Secretory diarrhea','Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.'),('HP:0005209','Intrahepatic bile duct cysts','The presence of cyst of the intrahepatic bile duct.'),('HP:0005210','Hypoplastic colon','Underdevelopment of the colon.'),('HP:0005211','Midgut malrotation',''),('HP:0005212','Anal mucosal leukoplakia','Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized` patches in the anal canal. Tissue biopsy is necessary for confirmation.'),('HP:0005213','Pancreatic calcification','The presence of abnormal calcium deposition lesions in the pancreas.'),('HP:0005214','Intestinal obstruction','Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.'),('HP:0005215','Frequent Giardia lamblia infestation','Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.'),('HP:0005216','Impaired mastication','An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.'),('HP:0005217','Duplication of internal organs',''),('HP:0005218','Anoperineal fistula','The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.'),('HP:0005219','Absence of intrinsic factor','Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.'),('HP:0005220','Multiple intestinal neurofibromatosis',''),('HP:0005222','Bowel diverticulosis','The presence of multiple diverticula of the intestine.'),('HP:0005223','Duplicated colon',''),('HP:0005224','Rectal abscess','A collection of pus in the area of the rectum.'),('HP:0005225','Intestinal edema','Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.'),('HP:0005227','Adenomatous colonic polyposis','Presence of multiple adenomatous polyps in the colon.'),('HP:0005229','Jejunoileal ulceration',''),('HP:0005230','Biliary tract obstruction','Obstruction affecting the biliary tree.'),('HP:0005231','Chronic gastritis','A chronic form of gastritis.'),('HP:0005232','Pancreatic dysplasia','The presence of developmental dysplasia of the pancreas.'),('HP:0005233','Hypoplasia of the gallbladder','The presence of a hypoplastic gallbladder.'),('HP:0005234','Neonatal intestinal obstruction',''),('HP:0005235','Jejunal atresia','A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.'),('HP:0005236','Chronic calcifying pancreatitis','A form of chronic pancreatitis that is characterized by calcification.'),('HP:0005237','Degenerative liver disease','The presence of degenerative changes of the liver.'),('HP:0005238','Discrete intestinal polyps',''),('HP:0005240','Esophageal obstruction',''),('HP:0005241','Total intestinal aganglionosis','A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.'),('HP:0005242','Extrahepatic biliary duct atresia','Atresia in the extrahepatic bile duct.'),('HP:0005243','Partial abdominal muscle agenesis','Failure to form of portions of the abdominal musculature.'),('HP:0005244','Gastrointestinal infarctions',''),('HP:0005245','Intestinal hypoplasia','Developmental hypoplasia of the intestine.'),('HP:0005246','Giant hypertrophic gastritis','A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.'),('HP:0005247','Hypoplasia of the abdominal wall musculature','Underdevelopment of the abdominal musculature.'),('HP:0005248','Intrahepatic biliary atresia','Atresia in the intrahepatic bile duct.'),('HP:0005249','Functional intestinal obstruction',''),('HP:0005250','High intestinal obstruction',''),('HP:0005253','Increased anterioposterior diameter of thorax',''),('HP:0005254','Unilateral chest hypoplasia',''),('HP:0005255','Absence of pectoralis minor muscle','Aplasia (congenital absence) of the pectoralis minor.'),('HP:0005256','Unilateral absence of pectoralis major muscle','Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.'),('HP:0005257','Thoracic hypoplasia',''),('HP:0005258','Pectoral muscle hypoplasia/aplasia',''),('HP:0005259','Abnormal facility in opposing the shoulders',''),('HP:0005261','Joint hemorrhage','Hemorrhage occurring within a joint.'),('HP:0005262','Abnormality of the synovia',''),('HP:0005263','Gastritis','The presence of inflammation of the gastric mucous membrane.'),('HP:0005264','Abnormality of the gallbladder','An abnormality of the gallbladder.'),('HP:0005265','Abnormality of the jejunum','An abnormality of the jejunum, i.e., of the middle section of the small intestine.'),('HP:0005266','Intestinal polyp','A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.'),('HP:0005267','Premature delivery because of cervical insufficiency or membrane fragility',''),('HP:0005268','Spontaneous abortion','A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy.'),('HP:0005272','Prominent nasolabial fold','Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).'),('HP:0005273','Absent nasal septal cartilage','Lack of the cartilage of the nasal septum.'),('HP:0005274','Prominent nasal tip',''),('HP:0005275','Cartilaginous ossification of nose',''),('HP:0005278','Hypoplastic nasal tip',''),('HP:0005280','Depressed nasal bridge','Posterior positioning of the nasal root in relation to the overall facial profile for age.'),('HP:0005281','Hypoplastic nasal bridge',''),('HP:0005285','Absent nasal bridge',''),('HP:0005288','Abnormality of the nares','Abnormality of the nostril.'),('HP:0005289','Abnormality of the nasolabial region',''),('HP:0005290','Internal carotid artery hypoplasia',''),('HP:0005291','Inflammatory arteriopathy',''),('HP:0005292','Intimal thickening in the coronary arteries',''),('HP:0005293','Venous insufficiency',''),('HP:0005294','Arterial dissection','A separation (dissection) of the layers of an artery.'),('HP:0005295','Pseudocoarctation of the aorta','Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.'),('HP:0005296','obsolete Occlusive vascular disease',''),('HP:0005297','Premature occlusive vascular stenosis','Peripheral arterial stenosis with onset before the age of 50 years.'),('HP:0005298','obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia',''),('HP:0005299','obsolete Premature peripheral vascular disease',''),('HP:0005300','Nodular inflammatory vasculitis',''),('HP:0005301','Persistent left superior vena cava','A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.'),('HP:0005302','Carotid artery tortuosity','Abnormal tortuous (i.e., twisted) form of the carotid arteries.'),('HP:0005303','Aortic arch calcification','Calcification, that is, pathological deposition of calcium salts in the arch of aorta.'),('HP:0005304','Hypoplastic pulmonary veins',''),('HP:0005305','Cerebral venous thrombosis','Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.'),('HP:0005306','Capillary hemangioma','The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.'),('HP:0005307','Postural hypotension with compensatory tachycardia',''),('HP:0005308','Pulmonary artery vasoconstriction',''),('HP:0005309','obsolete Peripheral vascular insufficiency',''),('HP:0005310','Large vessel vasculitis','A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.'),('HP:0005311','Agenesis of pulmonary vessels',''),('HP:0005312','Pulmonary aterial intimal fibrosis','Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.'),('HP:0005313','Arterial fibromuscular dysplasia','An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.'),('HP:0005314','Anomalous branches of internal carotid artery',''),('HP:0005315','obsolete Peripheral artery occlusive disease',''),('HP:0005316','Peripheral pulmonary vessel aplasia',''),('HP:0005317','Increased pulmonary vascular resistance',''),('HP:0005318','Cerebral vasculitis','Inflammation of the blood vessels within the brain.'),('HP:0005320','Lack of facial subcutaneous fat',''),('HP:0005321','Mandibulofacial dysostosis','A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.'),('HP:0005322','Prominent nasal septum',''),('HP:0005323','Hemifacial hypertrophy','Unilateral overgrowth of facial tissues, including muscles, bones and skin.'),('HP:0005324','Disturbance of facial expression','An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.'),('HP:0005325','Extension of hair growth on temples to lateral eyebrow','A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.'),('HP:0005326','Hypoplastic philtrum','Underdevelopment of the philtrum.'),('HP:0005327','Loss of facial expression',''),('HP:0005328','Progeroid facial appearance','A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.'),('HP:0005329','Fixed facial expression',''),('HP:0005332','Recurrent mandibular subluxations','Recurrent partial dislocations of the mandible.'),('HP:0005335','Sleepy facial expression',''),('HP:0005336','Forehead hyperpigmentation',''),('HP:0005338','Sparse lateral eyebrow','Decreased density/number and/or decreased diameter of lateral eyebrow hairs.'),('HP:0005339','Abnormality of complement system','An abnormality of the complement system.'),('HP:0005340','Spastic/hyperactive bladder',''),('HP:0005341','Autonomic bladder dysfunction','Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.'),('HP:0005343','Hypoplasia of the bladder','Underdevelopment of the urinary bladder.'),('HP:0005344','Abnormal carotid artery morphology','Any structural abnormality of the carotid arteries, including the common carotid artery and its` arterial branches.'),('HP:0005345','Abnormal vena cava morphology','An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.'),('HP:0005346','Abnormal facial expression',''),('HP:0005347','Cartilaginous trachea',''),('HP:0005348','Inspiratory stridor','Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.'),('HP:0005349','Hypoplasia of the epiglottis','Hypoplasia of the epiglottis.'),('HP:0005352','Severe T-cell immunodeficiency','A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.'),('HP:0005353','Recurrent herpes','Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.'),('HP:0005354','Lack of T cell function','Complete inability of T cells to perform their functions in cell-mediated immunity.'),('HP:0005356','Decreased serum complement factor I','A reduced level of the complement component Factor I in circulation.'),('HP:0005357','Defective B cell differentiation','Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.'),('HP:0005359','Aplasia of the thymus','Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.'),('HP:0005360','Susceptibility to chickenpox','Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.'),('HP:0005363','Humoral immunodeficiency','A general term referring to a defect in immunity resulting from impaired antibody production.'),('HP:0005364','obsolete Severe viral infections',''),('HP:0005365','Severe B lymphocytopenia','A severe form of B lymphocytopenia in which the count of B cells is very low or absent.'),('HP:0005366','Recurrent streptococcus pneumoniae infections','Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.'),('HP:0005368','Abnormality of humoral immunity','An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.'),('HP:0005369','Decreased serum complement factor H','A reduced level of the complement component Factor H in circulation.'),('HP:0005372','Abnormality of B cell physiology','An abnormality of the physiological functioning of B cells.'),('HP:0005374','Cellular immunodeficiency','An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.'),('HP:0005375','obsolete Partial cellular immunodeficiency',''),('HP:0005376','Recurrent Haemophilus influenzae infections','Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.'),('HP:0005379','obsolete Severe T lymphocytopenia',''),('HP:0005381','Recurrent meningococcal disease','Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.'),('HP:0005384','Defective B cell activation','A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of'),('HP:0005386','Recurrent protozoan infections','Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.'),('HP:0005387','Combined immunodeficiency','A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.'),('HP:0005389','Depletion of components of the alternative complement pathway','An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.'),('HP:0005390','Recurrent opportunistic infections','Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.'),('HP:0005396','Susceptibility to coronavirus 229e','Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.'),('HP:0005397','obsolete Exaggerated cellular immune processes',''),('HP:0005400','Reduction of neutrophil motility','An abnormal reduction of the cell motility of neutrophils.'),('HP:0005401','Recurrent candida infections','An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.'),('HP:0005402','obsolete Primary T-lymphocyte immune abnormalities',''),('HP:0005403','Decrease in T cell count','An abnormally low count of T cells.'),('HP:0005404','Increased B cell count','An abnormal increase from the normal count of B cells.'),('HP:0005406','Recurrent bacterial skin infections','Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.'),('HP:0005407','Decreased proportion of CD4-positive helper T cells','A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.'),('HP:0005409','obsolete Markedly reduced T cell function',''),('HP:0005411','Chronic intestinal candidiasis','Persistent overgrowth of Candida albicans in the gastrointestinal tract.'),('HP:0005413','Increased alpha-globulin','An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.'),('HP:0005415','Decreased proportion of CD8-positive T cells','A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.'),('HP:0005416','Decreased serum complement factor B','A reduced level of the complement component factor B in circulation.'),('HP:0005419','Decreased T cell activation','Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.'),('HP:0005420','Recurrent gram-negative bacterial infections','Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.'),('HP:0005421','Decreased serum complement C3','A reduced level of the complement component C3 in circulation.'),('HP:0005422','Absence of CD8-positive T cells','Lack of detectible CD8-positive T cells'),('HP:0005423','Dysfunctional alternative complement pathway','An abnormality of the functioning of any aspect of the alternative complement pathway.'),('HP:0005424','Absent specific antibody response','Absence of specific immunoglobulins directed against a specific antigen or microorganism.'),('HP:0005425','Recurrent sinopulmonary infections','An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.'),('HP:0005428','Severe recurrent varicella',''),('HP:0005429','Recurrent systemic pyogenic infections','Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.'),('HP:0005430','Recurrent Neisserial infections','Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).'),('HP:0005432','Transient hypogammaglobulinemia of infancy','At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.'),('HP:0005435','Impaired T cell function','Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.'),('HP:0005437','Recurrent infections in infancy and early childhood','Recurrent infections at an early age with improvement in later childhood.'),('HP:0005439','Maxillozygomatic hypoplasia','Hypoplasia of the maxillozygomatic complex.'),('HP:0005441','Sclerotic cranial sutures','An increased density in the cranial sutures following obliteration.'),('HP:0005442','Widely patent coronal suture','The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.'),('HP:0005445','Widened posterior fossa',''),('HP:0005446','Obtuse angle of mandible','Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.'),('HP:0005449','Bridged sella turcica',''),('HP:0005450','Calvarial osteosclerosis','An increase in bone density affecting the calvaria (roof of the skull).'),('HP:0005451','Decreased cranial base ossification',''),('HP:0005453','Absent/hypoplastic paranasal sinuses','Aplasia or hypoplasia of the paranasal sinuses.'),('HP:0005456','Absent ethmoidal sinuses','Lack (aplasia) of the ethmoidal sinus.'),('HP:0005458','Premature closure of fontanelles','Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.'),('HP:0005461','Craniofacial disproportion',''),('HP:0005462','Calcification of falx cerebri','The presence of calcium deposition in the falx cerebri.'),('HP:0005463','Elongated sella turcica',''),('HP:0005464','Craniofacial osteosclerosis','Abnormally increased density of craniofacial bone tissue.'),('HP:0005465','Facial hyperostosis','Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.'),('HP:0005466','Hypoplasia of the frontal bone','Underdevelopment of the frontal bone.'),('HP:0005469','Flat occiput','Reduced convexity of the occiput (posterior part of skull).'),('HP:0005472','Orbital craniosynostosis',''),('HP:0005473','Fusion of middle ear ossicles','Bony fusion of malleus, incus, and stapes.'),('HP:0005474','Decreased calvarial ossification','Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).'),('HP:0005476','Widely patent sagittal suture','The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.'),('HP:0005477','Progressive sclerosis of skull base','Progressively increasing bone density of the skull base without significant changes in bony contour.'),('HP:0005478','Prominent frontal sinuses',''),('HP:0005479','Decreased circulating IgE','An abnormally decreased level of immunoglobulin E (IgE) in blood.'),('HP:0005482','Abnormality of the alternative complement pathway','A deviation in any aspect of the alternative complement pathway.'),('HP:0005483','Abnormal epiglottis morphology','An abnormality of the epiglottis.'),('HP:0005484','Postnatal microcephaly','Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.'),('HP:0005486','Small fontanelle','A fontanelle that is small for age.'),('HP:0005487','Prominent metopic ridge','Vertical bony ridge positioned in the midline of the forehead.'),('HP:0005490','Postnatal macrocephaly','The postnatal development of an abnormally large skull (macrocephaly).'),('HP:0005494','Premature posterior fontanelle closure',''),('HP:0005495','Metopic suture patent to nasal root','The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.'),('HP:0005498','Midline skin dimples over anterior/posterior fontanelles',''),('HP:0005502','Increased red cell osmotic fragility',''),('HP:0005505','Refractory anemia',''),('HP:0005506','Chronic myelogenous leukemia','A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.'),('HP:0005507','Hemoglobin Barts','Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.'),('HP:0005508','Monoclonal immunoglobulin M proteinemia','Presence of a monoclonal immunoglobulin M protein in the serum.'),('HP:0005510','Transient erythroblastopenia','A transient reduction in the number of erythroblasts in the circulation.'),('HP:0005511','Heinz body anemia','Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.'),('HP:0005512','Impaired neutrophil killing of staphylococci','A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.'),('HP:0005513','Increased megakaryocyte count','Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.'),('HP:0005517','T-cell lymphoma/leukemia','A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.'),('HP:0005518','Increased mean corpuscular volume','Larger than normal size of erythrocytes.'),('HP:0005520','Chronic disseminated intravascular coagulation','A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.'),('HP:0005521','Disseminated intravascular coagulation','Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.'),('HP:0005522','Pyridoxine-responsive sideroblastic anemia','A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.'),('HP:0005523','Lymphoproliferative disorder',''),('HP:0005524','Macrocytic hemolytic disease',''),('HP:0005525','Spontaneous hemolytic crises',''),('HP:0005526','Lymphoid leukemia','A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.'),('HP:0005527','Reduced kininogen activity','Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.'),('HP:0005528','Bone marrow hypocellularity','A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.'),('HP:0005531','Biphenotypic acute leukemia','A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.'),('HP:0005532','Macrocytic dyserythropoietic anemia',''),('HP:0005534','Transient myeloproliferative syndrome','A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.'),('HP:0005535','Exercise-induced hemolysis','A form of hemolytic anemia that can be triggered by exertion.'),('HP:0005537','Decreased mean platelet volume','Average platelet volume below the lower limit of the normal reference interval.'),('HP:0005539','T cell chronic lymphocytic lymphoma/leukemia','A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.'),('HP:0005540','Red blood cell keratocytosis','A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.'),('HP:0005541','Congenital agranulocytosis','Congenital onset of a marked decrease in the number of granulocytes.'),('HP:0005542','Prolonged whole-blood clotting time','An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.'),('HP:0005543','Reduced protein C activity','An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.'),('HP:0005546','Increased red cell osmotic resistance',''),('HP:0005547','Myeloproliferative disorder','Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.'),('HP:0005548','Megakaryocytopenia','A reduced count of megakaryocytes.'),('HP:0005549','obsolete Congenital neutropenia','A form of neutropenia with congenital onset.'),('HP:0005550','Chronic lymphatic leukemia','A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.'),('HP:0005556','Abnormality of the metopic suture','The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\".'),('HP:0005557','Abnormality of the zygomatic arch','An abnormality of the zygomatic arch, also known as the cheek bone.'),('HP:0005558','Chronic leukemia','A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.'),('HP:0005559','Abnormality of the kinin-kallikrein system',''),('HP:0005560','Imbalanced hemoglobin synthesis','Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.'),('HP:0005561','Abnormality of bone marrow cell morphology','An anomaly of the form or number of cells in the bone marrow.'),('HP:0005562','Multiple renal cysts','The presence of many cysts in the kidney.'),('HP:0005563','Decreased numbers of nephrons','A reduction in the count of nephrons per kidney.'),('HP:0005564','Absence of renal corticomedullary differentiation','A lack of differentiation between renal cortex and medulla on diagnostic imaging.'),('HP:0005565','Reduced renal corticomedullary differentiation','Reduced differentiation between renal cortex and medulla on diagnostic imaging.'),('HP:0005567','Renal magnesium wasting','High urine magnesium in the presence of hypomagnesemia.'),('HP:0005571','Increased renal tubular phosphate reabsorption',''),('HP:0005572','Decreased renal tubular phosphate excretion',''),('HP:0005574','Non-acidotic proximal tubulopathy','A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.'),('HP:0005575','Hemolytic-uremic syndrome',''),('HP:0005576','Tubulointerstitial fibrosis','A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.'),('HP:0005579','Impaired reabsorption of chloride','Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.'),('HP:0005580','Duplication of renal pelvis','A duplication of the renal pelvis.'),('HP:0005583','Tubular basement membrane disintegration','DIsruption and breaking up of the basement membrane of the tubules of the kidney.'),('HP:0005584','Renal cell carcinoma','A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.'),('HP:0005585','Spotty hyperpigmentation',''),('HP:0005586','Hyperpigmentation in sun-exposed areas',''),('HP:0005587','Profuse pigmented skin lesions',''),('HP:0005588','Patchy palmoplantar keratoderma','A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.'),('HP:0005590','Spotty hypopigmentation',''),('HP:0005592','Giant melanosomes in melanocytes','The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.'),('HP:0005593','Macular hypopigmented whorls, streaks, and patches',''),('HP:0005595','Generalized hyperkeratosis',''),('HP:0005597','Congenital alopecia totalis','Loss of all scalp hair with congenital onset.'),('HP:0005598','Facial telangiectasia in butterfly midface distribution','Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.'),('HP:0005599','Hypopigmentation of hair',''),('HP:0005600','Congenital giant melanocytic nevus','The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.'),('HP:0005602','Progressive vitiligo',''),('HP:0005603','Numerous congenital melanocytic nevi',''),('HP:0005605','Large cafe-au-lait macules with irregular margins','Large hypermelanotic macules with jagged borders.'),('HP:0005606','Hyperpigmented nevi and streak',''),('HP:0005607','Abnormal tracheobronchial morphology',''),('HP:0005608','Bilobate gallbladder','The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.'),('HP:0005609','Gallbladder dysfunction',''),('HP:0005612','Arthrogryposis-like hand anomaly',''),('HP:0005613','Aplasia/hypoplasia of the femur','Absence or underdevelopment of the femur.'),('HP:0005616','Accelerated skeletal maturation','An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.'),('HP:0005617','Bilateral camptodactyly',''),('HP:0005619','Thoracolumbar kyphosis','Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.'),('HP:0005620','Hypermobility of interphalangeal joints','The ability of the interphalangeal joints to move beyond their normal range of motion.'),('HP:0005621','Trapezoidal shaped vertebral bodies',''),('HP:0005622','Broad long bones','Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.'),('HP:0005623','Absent ossification of calvaria','Absent ossification of the calvaria (vault of the skull).'),('HP:0005625','Osteoporosis of vertebrae','Osteoporosis affecting predominantly the vertebrae.'),('HP:0005626','Posterior fusion of lumbosacral vertebrae','Bony fusion of the posterior part of the L5 vertebral body with the sacrum.'),('HP:0005627','Type D brachydactyly','This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.'),('HP:0005632','Absent forearm',''),('HP:0005638','Decreased anterioposterior diameter of lumbar vertebral bodies',''),('HP:0005639','Hyperextensible hand joints','The ability of the joints of the hand to move beyond their normal range of motion.'),('HP:0005640','Abnormal vertebral segmentation and fusion',''),('HP:0005643','Short 3rd toe','Underdevelopment (hypoplasia) of the third toe.'),('HP:0005645','Intervertebral disk calcification','The presence of abnormal calcium deposition of the intervertebral disk.'),('HP:0005648','Bilateral ulnar hypoplasia','Underdevelopment of the ulna on both sides.'),('HP:0005650','Cutaneous syndactyly between fingers 2 and 5','A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.'),('HP:0005652','Cortical sclerosis','Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.'),('HP:0005653','Moderate generalized osteoporosis','Moderate osteoporosis.'),('HP:0005655','Multiple digital exostoses','Multiple exostoses originating in the fingers and toes.'),('HP:0005656','Positional foot deformity','A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.'),('HP:0005659','Thoracic kyphoscoliosis',''),('HP:0005661','Salmonella osteomyelitis','Osteomyelitis caused by infection with the bacteria, salmonella.'),('HP:0005665','Massively thickened long bone cortices','Extreme thickening of the cortex of long bones.'),('HP:0005667','Os odontoideum','Separation of the odontoid process from the body of the axis.'),('HP:0005671','Bilateral intracranial calcifications','Deposition of calcium salts on both sides of the brain.'),('HP:0005676','Rudimentary postaxial polydactyly of hands',''),('HP:0005678','Anterior atlanto-occipital dislocation',''),('HP:0005679','Dupuytren contracture','An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.'),('HP:0005680','Tongue-like lumbar vertebral deformities','A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.'),('HP:0005681','Juvenile rheumatoid arthritis',''),('HP:0005682','Talocalcaneal synostosis',''),('HP:0005684','Distal arthrogryposis','An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.'),('HP:0005686','Patchy osteosclerosis','Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0005687','Deformed humeral heads',''),('HP:0005688','Dysplastic distal thumb phalanges with a central hole',''),('HP:0005689','Dermatoglyphic ridges abnormal',''),('HP:0005692','Joint hyperflexibility','Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.'),('HP:0005694','Partial fusion of proximal row of carpal bones',''),('HP:0005696','Postaxial polydactyly type A','Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.'),('HP:0005700','Increased bone density with cystic changes',''),('HP:0005701','Multiple enchondromatosis',''),('HP:0005707','Bilateral triphalangeal thumbs','A bilateral form of triphalangeal thumb.'),('HP:0005709','2-3 toe cutaneous syndactyly',''),('HP:0005715','Flattened knee epiphyses',''),('HP:0005716','Lethal skeletal dysplasia',''),('HP:0005720','Shortening of all metacarpals','Abnormal reduction in length of all metacarpal bones.'),('HP:0005722','Hyperextensible thumb','The ability of the thumb joints to move beyond their normal range of motion.'),('HP:0005723','Shoe-shaped sella turcica',''),('HP:0005725','Nonopposable triphalangeal thumb','A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.'),('HP:0005726','Thumbs hypoplastic with bulbous tips',''),('HP:0005731','Cortical irregularity','An abnormal irregularity of cortical bone.'),('HP:0005733','Spinal stenosis with reduced interpedicular distance','An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).'),('HP:0005736','Short tibia','Underdevelopment (reduced size) of the tibia.'),('HP:0005739','Posterior subluxation of radial head','Partial dislocation of the head of the radius in the posterior direction.'),('HP:0005743','Avascular necrosis of the capital femoral epiphysis','Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.'),('HP:0005744','obsolete Generalized osteoporosis with pathologic fractures',''),('HP:0005745','Congenital foot contractures',''),('HP:0005746','Osteosclerosis of the base of the skull','An increase in bone density affecting the basicranium (base of the skull).'),('HP:0005747','Easily subluxated first metacarpophalangeal joints',''),('HP:0005750','Contractures of the joints of the lower limbs',''),('HP:0005752','Flattened moderately deformed vertebrae',''),('HP:0005756','Neonatal epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.'),('HP:0005758','Basilar impression','Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.'),('HP:0005759','Small flat posterior fossa','An abnormally small and flat configuration of the posterior cranial fossa.'),('HP:0005764','Polyarticular arthritis',''),('HP:0005765','Sacral meningocele',''),('HP:0005766','Disproportionate shortening of the tibia',''),('HP:0005767','1-2 toe complete cutaneous syndactyly',''),('HP:0005768','2-4 toe cutaneous syndactyly','A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.'),('HP:0005769','Fifth finger distal phalanx clinodactyly','Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).'),('HP:0005772','Aplasia/Hypoplasia of the tibia','Absence or underdevelopment of the tibia.'),('HP:0005773','Short forearm','Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.'),('HP:0005775','Multiple skeletal anomalies',''),('HP:0005776','Carpal bone malsegmentation',''),('HP:0005780','Absent fourth finger distal interphalangeal crease','Absence of the distal interphalangeal flexion creases of the fourth finger.'),('HP:0005781','Contractures of the large joints',''),('HP:0005787','Lumbar platyspondyly','A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.'),('HP:0005788','Abnormal cervical myelogram',''),('HP:0005789','Generalized osteosclerosis','An abnormal increase of bone mineral density with generalized involvement of the skeleton.'),('HP:0005790','Short mandibular condyles',''),('HP:0005791','Cortical thickening of long bone diaphyses','Abnormal thickening of the cortex of the diaphyseal region of long bones.'),('HP:0005792','Short humerus','Underdevelopment of the humerus.'),('HP:0005793','Shortening of all distal phalanges of the toes','Abnormally short distal phalanx of toe of all toes.'),('HP:0005794','obsolete Arterial disease of legs',''),('HP:0005798','Posterior radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.'),('HP:0005802','Coalescence of tarsal bones',''),('HP:0005807','Absent distal phalanges','Aplasia (absence) of the distal phalanges.'),('HP:0005815','Supernumerary ribs','The presence of more than 12 rib pairs.'),('HP:0005817','Postaxial polysyndactyly of foot','Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).'),('HP:0005819','Short middle phalanx of finger','Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.'),('HP:0005820','Superior rib anomalies',''),('HP:0005824','Clinodactyly of the 2nd toe','Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).'),('HP:0005825','Mixed sclerosis of humeral metaphyses',''),('HP:0005828','Transient pulmonary infiltrates',''),('HP:0005829','Maldevelopment of radioulnar joint',''),('HP:0005830','Flexion contracture of toe','One or more bent (flexed) toe joints that cannot be straightened actively or passively.'),('HP:0005831','Type B brachydactyly',''),('HP:0005832','Dysharmonic delayed bone age','A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.'),('HP:0005833','obsolete Joint swelling onset late infancy',''),('HP:0005834','obsolete Thumbs hypo/aplastic',''),('HP:0005837','obsolete Joint dislocations in young adult',''),('HP:0005841','Calcific stippling of infantile cartilaginous skeleton',''),('HP:0005844','Rounded middle phalanx of finger','An abnormally round shape of the middle phalanx of the finger.'),('HP:0005848','obsolete Bifid thumb distal phalanx',''),('HP:0005849','Diffuse cerebral calcification','Generalized deposition of calcium salts within the brain.'),('HP:0005850','Congenital talipes calcaneovalgus',''),('HP:0005852','Limited elbow extension and supination',''),('HP:0005853','Congenital foot contraction deformities',''),('HP:0005855','Multiple prenatal fractures','The presence of bone fractures in the prenatal period that are diagnosed at birth or before.'),('HP:0005856','Ulnar radial head dislocation','A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.'),('HP:0005857','Cervical spina bifida',''),('HP:0005863','Type E brachydactyly','In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.'),('HP:0005864','Pseudoarthrosis','A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\").'),('HP:0005866','Opposable triphalangeal thumb','A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.'),('HP:0005867','Fused fourth and fifth metacarpals',''),('HP:0005868','Metaphyseal enchondromatosis','An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.'),('HP:0005871','Metaphyseal chondrodysplasia','An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.'),('HP:0005872','Brachytelomesophalangy','Disproportionately short middle and distal phalanges compared to the hand/foot.'),('HP:0005873','Polysyndactyly of hallux','Combined syndactyly and polydactyly of the great toe.'),('HP:0005875','Increased dermatoglyphic whorls',''),('HP:0005876','Progressive flexion contractures','Progressively worsening joint contractures.'),('HP:0005877','Multiple small vertebral fractures',''),('HP:0005878','Enlarged sagittal diameter of the cervical canal',''),('HP:0005879','Congenital finger flexion contractures','Multiple bent (flexed) finger joints that cannot be straightened actively or passively.'),('HP:0005880','Metacarpophalangeal synostosis','Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.'),('HP:0005881','Spinal instability',''),('HP:0005882','Dermatoglyphic variants',''),('HP:0005885','Absent ossification of cervical vertebral bodies','A lack of bone mineralization of one or more body of cervical vertebra.'),('HP:0005886','Aphalangy of the hands','Absence of a digit or of one or more phalanges of a finger.'),('HP:0005890','Hyperostosis cranialis interna','Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.'),('HP:0005891','Progressive forearm bowing','Progressive bending or abnormal curvature of the forearm skeleton.'),('HP:0005892','Proximal tibial and fibular fusion',''),('HP:0005894','Double first metacarpals','Duplication of the metacarpal I bones.'),('HP:0005895','Radial deviation of thumb terminal phalanx',''),('HP:0005897','Severe generalized osteoporosis','Severe degree of osteoporosis.'),('HP:0005899','Metaphyseal dysostosis','Abnormal mineralization of the metaphyseal area of bones.'),('HP:0005900','Fifth metacarpal with ulnar notch','Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).'),('HP:0005901','obsolete Chronic recurrent multifocal osteomyelitis',''),('HP:0005905','Abnormal cervical curvature','The presence of an abnormal curvature of the cervical vertebral column.'),('HP:0005906','Delayed pneumatization of the mastoid process','An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.'),('HP:0005910','Rhomboid or triangular shaped 5th finger middle phalanx','Rhomboid or triangular shaped 5th (little) finger middle phalanx.'),('HP:0005912','Biliary atresia','Atresia of the biliary tree.'),('HP:0005913','Abnormality of metacarpal epiphyses',''),('HP:0005914','Aplasia/Hypoplasia involving the metacarpal bones','Aplasia or Hypoplasia affecting the metacarpal bones.'),('HP:0005916','Abnormal metacarpal morphology','Irregularly shaped metacarpal bones of varying degree.'),('HP:0005917','Supernumerary metacarpal bones','The presence of more than the normal number of metacarpal bones.'),('HP:0005918','Abnormal finger phalanx morphology','Abnormalities affecting the phalanx of finger.'),('HP:0005920','Abnormal epiphysis morphology of the phalanges of the hand','Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).'),('HP:0005921','obsolete Abnormal ossification of hand bones',''),('HP:0005922','Abnormal hand morphology','Any structural anomaly of the hand.'),('HP:0005923','Abnormalities of the metaphyses of the hand',''),('HP:0005924','Abnormality of the epiphyses of the hand','Any abnormality of the epiphyses of the phalanges or metacarpal bones.'),('HP:0005925','Abnormalities of the diaphyses of the hand',''),('HP:0005926','Abnormality of hand cortical bone','An anomaly of the outer shell (cortex) of a hand bone.'),('HP:0005927','Aplasia/hypoplasia involving bones of the hand','Absence (due to failure to form) or underdevelopment of the bones of the hand.'),('HP:0005928','Synostosis involving the fibula',''),('HP:0005929','Synostosis involving the tibia',''),('HP:0005930','Abnormality of epiphysis morphology','An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.'),('HP:0005932','Abnormal renal corticomedullary differentiation','An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.'),('HP:0005934','Imperfect vocal cord adduction',''),('HP:0005938','Abnormal respiratory motile cilium morphology','Abnormal arrangement of the structures of the motile cilium.'),('HP:0005939','Multiple bilateral pneumothoraces',''),('HP:0005941','Intermittent hyperpnea at rest',''),('HP:0005942','Desquamative interstitial pneumonitis','Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.'),('HP:0005943','Respiratory arrest',''),('HP:0005944','Bilateral lung agenesis','Bilateral lack of development of the lungs.'),('HP:0005945','Laryngeal obstruction','Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.'),('HP:0005946','Ventilator dependence with inability to wean',''),('HP:0005947','Decreased sensitivity to hypoxemia','Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.'),('HP:0005948','Multiple pulmonary cysts','The presence of multiple lung cysts.'),('HP:0005949','Apneic episodes in infancy','Recurrent episodes of apnea occurring during infancy.'),('HP:0005950','Laryngeal web','A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.'),('HP:0005951','Progressive inspiratory stridor',''),('HP:0005952','Decreased pulmonary function',''),('HP:0005954','Pulmonary capillary hemangiomatosis',''),('HP:0005956','Anteroposteriorly shortened larynx','Abnormal shortening of the larynx in the anteroposterior (front to back) axis.'),('HP:0005957','Breathing dysregulation',''),('HP:0005959','Impaired gluconeogenesis','An impairment of gluconeogenesis.'),('HP:0005961','Hypoargininemia','A decreased concentration of arginine in the blood.'),('HP:0005964','Intermittent hypothermia','Episodes of reduced body termperature.'),('HP:0005967','Mixed respiratory and metabolic acidosis',''),('HP:0005968','Temperature instability','Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.'),('HP:0005972','Respiratory acidosis','Acidosis because of respiratory retention of carbon dioxide.'),('HP:0005973','Fructose intolerance',''),('HP:0005974','Episodic ketoacidosis','Intermittent episodes of ketoacidosis.'),('HP:0005976','Hyperkalemic metabolic acidosis',''),('HP:0005977','Hypochloremic metabolic alkalosis',''),('HP:0005978','Type II diabetes mellitus','A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.'),('HP:0005979','Metabolic ketoacidosis',''),('HP:0005982','Reduced phenylalanine hydroxylase level','A reduction in phenylalanine 4-monooxygenase level.'),('HP:0005984','Elevated maternal serum alpha-fetoprotein','An elevation of alpha-feto protein in the maternal serum.'),('HP:0005986','Limitation of neck motion',''),('HP:0005987','Multinodular goiter','Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.'),('HP:0005988','Congenital muscular torticollis','A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.'),('HP:0005989','Redundant neck skin','Excess skin around the neck, often lying in horizontal folds.'),('HP:0005990','Thyroid hypoplasia','Developmental hypoplasia of the thyroid gland.'),('HP:0005991','Limited neck flexion',''),('HP:0005994','Nodular goiter','Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.'),('HP:0005995','Decreased adipose tissue around neck','Reduced amount of adipose tissue in the region of the neck.'),('HP:0005997','Restricted neck movement due to contractures',''),('HP:0005999','Ureteral atresia','A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.'),('HP:0006000','Ureteral obstruction','Obstruction of the flow of urine through the ureter.'),('HP:0006006','Hypotrophy of the small hand muscles',''),('HP:0006008','Unilateral brachydactyly',''),('HP:0006009','Broad phalanx','Increased side-to-side width of one or more phalanges of the fingers or toes.'),('HP:0006011','Cuboidal metacarpal','Severely shortened metacarpal with a cuboidal appearance.'),('HP:0006012','Widened metacarpal shaft',''),('HP:0006014','Abnormally shaped carpal bones',''),('HP:0006016','Delayed phalangeal epiphyseal ossification','Delay in the process of formation and maturation of the epiphysis of one or more phalanx.'),('HP:0006019','Reduced proximal interphalangeal joint space',''),('HP:0006026','Rounded epiphyses',''),('HP:0006028','Metaphyseal cupping of metacarpals','Metaphyseal cupping affecting the metacarpal bones.'),('HP:0006035','Cone-shaped epiphyses of phalanges 2 to 5',''),('HP:0006040','Long second metacarpal',''),('HP:0006042','Y-shaped metacarpals','Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.'),('HP:0006045','Short pointed phalanges',''),('HP:0006048','Distal widening of metacarpals','Abnormal increase in width of the distal region of the metacarpal bones.'),('HP:0006051','Metacarpal periosteal thickening',''),('HP:0006055','Ulnar deviated club hands',''),('HP:0006059','Cone-shaped metacarpal epiphyses','A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a `ball-in-a-socket` appearance. This epiphyses are located at the distal ends of the metacarpal bones.'),('HP:0006060','Tombstone-shaped proximal phalanges',''),('HP:0006064','Limited interphalangeal movement',''),('HP:0006067','Multiple carpal ossification centers','A delay in the process of formation and maturation of the epiphysis of one or more long bones.'),('HP:0006069','Severe carpal ossification delay',''),('HP:0006070','Metacarpophalangeal joint contracture','A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0006077','Absent proximal finger flexion creases','Absence of the proximal interphalangeal flexion creases of the fingers.'),('HP:0006086','Thin metacarpal cortices',''),('HP:0006088','1-5 finger complete cutaneous syndactyly',''),('HP:0006089','Palmar hyperhidrosis',''),('HP:0006092','Malaligned carpal bone','Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).'),('HP:0006094','Finger joint hypermobility',''),('HP:0006095','Wide tufts of distal phalanges',''),('HP:0006097','3-4 finger syndactyly','Syndactyly with fusion of fingers three and four.'),('HP:0006099','Metacarpophalangeal joint hyperextensibility','Increased mobility of one ore more metacarpophalangeal joint.'),('HP:0006101','Finger syndactyly','Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0006106','Absent trapezoid bone',''),('HP:0006107','Fingerpad telangiectases','Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.'),('HP:0006108','Tapered metacarpals','Metacarpal that becomes thinner toward the distal end.'),('HP:0006109','Absent phalangeal crease','Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).'),('HP:0006110','Shortening of all middle phalanges of the fingers','Short, hypoplastic middle phalanx of finger, affecting all fingers.'),('HP:0006112','Expanded phalanges with widened medullary cavities',''),('HP:0006114','Multiple palmar creases','The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).'),('HP:0006118','Shortening of all distal phalanges of the fingers','Hypoplasia of all of the distal phalanx of finger.'),('HP:0006119','Proximal tapering of metacarpals','Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.'),('HP:0006121','Acral ulceration','A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.'),('HP:0006127','Long proximal phalanx of finger','Increased length of the proximal phalanx of finger.'),('HP:0006129','Drumstick terminal phalanges','Rounding and broadening of the tufts of the distal phalanges.'),('HP:0006134','Enlarged metacarpal epiphyses','Abnormally large size of the metaphyseal epiphyses.'),('HP:0006135','Decreased finger mobility',''),('HP:0006136','Bilateral postaxial polydactyly',''),('HP:0006140','Premature fusion of phalangeal epiphyses','Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.'),('HP:0006143','Abnormal finger flexion creases',''),('HP:0006144','Shortening of all proximal phalanges of the fingers','Congenital hypoplasia of proximal phalanx of finger or all fingers.'),('HP:0006145','Central Y-shaped metacarpal','A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.'),('HP:0006146','Broad metacarpal epiphyses','Increased side-to-side width of the metacarpal epiphyses.'),('HP:0006147','Progressive fusion 2nd-5th pip joints',''),('HP:0006149','Increased laxity of fingers',''),('HP:0006150','Swan neck-like deformities of the fingers','A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson`s disease, or stroke.'),('HP:0006152','Proximal symphalangism of hands','The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.'),('HP:0006153','Disharmonious carpal bone',''),('HP:0006155','Long phalanx of finger','Increased length of multiple or a single phalanx of finger.'),('HP:0006156','Ulnar deviation of thumb','Bending or curvature of a thumb towards the ulnar side (towards the ring finger).'),('HP:0006157','Prominent palmar flexion creases',''),('HP:0006158','obsolete Finger joint hyperextensibility',''),('HP:0006159','Mesoaxial hand polydactyly','The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.'),('HP:0006160','Irregular metacarpals','Irregular morphology of one or more metacarpal bones.'),('HP:0006161','Short metacarpals with rounded proximal ends',''),('HP:0006162','Soft tissue swelling of interphalangeal joints',''),('HP:0006163','Enlarged metacarpophalangeal joints',''),('HP:0006165','Proportionate shortening of all digits',''),('HP:0006166','Tubular metacarpal bones',''),('HP:0006167','Prominent proximal interphalangeal joints',''),('HP:0006169','Decreased mobility 3rd-5th fingers',''),('HP:0006170','Chess-pawn distal phalanges','A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.'),('HP:0006172','Flattened, squared-off epiphyses of tubular bones',''),('HP:0006174','Metacarpal diaphyseal endosteal sclerosis','Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.'),('HP:0006175','Proximal phalangeal periosteal thickening',''),('HP:0006176','Two carpal ossification centers present at birth',''),('HP:0006179','Pseudoepiphyses of second metacarpal',''),('HP:0006180','Crowded carpal bones',''),('HP:0006184','Decreased palmar creases','Poorly defined or shallow palmar creases.'),('HP:0006185','Enlarged proximal interphalangeal joints',''),('HP:0006187','Fusion of midphalangeal joints',''),('HP:0006189','Prominent interdigital folds',''),('HP:0006190','Radially deviated wrists',''),('HP:0006191','Deep palmar crease','Excessively deep creases of the palm.'),('HP:0006192','Tapered phalanx of finger','Phalanges of the fingers becoming thinner toward the distal end.'),('HP:0006193','Thimble-shaped middle phalanges of hand','The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.'),('HP:0006200','Widened distal phalanges',''),('HP:0006201','Hypermobility of distal interphalangeal joints',''),('HP:0006202','Osteolysis of scaphoids',''),('HP:0006203','Decreased movement range in interphalangeal joints',''),('HP:0006205','Irregular phalanges','Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.'),('HP:0006206','Hypersegmentation of proximal phalanx of second finger','Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.'),('HP:0006207','Partial fusion of carpals',''),('HP:0006208','Metaphyseal cupping of proximal phalanges','Metaphyseal cupping affecting the proximal phalanges.'),('HP:0006209','Partial-complete absence of 5th phalanges',''),('HP:0006210','Postaxial oligodactyly',''),('HP:0006213','Thin proximal phalanges with broad epiphyses of the hand',''),('HP:0006216','Single interphalangeal crease of fifth finger','Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.'),('HP:0006217','Limited mobility of proximal interphalangeal joint',''),('HP:0006224','Tapering pointed ends of distal finger phalanges','A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).'),('HP:0006226','Osteoarthritis of the first carpometacarpal joint',''),('HP:0006228','Valgus hand deformity',''),('HP:0006230','Unilateral oligodactyly',''),('HP:0006232','Expanded metacarpals with widened medullary cavities',''),('HP:0006233','Osteoarthritis of the distal interphalangeal joint',''),('HP:0006234','Osteolysis involving tarsal bones','An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.'),('HP:0006236','Slender metacarpals','Decreased width of the metacarpal bones (that is, reduced diameter).'),('HP:0006237','Prominent interphalangeal joints',''),('HP:0006239','Shortening of all middle phalanges of the toes','Abnormal shortening of all middle phalanges of toes.'),('HP:0006243','Phalangeal dislocation',''),('HP:0006247','Enlarged interphalangeal joints',''),('HP:0006248','Limited wrist movement','An abnormal limitation of the mobility of the wrist.'),('HP:0006251','Limited wrist extension',''),('HP:0006252','Interphalangeal joint erosions',''),('HP:0006253','Swelling of proximal interphalangeal joints',''),('HP:0006254','Elevated alpha-fetoprotein','An increased concentration of alpha-fetoprotein.'),('HP:0006256','Abnormality of hand joint mobility',''),('HP:0006257','Abnormality of carpal bone ossification',''),('HP:0006261','Abnormal phalangeal joint morphology of the hand',''),('HP:0006262','Aplasia/Hypoplasia of the 5th finger','A small/hypoplastic or absent/aplastic 5th finger.'),('HP:0006263','Abnormality of the epiphyses of the 2nd finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.'),('HP:0006264','Aplasia/Hypoplasia of the 2nd finger','A small/hypoplastic or absent/aplastic 2nd finger.'),('HP:0006265','Aplasia/Hypoplasia of fingers','Small/hypoplastic or absent/aplastic fingers.'),('HP:0006266','Small placenta','Reduced size of the placenta.'),('HP:0006267','Large placenta','Increased size of the placenta.'),('HP:0006268','Fluctuating splenomegaly','Intermittently increased size of the spleen.'),('HP:0006270','Hypoplastic spleen','Underdevelopment of the spleen.'),('HP:0006273','Pancreatic lymphangiectasis','The presence of lymphangiectasis in the pancreas.'),('HP:0006274','Reduced pancreatic beta cells','Reduced number of beta cells in the pancreatic islets of Langerhans.'),('HP:0006276','Hyperechogenic pancreas',''),('HP:0006277','Pancreatic hyperplasia','Hyperplasia of the pancreas.'),('HP:0006278','Ectopic pancreatic tissue','The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.'),('HP:0006279','Beta-cell dysfunction',''),('HP:0006280','Chronic pancreatitis','A chronic form of pancreatitis.'),('HP:0006282','Generalized hypoplasia of dental enamel','A generalized form of developmental hypoplasia of the dental enamel.'),('HP:0006283','Multiple unerupted teeth','The presence of multiple embedded tooth germs which have failed to erupt.'),('HP:0006285','Hypomineralization of enamel','A decreased amount of enamel mineralization.'),('HP:0006286','Yellow-brown discoloration of the teeth',''),('HP:0006288','Advanced eruption of teeth','Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.'),('HP:0006289','Agenesis of central incisor','Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.'),('HP:0006290','Discolored lateral incisors','The presence of discolored lateral incisors.'),('HP:0006291','Marked delay in eruption of permanent teeth',''),('HP:0006292','Abnormality of dental eruption','An abnormality of tooth eruption.'),('HP:0006293','Agenesis of maxillary central incisor','Agenesis of upper secondary incisor or of upper central primary incisor.'),('HP:0006297','Hypoplasia of dental enamel','Developmental hypoplasia of the dental enamel.'),('HP:0006298','Prolonged bleeding after dental extraction','Prolonged bleeding post dental extraction sufficient to require medical intervention.'),('HP:0006302','Dagger-shaped pulp calcifications','Dagger-shaped calcifications in the dental pulp.'),('HP:0006304','Widely-spaced incisors',''),('HP:0006308','Atrophy of alveolar ridges',''),('HP:0006311','Generalized microdontia','A generalized form of microdontia.'),('HP:0006313','Widely spaced primary teeth','Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.'),('HP:0006315','Single median maxillary incisor','The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.'),('HP:0006316','Irregularly spaced teeth','Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.'),('HP:0006321','Multiple non-erupting secondary teeth',''),('HP:0006323','Premature loss of primary teeth','Loss of the primary (also known as deciduous) teeth before the usual age.'),('HP:0006326','Buried teeth encased in mucopolysaccharide',''),('HP:0006329','Alveolar process hypoplasia','Underdevelopment of the alveolar process (also known as alveolar bone).'),('HP:0006330','Rotated maxillary central incisors',''),('HP:0006332','Supernumerary maxillary incisor','The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.'),('HP:0006333','Crowded maxillary incisors','A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.'),('HP:0006334','Hypoplasia of the primary teeth','Developmental hypoplasia of the primary teeth.'),('HP:0006335','Persistence of primary teeth','Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.'),('HP:0006336','Short dental roots','Short dental root.'),('HP:0006337','Premature eruption of permanent teeth','Premature tooth eruption of the permanent dentition.'),('HP:0006338','Malformation of mandibular premolar','An abnormality of the morphology of secondary premolar tooth.'),('HP:0006339','Conical mandibular incisor','An abnormal conical morphology of the primary or permanent mandibular incisors.'),('HP:0006342','Peg-shaped maxillary lateral incisors','Peg-shaped upper lateral secondary incisor tooth.'),('HP:0006344','Abnormality of primary molar morphology','An abnormality of morphology of primary molar.'),('HP:0006346','Screwdriver-shaped incisors','An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.'),('HP:0006347','Microdontia of primary teeth','Decreased size of the primary teeth.'),('HP:0006349','Agenesis of permanent teeth','A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.'),('HP:0006350','Obliteration of the pulp chamber','Obliteration of the pulp chambers owing to mineralization of the dental pulp.'),('HP:0006352','Failure of eruption of permanent teeth','Lack of tooth eruption of the secondary dentition.'),('HP:0006353','Hypoplasia of the tooth germ','Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.'),('HP:0006355','Agenesis of mandibular central incisor','Agenesis of lower secondary incisor or lower primary incisor.'),('HP:0006357','Premature loss of permanent teeth','Premature loss of the permanent teeth.'),('HP:0006358','Shovel-shaped maxillary central incisors','Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors.'),('HP:0006361','Irregular femoral epiphysis',''),('HP:0006362','Varus deformity of humeral neck',''),('HP:0006366','Adductor longus contractures',''),('HP:0006367','Crumpled long bones','An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.'),('HP:0006368','Forearm reduction defects',''),('HP:0006369','Irregular patellae','An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.'),('HP:0006370','Distal ulnar epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.'),('HP:0006371','Broad long bone diaphyses','Increased width of the diaphysis of long bones.'),('HP:0006375','Dumbbell-shaped femur','The femur is shortened and displays flaring (widening) of the metaphyses.'),('HP:0006376','Limited elbow flexion',''),('HP:0006378','Osteolysis of patellae',''),('HP:0006379','Proximal tibial hypoplasia',''),('HP:0006380','Knee flexion contracture','A bent (flexed) knee joint that cannot be straightened actively or passively.'),('HP:0006381','Rudimentary fibula','Absent or nearly absent fibula. (Does not include aplastic)'),('HP:0006383','Progressive bowing of long bones','Progressive bending or abnormal curvature of a long bone.'),('HP:0006384','Club-shaped distal femur','An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.'),('HP:0006385','Short lower limbs','Shortening of the legs related to developmental hypoplasia of the bones of the leg.'),('HP:0006386','Hypoplastic distal radial epiphyses','Underdevelopment of the distal epiphysis of the radius.'),('HP:0006387','Wide distal femoral metaphysis','Increased width of the distal part of the shaft (metaphysis) of the femur.'),('HP:0006389','Limited knee flexion',''),('HP:0006390','Anterior tibial bowing','An abnormal anterior bending or curvature of the tibia.'),('HP:0006391','Overtubulated long bones','Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.'),('HP:0006392','Increased density of long bones','An abnormal increase in the bone density of the long bones.'),('HP:0006394','Limited pronation/supination of forearm','A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).'),('HP:0006397','Lateral displacement of patellae',''),('HP:0006398','Flat distal femoral epiphysis','An abnormal flattening of the distal epiphysis of femur.'),('HP:0006400','Absent knee epiphyses',''),('HP:0006402','Distal shortening of limbs',''),('HP:0006406','Club-shaped proximal femur','An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.'),('HP:0006407','Irregular distal femoral epiphysis','Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.'),('HP:0006408','Distal tapering femur',''),('HP:0006409','Progressive leg bowing','Progressive bending or abnormal curvature of the leg.'),('HP:0006413','Broad tibial metaphyses',''),('HP:0006414','Distal tibial bowing','A bending or abnormal curvature of the distal portion of the tibia.'),('HP:0006415','Cortically dense long tubular bones','Increased density of the compact bone of long bone.'),('HP:0006417','Broad femoral metaphyses',''),('HP:0006420','Asymmetric radial dysplasia','The presence of asymmetric developmental dysplasia of the radius.'),('HP:0006423','Peg-like central prominence of distal tibial metaphyses',''),('HP:0006424','Elongated radius','Increased length of the radius.'),('HP:0006426','Rudimentary to absent tibiae',''),('HP:0006429','Broad femoral neck','An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0006431','Proximal femoral metaphyseal abnormality','An anomaly of the metaphysis of the proximal femur (close to the hip).'),('HP:0006432','Trapezoidal distal femoral condyles',''),('HP:0006433','Radial dysplasia','Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.'),('HP:0006434','Hypoplasia of proximal radius','Proximal radial shortening owing to a congenital defect of development.'),('HP:0006436','obsolete Shortening of the tibia',''),('HP:0006437','Disproportionate prominence of the femoral medial condyle',''),('HP:0006438','Enlargement of the distal femoral epiphysis','An abnormal enlargement of the distal epiphysis of the femur.'),('HP:0006439','Radioulnar dislocation',''),('HP:0006440','Increased density of long bone diaphyses',''),('HP:0006441','Lateral humeral condyle aplasia',''),('HP:0006442','Hypoplasia of proximal fibula','Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.'),('HP:0006443','Patellar aplasia','Absence of the patella.'),('HP:0006446','Dysplastic patella',''),('HP:0006449','Distal radial epiphyseal osteolysis',''),('HP:0006450','Multicentric ossification of proximal femoral epiphyses',''),('HP:0006453','Lateral displacement of the femoral head','A developmental anomaly with lateral displacement of the femoral head.'),('HP:0006454','Delayed patellar ossification','Formation of bone in the patella later than normal.'),('HP:0006456','Irregular proximal tibial epiphyses','Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.'),('HP:0006459','Dorsal subluxation of ulna','Partial dislocation of the ulna in the dorsal direction.'),('HP:0006460','Increased laxity of ankles',''),('HP:0006461','Proximal femoral epiphysiolysis','Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.'),('HP:0006462','Generalized bone demineralization','A generalized decrease in bone mineral density.'),('HP:0006463','Rickets of the lower limbs',''),('HP:0006465','Periosteal thickening of long tubular bones','Thickening of the periosteum of long bone.'),('HP:0006466','Ankle flexion contracture','A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.'),('HP:0006467','Limited shoulder movement','A limitation of the range of movement of the shoulder joint.'),('HP:0006470','Thin long bone diaphyses','Decreased width of the diaphysis of long bones.'),('HP:0006471','Fixed elbow flexion',''),('HP:0006473','Anterior bowing of long bones','An abnormal anterior curvature of a long bone.'),('HP:0006476','Abnormality of the pancreatic islet cells','An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.'),('HP:0006477','Abnormality of the alveolar ridges','Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.'),('HP:0006479','Abnormality of the dental pulp','An abnormality of the dental pulp.'),('HP:0006480','Premature loss of teeth','Premature loss of teeth not related to trauma or neglect.'),('HP:0006481','Abnormality of primary teeth','Any abnormality of the primary tooth.'),('HP:0006482','Abnormality of dental morphology','An abnormality of the morphology of the tooth.'),('HP:0006483','Abnormal number of teeth','The presence of an altered number of of teeth.'),('HP:0006485','Agenesis of incisor','Agenesis of incisor.'),('HP:0006486','Abnormality of the dental root','An abnormality of the dental root.'),('HP:0006487','Bowing of the long bones','A bending or abnormal curvature of a long bone.'),('HP:0006488','Bowing of the arm','A bending or abnormal curvature affecting a long bone of the arm.'),('HP:0006489','Abnormality of the femoral metaphysis','An anomaly of the femoral metaphysis.'),('HP:0006490','Abnormality of lower-limb metaphyses',''),('HP:0006491','Abnormality of the tibial metaphysis',''),('HP:0006492','Aplasia/Hypoplasia of the fibula','Absence or underdevelopment of the fibula.'),('HP:0006493','Aplasia/hypoplasia involving bones of the lower limbs','Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.'),('HP:0006494','Aplasia/Hypoplasia involving bones of the feet',''),('HP:0006495','Aplasia/Hypoplasia of the ulna','Absence or underdevelopment of the ulna.'),('HP:0006496','Aplasia/hypoplasia involving bones of the upper limbs','Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.'),('HP:0006498','Aplasia/Hypoplasia of the patella','Absence or underdevelopment of the patella.'),('HP:0006499','Abnormality of femoral epiphysis','An anomaly of a growth plate of a femur.'),('HP:0006500','Abnormality of lower limb epiphysis morphology','An anomaly of one or more epiphyses of one or both legs.'),('HP:0006501','Aplasia/Hypoplasia of the radius','A small/hypoplastic or absent/aplastic radius.'),('HP:0006502','Aplasia/Hypoplasia involving the carpal bones','Absence or underdevelopment of the carpal bones.'),('HP:0006503','Aplasia/hypoplasia involving forearm bones','Absence (due to failure to form) or underdevelopment of one or more forearm bones.'),('HP:0006504','obsolete Anomaly of the limb diaphyses morphology',''),('HP:0006505','Abnormality of limb epiphysis morphology','An anomaly of one or more epiphyses of a limb.'),('HP:0006507','Aplasia/hypoplasia of the humerus','Absence (due to failure to form) or underdevelopment of the humerus.'),('HP:0006508','Abnormality of tibial epiphyses',''),('HP:0006509','Diverticulosis of trachea',''),('HP:0006510','Chronic pulmonary obstruction','An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.'),('HP:0006511','Laryngeal stridor','An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.'),('HP:0006514','Intraalveolar nodular calcifications',''),('HP:0006515','Interstitial pneumonitis',''),('HP:0006516','Hypersensitivity pneumonitis',''),('HP:0006517','Alveolar proteinosis','Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates.'),('HP:0006518','Pulmonary venous occlusion','Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.'),('HP:0006519','Alveolar cell carcinoma','Adenocarcinoma of the Bronchus.'),('HP:0006520','Progressive pulmonary function impairment',''),('HP:0006521','Pulmonary lymphangiectasia','Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.'),('HP:0006522','Repeated pneumothoraces',''),('HP:0006524','Tracheobronchial leiomyomatosis',''),('HP:0006525','obsolete Lung segmentation defects',''),('HP:0006527','Lymphoid interstitial pneumonia','A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells.'),('HP:0006528','Chronic lung disease','According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.'),('HP:0006529','Abnormal pulmonary lymphatics','An abnormality of the pulmonary lymphatic chain.'),('HP:0006530','Interstitial pulmonary abnormality','Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.'),('HP:0006531','Pleural lymphangiectasia',''),('HP:0006532','Recurrent pneumonia','An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.'),('HP:0006533','Bronchodysplasia',''),('HP:0006535','Recurrent intrapulmonary hemorrhage','A recurrent hemorrhage occurring within the lung.'),('HP:0006536','Pulmonary obstruction','Obstruction of conducting airways of the lung.'),('HP:0006538','Recurrent bronchopulmonary infections','An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.'),('HP:0006539','Bronchial cartilage hypoplasia',''),('HP:0006541','obsolete Chronic obstructive airway disease from birth',''),('HP:0006543','Cardiorespiratory arrest',''),('HP:0006544','Extrapulmonary sequestrum','A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.'),('HP:0006548','Pulmonary arteriovenous malformation','Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.'),('HP:0006549','Unilateral primary pulmonary dysgenesis',''),('HP:0006552','Fibrocystic lung disease',''),('HP:0006554','Acute hepatic failure','Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.'),('HP:0006555','Diffuse hepatic steatosis','A diffuse form of hepatic steatosis.'),('HP:0006557','Polycystic liver disease',''),('HP:0006558','Decreased mitochondrial complex III activity in liver tissue','Decreased activity of complex III of the mitochondrion in the liver.'),('HP:0006559','Hepatic calcification','The presence of abnormal calcium deposition in the liver.'),('HP:0006560','Biliary hyperplasia','Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.'),('HP:0006561','Lipid accumulation in hepatocytes',''),('HP:0006562','Viral hepatitis','Inflammation of the liver due to infection with a virus.'),('HP:0006563','Malformation of the hepatic ductal plate',''),('HP:0006564','Fluctuating hepatomegaly','Intermittently increased size of the liver.'),('HP:0006565','Increased hepatocellular lipid droplets','An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.'),('HP:0006566','Neonatal cholestatic liver disease',''),('HP:0006568','Increased hepatic glycogen content','An increase in the amount of glycogen stored in hepatocytes compared to normal.'),('HP:0006571','Reduced number of intrahepatic bile ducts','The presence of reduced numbers of intrahepatic bile duct than normal.'),('HP:0006572','Subacute progressive viral hepatitis',''),('HP:0006573','Acute hepatic steatosis','An acute form of hepatic steatosis.'),('HP:0006574','Hepatic arteriovenous malformation',''),('HP:0006575','Intrahepatic cholestasis with episodic jaundice',''),('HP:0006576','Hepatic vascular malformations',''),('HP:0006577','Macronodular cirrhosis','A type of cirrhosis characterized by the presence of large regenerative nodules.'),('HP:0006579','Prolonged neonatal jaundice','Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.'),('HP:0006580','Portal fibrosis','Fibroblast proliferation and fiber expansion from the portal areas to the lobule.'),('HP:0006581','Depletion of mitochondrial DNA in liver','An abnormal reduction in the number of mitochondria in hepatocytes.'),('HP:0006582','Reye syndrome-like episodes','Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.'),('HP:0006583','Fatal liver failure in infancy',''),('HP:0006584','Small abnormally formed scapulae',''),('HP:0006585','Congenital pseudoarthrosis of the clavicle','The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.'),('HP:0006587','Straight clavicles','An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .'),('HP:0006589','Flaring of lower rib cage',''),('HP:0006590','Premature sternal synostosis','Prematurely closed sternal sutures.'),('HP:0006591','Absent glenoid fossa','Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.'),('HP:0006593','Anomalous rib insertion to vertebrae',''),('HP:0006595','Scapulohumeral synostosis','Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.'),('HP:0006596','Restricted chest movement',''),('HP:0006597','Diaphragmatic paralysis','The presence of a paralyzed diaphragm.'),('HP:0006598','Irregular ossification at anterior rib ends',''),('HP:0006599','Medial widening of clavicles',''),('HP:0006600','Progressive calcification of costochondral cartilage',''),('HP:0006603','Flared, irregular rib ends',''),('HP:0006606','Irregular chondrocostal junctions','Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.'),('HP:0006607','Precocious costochondral ossification','Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.'),('HP:0006608','Midclavicular hypoplasia','Underdevelopment of the middle portion of the clavicle.'),('HP:0006610','Wide intermamillary distance','A larger than usual distance between the left and right nipple.'),('HP:0006611','Decreased number of sternal ossification centers','A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.'),('HP:0006615','Absent in utero rib ossification','Lack of formation and mineralization of the ribs in utero.'),('HP:0006619','Anterior rib punctate calcifications','Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.'),('HP:0006623','Costochondral joint sclerosis','Abnormal increase in density of the tissue at the costochondral junctions.'),('HP:0006625','Multifocal breast carcinoma','Breast carcinoma that is bilateral or otherwise multifocal.'),('HP:0006628','Absent sternal ossification','Lack of formation of mineralized bony tissue of the sternum.'),('HP:0006631','Hypoplastic distal segments of scapulae',''),('HP:0006633','Glenoid fossa hypoplasia','Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.'),('HP:0006634','Osteosclerosis of ribs','Osteosclerosis of ribs (increased density related to increased bone mass).'),('HP:0006637','Sternal punctate calcifications',''),('HP:0006638','Midclavicular aplasia','Developmental defect resulting in congenital absence of the middle portion of the clavicle.'),('HP:0006640','Multiple rib fractures','More than one fracture of the ribs.'),('HP:0006641','Prominent floating ribs',''),('HP:0006642','Large sternal ossification centers',''),('HP:0006643','Fused sternal ossification centers',''),('HP:0006644','Thoracic dysplasia',''),('HP:0006645','Thin clavicles','Abnormally reduced diameter (cross section) of the clavicles.'),('HP:0006646','Costal cartilage calcification','Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.'),('HP:0006647','Congenital microthorax',''),('HP:0006649','Costochondral pain','Chest wall pain in the area of the costochondral junctions.'),('HP:0006650','Thickening of the lateral border of the scapula',''),('HP:0006655','Rib segmentation abnormalities',''),('HP:0006657','Hypoplasia of first ribs',''),('HP:0006659','Internally rotated shoulders',''),('HP:0006660','Aplastic clavicle','Absence of the clavicles as a developmental defect.'),('HP:0006665','Coat hanger sign of ribs','An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).'),('HP:0006668','Twelfth rib hypoplasia',''),('HP:0006670','Impaired myocardial contractility',''),('HP:0006671','Paroxysmal atrial tachycardia',''),('HP:0006673','Reduced systolic function',''),('HP:0006677','Prolonged QRS complex','Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.'),('HP:0006679','Granulomatous coronary arteritis','Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.'),('HP:0006681','Absent atrioventricular node',''),('HP:0006682','Ventricular extrasystoles','Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.'),('HP:0006683','Abnormal ventricular filling','An abnormality of filling of a ventricle with blood during diastole.'),('HP:0006684','Ventricular preexcitation with multiple accessory pathways','A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.'),('HP:0006685','Endocardial fibrosis','The presence of excessive connective tissue in the endocardium.'),('HP:0006687','Aortic tortuosity','Abnormal tortuous (i.e., twisted) form of the aorta.'),('HP:0006688','Paroxysmal tachycardia',''),('HP:0006689','Bacterial endocarditis','A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.'),('HP:0006690','Myocardial calcification','Calcium deposition in the myocardium.'),('HP:0006691','Pulmonic valve myxoma',''),('HP:0006692','Short chordae tendineae of the tricuspid valve','Abnormally short chordae tendineae of the tricuspid valve.'),('HP:0006693','Myocardial steatosis','Steatosis in the myocardium.'),('HP:0006694','Early progressive calcific cardiac valvular disease',''),('HP:0006695','Atrioventricular canal defect','A defect of the atrioventricular septum of the heart.'),('HP:0006696','Polymorphic and polytopic ventricular extrasystoles',''),('HP:0006698','Dilatation of the ventricular cavity','A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.'),('HP:0006699','Premature atrial contractions','A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.'),('HP:0006702','Coronary artery dissection','Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.'),('HP:0006703','Aplasia/Hypoplasia of the lungs',''),('HP:0006704','Abnormal coronary artery morphology','Any structural abnormality of the coronary arteries.'),('HP:0006705','Abnormal atrioventricular valve morphology','An abnormality of an atrioventricular valve.'),('HP:0006706','Cystic liver disease',''),('HP:0006707','Abnormality of the hepatic vasculature','An abnormality of the hepatic vasculature.'),('HP:0006709','Aplasia/Hypoplasia of the nipples',''),('HP:0006710','Aplasia/Hypoplasia of the clavicles','Absence or underdevelopment of the clavicles (collar bones).'),('HP:0006711','Aplasia/Hypoplasia involving bones of the thorax',''),('HP:0006712','Aplasia/Hypoplasia of the ribs',''),('HP:0006713','Aplasia/Hypoplasia of the scapulae',''),('HP:0006714','Aplasia/Hypoplasia of the sternum',''),('HP:0006715','Glomus tympanicum paraganglioma',''),('HP:0006716','Hereditary nonpolyposis colorectal carcinoma',''),('HP:0006717','Peripheral neuroepithelioma',''),('HP:0006719','Benign gastrointestinal tract tumors',''),('HP:0006721','Acute lymphoblastic leukemia','A form of acute leukemia characterized by excess lympoblasts.'),('HP:0006722','Small intestine carcinoid',''),('HP:0006723','Intestinal carcinoid',''),('HP:0006725','Pancreatic adenocarcinoma','The presence of an adenocarcinoma of the pancreas.'),('HP:0006727','T-cell acute lymphoblastic leukemias','Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.'),('HP:0006729','Retroperitoneal chemodectomas',''),('HP:0006731','Follicular thyroid carcinoma','The presence of an follicular adenocarcinoma of the thyroid gland.'),('HP:0006732','Papillary renal cell carcinoma type 2','A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.'),('HP:0006733','Acute megakaryocytic leukemia','A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.'),('HP:0006735','Renal cortical adenoma','The presence of an adenoma in the cortex of the kidney.'),('HP:0006737','Extraadrenal pheochromocytoma','Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.'),('HP:0006739','Squamous cell carcinoma of the skin','Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.'),('HP:0006740','Transitional cell carcinoma of the bladder','The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.'),('HP:0006742','Congenital neuroblastoma',''),('HP:0006743','Embryonal rhabdomyosarcoma',''),('HP:0006744','Adrenocortical carcinoma','A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.'),('HP:0006747','Ganglioneuroblastoma',''),('HP:0006748','Adrenal pheochromocytoma','Pheochromocytoma originating from the adrenal medulla.'),('HP:0006749','Malignant gastrointestinal tract tumors',''),('HP:0006751','Paraspinal neurofibromas',''),('HP:0006753','Neoplasm of the stomach','A tumor (abnormal growth of tissue) of the stomach.'),('HP:0006755','Cutaneous leiomyosarcoma','The presence of leiomyosarcoma of the skin.'),('HP:0006756','Diffuse leiomyomatosis',''),('HP:0006758','Malignant genitourinary tract tumor','The presence of a malignant neoplasm of the genital system.'),('HP:0006762','Renal pelvic carcinoma','The presence of a carcinoma in the renal pelvis.'),('HP:0006763','Anal canal squamous carcinoma',''),('HP:0006765','Chondrosarcoma','A slowly growing malignant neoplasm derived from cartilage cells.'),('HP:0006766','Papillary renal cell carcinoma','The presence of renal cell carcinoma in the renal papilla.'),('HP:0006767','Pituitary prolactin cell adenoma','A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.'),('HP:0006768','Localized neuroblastoma',''),('HP:0006769','Myxoid subcutaneous tumors',''),('HP:0006770','Clear cell renal cell carcinoma','A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.'),('HP:0006771','Duodenal adenocarcinoma','A malignant epithelial tumor with a glandular organization that originates in the duodenum.'),('HP:0006772','Renal angiomyolipoma','A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.'),('HP:0006773','Cutaneous angiolipomas',''),('HP:0006774','Ovarian papillary adenocarcinoma','The presence of a papillary adenocarcinoma of the ovary.'),('HP:0006775','Multiple myeloma','A malignant plasma cell tumor growing within soft tissue or within the skeleton.'),('HP:0006778','Benign genitourinary tract neoplasm','A non-malignant neoplasm of the genitourinary system.'),('HP:0006779','Alveolar rhabdomyosarcoma',''),('HP:0006780','Parathyroid carcinoma','A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.'),('HP:0006781','Hurthle cell thyroid adenoma','A kind of thyroid adenoma characterized by the presence of oxyphil cells.'),('HP:0006782','Malignant eosinophil proliferation',''),('HP:0006783','Posterior pharyngeal cleft',''),('HP:0006784','Paranasal sinus hypoplasia','Underdevelopment of the paranasal sinuses.'),('HP:0006785','Limb-girdle muscular dystrophy','Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).'),('HP:0006789','Mitochondrial encephalopathy',''),('HP:0006790','Cerebral cortex with spongiform changes',''),('HP:0006794','Loss of ability to walk in first decade',''),('HP:0006799','Basal ganglia cysts',''),('HP:0006801','Hyperactive deep tendon reflexes',''),('HP:0006802','Abnormal anterior horn cell morphology','Any anomaly of the anterior horn cell.'),('HP:0006803','Vivid hallucinations',''),('HP:0006808','Cerebral hypomyelination','Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.'),('HP:0006812','White mater abnormalities in the posterior periventricular region',''),('HP:0006813','Focal hemiclonic seizure','A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.'),('HP:0006817','Aplasia/Hypoplasia of the cerebellar vermis','Absence or underdevelopment of the vermis of cerebellum.'),('HP:0006818','4-layered lissencephaly','A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.'),('HP:0006821','Frontal polymicrogyria','A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.'),('HP:0006824','Cranial nerve paralysis',''),('HP:0006825','Pallor of dorsal columns of the spinal cord',''),('HP:0006827','Atrophy of the spinal cord',''),('HP:0006829','Severe muscular hypotonia','A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.'),('HP:0006830','obsolete Severe neonatal hypotonia in males',''),('HP:0006834','Developmental stagnation at onset of seizures','A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.'),('HP:0006837','Congenital Horner syndrome','A type of Horner syndrome with congenital onset.'),('HP:0006844','Absent patellar reflexes','Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.'),('HP:0006846','Acute encephalopathy',''),('HP:0006849','Hypodysplasia of the corpus callosum',''),('HP:0006850','Hypoplasia of the ventral pons','Underdevelopment of the ventral portion of the pons.'),('HP:0006851','Symmetric spinal nerve root neurofibromas','Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.'),('HP:0006852','Episodic generalized hypotonia','The occurrence of repeated episodes of generalized muscular hypotonia.'),('HP:0006855','Cerebellar vermis atrophy','Wasting (atrophy) of the vermis of cerebellum.'),('HP:0006858','Impaired distal proprioception','A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.'),('HP:0006859','Posterior leukoencephalopathy',''),('HP:0006863','Severe expressive language delay','A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0006865','Sensorimotor polyneuropathy affecting arms more than legs',''),('HP:0006866','Midline central nervous system lipomas',''),('HP:0006870','Lobar holoprosencephaly','A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.'),('HP:0006872','Cerebral hypoplasia','Underdevelopment of the cerebrum.'),('HP:0006873','Symmetrical progressive peripheral demyelination','A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0006877','obsolete Mental retardation, in some',''),('HP:0006879','Pontocerebellar atrophy','Atrophy affecting the pons and the cerebellum.'),('HP:0006880','Cerebellar hemangioblastoma','A hemangioblastoma of the cerebellum.'),('HP:0006881','Diffuse peripheral demyelination','A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0006882','Severe hydrocephalus',''),('HP:0006886','Impaired distal vibration sensation','A decrease in the ability to perceive vibration in the distal portions of the limbs.'),('HP:0006887','Intellectual disability, progressive','The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.'),('HP:0006888','Meningoencephalocele',''),('HP:0006889','Intellectual disability, borderline','Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.'),('HP:0006891','Thick cerebral cortex',''),('HP:0006892','Frontotemporal cerebral atrophy','Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.'),('HP:0006893','Severely dysplastic cerebellum',''),('HP:0006894','Hypoplastic olfactory lobes',''),('HP:0006895','Lower limb hypertonia',''),('HP:0006896','Hypnopompic hallucinations',''),('HP:0006897','Cranial nerve VI palsy',''),('HP:0006899','Fusion of the cerebellar hemispheres',''),('HP:0006901','Impaired thermal sensitivity',''),('HP:0006903','Congenital peripheral neuropathy',''),('HP:0006904','Late-onset spinocerebellar degeneration',''),('HP:0006906','Congenital intracerebral calcification','The presence of calcium deposition within brain structures that is present already at the time of birth.'),('HP:0006913','Frontal cortical atrophy','Atrophy of the frontal cortex.'),('HP:0006915','Inability to walk by childhood/adolescence',''),('HP:0006916','Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material','Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.'),('HP:0006918','Diffuse cerebral sclerosis',''),('HP:0006919','Abnormal aggressive, impulsive or violent behavior',''),('HP:0006921','Axial muscle stiffness','Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.'),('HP:0006926','Metachromatic leukodystrophy variant',''),('HP:0006927','Unilateral polymicrogyria','Excessive number of small gyri (convolutions) on the surface of one side of the brain.'),('HP:0006929','Hypoglycemic encephalopathy','Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.'),('HP:0006930','Frontoparietal cortical dysplasia','The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.'),('HP:0006931','Lipoma of corpus callosum',''),('HP:0006932','Transient psychotic episodes',''),('HP:0006934','Congenital nystagmus','Nystagmus dating from or present at birth.'),('HP:0006937','Impaired distal tactile sensation','A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel`s hair brush, by asking patients to say `now` each time they feel the stimulus.'),('HP:0006938','Impaired vibration sensation at ankles','A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.'),('HP:0006943','Diffuse spongiform leukoencephalopathy',''),('HP:0006944','Abolished vibration sense','A complete loss of the ability to perceive vibration.'),('HP:0006946','Recurrent meningitis','An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.'),('HP:0006949','Episodic peripheral neuropathy',''),('HP:0006951','Retrocerebellar cyst',''),('HP:0006955','Olivopontocerebellar hypoplasia','Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.'),('HP:0006956','Dilation of lateral ventricles',''),('HP:0006957','Loss of ability to walk',''),('HP:0006958','Abnormal auditory evoked potentials','An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.'),('HP:0006959','Proximal spinal muscular atrophy','Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.'),('HP:0006960','Choroid plexus calcification','The presence of calcium deposition in the choroid plexus.'),('HP:0006961','Jerky head movements',''),('HP:0006962','Gait instability, worse in the dark',''),('HP:0006964','Cerebral cortical neurodegeneration',''),('HP:0006965','Acute necrotizing encephalopathy',''),('HP:0006970','Periventricular leukomalacia',''),('HP:0006976','Necrotizing encephalopathy','A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.'),('HP:0006977','Grammar-specific speech disorder',''),('HP:0006978','Dysmyelinating leukodystrophy',''),('HP:0006979','Sleep-wake cycle disturbance','Any abnormal alteration of an individual`s circadian rhythm that affects the timing of sleeping and being awake.'),('HP:0006980','Progressive leukoencephalopathy','Leukoencephalopathy that gets more severe with time.'),('HP:0006983','Slowly progressive spastic quadriparesis',''),('HP:0006984','Distal sensory loss of all modalities',''),('HP:0006986','Upper limb spasticity',''),('HP:0006988','Alobar holoprosencephaly','A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.'),('HP:0006989','Dysplastic corpus callosum','Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.'),('HP:0006990','Myelin-dependent gliosis','A type of gliosis that occurs in the vicinity of injured neurons.'),('HP:0006992','Anterior basal encephalocele',''),('HP:0006994','Diffuse leukoencephalopathy',''),('HP:0006999','Basal ganglia gliosis','Focal proliferation of glial cells in the basal ganglia.'),('HP:0007000','Morning myoclonic jerks',''),('HP:0007001','Loss of Purkinje cells in the cerebellar vermis',''),('HP:0007002','Motor axonal neuropathy','Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.'),('HP:0007006','Dorsal column degeneration',''),('HP:0007007','Cavitation of the basal ganglia','The formation of small cavities in the tissue of the basal ganglia.'),('HP:0007009','Central nervous system degeneration',''),('HP:0007010','Poor fine motor coordination','An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.'),('HP:0007011','Fourth cranial nerve palsy','Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.'),('HP:0007015','Poor gross motor coordination','An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.'),('HP:0007016','Corticospinal tract hypoplasia',''),('HP:0007017','Progressive forgetfulness',''),('HP:0007018','Attention deficit hyperactivity disorder','Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.'),('HP:0007020','Progressive spastic paraplegia',''),('HP:0007021','Pain insensitivity','Inability to perceive painful stimuli.'),('HP:0007023','Antenatal intracerebral hemorrhage','Cerebral hemorrhage that occurs before birth.'),('HP:0007024','Pseudobulbar paralysis','Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.'),('HP:0007027','Poorly formed metencephalon','A morphological abnormality of the metencephalon.'),('HP:0007029','Cerebral berry aneurysm','A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.'),('HP:0007030','Nonprogressive encephalopathy',''),('HP:0007033','Cerebellar dysplasia','The presence of dysplasia (abnormal growth or development) of the cerebellum. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome.'),('HP:0007034','Generalized hyperreflexia',''),('HP:0007035','Anterior encephalocele',''),('HP:0007036','Hypoplasia of olfactory tract',''),('HP:0007039','Symmetric lesions of the basal ganglia',''),('HP:0007041','Chronic lymphocytic meningitis','Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).'),('HP:0007042','Focal white matter lesions',''),('HP:0007045','Midline brain calcifications',''),('HP:0007047','Atrophy of the dentate nucleus','Partial or complete wasting (loss) of dentate nucleus.'),('HP:0007048','Large basal ganglia','Increased size of the basal ganglia.'),('HP:0007052','Multifocal cerebral white matter abnormalities',''),('HP:0007054','Hyperreflexia proximally',''),('HP:0007057','Poor hand-eye coordination',''),('HP:0007058','Generalized cerebral atrophy/hypoplasia','Generalized atrophy or hypoplasia of the cerebrum.'),('HP:0007063','Aplasia of the inferior half of the cerebellar vermis',''),('HP:0007064','Progressive language deterioration','Progressive loss of previously present language abilities.'),('HP:0007065','Disorganization of the anterior cerebellar vermis',''),('HP:0007066','Proximal limb muscle stiffness',''),('HP:0007067','Distal peripheral sensory neuropathy','Peripheral sensory neuropathy affecting primarily distal sensation.'),('HP:0007068','Inferior vermis hypoplasia','Underdevelopment of the inferior portion of the vermis of cerebellum.'),('HP:0007069','Profound static encephalopathy',''),('HP:0007074','Thick corpus callosum','Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.'),('HP:0007076','Extrapyramidal muscular rigidity','Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).'),('HP:0007078','Decreased amplitude of sensory action potentials','A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.'),('HP:0007081','Late-onset muscular dystrophy',''),('HP:0007082','Dilated third ventricle','An increase in size of the third ventricle.'),('HP:0007083','Hyperactive patellar reflex',''),('HP:0007086','Social and occupational deterioration',''),('HP:0007087','obsolete Involuntary jerking movements',''),('HP:0007089','Facial-lingual fasciculations','Fasciculations affecting the tongue muscle and the musculature of the face.'),('HP:0007095','Frontoparietal polymicrogyria','An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region.'),('HP:0007096','Hypoplasia of the optic tract',''),('HP:0007097','Cranial nerve motor loss',''),('HP:0007098','Paroxysmal choreoathetosis','Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.'),('HP:0007099','Arnold-Chiari type I malformation','Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle.'),('HP:0007100','Progressive ventriculomegaly',''),('HP:0007103','Hypointensity of cerebral white matter on MRI','A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.'),('HP:0007104','Prolonged somatosensory evoked potentials',''),('HP:0007105','Infantile encephalopathy','Encephalopathy with onset in the infantile period.'),('HP:0007107','Segmental peripheral demyelination','A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.'),('HP:0007108','Demyelinating peripheral neuropathy','Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.'),('HP:0007109','Periventricular cysts',''),('HP:0007110','Central hypoventilation',''),('HP:0007111','Chronic hepatic encephalopathy',''),('HP:0007112','Temporal cortical atrophy','Atrophy of the temporal cortex.'),('HP:0007115','Orbital encephalocele',''),('HP:0007117','Corticospinal tract atrophy',''),('HP:0007123','Subcortical dementia','A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.'),('HP:0007126','Proximal amyotrophy','Amyotrophy (muscular atrophy) affecting the proximal musculature.'),('HP:0007129','Cerebellar medulloblastoma',''),('HP:0007131','Acute demyelinating polyneuropathy','Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.'),('HP:0007132','Pallidal degeneration','Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.'),('HP:0007133','Progressive peripheral neuropathy',''),('HP:0007141','Sensorimotor neuropathy',''),('HP:0007146','Bilateral basal ganglia lesions',''),('HP:0007149','Distal upper limb amyotrophy','Muscular atrophy of distal arm muscles.'),('HP:0007153','Progressive extrapyramidal movement disorder',''),('HP:0007156','Asymmetric limb muscle stiffness','Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.'),('HP:0007158','Progressive extrapyramidal muscular rigidity','A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).'),('HP:0007159','Fluctuations in consciousness',''),('HP:0007162','Diffuse demyelination of the cerebral white matter','A diffuse loss of myelin from nerve fibers in the central nervous system.'),('HP:0007163','obsolete Corticospinal tract disease in lower limbs',''),('HP:0007164','Slowed slurred speech',''),('HP:0007165','Periventricular heterotopia','A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.'),('HP:0007166','Paroxysmal dyskinesia','Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.'),('HP:0007178','Motor polyneuropathy',''),('HP:0007179','Absent smooth pursuit','A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.'),('HP:0007181','Interosseus muscle atrophy','Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.'),('HP:0007182','Peripheral hypomyelination','Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.'),('HP:0007183','Focal T2 hyperintense basal ganglia lesion','A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.'),('HP:0007185','Loss of consciousness',''),('HP:0007187','Focal lissencephaly','A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.'),('HP:0007188','Congenital facial diplegia','Facial diplegia (that is, bilateral facial palsy) with congenital onset.'),('HP:0007190','Neuronal loss in the cerebral cortex',''),('HP:0007193','Generalized tonic-clonic seizures on awakening','Generalized tonic-clonic seizures on awakening are a form of Generalized tonic-clonic seizures that occur upon awaking.'),('HP:0007199','Progressive spastic paraparesis',''),('HP:0007200','Episodic hypersomnia',''),('HP:0007201','Cerebral artery atherosclerosis','Atherosclerosis (HP:0002621) of a cerebral artery.'),('HP:0007204','Diffuse white matter abnormalities',''),('HP:0007206','Hemimegalencephaly','Enlargement of all or parts of one cerebral hemisphere.'),('HP:0007207','Photosensitive tonic-clonic seizure','Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.'),('HP:0007208','Irregular myelin loops','Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.'),('HP:0007209','Facial paralysis','Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).'),('HP:0007210','Lower limb amyotrophy','Muscular atrophy affecting the lower limb.'),('HP:0007215','Periodic hyperkalemic paralysis','Episodes of muscle weakness associated with elevated levels of potassium in the blood.'),('HP:0007220','Demyelinating motor neuropathy','Demyelination of peripheral motor nerves.'),('HP:0007221','Progressive truncal ataxia',''),('HP:0007227','Macrogyria','Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.'),('HP:0007229','Intracerebral periventricular calcifications','The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.'),('HP:0007230','Decreased distal sensory nerve action potential','A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.'),('HP:0007232','Spinocerebellar tract disease in lower limbs',''),('HP:0007233','Clusters of axonal regeneration','Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.'),('HP:0007236','Recurrent subcortical infarcts',''),('HP:0007238','Nonarteriosclerotic cerebral calcification',''),('HP:0007239','Congenital encephalopathy',''),('HP:0007240','Progressive gait ataxia','A type of gait ataxia displaying progression of clinical severity.'),('HP:0007249','Decreased number of small peripheral myelinated nerve fibers',''),('HP:0007250','Recurrent external ophthalmoplegia','Alternating and recurrent weakness of the external ocular muscles.'),('HP:0007256','Abnormal pyramidal sign','Functional neurological abnormalities related to dysfunction of the pyramidal tract.'),('HP:0007258','Severe demyelination of the white matter','A severe loss of myelin from nerve fibers in the central nervous system.'),('HP:0007260','Type II lissencephaly','A form of lissencephaly characterized by an uneven cortical surface with a so called `cobblestone` appearace. There are no distinguishable cortical layers.'),('HP:0007262','Symmetric peripheral demyelination','A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0007263','Spinocerebellar atrophy','Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.'),('HP:0007265','Absent mesencephalon','Agenesis of the midbrain.'),('HP:0007266','Cerebral dysmyelination','Defective structure and function of myelin sheaths of the white matter of the brain.'),('HP:0007267','Chronic axonal neuropathy','An abnormality characterized by chronic impairment of the normal functioning of the axons.'),('HP:0007268','Aprosencephaly',''),('HP:0007269','Spinal muscular atrophy','Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.'),('HP:0007270','Atypical absence seizure','An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.'),('HP:0007271','Occipital myelomeningocele',''),('HP:0007272','Progressive psychomotor deterioration',''),('HP:0007274','Recurrent bacterial meningitis','An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.'),('HP:0007277','Paucity of anterior horn motor neurons',''),('HP:0007280','Acute infantile spinal muscular atrophy',''),('HP:0007281','Developmental stagnation','A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.'),('HP:0007285','Facial palsy secondary to cranial hyperostosis','Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.'),('HP:0007286','Horizontal jerk nystagmus','Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.'),('HP:0007289','Limb fasciculations','Fasciculations affecting the musculature of the arms and legs.'),('HP:0007291','Posterior fossa cyst','A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.'),('HP:0007293','Anterior sacral meningocele',''),('HP:0007295','Chaotic rapid conjugate ocular movements',''),('HP:0007299','Dysfunction of lateral corticospinal tracts',''),('HP:0007301','Oromotor apraxia',''),('HP:0007302','Bipolar affective disorder',''),('HP:0007305','CNS demyelination','A loss of myelin from nerve fibers in the central nervous system.'),('HP:0007307','Rapid neurologic deterioration',''),('HP:0007308','Extrapyramidal dyskinesia',''),('HP:0007311','Short stepped shuffling gait',''),('HP:0007313','Cerebral degeneration',''),('HP:0007314','obsolete White matter neuronal heterotopia',''),('HP:0007316','obsolete Involuntary writhing movements',''),('HP:0007321','Deep white matter hypodensities','Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.'),('HP:0007325','Generalized dystonia','A type of dystonia that affects all or most of the body.'),('HP:0007326','Progressive choreoathetosis',''),('HP:0007327','Mixed demyelinating and axonal polyneuropathy',''),('HP:0007328','Impaired pain sensation','Reduced ability to perceive painful stimuli.'),('HP:0007330','Frontal encephalocele',''),('HP:0007332','Focal hemifacial clonic seizure','Focal seizure characterized at onset by clonic movements affecting half of the face.'),('HP:0007333','Hypoplasia of the frontal lobes','Underdevelopment of the frontal lobe of the cerebrum.'),('HP:0007334','Bilateral tonic-clonic seizure with focal onset','A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.'),('HP:0007335','Recurrent encephalopathy','Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.'),('HP:0007338','Hypermetric saccades','A saccade that overshoots the target with the dynamic saccade.'),('HP:0007340','Lower limb muscle weakness','Weakness of the muscles of the legs.'),('HP:0007341','Diffuse swelling of cerebral white matter',''),('HP:0007343','Abnormal morphology of the limbic system','Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn`t correspond closely to the anatomical meaning any longer. [BirnLex].'),('HP:0007344','Atrophy/Degeneration involving the spinal cord',''),('HP:0007346','Subcortical white matter calcifications',''),('HP:0007348','Hypoplasia of the pyramidal tract',''),('HP:0007350','Hyperreflexia in upper limbs',''),('HP:0007351','Upper limb postural tremor','A type of tremors that is triggered by holding an arm in a fixed position.'),('HP:0007352','Cerebellar calcifications',''),('HP:0007354','Amyotrophic lateral sclerosis',''),('HP:0007359','Focal-onset seizure','A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.'),('HP:0007360','Aplasia/Hypoplasia of the cerebellum',''),('HP:0007361','Abnormality of the pons','An abnormality of the pons.'),('HP:0007362','Aplasia/Hypoplasia of the brainstem',''),('HP:0007363','Aplasia/Hypoplasia of the pyramidal tract',''),('HP:0007364','Aplasia/Hypoplasia of the cerebrum',''),('HP:0007365','Aplasia/Hypoplasia involving the corticospinal tracts',''),('HP:0007366','Atrophy/Degeneration affecting the brainstem',''),('HP:0007367','Atrophy/Degeneration affecting the central nervous system',''),('HP:0007369','Atrophy/Degeneration affecting the cerebrum','The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.'),('HP:0007370','Aplasia/Hypoplasia of the corpus callosum','Absence or underdevelopment of the corpus callosum.'),('HP:0007371','Corpus callosum atrophy','The presence of atrophy (wasting) of the corpus callosum.'),('HP:0007372','Atrophy/Degeneration involving the corticospinal tracts',''),('HP:0007373','Motor neuron atrophy','Wasting involving the motor neuron.'),('HP:0007374','Atrophy/Degeneration involving the caudate nucleus',''),('HP:0007375','Abnormality of the septum pellucidum','An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.'),('HP:0007376','Abnormality of the choroid plexus','An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.'),('HP:0007377','Abnormality of somatosensory evoked potentials','An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.'),('HP:0007378','Neoplasm of the gastrointestinal tract','A tumor (abnormal growth of tissue) of the gastrointestinal tract.'),('HP:0007379','Neoplasm of the genitourinary tract','A tumor (abnormal growth of tissue) of the genitourinary system.'),('HP:0007380','Facial telangiectasia','Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.'),('HP:0007381','Congenital exfoliative erythroderma',''),('HP:0007383','Congenital localized absence of skin',''),('HP:0007384','Aberrant melanosome maturation',''),('HP:0007385','Aplasia cutis congenita of scalp','A developmental defect resulting in the congenital absence of skin on the scalp.'),('HP:0007387','Hypoplastic sweat glands','Underdevelopment of the sweat glands.'),('HP:0007390','Hyperkeratosis with erythema',''),('HP:0007392','Excessive wrinkled skin',''),('HP:0007394','Prominent superficial blood vessels',''),('HP:0007395','Postnatal-onset ichthyosiform erythroderma','A type of ichthyosiform erythroderma with postnatal onset.'),('HP:0007396','Early cutaneous photosensitivity','Photosensitivity of the skin occurring early in life.'),('HP:0007397','Axillary apocrine gland hypoplasia','Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.'),('HP:0007398','Asymmetric, linear skin defects',''),('HP:0007400','Irregular hyperpigmentation',''),('HP:0007401','Macular atrophy','Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.'),('HP:0007402','Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines',''),('HP:0007403','Hypertrophy of skin of soles',''),('HP:0007404','Nonepidermolytic palmoplantar keratoderma',''),('HP:0007406','Hyperpigmentation of eyelids',''),('HP:0007407','Excessive skin wrinkling on dorsum of hands and fingers',''),('HP:0007408','Tegumentary leishmaniasis susceptibility','Increased susceptibility to infection by the protozan parasite of the genus Leishmania.'),('HP:0007409','obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs',''),('HP:0007410','Palmoplantar hyperhidrosis','An abnormally increased perspiration on palms and soles.'),('HP:0007411','Hypoplastic-absent sebaceous glands',''),('HP:0007412','Macular hyperpigmented dermopathy',''),('HP:0007413','Nevus flammeus of the forehead','Naevus flammeus localised in the skin of the forehead.'),('HP:0007414','Neonatal wrinkled skin of hands and feet',''),('HP:0007417','Discoid lupus rash','Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.'),('HP:0007418','Alopecia totalis','Loss of all scalp hair.'),('HP:0007420','Spontaneous hematomas','Spontaneous development of hematomas (hematoma) or bruises without significant trauma.'),('HP:0007421','Telangiectases of the cheeks','Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.'),('HP:0007425','Hyperextensible skin of face',''),('HP:0007427','Reticulated skin pigmentation',''),('HP:0007428','Telangiectasia of the oral mucosa','Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.'),('HP:0007429','Few cafe-au-lait spots','The presence of two to five cafe-au-lait macules.'),('HP:0007430','Generalized edema','Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.'),('HP:0007431','Congenital ichthyosiform erythroderma','An ichthyosiform abnormality of the skin with congenital onset.'),('HP:0007432','Intermittent generalized erythematous papular rash',''),('HP:0007434','Plaque-like facial hemangioma','Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.'),('HP:0007435','Diffuse palmoplantar keratoderma',''),('HP:0007436','Hair-nail ectodermal dysplasia',''),('HP:0007437','Multiple cutaneous leiomyomas','The presence of multiple leiomyomas of the skin.'),('HP:0007438','Mottled pigmentation of the trunk and proximal extremities',''),('HP:0007439','Generalized keratosis follicularis',''),('HP:0007440','Generalized hyperpigmentation',''),('HP:0007441','Hyperpigmented/hypopigmented macules',''),('HP:0007443','Partial albinism','Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.'),('HP:0007446','Palmoplantar blistering','A type of blistering that affects the skin of the palms of the hands and the soles of the feet.'),('HP:0007447','Diffuse palmoplantar hyperkeratosis',''),('HP:0007448','Hyperkeratosis over edematous areas',''),('HP:0007449','Confetti-like hypopigmented macules',''),('HP:0007450','Increased groin pigmentation with raindrop depigmentation',''),('HP:0007451','Ipsilateral lack of facial sweating',''),('HP:0007452','Midface capillary hemangioma',''),('HP:0007453','Flexural lichenification','Lichenification affecting primarily flexural areas of the skin.'),('HP:0007455','Adermatoglyphia',''),('HP:0007456','Progressive reticulate hyperpigmentation',''),('HP:0007457','Prominent veins on trunk','Prominent thoracic and abdominal veins.'),('HP:0007458','Focal hyperextensible skin',''),('HP:0007459','Generalized anhidrosis',''),('HP:0007460','Autoamputation of digits',''),('HP:0007461','Hemangiomatosis',''),('HP:0007462','Bitot spots of the conjunctiva','Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.'),('HP:0007464','Sparse facial hair','Reduced number or density of facial hair.'),('HP:0007465','Honeycomb palmoplantar keratoderma',''),('HP:0007466','Midfrontal capillary hemangioma',''),('HP:0007468','Perifollicular hyperkeratosis','Increased amount of keratin (visible as white scales) surrounding hair follicles.'),('HP:0007469','Palmoplantar cutis gyrata','Cutis gyrata of palms and soles.'),('HP:0007470','Periarticular subcutaneous nodules','Subcutaneous nodules that are located in the vicinity of joints.'),('HP:0007471','Axillary and groin hyperpigmentation and hypopigmentation',''),('HP:0007473','Crusting erythematous dermatitis',''),('HP:0007475','Congenital bullous ichthyosiform erythroderma','An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.'),('HP:0007476','Anhidrotic ectodermal dysplasia',''),('HP:0007477','Abnormal dermatoglyphics','An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.'),('HP:0007479','Congenital nonbullous ichthyosiform erythroderma','The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.'),('HP:0007480','Decreased sweating due to autonomic dysfunction',''),('HP:0007481','Hyperpigmented nevi',''),('HP:0007482','Generalized papillary lesions',''),('HP:0007483','Depigmentation/hyperpigmentation of skin',''),('HP:0007485','Absence of subcutaneous fat','Lack of subcutaneous adipose tissue.'),('HP:0007486','Cavernous hemangioma of the face',''),('HP:0007488','Diffuse skin atrophy',''),('HP:0007489','Diffuse telangiectasia','Telangiectases (small dilated blood vessels) with a diffuse localization.'),('HP:0007490','Linear arrays of macular hyperkeratoses in flexural areas',''),('HP:0007494','Discrete 2 to 5-mm hyper- and hypopigmented macules',''),('HP:0007495','Prematurely aged appearance',''),('HP:0007497','Focal friction-related palmoplantar hyperkeratosis','Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.'),('HP:0007499','Recurrent staphylococcal infections','Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.'),('HP:0007500','Decreased number of sweat glands','The presence of fewer than normal sweat glands.'),('HP:0007501','Streaks of hyperkeratosis along each finger onto the palm',''),('HP:0007502','Follicular hyperkeratosis','A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.'),('HP:0007503','Generalized ichthyosis',''),('HP:0007504','Diffuse slow skin atrophy',''),('HP:0007505','Progressive hyperpigmentation',''),('HP:0007506','Congenital absence of skin of limbs',''),('HP:0007508','Punctate palmar hyperkeratosis','Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.'),('HP:0007509','Patchy hypo- and hyperpigmentation',''),('HP:0007510','Focal dermal aplasia/hypoplasia',''),('HP:0007511','Mottled pigmentation of photoexposed areas',''),('HP:0007513','Generalized hypopigmentation',''),('HP:0007514','Edema of the dorsum of hands','An abnormal accumulation of fluid beneath the skin on the back of the hands.'),('HP:0007515','Hypoplastic pilosebaceous units',''),('HP:0007516','Redundant skin on fingers','Loose and sagging skin of the fingers.'),('HP:0007517','Palmoplantar cutis laxa','Loose, wrinkled skin of hands and feet.'),('HP:0007519','obsolete Lack of subcutaneous fatty tissue',''),('HP:0007521','Irregular hyperpigmentation of back',''),('HP:0007522','Increased number of skin folds',''),('HP:0007524','Atypical neurofibromatosis',''),('HP:0007525','Yellow subcutaneous tissue covered by thin, scaly skin',''),('HP:0007526','Hypopigmented skin patches on arms',''),('HP:0007529','Hidrotic ectodermal dysplasia',''),('HP:0007530','Punctate palmoplantar hyperkeratosis',''),('HP:0007534','Congenital posterior occipital alopecia','Loss of hair in the occipital region of the scalp with congenital onset.'),('HP:0007535','Hypopigmented streaks',''),('HP:0007536','Aplasia cutis congenita of midline scalp vertex',''),('HP:0007537','Severe photosensitivity','A severe degree of photosensitivity of the skin.'),('HP:0007541','Frontal cutaneous lipoma','Presence of a cutaneous lipoma on the forehead.'),('HP:0007542','Absent pigmentation of the ventral chest','Lack of skin pigmentation (coloring) of the anterior chest.'),('HP:0007543','Epidermal hyperkeratosis',''),('HP:0007544','Piebaldism','Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.'),('HP:0007545','Congenital palmoplantar keratosis',''),('HP:0007546','Linear hyperpigmentation',''),('HP:0007548','Palmoplantar keratosis with erythema and scale',''),('HP:0007549','Desquamation of skin soon after birth',''),('HP:0007550','Hypohidrosis or hyperhidrosis',''),('HP:0007552','Abnormal subcutaneous fat tissue distribution',''),('HP:0007553','Congenital symmetrical palmoplantar keratosis',''),('HP:0007554','Confetti hypopigmentation pattern of lower leg skin',''),('HP:0007556','Plantar hyperkeratosis','Hyperkeratosis affecting the sole of the foot.'),('HP:0007559','Localized epidermolytic hyperkeratosis',''),('HP:0007560','Unusual dermatoglyphics',''),('HP:0007561','Telangiectases in sun-exposed and nonexposed skin',''),('HP:0007565','Multiple cafe-au-lait spots','The presence of six or more cafe-au-lait spots.'),('HP:0007566','Index finger dermatoglyphic radial loop',''),('HP:0007569','Generalized seborrheic dermatitis','Seborrheic dermatitis that is not localized to any one particular region.'),('HP:0007570','Hyperkeratosis lenticularis perstans','Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.'),('HP:0007572','Hyperpigmented streaks',''),('HP:0007573','Late onset atopic dermatitis','A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.'),('HP:0007574','Generalized bronze hyperpigmentation',''),('HP:0007576','Palmar neurofibromas',''),('HP:0007581','Mediosternal, longitudinal streak of hypopigmentation',''),('HP:0007583','Telangiectasia macularis eruptiva perstans',''),('HP:0007585','Skin fragility with non-scarring blistering',''),('HP:0007586','Telangiectases producing `marbled` skin',''),('HP:0007587','Numerous pigmented freckles',''),('HP:0007588','Reticular hyperpigmentation','Increased pigmentation of the skin with a netlike (reticular) pattern.'),('HP:0007589','Aplasia cutis congenita on trunk or limbs','A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.'),('HP:0007590','Aplasia cutis congenita over posterior parietal area',''),('HP:0007592','Aplasia/Hypoplastia of the eccrine sweat glands','Absence or developmental hypoplasia of the eccrine sweat glands.'),('HP:0007595','Redundant skin in infancy',''),('HP:0007596','Painful subcutaneous lipomas','The presence of multiple subcutaneous lipoma that cause pain.'),('HP:0007597','Congenital palmoplantar keratodermia',''),('HP:0007598','Bilateral single transverse palmar creases','The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.'),('HP:0007599','Generalized reticulate brown pigmentation',''),('HP:0007601','Midline facial capillary hemangioma',''),('HP:0007602','Complex palmar dermatoglyphic pattern',''),('HP:0007603','Freckles in sun-exposed areas',''),('HP:0007605','Excessive wrinkling of palmar skin',''),('HP:0007606','Multiple cutaneous malignancies',''),('HP:0007607','Hypohidrotic ectodermal dysplasia',''),('HP:0007608','Abnormal palmar dermal ridges',''),('HP:0007609','Hypoproteinemic edema','An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).'),('HP:0007610','Blotching pigmentation of the skin',''),('HP:0007613','Spinous keratoses of palms and soles',''),('HP:0007616','Nevus flammeus nuchae','Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.'),('HP:0007617','Fine, reticulate skin pigmentation',''),('HP:0007618','Subcutaneous calcification','Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).'),('HP:0007620','Cutaneous leiomyoma','The presence of leiomyoma of the skin.'),('HP:0007621','Telangiectasia of extensor surfaces',''),('HP:0007623','Pigmentation anomalies of sun-exposed skin',''),('HP:0007626','Mandibular osteomyelitis','Osteomyelitis of the lower jaw.'),('HP:0007627','Mandibular condyle aplasia',''),('HP:0007628','Mandibular condyle hypoplasia',''),('HP:0007633','Bilateral microphthalmos','A developmental anomaly characterized by abnormal smallness of both eyes.'),('HP:0007634','Nonarteritic anterior ischemic optic neuropathy','An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.'),('HP:0007641','Dyschromatopsia','A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.'),('HP:0007642','Congenital stationary night blindness','A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.'),('HP:0007643','Peripheral tractional retinal detachment','Tractional retinal detachment at the periphery of the retina.'),('HP:0007646','Absent lower eyelashes','Lack of eyelashes on the lower lid.'),('HP:0007647','Congenital extraocular muscle anomaly','Congenital abnormality of the extraocular muscles.'),('HP:0007648','Punctate cataract','A type of cataract with punctate opacities of the lens.'),('HP:0007649','Congenital hypertrophy of retinal pigment epithelium','Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.'),('HP:0007650','Progressive ophthalmoplegia',''),('HP:0007651','Ectropion of lower eyelids',''),('HP:0007654','obsolete Retinal striation',''),('HP:0007655','Eversion of lateral third of lower eyelids',''),('HP:0007656','Lacrimal gland aplasia','A congenital defect of development characterized by absence of the lacrimal gland.'),('HP:0007657','Diffuse nuclear cataract','Opacity of the entire lens nucleus.'),('HP:0007658','Large hyperpigmented retinal spots',''),('HP:0007659','obsolete Decreased retinal pigmentation with dispersion',''),('HP:0007661','Abnormality of chorioretinal pigmentation',''),('HP:0007663','Reduced visual acuity',''),('HP:0007665','Curly eyelashes','Abnormally curly or curved eyelashes.'),('HP:0007667','Peripheral cystoid retinal degeneration','Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.'),('HP:0007668','Impaired pursuit initiation and maintenance',''),('HP:0007670','Abnormal vestibulo-ocular reflex','An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.'),('HP:0007675','Progressive night blindness',''),('HP:0007676','Hypoplasia of the iris','Congenital underdevelopment of the iris.'),('HP:0007677','Vitelliform-like macular lesions','Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.'),('HP:0007678','Lacrimal duct stenosis','Narrowing of a tear duct (lacrimal duct).'),('HP:0007680','Depigmented fundus',''),('HP:0007685','Peripheral retinal avascularization',''),('HP:0007686','Abnormal pupillary function','A functional abnormality of the pupil.'),('HP:0007687','Unilateral ptosis','A unilateral form of ptosis.'),('HP:0007688','Undetectable light- and dark-adapted electroretinogram','Absence of the combined rod-and-cone response on electroretinogram.'),('HP:0007690','Map-dot-fingerprint corneal dystrophy',''),('HP:0007691','obsolete Short curly eyelashes',''),('HP:0007692','obsolete Nonnuclear polymorphic congenital cataract',''),('HP:0007695','Abnormal pupillary light reflex','An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.'),('HP:0007697','Hypoplasia of the lower eyelids','Underdevelopment of the lower eyelid.'),('HP:0007698','obsolete Retinal pigment epithelial atrophy',''),('HP:0007700','Ocular anterior segment dysgenesis','Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.'),('HP:0007702','obsolete Pigmentary retinal deposits',''),('HP:0007703','Abnormality of retinal pigmentation',''),('HP:0007704','Paroxysmal involuntary eye movements','Sudden-onset episode of abnormal, involuntary eye movements.'),('HP:0007705','Corneal degeneration',''),('HP:0007707','Congenital aphakia','Absence of the crystalline lens of the eye as a result of a developmental defect.'),('HP:0007708','Absent inner eyelashes',''),('HP:0007709','Band-shaped corneal dystrophy',''),('HP:0007710','Peripheral vitreous opacities',''),('HP:0007712','obsolete Choroidal dystrophy',''),('HP:0007713','obsolete Juvenile zonular cataracts',''),('HP:0007715','Weak extraocular muscles',''),('HP:0007716','Uveal melanoma','A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).'),('HP:0007717','Chronic irritative conjunctivitis','A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.'),('HP:0007720','Flat cornea','Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.'),('HP:0007721','Saccular conjunctival dilatations','Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.'),('HP:0007722','Retinal pigment epithelial atrophy','Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.'),('HP:0007727','Opacification of the corneal epithelium','Lack of transparency of the corneal epithelium.'),('HP:0007728','Congenital miosis','Abnormal (non-physiological) constriction of the pupil of congenital onset.'),('HP:0007730','Iris hypopigmentation','An abnormal reduction in the amount of pigmentation of the iris.'),('HP:0007731','Chorioretinal dysplasia','Abnormal development of the choroid and retina.'),('HP:0007732','Lacrimal gland hypoplasia','Underdevelopment of the lacrimal gland.'),('HP:0007733','Laterally curved eyebrow',''),('HP:0007734','Enlarged lacrimal glands','Abnormally big lacrimal glands.'),('HP:0007736','obsolete Pericentral retinal dystrophy',''),('HP:0007737','Bone spicule pigmentation of the retina','Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).'),('HP:0007738','Uncontrolled eye movements',''),('HP:0007739','obsolete Mildly reduced visual acuity',''),('HP:0007740','Long eyelashes in irregular rows',''),('HP:0007744','obsolete Iridoretinal coloboma',''),('HP:0007747','Monocular horizontal nystagmus',''),('HP:0007748','obsolete Irido-fundal coloboma',''),('HP:0007750','Hypoplasia of the fovea','Underdevelopment of the fovea centralis.'),('HP:0007754','Macular dystrophy','Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.'),('HP:0007755','Juvenile epithelial corneal dystrophy',''),('HP:0007756','obsolete Slitlike anterior chamber angles in children',''),('HP:0007757','obsolete Hypoplasia of choroid',''),('HP:0007758','obsolete Congenital visual impairment',''),('HP:0007759','Opacification of the corneal stroma','Reduced transparency of the stroma of cornea.'),('HP:0007760','Crystalline corneal dystrophy',''),('HP:0007761','Pericentral scotoma','A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.'),('HP:0007763','Retinal telangiectasia','Dilatation of small blood vessels of the retina.'),('HP:0007765','Deep anterior chamber','Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.'),('HP:0007766','Optic disc hypoplasia','Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.'),('HP:0007768','Central retinal vessel vascular tortuosity','The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).'),('HP:0007769','Peripheral retinal degeneration',''),('HP:0007770','Hypoplasia of the retina',''),('HP:0007772','Impaired smooth pursuit','An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.'),('HP:0007773','Vitreoretinopathy','Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.'),('HP:0007774','Hypoplasia of the ciliary body','Underdevelopment of the ciliary body.'),('HP:0007776','Sparse lower eyelashes',''),('HP:0007777','Chorioretinal scar','Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.'),('HP:0007778','Posterior retinal neovascularization','A type of retinal neovascularization that affects the posterior pole of the retina.'),('HP:0007779','Anterior segment of eye aplasia',''),('HP:0007780','Cortical pulverulent cataract','A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.'),('HP:0007782','obsolete Peripheral retinal cone degeneration',''),('HP:0007783','obsolete Butterfly retinal pigment epithelial dystrophy',''),('HP:0007786','obsolete Lacunar retinal depigmentation',''),('HP:0007787','Posterior subcapsular cataract','A type of cataract affecting the posterior pole of lens immediately adjacent to (`beneath`) the Lens capsule.'),('HP:0007791','Patchy atrophy of the retinal pigment epithelium','Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.'),('HP:0007792','Microsaccadic pursuit',''),('HP:0007793','Granular macular appearance','Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.'),('HP:0007795','Anterior cortical cataract','A cataract that affects the anterior part of the cortex of the lens.'),('HP:0007797','Retinal vascular malformation',''),('HP:0007798','obsolete Foveal dystrophy',''),('HP:0007799','Conjunctival whitish salt-like deposits','The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.'),('HP:0007800','Increased axial length of the globe','Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.'),('HP:0007801','obsolete Fishnet retinal pigmentation',''),('HP:0007802','Granular corneal dystrophy','The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman`s layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.'),('HP:0007803','Monochromacy','Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.'),('HP:0007807','Optic nerve compression',''),('HP:0007808','obsolete Bilateral retinal coloboma',''),('HP:0007809','Punctate corneal dystrophy',''),('HP:0007810','obsolete Progressive bifocal chorioretinal atrophy',''),('HP:0007811','Horizontal pendular nystagmus','Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.'),('HP:0007812','Herpetiform corneal ulceration','The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.'),('HP:0007813','Nongranulomatous uveitis','A form of uveitis that is not associated with the formation of granulomas.'),('HP:0007814','Retinal pigment epithelial mottling','Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.'),('HP:0007815','Abnormal distribution of retinal arterioles and venules',''),('HP:0007817','Horizontal supranuclear gaze palsy','A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.'),('HP:0007818','Central heterochromia','The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.'),('HP:0007819','Presenile cataracts','Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.'),('HP:0007820','Lacrimal punctal atresia','Congenital absence or closure of the opening of the lacrimal punctum.'),('HP:0007822','Central retinal exudate',''),('HP:0007824','Total ophthalmoplegia','Paralysis of both the extrinsic and intrinsic ocular muscles.'),('HP:0007825','obsolete Cataracts develop in second or third decade',''),('HP:0007827','Nodular corneal dystrophy',''),('HP:0007829','obsolete Diffuse retinal cone degeneration',''),('HP:0007830','Adult-onset night blindness','Inability to see well at night or in poor light with onset in adulthood.'),('HP:0007831','Nonprogressive restrictive external ophthalmoplegia','Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.'),('HP:0007832','Pigmentation of the sclera',''),('HP:0007833','Anterior chamber synechiae',''),('HP:0007834','Progressive cataract','A kind of cataract that progresses with age.'),('HP:0007835','S-shaped palpebral fissures',''),('HP:0007836','Mosaic corneal dystrophy',''),('HP:0007838','Progressive ptosis','A progressive form of ptosis.'),('HP:0007840','Long upper eyelashes','Increased length of the upper eyelashes.'),('HP:0007841','Amyloid deposition in the vitreous humor','Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.'),('HP:0007843','Attenuation of retinal blood vessels',''),('HP:0007850','Retinal vascular proliferation',''),('HP:0007851','obsolete Temporal displacement of maculae',''),('HP:0007852','obsolete Pericentral pigmentary retinopathy',''),('HP:0007854','Glaucomatous visual field defect',''),('HP:0007856','Punctate opacification of the cornea','Punctate opacification (reduced transparency) of the corneal stroma.'),('HP:0007858','Chorioretinal lacunae','Punched out lesions in the pigmented layer of the retina.'),('HP:0007859','Congenital horizontal nystagmus','Horizontal nystagmus dating from or present at birth.'),('HP:0007862','Retinal calcification','Deposition of calcium salts in the retina.'),('HP:0007866','Retinal infarction',''),('HP:0007867','Restrictive partial external ophthalmoplegia','Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.'),('HP:0007868','obsolete Age-related macular degeneration',''),('HP:0007869','obsolete Peripheral retinopathy',''),('HP:0007872','Choroidal hemangioma','The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.'),('HP:0007873','Abnormally prominent line of Schwalbe',''),('HP:0007874','Almond-shaped palpebral fissure','A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.'),('HP:0007875','Congenital blindness','Blindness with onset at birth.'),('HP:0007876','obsolete Juvenile cortical cataract',''),('HP:0007879','Allergic conjunctivitis','Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.'),('HP:0007880','Marginal corneal dystrophy',''),('HP:0007881','Central corneal dystrophy',''),('HP:0007885','Slowed horizontal saccades','An abnormally slow velocity of horizontal saccadic eye movements.'),('HP:0007886','Absent extraocular muscles','Congenital absence of the extraocular muscles.'),('HP:0007889','Iridescent posterior subcapsular cataract','A type of posterior subcapsular cataract characterized by an iridescent color.'),('HP:0007892','Hypoplasia of the lacrimal punctum','Underdevelopment of the lacrimal puncta.'),('HP:0007893','obsolete Progressive retinal degeneration',''),('HP:0007894','Hypopigmentation of the fundus','Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).'),('HP:0007898','Exudative retinopathy',''),('HP:0007899','Retinal nonattachment','Failure of attachment of the retina during development.'),('HP:0007900','Hypoplastic lacrimal duct',''),('HP:0007901','obsolete Retinal malformation',''),('HP:0007902','Vitreous hemorrhage','Bleeding within the vitreous compartment of the eye.'),('HP:0007903','Paravenous chorioretinal atrophy','Chorioretinal atrophy along the retinal veins.'),('HP:0007905','Abnormal iris vasculature',''),('HP:0007906','Ocular hypertension','Intraocular pressure that is 2 standard deviations above the population mean.'),('HP:0007910','obsolete Nonprogressive congenital retinal dystrophy',''),('HP:0007911','Congenital bilateral ptosis',''),('HP:0007913','Reticular retinal dystrophy','A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.'),('HP:0007915','Polymorphous posterior corneal dystrophy','This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.'),('HP:0007916','obsolete Small anterior lens surface opacities',''),('HP:0007917','Tractional retinal detachment','A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.'),('HP:0007920','obsolete Congenital chorioretinal dystrophy',''),('HP:0007922','Hypermyelinated retinal nerve fibers',''),('HP:0007923','obsolete Foveal hyperplasia',''),('HP:0007924','Slow decrease in visual acuity',''),('HP:0007925','Lacrimal duct aplasia','A congenital defect resulting in absence of the lacrimal duct.'),('HP:0007928','Abnormal flash visual evoked potentials','Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.'),('HP:0007929','Peripheral retinal detachment','Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.'),('HP:0007930','obsolete Prominent epicanthal folds',''),('HP:0007932','Bilateral congenital mydriasis','Congenital abnormal dilation of the pupil on both sides.'),('HP:0007933','Broad lateral eyebrow','Regional increase in the width (height) of the lateral eyebrow.'),('HP:0007935','Juvenile posterior subcapsular lenticular opacities',''),('HP:0007936','Restrictive external ophthalmoplegia','Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.'),('HP:0007937','Reticular pigmentary degeneration','A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.'),('HP:0007939','Blue cone monochromacy','A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.'),('HP:0007941','Limited extraocular movements',''),('HP:0007942','Internal ophthalmoplegia','Paralysis of the iris and ciliary apparatus.'),('HP:0007943','Congenital stapes ankylosis','A form of stapes ankylosis with congenital onset.'),('HP:0007944','Intermittent microsaccadic pursuits',''),('HP:0007945','obsolete Choroidal degeneration',''),('HP:0007946','Unilateral narrow palpebral fissure','A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.'),('HP:0007947','Pericentral retinitis pigmentosa','A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.'),('HP:0007948','Dense posterior cortical cataract','A type of posterior cortical cataract characterized by dense lenticular opacities.'),('HP:0007949','obsolete Progressive macular scarring',''),('HP:0007950','Peripapillary chorioretinal atrophy','Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).'),('HP:0007956','obsolete Bilateral choroid coloboma',''),('HP:0007957','Corneal opacity','A reduction of corneal clarity.'),('HP:0007958','Optic atrophy from cranial nerve compression',''),('HP:0007961','obsolete Rarefaction of retinal pigmentation',''),('HP:0007962','Speckled corneal dystrophy',''),('HP:0007963','Pattern dystrophy of the retina','A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).'),('HP:0007964','Degenerative vitreoretinopathy',''),('HP:0007965','Undetectable visual evoked potentials',''),('HP:0007968','Remnants of the hyaloid vascular system','Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.'),('HP:0007970','Congenital ptosis',''),('HP:0007971','Lamellar cataract','A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.'),('HP:0007973','Retinal dysplasia','The presence of developmental dysplasia of the retina.'),('HP:0007975','Hypometric horizontal saccades','Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.'),('HP:0007976','Cerulean cataract','Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.'),('HP:0007979','Gaze-evoked horizontal nystagmus','Horizontal nystagmus made apparent by looking to the right or to the left.'),('HP:0007980','Absent retinal pigment epithelium',''),('HP:0007981','obsolete Concentric narrowing of visual field',''),('HP:0007982','obsolete Central tapetoretinal dystrophy',''),('HP:0007984','Electronegative electroretinogram','A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).'),('HP:0007985','Retinal arteriolar occlusion','Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.'),('HP:0007986','Increased retinal vascularity',''),('HP:0007987','Progressive visual field defects',''),('HP:0007988','Macular hypopigmentation','Decreased amount of pigmentation in the macula lutea.'),('HP:0007989','Intraretinal exudate','Retinal exudate within the retinal tissue itself.'),('HP:0007990','Hypoplastic iris stroma','Underdevelopment of the stroma of iris.'),('HP:0007992','Lattice retinal degeneration',''),('HP:0007993','Malformed lacrimal duct','Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.'),('HP:0007994','Peripheral visual field loss','Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.'),('HP:0008000','Decreased corneal reflex','An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.'),('HP:0008001','Foveal hyperpigmentation','Increased amount of pigmentation in the fovea centralis.'),('HP:0008002','Abnormality of macular pigmentation','Abnormality of macular or foveal pigmentation.'),('HP:0008003','Jerky ocular pursuit movements',''),('HP:0008005','Congenital corneal dystrophy',''),('HP:0008007','Primary congenital glaucoma',''),('HP:0008008','obsolete Progressive central visual loss',''),('HP:0008009','Three rows of eyelashes',''),('HP:0008011','Peripheral opacification of the cornea','Reduced transparency of the peripheral region of the cornea.'),('HP:0008012','obsolete Congenital myopia',''),('HP:0008014','Central fundal arteriolar microaneurysms','Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.'),('HP:0008017','obsolete Depigmented lesions of the retinal pigment epithelium',''),('HP:0008019','Superior lens subluxation','Partial dislocation of the lens in a superior direction.'),('HP:0008020','Cone dystrophy','Inherited progressive cone degeneration.'),('HP:0008024','obsolete Congenital nuclear cataract',''),('HP:0008026','Horizontal opticokinetic nystagmus',''),('HP:0008028','Cystoid macular degeneration','A form of macular degeneration characterized by the presence of multiple cysts in the macula.'),('HP:0008030','Retinal arteritis',''),('HP:0008031','Posterior Y-sutural cataract','A type of sutural cataract in which the opacity follows the posterior Y suture.'),('HP:0008033','obsolete Congenital exotropia',''),('HP:0008034','Abnormal iris pigmentation','Abnormal pigmentation of the iris.'),('HP:0008035','Retinitis pigmentosa inversa','Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).'),('HP:0008036','obsolete Rod-cone dystrophy',''),('HP:0008037','Absent anterior chamber of the eye','Absence of the anterior chamber of the eye owing to a developmental defect.'),('HP:0008038','Aplastic/hypoplastic lacrimal glands','Absence or underdevelopment of the lacrimal gland.'),('HP:0008039','Subepithelial corneal opacities',''),('HP:0008041','Late onset congenital glaucoma',''),('HP:0008043','Retinal arteriolar constriction','Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.'),('HP:0008045','Enlarged flash visual evoked potentials',''),('HP:0008046','Abnormal retinal vascular morphology','A structural abnormality of retinal vasculature.'),('HP:0008047','Abnormality of the vasculature of the eye',''),('HP:0008048','Abnormality of the line of Schwalbe','An abnormality of the line of Schwalbe.'),('HP:0008049','Abnormality of the extraocular muscles','An abnormality of an extraocular muscle.'),('HP:0008050','Abnormality of the palpebral fissures','An anomaly of the space between the medial and lateral canthi of the two open eyelids.'),('HP:0008051','obsolete Abnormality of the retinal pigment epithelium',''),('HP:0008052','Retinal fold','A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.'),('HP:0008053','Aplasia/Hypoplasia of the iris','Absence or underdevelopment of the iris.'),('HP:0008054','Abnormal morphology of the conjunctival vasculature','Any abnormality of the blood vessels of the conjunctiva.'),('HP:0008055','Aplasia/Hypoplasia affecting the uvea','Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.'),('HP:0008056','Aplasia/Hypoplasia affecting the eye',''),('HP:0008057','Aplasia/Hypoplasia affecting the fundus',''),('HP:0008058','Aplasia/Hypoplasia of the optic nerve',''),('HP:0008059','Aplasia/Hypoplasia of the macula',''),('HP:0008060','Aplasia/Hypoplasia of the fovea','Congenital absence or underdevelopment of the fovea centralis.'),('HP:0008061','Aplasia/Hypoplasia of the retina',''),('HP:0008062','Aplasia/Hypoplasia affecting the anterior segment of the eye','Absence or underdevelopment of the anterior segment of the eye.'),('HP:0008063','Aplasia/Hypoplasia of the lens','Absence or underdevelopment of the lens.'),('HP:0008064','Ichthyosis','An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.'),('HP:0008065','Aplasia/Hypoplasia of the skin',''),('HP:0008066','Abnormal blistering of the skin','The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.'),('HP:0008067','Abnormally lax or hyperextensible skin',''),('HP:0008069','Neoplasm of the skin','A tumor (abnormal growth of tissue) of the skin.'),('HP:0008070','Sparse hair','Reduced density of hairs.'),('HP:0008071','Maternal hypertension','Increased blood pressure during a pregnancy.'),('HP:0008072','Maternal virilization in pregnancy','Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.'),('HP:0008073','Low maternal serum estriol','An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age.'),('HP:0008074','Metatarsal periosteal thickening',''),('HP:0008075','Progressive pes cavus','The development of Pes cavus that is progressive with age.'),('HP:0008076','Osteoporotic tarsals','Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008078','Thin metatarsal cortices',''),('HP:0008079','Absent fifth metatarsal','A developmental abnormality characterized by the absence of the fifth metatarsal bone.'),('HP:0008080','Hallux varus','Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.'),('HP:0008081','Pes valgus','An outward deviation of the foot at the talocalcaneal or subtalar joint.'),('HP:0008082','Medial deviation of the foot',''),('HP:0008083','2nd-5th toe middle phalangeal hypoplasia',''),('HP:0008087','Nonossified fifth metatarsal','The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.'),('HP:0008089','Abnormality of the fifth metatarsal bone','An anomaly of the fifth metatarsal bone.'),('HP:0008090','Ankylosis of feet small joints',''),('HP:0008093','Short 4th toe','Underdevelopment (hypoplasia) of the fourth toe.'),('HP:0008094','Widely spaced toes','An overall widening of the spaces between the digits.'),('HP:0008095','Osteolysis of talus','Osteolysis affecting the talus.'),('HP:0008096','Medially deviated second toe','Medial deviation of the second toe.'),('HP:0008097','Partial fusion of tarsals',''),('HP:0008102','Expanded metatarsals with widened medullary cavities',''),('HP:0008103','Delayed tarsal ossification','Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008107','Plantar crease between first and second toes','The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.'),('HP:0008108','Advanced tarsal ossification','Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008110','Equinovarus deformity',''),('HP:0008111','Broad distal hallux',''),('HP:0008112','Plantar flexion contractures',''),('HP:0008113','Multiple plantar creases',''),('HP:0008114','Metatarsal diaphyseal endosteal sclerosis','Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.'),('HP:0008115','Clinodactyly of the 3rd toe','Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).'),('HP:0008116','Flexion limitation of toes','Limitation of the ability to bend the toes.'),('HP:0008117','Shortening of the talar neck',''),('HP:0008119','Deformed tarsal bones',''),('HP:0008122','Calcaneonavicular fusion','Synostosis of the calcaneus with the navicular bone.'),('HP:0008124','Talipes calcaneovarus','A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.'),('HP:0008125','Second metatarsal posteriorly placed',''),('HP:0008127','Bipartite calcaneus','A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.'),('HP:0008131','Tarsal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.'),('HP:0008132','Medial rotation of the medial malleolus',''),('HP:0008133','Distal tapering of metatarsals',''),('HP:0008134','Irregular tarsal ossification','Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008138','Equinus calcaneus','Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.'),('HP:0008141','Dislocation of toes',''),('HP:0008142','Delayed calcaneal ossification','Delayed maturation and calcification of the calcaneus.'),('HP:0008144','Flattening of the talar dome',''),('HP:0008148','Impaired epinephrine-induced platelet aggregation','Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.'),('HP:0008150','Elevated serum transaminases during infections','Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.'),('HP:0008151','Prolonged prothrombin time','Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient`s prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.'),('HP:0008153','Periodic hypokalemic paresis','Episodes of muscle weakness associated with reduced levels of potassium in the blood.'),('HP:0008155','Mucopolysacchariduria','Excessive amounts of mucopolysaccharide in the urine.'),('HP:0008158','Hyperapobetalipoproteinemia','Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.'),('HP:0008160','3-hydroxydicarboxylic aciduria','An increase in the level of 3-hydroxydicarboxylic acid in the urine.'),('HP:0008161','Absent leukocyte alkaline phosphatase','Alkaline phosphatase levels measured within leukocytes is below detectable levels.'),('HP:0008162','Asymptomatic hyperammonemia','An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.'),('HP:0008163','Decreased circulating cortisol level','Abnormally reduced concentration of cortisol in the blood.'),('HP:0008165','Decreased helper T cell proportion','Reduced proportion of helper T cells relative to the total number of T cells.'),('HP:0008166','Decreased beta-galactosidase activity','Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.'),('HP:0008167','Very long chain fatty acid accumulation',''),('HP:0008169','Reduced factor VII activity','Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.'),('HP:0008176','Neonatal unconjugated hyperbilirubinemia',''),('HP:0008178','Abnormal cartilage matrix',''),('HP:0008179','Decreased Arden ratio of electrooculogram','An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.'),('HP:0008180','Mildly elevated creatine kinase',''),('HP:0008181','Abetalipoproteinemia','An absence of low-density lipoprotein cholesterol in the blood.'),('HP:0008182','Adrenocortical hypoplasia',''),('HP:0008185','Precocious puberty in males','The onset of puberty before the age of 9 years in boys.'),('HP:0008186','Adrenocortical cytomegaly','The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.'),('HP:0008187','Absence of secondary sex characteristics','No secondary sexual characteristics are present at puberty.'),('HP:0008188','Thyroid dysgenesis',''),('HP:0008189','Insulin insensitivity','Decreased sensitivity toward insulin.'),('HP:0008191','Thyroid agenesis','The congenital absence of the thyroid gland.'),('HP:0008193','Primary gonadal insufficiency',''),('HP:0008194','Multiple pancreatic beta-cell adenomas','The presence of multiple pancreatic islet cell adenomas.'),('HP:0008197','Absence of pubertal development',''),('HP:0008198','Congenital hypoparathyroidism','Deficiency of parathyroid hormone with congenital onset.'),('HP:0008200','Primary hyperparathyroidism','A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.'),('HP:0008202','Reduced circulating prolactin concentration','A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.'),('HP:0008204','Precocious puberty with Sertoli cell tumor',''),('HP:0008205','Insulin-dependent but ketosis-resistant diabetes','Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.'),('HP:0008207','Primary adrenal insufficiency','Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.'),('HP:0008208','Parathyroid hyperplasia','Hyperplasia of the parathyroid gland.'),('HP:0008209','Premature ovarian insufficiency','Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.'),('HP:0008211','Parathyroid agenesis','Aplasia of the parathyroid gland.'),('HP:0008213','Gonadotropin deficiency','A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).'),('HP:0008214','Decreased serum estradiol','A reduction below normal concentration of estradiol in the circulation.'),('HP:0008216','Adrenal gland dysgenesis','Abnormal development of the adrenal gland.'),('HP:0008221','Adrenal hyperplasia','Enlargement of the adrenal gland.'),('HP:0008222','Female infertility',''),('HP:0008223','Compensated hypothyroidism','Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).'),('HP:0008225','Thyroid follicular hyperplasia',''),('HP:0008226','Androgen insufficiency','Insufficient amount of androgenic activity.'),('HP:0008227','Pituitary resistance to thyroid hormone','A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.'),('HP:0008229','Thyroid lymphangiectasia','The presence of lymphangiectasis of the thyroid gland.'),('HP:0008230','obsolete Decreased testosterone in males',''),('HP:0008231','Macronodular adrenal hyperplasia',''),('HP:0008232','Elevated circulating follicle stimulating hormone level','An elevated concentration of follicle-stimulating hormone in the blood.'),('HP:0008233','Decreased circulating progesterone','An reduced concentration of progesterone in the blood.'),('HP:0008236','Isosexual precocious puberty',''),('HP:0008237','Hypothalamic hypothyroidism','A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.'),('HP:0008239','Adrenal medullary hypoplasia','Developmental hypoplasia of the adrenal medulla.'),('HP:0008240','Secondary growth hormone deficiency',''),('HP:0008242','Pseudohypoaldosteronism','A state of renal tubular unresponsiveness or resistance to the action of aldosterone.'),('HP:0008244','Congenital adrenal hypoplasia','A type of adrenal hypoplasia with congenital onset.'),('HP:0008245','Pituitary hypothyroidism','A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.'),('HP:0008247','Euthyroid hyperthyroxinemia','An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.'),('HP:0008249','Thyroid hyperplasia','Hyperplasia of the thyroid gland.'),('HP:0008250','Infantile hypercalcemia',''),('HP:0008251','Congenital goiter','An enlargement of the thyroid gland with congenital onset.'),('HP:0008255','Transient neonatal diabetes mellitus',''),('HP:0008256','Adrenocortical adenoma','Adrenocortical adenomas are benign tumors of the adrenal cortex.'),('HP:0008258','Congenital adrenal hyperplasia','A type of adrenal hyperplasia with congenital onset.'),('HP:0008259','Adrenocorticotropin receptor defect','Adrenal insufficiency secondary to a defect in the ACTH receptor.'),('HP:0008261','Pancreatic islet cell adenoma','The presence of an adenoma of the pancreas with origin in a pancreatic B cell.'),('HP:0008263','Thyroid defect in oxidation and organification of iodide',''),('HP:0008264','Neutrophil inclusion bodies','The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.'),('HP:0008265','Mitochondrial lysine transport defect',''),('HP:0008269','Increased red cell hemolysis by shear stress',''),('HP:0008271','Abnormal cartilage collagen','Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.'),('HP:0008272','Renal tubular lysine transport defect',''),('HP:0008273','Transient aminoaciduria',''),('HP:0008275','Abnormal light-adapted electroretinogram',''),('HP:0008277','Abnormal blood zinc concentration','An abnormality of zinc ion homeostasis.'),('HP:0008278','Cerebellar cortical atrophy','Atrophy (wasting) of the cerebellar cortex.'),('HP:0008279','Transient hyperlipidemia',''),('HP:0008281','Acute hyperammonemia','An increased concentration of ammonia in the blood with sudden onset.'),('HP:0008282','Unconjugated hyperbilirubinemia','An increased amount of unconjugated (indirect) bilurubin in the blood.'),('HP:0008283','Fasting hyperinsulinemia','An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.'),('HP:0008285','Transient hypophosphatemia',''),('HP:0008288','Nonketotic hyperglycinemia',''),('HP:0008290','Partial complement factor H deficiency','A partial reduction in level of the complement component Factor H in circulation.'),('HP:0008291','Pituitary corticotropic cell adenoma','A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).'),('HP:0008293','Long-chain dicarboxylic aciduria','An increase in the level of long-chain dicarboxylic acid in the urine.'),('HP:0008297','Transient hyperphenylalaninemia','A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).'),('HP:0008301','Dermatan sulfate excretion in urine','An increased concentration of dermatan sulfate in the urine.'),('HP:0008303','Olivary degeneration','Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.'),('HP:0008305','Exercise-induced myoglobinuria','Presence of myoglobin in the urine following exercise.'),('HP:0008306','Abnormal iron deposition in mitochondria',''),('HP:0008309','Medium chain dicarboxylic aciduria','An increase in the level of medium chain dicarboxylic acid in the urine.'),('HP:0008311','Spinal cord posterior columns myelin loss',''),('HP:0008314','Decreased activity of mitochondrial complex II','A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.'),('HP:0008315','Decreased plasma free carnitine','A decreased concentration of free (unbound) carnitine in the blood.'),('HP:0008316','Abnormal mitochondria in muscle tissue','An abnormality of the mitochondria in muscle tissue.'),('HP:0008318','Elevated leukocyte alkaline phosphatase','Increased alkaline phosphatase measured within leukocytes.'),('HP:0008320','Impaired collagen-induced platelet aggregation','Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.'),('HP:0008321','Reduced factor X activity','Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).'),('HP:0008322','Abnormal mitochondrial morphology','Any structural anomaly of the mitochondria.'),('HP:0008323','Abnormal light- and dark-adapted electroretinogram','An abnormality of the combined rod-and-cone response on electroretinogram.'),('HP:0008326','Reduced circulating vitamin B6 level','An abnormally decreased concentration of vitamin B6 in the blood circulation.'),('HP:0008327','Microscopic nephrocalcinosis','The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.'),('HP:0008330','Reduced von Willebrand factor activity','Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.'),('HP:0008331','Elevated creatine kinase after exercise',''),('HP:0008335','Renal aminoaciduria','An increased concentration of an amino acid in the urine, due to a decreased kidney functionality .'),('HP:0008336','Complex organic aciduria',''),('HP:0008338','Partial functional complement factor D deficiency','A partial reduction in level of the complement component Factor D in circulation.'),('HP:0008339','Diaminoaciduria',''),('HP:0008341','Distal renal tubular acidosis','A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.'),('HP:0008344','Elevated plasma branched chain amino acids','An increased concentration of a branched chain amino acid in the blood.'),('HP:0008345','Hypoplasia of the iris dilator muscle','Underdevelopment of the dilatator pupillae.'),('HP:0008346','Increased red cell sickling tendency',''),('HP:0008347','Decreased activity of mitochondrial complex IV','A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.'),('HP:0008348','Decreased circulating IgG2 level','A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.'),('HP:0008352','Impaired platelet adhesion','An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.'),('HP:0008353','Neutral hyperaminoaciduria','The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.'),('HP:0008354','Factor X activation deficiency','Reduced ability to transform factor X into its activated form factor Xa.'),('HP:0008356','obsolete Combined hyperlipidemia',''),('HP:0008357','Reduced factor XIII activity','Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.'),('HP:0008358','Hyperprolinemia','An increased concentration of proline in the blood.'),('HP:0008360','Neonatal hypoproteinemia','A neonatal decreased concentration of proteins in the blood.'),('HP:0008361','Corticospinal tract pallor',''),('HP:0008362','Aplasia/Hypoplasia of the hallux','Absence or underdevelopment of the big toe.'),('HP:0008363','Aplasia/Hypoplasia of the tarsal bones','Absence or underdevelopment of the tarsal bones.'),('HP:0008364','Abnormality of the calcaneus','An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.'),('HP:0008365','Abnormality of the talus','An abnormality of the talus.'),('HP:0008366','Contractures involving the joints of the feet',''),('HP:0008368','Tarsal synostosis','Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).'),('HP:0008369','Abnormal tarsal ossification','An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.'),('HP:0008371','Abnormal metatarsal ossification','Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.'),('HP:0008372','Abnormality of vitamin A metabolism',''),('HP:0008373','Puberty and gonadal disorders',''),('HP:0008376','Nasal, dysarthic speech',''),('HP:0008383','Slow-growing nails','Nails whose growth is slower than normal.'),('HP:0008386','Aplasia/Hypoplasia of the nails','Aplasia or developmental hypoplasia of the nail.'),('HP:0008388','Abnormal toenail morphology','An anomaly of the toenail.'),('HP:0008390','Recurrent loss of toenails and fingernails','Recurrent loss, or shedding, of the nails of the fingers and toes.'),('HP:0008391','Dystrophic fingernails','The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.'),('HP:0008392','Subungual hyperkeratosis','A thickening of the stratum corneum in the region beneath the nails.'),('HP:0008393','Congenital curved nail of fourth toe',''),('HP:0008394','Congenital onychodystrophy',''),('HP:0008396','Chronic monilial nail infection','Chronic infection of the nails by Candida species.'),('HP:0008398','Hypoplastic fifth fingernail','A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.'),('HP:0008399','Circumungual hyperkeratosis','A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.'),('HP:0008400','Onycholysis of distal fingernails','Detachment of the distal fingernails from the nail bed.'),('HP:0008401','Onychogryposis of toenails','Thickened toenails.'),('HP:0008402','Ridged fingernail','Longitudinal, linear prominences in the fingernail plate.'),('HP:0008404','Nail dystrophy','Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.'),('HP:0008407','Hyperconvex thumb nails',''),('HP:0008410','Subungual hyperkeratotic fragments',''),('HP:0008414','Lumbar kyphosis in infancy',''),('HP:0008416','Six lumbar vertebrae',''),('HP:0008417','Vertebral hypoplasia','Small, underdeveloped vertebral bodies.'),('HP:0008418','Squared-off platyspondyly',''),('HP:0008419','Intervertebral disc degeneration','The presence of degenerative changes of intervertebral disk.'),('HP:0008420','Punctate vertebral calcifications','The presence of punctiform calcification of the bone of the vertebral bodies.'),('HP:0008421','Tall lumbar vertebral bodies',''),('HP:0008422','Vertebral wedging','An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.'),('HP:0008423','Spinal dysplasia','The presence of developmental dysplasia of the vertebral column.'),('HP:0008424','Hypoplastic 5th lumbar vertebrae',''),('HP:0008425','Cuboid-shaped thoracolumbar vertebral bodies',''),('HP:0008428','Vertebral clefting','Schisis (cleft or cleavage) of vertebral bodies.'),('HP:0008430','Anterior beaking of lumbar vertebrae','Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.'),('HP:0008432','Anterior wedging of L1','An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).'),('HP:0008433','Reversed usual vertebral column curves',''),('HP:0008434','Hypoplastic cervical vertebrae',''),('HP:0008435','Absent in utero ossification of vertebral bodies',''),('HP:0008436','Absent/hypoplastic coccyx',''),('HP:0008437','Bifid thoracic vertebrae',''),('HP:0008438','Vertebral arch anomaly','A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.'),('HP:0008439','Lumbar hemivertebrae','Absence of one half of the vertebral body in the lumbar spine.'),('HP:0008440','C1-C2 vertebral abnormality','Any abnormality of the atlas and the axis.'),('HP:0008441','Herniation of intervertebral nuclei','The presence of one or more herniated nucleus pulposus of intervertebral disk.'),('HP:0008442','Vertebral hyperostosis','Excessive growth of the bones of the vertebral bodies.'),('HP:0008443','Spinal deformities',''),('HP:0008444','Posterior wedging of vertebral bodies','An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).'),('HP:0008445','Cervical spinal canal stenosis','An abnormal narrowing of the cervical spinal canal.'),('HP:0008447','Hypoplastic coccygeal vertebrae',''),('HP:0008449','Progressive cervical vertebral spine fusion',''),('HP:0008450','Narrow vertebral interpedicular distance','A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.'),('HP:0008451','Posterior vertebral hypoplasia',''),('HP:0008452','Wafer-thin platyspondyly',''),('HP:0008453','Congenital kyphoscoliosis',''),('HP:0008454','Lumbar kyphosis','Over curvature of the lumbar region.'),('HP:0008455','Dysplastic sacrum','A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.'),('HP:0008456','C2-C3 subluxation','A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.'),('HP:0008457','Caudal interpedicular narrowing','Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.'),('HP:0008458','Progressive congenital scoliosis','A progressive form of scoliosis with congenital onset.'),('HP:0008459','Cervical vertebral agenesis','Agenesis of one or more vertebrae of the cervical vertebral column.'),('HP:0008460','Hypoplastic spinal processes',''),('HP:0008461','Cervical vertebral facet hypoplasia',''),('HP:0008462','Cervical instability',''),('HP:0008463','Central vertebral hypoplasia',''),('HP:0008464','Absent spinous processes of lower thoracic and lumbar vertebrae',''),('HP:0008465','Absent vertebra','A developmental defect characterized by agenesis of one or more vertebral bodies.'),('HP:0008467','Thoracic hemivertebrae','Absence of one half of the vertebral body in the thoracic spine.'),('HP:0008468','Abnormal sacral segmentation','An abnormality related to a defect of vertebral separation of sacral vertebrae during development.'),('HP:0008469','Cervical vertebral dysplasia','Dysplasia of the cervical vertebral column.'),('HP:0008470','Lower thoracic interpediculate narrowness','A reduction of the distance between the lower thoracic vertebral pedicles.'),('HP:0008472','Prominent protruding coccyx',''),('HP:0008473','Narrow anterio-posterior vertebral body diameter','An abnormal reduction of the anterioposterior diameter of the vertebral body.'),('HP:0008475','Hypoplastic sacral vertebrae',''),('HP:0008476','Irregular sclerotic endplates',''),('HP:0008477','Poorly ossified cervical vertebrae','Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.'),('HP:0008478','Scheuermann-like vertebral changes',''),('HP:0008479','Hypoplastic vertebral bodies',''),('HP:0008480','Cervical spondylosis','The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.'),('HP:0008482','Asymmetry of spinal facet joints',''),('HP:0008483','Cervical vertebral bodies with decreased anteroposterior diameter',''),('HP:0008484','Thoracolumbar interpediculate narrowness','A reduction of the distance between thoracolumbar vertebral pedicles.'),('HP:0008486','Lumbar interpedicular narrowing','Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.'),('HP:0008488','Anterior rounding of vertebral bodies',''),('HP:0008489','Spondylolisthesis at L5-S1','Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).'),('HP:0008490','Sacral segmentation defect',''),('HP:0008491','Premature anterior fontanel closure','Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.'),('HP:0008494','Inferior lens subluxation','Partial displacement of the lens in the inferior direction.'),('HP:0008496','Multiple rows of eyelashes',''),('HP:0008497','Congenital craniofacial dysostosis',''),('HP:0008498','No permanent dentition',''),('HP:0008499','High hypermetropia','A severe form of hypermetropia with over +5.00 diopters.'),('HP:0008501','Median cleft lip and palate','Cleft lip or palate affecting the midline region of the palate.'),('HP:0008504','Moderate sensorineural hearing impairment','The presence of a moderate form of sensorineural hearing impairment.'),('HP:0008507','Static ophthalmoparesis',''),('HP:0008509','Aged leonine appearance',''),('HP:0008511','Central posterior corneal opacity','Reduced transparency of the central posterior portion of the corneal stroma.'),('HP:0008513','Bilateral conductive hearing impairment','A bilateral type of conductive hearing impairment.'),('HP:0008515','Aplasia/Hypoplasia of the vertebrae',''),('HP:0008516','Abnormality of the vertebral spinous processes',''),('HP:0008517','Aplasia/Hypoplasia of the sacrum','Aplasia or developmental hypoplasia of the sacral bone.'),('HP:0008518','Aplasia/Hypoplasia involving the vertebral column',''),('HP:0008519','Abnormality of the coccyx','An abnormality of the coccyx.'),('HP:0008523','Posterior helix pit','Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.'),('HP:0008527','Congenital sensorineural hearing impairment','A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.'),('HP:0008528','Long hairs growing from helix of pinna',''),('HP:0008529','Absence of acoustic reflex','Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.'),('HP:0008537','Cleft at the superior portion of the pinna',''),('HP:0008541','Superiorly displaced ears',''),('HP:0008542','Low-frequency hearing loss','A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).'),('HP:0008544','Abnormally folded helix',''),('HP:0008551','Microtia','Underdevelopment of the external ear.'),('HP:0008554','Cochlear malformation','The presence of a malformed cochlea.'),('HP:0008555','Absent vestibular function','Complete lack of functioning of the vestibular apparatus.'),('HP:0008559','Hypoplastic superior helix',''),('HP:0008568','Vestibular areflexia','Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.'),('HP:0008569','Microtia, second degree','Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.'),('HP:0008572','External ear malformation','A malformation of the auricle of the ear.'),('HP:0008573','Low-frequency sensorineural hearing impairment','A form of sensorineural hearing impairment that affects primarily the lower frequencies.'),('HP:0008577','Underfolded helix','Underdevelopment of the helix that either affects the entire helix, or is localized.'),('HP:0008583','Underfolded superior helices','A condition in which the superior portion of the helix is folded over to a lesser degree than normal.'),('HP:0008586','Hypoplasia of the cochlea','Developmental hypoplasia of the cochlea.'),('HP:0008587','Mild neurosensory hearing impairment','The presence of a mild form of sensorineural hearing impairment.'),('HP:0008588','Slit-like opening of the exterior auditory meatus','A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.'),('HP:0008589','Hypoplastic helices','Underdevelopment of the helix, i.e., of the outer rim of the pinna.'),('HP:0008591','Congenital conductive hearing impairment','A type of conductive deafness with congenital onset.'),('HP:0008593','Prominent antitragus','Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.'),('HP:0008596','Postlingual sensorineural hearing impairment','A form of sensorineural hearing impairment with onset after the acquisition of speech.'),('HP:0008598','Mild conductive hearing impairment','A mild form of conductive hearing impairment.'),('HP:0008605','Unilateral external ear deformity',''),('HP:0008606','Supraauricular pit','Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.'),('HP:0008607','Progressive conductive hearing impairment','A progressive type of conductive deafness.'),('HP:0008608','Hypertrophic auricular cartilage',''),('HP:0008609','Morphological abnormality of the middle ear','An abnormality of the morphology or structure of the middle ear.'),('HP:0008610','Infantile sensorineural hearing impairment','A form of sensorineural hearing impairment with infantile onset.'),('HP:0008615','Adult onset sensorineural hearing impairment','The presence of sensorineural deafness with late onset.'),('HP:0008619','Bilateral sensorineural hearing impairment','A bilateral form of sensorineural hearing impairment.'),('HP:0008625','Severe sensorineural hearing impairment','A severe form of sensorineural hearing impairment.'),('HP:0008628','Abnormality of the stapes','An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.'),('HP:0008629','Pulsatile tinnitus','Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus.'),('HP:0008631','Ureteral dysgenesis','A developmental anomaly of the ureter.'),('HP:0008633','Agonadism','Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).'),('HP:0008635','Hypertrophy of the urinary bladder','Abnormal enlargement of the urinary bladder.'),('HP:0008636','Lobular glomerulopathy',''),('HP:0008639','Gonadal hypoplasia',''),('HP:0008640','Congenital macroorchidism',''),('HP:0008643','Nephroblastomatosis','Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.'),('HP:0008647','Pubertal developmental failure in females',''),('HP:0008648','Anteriorly displaced urethral meatus',''),('HP:0008651','Uric acid urolithiasis independent of gout',''),('HP:0008652','Autonomic erectile dysfunction','Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.'),('HP:0008653','Crescentic glomerulonephritis','A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.'),('HP:0008655','Aplasia/Hypoplasia of the fallopian tube','Aplasia or developmental hypoplasia of the fallopian tube.'),('HP:0008656','Incomplete male pseudohermaphroditism',''),('HP:0008659','Multiple small medullary renal cysts','The presence of many cysts in the medulla of the kidney.'),('HP:0008660','Renotubular dysgenesis','A developmental defect characterized by absence or poor development of proximal renal tubules.'),('HP:0008661','Urethral stenosis','Abnormal narrowing of the urethra.'),('HP:0008663','Renal sarcoma','A sarcoma of the kidney.'),('HP:0008664','Urethral sphincter sclerosis',''),('HP:0008665','Clitoral hypertrophy','Hypertrophy of the clitoris.'),('HP:0008666','Impaired histidine renal tubular absorption',''),('HP:0008668','Gonadal dysgenesis, male','Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.'),('HP:0008669','Abnormal spermatogenesis','Incomplete maturation or aberrant formation of the male gametes.'),('HP:0008670','Partial vaginal septum',''),('HP:0008672','Calcium oxalate nephrolithiasis','The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.'),('HP:0008675','Enlarged polycystic ovaries',''),('HP:0008676','Congenital megaureter','A developmental disturbance with extreme ureteral dilatation.'),('HP:0008677','Congenital nephrotic syndrome','Nephrotic syndrome with onset within the first three months of life.'),('HP:0008678','Renal hypoplasia/aplasia','Absence or underdevelopment of the kidney.'),('HP:0008682','Renal tubular epithelial necrosis','Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).'),('HP:0008683','Enlarged labia minora','Increase in size of the folds of skin between the outer labia.'),('HP:0008684','Aplasia/hypoplasia of the uterus','Absence or developmental hypoplasia of the uterus.'),('HP:0008687','Hypoplasia of the prostate',''),('HP:0008689','Bilateral cryptorchidism','Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.'),('HP:0008691','Solitary bladder diverticulum','Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.'),('HP:0008694','obsolete Hypertrophic labia minora',''),('HP:0008695','Transient nephrotic syndrome',''),('HP:0008696','Renal hamartoma','A disordered proliferation of mature tissues that are native to the kidneys.'),('HP:0008697','Hypoplasia of the fallopian tube','Developmental hypoplasia of the fallopian tube.'),('HP:0008702','Absent internal genitalia',''),('HP:0008703','Gonadal calcification','Deposition of calcium salts in gonadal tissue.'),('HP:0008705','Ureteral triplication',''),('HP:0008706','Distal urethral duplication',''),('HP:0008707','Absent scrotum','Congenital absence of the scrotum.'),('HP:0008708','Partial development of the penile shaft',''),('HP:0008711','Benign prostatic hyperplasia','The presence of non-malignant hyperplasia of the prostate.'),('HP:0008714','Ureterovesical stenosis',''),('HP:0008715','Testicular dysgenesis',''),('HP:0008716','Urethrovaginal fistula','The presence of a fistula between the vagina and the urethra.'),('HP:0008717','Unilateral renal atrophy','A unilateral form of atrophy of the kidney.'),('HP:0008718','Unilateral renal dysplasia','A unilateral form of developmental dysplasia of the kidney.'),('HP:0008720','Primary testicular failure',''),('HP:0008722','Urethral diverticulum','The presence of a diverticulum (sac or pouch) in the wall of the urethra.'),('HP:0008723','Gonadal dysgenesis with female appearance, male','Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.'),('HP:0008724','Hypoplasia of the ovary','Developmental hypoplasia of the ovary.'),('HP:0008726','Hypoplasia of the vagina','Developmental hypoplasia of the vagina.'),('HP:0008729','Absence of labia majora',''),('HP:0008730','Female external genitalia in individual with 46,XY karyotype','The presence of female external genitalia in a person with a male karyotype.'),('HP:0008732','Renal hypophosphatemia','Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.'),('HP:0008733','Dysplastic testes',''),('HP:0008734','Decreased testicular size','Reduced volume of the testicle (the male gonad).'),('HP:0008736','Hypoplasia of penis',''),('HP:0008738','Partially duplicated kidney','The presence of a partially duplicated kidney.'),('HP:0008739','Labial pseudohypertrophy',''),('HP:0008740','Longitudinal vaginal septum','The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.'),('HP:0008742','Prominent prostate median bar',''),('HP:0008743','Coronal hypospadias','A mild form of hypospadias in which the urethra opens just under the corona glandis.'),('HP:0008744','Abnormal aryepiglottic fold morphology','An abnormality of the aryepiglottic fold.'),('HP:0008747','Cartilaginous ossification of larynx','Ossification affecting the set of cartilages of larynx.'),('HP:0008749','Laryngeal hypoplasia','Underdevelopment of the larynx.'),('HP:0008750','Laryngeal atresia','Congenital absence of the lumen of the larynx.'),('HP:0008751','Laryngeal cleft','Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.'),('HP:0008752','Laryngeal cartilage malformation','A malformation of the laryngeal cartilage.'),('HP:0008753','Aplasia of the epiglottis','Absence of the epiglottis.'),('HP:0008754','Laryngeal calcification','Calcification (abnormal deposits of calcium) in the laryngeal tissues.'),('HP:0008755','Laryngotracheomalacia',''),('HP:0008756','Bowing of the vocal cords','Bowing (abnormal curvature) of the vocal folds.'),('HP:0008757','Unilateral vocal cord paralysis','A loss of the ability to move the vocal fold on one side.'),('HP:0008760','Violent behavior',''),('HP:0008762','Repetitive compulsive behavior',''),('HP:0008763','No social interaction',''),('HP:0008765','Auditory hallucinations',''),('HP:0008767','Self-mutilation of tongue and lips due to involuntary movements',''),('HP:0008768','Inappropriate sexual behavior',''),('HP:0008770','Obsessive-compulsive trait','The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.'),('HP:0008771','Aplasia/Hypoplasia of the ear','The presence of aplasia or developmental hypoplasia of the ear.'),('HP:0008772','Aplasia/Hypoplasia of the external ear','The presence of aplasia or developmental hypoplasia of all or part of the external ear.'),('HP:0008773','Aplasia/Hypoplasia of the middle ear','Aplasia or developmental hypoplasia of all or part of the middle ear.'),('HP:0008774','Aplasia/Hypoplasia of the inner ear','Aplasia or developmental hypoplasia of the inner ear.'),('HP:0008775','Abnormal prostate morphology','An abnormality of the prostate.'),('HP:0008776','Abnormal renal artery morphology','Any structural abnormality of the renal artery.'),('HP:0008777','Abnormal vocal cord morphology','An abnormality of the vocal cord.'),('HP:0008780','Congenital bilateral hip dislocation',''),('HP:0008783','Wide proximal femoral metaphysis','Increased width of the proximal part of the shaft (metaphysis) of the femur.'),('HP:0008784','Wide capital femoral epiphyses','Abnormally wide morphology of the proximal epiphysis of the femur.'),('HP:0008785','Delayed ossification of pubic rami','Delayed maturation and calcification of the rami (branches) of the pubic bone.'),('HP:0008786','Iliac crest serration','Irregularities of the iliac crest that produce the appearance of a lace border around it.'),('HP:0008788','Delayed pubic bone ossification','Delayed maturation and calcification of the pubic bone.'),('HP:0008789','Cone-shaped capital femoral epiphysis','A cone-shaped deformity of the proximal epiphysis of the femur.'),('HP:0008794','Dysplastic iliac wings',''),('HP:0008796','Externally rotated hips',''),('HP:0008797','Early ossification of capital femoral epiphyses','Developmental acceleration of ossification of the proximal epiphysis of the femur.'),('HP:0008798','Widened greater sciatic notch','The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.'),('HP:0008800','Limited hip movement','A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.'),('HP:0008801','Hypoplasia of the lesser trochanter','Underdevelopment of the lesser trochanter.'),('HP:0008802','Hypoplasia of the femoral head','Underdevelopment of the femoral head.'),('HP:0008803','obsolete Narrow sacroiliac notch',''),('HP:0008804','Broad femoral head','Increased width of the femoral head.'),('HP:0008807','Acetabular dysplasia','The presence of developmental dysplasia of the acetabular part of hip bone.'),('HP:0008808','High iliac wings','Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).'),('HP:0008812','Flattened femoral head','An abnormally flattened femoral head.'),('HP:0008817','Aplastic pubic bones',''),('HP:0008818','Large iliac wings','Increased size of the ilium ala.'),('HP:0008819','Narrow femoral neck','An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0008820','Absent ossification of capital femoral epiphysis','Lack of ossification of the proximal epiphysis of the femur.'),('HP:0008821','Hypoplastic inferior ilia',''),('HP:0008822','Hypoplastic ischiopubic rami','Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.'),('HP:0008823','Hypoplastic inferior pubic rami',''),('HP:0008824','Hypoplastic iliac body','Underdevelopment of the body of ilium.'),('HP:0008826','Dislocation of the femoral head','Joint dislocation of the femoral head.'),('HP:0008828','Delayed proximal femoral epiphyseal ossification','Developmental delay of ossification of the proximal epiphysis of the femur.'),('HP:0008829','Delayed femoral head ossification','Delayed ossification of the femoral head.'),('HP:0008830','Hypoplastic pubic rami',''),('HP:0008833','Irregular acetabular roof',''),('HP:0008835','Multicentric femoral head ossification','There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.'),('HP:0008838','Stippled calcification proximal humeral epiphyses',''),('HP:0008839','Hypoplastic pelvis','Underdevelopment of the bony pelvis.'),('HP:0008843','Hip osteoarthritis',''),('HP:0008845','Mesomelic short stature','A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).'),('HP:0008846','Severe intrauterine growth retardation','Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.'),('HP:0008848','Moderately short stature','A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.'),('HP:0008850','Severe postnatal growth retardation','Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.'),('HP:0008855','Moderate postnatal growth retardation','A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.'),('HP:0008857','Neonatal short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.'),('HP:0008866','Failure to thrive secondary to recurrent infections','Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.'),('HP:0008872','Feeding difficulties in infancy','Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.'),('HP:0008873','Disproportionate short-limb short stature','A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.'),('HP:0008883','Mild intrauterine growth retardation','Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.'),('HP:0008887','Adipose tissue loss','A loss of adipose tissue.'),('HP:0008890','Severe short-limb dwarfism',''),('HP:0008897','Postnatal growth retardation','Slow or limited growth after birth.'),('HP:0008905','Rhizomelia','Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).'),('HP:0008909','Lethal short-limbed short stature',''),('HP:0008915','Childhood-onset truncal obesity','Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.'),('HP:0008921','Neonatal short-limb short stature','A type of short-limbed dwarfism that is manifest beginning in the neonatal period.'),('HP:0008922','Childhood-onset short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.'),('HP:0008929','Asymmetric short stature',''),('HP:0008935','Generalized neonatal hypotonia','Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.'),('HP:0008936','Muscular hypotonia of the trunk','Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.'),('HP:0008940','Generalized lymphadenopathy','A generalized form of lymphadenopathy.'),('HP:0008942','Acute rhabdomyolysis','An acute form of rhabdomyolysis.'),('HP:0008944','Distal lower limb amyotrophy','Muscular atrophy of distal leg muscles.'),('HP:0008945','Loss of ability to walk in early childhood',''),('HP:0008946','Pelvic girdle amyotrophy','Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.'),('HP:0008947','Infantile muscular hypotonia','Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.'),('HP:0008948','Proximal upper limb amyotrophy','Muscular atrophy affecting proximally located muscles of the arms.'),('HP:0008952','Shoulder muscle hypoplasia','Underdevelopment of muscles of the shoulder.'),('HP:0008953','Pectoralis major hypoplasia','Underdevelopment of the pectoralis major.'),('HP:0008954','Intrinsic hand muscle atrophy','Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.'),('HP:0008955','Progressive distal muscular atrophy','Progressive muscular atrophy affecting muscles in the distal portions of the extremities.'),('HP:0008956','Proximal lower limb amyotrophy','Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.'),('HP:0008959','Distal upper limb muscle weakness','Reduced strength of the distal musculature of the arms.'),('HP:0008962','Calf muscle hypoplasia','Underdevelopment of the muscuklature of the calf.'),('HP:0008963','Tibialis muscle weakness','Muscle weakness affecting the tibialis anterior muscle.'),('HP:0008964','Nonprogressive muscular atrophy','Muscular atrophy that does not display a progression in severity with time.'),('HP:0008967','Exercise-induced muscle stiffness','A type of muscle stiffness that occurs following physical exertion.'),('HP:0008968','Muscle hypertrophy of the lower extremities','Muscle hypertrophy primarily affecting the legs.'),('HP:0008969','Leg muscle stiffness',''),('HP:0008970','Scapulohumeral muscular dystrophy',''),('HP:0008972','Decreased activity of mitochondrial respiratory chain','Decreased activity of the mitochondrial respiratory chain.'),('HP:0008978','Necrotizing myopathy',''),('HP:0008981','Calf muscle hypertrophy','Muscle hypertrophy affecting the calf muscles.'),('HP:0008984','Neck muscle hypoplasia','Underdevelopment of muscles of the neck.'),('HP:0008985','Increased intramuscular fat','An abnormal increase in the amount of intramuscular fat tissue.'),('HP:0008986','Agenesis of the diaphragm','Congenital lack, i.e., aplasia of the diaphragm.'),('HP:0008988','Pelvic girdle muscle atrophy','Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).'),('HP:0008991','Exercise-induced leg cramps','Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.'),('HP:0008993','Increased intraabdominal fat','An abnormal increase in the amount of intraabdominal fat tissue.'),('HP:0008994','Proximal muscle weakness in lower limbs','A lack of strength of the proximal muscles of the legs.'),('HP:0008997','Proximal muscle weakness in upper limbs','A lack of strength of the proximal muscles of the arms.'),('HP:0008998','Pectoralis hypoplasia','Underdevelopment of the pectoral muscle.'),('HP:0009002','Loss of truncal subcutaneous adipose tissue','Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.'),('HP:0009003','Increased subcutaneous truncal adipose tissue','The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.'),('HP:0009004','Hypoplasia of the musculature','Underdevelopment of the musculature.'),('HP:0009005','Weakness of the intrinsic hand muscles',''),('HP:0009007','Biceps hypoplasia','Underdevelopment of the biceps muscle.'),('HP:0009011','Hypoplasia of serratus anterior muscle','Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.'),('HP:0009013','Congenital absence of gluteal muscles',''),('HP:0009016','Upper limb muscle hypoplasia','Underdevelopment of muscles of the arm.'),('HP:0009017','Loss of gluteal subcutaneous adipose tissue','Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.'),('HP:0009019','Progressive loss of facial adipose tissue',''),('HP:0009020','Exercise-induced muscle fatigue','An abnormally increased tendency towards muscle fatigue induced by physical exercise.'),('HP:0009023','Abdominal wall muscle weakness','Decreased strength of the abdominal musculature.'),('HP:0009025','Increased connective tissue','The presence of an abnormally increased amount of connective tissue.'),('HP:0009026','Hypoplasia of latissimus dorsi muscle','Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.'),('HP:0009027','Foot dorsiflexor weakness','Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.'),('HP:0009028','Generalized weakness of limb muscles','Generalized weakness of the muscles of the arms and legs.'),('HP:0009031','Amyotrophy of ankle musculature','Atrophy of the muscles of the ankle.'),('HP:0009037','Segmental spinal muscular atrophy',''),('HP:0009042','Marked muscular hypertrophy','Severe hypertrophy (increase in size) of muscle cells.'),('HP:0009044','obsolete Hypoplasia of deltoid muscle',''),('HP:0009045','Exercise-induced rhabdomyolysis','Rhabdomyolysis induced by exercise.'),('HP:0009046','Difficulty running','Reduced ability to run.'),('HP:0009049','Peroneal muscle atrophy','Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).'),('HP:0009050','Quadriceps muscle atrophy','Muscular atrophy involving the quadriceps muscle.'),('HP:0009051','Increased muscle glycogen content','An increased amount of glycogen in muscle tissue.'),('HP:0009053','Distal lower limb muscle weakness','Reduced strength of the distal musculature of the legs.'),('HP:0009054','Scapuloperoneal myopathy',''),('HP:0009055','Generalized limb muscle atrophy','Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.'),('HP:0009056','Loss of subcutaneous adipose tissue from upper limbs',''),('HP:0009058','Increased muscle lipid content','An abnormal accumulation of lipids in skeletal muscle.'),('HP:0009059','Congenital generalized lipodystrophy',''),('HP:0009060','Scapular muscle atrophy','Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.'),('HP:0009062','Infantile axial hypotonia','Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.'),('HP:0009063','Progressive distal muscle weakness','Progressively reduced strength of the distal musculature.'),('HP:0009064','Generalized lipodystrophy','Generalized degenerative changes of the fat tissue.'),('HP:0009067','Progressive spinal muscular atrophy','Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.'),('HP:0009069','Lethal infantile mitochondrial myopathy',''),('HP:0009071','Inflammatory myopathy','Chronic muscle inflammation accompanied by muscle weakness.'),('HP:0009072','Decreased Achilles reflex','Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.'),('HP:0009073','Progressive proximal muscle weakness','Lack of strength of the proximal muscles that becomes progressively more severe.'),('HP:0009077','Weakness of long finger extensor muscles',''),('HP:0009084','Midline notch of upper alveolar ridge',''),('HP:0009085','Alveolar ridge overgrowth','Increased width of the alveolar ridges.'),('HP:0009087','Posteriorly placed tongue',''),('HP:0009088','Speech articulation difficulties','Impairment in the physical production of speech sounds.'),('HP:0009090','obsolete Facial diplegic appearance',''),('HP:0009092','Progressive alveolar ridge hypertropy',''),('HP:0009094','Cleft lower alveolar ridge',''),('HP:0009098','Chronic oral candidiasis','Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.'),('HP:0009099','Median cleft palate','Cleft palate of the midline of the palate.'),('HP:0009100','Thick anterior alveolar ridges',''),('HP:0009101','Submucous cleft lip','A cleft of the lip with overlying mucous membrane.'),('HP:0009102','Anterior open-bite malocclusion','A type of malocclusion in which there is a gap between the anterior teeth (incisors).'),('HP:0009103','Aplasia/Hypoplasia involving the pelvis',''),('HP:0009104','Aplasia/Hypoplasia of the pubic bone','Absence or underdevelopment of the pubic bone.'),('HP:0009105','Abnormal ossification of the pubic bone','Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.'),('HP:0009106','Abnormal pelvis bone ossification','An abnormality of the formation and mineralization of any bone of the bony pelvis.'),('HP:0009107','Abnormal ossification involving the femoral head and neck',''),('HP:0009108','Aplasia/Hypoplasia involving the femoral head and neck',''),('HP:0009109','Denervation of the diaphragm','Interruption of the innervation of the diaphragm.'),('HP:0009110','Diaphragmatic eventration','A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.'),('HP:0009112','Aplasia of the left hemidiaphragm','Congenital absence of the left half of the diaphragm.'),('HP:0009113','Diaphragmatic weakness','A decrease in the strength of the diaphragm.'),('HP:0009115','Aplasia/hypoplasia involving the skeleton','Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.'),('HP:0009116','Aplasia/Hypoplasia involving bones of the skull',''),('HP:0009117','Aplasia/Hypoplasia of the maxilla','Absence or underdevelopment of the maxilla.'),('HP:0009118','Aplasia/Hypoplasia of the mandible','Absence or underdevelopment of the mandible.'),('HP:0009119','Aplasia/Hypoplasia of the frontal sinuses','Absence or underdevelopment of frontal sinus.'),('HP:0009120','Aplasia/Hypoplasia involving the sinuses','Absence or underdevelopment of a cranial sinus or sinuses.'),('HP:0009121','Abnormal axial skeleton morphology','An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.'),('HP:0009122','Aplasia/hypoplasia affecting bones of the axial skeleton','Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.'),('HP:0009123','Mixed hypo- and hyperpigmentation of the skin',''),('HP:0009124','Abnormal adipose tissue morphology','An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.'),('HP:0009125','Lipodystrophy','Degenerative changes of the fat tissue.'),('HP:0009126','Increased adipose tissue','An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).'),('HP:0009127','Abnormality of the musculature of the limbs',''),('HP:0009128','Aplasia/Hypoplasia involving the musculature of the extremities',''),('HP:0009129','Upper limb amyotrophy','Muscular atrophy involving the muscles of the upper limbs.'),('HP:0009130','Hand muscle atrophy','Muscular atrophy involving the muscles of the hand.'),('HP:0009131','Abnormality of the musculature of the thorax','A disease or lesion affecting the muscles of the thorax.'),('HP:0009132','Abnormal tarsal bone mineral density','This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.'),('HP:0009134','Osteolysis involving bones of the feet',''),('HP:0009136','Duplication involving bones of the feet',''),('HP:0009138','Synostosis involving bones of the lower limbs','An abnormal union between bones or parts of bones lower limbs.'),('HP:0009139','Osteolysis involving bones of the lower limbs',''),('HP:0009140','Synostosis involving bones of the feet',''),('HP:0009141','Depletion of mitochondrial DNA in muscle tissue',''),('HP:0009142','Duplication of bones involving the upper extremities',''),('HP:0009144','Supernumerary bones of the axial skeleton',''),('HP:0009145','Abnormal cerebral artery morphology','Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.'),('HP:0009147','Enlarged epiphysis of the distal phalanx of the 5th finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009148','Small epiphysis of the distal phalanx of the 5th finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009149','Triangular epiphysis of the distal phalanx of the 5th finger','A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009150','Abnormality of the proximal phalanx of the 5th finger','Abnormality of the proximal phalanx of the little (5th) finger.'),('HP:0009152','Abnormality of the epiphyses of the 5th finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.'),('HP:0009153','Abnormality of the epiphysis of the proximal phalanx of the 5th finger','Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.'),('HP:0009154','Triangular epiphysis of the proximal phalanx of the 5th finger','A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009155','Cone-shaped epiphysis of the proximal phalanx of the 5th finger','A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009157','Ivory epiphysis of the proximal phalanx of the 5th finger','Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009158','Enlarged epiphysis of the proximal phalanx of the 5th finger','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009159','Small epiphysis of the proximal phalanx of the 5th finger','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009160','Absent epiphysis of the proximal phalanx of the 5th finger','Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.'),('HP:0009161','Aplasia/Hypoplasia of the middle phalanx of the 5th finger','Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.'),('HP:0009162','Absent middle phalanx of 5th finger','Absence of the middle phalanx of the little (5th) finger.'),('HP:0009163','obsolete Abnormal form of the 5th finger',''),('HP:0009164','Abnormal calcification of the carpal bones',''),('HP:0009165','Stippling of the epiphysis of the distal phalanx of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.'),('HP:0009166','Fragmentation of the epiphysis of the distal phalanx of the 5th finger','Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.'),('HP:0009167','Irregular epiphysis of the distal phalanx of the 5th finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.'),('HP:0009168','Bullet-shaped middle phalanx of the 5th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.'),('HP:0009169','Broad middle phalanx of the 5th finger','Increased width of the middle phalanx of the 5th finger.'),('HP:0009170','Osteolytic defects of the middle phalanx of the 5th finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.'),('HP:0009171','Triangular epiphyses of the metacarpals','A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.'),('HP:0009172','Abnormal 4th finger phalanx morphology','Abnormality of the phalanges of the 4th (ring) finger.'),('HP:0009173','Curved middle phalanx of the 5th finger','Curved appearance of the middle phalanx of the 5th finger.'),('HP:0009174','Abnormality of the epiphyses of the 4th finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.'),('HP:0009175','Patchy sclerosis of the middle phalanx of the 5th finger','Patchy increase in bone density of the middle phalanx of the 5th finger.'),('HP:0009177','Proximal/middle symphalangism of 5th finger','Fusion of the proximal and middle phalanges of the 5th finger.'),('HP:0009178','Symphalangism of middle phalanx of 5th finger','Fusion of the middle phalanx of the 5th finger with another bone.'),('HP:0009179','Deviation of the 5th finger','Displacement of the 5th finger from its normal position.'),('HP:0009180','Ulnar deviation of the 5th finger','Displacement of the 5th finger towards the ulnar side.'),('HP:0009182','Triangular shaped middle phalanx of the 5th finger','Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009183','Joint contracture of the 5th finger','Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009184','Contracture of the distal interphalangeal joint of the 5th finger','Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.'),('HP:0009185','Contracture of the proximal interphalangeal joint of the 5th finger','Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0009186','Contracture of the metacarpophalangeal joint of the 5th finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.'),('HP:0009187','Bracket epiphysis of the distal phalanx of the 5th finger','An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009188','Pseudoepiphysis of the distal phalanx of the 5th finger','A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009189','Fragmentation of the metacarpal epiphyses','Fragmented appearance of the epiphyses of the metacarpals.'),('HP:0009190','Irregular epiphyses of the metacarpals','Irregular radiographic opacity of the epiphyses of the metacarpals.'),('HP:0009191','Ivory epiphyses of the metacarpals','Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009192','Aplasia/Hypoplasia of the proximal phalanx of the 5th finger','Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.'),('HP:0009193','Pseudoepiphyses of the metacarpals','A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.'),('HP:0009194','Small epiphyses of the metacarpals','Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.'),('HP:0009195','Epiphyseal stippling of the metacarpals','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.'),('HP:0009196','Absent metacarpal epiphyses','Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.'),('HP:0009197','Bracket epiphysis of the proximal phalanx of the 5th finger','An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009198','Abnormality of the epiphysis of the distal phalanx of the 5th finger','Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.'),('HP:0009199','Irregular epiphysis of the proximal phalanx of the 5th finger','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.'),('HP:0009200','Pseudoepiphysis of the proximal phalanx of the 5th finger','A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009201','Stippling of the epiphysis of the proximal phalanx of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.'),('HP:0009202','Fragmentation of the epiphysis of the proximal phalanx of the 5th finger','Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.'),('HP:0009203','Absent epiphysis of the middle phalanx of the 5th finger','Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.'),('HP:0009204','Bracket epiphysis of the middle phalanx of the 5th finger','An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009205','Cone-shaped epiphysis of the middle phalanx of the 5th finger','A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009206','Enlarged epiphysis of the middle phalanx of the 5th finger','Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009207','Fragmentation of the epiphysis of the middle phalanx of the 5th finger','Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.'),('HP:0009208','Irregular epiphysis of the middle phalanx of the 5th finger','Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.'),('HP:0009209','Ivory epiphysis of the middle phalanx of the 5th finger','Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009210','Pseudoepiphysis of the middle phalanx of the 5th finger','A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009211','Small epiphysis of the middle phalanx of the 5th finger','Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.'),('HP:0009212','Stippling of the epiphysis of the middle phalanx of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.'),('HP:0009213','Triangular epiphysis of the middle phalanx of the 5th finger','A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009214','Absent epiphysis of the middle phalanx of the 4th finger','Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.'),('HP:0009215','Bracket epiphysis of the middle phalanx of the 4th finger','An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009216','Cone-shaped epiphysis of the middle phalanx of the 4th finger','A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009217','Enlarged epiphysis of the middle phalanx of the 4th finger','Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009218','Fragmentation of the epiphysis of the middle phalanx of the 4th finger','Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.'),('HP:0009219','Irregular epiphysis of the middle phalanx of the 4th finger','Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.'),('HP:0009220','Ivory epiphysis of the middle phalanx of the 4th finger','Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009221','Pseudoepiphysis of the middle phalanx of the 4th finger','A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009222','Small epiphysis of the middle phalanx of the 4th finger','Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009223','Stippling of the epiphysis of the middle phalanx of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.'),('HP:0009224','Triangular epiphysis of the middle phalanx of the 4th finger','A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009225','Aplasia of the proximal phalanx of the 5th finger','Absence of the proximal phalanx of the little (5th) finger.'),('HP:0009226','Short proximal phalanx of the 5th finger','Hypoplastic/small proximal phalanx of the fifth finger.'),('HP:0009227','Broad proximal phalanx of the 5th finger','Increased width of the proximal phalanx of the 5th finger.'),('HP:0009228','Bullet-shaped proximal phalanx of the 5th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.'),('HP:0009229','Curved proximal phalanx of the 5th finger','Curved appearance of the proximal phalanx of the 5th finger.'),('HP:0009230','Osteolytic defects of the proximal phalanx of the 5th finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.'),('HP:0009231','Patchy sclerosis of the proximal phalanx of the 5th finger','Patchy increase in bone density of the proximal phalanx of the 5th finger.'),('HP:0009232','Symphalangism affecting the proximal phalanx of the 5th finger','Fusion of the proximal phalanx of the 5th finger with another bone.'),('HP:0009233','Triangular shaped proximal phalanx of the 5th finger','Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009234','Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal','Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.'),('HP:0009236','Rhomboid or triangular shaped 5th finger proximal phalanx','Rhomboid or triangular shaped 5th (little) finger proximal phalanx.'),('HP:0009237','Short 5th finger','Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.'),('HP:0009238','Aplasia of the 5th finger','Absent 5th (little) finger.'),('HP:0009239','Aplasia/Hypoplasia of the distal phalanx of the 5th finger',''),('HP:0009240','Broad distal phalanx of the 5th finger','Increased width of the distal phalanx of the 5th finger.'),('HP:0009241','Bullet-shaped distal phalanx of the 5th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.'),('HP:0009242','Osteolytic defects of the distal phalanx of the 5th finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.'),('HP:0009243','Patchy sclerosis of the distal phalanx of the 5th finger','Patchy increase in bone density of the distal phalanx of the 5th finger.'),('HP:0009244','Distal/middle symphalangism of 5th finger','Fusion of the terminal/distal and middle phalanges of the 5th finger.'),('HP:0009245','Triangular shaped distal phalanx of the 5th finger','Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009246','Aplasia of the distal phalanx of the 5th finger','Absence of the distal phalanx of the little (5th) finger.'),('HP:0009247','Abnormality of the epiphysis of the middle phalanx of the 4th finger',''),('HP:0009248','Abnormality of the epiphysis of the proximal phalanx of the 4th finger',''),('HP:0009249','Abnormality of the epiphysis of the distal phalanx of the 4th finger',''),('HP:0009250','Absent epiphysis of the distal phalanx of the 4th finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.'),('HP:0009251','Bracket epiphysis of the distal phalanx of the 4th finger','An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009252','Cone-shaped epiphysis of the distal phalanx of the 4th finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009253','Enlarged epiphysis of the distal phalanx of the 4th finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009254','Fragmentation of the epiphysis of the distal phalanx of the 4th finger','Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.'),('HP:0009255','Irregular epiphysis of the distal phalanx of the 4th finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.'),('HP:0009256','Ivory epiphysis of the distal phalanx of the 4th finger','Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009257','Pseudoepiphysis of the distal phalanx of the 4th finger','A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009258','Small epiphysis of the distal phalanx of the 4th finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009259','Stippling of the epiphysis of the distal phalanx of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.'),('HP:0009260','Triangular epiphysis of the distal phalanx of the 4th finger','A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009261','Absent epiphysis of the proximal phalanx of the 4th finger','Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.'),('HP:0009262','Bracket epiphysis of the proximal phalanx of the 4th finger','An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009263','Cone-shaped epiphysis of the proximal phalanx of the 4th finger','A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009264','Enlarged epiphysis of the proximal phalanx of the 4th finger','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009265','Fragmentation of the epiphysis of the proximal phalanx of the 4th finger','Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.'),('HP:0009266','Irregular epiphysis of the proximal phalanx of the 4th finger','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.'),('HP:0009267','Ivory epiphysis of the proximal phalanx of the 4th finger','Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009268','Pseudoepiphysis of the proximal phalanx of the 4th finger','A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009269','Small epiphysis of the proximal phalanx of the 4th finger','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.'),('HP:0009270','Stippling of the epiphysis of the proximal phalanx of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.'),('HP:0009271','Triangular epiphysis of the proximal phalanx of the 4th finger','A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009272','Aplasia/Hypoplasia of the 4th finger','A small/hypoplastic or absent/aplastic 4th (ring) finger.'),('HP:0009273','Deviation of the 4th finger','Displacement of the 4th finger from its normal position.'),('HP:0009274','Joint contracture of the 4th finger','Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009275','Contracture of the distal interphalangeal joint of the 4th finger','Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.'),('HP:0009276','Contracture of the proximal interphalangeal joint of the 4th finger','Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.'),('HP:0009277','Contracture of the metacarpophalangeal joint of the 4th finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.'),('HP:0009278','Ulnar deviation of the 4th finger','Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger).'),('HP:0009279','Radial deviation of the 4th finger','Displacement of the 4th finger towards the radial side (i.e., towards the thumb).'),('HP:0009280','Short 4th finger','Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.'),('HP:0009281','Aplasia of the 4th finger','Absent 4th finger.'),('HP:0009282','Abnormality of the distal phalanx of the 4th finger',''),('HP:0009283','Abnormality of the middle phalanx of the 4th finger',''),('HP:0009284','Abnormality of the proximal phalanx of the 4th finger',''),('HP:0009285','Curved phalanges of the 4th finger','Curved appearance of the phalanges of the 4th (ring) finger.'),('HP:0009286','Curved distal phalanx of the 4th finger','Curved appearance of the distal phalanx of the 4th (ring) finger.'),('HP:0009287','Curved middle phalanx of the 4th finger','Curved appearance of the middle phalanx of the 4th (ring) finger.'),('HP:0009288','Curved proximal phalanx of the 4th finger',''),('HP:0009289','Aplasia/Hypoplasia of the distal phalanx of the 4th finger',''),('HP:0009290','Short distal phalanx of the 4th finger','Hypoplastic/small distal phalanx of the fourth finger.'),('HP:0009291','Aplasia of the distal phalanx of the 4th finger','Absence of the distal phalanx of the ring (4th) finger.'),('HP:0009292','Broad distal phalanx of the 4th finger','Increased width of the distal phalanx of the 4th finger.'),('HP:0009293','Broad middle phalanx of the 4th finger','Increased width of the middle phalanx of the 4th finger.'),('HP:0009294','Absent middle phalanx of 4th finger','Absence of the middle phalanx of the ring (4th) finger.'),('HP:0009295','Short middle phalanx of the 4th finger','Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.'),('HP:0009296','Bullet-shaped middle phalanx of the 4th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.'),('HP:0009297','Osteolytic defects of the middle phalanx of the 4th finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.'),('HP:0009298','Aplasia of the proximal phalanx of the 4th finger','Absence of the proximal phalanx of the ring (4th) finger.'),('HP:0009299','Aplasia/Hypoplasia of the middle phalanx of the 4th finger',''),('HP:0009300','Aplasia/Hypoplasia of the proximal phalanx of the 4th finger',''),('HP:0009301','Short proximal phalanx of the 4th finger','Hypoplastic/small proximal phalanx of the fourth finger.'),('HP:0009302','Bullet-shaped distal phalanx of the 4th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.'),('HP:0009303','Osteolytic defects of the distal phalanx of the 4th finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.'),('HP:0009304','Patchy sclerosis of the distal phalanx of the 4th finger','Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.'),('HP:0009305','Distal/middle symphalangism of 4th finger','Fusion of the terminal/distal and middle phalanges of the 4th finger.'),('HP:0009306','Triangular shaped distal phalanx of the 4th finger','Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009307','Patchy sclerosis of the middle phalanx of the 4th finger','Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.'),('HP:0009308','Symphalangism of middle phalanx of 4th finger','Fusion of the middle phalanx of the 4th finger with another bone.'),('HP:0009309','Triangular shaped middle phalanx of the 4th finger','Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009310','Broad proximal phalanx of the 4th finger','Increased width of the proximal phalanx of the 4th finger.'),('HP:0009311','Bullet-shaped proximal phalanx of the 4th finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.'),('HP:0009312','Osteolytic defects of the proximal phalanx of the 4th finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.'),('HP:0009313','Patchy sclerosis of the proximal phalanx of the 4th finger','Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.'),('HP:0009314','Symphalangism affecting the proximal phalanx of the 4th finger','Fusion of the proximal phalanx of the 4th finger with another bone.'),('HP:0009315','Triangular shaped proximal phalanx of the 4th finger','Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009316','Abnormal 3rd finger phalanx morphology','Abnormality of the phalanges of the 3rd (middle) finger.'),('HP:0009317','Deviation of the 3rd finger','Displacement of the 3rd finger from its normal position.'),('HP:0009318','Aplasia/Hypoplasia of the 3rd finger','A small/hypoplastic or absent/aplastic 3rd (middle) finger.'),('HP:0009319','Joint contracture of the 3rd finger','Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009320','Abnormality of the epiphyses of the 3rd finger','Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.'),('HP:0009321','Absent epiphysis of the middle phalanx of the 3rd finger','Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.'),('HP:0009322','Bracket epiphysis of the middle phalanx of the 3rd finger','An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009323','Cone-shaped epiphysis of the middle phalanx of the 3rd finger','A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009324','Enlarged epiphysis of the middle phalanx of the 3rd finger','Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009325','Fragmentation of the epiphysis of the middle phalanx of the 3rd finger','Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.'),('HP:0009326','Irregular epiphysis of the middle phalanx of the 3rd finger','Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.'),('HP:0009327','Ivory epiphysis of the middle phalanx of the 3rd finger','Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009328','Pseudoepiphysis of the middle phalanx of the 3rd finger','A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009329','Small epiphysis of the middle phalanx of the 3rd finger','Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009330','Stippling of the epiphysis of the middle phalanx of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.'),('HP:0009331','Triangular epiphysis of the middle phalanx of the 3rd finger','A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009332','Abnormality of the epiphysis of the distal phalanx of the 3rd finger',''),('HP:0009333','Abnormality of the epiphysis of the proximal phalanx of the 3rd finger',''),('HP:0009334','Abnormality of the epiphysis of the middle phalanx of the 3rd finger',''),('HP:0009335','Absent epiphysis of the distal phalanx of the 3rd finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.'),('HP:0009336','Bracket epiphysis of the distal phalanx of the 3rd finger','An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009337','Cone-shaped epiphysis of the distal phalanx of the 3rd finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009338','Enlarged epiphysis of the distal phalanx of the 3rd finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009339','Fragmentation of the epiphysis of the distal phalanx of the 3rd finger','Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.'),('HP:0009340','Irregular epiphysis of the distal phalanx of the 3rd finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.'),('HP:0009341','Ivory epiphysis of the distal phalanx of the 3rd finger','Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009342','Pseudoepiphysis of the distal phalanx of the 3rd finger','A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009343','Small epiphysis of the distal phalanx of the 3rd finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009344','Stippling of the epiphysis of the distal phalanx of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.'),('HP:0009345','Triangular epiphysis of the distal phalanx of the 3rd finger','A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009346','Absent epiphysis of the proximal phalanx of the 3rd finger','Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.'),('HP:0009347','Bracket epiphysis of the proximal phalanx of the 3rd finger','An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009348','Cone-shaped epiphysis of the proximal phalanx of the 3rd finger','A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009349','Enlarged epiphysis of the proximal phalanx of the 3rd finger','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009350','Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger','Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.'),('HP:0009351','Irregular epiphysis of the proximal phalanx of the 3rd finger','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.'),('HP:0009352','Ivory epiphysis of the proximal phalanx of the 3rd finger','Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009353','Pseudoepiphysis of the proximal phalanx of the 3rd finger','A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009354','Small epiphysis of the proximal phalanx of the 3rd finger','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.'),('HP:0009355','Stippling of the epiphysis of the proximal phalanx of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.'),('HP:0009356','Triangular epiphysis of the proximal phalanx of the 3rd finger','A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009357','Abnormality of the distal phalanx of the 3rd finger',''),('HP:0009358','Abnormality of the proximal phalanx of the 3rd finger',''),('HP:0009370','Type A brachydactyly',''),('HP:0009371','Type A1 brachydactyly',''),('HP:0009372','Type A2 brachydactyly',''),('HP:0009373','Type C brachydactyly',''),('HP:0009374','Broad phalanges of the 5th finger','Increased width of the phalanges of the 5th finger.'),('HP:0009375','Bullet-shaped phalanges of the 5th finger','A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009376','Aplasia/Hypoplasia of the phalanges of the 5th finger','Aplasia/Hypoplasia of the phalanges of the 5th finger.'),('HP:0009377','Patchy sclerosis of 5th finger phalanx','Uneven increase in bone density of one or more of the phalanges of the 5th finger.'),('HP:0009378','Triangular shaped phalanges of the 5th finger','Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009379','Rhomboid or triangular shaped 5th finger distal phalanx','Rhomboid or triangular shaped 5th (little) finger distal phalanx.'),('HP:0009380','Aplasia of the fingers','Aplasia of one or more fingers.'),('HP:0009381','Short finger','Abnormally short finger associated with developmental hypoplasia.'),('HP:0009382','Absent epiphyses of the 5th finger','Absence of one or more epiphyses of the 5th finger.'),('HP:0009383','Bracket epiphyses of the 5th finger','An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009384','Cone-shaped epiphyses of the 5th finger','A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009385','Enlarged epiphyses of the 5th finger','Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.'),('HP:0009386','Fragmentation of the epiphyses of the 5th finger','Fragmented appearance of the epiphyses of the 5th finger.'),('HP:0009387','Irregular epiphyses of the 5th finger','Irregular radiographic opacity of the epiphyses of the 5th finger.'),('HP:0009388','Ivory epiphyses of the 5th finger','Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009389','Pseudoepiphyses of the 5th finger','A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009390','Small epiphyses of the 5th finger','Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.'),('HP:0009391','Stippling of the epiphyses of the 5th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.'),('HP:0009392','Triangular epiphyses of the 5th finger','A triangular appearance of the epiphyses of the 5th finger of the hand.'),('HP:0009393','Absent epiphyses of the 4th finger','Absence of one or more epiphyses of the 4th finger.'),('HP:0009394','Bracket epiphyses of the 4th finger','An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009395','Cone-shaped epiphyses of the 4th finger','A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009396','Enlarged epiphyses of the 4th finger','Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.'),('HP:0009397','Fragmentation of the epiphyses of the 4th finger','Fragmented appearance of the epiphyses of the 4th finger.'),('HP:0009398','Irregular epiphyses of the 4th finger','Irregular radiographic opacity of the epiphyses of the 4th finger.'),('HP:0009399','Ivory epiphyses of the 4th finger','Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009400','Pseudoepiphyses of the 4th finger','A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009401','Small epiphyses of the 4th finger','Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.'),('HP:0009402','Stippling of the epiphyses of the 4th finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.'),('HP:0009403','Triangular epiphyses of the 4th finger','A triangular appearance of the epiphyses of the 4th finger of the hand.'),('HP:0009404','Broad phalanges of the 4th finger','Increased width of the phalanges of the 4th finger.'),('HP:0009405','Bullet-shaped phalanges of the 4th finger','A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009406','Patchy sclerosis of 4th finger phalanx','Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.'),('HP:0009407','Triangular shaped phalanges of the 4th finger','Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009408','Aplasia/Hypoplasia of the phalanges of the 4th finger',''),('HP:0009410','Absent epiphyses of the 3rd finger','Absence of the epiphyses of the 3rd finger.'),('HP:0009411','Bracket epiphyses of the 3rd finger','An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009412','Cone-shaped epiphyses of the 3rd finger','A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009413','Enlarged epiphyses of the 3rd finger','Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.'),('HP:0009414','Fragmentation of the epiphyses of the 3rd finger','Fragmented appearance of the epiphyses of the 3rd finger.'),('HP:0009415','Irregular epiphyses of the 3rd finger','Irregular radiographic opacity of the epiphyses of the 3rd finger.'),('HP:0009416','Ivory epiphyses of the 3rd finger','Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009417','Pseudoepiphyses of the 3rd finger','A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009418','Small epiphyses of the 3rd finger','Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.'),('HP:0009419','Stippling of the epiphyses of the 3rd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.'),('HP:0009420','Triangular epiphyses of the 3rd finger','A triangular appearance of the epiphyses of the 3rd finger of the hand.'),('HP:0009421','Aplasia/Hypoplasia of the distal phalanx of the 3rd finger',''),('HP:0009422','Broad distal phalanx of the 3rd finger','Increased width of the distal phalanx of the 3rd finger.'),('HP:0009423','Bullet-shaped distal phalanx of the 3rd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.'),('HP:0009424','Osteolytic defects of the distal phalanx of the 3rd finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.'),('HP:0009425','Patchy sclerosis of the distal phalanx of the 3rd finger','Uneven (irregular) increase in bone density of the distal phalanx of the third finger.'),('HP:0009426','Distal/middle symphalangism of 3rd finger','Fusion of the terminal/distal and middle phalanges of the 3rd finger.'),('HP:0009427','Triangular shaped distal phalanx of the 3rd finger','Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009428','Curved distal phalanx of the 3rd finger','Curved appearance of the distal phalanx of the 3rd finger.'),('HP:0009429','Aplasia of the distal phalanx of the 3rd finger','Absence of the distal phalanx of the middle (3rd) finger.'),('HP:0009430','Broad middle phalanx of the 3rd finger','Increased width of the middle phalanx of the 3rd finger.'),('HP:0009431','Bullet-shaped middle phalanx of the 3rd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.'),('HP:0009432','Curved middle phalanx of the 3rd finger','Curved appearance of the middle phalanx of the 3rd (middle) finger.'),('HP:0009433','Osteolytic defects of the middle phalanx of the 3rd finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.'),('HP:0009434','Patchy sclerosis of the middle phalanx of the 3rd finger','Uneven (irregular) increase in bone density of the middle phalanx of the third finger.'),('HP:0009435','Symphalangism of middle phalanx of 3rd finger','Fusion of the middle phalanx of the 3rd finger with another bone.'),('HP:0009436','Triangular shaped middle phalanx of the 3rd finger','Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009437','Aplasia/Hypoplasia of the middle phalanx of the 3rd finger',''),('HP:0009438','Absent middle phalanx of 3rd finger','Absence of the middle phalanx of the middle (3rd) finger.'),('HP:0009439','Short middle phalanx of the 3rd finger','Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.'),('HP:0009440','Broad phalanges of the 3rd finger','Increased width of the phalanges of the 3rd finger.'),('HP:0009441','Bullet-shaped phalanges of the 3rd finger','A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009442','Curved phalanges of the 3rd finger','Curved appearance of the phalanges of the 3rd finger.'),('HP:0009443','Osteolytic defects of the phalanges of the 3rd finger','Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.'),('HP:0009444','Patchy sclerosis of 3rd finger phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.'),('HP:0009445','Symphalangism of the 3rd finger','Fusion of two or more bones of the 3rd finger.'),('HP:0009446','Triangular shaped phalanges of the 3rd finger','Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009447','Aplasia/Hypoplasia of the phalanges of the 3rd finger',''),('HP:0009448','obsolete Aplasia of the phalanges of the 3rd finger',''),('HP:0009449','obsolete Hypoplastic/small phalanges of the 3rd finger',''),('HP:0009450','Broad proximal phalanx of the 3rd finger','Increased width of the proximal phalanx of the 3rd finger.'),('HP:0009451','Bullet-shaped proximal phalanx of the 3rd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.'),('HP:0009452','Curved proximal phalanx of the 3rd finger','Curved appearance of the proximal phalanx of the 3rd finger.'),('HP:0009453','Osteolytic defects of the proximal phalanx of the 3rd finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.'),('HP:0009454','Patchy sclerosis of the proximal phalanx of the 3rd finger','Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.'),('HP:0009455','Symphalangism affecting the proximal phalanx of the 3rd finger','Fusion of the proximal phalanx of the 3rd finger with another bone.'),('HP:0009456','Triangular shaped proximal phalanx of the 3rd finger','Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009457','Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger',''),('HP:0009458','Aplasia of the proximal phalanx of the 3rd finger','Absence of the proximal phalanx of the 3rd finger.'),('HP:0009459','Short proximal phalanx of the 3rd finger','Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.'),('HP:0009460','Aplasia of the 3rd finger','Absent 3rd finger.'),('HP:0009461','Short 3rd finger','Hypoplastic/small 3rd (middle) finger.'),('HP:0009462','Radial deviation of the 3rd finger','Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).'),('HP:0009463','Ulnar deviation of the 3rd finger','Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).'),('HP:0009464','Ulnar deviation of the 2nd finger','Displacement of the 2nd (index) finger towards the ulnar side.'),('HP:0009465','Ulnar deviation of finger','Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.'),('HP:0009466','Radial deviation of finger','Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.'),('HP:0009467','Radial deviation of the 2nd finger','Displacement of the 2nd finger towards the radial side.'),('HP:0009468','Deviation of the 2nd finger','Displacement of the 2nd finger from its normal position.'),('HP:0009469','Contracture of the distal interphalangeal joint of the 3rd finger','Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.'),('HP:0009470','Contracture of the metacarpophalangeal joint of the 3rd finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.'),('HP:0009471','Contracture of the proximal interphalangeal joint of the 3rd finger','Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.'),('HP:0009473','Joint contracture of the hand','Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.'),('HP:0009477','Proximal/middle symphalangism of 4th finger','Fusion of the proximal and middle phalanges of the 4th finger.'),('HP:0009478','Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal','Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.'),('HP:0009482','Proximal/middle symphalangism of 3rd finger','Fusion of the proximal and middle phalanges of the 3rd finger.'),('HP:0009483','Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal','Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.'),('HP:0009484','Deviation of the hand or of fingers of the hand','Displacement of the hand or of fingers of the hand from their normal position.'),('HP:0009485','Radial deviation of the hand or of fingers of the hand',''),('HP:0009486','Radial deviation of the hand','An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).'),('HP:0009487','Ulnar deviation of the hand','Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).'),('HP:0009488','Absent epiphyses of the 2nd finger','Absence of the epiphyses of the 2nd finger.'),('HP:0009489','Bracket epiphyses of the 2nd finger','An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009490','Cone-shaped epiphyses of the 2nd finger','A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009491','Enlarged epiphyses of the 2nd finger','Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.'),('HP:0009492','Fragmentation of the epiphyses of the 2nd finger','Fragmented appearance of the epiphyses of the 2nd finger.'),('HP:0009493','Irregular epiphyses of the 2nd finger','Irregular radiographic opacity of the epiphyses of the 2nd finger.'),('HP:0009494','Ivory epiphyses of the 2nd finger','Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009495','Pseudoepiphyses of the 2nd finger','A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009496','Small epiphyses of the 2nd finger','Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.'),('HP:0009497','Stippling of the epiphyses of the 2nd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.'),('HP:0009498','Triangular epiphyses of the 2nd finger','A triangular appearance of the epiphyses of the 2nd finger of the hand.'),('HP:0009499','Abnormality of the epiphysis of the distal phalanx of the 2nd finger',''),('HP:0009500','Abnormality of the epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009501','Abnormality of the epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009502','Absent epiphysis of the distal phalanx of the 2nd finger','Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.'),('HP:0009503','Bracket epiphysis of the distal phalanx of the 2nd finger','An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009504','Cone-shaped epiphysis of the distal phalanx of the 2nd finger','A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009505','Enlarged epiphysis of the distal phalanx of the 2nd finger','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.'),('HP:0009506','Fragmentation of the epiphysis of the distal phalanx of the 2nd finger','Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.'),('HP:0009507','Irregular epiphysis of the distal phalanx of the 2nd finger','Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.'),('HP:0009508','Ivory epiphysis of the distal phalanx of the 2nd finger','Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009509','Pseudoepiphysis of the distal phalanx of the 2nd finger','A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009510','Small epiphysis of the distal phalanx of the 2nd finger','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.'),('HP:0009511','Stippling of the epiphysis of the distal phalanx of the 2nd finger','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.'),('HP:0009512','Triangular epiphysis of the distal phalanx of the 2nd finger','A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009513','Absent epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009514','Bracket epiphysis of the middle phalanx of the 2nd finger','An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009515','Cone-shaped epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009516','Enlarged epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009517','Fragmentation of the epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009518','Irregular epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009519','Ivory epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009520','Pseudoepiphysis of the middle phalanx of the 2nd finger','A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009521','Small epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009522','Stippling of the epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009523','Triangular epiphysis of the middle phalanx of the 2nd finger',''),('HP:0009524','Absent epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009525','Bracket epiphysis of the proximal phalanx of the 2nd finger','An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009526','Cone-shaped epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009527','Enlarged epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009528','Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009529','Irregular epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009530','Ivory epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009531','Pseudoepiphysis of the proximal phalanx of the 2nd finger','A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0009532','Small epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009533','Stippling of the epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009534','Triangular epiphysis of the proximal phalanx of the 2nd finger',''),('HP:0009535','Aplasia of the 2nd finger','Absent 2nd (index) finger.'),('HP:0009536','Short 2nd finger','Hypoplasia of the second finger, also known as the index finger.'),('HP:0009537','Flexion contracture of the 2nd finger','Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009538','Contracture of the distal interphalangeal joint of the 2nd finger','Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.'),('HP:0009539','Contracture of the metacarpophalangeal joint of the 2nd finger','Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.'),('HP:0009540','Contracture of the proximal interphalangeal joint of the 2nd finger','Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.'),('HP:0009541','Abnormality of the phalanges of the 2nd finger','Abnormality of the phalanges of the 2nd (index) finger.'),('HP:0009542','Abnormality of the distal phalanx of the 2nd finger',''),('HP:0009543','Abnormality of the middle phalanx of the 2nd finger',''),('HP:0009544','Abnormality of the proximal phalanx of the 2nd finger',''),('HP:0009545','Symphalangism of the 2nd finger',''),('HP:0009546','Triangular shaped phalanges of the 2nd finger','Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009547','Broad phalanges of the 2nd finger',''),('HP:0009548','Bullet-shaped phalanges of the 2nd finger','A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009549','Curved phalanges of the 2nd finger',''),('HP:0009550','Osteolytic defects of the phalanges of the 2nd finger',''),('HP:0009551','Patchy sclerosis of 2nd finger phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.'),('HP:0009552','Aplasia/Hypoplasia of the phalanges of the 2nd finger',''),('HP:0009553','Abnormality of the hairline','The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.'),('HP:0009554','Preauricular hair displacement','An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.'),('HP:0009555','Hypoplasia of the pharynx','Underdevelopment of the pharynx.'),('HP:0009556','Absent tibia','Absence of the tibia.'),('HP:0009557','Aplasia/Hypoplasia of the distal phalanx of the 2nd finger',''),('HP:0009558','Broad distal phalanx of the 2nd finger','Increased width of the distal phalanx of the 2nd finger.'),('HP:0009559','Bullet-shaped distal phalanx of the 2nd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.'),('HP:0009560','Curved distal phalanx of the 2nd finger','Curved appearance of the distal phalanx of the 2nd finger.'),('HP:0009561','Osteolytic defects of the distal phalanx of the 2nd finger','Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.'),('HP:0009562','Patchy sclerosis of the distal phalanx of the 2nd finger','Uneven (irregular) increase in bone density of the distal phalanx of the second finger.'),('HP:0009563','Distal/middle symphalangism of 2nd finger','Fusion of the terminal/distal and middle phalanges of the 2nd finger.'),('HP:0009564','Triangular shaped distal phalanx of the 2nd finger','Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009565','Aplasia of the distal phalanx of the 2nd finger',''),('HP:0009566','Short distal phalanx of the 2nd finger','Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.'),('HP:0009568','Aplasia/Hypoplasia of the middle phalanx of the 2nd finger',''),('HP:0009569','Broad middle phalanx of the 2nd finger','Increased width of the middle phalanx of the second finger.'),('HP:0009570','Bullet-shaped middle phalanx of the 2nd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.'),('HP:0009571','Curved middle phalanx of the 2nd finger','Curved appearance of the middle phalanx of the 2nd finger.'),('HP:0009572','Osteolytic defects of the middle phalanx of the 2nd finger','Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.'),('HP:0009573','Patchy sclerosis of the middle phalanx of the 2nd finger','Uneven (irregular) increase in bone density of the middle phalanx of the second finger.'),('HP:0009574','Symphalangism of middle phalanx of 2nd finger','Fusion of the middle phalanx of the 2nd finger with another bone.'),('HP:0009575','Triangular shaped middle phalanx of the 2nd finger','Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009576','Absent middle phalanx of 2nd finger','Absence of the middle phalanx of the index (2nd) finger.'),('HP:0009577','Short middle phalanx of the 2nd finger','Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.'),('HP:0009579','Proximal/middle symphalangism of the 2nd finger','Fusion of the proximal and middle phalanges of the 2nd finger.'),('HP:0009580','Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger',''),('HP:0009581','Broad proximal phalanx of the 2nd finger','Increased width of the proximal phalanx of the 2nd finger.'),('HP:0009582','Bullet-shaped proximal phalanx of the 2nd finger','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.'),('HP:0009583','Curved proximal phalanx of the 2nd finger','Curved appearance of the proximal phalanx of the 2nd finger.'),('HP:0009584','Osteolytic defects of the proximal phalanx of the 2nd finger','Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.'),('HP:0009585','Patchy sclerosis of the proximal phalanx of the 2nd finger','Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.'),('HP:0009586','Symphalangism affecting the proximal phalanx of the 2nd finger','Fusion of the proximal phalanx of the 2nd finger with another bone.'),('HP:0009587','Triangular shaped proximal phalanx of the 2nd finger','Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009588','Vestibular Schwannoma','A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.'),('HP:0009589','Bilateral vestibular Schwannoma','A bilateral vestibular Schwannoma (acoustic neurinoma).'),('HP:0009590','Unilateral vestibular Schwannoma','A unilateral vestibular Schwannoma (acoustic neurinoma).'),('HP:0009591','Abnormality of the vestibulocochlear nerve','Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.'),('HP:0009592','Astrocytoma','Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.'),('HP:0009593','Peripheral Schwannoma','The presence of a peripheral schwannoma.'),('HP:0009594','Retinal hamartoma','A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.'),('HP:0009595','Occasional neurofibromas','Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.'),('HP:0009596','Aplasia of the proximal phalanx of the 2nd finger','Absence of the proximal phalanx of the 2nd finger.'),('HP:0009597','Short proximal phalanx of the 2nd finger','Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.'),('HP:0009598','Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal','Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.'),('HP:0009599','Abnormality of thumb epiphysis','Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.'),('HP:0009600','Flexion contracture of thumb','Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.'),('HP:0009601','Aplasia/Hypoplasia of the thumb','Hypoplastic/small or absent thumb.'),('HP:0009602','Abnormality of thumb phalanx','A structural anomaly of one or more phalanges of the thumb.'),('HP:0009603','Deviation of the thumb','Displacement of the thumb from its normal position.'),('HP:0009606','Complete duplication of distal phalanx of the thumb','Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.'),('HP:0009608','Complete duplication of proximal phalanx of the thumb','Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009609','Duplication of the 1st metacarpal','Partail or complete duplication of the first metacarpal bone.'),('HP:0009611','Bifid distal phalanx of the thumb','Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.'),('HP:0009612','Duplication of the distal phalanx of the thumb','Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.'),('HP:0009613','Duplication of the proximal phalanx of the thumb','Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009614','Bifid proximal phalanx of the thumb','This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009615','Complete duplication of the first metacarpal','Complete duplication of the first metacarpal bone.'),('HP:0009616','Bifid first metacarpal','Partial duplication of the first metacarpal bone.'),('HP:0009617','Abnormality of the distal phalanx of the thumb','Any anomaly of the distal phalanx of thumb.'),('HP:0009618','Abnormality of the proximal phalanx of the thumb','An anomaly of the shape or form of the proximal phalanx of the thumb.'),('HP:0009620','obsolete Radial deviation of the thumb',''),('HP:0009621','obsolete Ulnar deviation of the thumb',''),('HP:0009622','Distally placed thumb','Insertion of thumb at a more distal location than normal.'),('HP:0009623','Proximal placement of thumb','Proximal mislocalization of the thumb.'),('HP:0009624','Contractures of the carpometacarpal joint of the thumb','Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.'),('HP:0009625','Contractures of the metacarpophalangeal joint of the thumb','Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.'),('HP:0009626','Contractures of the interphalangeal joint of the thumb','Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.'),('HP:0009629','Aplasia/Hypoplasia of the proximal phalanx of the thumb','This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009630','Broad proximal phalanx of the thumb','Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009631','Bullet-shaped proximal phalanx of the thumb','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.'),('HP:0009632','Curved proximal phalanx of the thumb','A deviation from the normal straight shape of the proximal phalanx of the thumb.'),('HP:0009633','Osteolytic defect of the proximal phalanx of the thumb','Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.'),('HP:0009634','Patchy sclerosis of the proximal phalanx of the thumb','An uneven increase in bone density of the proximal phalanx of the thumb.'),('HP:0009635','Synostosis of thumb phalanx','Fusion of a phalanx of the thumb with another bone.'),('HP:0009636','Triangular shaped proximal phalanx of the thumb','Triangular shaped proximal phalanx of the thumb.'),('HP:0009637','Absent proximal phalanx of thumb','Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009638','Short proximal phalanx of thumb','Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009640','Synostosis of the proximal phalanx of the thumb with the 1st metacarpal','Fusion of the proximal phalanx of the thumb with the 1st metacarpal.'),('HP:0009641','Aplasia/Hypoplasia of the distal phalanx of the thumb',''),('HP:0009642','Broad distal phalanx of the thumb','Increased width of the distal phalanx of thumb.'),('HP:0009643','Bullet-shaped distal phalanx of the thumb','Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.'),('HP:0009644','Curved distal phalanx of the thumb','A deviation from the normal straight shape of the distal phalanx of the thumb.'),('HP:0009645','Osteolytic defect of the distal phalanx of the thumb','Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.'),('HP:0009646','Patchy sclerosis of the distal phalanx of the thumb','An uneven increase in bone density of the distal phalanx of the thumb.'),('HP:0009648','Triangular shaped distal phalanx of the thumb','Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.'),('HP:0009649','Aplasia of the distal phalanx of the thumb','Absence of the distal/terminal phalanx of the thumb.'),('HP:0009650','Short distal phalanx of the thumb','Hypoplastic (short) distal phalanx of the thumb.'),('HP:0009652','Bullet-shaped thumb phalanx','An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009653','Curved thumb phalanx','A deviation from the normal straight shape of a thumb phalanx.'),('HP:0009654','Osteolytic defect of thumb phalanx','Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.'),('HP:0009655','Patchy sclerosis of thumb phalanx','An uneven increase in bone density of one or more of the phalanges of the thumb.'),('HP:0009656','Symphalangism of the thumb','Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.'),('HP:0009657','Triangular shaped thumb phalanx','Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.'),('HP:0009658','Aplasia/Hypoplasia of the phalanges of the thumb',''),('HP:0009659','Partial absence of thumb','The absence of a phalangeal segment of a thumb.'),('HP:0009660','Short phalanx of the thumb','Hypoplastic (short) thumb phalanx.'),('HP:0009662','Abnormality of the epiphysis of the distal phalanx of the thumb','Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.'),('HP:0009663','Abnormality of the epiphysis of the proximal phalanx of the thumb','This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009664','Absent epiphysis of the proximal phalanx of the thumb','Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009665','Bracket epiphysis of the proximal phalanx of the thumb','An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009666','Cone-shaped epiphysis of the proximal phalanx of the thumb','A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009667','Enlarged epiphysis of the proximal phalanx of the thumb','Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009668','Fragmentation of the epiphysis of the proximal phalanx of the thumb','Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.'),('HP:0009669','Irregular epiphysis of the proximal phalanx of the thumb','Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009670','Ivory epiphysis of the proximal phalanx of the thumb','Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009671','Pseudoepiphysis of the proximal phalanx of the thumb','A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.'),('HP:0009672','Small epiphysis of the proximal phalanx of the thumb','Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.'),('HP:0009673','Stippling of the epiphysis of the proximal phalanx of the thumb','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009674','Triangular epiphysis of the proximal phalanx of the thumb','A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009675','Absent epiphysis of the distal phalanx of the thumb','Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.'),('HP:0009676','Bracket epiphysis of the distal phalanx of the thumb','An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009677','Cone-shaped epiphysis of the distal phalanx of the thumb','A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a `ball-in-a-socket` appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.'),('HP:0009678','Enlarged epiphysis of the distal phalanx of the thumb','Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.'),('HP:0009679','Fragmentation of the epiphysis of the distal phalanx of the thumb','Epiphysis of the distal phalanx of the thumb having multiple bony fragments.'),('HP:0009680','Irregular epiphysis of the distal phalanx of the thumb','Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.'),('HP:0009681','Ivory epiphysis of the distal phalanx of the thumb','Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009682','Pseudoepiphysis of the distal phalanx of the thumb','A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.'),('HP:0009683','Small epiphysis of the distal phalanx of the thumb','Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.'),('HP:0009684','Stippling of the epiphysis of the distal phalanx of the thumb','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.'),('HP:0009685','Triangular epiphysis of the distal phalanx of the thumb','A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.'),('HP:0009686','Absent epiphyses of the thumb','Absence of one or more epiphyses of the thumb.'),('HP:0009687','Bracket epiphyses of the thumb','An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0009688','Cone-shaped epiphysis of the thumb','A cone-shaped appearance of the epiphyses of the thumb, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0009689','Enlarged thumb epiphysis','Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.'),('HP:0009690','Fragmentation of thumb epiphysis','Epiphysis of the thumb having multiple bony fragments.'),('HP:0009691','Irregular thumb epiphysis','Uneven radiographic opacity of the one or more epiphyses of the thumb.'),('HP:0009692','Ivory epiphysis of the thumb','Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0009693','Pseudoepiphysis of the thumb','A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.'),('HP:0009694','Small thumb epiphysis','Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.'),('HP:0009695','Stippling of thumb epiphysis','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.'),('HP:0009696','Triangular epiphyses of the thumb',''),('HP:0009697','Contracture of the distal interphalangeal joint of the fingers','Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.'),('HP:0009699','Osteolytic defects of the hand bones',''),('HP:0009700','Finger symphalangism','An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly.'),('HP:0009701','Metacarpal synostosis','Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).'),('HP:0009702','Carpal synostosis','Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).'),('HP:0009703','Synostosis involving the 1st metacarpal','Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009704','Chronic CSF lymphocytosis','Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.'),('HP:0009705','Synostosis involving the 2nd metacarpal',''),('HP:0009706','Synostosis involving the 3rd metacarpal',''),('HP:0009707','Synostosis involving the 4th metacarpal',''),('HP:0009708','Synostosis involving the 5th metacarpal',''),('HP:0009709','Increased CSF interferon alpha','Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).'),('HP:0009710','Chilblains','Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.'),('HP:0009711','Retinal capillary hemangioma','A benign vascular tumor of the retina without any neoplastic characteristics.'),('HP:0009713','Spinal hemangioblastoma','A hemangioblastoma of the spinal cord.'),('HP:0009714','Abnormality of the epididymis','An abnormality of the epididymis.'),('HP:0009715','Papillary cystadenoma of the epididymis','A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.'),('HP:0009716','Subependymal nodules','Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter.'),('HP:0009717','Cortical tubers','Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.'),('HP:0009718','Subependymal giant-cell astrocytoma','A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.'),('HP:0009719','Hypomelanotic macule','Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.'),('HP:0009720','Adenoma sebaceum','The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.'),('HP:0009721','Shagreen patch','A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.'),('HP:0009722','Dental enamel pits','The presence of small depressions in the dental enamel.'),('HP:0009723','Abnormality of the subungual region','A lesion located beneath a fingernail or toenail.'),('HP:0009724','Subungual fibromas','The presence of fibromata beneath finger or toenails.'),('HP:0009725','Bladder neoplasm','The presence of a neoplasm of the urinary bladder.'),('HP:0009726','Renal neoplasm','The presence of a neoplasm of the kidney.'),('HP:0009727','Achromatic retinal patches','Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.'),('HP:0009728','Neoplasm of striated muscle','A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.'),('HP:0009729','Cardiac rhabdomyoma','A benign tumor of cardiac striated muscle.'),('HP:0009730','Rhabdomyoma','A benign tumor of striated muscle.'),('HP:0009731','Cerebral hamartoma','The presence of a hamartoma of the cerebrum.'),('HP:0009732','Plexiform neurofibroma','A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.'),('HP:0009733','Glioma','The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).'),('HP:0009734','Optic nerve glioma','A glioma originating in the optic nerve or optic chiasm.'),('HP:0009735','Spinal neurofibromas','Neurofibromas originating in the spine.'),('HP:0009736','Tibial pseudarthrosis','Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.'),('HP:0009737','Lisch nodules','The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..'),('HP:0009738','Abnormality of the antihelix','An abnormality of the antihelix.'),('HP:0009739','Hypoplasia of the antihelix','Developmental hypoplasia of the antihelix.'),('HP:0009740','Aplasia of the parotid gland','Absence of the parotid gland.'),('HP:0009741','Nephrosclerosis','Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.'),('HP:0009742','Stiff shoulders','Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.'),('HP:0009743','Distichiasis','Double rows of eyelashes.'),('HP:0009744','Abnormal spinal dura mater morphology','An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.'),('HP:0009745','Spinalarachnoid cyst','Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.'),('HP:0009746','Thick nasal septum','Abnormally increased thickness of the nasal septum.'),('HP:0009747','Lumbosacral hirsutism','Abnormally increased hair growth in the lumbosacral region.'),('HP:0009748','Large earlobe','Increased volume of the earlobe, that is, abnormally prominent ear lobules.'),('HP:0009751','Aplasia of the pectoralis major muscle','Absence of the pectoralis major muscle.'),('HP:0009752','Cleft in skull base','A bony defect in the skull base.'),('HP:0009754','Fibrous syngnathia','Complete or nearly complete soft tissue fusion of the alveolar ridges.'),('HP:0009755','Ankyloblepharon','Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.'),('HP:0009756','Popliteal pterygium','A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).'),('HP:0009757','Intercrural pterygium','A pterygium (or pterygia) in the intercrural (groin) region.'),('HP:0009758','Pyramidal skinfold extending from the base to the top of the nails','Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.'),('HP:0009759','Neck pterygia','Pterygia affecting the neck.'),('HP:0009760','Antecubital pterygium','Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.'),('HP:0009761','Anterior clefting of vertebral bodies','Anterior schisis (cleft or cleavage) of vertebral bodies.'),('HP:0009762','Facial wrinkling','Excessive wrinkling of the skin of the face.'),('HP:0009763','Limb pain','Chronic pain in the limbs with no clear focal etiology.'),('HP:0009765','Low hanging columella','Columella extending inferior to the level of the nasal base, when viewed from the side.'),('HP:0009767','Aplasia/Hypoplasia of the phalanges of the hand','Small or missing phalangeal bones of the fingers of the hand.'),('HP:0009768','Broad phalanges of the hand','Increased width of the phalanges of the hand.'),('HP:0009769','Bullet-shaped phalanges of the hand','The presence of short and wide phalanges which taper distally (\"bullet shaped\").'),('HP:0009770','Curved phalanges of the hand',''),('HP:0009771','Osteolytic defects of the phalanges of the hand','Dissolution or degeneration of bone tissue of the phalanges of the hand.'),('HP:0009772','Patchy sclerosis of finger phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.'),('HP:0009773','Symphalangism affecting the phalanges of the hand','Fusion of two or more phalangeal bones of the hand.'),('HP:0009774','Triangular shaped phalanges of the hand',''),('HP:0009775','Amniotic constriction ring','Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.'),('HP:0009776','Adactyly','The absence of all phalanges of all the digits of a limb and the associated soft tissues.'),('HP:0009777','Absent thumb','Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.'),('HP:0009778','Short thumb','Hypoplasia (congenital reduction in size) of the thumb.'),('HP:0009779','3-4 toe syndactyly','Syndactyly with fusion of toes three and four.'),('HP:0009780','Iliac horns','Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.'),('HP:0009781','Lester`s sign','A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.'),('HP:0009782','Aplasia/Hypoplasia of the biceps','Absence or underdevelopment of the biceps muscle.'),('HP:0009783','Biceps aplasia','Absence of the biceps muscle.'),('HP:0009784','Aplasia/Hypoplasia of the triceps','Absence or underdevelopment of the triceps muscle.'),('HP:0009785','Triceps aplasia','Absence of the triceps muscle.'),('HP:0009786','Aplasia/Hypoplasia of the musculature of the thigh','Absence or underdevelopment involving the musculature of the thigh.'),('HP:0009787','Aplasia/Hypoplasia of the quadriceps','Absence or underdevelopment of the quadriceps muscle.'),('HP:0009788','Quadriceps aplasia','Absence of the quadriceps muscle.'),('HP:0009789','Perianal abscess','The presence of an abscess located around the anus.'),('HP:0009790','Hemisacrum','A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.'),('HP:0009791','Bifid sacrum','Presence of a bifid sacral bone.'),('HP:0009792','Teratoma','The presence of a teratoma.'),('HP:0009793','Presacral teratoma','A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).'),('HP:0009794','Branchial anomaly','Congenital developmental defect arising from the primitive branchial apparatus.'),('HP:0009795','Branchial fistula','A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.'),('HP:0009796','Branchial cyst','A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.'),('HP:0009797','Cholesteatoma','Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.'),('HP:0009798','Euthyroid goiter','A goiter that is not associated with functional thyroid abnormalities.'),('HP:0009799','Supernumerary spleens','The presence of two or more accessory spleens.'),('HP:0009800','Maternal diabetes','Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.'),('HP:0009802','Aplasia of the phalanges of the hand','Absence of one or more of the phalanges of the hand.'),('HP:0009803','Short phalanx of finger','Short (hypoplastic) phalanx of finger, affecting one or more phalanges.'),('HP:0009804','Reduced number of teeth','The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.'),('HP:0009805','Low-output congestive heart failure','A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.'),('HP:0009806','Nephrogenic diabetes insipidus','A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).'),('HP:0009808','Anomaly of the upper limb diaphyses','A structural abnormality of a diaphysis of the arm.'),('HP:0009809','Abnormality of upper limb metaphysis','An anomaly of one or more metaphyses of the arms.'),('HP:0009810','Abnormality of upper limb joint',''),('HP:0009811','Abnormality of the elbow','An anomaly of the joint that connects the upper and the lower arm.'),('HP:0009812','Amelia involving the upper limbs','Amelia of one or both upper limbs.'),('HP:0009813','Upper limb phocomelia','Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).'),('HP:0009814','Upper limb peromelia','Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.'),('HP:0009815','Aplasia/hypoplasia of the extremities','Absence (due to failure to form) or underdevelopment of the extremities.'),('HP:0009816','Lower limb undergrowth','Leg shortening because of underdevelopment of one or more bones of the lower extremity.'),('HP:0009817','Aplasia involving bones of the lower limbs',''),('HP:0009818','Amelia involving the lower limbs','Amelia of one or both legs.'),('HP:0009819','Lower limb phocomelia','Phocomelia affecting only the lower limbs.'),('HP:0009820','Lower limb peromelia','Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.'),('HP:0009821','Forearm undergrowth','Forearm shortening because of underdevelopment of one or more bones of the forearm.'),('HP:0009822','Aplasia involving forearm bones',''),('HP:0009823','Aplasia involving bones of the upper limbs',''),('HP:0009824','Upper limb undergrowth','Arm shortening because of underdevelopment of one or more bones of the upper extremity.'),('HP:0009825','Aplasia involving bones of the extremities',''),('HP:0009826','Limb undergrowth','Limb shortening because of underdevelopment of one or more bones of the extremities.'),('HP:0009827','Amelia','Congenital absence (aplasia) of one or more limbs.'),('HP:0009828','Peromelia','The distal parts of the limbs are missing leading to a stump formation.'),('HP:0009829','Phocomelia','Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).'),('HP:0009830','Peripheral neuropathy','Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.'),('HP:0009831','Mononeuropathy','A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.'),('HP:0009832','Abnormal distal phalanx morphology of finger','Any anomaly of distal phalanx of finger.'),('HP:0009833','Abnormal middle phalanx morphology of the hand','An anomaly of middle phalanx of finger.'),('HP:0009834','Abnormal proximal phalanx morphology of the hand',''),('HP:0009835','Aplasia/Hypoplasia of the distal phalanges of the hand','Absence or underdevelopment of the distal phalanges.'),('HP:0009836','Broad distal phalanx of finger','Abnormally wide (broad) distal phalanx of finger.'),('HP:0009837','Bullet-shaped distal phalanges of the hand','Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009838','Curved distal phalanges of the hand',''),('HP:0009839','Osteolytic defects of the distal phalanges of the hand',''),('HP:0009840','Patchy sclerosis of distal phalanx of finger','Uneven (irregular) increase in bone density of the distal phalanges of the hand.'),('HP:0009843','Aplasia/Hypoplasia of the middle phalanges of the hand',''),('HP:0009844','Broad middle phalanx of finger','Increased width of the middle phalanx of finger.'),('HP:0009845','Bullet-shaped middle phalanges of the hand','Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009846','Curved middle phalanges of the hand',''),('HP:0009847','Osteolytic defects of the middle phalanges of the hand',''),('HP:0009848','Patchy sclerosis of middle phalanx of finger','Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.'),('HP:0009849','Symphalangism of middle phalanx of finger','Fusion of a middle phalanx of a finger with another bone.'),('HP:0009850','Triangular shaped middle phalanges of the hand',''),('HP:0009851','Aplasia/Hypoplasia of the proximal phalanges of the hand',''),('HP:0009852','Broad proximal phalanges of the hand','Increased width of the proximal phalanges of the finger.'),('HP:0009853','Bullet-shaped proximal phalanges of the hand','Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0009854','Curved proximal phalanges of the hand',''),('HP:0009855','Osteolytic defects of the proximal phalanges of the hand',''),('HP:0009856','Patchy sclerosis of proximal phalanx of finger','Uneven increase in bone density of the proximal phalanges of the hand.'),('HP:0009857','Symphalangism affecting the proximal phalanges of the hand',''),('HP:0009858','Triangular shaped proximal phalanges of the hand',''),('HP:0009875','Triangular shaped distal phalanges of the hand',''),('HP:0009878','Cerebellar ataxia associated with quadrupedal gait','The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a `bear-like` gait with the legs held straight).'),('HP:0009879','Simplified gyral pattern','An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.'),('HP:0009880','Broad distal phalanges of all fingers','Abnormally wide (broad) distal phalanx of finger of all fingers.'),('HP:0009881','Aplasia of the distal phalanges of the hand',''),('HP:0009882','Short distal phalanx of finger','Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.'),('HP:0009883','Duplication of the distal phalanx of hand','This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009884','Tapered distal phalanges of finger','A reduction in diameter of the distal phalanx of finger towards the distal end.'),('HP:0009885','obsolete Prenatal short stature',''),('HP:0009886','Trichorrhexis nodosa','Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.'),('HP:0009887','Abnormality of hair pigmentation','An abnormality of hair pigmentation (color).'),('HP:0009888','Abnormality of secondary sexual hair','Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.'),('HP:0009889','Localized hirsutism','Abnormally increased hair growth with a localized distribution.'),('HP:0009890','High anterior hairline','Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.'),('HP:0009891','Underdeveloped supraorbital ridges','Flatness of the supraorbital portion of the frontal bones.'),('HP:0009892','Anotia','Complete absence of any auricular structures.'),('HP:0009893','Telangiectasia of the ear','The presence of telangiectasia of the ear.'),('HP:0009894','Thickened ears','Increased thickness of the external ear.'),('HP:0009895','Abnormality of the crus of the helix','An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.'),('HP:0009896','Abnormality of the antitragus','An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.'),('HP:0009897','Horizontal crus of helix','An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.'),('HP:0009898','Underdeveloped crus of the helix','Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.'),('HP:0009899','Prominent crus of helix','The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.'),('HP:0009900','Unilateral deafness','A unilateral absence of sensory perception of sound.'),('HP:0009901','Crumpled ear','Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.'),('HP:0009902','Cleft helix','A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.'),('HP:0009903','Conjunctival nodule','Presence of nodules in the conjunctiva of the eye.'),('HP:0009904','Prominent ear helix','Abnormally prominent ear helix.'),('HP:0009905','Thin ear helix','Decreased thickness of the helix of the ear.'),('HP:0009906','Aplasia/Hypoplasia of the earlobes','Absence or underdevelopment of the ear lobes.'),('HP:0009907','Attached earlobe','Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.'),('HP:0009908','Anterior creases of earlobe','Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.'),('HP:0009909','Uplifted earlobe','An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.'),('HP:0009910','Aplasia of the middle ear ossicles','Absence of the middle ear ossicles, malleus, incus, and stapes.'),('HP:0009911','Abnormal temporal bone morphology','Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.'),('HP:0009912','Abnormality of the tragus','An abnormality of the tragus.'),('HP:0009913','Aplasia/Hypoplasia of the tragus','Aplasia or developmental hypoplasia of the tragus.'),('HP:0009914','Cyclopia','Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.'),('HP:0009915','Corneal asymmetry','The presence of a size difference between the left and right cornea.'),('HP:0009916','Anisocoria','Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.'),('HP:0009917','Persistent pupillary membrane','The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.'),('HP:0009918','Ectopia pupillae','A malposition of the pupil owing to a developmental defect of the iris.'),('HP:0009919','Retinoblastoma','A tumor of the eye originating from cells of the retina.'),('HP:0009920','Nevus of Ota','A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.'),('HP:0009921','Duane anomaly','A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction'),('HP:0009922','Vascular remnant arising from the disc','Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.'),('HP:0009924','Aplasia/Hypoplasia involving the nose','Underdevelopment or absence of the nose or parts thereof.'),('HP:0009926','Epiphora','Abnormally increased lacrimation, that is, excessive tearing (watering eye).'),('HP:0009927','Aplasia of the nose','Complete absence of all nasal structures.'),('HP:0009928','Thick nasal alae','Increase in bulk of the ala nasi.'),('HP:0009929','Abnormality of the columella','An abnormality of the columella.'),('HP:0009930','Asymmetry of the nares','Asymmetry or size difference between the left and right nostril.'),('HP:0009931','Enlarged naris','Increased aperture of the nostril.'),('HP:0009932','Single naris','The presence of only a single nostril.'),('HP:0009933','Narrow naris','Slender, slit-like aperture of the nostril.'),('HP:0009934','Supernumerary naris','The presence of more than two nostrils.'),('HP:0009935','Aplasia/Hypoplasia of the nasal septum','Absence or underdevelopment of the nasal septum.'),('HP:0009936','Narrow nasal septum','Abnormally narrow nasal septum.'),('HP:0009937','Facial hirsutism','Excess facial hair.'),('HP:0009938','Sunken cheeks','Lack or loss of the soft tissues between the zygomata and mandible.'),('HP:0009939','Mandibular aplasia','Absence of the mandible.'),('HP:0009940','Asymmetry of the mandible','Lack of symmetry between the left and right mandible.'),('HP:0009941','Asymmetry of the mouth','The presence of an asymmetric mouth.'),('HP:0009942','Duplication of thumb phalanx','Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0009943','Complete duplication of thumb phalanx','A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009944','Partial duplication of thumb phalanx','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009945','Duplication of phalanx of 2nd finger','This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009946','Polydactyly affecting the 2nd finger',''),('HP:0009947','Duplication of the proximal phalanx of the 2nd finger','Partial or complete duplication of the second proximal phalanx of hand.'),('HP:0009948','Duplication of the distal phalanx of the 2nd finger','Partial or complete duplication of the distal phalanx of index finger.'),('HP:0009949','Duplication of the middle phalanx of the 2nd finger','Partial or complete duplication of the middle phalanx of index finger.'),('HP:0009950','Complete duplication of the distal phalanx of the 2nd finger','Complete duplication of the distal phalanx of index finger.'),('HP:0009951','Partial duplication of the distal phalanx of the 2nd finger','Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009952','Complete duplication of the middle phalanx of the 2nd finger','Complete duplication of the middle phalanx of index finger.'),('HP:0009953','Partial duplication of the middle phalanx of the 2nd finger','Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009954','Complete duplication of the proximal phalanx of the 2nd finger','Complete duplication of the second proximal phalanx of hand.'),('HP:0009955','Partial duplication of the proximal phalanx of the 2nd finger','Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009956','Partial duplication of the phalanges of the 2nd finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009957','Complete duplication of the phalanges of the 2nd finger','A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009958','Polydactyly affecting the 3rd finger',''),('HP:0009959','Duplication of phalanx of 3rd finger','This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009960','Complete duplication of the phalanges of the 3rd finger','A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009961','Partial duplication of the phalanges of the 3rd finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009962','Duplication of the distal phalanx of the 3rd finger','Partial or complete duplication of the distal phalanx of middle finger.'),('HP:0009963','Duplication of the middle phalanx of the 3rd finger','Partial or complete duplication of the middle phalanx of middle finger.'),('HP:0009964','Duplication of the proximal phalanx of the 3rd finger','Partial or complete duplication of the third proximal phalanx of hand.'),('HP:0009965','Complete duplication of the distal phalanx of the 3rd finger','Complete duplication of the distal phalanx of middle finger'),('HP:0009966','Complete duplication of the middle phalanx of the 3rd finger','Complete duplication of the middle phalanx of middle finger.'),('HP:0009967','Complete duplication of the proximal phalanx of the 3rd finger','Complete duplication of the third proximal phalanx of hand.'),('HP:0009968','Partial duplication of the distal phalanx of the 3rd finger','Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009969','Partial duplication of the middle phalanx of the 3rd finger','Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009970','Partial duplication of the proximal phalanx of the 3rd finger','Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009971','Polydactyly affecting the 4th finger',''),('HP:0009972','Duplication of phalanx of 4th finger','This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009973','Complete duplication of the phalanges of the 4th finger','A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009974','Partial duplication of the phalanges of the 4th finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009975','Duplication of the distal phalanx of the 4th finger','Partial or complete duplication of the distal phalanx of ring finger.'),('HP:0009976','Duplication of the middle phalanx of the 4th finger','Partial or complete duplication of the middle phalanx of ring finger.'),('HP:0009977','Duplication of the proximal phalanx of the 4th finger','Partial or complete duplication of the fourth proximal phalanx of hand.'),('HP:0009978','Complete duplication of the distal phalanx of the 4th finger','Complete duplication of the distal phalanx of ring finger.'),('HP:0009979','Complete duplication of the middle phalanx of the 4th finger','Complete duplication of the middle phalanx of ring finger.'),('HP:0009980','Complete duplication of the proximal phalanx of the 4th finger','Complete duplication of the fourth proximal phalanx of hand.'),('HP:0009981','Partial duplication of the distal phalanx of the 4th finger','Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009982','Partial duplication of the middle phalanx of the 4th finger','Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009983','Partial duplication of the proximal phalanx of the 4th finger','Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009985','Duplication of phalanx of 5th finger','This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009986','Complete duplication of the phalanges of the 5th finger','A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009987','Partial duplication of the phalanges of the 5th finger','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0009988','Duplication of the distal phalanx of the 5th finger','Partial or complete duplication of the distal phalanx of little finger.'),('HP:0009989','Duplication of the middle phalanx of the 5th finger','Partial or complete duplication of the fifth middle phalanx of hand.'),('HP:0009990','Duplication of the proximal phalanx of the 5th finger','Partial or complete duplication of the fifth proximal phalanx of hand.'),('HP:0009991','Complete duplication of the distal phalanx of the 5th finger','Complete duplication of the distal phalanx of little finger.'),('HP:0009992','Complete duplication of the middle phalanx of the 5th finger','Complete duplication of the fifth middle phalanx of hand.'),('HP:0009993','Complete duplication of the proximal phalanx of the 5th finger','Complete duplication of the fifth proximal phalanx of hand.'),('HP:0009994','Partial duplication of the distal phalanx of the 5th finger','Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009995','Partial duplication of the middle phalanx of the 5th finger','Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009996','Partial duplication of the proximal phalanx of the 5th finger','Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.'),('HP:0009997','Duplication of phalanx of hand','This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0009998','Complete duplication of phalanx of hand','A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0009999','Partial duplication of the phalanx of hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010000','Complete duplication of the proximal phalanges of the hand','A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.'),('HP:0010001','Complete duplication of the distal phalanges of the hand','A complete duplication affecting one or more of the distal phalanges of the hand.'),('HP:0010002','Complete duplication of the middle phalanges of the hand','A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.'),('HP:0010003','Partial duplication of the proximal phalanges of the hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010004','Partial duplication of the distal phalanges of the hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010005','Partial duplication of the middle phalanges of the hand','A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.'),('HP:0010006','Duplication of the proximal phalanx of hand','This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0010008','Duplication of the middle phalanx of hand','This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.'),('HP:0010009','Abnormality of the 1st metacarpal','A structural anomaly of the first metacarpal.'),('HP:0010010','Abnormality of the 2nd metacarpal','Any abnormality of the second metacarpal bone.'),('HP:0010011','Abnormality of the 3rd metacarpal','Any abnormality of the third metacarpal bone.'),('HP:0010012','Abnormality of the 4th metacarpal','Any abnormality of the fourth metacarpal bone.'),('HP:0010013','Abnormality of the 5th metacarpal','Any abnormality of the fifth metacarpal bone.'),('HP:0010014','Abnormality of the epiphysis of the 1st metacarpal','In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.'),('HP:0010015','Absent epiphysis of the 1st metacarpal',''),('HP:0010016','Bracket epiphysis of the 1st metacarpal','An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter `C` and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.'),('HP:0010017','Cone-shaped epiphysis of the 1st metacarpal','A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a `ball-in-a-socket` appearance.'),('HP:0010018','Enlarged epiphysis of the 1st metacarpal','Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.'),('HP:0010019','Fragmentation of the epiphysis of the 1st metacarpal','Epiphysis of the 1st metacarpal having multiple bony fragments.'),('HP:0010020','Irregular epiphysis of the 1st metacarpal','Uneven radiographic opacity of the epiphysis of the 1st metacarpal.'),('HP:0010021','Ivory epiphysis of the 1st metacarpal','The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010022','Pseudoepiphysis of the 1st metacarpal','The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.'),('HP:0010023','Small epiphysis of the 1st metacarpal','Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.'),('HP:0010024','Epiphyseal stippling of the first metacarpal','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.'),('HP:0010025','Triangular epiphysis of the 1st metacarpal',''),('HP:0010026','Aplasia/Hypoplasia of the 1st metacarpal','Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).'),('HP:0010027','Broad 1st metacarpal','Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.'),('HP:0010028','Bullet-shaped 1st metacarpal','The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\").'),('HP:0010029','Curved 1st metacarpal','A deviation from the normal straight shape of the first metacarpal.'),('HP:0010030','Osteolytic defects of the 1st metacarpal','Dissolution or degeneration of bone tissue of the 1st metacarpal.'),('HP:0010031','Patchy sclerosis of the 1st metacarpal','Uneven increase in bone density within the 1st metacarpal.'),('HP:0010033','Triangular shaped 1st metacarpal','This term applies to a triangular shaped 1st metacarpal.'),('HP:0010034','Short 1st metacarpal','A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.'),('HP:0010035','Aplasia of the 1st metacarpal','Absent first metacarpal (long bone) of the hand.'),('HP:0010036','Aplasia/Hypoplasia of the 2nd metacarpal','Aplasia or Hypoplasia affecting the 2nd metacarpal.'),('HP:0010037','Aplasia of the 2nd metacarpal','Absence of the second long bone of the hand.'),('HP:0010038','Short 2nd metacarpal','Short second metacarpal bone because of developmental hypoplasia.'),('HP:0010039','Aplasia/Hypoplasia of the 3rd metacarpal','Aplasia or Hypoplasia affecting the 3rd metacarpal.'),('HP:0010040','Aplasia of the 3rd metacarpal','Absence of the third long bone of the hand.'),('HP:0010041','Short 3rd metacarpal','Short third metacarpal bone.'),('HP:0010042','Aplasia/Hypoplasia of the 4th metacarpal','Aplasia or Hypoplasia affecting the 4th metacarpal.'),('HP:0010043','Aplasia of the 4th metacarpal','Absence of the fourth long bone of the hand.'),('HP:0010044','Short 4th metacarpal','Short fourth metacarpal bone.'),('HP:0010045','Aplasia/Hypoplasia of the 5th metacarpal','Aplasia or Hypoplasia affecting the 5th metacarpal.'),('HP:0010046','Aplasia of the 5th metacarpal','Absence of the fifth long bone of the hand.'),('HP:0010047','Short 5th metacarpal','Short fifth metacarpal bone.'),('HP:0010048','Aplasia of metacarpal bones','Developmental defect associated with absence of one or more metacarpal bones.'),('HP:0010049','Short metacarpal','Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.'),('HP:0010051','Deviation of the hallux','Displacement of the big toe from its normal position.'),('HP:0010052','Abnormal morphology of the proximal phalanx of the hallux','An abnormal shape or form of the proximal phalanx of the big toe.'),('HP:0010053','Abnormality of the distal phalanx of the hallux',''),('HP:0010054','Abnormality of the first metatarsal bone','An anomaly of the first metatarsal bone.'),('HP:0010055','Broad hallux','Visible increase in width of the hallux without an increase in the dorso-ventral dimension.'),('HP:0010056','Abnormality of the epiphyses of the hallux',''),('HP:0010057','Abnormality of the phalanges of the hallux',''),('HP:0010058','Aplasia/Hypoplasia of the phalanges of the hallux',''),('HP:0010059','Broad hallux phalanx','An increase in width in one or more phalanges of the big toe.'),('HP:0010060','Bullet-shaped hallux phalanx','An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010061','Curved hallux phalanx','A deviation from the normal straight form of one or more phalanges of the big toe.'),('HP:0010062','Osteolytic defects of the phalanges of the hallux',''),('HP:0010063','Patchy sclerosis of hallux phalanx','Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010064','Symphalangism affecting the phalanges of the hallux',''),('HP:0010065','Triangular shaped phalanges of the hallux',''),('HP:0010066','Duplication of phalanx of hallux','Partial or complete duplication of one or more phalanx of big toe.'),('HP:0010067','Aplasia/hypoplasia of the 1st metatarsal','Absence or underdevelopment of the first metatarsal bone.'),('HP:0010068','Broad first metatarsal','Increased side-to-side width of the first metatarsal bone.'),('HP:0010069','Bullet-shaped 1st metatarsal','An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.'),('HP:0010070','Curved 1st metatarsal','A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.'),('HP:0010071','Osteolytic defects of the 1st metatarsal','Dissolution or degeneration of bone tissue of the first metatarsal.'),('HP:0010072','Patchy sclerosis of the 1st metatarsal',''),('HP:0010073','Synostosis involving the 1st metatarsal',''),('HP:0010074','Triangular shaped 1st metatarsal',''),('HP:0010075','Duplication of the 1st metatarsal','A developmental defect consisting in the duplication of the first metatarsal bone.'),('HP:0010076','Aplasia/Hypoplasia of the distal phalanx of the hallux',''),('HP:0010077','Broad distal phalanx of the hallux','An increase in width of the distal phalanx of the big toe.'),('HP:0010078','Bullet-shaped distal phalanx of the hallux','An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010079','Curved distal phalanx of the hallux','A deviation from the normal straight form of the distal phalanx of the big toe.'),('HP:0010080','Osteolytic defects of the distal phalanx of the hallux',''),('HP:0010081','Patchy sclerosis of the distal phalanx of the hallux',''),('HP:0010082','Symphalangism affecting the distal phalanx of the hallux',''),('HP:0010083','Triangular shaped distal phalanx of the hallux',''),('HP:0010084','Duplication of the distal phalanx of the hallux',''),('HP:0010085','Aplasia/Hypoplasia of the proximal phalanx of the hallux',''),('HP:0010086','Broad proximal phalanx of the hallux','Increased width of proximal phalanx of big toe.'),('HP:0010087','Bullet-shaped proximal phalanx of the hallux','An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010088','Curved proximal phalanx of the hallux','A deviation from the normal straight form of the proximal phalanx of the big toe.'),('HP:0010089','Osteolytic defects of the proximal phalanx of the hallux',''),('HP:0010090','Patchy sclerosis of the proximal phalanx of the hallux',''),('HP:0010091','Symphalangism affecting the proximal phalanx of the hallux',''),('HP:0010092','Triangular shaped proximal phalanx of the hallux',''),('HP:0010093','Duplication of the proximal phalanx of the hallux','Partial or complete duplication of the proximal phalanx of big toe.'),('HP:0010094','Complete duplication of the proximal phalanx of the hallux','Complete duplication of the proximal phalanx of big toe.'),('HP:0010095','Partial duplication of the proximal phalanx of the hallux','Partial duplication of the proximal phalanx of big toe.'),('HP:0010096','Complete duplication of the distal phalanx of the hallux',''),('HP:0010097','Partial duplication of the distal phalanx of the hallux',''),('HP:0010098','Complete duplication of the 1st metatarsal','A developmental defect consisting in the complete duplication of the first metatarsal bone.'),('HP:0010099','Partial duplication of the 1st metatarsal','A developmental defect consisting in the duplication of part of the first metatarsal bone.'),('HP:0010100','Complete duplication of hallux phalanx','Complete duplication of one or more phalanx of big toe.'),('HP:0010101','Partial duplication of the phalanges of the hallux',''),('HP:0010102','Aplasia of the distal phalanx of the hallux',''),('HP:0010103','Short distal phalanx of hallux','Underdevelopment (hypoplasia) of the distal phalanx of big toe.'),('HP:0010104','Absent first metatarsal','A developmental defect characterized by the absence of the first metatarsal bone.'),('HP:0010105','Short first metatarsal','Short first metatarsal bone.'),('HP:0010106','Aplasia of the proximal phalanx of the hallux',''),('HP:0010107','Short proximal phalanx of hallux','Underdevelopment (hypoplasia) of the proximal phalanx of big toe.'),('HP:0010109','Short hallux','Underdevelopment (hypoplasia) of the big toe.'),('HP:0010110','Aplasia of the phalanges of the hallux',''),('HP:0010111','Short phalanx of hallux','Underdevelopment (hypoplasia) of a phalanx of big toe.'),('HP:0010112','Mesoaxial foot polydactyly','The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.'),('HP:0010113','Absent hallux epiphysis','Failure to form (agenesis) of one or more epiphyses of the big toe.'),('HP:0010114','Bracket epiphyses of the hallux',''),('HP:0010115','Cone-shaped epiphyses of the hallux',''),('HP:0010116','Enlarged epiphyses of the hallux',''),('HP:0010117','Fragmentation of the epiphyses of the hallux',''),('HP:0010118','Irregular epiphyses of the hallux',''),('HP:0010119','Ivory epiphyses of the hallux',''),('HP:0010120','Pseudoepiphyses of the hallux',''),('HP:0010121','Small epiphyses of the hallux',''),('HP:0010122','Stippling of the epiphyses of the hallux','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.'),('HP:0010123','Triangular epiphyses of the hallux',''),('HP:0010124','Abnormality of the epiphysis of the distal phalanx of the hallux',''),('HP:0010125','Abnormality of the epiphysis of the 1st metatarsal','In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.'),('HP:0010126','Abnormality of the epiphysis of the proximal phalanx of the hallux','In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.'),('HP:0010127','Absent epiphysis of the proximal phalanx of the hallux','Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.'),('HP:0010128','Bracket epiphysis of the proximal phalanx of the hallux','The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.'),('HP:0010129','Cone-shaped epiphysis of the proximal phalanx of the hallux',''),('HP:0010130','Enlarged epiphysis of the proximal phalanx of the hallux',''),('HP:0010131','Fragmentation of the epiphysis of the proximal phalanx of the hallux',''),('HP:0010132','Irregular epiphysis of the proximal phalanx of the hallux',''),('HP:0010133','Ivory epiphysis of the proximal phalanx of the hallux',''),('HP:0010134','Pseudoepiphysis of the proximal phalanx of the hallux',''),('HP:0010135','Small epiphysis of the proximal phalanx of the hallux',''),('HP:0010136','Stippling of the epiphysis of the proximal phalanx of the hallux','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.'),('HP:0010137','Triangular epiphysis of the proximal phalanx of the hallux',''),('HP:0010138','Absent epiphysis of the distal phalanx of the hallux','Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.'),('HP:0010139','Bracket epiphysis of the distal phalanx of the hallux','The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.'),('HP:0010140','Cone-shaped epiphysis of the distal phalanx of the hallux',''),('HP:0010141','Enlarged epiphysis of the distal phalanx of the hallux',''),('HP:0010142','Fragmentation of the epiphysis of the distal phalanx of the hallux',''),('HP:0010143','Irregular epiphysis of the distal phalanx of the hallux',''),('HP:0010144','Ivory epiphysis of the distal phalanx of the hallux',''),('HP:0010145','Pseudoepiphysis of the distal phalanx of the hallux',''),('HP:0010146','Small epiphysis of the distal phalanx of the hallux',''),('HP:0010147','Stippling of the epiphysis of the distal phalanx of the hallux','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.'),('HP:0010148','Triangular epiphysis of the distal phalanx of the hallux',''),('HP:0010149','Absent epiphysis of the 1st metatarsal','Failure to form (agenesis) of the epiphysis of the 1st metatarsal.'),('HP:0010150','Bracket epiphysis of the 1st metatarsal','The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.'),('HP:0010151','Cone-shaped epiphysis of the 1st metatarsal','A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.'),('HP:0010152','Enlarged epiphysis of the 1st metatarsal',''),('HP:0010153','Fragmentation of the epiphysis of the 1st metatarsal',''),('HP:0010154','Irregular epiphysis of the 1st metatarsal',''),('HP:0010155','Ivory epiphysis of the 1st metatarsal','The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010156','Pseudoepiphysis of the 1st metatarsal',''),('HP:0010157','Small epiphysis of the 1st metatarsal',''),('HP:0010158','Stippling of the epiphysis of the 1st metatarsal',''),('HP:0010159','Triangular epiphysis of the 1st metatarsal',''),('HP:0010160','Abnormality of the epiphyses of the toes',''),('HP:0010161','Abnormality of the phalanges of the toes',''),('HP:0010162','Absent epiphyses of the toes','Absence of the epiphyses of the phalanges of the toes.'),('HP:0010163','Bracket epiphyses of the toes',''),('HP:0010164','Cone-shaped epiphyses of the toes',''),('HP:0010165','Enlarged epiphyses of the toes',''),('HP:0010166','Fragmentation of the epiphyses of the toes',''),('HP:0010167','Irregular epiphyses of the toes',''),('HP:0010168','Ivory epiphyses of the toes',''),('HP:0010169','Pseudoepiphyses of the toes',''),('HP:0010170','Small epiphyses of the toes',''),('HP:0010171','Epiphyseal stippling of toe phalanges','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.'),('HP:0010172','Triangular epiphyses of the toes',''),('HP:0010173','Aplasia/Hypoplasia of the phalanges of the toes',''),('HP:0010174','Broad phalanx of the toes','Increased width of phalanx of one or more toes.'),('HP:0010175','Bullet-shaped toe phalanx','An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010176','Curved toe phalanx','A deviation from the normal straight form of one or more toe phalanges.'),('HP:0010177','Osteolytic defects of the phalanges of the toes',''),('HP:0010178','Patchy sclerosis of toe phalanx','Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.'),('HP:0010179','Symphalangism affecting the phalanges of the toes',''),('HP:0010180','Triangular shaped phalanges of the toes',''),('HP:0010181','Duplication of phalanx of toe','Partial/complete duplication of one or more phalanx of toe.'),('HP:0010182','Abnormality of the distal phalanges of the toes',''),('HP:0010183','Abnormality of the middle phalanges of the toes',''),('HP:0010184','Abnormality of toe proximal phalanx','A morphological anomaly of one or more proximal phalanges of one or more toes.'),('HP:0010185','Aplasia/Hypoplasia of the distal phalanges of the toes','Absence or underdevelopment of the distal phalanges of the toes.'),('HP:0010186','Broad distal phalanx of the toes','Increased width of the distal phalanx of toe of one or more toes.'),('HP:0010187','Bullet-shaped distal toe phalanx','An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010188','Curved distal toe phalanx','A deviation from the normal straight form of one or more distal toe phalanges.'),('HP:0010189','Osteolytic defects of the distal phalanges of the toes',''),('HP:0010190','Patchy sclerosis of distal toe phalanx','Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010191','Symphalangism affecting the distal phalanges of the toes',''),('HP:0010192','Triangular shaped distal phalanges of the toes',''),('HP:0010193','Duplication of distal phalanx of toe','A partial or complete duplication of one or more distal phalanx of toe.'),('HP:0010194','Aplasia/Hypoplasia of the middle phalanges of the toes',''),('HP:0010195','Broad middle phalanges of the toes',''),('HP:0010196','Bullet-shaped middle toe phalanx','An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010197','Curved middle toe phalanx','A deviation from the normal straight form of one or more middle toe phalanges.'),('HP:0010198','Osteolytic defects of the middle phalanges of the toes',''),('HP:0010199','Patchy sclerosis of middle toe phalanx','Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010200','Symphalangism affecting the middle phalanges of the toes',''),('HP:0010201','Triangular shaped middle phalanges of the toes',''),('HP:0010202','Duplication of middle phalanx of toe','Partial or complete duplication of a middle phalanx of toe.'),('HP:0010203','Aplasia/hypoplasia of proximal toe phalanx','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes.'),('HP:0010204','Broad proximal phalanx of toe','An increase in width of one ore more proximal toe phalanges.'),('HP:0010205','Bullet-shaped proximal toe phalanx','An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010206','Curved proximal toe phalanx','A deviation from the normal straight shape of a proximal phalanx of one or more toes.'),('HP:0010207','Osteolytic defect of the proximal toe phalanx','Dissolution or degeneration of bone tissue of the proximal toe phalanx.'),('HP:0010208','Patchy sclerosis of proximal toe phalanx','Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010209','Symphalangism affecting the proximal phalanges of the toes',''),('HP:0010210','Triangular shaped proximal phalanges of the toes',''),('HP:0010211','Duplication of proximal phalanx of toe','Partial/complete duplication of a proximal phalanx of toe.'),('HP:0010212','Flexion contracture of the hallux','One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.'),('HP:0010213','Contracture of the tarsometatarsal joint of the hallux','Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc`s joints.'),('HP:0010214','Contracture of the interphalangeal joint of the hallux','The interphalangeal joint of the big toe cannot be straightened actively or passively.'),('HP:0010215','Contractures of the metatarsophalangeal joint of the hallux','The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.'),('HP:0010219','Structural foot deformity','A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.'),('HP:0010220','Abnormality of the epiphysis of the 2nd metacarpal','Any abnormality of the epiphysis of the second metacarpal bone.'),('HP:0010221','obsolete Pseudoepiphysis of the 2nd metacarpal',''),('HP:0010222','Abnormality of the epiphysis of the 3rd metacarpal','Any abnormality of the epiphysis of the third metacarpal bone.'),('HP:0010223','Pseudoepiphysis of the 3rd metacarpal','The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.'),('HP:0010224','Abnormality of the epiphysis of the 4th metacarpal','Any abnormality of the epiphysis of the 4th metacarpal bone.'),('HP:0010225','Pseudoepiphysis of the 4th metacarpal','The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.'),('HP:0010226','Abnormality of the epiphysis of the 5th metacarpal','Any abnormality of the epiphysis of the fifth metacarpal bone.'),('HP:0010227','Pseudoepiphysis of the 5th metacarpal','The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.'),('HP:0010228','Absent epiphyses of the phalanges of the hand','Absence of one or more epiphyses of the phalanges of the fingers.'),('HP:0010229','Bracket epiphyses of the phalanges of the hand','Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010230','Cone-shaped epiphyses of the phalanges of the hand','A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a `ball-in-a-socket` appearance. The related entity `angel-shaped` epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.'),('HP:0010231','Enlarged epiphyses of the phalanges of the hand','Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.'),('HP:0010232','Fragmentation of the epiphyses of the phalanges of the hand','Fragmented appearance of the epiphyses of the phalanges of the fingers.'),('HP:0010233','Irregular epiphyses of the phalanges of the hand','Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.'),('HP:0010234','Ivory epiphyses of the phalanges of the hand','Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0010235','Pseudoepiphyses of the phalanges of the hand','A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010236','Small epiphyses of the phalanges of the hand','Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.'),('HP:0010237','Epiphyseal stippling of finger phalanges','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.'),('HP:0010238','Triangular epiphyses of the phalanges of the hand','A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.'),('HP:0010239','Aplasia of the middle phalanx of the hand','Absence of one or more middle phalanx of a finger.'),('HP:0010241','Short proximal phalanx of finger','Congenital hypoplasia of one or more proximal phalanx of finger.'),('HP:0010242','Aplasia of the proximal phalanges of the hand',''),('HP:0010243','Abnormality of the epiphyses of the distal phalanx of finger','Any anomaly of distal epiphysis of phalanx of finger.'),('HP:0010244','Abnormality of the epiphyses of the middle phalanges of the hand',''),('HP:0010245','Abnormality of the epiphyses of the proximal phalanges of the hand',''),('HP:0010246','Absent epiphyses of the distal phalanges of the hand',''),('HP:0010247','Bracket epiphyses of the distal phalanges of the hand','An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010248','Cone-shaped epiphyses of the distal phalanges of the hand',''),('HP:0010249','Enlarged epiphyses of the distal phalanges of the hand',''),('HP:0010250','Fragmentation of the epiphyses of the distal phalanges of the hand',''),('HP:0010251','Irregular epiphyses of the distal phalanges of the hand',''),('HP:0010252','Ivory epiphyses of the distal phalanges of the hand','Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010253','Pseudoepiphyses of the distal phalanges of the hand','A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010254','Small epiphyses of the distal phalanges of the hand',''),('HP:0010255','Stippling of the epiphyses of the distal phalanges of the hand',''),('HP:0010256','Triangular epiphyses of the distal phalanges of the hand',''),('HP:0010257','Absent epiphyses of the middle phalanges of the hand',''),('HP:0010258','Bracket epiphyses of the middle phalanges of the hand','An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010259','Cone-shaped epiphyses of the middle phalanges of the hand',''),('HP:0010260','Enlarged epiphyses of the middle phalanges of the hand',''),('HP:0010261','Fragmentation of the epiphyses of the middle phalanges of the hand','Fragmented appearance of the epiphyses of the middle phalanges of the hand.'),('HP:0010262','Irregular epiphyses of the middle phalanges of the hand',''),('HP:0010263','Ivory epiphyses of the middle phalanges of the hand','Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010264','Pseudoepiphyses of the middle phalanges of the hand','A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010265','Small epiphyses of the middle phalanges of the hand',''),('HP:0010266','Stippling of the epiphyses of the middle phalanges of the hand',''),('HP:0010267','Triangular epiphyses of the middle phalanges of the hand',''),('HP:0010268','Absent epiphyses of the proximal phalanges of the hand',''),('HP:0010269','Bracket epiphyses of the proximal phalanges of the hand','An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.'),('HP:0010270','Cone-shaped epiphyses of the proximal phalanges of the hand',''),('HP:0010271','Enlarged epiphyses of the proximal phalanges of the hand',''),('HP:0010272','Fragmentation of the epiphyses of the proximal phalanges of the hand',''),('HP:0010273','Irregular epiphyses of the proximal phalanges of the hand',''),('HP:0010274','Ivory epiphyses of the proximal phalanges of the hand','Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0010275','Pseudoepiphyses of the proximal phalanges of the hand','A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.'),('HP:0010276','Small epiphyses of the proximal phalanges of the hand',''),('HP:0010277','Stippling of the epiphyses of the proximal phalanges of the hand',''),('HP:0010278','Triangular epiphyses of the proximal phalanges of the hand',''),('HP:0010280','Stomatitis','Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.'),('HP:0010281','Cleft lower lip','A gap in the lower lip.'),('HP:0010282','Thin lower lip vermilion','Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).'),('HP:0010284','Intra-oral hyperpigmentation','Increased pigmentation, either focal or generalized, of the mucosa of the mouth.'),('HP:0010285','Oral synechia','Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.'),('HP:0010286','Abnormal salivary gland morphology','Any abnormality of the salivary glands, the exocrine glands that produce saliva.'),('HP:0010287','Abnormality of the submandibular glands','Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.'),('HP:0010288','Abnormality of the sublingual glands','Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.'),('HP:0010289','Cleft of alveolar ridge of maxilla','A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth.'),('HP:0010290','Short hard palate','Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).'),('HP:0010291','Prominent palatine ridges','Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.'),('HP:0010292','Absent uvula','Lack of the uvula.'),('HP:0010293','Aplasia/Hypoplasia of the uvula','Underdevelopment or absence of the uvula.'),('HP:0010294','Palate fistula','A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.'),('HP:0010295','Aplasia/Hypoplasia of the tongue','Absence or underdevelopment of the tongue.'),('HP:0010296','Ankyloglossia','Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.'),('HP:0010297','Bifid tongue','Tongue with a median apical indentation or fork.'),('HP:0010298','Smooth tongue','Glossy appearance of the entire tongue surface.'),('HP:0010299','Abnormality of dentin','Any abnormality of dentin.'),('HP:0010300','Abnormally low-pitched voice','An abnormally low-pitched voice.'),('HP:0010301','Spinal dysraphism','A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.'),('HP:0010302','Spinal cord tumor','A neoplasm affecting the spinal cord.'),('HP:0010303','Abnormal spinal meningeal morphology','Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.'),('HP:0010304','Spinal meningeal diverticulum','An outpouching of the spinal meninges.'),('HP:0010305','Absence of the sacrum','Absence (aplasia) of the sacrum.'),('HP:0010306','Short thorax','Reduced inferior to superior extent of the thorax.'),('HP:0010307','Stridor','Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.'),('HP:0010308','Asternia','The congenital absence of the sternum.'),('HP:0010309','Bifid sternum','The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.'),('HP:0010310','Chylothorax','Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.'),('HP:0010311','Aplasia/Hypoplasia of the breasts','Absence or underdevelopment of the breasts.'),('HP:0010312','Asymmetry of the breasts','The presence of asymmetrical breasts.'),('HP:0010313','Breast hypertrophy','The presence of hypertrophy of the breast.'),('HP:0010314','Premature thelarche','Premature development of the breasts.'),('HP:0010315','Aplasia/Hypoplasia of the diaphragm','Absence or underdevelopment of the diaphragm.'),('HP:0010316','Ebstein anomaly of the tricuspid valve','Ebstein`s anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.'),('HP:0010317','Scapular aplasia','Absence of the scapulae.'),('HP:0010318','Aplasia/Hypoplasia of the abdominal wall musculature','Absence or underdevelopment of the abdominal musculature.'),('HP:0010319','Abnormality of the 2nd toe','An anomaly of the second toe.'),('HP:0010320','Abnormality of the 3rd toe','An anomaly of the third toe.'),('HP:0010321','Abnormality of the 4th toe','An anomaly of the fourth toe.'),('HP:0010322','Abnormality of the 5th toe','An anomaly of the little toe.'),('HP:0010323','Abnormality of the epiphyses of the 2nd toe',''),('HP:0010324','Abnormality of phalanx of the 2nd toe','An anomaly of a phalanx of second toe.'),('HP:0010325','Aplasia/Hypoplasia of the 2nd toe',''),('HP:0010326','Deviation of the 2nd toe',''),('HP:0010327','Flexion contracture of the 2nd toe','One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.'),('HP:0010328','Polydactyly affecting the 2nd toe',''),('HP:0010329','Abnormality of the epiphyses of the 3rd toe',''),('HP:0010330','Abnormality of the phalanges of the 3rd toe',''),('HP:0010331','Aplasia/Hypoplasia of the 3rd toe',''),('HP:0010332','Deviation of the 3rd toe',''),('HP:0010333','Flexion contracture of 3rd toe','One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.'),('HP:0010334','Polydactyly affecting the 3rd toe',''),('HP:0010335','Abnormality of the epiphyses of the 4th toe',''),('HP:0010336','Abnormality of the phalanges of the 4th toe',''),('HP:0010337','Aplasia/Hypoplasia of the 4th toe',''),('HP:0010338','Deviation of the 4th toe',''),('HP:0010339','Flexion contracture of the 4th toe','One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.'),('HP:0010340','Polydactyly affecting the 4th toe',''),('HP:0010341','Abnormality of the epiphyses of the 5th toe',''),('HP:0010342','Abnormality of the phalanges of the 5th toe',''),('HP:0010343','Aplasia/Hypoplasia of the 5th toe',''),('HP:0010344','Deviation of the 5th toe',''),('HP:0010345','Flexion contracture of the 5th toe','One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.'),('HP:0010347','Aplasia/Hypoplasia of the phalanges of the 2nd toe',''),('HP:0010348','Broad phalanges of the 2nd toe',''),('HP:0010349','Bullet-shaped 2nd toe phalanx','An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010350','Curved 2nd toe phalanx','A deviation from the normal straight form of one or more phalanges of the second toe.'),('HP:0010351','Osteolytic defects of the phalanges of the 2nd toe',''),('HP:0010352','Patchy sclerosis of 2nd toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010353','Symphalangism affecting the phalanges of the 2nd toe','Fusion of the interphalangeal joints of the 2nd toe.'),('HP:0010354','Triangular shaped phalanges of the 2nd toe',''),('HP:0010355','Duplication of the phalanges of the 2nd toe','Partial or complete duplication of a phalanx of second toe.'),('HP:0010356','Abnormality of the distal phalanx of the 2nd toe',''),('HP:0010357','Abnormality of the middle phalanx of the 2nd toe',''),('HP:0010358','Abnormality of the proximal phalanx of the 2nd toe',''),('HP:0010359','Aplasia/Hypoplasia of the phalanges of the 3rd toe',''),('HP:0010360','Broad phalanges of the 3rd toe',''),('HP:0010361','Bullet-shaped 3rd toe phalanx','An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010362','Curved 3rd toe phalanx','A deviation from the normal straight form of one or more phalanges of the third toe.'),('HP:0010363','Osteolytic defects of the phalanges of the 3rd toe',''),('HP:0010364','Patchy sclerosis of 3rd toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010365','Symphalangism affecting the phalanges of the 3rd toe',''),('HP:0010366','Triangular shaped phalanges of the 3rd toe',''),('HP:0010367','Duplication of phalanx of the 3rd toe','Partial or complete duplication of phalanx of third toe.'),('HP:0010368','Abnormality of the distal phalanx of the 3rd toe',''),('HP:0010369','Abnormality of the middle phalanx of the 3rd toe',''),('HP:0010370','Abnormality of the proximal phalanx of the 3rd toe','An anomaly of the proximal phalanx of third toe.'),('HP:0010371','Aplasia/Hypoplasia of the phalanges of the 4th toe',''),('HP:0010372','Broad phalanges of the 4th toe',''),('HP:0010373','Bullet-shaped 4th toe phalanx','An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010374','Curved 4th toe phalanx','A deviation from the normal straight form of one or more phalanges of the fourth toe.'),('HP:0010375','Osteolytic defects of the phalanges of the 4th toe',''),('HP:0010376','Patchy sclerosis of 4th toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010377','Symphalangism affecting the phalanges of the 4th toe',''),('HP:0010378','Triangular shaped phalanges of the 4th toe',''),('HP:0010379','Duplication of phalanx of the 4th toe','Partial or complete duplication of phalanx of fourth toe.'),('HP:0010380','Abnormality of the distal phalanx of the 4th toe',''),('HP:0010381','Abnormality of the middle phalanx of the 4th toe',''),('HP:0010382','Abnormality of the proximal phalanx of the 4th toe',''),('HP:0010383','Aplasia/Hypoplasia of the phalanges of the 5th toe',''),('HP:0010384','Broad phalanges of the 5th toe',''),('HP:0010385','Bullet-shaped 5th toe phalanx','An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010386','Curved 5th toe phalanx','A deviation from the normal straight form of one or more phalanges of the fifth toe.'),('HP:0010387','Osteolytic defects of the phalanges of the 5th toe',''),('HP:0010388','Patchy sclerosis of 5th toe phalanx','Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010389','Symphalangism affecting the phalanges of the 5th toe',''),('HP:0010390','Triangular shaped phalanges of the 5th toe',''),('HP:0010391','Duplication of the phalanges of the 5th toe','Partial or complete duplication of one or more phalanx of little toe.'),('HP:0010392','Abnormality of the distal phalanx of the 5th toe',''),('HP:0010393','Abnormality of the middle phalanx of the 5th toe',''),('HP:0010394','Abnormality of the proximal phalanx of the 5th toe',''),('HP:0010395','Aplasia/hypoplasia of the proximal phalanx of the 2nd toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe.'),('HP:0010396','Broad proximal phalanx of the 2nd toe',''),('HP:0010397','Bullet-shaped proximal phalanx of the 2nd toe','An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010398','Curved proximal phalanx of the 2nd toe','A deviation from the normal straight form of the proximal phalanx of the 2nd toe.'),('HP:0010399','Osteolytic defects of the proximal phalanx of the 2nd toe',''),('HP:0010400','Patchy sclerosis of the proximal phalanx of the 2nd toe',''),('HP:0010401','Symphalangism affecting the proximal phalanx of the 2nd toe',''),('HP:0010402','Triangular shaped proximal phalanx of the 2nd toe',''),('HP:0010403','Duplication of the proximal phalanx of the 2nd toe','Partial or complete duplication of proximal phalanx of second toe.'),('HP:0010404','Aplasia/Hypoplasia of the middle phalanx of the 2nd toe',''),('HP:0010405','Broad middle phalanx of the 2nd toe',''),('HP:0010406','Bullet-shaped middle phalanx of the 2nd toe','An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010407','Curved middle phalanx of the 2nd toe','A deviation from the normal straight form of the middle phalanx of the 2nd toe.'),('HP:0010408','Osteolytic defects of the middle phalanx of the 2nd toe',''),('HP:0010409','Patchy sclerosis of the middle phalanx of the 2nd toe',''),('HP:0010410','Symphalangism affecting the middle phalanx of the 2nd toe',''),('HP:0010411','Triangular shaped middle phalanx of the 2nd toe',''),('HP:0010412','Duplication of the middle phalanx of the 2nd toe','Partial or complete duplication of middle phalanx of second toe.'),('HP:0010413','Aplasia/Hypoplasia of the distal phalanx of the 2nd toe',''),('HP:0010414','Broad distal phalanx of the 2nd toe',''),('HP:0010415','Bullet-shaped distal phalanx of the 2nd toe','An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0010416','Curved distal phalanx of the 2nd toe','A deviation from the normal straight form of the distal phalanx of the 2nd toe.'),('HP:0010417','Osteolytic defects of the distal phalanx of the 2nd toe',''),('HP:0010418','Patchy sclerosis of the distal phalanx of the 2nd toe',''),('HP:0010419','Symphalangism affecting the distal phalanx of the 2nd toe',''),('HP:0010420','Triangular shaped distal phalanx of the 2nd toe',''),('HP:0010421','Duplication of the distal phalanx of the 2nd toe','Partial or complete duplication of the distal phalanx of second toe.'),('HP:0010422','Complete duplication of the proximal phalanx of the 2nd toe','Complete duplication of proximal phalanx of second toe.'),('HP:0010423','Partial duplication of the proximal phalanx of the 2nd toe','Partial duplication of proximal phalanx of second toe.'),('HP:0010424','Complete duplication of the distal phalanx of the 2nd toe','Complete duplication of the distal phalanx of second toe.'),('HP:0010425','Partial duplication of the distal phalanx of the 2nd toe','Partial duplication of the distal phalanx of second toe.'),('HP:0010426','Complete duplication of the middle phalanx of the 2nd toe','Complete duplication of middle phalanx of second toe.'),('HP:0010427','Partial duplication of the middle phalanx of the 2nd toe','Partial duplication of middle phalanx of second toe.'),('HP:0010428','Partial duplication of phalanx of the 2nd toe','Partial duplication of a phalanx of second toe.'),('HP:0010429','Complete duplication of the phalanges of the 2nd toe','Complete duplication of a phalanx of second toe.'),('HP:0010430','Aplasia of the phalanges of the 2nd toe',''),('HP:0010431','Short phalanx of the 2nd toe','Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.'),('HP:0010432','Absent distal phalanx of the 2nd toe','Absence of distal phalanx of the second toe as a result of developmental aplasia.'),('HP:0010433','Short distal phalanx of the 2nd toe','Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.'),('HP:0010434','Aplasia of the middle phalanx of the 2nd toe',''),('HP:0010435','Short middle phalanx of the 2nd toe','Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.'),('HP:0010436','Aplasia of the proximal phalanx of the 2nd toe',''),('HP:0010437','Short proximal phalanx of the 2nd toe','Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.'),('HP:0010438','Abnormal ventricular septum morphology','A structural abnormality of the interventricular septum.'),('HP:0010440','Ectopic accesory toe-like appendage','In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely `normal` digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).'),('HP:0010441','Ectopic accessory finger-like appendage','In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely `normal` digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).'),('HP:0010442','Polydactyly','A congenital anomaly characterized by the presence of supernumerary fingers or toes.'),('HP:0010443','Bifid femur','A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.'),('HP:0010444','Pulmonary insufficiency','The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.'),('HP:0010445','Primum atrial septal defect','An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks` gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.'),('HP:0010446','Tricuspid stenosis','A narrowing of the orifice of the tricuspid valve of the heart.'),('HP:0010447','Anal fistula','An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.'),('HP:0010448','Colonic atresia','A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.'),('HP:0010450','Esophageal stenosis','An abnormal narrowing of the lumen of the esophagus.'),('HP:0010451','Aplasia/Hypoplasia of the spleen','Absence or underdevelopment of the spleen.'),('HP:0010452','Ectopia of the spleen','An abnormal (non-anatomic) location of the spleen.'),('HP:0010453','Pelvic bone asymmetry','Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.'),('HP:0010454','Acetabular spurs','The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.'),('HP:0010455','Steep acetabular roof','An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.'),('HP:0010456','Abnormal greater sciatic notch morphology','An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.'),('HP:0010457','obsolete Widening of the sacrosciatic notch',''),('HP:0010458','Female pseudohermaphroditism','Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.'),('HP:0010459','True hermaphroditism','The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.'),('HP:0010460','Abnormality of the female genitalia','Abnormality of the female genital system.'),('HP:0010461','Abnormality of the male genitalia','Abnormality of the male genital system.'),('HP:0010462','Aplasia/Hypoplasia of the ovary','Aplasia or developmental hypoplasia of the ovary.'),('HP:0010463','Aplasia of the ovary','Aplasia, that is failure to develop, of the ovary.'),('HP:0010464','Streak ovary','A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.'),('HP:0010465','Precocious puberty in females','The onset of puberty before the age of 8 years in girls.'),('HP:0010468','Aplasia/Hypoplasia of the testes','Absence or underdevelopment of the testes.'),('HP:0010469','Absent testis','Testis not palpable in the scrotum or inguinal canal.'),('HP:0010470','Supernumerary testes','The presence of more than two testes.'),('HP:0010471','Oligosacchariduria','Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.'),('HP:0010472','Abnormal circulating porphyrin concentration','An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.'),('HP:0010473','Porphyrinuria','Abnormally increased excretion of porphyrins in the urine.'),('HP:0010474','Bladder stones','Buildups of minerals that form in the urinary bladder.'),('HP:0010475','Cloacal exstrophy','Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.'),('HP:0010476','Aplasia/Hypoplasia of the bladder','Absence or underdevelopment of the urinary bladder.'),('HP:0010477','Aplasia of the bladder','Aplasia (absence) of the urinary bladder.'),('HP:0010478','Abnormality of the urachus','Abnormality of the urachus.'),('HP:0010479','Patent urachus','Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.'),('HP:0010480','Urethral fistula','The presence of an abnormal connection between the urethra and another organ or the skin.'),('HP:0010481','Urethral valve','The presence of an abnormal membrane obstructing the urethra.'),('HP:0010482','Acromelia of the upper limbs','Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.'),('HP:0010483','Amniotic constriction rings of arms','Amniotic constriction rings affecting the arms.'),('HP:0010484','Hypertrophy of the upper limb','Abnormal increase in size of the upper limbs (due to an increase of the size of cells).'),('HP:0010485','Hyperextensibility at elbow','The ability of the elbow joint to move beyond its normal range of motion.'),('HP:0010486','Abnormality of the hypothenar eminence','An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).'),('HP:0010487','Small hypothenar eminence','Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.'),('HP:0010488','Aplasia/Hypoplasia of the palmar creases','Absence or underdevelopment of the palmar creases.'),('HP:0010489','Absent palmar crease','The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).'),('HP:0010490','Abnormality of the palmar creases','An abnormality of the creases of the skin of palm of hand.'),('HP:0010491','Digital constriction ring','A narrow segment of significantly reduced circumference of a digit.'),('HP:0010492','Osseous finger syndactyly','Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0010493','Long metacarpals','An abnormally increased length of the metacarpal bones.'),('HP:0010494','Acromelia of the lower limbs','Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.'),('HP:0010495','Amniotic constriction rings of legs','Amniotic constriction rings affecting the legs.'),('HP:0010496','Hypertrophy of the lower limb','Abnormal increase in size of the lower limbs (due to an increase of the size of cells).'),('HP:0010497','Sirenomelia','A developmental defect in which the legs are fused together.'),('HP:0010498','Bipartite patella','A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.'),('HP:0010499','Patellar subluxation','The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.'),('HP:0010500','Hyperextensibility of the knee','The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).'),('HP:0010501','Limitation of knee mobility','An abnormal limitation of knee joint mobility.'),('HP:0010502','Fibular bowing','A bending or abnormal curvature of the fibula.'),('HP:0010503','Fibular duplication','Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.'),('HP:0010504','Increased length of the tibia','An abnormal increase in the length of the tibia.'),('HP:0010505','Limitation of movement at ankles','An abnormal limitation of the mobility of the ankle joint.'),('HP:0010506','Abnormal plantar dermatoglyphics','An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.'),('HP:0010507','Foot asymmetry','A difference in size or shape between the left and right foot.'),('HP:0010508','Metatarsus valgus','A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.'),('HP:0010509','Aplasia of the tarsal bones','Absence of the tarsal bones.'),('HP:0010510','Hypermobility of toe joints','An ability of the toe joints to move beyond their normal range of motion.'),('HP:0010511','Long toe','Toes that appear disproportionately long compared to the foot.'),('HP:0010512','Adrenal calcification','Calcification within the adrenal glands.'),('HP:0010513','Pituitary calcification','Deposition of calcium salts in the pituitary gland.'),('HP:0010514','Hyperpituitarism','Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.'),('HP:0010515','Aplasia/Hypoplasia of the thymus','Absence or underdevelopment of the thymus.'),('HP:0010516','Thymus hyperplasia','Enlargement of the thymus.'),('HP:0010517','Ectopic thymus tissue','The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.'),('HP:0010518','Thyroglossal cyst','An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.'),('HP:0010519','Increased fetal movement','An abnormal increase in quantity or strength of fetal movements.'),('HP:0010521','Gait apraxia','Gait apraxia affecting the ability to make walking movements with the legs.'),('HP:0010522','Dyslexia','A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).'),('HP:0010523','Alexia','An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.'),('HP:0010524','Agnosia','Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.'),('HP:0010525','Finger agnosia','An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.'),('HP:0010526','Dysgraphia','A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.'),('HP:0010527','Astereognosia','Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.'),('HP:0010528','Prosopagnosia','Inability to recognize faces of familiar persons.'),('HP:0010529','Echolalia','The tendency to repeat vocalizations made by another person.'),('HP:0010530','Palatal myoclonus','Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.'),('HP:0010531','Spinal myoclonus','Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.'),('HP:0010532','Paroxysmal vertigo','Paroxysmal episodes of vertigo.'),('HP:0010533','Spasmus nutans','The combination of pendular nystagmus, head nodding, and torticollis.'),('HP:0010534','Transient global amnesia','A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.'),('HP:0010535','Sleep apnea','An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.'),('HP:0010536','Central sleep apnea','Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.'),('HP:0010537','Wide cranial sutures','An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).'),('HP:0010538','Small sella turcica','An abnormally small sella turcica.'),('HP:0010539','Thin calvarium','The presence of an abnormally thin calvarium.'),('HP:0010540','Advanced pneumatization of cranial sinuses','A degree of pneumatization that is increased compared to age-related norms.'),('HP:0010541','Cutis gyrata of scalp','The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.'),('HP:0010542','Vestibular nystagmus','Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.'),('HP:0010543','Opsoclonus','Bursts of large-amplitude multidirectional saccades without intersaccadic interval'),('HP:0010544','Vertical nystagmus','Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.'),('HP:0010545','Downbeat nystagmus','Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.'),('HP:0010546','Muscle fibrillation','Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.'),('HP:0010547','Muscle flaccidity','A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.'),('HP:0010548','Percussion myotonia','A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner`s finger, a rubber percussion hammer, or a similar object).'),('HP:0010549','Weakness due to upper motor neuron dysfunction','Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.'),('HP:0010550','Paraplegia','Severe or complete weakness of both lower extremities with sparing of the upper extremities.'),('HP:0010551','Paraplegia/paraparesis','Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.'),('HP:0010553','Oculogyric crisis','An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.'),('HP:0010554','Cutaneous finger syndactyly','A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.'),('HP:0010557','Overlapping fingers','A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.'),('HP:0010558','Abnormality of the clivus','An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.'),('HP:0010559','Vertical clivus','An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).'),('HP:0010560','Undulate clavicles','An abnormally wavy surface or edge of the clavicles.'),('HP:0010561','Undulate ribs','An abnormally wavy surface or edge of the ribs.'),('HP:0010562','Keloids',''),('HP:0010564','Bifid epiglottis','A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.'),('HP:0010565','Aplasia/Hypoplasia of the Epiglottis','This term applies if the Epiglottis is absent or hypoplastic.'),('HP:0010566','Hamartoma','A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.'),('HP:0010567','Y-shaped metatarsals','Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.'),('HP:0010568','Hamartoma of the eye','A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.'),('HP:0010569','Elevated 7-dehydrocholesterol','Elevated 7-dehydrocholesterol levels.'),('HP:0010570','Low maternal serum alpha-fetoprotein','An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.'),('HP:0010571','Elevated levels of phytanic acid','An abnormal elevation of phytanic acid.'),('HP:0010574','Abnormality of the epiphysis of the femoral head','Any abnormality of the proximal epiphysis of the femur.'),('HP:0010575','Dysplasia of the femoral head','The presence of developmental dysplasia of the femoral head.'),('HP:0010576','Intracranial cystic lesion','A cystic lesion originating within the brain.'),('HP:0010577','Absent epiphyses',''),('HP:0010578','Bracket epiphyses',''),('HP:0010579','Cone-shaped epiphysis','Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.'),('HP:0010580','Enlarged epiphyses','Increased size of epiphyses.'),('HP:0010582','Irregular epiphyses','An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.'),('HP:0010583','Ivory epiphyses','Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.'),('HP:0010584','Pseudoepiphyses',''),('HP:0010585','Small epiphyses','Reduction in the size or volume of epiphyses.'),('HP:0010587','Triangular epiphyses',''),('HP:0010588','Premature epimetaphyseal fusion','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0010590','Abnormality of the distal femoral epiphysis','Any abnormality of the distal epiphysis of the femur.'),('HP:0010591','Abnormality of the proximal tibial epiphysis','Any abnormality of the proximal epiphysis of the tibia.'),('HP:0010592','Abnormality of the distal tibial epiphysis',''),('HP:0010593','Abnormality of fibular epiphyses',''),('HP:0010594','Abnormality of the proximal fibular epiphysis','Any abnormality of the proximal epiphysis of the fibula.'),('HP:0010595','Abnormality of the distal fibular epiphysis','Any abnormality of the distal epiphysis of the fibula.'),('HP:0010596','Abnormality of the proximal radial epiphysis','Any abnormality of the proximal epiphysis of the radius.'),('HP:0010597','Abnormality of the distal radial epiphysis','Any abnormality of the distal epiphysis of the radius.'),('HP:0010598','Abnormality of the proximal humeral epiphysis','Any abnormality of the proximal epiphysis of the humerus.'),('HP:0010599','Abnormality of the distal humeral epiphysis','Any abnormality of the distal epiphysis of the humerus.'),('HP:0010600','Abnormality of the distal ulnar epiphysis','Any abnormality of the distal epiphysis of the ulna.'),('HP:0010601','Abnormality of the proximal ulnar epiphysis','Any abnormality of the proximal epiphysis of the ulna.'),('HP:0010602','Type 2 muscle fiber predominance','An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).'),('HP:0010603','Odontogenic keratocysts of the jaw','A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.'),('HP:0010604','Cyst of the eyelid',''),('HP:0010605','Chalazion','A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.'),('HP:0010606','Hordeolum','An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.'),('HP:0010607','Hordeolum externum','Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.'),('HP:0010608','Hordeolum internum','Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.'),('HP:0010609','Skin tags','Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.'),('HP:0010610','Palmar pits',''),('HP:0010612','Plantar pits','The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.'),('HP:0010614','Fibroma','Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.'),('HP:0010615','Angiofibromas','Angiofibroma consist of many often dilated vessels.'),('HP:0010616','Lung fibroma','The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.'),('HP:0010617','Cardiac fibroma','A fibroma of the heart.'),('HP:0010618','Ovarian fibroma','The presence of a fibroma of the ovary.'),('HP:0010619','Fibroadenoma of the breast','A benign biphasic tumor of the breast with epithelial and stromal components.'),('HP:0010620','Malar prominence','Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.'),('HP:0010621','Cutaneous syndactyly of toes','A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.'),('HP:0010622','Neoplasm of the skeletal system','A tumor (abnormal growth of tissue) of the skeleton.'),('HP:0010624','Aplastic/hypoplastic toenail','Absence or underdevelopment of the toenail.'),('HP:0010625','Anterior pituitary dysgenesis','Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.'),('HP:0010626','Anterior pituitary agenesis','Absence of the anterior pituitary gland resulting from a developmental defect.'),('HP:0010627','Anterior pituitary hypoplasia','Underdevelopment of the anterior pituitary gland.'),('HP:0010628','Facial palsy','Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.'),('HP:0010629','Abnormal morphology of the cortex of the humerus','Any abnormality affecting the cortex of the humerus.'),('HP:0010630','Abnormality of metatarsal epiphysis','Any abnormality of a metatarsal bone epiphysis.'),('HP:0010631','Abnormality of the epiphyses of the feet','Any abnormality of the epiphyses of the feet.'),('HP:0010632','Total anosmia','Inability to detect any qualitative olfactory sensation.'),('HP:0010633','Partial anosmia','Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).'),('HP:0010634','Total hyposmia','Reduced ability to detect any qualitative olfactory sensation.'),('HP:0010635','Partial hyposmia','Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).'),('HP:0010636','Schizencephaly','The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.'),('HP:0010637','Conjunctival amyloidosis','A form of amyloidosis that affects the conjunctiva.'),('HP:0010638','Elevated alkaline phosphatase of hepatic origin','An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010639','Elevated alkaline phosphatase of bone origin','An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010640','Abnormality of the nasal cavity','Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).'),('HP:0010641','Abnormality of the midnasal cavity','Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.'),('HP:0010643','Midnasal atresia','Absence or abnormal closure of the midnasal cavity.'),('HP:0010644','Midnasal stenosis','Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.'),('HP:0010645','Aplasia of the distal phalanges of the toes','Absence of the distal phalanges of the toes.'),('HP:0010646','Cervical spine instability','An abnormal lack of stability of the cervical spine.'),('HP:0010647','Abnormal elasticity of skin','Any abnormal increase or reduction in skin elasticity.'),('HP:0010648','Dermal translucency','An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.'),('HP:0010649','Flat nasal alae','An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).'),('HP:0010650','Hypoplasia of the premaxilla','An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.'),('HP:0010651','Abnormal meningeal morphology','An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.'),('HP:0010652','Abnormal dura mater morphology','An abnormality of the Dura mater.'),('HP:0010653','Abnormality of the falx cerebri','An abnormality of the Falx cerebri.'),('HP:0010654','Aplasia of the falx cerebri','A developmental defect characterized by aplasia of the Falx cerebri.'),('HP:0010655','Epiphyseal stippling','The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.'),('HP:0010656','Abnormal epiphyseal ossification','An abnormality of the formation and mineralization of an epiphysis.'),('HP:0010657','Patchy reduction of bone mineral density','Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0010658','Patchy changes of bone mineral density','Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).'),('HP:0010659','Patchy variation in bone mineral density','Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.'),('HP:0010660','Abnormal hand bone ossification','An abnormality of the formation and mineralization of any bone of the skeleton of hand.'),('HP:0010661','Absence of the third cerebral ventricle','A developmental defect characterized by the absence of the Third ventricle.'),('HP:0010662','Abnormality of the diencephalon','An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.'),('HP:0010663','Abnormality of thalamus morphology','An abnormality of the thalamus.'),('HP:0010664','Fusion of the left and right thalami','A developmental defect characterized by fusion of the left and right halves of the thalamus.'),('HP:0010665','Bilateral coxa valga','The presence of bilateral coxa valga.'),('HP:0010666','Hypoplasia of the anterior nasal spine','Underdevelopment of the anterior nasal spine of maxilla.'),('HP:0010667','Aplasia of the maxilla','A congenital defect characterized by absence of the Maxilla.'),('HP:0010668','Abnormality of the zygomatic bone','An abnormality of the zygomatic bone.'),('HP:0010669','Hypoplasia of the zygomatic bone','Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.'),('HP:0010672','Abnormality of the third metatarsal bone','An abnormality of the third metatarsal bone.'),('HP:0010674','Abnormality of the curvature of the vertebral column','The presence of an abnormal curvature of the vertebral column.'),('HP:0010675','Abnormal foot bone ossification','An abnormality of the formation and mineralization of any bone of the skeleton of foot.'),('HP:0010676','Mechanical ileus',''),('HP:0010677','Enuresis nocturna','Enuresis occurring during sleeping hours.'),('HP:0010678','Enuresis diurna','Enuresis occurring during waking hours of the day.'),('HP:0010679','Elevated tissue non-specific alkaline phosphatase','An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010680','Elevated alkaline phosphatase of renal origin','An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010681','Elevated intestinal alkaline phosphatase','An abnormally increased level of alkaline phosphatase, intestinal type in the blood.'),('HP:0010682','Elevated placental alkaline phosphatase','An abnormally increased level of alkaline phosphatase, placental type in the blood.'),('HP:0010683','Low tissue non-specific alkaline phosphatase','An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.'),('HP:0010684','Low alkaline phosphatase of bone origin','An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.'),('HP:0010685','Low alkaline phosphatase of renal origin','An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.'),('HP:0010686','Low alkaline phosphatase of hepatic origin','An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.'),('HP:0010687','Low intestinal alkaline phosphatase','An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.'),('HP:0010688','Low placental alkaline phosphatase','An abnormally reduced level of alkaline phosphatase, placental type in the blood.'),('HP:0010689','Mirror image polydactyly','A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes.'),('HP:0010690','Mirror image hand polydactyly','Mirror image duplication of digits affecting the hands only.'),('HP:0010691','Mirror image foot polydactyly','Mirror image duplication of digits affecting the feet.'),('HP:0010692','2-5 finger syndactyly','Syndactyly with fusion of fingers two to five.'),('HP:0010693','Pulverulent cataract','A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.'),('HP:0010694','Lamellar pulverulent cataract','A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance.'),('HP:0010695','Sutural cataract','A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.'),('HP:0010696','Polar cataract','A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.'),('HP:0010697','Anterior pyramidal cataract','A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.'),('HP:0010698','Nuclear pulverulent cataract','A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.'),('HP:0010699','Triangular nuclear cataract','A nuclear cataract with a triangular form.'),('HP:0010700','obsolete Total cataract',''),('HP:0010701','Abnormal immunoglobulin level','An abnormal deviation from normal levels of immunoglobulins in blood.'),('HP:0010702','Increased circulating antibody level','An increased level of gamma globulin (immunoglobulin) in the blood.'),('HP:0010704','1-2 finger syndactyly','Syndactyly with fusion of fingers one and two.'),('HP:0010705','4-5 finger syndactyly','Syndactyly with fusion of fingers four and five.'),('HP:0010706','1-3 finger syndactyly','Syndactyly with fusion of fingers one to three.'),('HP:0010707','1-4 finger syndactyly','Syndactyly with fusion of fingers one to four.'),('HP:0010708','1-5 finger syndactyly','Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).'),('HP:0010709','2-4 finger syndactyly','Syndactyly with fusion of the fingers two to four.'),('HP:0010710','3-5 finger syndactyly','Syndactyly with fusion of fingers three to five.'),('HP:0010711','1-2 toe syndactyly','Syndactyly with fusion of toes one and two.'),('HP:0010712','1-4 toe syndactyly','Syndactyly with fusion of toes one to four.'),('HP:0010713','1-5 toe syndactyly','Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).'),('HP:0010714','2-4 toe syndactyly','Syndactyly with fusion of toes two to four.'),('HP:0010715','2-5 toe syndactyly','Syndactyly with fusion of toes two to five.'),('HP:0010716','3-5 toe syndactyly','Syndactyly with fusion of toes three to five.'),('HP:0010717','Osseous syndactyly of toes','Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\".'),('HP:0010719','Abnormality of hair texture','An abnormality of the texture of the hair.'),('HP:0010720','Abnormal hair pattern','An abnormality of the distribution of hair growth.'),('HP:0010721','Abnormal hair whorl','An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).'),('HP:0010722','Asymmetry of the ears','An asymmetriy, i.e., difference in size, shape or position between the left and right ear.'),('HP:0010723','Cystic lesions of the pinnae',''),('HP:0010724','Advanced pneumatization of the mastoid process','An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.'),('HP:0010726','Prominent corneal nerve fibers','Abnormal prominence of the corneal nerve fibers.'),('HP:0010727','Spontaneous rupture of the globe','Rupture of the eyeball not due to trauma.'),('HP:0010728','Aplasia of the retina','A developmental defect characterized by absence of the retina.'),('HP:0010729','Cherry red spot of the macula','Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.'),('HP:0010730','Double eyebrow','This may present as a partial or complete duplication of the eyebrows.'),('HP:0010731','Extension of eyebrows towards upper eyelid','The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.'),('HP:0010732','Nodular changes affecting the eyelids','Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.'),('HP:0010733','Naevus flammeus of the eyelid','Naevus flammeus localised in the skin of the eyelid.'),('HP:0010734','Fibrous dysplasia of the bones','Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).'),('HP:0010735','Polyostotic fibrous dysplasia','Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.'),('HP:0010736','Monostotic fibrous dysplasia','Fibrous dysplasia of the bones were lesions are localized in only one bone.'),('HP:0010739','Osteopoikilosis','Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.'),('HP:0010740','Osteopathia striata','A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.'),('HP:0010741','Pedal edema','An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.'),('HP:0010742','Edema of the upper limbs','An abnormal accumulation of fluid beneath the skin of the arms.'),('HP:0010743','Short metatarsal','Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.'),('HP:0010744','Absent metatarsal bone','A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.'),('HP:0010745','Aplasia of the phalanges of the toes','Absence of a digit or of one or more phalanges of a toe.'),('HP:0010746','Hypoplasia of the phalanges of the toes',''),('HP:0010747','Medial flaring of the eyebrow','An abnormal distribution of eyebrow hair growth in the medial direction.'),('HP:0010748','Ectopic lacrimal punctum','Positioning of a lacrimal punctum other than at the medial margins of the eyelid.'),('HP:0010749','Blepharochalasis','Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.'),('HP:0010750','Dermatochalasis','Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.'),('HP:0010751','Dimple chin','A persistent midline depression of the skin over the fat pad of the chin.'),('HP:0010752','Cleft mandible','Midline deficiency of the mandible and some or all overlying tissues.'),('HP:0010753','Midline defect of mandible',''),('HP:0010754','Abnormality of the temporomandibular joint','An anomaly of the temporomandibular joint.'),('HP:0010755','Asymmetry of the maxilla','Asymmetry between the left and right sides of the maxilla.'),('HP:0010756','Aplasia/Hypoplasia of the premaxilla','Absence or underdevelopment of the premaxilla.'),('HP:0010757','Aplasia of the premaxilla','Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.'),('HP:0010758','Abnormality of the premaxilla','An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.'),('HP:0010759','Prominence of the premaxilla','Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.'),('HP:0010760','Absent toe','Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.'),('HP:0010761','Broad columella','Increased width of the columella.'),('HP:0010762','Chordoma','A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.'),('HP:0010763','Low insertion of columella','Insertion of the posterior columella below the nasal base.'),('HP:0010764','Short eyelashes','Decreased length of the eyelashes (subjective).'),('HP:0010765','Palmar hyperkeratosis','Hyperkeratosis affecting the palm of the hand.'),('HP:0010766','Ectopic calcification','Deposition of calcium salts in a tissue or location in which calcification does not normally occur.'),('HP:0010767','Sacrococcygeal pilonidal abnormality','The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.'),('HP:0010769','Pilonidal sinus','A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.'),('HP:0010770','Pilonidal fistula',''),('HP:0010771','Pilonidal abscess','A hair-containing cyst or sinus usually in the coccygeal region.'),('HP:0010772','Anomalous pulmonary venous return','A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.'),('HP:0010773','Partial anomalous pulmonary venous return','A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.'),('HP:0010774','Cor triatriatum','The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).'),('HP:0010775','Vascular ring','A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.'),('HP:0010776','Tracheobronchmegaly','Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.'),('HP:0010777','Bronchomegaly','Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.'),('HP:0010778','Tracheomegaly','Marked widening of the trachea.'),('HP:0010779','Large pelvis bone','The presence of an abnormally large pelvis.'),('HP:0010780','Hyperacusis','Over-sensitivity to certain frequency ranges of sound.'),('HP:0010781','Skin dimple','Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.'),('HP:0010782','Shoulder dimple','A subtype of skin dimples occurring in the shoulder region.'),('HP:0010783','Erythema','Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0010784','Uterine neoplasm','A tumor (abnormal growth of tissue) of the uterus.'),('HP:0010785','Gonadal neoplasm','A tumor (abnormal growth of tissue) of a gonad.'),('HP:0010786','Urinary tract neoplasm','The presence of a neoplasm of the urinary system.'),('HP:0010787','Genital neoplasm','A tumor (abnormal growth of tissue) of the genital system.'),('HP:0010788','Testicular neoplasm','The presence of a neoplasm of the testis.'),('HP:0010789','Abnormality of the Leydig cells',''),('HP:0010790','Hyoplasia of the Leydig cells','Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.'),('HP:0010791','Hyperplasia of the Leydig cells','Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.'),('HP:0010793','Bifid nail','A digit with two nails, with at least some soft tissue between them.'),('HP:0010794','Impaired visuospatial constructive cognition','Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person`s strengths and weaknesses across a range of intellectual abilities).'),('HP:0010795','Cerebellar glioma','A glioma affecting the cerebellum.'),('HP:0010796','Brainstem glioma','A glioma affecting the brainstem.'),('HP:0010797','Hemangioblastoma','A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.'),('HP:0010798','Lip freckle','Increased focal pigmentation of the vermilion of the lips.'),('HP:0010799','Pinealoma','A neoplasm of the pineal gland.'),('HP:0010800','Absent cupid`s bow','Lack of paramedian peaks and median notch of the upper lip vermilion.'),('HP:0010801','Underdeveloped nasolabial fold','Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).'),('HP:0010802','Perioral hyperpigmentation','Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.'),('HP:0010803','Everted upper lip vermilion','Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.'),('HP:0010804','Tented upper lip vermilion','Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.'),('HP:0010805','Upturned corners of mouth','Oral commissures positioned superior to the midline labial fissure.'),('HP:0010806','U-Shaped upper lip vermilion','Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.'),('HP:0010807','Open bite','Visible space between the dental arches in occlusion.'),('HP:0010808','Protruding tongue','Tongue extending beyond the alveolar ridges or teeth at rest.'),('HP:0010809','Broad uvula','Increased width of the uvula (subjective finding).'),('HP:0010810','Long uvula','Increased length of the uvula.'),('HP:0010811','Narrow uvula','Decreased width of the uvula.'),('HP:0010812','Short uvula','Decreased length of the uvula.'),('HP:0010813','Abnormal number of hair whorls','More than two clockwise hair whorls.'),('HP:0010814','Abnormal position of hair whorl','Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.'),('HP:0010815','Nevus sebaceous','A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.'),('HP:0010816','Epidermal nevus','Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.'),('HP:0010817','Linear nevus sebaceous','A type of nevus sebaceous with a linear form, raised borders and yellowish color.'),('HP:0010818','Generalized tonic seizure','A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.'),('HP:0010819','Atonic seizure','Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.'),('HP:0010820','Focal emotional seizure with crying','Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.'),('HP:0010821','Focal emotional seizure with laughing','Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as `mirthless`.'),('HP:0010822','Scintillating scotoma','A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.'),('HP:0010823','Ridged cranial sutures','An overlap of the bony plates of the skull in an infant, with or without early closure.'),('HP:0010824','Abnormal fifth cranial nerve morphology','Any structural abormality of the fifth cranial nerve.'),('HP:0010825','Abnormality of the eleventh cranial nerve','Abnormality of the eleventh cranial nerve.'),('HP:0010826','Abnormality of the twelfth cranial nerve','Abnormality of the twelfth cranial nerve.'),('HP:0010827','Abnormality of the seventh cranial nerve','Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.'),('HP:0010828','Hemifacial spasm','Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.'),('HP:0010829','Impaired temperature sensation','A reduced ability to discriminate between different temperatures.'),('HP:0010830','Impaired tactile sensation','A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel`s hair brush, by asking patients to say `now` each time they feel the stimulus.'),('HP:0010831','Impaired proprioception','A loss or impairment of the sensation of the relative position of parts of the body and joint position.'),('HP:0010832','Abnormality of pain sensation','Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.'),('HP:0010833','Spontaneous pain sensation','Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.'),('HP:0010834','Trophic changes related to pain','Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.'),('HP:0010835','Dissociated sensory loss','A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.'),('HP:0010836','Abnormal circulating copper concentration','An abnormal concentration of copper.'),('HP:0010837','Decreased serum ceruloplasmin','Decreased concentration of ceruloplasmin in the blood.'),('HP:0010838','High nonceruloplasmin-bound serum copper','An increased concentration of non ceruloplasmin bound copper in the blood.'),('HP:0010839','Increased urinary copper concentration','An increased concentration of copper in the urine.'),('HP:0010841','Multifocal epileptiform discharges','An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).'),('HP:0010843','EEG with focal slow activity','Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).'),('HP:0010844','EEG with multifocal slow activity','Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010845','EEG with generalized slow activity','Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010846','EEG with persistent abnormal rhythmic activity',''),('HP:0010847','EEG with spike-wave complexes (<2.5 Hz)','The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).'),('HP:0010848','EEG with spike-wave complexes (2.5-3.5 Hz)','The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).'),('HP:0010849','EEG with spike-wave complexes (>3.5 Hz)','The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).'),('HP:0010850','EEG with spike-wave complexes','Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010851','EEG with burst suppression','The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.'),('HP:0010852','EEG with photoparoxysmal response','EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.'),('HP:0010853','EEG with periodic lateralized epileptiform discharges','Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).'),('HP:0010854','EEG with generalized low amplitude activity','An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010855','EEG with localized low amplitude activity','An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010856','EEG with periodic complexes','Periodically occurring generalized periodic complexes.'),('HP:0010857','EEG with periodic abnormalities','Periodically recurring abnormalities in the EEG.'),('HP:0010858','EEG with hyperventilation-induced epileptiform discharges','Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0010859','Frank breech presentation','A kind of breech presentation in which the hips are flexed and the knees are extended.'),('HP:0010860','Complete breech presentation','A kind of breech presentation in which the hips are flexed and the knees are flexed.'),('HP:0010861','Incomplete breech presentation','A kind of breech presentation in which one or both hips are extended and one or both of the fetus` feet are pointing down and entering the birth canal.'),('HP:0010862','Delayed fine motor development','A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.'),('HP:0010863','Receptive language delay','A delay in the acquisition of the ability to understand the speech of others.'),('HP:0010864','Intellectual disability, severe','Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.'),('HP:0010865','Oppositional defiant disorder','An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child`s developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.'),('HP:0010866','Abdominal wall defect','An incomplete closure of the abdominal wall.'),('HP:0010867','Dyssynergia','A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.'),('HP:0010868','Ocular dyssynergia','A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.'),('HP:0010869','Asynergia','A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.'),('HP:0010871','Sensory ataxia','Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.'),('HP:0010872','T-wave inversion','An inversion of the T-wave (which is normally positive).'),('HP:0010873','Cervical spinal cord atrophy','Atrophy of the cervical segment of the spinal cord.'),('HP:0010874','Tendon xanthomatosis','The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).'),('HP:0010875','Chaddock reflex','A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.'),('HP:0010876','Abnormal circulating protein level','An abnormal level of a circulating protein in the blood.'),('HP:0010877','Monocular strabismus','A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes `squints` at different times.'),('HP:0010878','Fetal cystic hygroma','The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.'),('HP:0010879','Postnatal cystic hygroma',''),('HP:0010880','Increased nuchal translucency','The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).'),('HP:0010881','Abnormality of the umbilical cord','An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.'),('HP:0010882','Pulmonary valve atresia','A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.'),('HP:0010883','Aortic valve atresia','A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.'),('HP:0010884','Acromelia','Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.'),('HP:0010885','Avascular necrosis','A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.'),('HP:0010886','Osteochondritis Dissecans','A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.'),('HP:0010888','Morbus Koehler','Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.'),('HP:0010889','Morbus Kienboeck','Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.'),('HP:0010890','Morbus Osgood-Schlatter','Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.'),('HP:0010891','Morbus Scheuermann','A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl`s nodes as seen on x-rays).'),('HP:0010892','Abnormal circulating branched chain amino acid concentration','Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.'),('HP:0010893','Abnormal circulating phenylalanine concentration','Any deviation from the normal concentration of phenylalanine in the blood circulation.'),('HP:0010894','Abnormal circulating serine family amino acid concentration','Any deviation from the normal concentration of a serine family amino acid in the blood circulation.'),('HP:0010895','Abnormal circulating glycine concentration','Any deviation from the normal concentration of glycine in the blood circulation.'),('HP:0010896','Hypersarcosinemia','An elevated plasma concentration of sarcosine.'),('HP:0010897','Hypersarcosinuria','An elevated urinary concentration of sarcosine.'),('HP:0010898','Abnormal circulating sarcosine concentration','An deviation from the normal concentration of sarcosine in the blood circulation.'),('HP:0010899','Abnormal circulating aspartate family amino acid concentration','Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.'),('HP:0010900','Abnormal circulating threonine concentration','Any deviation from the normal concentration of threonine in the blood circulation.'),('HP:0010901','Abnormal circulating methionine concentration','Any deviation from the normal concentration of methionine in the blood circulation.'),('HP:0010902','Abnormal circulating glutamine family amino acid concentration','Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.'),('HP:0010903','Abnormal circulating glutamine concentration','Any deviation from the normal concentration of glutamine in the blood circulation.'),('HP:0010904','Abnormal circulating histidine concentration','An abnormality of a histidine metabolic process.'),('HP:0010905','obsolete Abnormality of histidine metabolism',''),('HP:0010906','Hyperhistidinemia','An increased concentration of histidine in the blood.'),('HP:0010907','Abnormal circulating proline concentration','Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.'),('HP:0010908','Abnormal circulating lysine concentration','Any deviation from the normal concentration of lysine in the blood circulation.'),('HP:0010909','Abnormal circulating arginine concentration','Any deviation from the normal concentration of arginine in the blood circulation.'),('HP:0010910','Hypervalinemia','An increased concentration of valine in the blood.'),('HP:0010911','Hyperleucinemia','An increased concentration of leucine in the blood.'),('HP:0010912','Abnormal circulating isoleucine concentration','Any deviation from the normal concentration of isoleucine in the blood circulation.'),('HP:0010913','Hyperisoleucinemia','An increased concentration of isoleucine in the blood.'),('HP:0010914','Abnormal circulating valine concentration','Any deviation from the normal circulation of valine in the blood circulation.'),('HP:0010915','Abnormal circulating pyruvate family amino acid concentration','An abnormality of a pyruvate family amino acid metabolic process.'),('HP:0010916','Abnormal circulating alanine concentration','An abnormality of an alanine metabolic process.'),('HP:0010917','Abnormal circulating tyrosine concentration','Any deviation from the normal concentration of tyrosine in the blood circulation.'),('HP:0010918','Abnormal circulating cysteine concentration','An abnormality of a cysteine metabolic process.'),('HP:0010919','Abnormal circulating homocysteine concentration','An abnormality of a homocysteine metabolic process.'),('HP:0010920','Zonular cataract','Zonular cataracts are defined to be cataracts that affect specific regions of the lens.'),('HP:0010921','Coralliform cataract','A `coral-like` pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.'),('HP:0010922','Membranous cataract','A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.'),('HP:0010923','Anterior subcapsular cataract','A type of cataract affecting the anterior pole of lens immediately adjacent to (`beneath`) the lens capsule.'),('HP:0010924','Posterior cortical cataract','A cataract that affects the posterior part of the cortex of the lens.'),('HP:0010925','Nuclear punctate cataract',''),('HP:0010926','Aculeiform cataract','A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.'),('HP:0010927','Abnormal blood inorganic cation concentration','An abnormality of divalent inorganic cation homeostasis.'),('HP:0010928','obsolete Increased urinary orotic acid concentration',''),('HP:0010929','Abnormal blood cation concentration','An abnormality of cation homeostasis.'),('HP:0010930','Abnormal blood monovalent inorganic cation concentration','An abnormality of monovalent inorganic cation homeostasis.'),('HP:0010931','Abnormal blood sodium concentration','An abnormal concentration of sodium.'),('HP:0010932','Abnormal circulating nucleobase concentration','An abnormality of a nucleobase metabolic process.'),('HP:0010933','Hyperxanthinemia','An increased level of xanthine in the blood circulation.'),('HP:0010934','Xanthinuria','An increased concentration of xanthine in the urine.'),('HP:0010935','Abnormality of the upper urinary tract','An abnormality of the upper urinary tract.'),('HP:0010936','Abnormality of the lower urinary tract','An abnormality of the lower urinary tract.'),('HP:0010937','Abnormality of the nasal skeleton','An abnormality of the nasal skeleton.'),('HP:0010938','Abnormality of the external nose','An abnormality of the external nose.'),('HP:0010939','Abnormality of the nasal bone','An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.'),('HP:0010940','Aplasia/Hypoplasia of the nasal bone','Absence or underdevelopment of the nasal bone.'),('HP:0010941','Aplasia of the nasal bone','Absence of the nasal bone.'),('HP:0010942','Echogenic intracardiac focus','A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.'),('HP:0010943','Echogenic fetal bowel','Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.'),('HP:0010944','Abnormal renal pelvis morphology','An abnormality of the renal pelvis.'),('HP:0010945','Fetal pyelectasis','Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.'),('HP:0010946','Dilatation of the renal pelvis','The presence of dilatation of the renal pelvis.'),('HP:0010947','Abnormality of ductus venosus blood flow','A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.'),('HP:0010948','Abnormality of the fetal cardiovascular system','An abnormality of the fetal circulation system or fetal echocardiogram.'),('HP:0010949','Abnormality of umbilical vein blood flow','A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.'),('HP:0010950','Abnormality of the fourth ventricle','An abnormality of the fourth ventricle.'),('HP:0010951','Abnormality of the third ventricle','An abnormality of the third ventricle.'),('HP:0010952','Mild fetal ventriculomegaly','A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).'),('HP:0010953','Noncommunicating hydrocephalus','A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.'),('HP:0010954','Hypoplastic right heart','Underdevelopment of the right-sided structures of the heart.'),('HP:0010955','Dilatation of the bladder','The presence of a dilated urinary bladder.'),('HP:0010956','Fetal megacystis','Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.'),('HP:0010957','Congenital posterior urethral valve','A developmental defect resulting in an obstructing membrane in the posterior male urethra.'),('HP:0010958','Bilateral renal agenesis','A bilateral form of agenesis of the kidney.'),('HP:0010959','Congenital cystic adenomatoid malformation of the lung','Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis.'),('HP:0010960','Bronchopulmonary sequestration','The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.'),('HP:0010961','Intralobar sequestration','A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.'),('HP:0010962','Extralobar sequestration','A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.'),('HP:0010963','Absence of stomach bubble on fetal sonography','By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks` gestation.'),('HP:0010964','Abnormal circulating long-chain fatty-acid concentration','Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.'),('HP:0010965','Abnormal circulating phytanic acid level','Any deviation from the normal concentration of phytanic acid in the blood circulation.'),('HP:0010966','Abnormal circulating fatty-acid anion concentration','Any deviation from the normal concentration of a fatty acid anion in the blood circulation.'),('HP:0010967','Abnormal circulating carnitine concentration','Any deviation from the normal concentration of carnitine in the blood circulation.'),('HP:0010968','Abnormality of liposaccharide metabolism','An abnormality of liposaccharide metabolism.'),('HP:0010969','Abnormality of glycolipid metabolism','An abnormality of glycolipid metabolism.'),('HP:0010970','Blood group antigen abnormality','An abnormality of an erythrocyte cell surface molecule.'),('HP:0010971','Absence of Lutheran antigen on erythrocytes','Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.'),('HP:0010972','Anemia of inadequate production','A kind of anemia characterized by inadequate production of erythrocytes.'),('HP:0010974','Abnormal myeloid leukocyte morphology','An abnormality of myeloid leukocytes.'),('HP:0010975','Abnormal B cell count','A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.'),('HP:0010976','B lymphocytopenia','An abnormal decrease from the normal count of B cells.'),('HP:0010977','Abnormal phagocytosis','An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.'),('HP:0010978','Abnormality of immune system physiology','A functional abnormality of the immune system.'),('HP:0010979','Abnormality of lipoprotein cholesterol concentration','An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.'),('HP:0010980','Hyperlipoproteinemia','An abnormal increase in the level of lipoprotein cholesterol in the blood.'),('HP:0010981','Hypolipoproteinemia','An abnormal decrease in the level of lipoprotein cholesterol in the blood.'),('HP:0010982','Polygenic inheritance','A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.'),('HP:0010983','Oligogenic inheritance','A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.'),('HP:0010984','Digenic inheritance','A type of multifactorial inheritance governed by the simultaneous action of two gene loci.'),('HP:0010985','Gonosomal inheritance','A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.'),('HP:0010987','Abnormal cellular immune system morphology','An abnormality of the morphology or counts of the cells that make up the immune system.'),('HP:0010988','Abnormality of the extrinsic pathway','An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.'),('HP:0010989','Abnormality of the intrinsic pathway','An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.'),('HP:0010990','Abnormality of the common coagulation pathway','An abnormality of blood coagulation, common pathway.'),('HP:0010991','Abnormal morphology of the abdominal musculature','An abnormality of the abdominal musculature.'),('HP:0010992','Stress urinary incontinence','Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.'),('HP:0010993','Abnormality of the cerebral subcortex','An abnormality of the cerebral subcortex.'),('HP:0010994','Abnormal corpus striatum morphology','Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.'),('HP:0010995','Abnormal circulating dicarboxylic acid concentration','Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.'),('HP:0010996','Abnormal circulating monocarboxylic acid cocentration','Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.'),('HP:0010997','Chromosomal breakage induced by ionizing radiation','Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.'),('HP:0010998','Increased susceptibility to spontaneous sister chromatid exchange','An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.'),('HP:0010999','Aplasia of the optic tract',''),('HP:0011000','Aplasia/Hypoplasia of the optic tract',''),('HP:0011001','Increased bone mineral density','An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.'),('HP:0011002','Osteopetrosis','Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.'),('HP:0011003','High myopia','A severe form of myopia with greater than -6.00 diopters.'),('HP:0011004','Abnormal systemic arterial morphology','An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.'),('HP:0011005','Mixed cirrhosis','A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.'),('HP:0011006','Abnormal morphology of the musculature of the neck','An abnormality of the neck musculature.'),('HP:0011008','Temporal pattern','The speed at which disease manifestations appear and develop.'),('HP:0011009','Acute','Sudden appearance of disease manifestations over a short period of time.'),('HP:0011010','Chronic','Slow, creeping onset, slow progress and long continuance of disease manifestations.'),('HP:0011011','Subacute','Somewhat rapid onset and change of disease manifestations.'),('HP:0011012','Abnormal circulating polysaccharide concentration','A deviation from the normal concentration of a polysaccharide in the blood circulation.'),('HP:0011013','Abnormal circulating carbohydrate concentration','A deviation from the normal concentration of a carbohydrate in the blood circulation.'),('HP:0011014','Abnormal glucose homeostasis','Abnormality of glucose homeostasis.'),('HP:0011015','Abnormal blood glucose concentration','An abnormality of the concentration of glucose in the blood.'),('HP:0011016','Abnormality of urine glucose concentration','An abnormality of the concentration of glucose in the urine.'),('HP:0011017','Abnormal cellular physiology','An abnormality in a cellular process.'),('HP:0011018','Abnormality of the cell cycle','An abnormality of the cell cycle.'),('HP:0011019','Abnormality of chromosome condensation','An abnormality of chromosome condensation.'),('HP:0011020','Abnormality of mucopolysaccharide metabolism','An abnormality of the metabolism of mucopolysaccharide.'),('HP:0011021','Abnormality of circulating enzyme level',''),('HP:0011022','Abnormal circulating unsaturated fatty acid concentration','A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.'),('HP:0011023','Abnormal circulating prostaglandin circulation','Any deviation from the normal concentration of a prostaglandin in the blood circulation.'),('HP:0011024','Abnormality of the gastrointestinal tract','An abnormality of the gastrointestinal tract.'),('HP:0011025','Abnormal cardiovascular system physiology','Abnormal functionality of the cardiovascular system.'),('HP:0011026','Aplasia/Hypoplasia of the vagina','Aplasia or developmental hypoplasia of the vagina.'),('HP:0011027','Abnormal fallopian tube morphology','An abnormality of the fallopian tube.'),('HP:0011028','Abnormality of blood circulation','An abnormality of blood circulation.'),('HP:0011029','Internal hemorrhage','The presence of hemorrhage within the body.'),('HP:0011030','Abnormal blood transition element cation concentration','An abnormality of the homeostasis (concentration) of transition element cation.'),('HP:0011031','Abnormality of iron homeostasis','An abnormality of the homeostasis (concentration) of iron cation.'),('HP:0011032','Abnormality of fluid regulation','An abnormality of the regulation of body fluids.'),('HP:0011033','Impairment of fructose metabolism','An impairment of a fructose metabolic process.'),('HP:0011034','Amyloidosis','The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.'),('HP:0011035','Abnormal renal cortex morphology','An abnormality of the cortex of the kidney.'),('HP:0011036','Abnormality of renal excretion','An altered ability of the kidneys to void urine and/or specific substances.'),('HP:0011037','Decreased urine output','A decreased rate of urine production.'),('HP:0011038','Abnormality of renal resorption','An abnormality of renal absorption.'),('HP:0011039','Abnormality of the helix','An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.'),('HP:0011040','Abnormality of the intrahepatic bile duct','An abnormality of the intrahepatic bile duct.'),('HP:0011041','Aplasia/Hypoplasia of the cervical spine','Aplasia or developmental hypoplasia of the cervical vertebral column.'),('HP:0011042','Abnormal blood potassium concentration','An abnormal concentration of potassium.'),('HP:0011043','Abnormality of circulating adrenocorticotropin level','An abnormal concentration of corticotropin in the blood.'),('HP:0011044','Abnormal number of permanent teeth','The presence of an altered number of of permanent teeth.'),('HP:0011045','Agenesis of permanent maxillary central incisor','Agenesis of upper secondary incisor.'),('HP:0011046','Agenesis of primary maxillary central incisor','Agenesis of upper central primary incisor.'),('HP:0011047','Agenesis of primary mandibular central incisor','Agenesis of lower primary incisor.'),('HP:0011048','Agenesis of permanent mandibular central incisor','Agenesis of lower secondary incisor.'),('HP:0011049','Agenesis of primary maxillary lateral incisor','Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.'),('HP:0011050','Agenesis of permanent maxillary lateral incisor','Agenesis of one or more upper lateral secondary incisor.'),('HP:0011051','Agenesis of premolar','Agenesis of premolar tooth.'),('HP:0011052','Agenesis of maxillary premolar','Agenesis of maxillary premolar.'),('HP:0011053','Agenesis of mandibular premolar','Agenesis of mandibular premolar.'),('HP:0011054','Agenesis of molar','Agenesis of molar tooth.'),('HP:0011055','Agenesis of permanent molar','Agenesis of secondary molar tooth.'),('HP:0011056','Agenesis of first permanent molar tooth','Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.'),('HP:0011057','Agenesis of second permanent molar','Agenesis of either mandibular second permanent molar or maxillary second permanent molar.'),('HP:0011058','Generalized periodontitis','A generalized form of periodontitis.'),('HP:0011059','Localized periodontitis','A localized form of periodontitis.'),('HP:0011060','Dentinogenesis imperfecta limited to primary teeth','Developmental dysplasia of dentin affecting only the primary dentition.'),('HP:0011061','Abnormality of dental structure','An abnormality of the structure or composition of the teeth.'),('HP:0011062','Misalignment of incisors','Misaligned incisor.'),('HP:0011063','Abnormality of incisor morphology','An abnormality of morphology of the incisor tooth.'),('HP:0011064','Abnormal number of incisors','The presence of an altered number of the incisor teeth.'),('HP:0011065','Conical incisor','An abnormal conical morphology of the incisor tooth.'),('HP:0011067','Mesiodens','The presence of a supernumerary tooth in the midline between the maxillary central incisors.'),('HP:0011068','Odontoma','The presence of an odontoma.'),('HP:0011069','Increased number of teeth','The presence of a supernumerary, i.e., extra, tooth or teeth.'),('HP:0011070','Abnormality of molar morphology','An abnormality of morphology of molar tooth.'),('HP:0011071','Abnormality of permanent molar morphology','An abnormality of morphology of permanent molar.'),('HP:0011072','Rootless teeth',''),('HP:0011073','Abnormality of dental color','A developmental defect of tooth color.'),('HP:0011074','Localized hypoplasia of dental enamel','A localized form of developmental hypoplasia of the dental enamel.'),('HP:0011075','Green teeth','A green staining of teeth.'),('HP:0011076','Abnormality of premolar','An abnormality of premolar tooth.'),('HP:0011077','Abnormality of molar','An abnormality of molar tooth.'),('HP:0011078','Abnormality of canine','An abnormality of canine tooth.'),('HP:0011079','Impacted tooth','A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).'),('HP:0011080','Abnormality of premolar morphology','An abnormality of morphology of premolar tooth.'),('HP:0011081','Incisor macrodontia','Increased size of the incisor tooth.'),('HP:0011082','Conical primary incisor','An abnormal conical morphology of the primary incisor.'),('HP:0011083','Conical maxillary incisor','An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.'),('HP:0011084','Hypocalcification of dental enamel','A form of hypomineralization of enamel characterized by reduced calcification.'),('HP:0011085','Hypomature dental enamel','A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.'),('HP:0011086','Dentinogenesis imperfecta of primary and permanent teeth','Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.'),('HP:0011087','Talon cusp','Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).'),('HP:0011088','Dens in dente','An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.'),('HP:0011089','Double tooth','A dental anomaly characterized by the presence of a two fused teeth.'),('HP:0011090','Fused teeth','The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.'),('HP:0011091','Gemination','The development of two teeth from a single tooth bud, leading to a larger fused tooth.'),('HP:0011092','Mulberry molar','Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.'),('HP:0011093','Molarization of premolar','Increased size and molar morphology of premolar tooth.'),('HP:0011094','Overbite','Maxillary teeth cover the mandibular teeth when biting to an increased degree.'),('HP:0011095','Overjet','An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.'),('HP:0011096','Peripheral demyelination','A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.'),('HP:0011097','Epileptic spasm','A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages'),('HP:0011098','Speech apraxia','A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.'),('HP:0011099','Spastic hemiparesis','Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.'),('HP:0011100','Intestinal atresia','An abnormal closure, or atresia of the tubular structure of the intestine.'),('HP:0011102','Ileal atresia','An abnormal closure, or atresia of the tubular structure of the ileum.'),('HP:0011103','Abnormal left ventricular outflow tract morphology','An abnormality of the outflow tract of the left ventricle.'),('HP:0011104','Abnormality of blood volume homeostasis','An abnormality in the amount of volume occupied by intravascular blood.'),('HP:0011105','Hypervolemia','An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.'),('HP:0011106','Hypovolemia','An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.'),('HP:0011107','Recurrent aphthous stomatitis','Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.'),('HP:0011108','Recurrent sinusitis','A recurrent form of sinusitis.'),('HP:0011109','Chronic sinusitis','A chronic form of sinusitis.'),('HP:0011110','Tonsillitis','An inflammation of the tonsils.'),('HP:0011111','Abnormality of immune serum protein physiology','An abnormality of the concentration or function of circulating immune proteins.'),('HP:0011112','Abnormality of serum cytokine level','Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.'),('HP:0011113','Abnormality of cytokine secretion','An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).'),('HP:0011114','Defective production of NFKB1-dependent cytokines','An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.'),('HP:0011115','Abnormality of chemokine secretion','An abnormality in the production or cellular release of a chemokine (a class of cytokines).'),('HP:0011116','Abnormality of interferon secretion','An abnormality in the production or cellular release of interferons (a class of cytokines).'),('HP:0011117','Abnormality of interleukin secretion','An abnormality in the production or cellular release of interleukins (a class of cytokines).'),('HP:0011118','Abnormality of tumor necrosis factor secretion','An abnormality in the production or cellular release of tumor necrosis factor.'),('HP:0011119','Abnormality of the nasal dorsum','An abnormality of the nasal dorsum, also known as the nasal ridge.'),('HP:0011120','Concave nasal ridge','Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.'),('HP:0011121','Abnormality of skin morphology','Any morphological abnormality of the skin.'),('HP:0011122','Abnormality of skin physiology','Any abnormality of the physiological function of the skin.'),('HP:0011123','Inflammatory abnormality of the skin','The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.'),('HP:0011124','Abnormality of epidermal morphology','An abnormality of the morphology of the epidermis.'),('HP:0011125','Abnormality of dermal melanosomes','An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).'),('HP:0011126','Nephroptosis','A significant descent of the kidney as the patient moves from the supine to the erect position.'),('HP:0011127','Perioral eczema','A type of eczema that occurs in the lips and perioral area.'); +INSERT INTO `Symptom` VALUES ('HP:0011128','Acute esophageal necrosis','A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion (`black esophagus`) distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.'),('HP:0011129','Bilateral fetal pyelectasis','A bilateral form of fetal pyelectasis.'),('HP:0011130','Abnormal renal calyx morphology','Any abnormality of the morphology of the major calices or minor calices of the kidney.'),('HP:0011131','Perianal rash','The presence of a rash (change of color and texture) of the perianal skin.'),('HP:0011132','Chronic furunculosis','A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.'),('HP:0011133','Increased sensitivity to ionizing radiation','An abnormally increased sensitivity to the effects of ionizing radiation.'),('HP:0011134','Low-grade fever','Mild fever that does not exceed 38.5 degree centrigrade.'),('HP:0011135','Aplasia/Hypoplasia of the sweat glands','Absence or developmental hypoplasia of the sweat glands.'),('HP:0011136','Aplasia of the sweat glands','Absence of the sweat glands.'),('HP:0011137','Non-pruritic urticaria','Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.'),('HP:0011138','Abnormality of skin adnexa morphology','An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.'),('HP:0011139','Gastric duplication','Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.'),('HP:0011140','Gastrointestinal duplication','A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.'),('HP:0011141','Age-related cataract','A type of cataract (opacification of the lens) that forms during the course of aging.'),('HP:0011142','Age-related nuclear cataract','A type of age-related cataract that primarily affects the nucleus of the lens.'),('HP:0011143','Age-related cortical cataract','A type of age-related cataract that primarily affects the cortex of the lens.'),('HP:0011144','Age-related posterior subcapsular cataract','A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.'),('HP:0011145','Symptomatic seizures','A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.'),('HP:0011146','Dialeptic seizure','A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.'),('HP:0011147','Typical absence seizure','A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.'),('HP:0011148','obsolete Absence seizures with special features',''),('HP:0011149','Absence seizure with eyelid myoclonia','An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.'),('HP:0011150','Myoclonic absence seizure','Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.'),('HP:0011151','Atypical absence status epilepticus','Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.'),('HP:0011152','Early onset absence seizures','Typical absence seizures starting before the age of 4 years.'),('HP:0011153','Focal motor seizure','A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.'),('HP:0011154','Focal autonomic seizure','An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.'),('HP:0011155','obsolete Focal autonomic seizures with altered responsiveness',''),('HP:0011156','obsolete Focal autonomic seizures without altered responsiveness',''),('HP:0011157','Focal sensory seizure','A focal sensory seizure is a type seizure beginning with a subjective sensation.'),('HP:0011158','Focal sensory seizure with auditory features','A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.'),('HP:0011159','Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena','A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.'),('HP:0011160','Focal sensory seizure with gustatory features','A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.'),('HP:0011161','Focal sensory seizure with olfactory features','Seizures characterized by olfactory phenomena as its first clinical manifestation.'),('HP:0011162','Psychic auras','Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.'),('HP:0011163','Focal sensory seizure with somatosensory features','A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.'),('HP:0011164','Vegetative auras','A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions.'),('HP:0011165','Focal sensory seizure with visual features','A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.'),('HP:0011166','Focal myoclonic seizure','A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.'),('HP:0011167','Focal tonic seizure','A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.'),('HP:0011168','Eyelid myoclonias','Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.'),('HP:0011169','Generalized clonic seizure','Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.'),('HP:0011170','Generalized myoclonic-atonic seizure','A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.'),('HP:0011171','Simple febrile seizure','A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.'),('HP:0011172','Complex febrile seizure','A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd`s paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.'),('HP:0011173','Focal behavior arrest seizure','A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.'),('HP:0011174','Focal hyperkinetic seizure','A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.'),('HP:0011175','Focal motor seizure with version','A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.'),('HP:0011176','EEG with constitutional variants','An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.'),('HP:0011177','EEG with 4-5/second background activity','EEG background activity at 4-5/second.'),('HP:0011178','Alpha-EEG','EEG dominated by diffuse alpha-waves (8-13Hz).'),('HP:0011179','Beta-EEG','EEG dominated by diffuse beta-waves (>13 Hz).'),('HP:0011180','Partial beta-EEG','EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).'),('HP:0011181','Low voltage EEG','EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).'),('HP:0011182','Interictal epileptiform activity','Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.'),('HP:0011183','EEG with hyperventilation-induced focal epileptiform discharges','Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0011184','EEG with hyperventilation-induced generalized epileptiform discharges','Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0011185','EEG with focal epileptiform discharges','EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).'),('HP:0011186','Focal epileptiform discharges with limited propagation to contralateral hemisphere','Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.'),('HP:0011187','Focal EEG discharges with propagation to ipsilateral hemisphere','Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.'),('HP:0011188','Focal EEG discharges with secondary generalization','Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.'),('HP:0011189','Bilateral multifocal epileptiform discharges','Epileptiform discharges being identified at multiple locations in both hemispheres.'),('HP:0011190','Uni- and bilateral multifocal epileptiform discharges','Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.'),('HP:0011191','Unilateral multifocal epileptiform discharges','Epileptiform discharges being identified at multiple locations in one hemisphere.'),('HP:0011192','Polymorphic focal epileptiform discharges','Focal epileptiform discharges of different shapes and frequencies.'),('HP:0011193','EEG with focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec.'),('HP:0011194','EEG with series of focal spikes','Focal spikes occurring for several seconds.'),('HP:0011195','EEG with focal sharp slow waves','EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011196','EEG with focal sharp waves','EEG with focal sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011197','EEG with focal spike waves','EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.'),('HP:0011198','EEG with generalized epileptiform discharges','EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.'),('HP:0011199','EEG with generalized sharp slow waves','EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011200','EEG with generalized polymorphic epileptiform discharges','Generalized epileptiform discharges of different shapes and frequencies.'),('HP:0011201','EEG with changes in voltage','EEG with abnormal amplitude.'),('HP:0011202','EEG with diffuse acceleration','EEG frequency is abnormally increased.'),('HP:0011203','EEG with abnormally slow frequencies','EEG with abnormally slow frequencies.'),('HP:0011204','EEG with continuous slow activity','EEG showing diffuse slowing without interruption.'),('HP:0011205','EEG with intermittent slow activity','Non-continuous diffuse slowing of electroencephalographic patterns.'),('HP:0011206','EEG with generalized slow activity grade 1','Slowing at frequencies between 7.5 and 8.5 Hz.'),('HP:0011207','EEG with generalized slow activity grade 2','Generalized slowing of EEG activity at frequencies between 4-7 Hz.'),('HP:0011208','EEG with generalized slow activity grade 3','Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.'),('HP:0011209','EEG with generalized slow activity grade 4','EEG without electrical activity.'),('HP:0011210','EEG with occipital slowing','Slowing in occipital areas of the scalp EEG.'),('HP:0011211','EEG with photoparoxysmal response grade I','Occurrence of epileptiform discharges in occipital regions during photic stimulation.'),('HP:0011212','EEG with photoparoxysmal response grade II','Occurence of epileptiform discharges in occipital and central regions during photic stimulation.'),('HP:0011213','EEG with photoparoxysmal response grade III','Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.'),('HP:0011214','EEG with photoparoxysmal response grade IV','Occurrence of generalized epileptiform discharges during photic stimulation.'),('HP:0011215','Hemihypsarrhythmia','Hypsarrhythmia occurring in one hemisphere.'),('HP:0011217','Abnormal shape of the occiput','An abnormal shape of occiput.'),('HP:0011218','Abnormal shape of the frontal region','An abnormal shape of the frontal part of the head.'),('HP:0011219','Short face','Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).'),('HP:0011220','Prominent forehead','Forward prominence of the entire forehead, due to protrusion of the frontal bone.'),('HP:0011221','Vertical forehead creases','Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.'),('HP:0011222','Depressed glabella','Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.'),('HP:0011223','Metopic depression','Linear vertical groove in the midline of the forehead, extending from hairline to glabella.'),('HP:0011224','Ablepharon','Absent eyelids.'),('HP:0011225','Epiblepharon','Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.'),('HP:0011226','Aplasia/Hypoplasia of the eyelid','Absence or underdevelopment of the eyelid.'),('HP:0011227','Elevated C-reactive protein level','An abnormal elevation of the C-reactive protein level in serum.'),('HP:0011228','Horizontal eyebrow','An eyebrow that extends straight across the brow, without curve.'),('HP:0011229','Broad eyebrow','Regional increase in the width (height) of the eyebrow.'),('HP:0011230','Laterally extended eyebrow','An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.'),('HP:0011231','Prominent eyelashes','Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.'),('HP:0011232','Infra-orbital fold','Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.'),('HP:0011233','Antihelical shelf','Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.'),('HP:0011234','Absent antihelix','No discernible ridge between concha and triangular fossa and helix.'),('HP:0011235','Additional crus of antihelix','Supernumerary ridge or crus of the ear arising from the antihelix.'),('HP:0011236','Angulated antihelix','Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.'),('HP:0011237','Broad inferior crus of antihelix','Increased width of the inferred cross-section of the inferior crus.'),('HP:0011238','Prominent inferior crus of antihelix','Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.'),('HP:0011239','Underdeveloped inferior crus of antihelix','Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.'),('HP:0011240','Prominent stem of antihelix','Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.'),('HP:0011241','Serpiginous stem of antihelix','Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.'),('HP:0011242','Underdeveloped stem of antihelix','Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.'),('HP:0011243','Abnormality of inferior crus of antihelix','An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.'),('HP:0011244','Abnormality of stem of antihelix','An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.'),('HP:0011245','Abnormality of superior crus of antihelix','An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.'),('HP:0011246','Underdeveloped superior crus of antihelix','Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.'),('HP:0011247','Prominent superior crus of antihelix','Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.'),('HP:0011248','Everted antitragus','Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).'),('HP:0011249','Absent antitragus','Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.'),('HP:0011250','Bifid antitragus','Double rather than single peak of the antitragus.'),('HP:0011251','Underdeveloped antitragus','Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.'),('HP:0011252','Cryptotia','Invagination of the superior part of the auricle under a fold of temporal skin.'),('HP:0011253','Type I cryptotia','A type of cryptotia associated with reduction in size of the antihelix and superior crus.'),('HP:0011254','Type II cryptotia','A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.'),('HP:0011255','Absent crus of helix','Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.'),('HP:0011256','Crus of helix connected to antihelix','Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.'),('HP:0011257','Serpiginous crus of helix','Curving course of the crus of the helix, approaching or joining the antitragus.'),('HP:0011258','Tragal bridge of crus of helix','The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.'),('HP:0011259','Expanded terminal portion of crus of helix','Widening, rather than tapering, of the crus at its posterior border near the antihelix.'),('HP:0011260','Darwin notch of helix','Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.'),('HP:0011261','Darwin tubercle of helix','Small expansion of the helical fold at the junction of the superior and descending portions of the helix.'),('HP:0011262','Crimped helix','Linear, circumferential indentation in the convexity of the outer surface of the helix.'),('HP:0011263','Forward facing earlobe','Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.'),('HP:0011264','Discontinuous ascending root of helix','Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.'),('HP:0011265','Cleft earlobe','Discontinuity in the convexity of the inferior margin of the lobe.'),('HP:0011266','Microtia, first degree','Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.'),('HP:0011267','Microtia, third degree','Presence of some auricular structures, but none of these structures conform to recognized ear components.'),('HP:0011268','Absent tragus','Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.'),('HP:0011269','Bifid tragus','Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.'),('HP:0011270','Duplicated tragus','A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.'),('HP:0011271','Prominent tragus','Increase posterolateral protrusion of the tragus.'),('HP:0011272','Underdeveloped tragus','Decreased posterolateral protrusion of the tragus.'),('HP:0011273','Anisocytosis','Abnormally increased variability in the size of erythrocytes.'),('HP:0011274','Recurrent mycobacterial infections','Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.'),('HP:0011275','Recurrent mycobacterium avium complex infections','Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.'),('HP:0011276','Vascular skin abnormality',''),('HP:0011277','Abnormality of the urinary system physiology',''),('HP:0011278','Intrapulmonary sequestration','A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.'),('HP:0011279','Abnormality of urine bicarbonate concentration','An abnormality of the concentration of hydrogencarbonate in the urine.'),('HP:0011280','Abnormality of urine calcium concentration','An abnormality of calcium concentration in the urine.'),('HP:0011281','Abnormality of urine catecholamine concentration','An abnormal level of urinary catecholamine concentration.'),('HP:0011282','Abnormality of hindbrain morphology','An abnormality of the hindbrain, also known as the rhombencephalon.'),('HP:0011283','Abnormality of the metencephalon','An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.'),('HP:0011284','Short-segment aganglionic megacolon','A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.'),('HP:0011285','Long-segment aganglionic megacolon','A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.'),('HP:0011286','Total colonic aganglionosis','A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.'),('HP:0011287','EEG with occipital sharp slow waves','EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011288','EEG with parietal sharp slow waves','EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011289','EEG with temporal sharp slow waves','EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011290','EEG with frontal sharp slow waves','EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011291','EEG with central sharp slow waves','EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.'),('HP:0011292','EEG with occipital sharp waves','EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011293','EEG with central sharp waves','EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011294','EEG with frontal sharp waves','EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011295','EEG with parietal sharp waves','EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011296','EEG with temporal sharp waves','EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.'),('HP:0011297','Abnormal digit morphology','A morphological abnormality of a digit, i.e., of a finger or toe.'),('HP:0011298','Prominent digit pad','A soft tissue prominence of the ventral aspects of the fingertips or toe tips.'),('HP:0011299','Partial absence of finger','The absence of a phalangeal segment of a finger.'),('HP:0011300','Broad fingertip','Increased width of the distal segment of a finger.'),('HP:0011301','Absent foot','The total absence of the foot, with no bony elements distal to the tibia or fibula.'),('HP:0011302','Long palm','For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.'),('HP:0011303','Convex contour of sole','The contour of the foot in lateral profile has a convex shape.'),('HP:0011304','Broad thumb','Increased thumb width without increased dorso-ventral dimension.'),('HP:0011305','Partial absence of toe','The absence of a phalangeal segment of a toe or hallux.'),('HP:0011307','Splayed toes','Divergence of digits along the anteroposterior axis (in the plane of the sole).'),('HP:0011308','Slender toe','Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.'),('HP:0011309','Tapered toe','The gradual reduction in girth of the toe from proximal to distal.'),('HP:0011310','Bridged palmar crease','A crease that connects the proximal and distal transverse palmar creases.'),('HP:0011311','Sydney crease','Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.'),('HP:0011312','Fused nails','A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.'),('HP:0011313','Narrow nail','Decreased width of nail.'),('HP:0011314','Abnormality of long bone morphology','An abnormality of size or shape of the long bones.'),('HP:0011315','Unicoronal synostosis','Synostosis affecting only one of the coronal sutures.'),('HP:0011316','Left unicoronal synostosis','Synostosis affecting only the left coronal suture.'),('HP:0011317','Right unicoronal synostosis','Unicoronal synostosis affecting only the right coronal suture.'),('HP:0011318','Bicoronal synostosis','Synostosis affecting the right and the left coronal suture.'),('HP:0011319','Bilambdoid synostosis','Premature synostosis of both lambdoid sutures.'),('HP:0011320','Unilambdoid synostosis','Premature synostosis of only one lambdoid suture.'),('HP:0011321','Left unilambdoid synostosis','Premature synostosis of only the left lambdoid suture.'),('HP:0011322','Right unilambdoid synostosis','Premature synostosis of only the right lambdoid suture.'),('HP:0011323','Cleft of chin','Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.'),('HP:0011324','Multiple suture craniosynostosis','Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.'),('HP:0011325','Pansynostosis','Craniosynostosis of all calvarial sutures.'),('HP:0011326','Anterior plagiocephaly','Asymmetry of the anterior part of the skull.'),('HP:0011327','Posterior plagiocephaly','Asymmetry of the posterior part of the skull.'),('HP:0011328','Abnormality of fontanelles','An abnormality of the fontanelle.'),('HP:0011329','Abnormality of cranial sutures','Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.'),('HP:0011330','Metopic synostosis','Premature fusion of the metopic suture.'),('HP:0011331','Hemifacial atrophy','Unilateral atrophy of facial tissues, including muscles, bones and skin.'),('HP:0011332','Hemifacial hypoplasia','Unilateral underdevelopment of the facial tissues, including muscles and bones.'),('HP:0011333','Asymmetric crying face','Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.'),('HP:0011334','Facial shape deformation',''),('HP:0011335','Frontal hirsutism','Excessive amount of hair growth on forehead.'),('HP:0011336','Bitemporal forceps marks','Bilateral temporal scarlike defects, which are said to resemble forceps marks.'),('HP:0011337','Abnormality of mouth size',''),('HP:0011338','Abnormality of mouth shape','An abnormality of the outline, configuration, or contour of the mouth.'),('HP:0011339','Abnormality of upper lip vermillion','An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.'),('HP:0011340','Incomplete cleft of the upper lip','A subtle unilateral cleft of the upper lip, which may appear as a small indentation.'),('HP:0011341','Long upper lip','Increased width of the upper lip.'),('HP:0011342','Mild global developmental delay','A mild delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0011343','Moderate global developmental delay','A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0011344','Severe global developmental delay','A severe delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0011345','Moderate expressive language delay','A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0011346','Mild expressive language delay','A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.'),('HP:0011347','Abnormality of ocular abduction','An abnormality involving the movement of the eye outwards.'),('HP:0011348','Abnormality of the sixth cranial nerve','An abnormality of the abducens nerve.'),('HP:0011349','Abducens palsy','Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward.'),('HP:0011350','Mild receptive language delay','A mild delay in the acquisition of the ability to understand the speech of others.'),('HP:0011351','Moderate receptive language delay','A moderate delay in the acquisition of the ability to understand the speech of others.'),('HP:0011352','Severe receptive language delay','A severe delay in the acquisition of the ability to understand the speech of others.'),('HP:0011353','Arterial intimal fibrosis','Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.'),('HP:0011354','Generalized abnormality of skin','An abnormality of the skin that is not localized to any one particular region.'),('HP:0011355','Localized skin lesion','A lesion of the skin that is located in a specific region rather than being generalized.'),('HP:0011356','Regional abnormality of skin','An abnormality of the skin that is restricted to a particular body region.'),('HP:0011357','obsolete Abnormality of hair density',''),('HP:0011358','Generalized hypopigmentation of hair','Reduced pigmentation of hair diffusely.'),('HP:0011359','Dry hair','Hair that lacks the lustre (shine or gleam) of normal hair.'),('HP:0011360','Acquired abnormal hair pattern','An abnormality of the distribution of hair growth that is acquired during the course of life.'),('HP:0011361','Congenital abnormal hair pattern','A congenital abnormality of the distribution of hair growth.'),('HP:0011362','Abnormal hair quantity','An abnormal amount of hair.'),('HP:0011363','Abnormality of hair growth rate','Hair whose growth rate deviates from the norm.'),('HP:0011364','White hair','Hypopigmented hair that appears white.'),('HP:0011365','Patchy hypopigmentation of hair','Reduced pigmentation of hair in patches.'),('HP:0011367','Yellow nails','Yellowish discoloration of the nails.'),('HP:0011368','Epidermal thickening','Thickening of the epidermal layer of the skin.'),('HP:0011369','Mongolian blue spot','Congenital deep dermal melanosis in the sacral area.'),('HP:0011370','Recurrent cutaneous fungal infections','Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.'),('HP:0011371','Recurrent viral skin infections','Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.'),('HP:0011372','Aplasia of the inner ear','Absence of the inner ear due to a developmental defect.'),('HP:0011373','Incomplete partition of the cochlea','Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.'),('HP:0011374','Incomplete partition of the cochlea type I','Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.'),('HP:0011375','Cochlear aplasia','Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.'),('HP:0011376','Morphological abnormality of the vestibule of the inner ear','A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.'),('HP:0011377','Aplasia of the vestibule','Complete absence of the vestibule of the inner ear.'),('HP:0011378','Hypoplasia of the vestibule of the inner ear','Underdevelopment of the vestibule of the inner ear.'),('HP:0011379','Dilated vestibule of the inner ear','Dilatation of the vestibule of the inner ear.'),('HP:0011380','Morphological abnormality of the semicircular canal','An abnormality of the morphology of the semicircular canal.'),('HP:0011381','Aplasia of the semicircular canal','Absence of the semicircular canal.'),('HP:0011382','Hypoplasia of the semicircular canal','Underdevelopment of the semicircular canal.'),('HP:0011383','Enlarged semicircular canal','Increased size of the semicircular canal.'),('HP:0011384','Abnormality of the internal auditory canal','An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.'),('HP:0011385','Absent internal auditory canal','Aplasia of the internal auditory canal.'),('HP:0011386','Narrow internal auditory canal','Reduction in diameter of the internal auditory canal.'),('HP:0011387','Enlarged vestibular aqueduct','Increased size of the vestibular aqueduct.'),('HP:0011388','Enlarged cochlear aqueduct','Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.'),('HP:0011389','Functional abnormality of the inner ear','An abnormality of the function of the inner ear.'),('HP:0011390','Morphological abnormality of the inner ear','A structural anomaly of the internal part of the ear.'),('HP:0011391','Morphological abnormality of the nerves of the inner ear',''),('HP:0011392','Abnormality of the vestibular nerve',''),('HP:0011393','Aplasia of the vestibular nerve.','Absence of the vestibular nerve'),('HP:0011394','Hypoplasia of the vestibular nerve','Underdevelopment of the vestibular nerve.'),('HP:0011395','Aplasia/Hypoplasia of the cochlea','Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.'),('HP:0011396','Abnormality of the cochlear nerve',''),('HP:0011397','Abnormality of the dorsal column of the spinal cord','An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.'),('HP:0011398','Central hypotonia','Reduced muscle tone secondary to an abnormality of the central nervous system.'),('HP:0011399','Tibialis atrophy','Atrophy of the tibialis muscle.'),('HP:0011400','Abnormal CNS myelination','An abnormality of myelination of nerves in the central nervous system.'),('HP:0011401','Delayed peripheral myelination','Delayed myelination in the peripheral nervous system.'),('HP:0011402','Demyelinating sensory neuropathy','Demyelination of peripheral sensory nerves.'),('HP:0011403','Abnormal umbilical cord blood vessels',''),('HP:0011404','Lethal short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.'),('HP:0011405','Childhood onset short-limb short stature',''),('HP:0011406','Infancy onset short-trunk short stature','A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.'),('HP:0011407','Proportionate tall stature',''),('HP:0011408','Moderate intrauterine growth retardation','Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.'),('HP:0011409','Abnormality of placental membranes',''),('HP:0011410','Caesarian section','Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).'),('HP:0011411','Forceps delivery',''),('HP:0011412','Ventouse delivery','Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.'),('HP:0011413','Shoulder dystocia','Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.'),('HP:0011414','Hydropic placenta','An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.'),('HP:0011415','Calcified placenta',''),('HP:0011416','Placental infarction',''),('HP:0011417','Long umbilical cord','Increased length of the umbilical cord.'),('HP:0011418','Abnormal insertion of umbilical cord',''),('HP:0011419','Placental abruption','Separation of the placenta from the uterus wall before delivery.'),('HP:0011420','Age of death','The age group when the cessation of life happens.'),('HP:0011421','Death in adolescence','Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).'),('HP:0011422','Abnormal blood chloride concentration','An abnormality of chloride homeostasis or concentration in the body.'),('HP:0011423','Hyperchloremia','An abnormally increased chloride concentration in the blood.'),('HP:0011424','Increased serum zinc','An increased consentration of zinc in the blood.'),('HP:0011425','Fetal ultrasound soft marker','An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.'),('HP:0011426','Fetal choroid plexus cysts','Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).'),('HP:0011427','Enlarged fetal cisterna magna','The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).'),('HP:0011428','Short fetal femur length','A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).'),('HP:0011429','Short fetal humerus length','A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).'),('HP:0011430','Hypoplasia of fetal nasal bone','On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).'),('HP:0011431','Fetal fifth finger clinodactyly','Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).'),('HP:0011432','High maternal serum alpha-fetoprotein','An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.'),('HP:0011433','High maternal serum chorionic gonadotropin','An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.'),('HP:0011434','Low maternal serum chorionic gonadotropin','An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.'),('HP:0011435','Low maternal serum PAPP-A','An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.'),('HP:0011436','Abnormal maternal serum screening','An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.'),('HP:0011437','Maternal autoimmune disease','A medical history of a fetus or child born to a mother with an autoimmune disease.'),('HP:0011438','Maternal teratogenic exposure','A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.'),('HP:0011439','Anesthetic-induced rhabdomylosis','Rhabdomyolysis induced by anesthesia.'),('HP:0011440','Alcohol-induced rhabdomyolysis','Rhabdomyolysis induced by intake of alcohol.'),('HP:0011441','Abnormality of the medulla oblongata','An abnormality of the medulla oblongata, the lower half of the brainstem.'),('HP:0011442','Abnormal central motor function','An anomaly of the control or production of movement in the central nervous system.'),('HP:0011443','Abnormality of coordination',''),('HP:0011444','Decorticate rigidity','A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.'),('HP:0011445','Athetoid cerebral palsy','A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.'),('HP:0011446','Abnormality of higher mental function','Cognitive, psychiatric or memory anomaly.'),('HP:0011447','Hyposegmentation of neutrophil nuclei','Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.'),('HP:0011448','Ankle clonus','Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.'),('HP:0011449','Knee clonus','Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.'),('HP:0011450','Unusual CNS infection','A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.'),('HP:0011451','Congenital microcephaly','Head circumference below 2 standard deviations below the mean for age and gender at birth.'),('HP:0011452','Functional abnormality of the middle ear','An abnormality of the function of the middle ear.'),('HP:0011453','Abnormality of the incus','An abnormality of the incus, an ossicle in the middle ear.'),('HP:0011454','Abnormality of the malleus','An abnormality of the malleus, an ossicle in the middle ear.'),('HP:0011455','Absent malleus','Aplasia of the malleus.'),('HP:0011456','Absent stapes','Aplasia of the stapes.'),('HP:0011457','Loss of eyelashes','This term refers to the loss of eyelashes that were previously present.'),('HP:0011458','Abdominal symptom',''),('HP:0011459','Esophageal carcinoma','The presence of a carcinoma of the esophagus.'),('HP:0011460','Embryonal onset','Onset of disease at up to 8 weeks of gestation.'),('HP:0011461','Fetal onset','Onset prior to birth but after 8 weeks of gestation.'),('HP:0011462','Young adult onset','Onset of disease at the age of between 16 and 40 years.'),('HP:0011463','Childhood onset','Onset of disease at the age of between 1 and 5 years.'),('HP:0011464','Aganglionosis of the small intestine','A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.'),('HP:0011465','Duodenal aganglionosis','A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.'),('HP:0011466','Aplasia/Hypoplasia of the gallbladder','Absence or underdevelopment of the gallbladder.'),('HP:0011467','Absent gallbladder','A developmental defect in which the gallbladder fails to form.'),('HP:0011468','Facial tics','Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.'),('HP:0011469','Nasal regurgitation','Regurgitation of milk through the nose.'),('HP:0011470','Nasogastric tube feeding in infancy','Feeding problem necessitating nasogastric tube feeding.'),('HP:0011471','Gastrostomy tube feeding in infancy','Feeding problem necessitating gastrostomy tube feeding.'),('HP:0011472','Abnormality of small intestinal villus morphology',''),('HP:0011473','Villous atrophy','The enteric villi are atrophic or absent.'),('HP:0011474','Childhood onset sensorineural hearing impairment','Sensorineural hearing impairment with childhood onset.'),('HP:0011475','Persistent stapedial artery','Persistence of the stapedial artery, which normally regresses during embryonic life.'),('HP:0011476','Profound sensorineural hearing impairment','Complete loss of hearing related to a sensorineural defect.'),('HP:0011477','Upbeat nystagmus','In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.'),('HP:0011478','True anophthalmia','Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.'),('HP:0011479','Abnormal lacrimal punctum morphology','An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.'),('HP:0011480','Unilateral microphthalmos','A developmental anomaly characterized by abnormal smallness of one eye.'),('HP:0011481','Abnormal lacrimal duct morphology','An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.'),('HP:0011482','Abnormal lacrimal gland morphology','Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.'),('HP:0011483','Anterior synechiae of the anterior chamber','Adhesions between the iris and the cornea.'),('HP:0011484','Posterior synechiae of the anterior chamber','Adhesions between the iris and the lens.'),('HP:0011485','Corneolenticular adhesion','Developmental abnormality in which the lens and cornea are not separated.'),('HP:0011486','Abnormality of corneal thickness','An abnormal anteroposterior thickness of the cornea.'),('HP:0011487','Increased corneal thickness','A increased anteroposterior thickness of the cornea.'),('HP:0011488','Abnormal corneal endothelium morphology','Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.'),('HP:0011489','Abnormal migration of corneal endothelium','Abnormal migration of corneal endothelium.'),('HP:0011490','Abnormal Descemet membrane morphology','Abnormality of Descemet`s membrane, which is the basement membrane of the corneal endothelium.'),('HP:0011491','Reduced number of corneal endothelial cells','A reduction in the number of corneal endothelial cells.'),('HP:0011492','Abnormality of corneal stroma','An abnormality of the stroma of cornea, also known as the substantia propria of cornea.'),('HP:0011493','Central opacification of the cornea','Reduced transparency of the central portion of the corneal stroma.'),('HP:0011494','Generalized opacification of the cornea','Generalized reduced transparency of the stroma of the cornea.'),('HP:0011495','Abnormal corneal epithelium morphology','Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.'),('HP:0011496','Corneal neovascularization','Ingrowth of new blood vessels into the cornea.'),('HP:0011497','Iris neovascularization','New growth of vessels on the surface of the iris.'),('HP:0011498','obsolete Partial aniridia',''),('HP:0011499','Mydriasis','Abnormal dilatation of the iris.'),('HP:0011500','Polycoria','Multiple pupils.'),('HP:0011501','Anterior lenticonus','A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.'),('HP:0011502','Posterior lenticonus','A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.'),('HP:0011503','Aplasia of the fovea','Congenital absence of the fovea.'),('HP:0011504','Bull`s eye maculopathy','Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.'),('HP:0011505','Cystoid macular edema','Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.'),('HP:0011506','Choroidal neovascularization','Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.'),('HP:0011507','Macular flecks','Pale often indistinct lesions of the macula.'),('HP:0011508','Macular hole','A macular hole is a small break in the macula, located in the center of the retina.'),('HP:0011509','Macular hyperpigmentation','Increased amount of pigmentation in the macula lutea.'),('HP:0011510','Drusen','Drusen (singular, `druse`) are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch`s membrane of the eye.'),('HP:0011511','Macular schisis','Splitting of the retina in the macular region.'),('HP:0011512','Hyperpigmentation of the fundus','Increased pigmentation of the fundus'),('HP:0011513','Retinal cavernous angioma','A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a `cluster of grapes` appearance.'),('HP:0011514','Abnormality of binocular vision','An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.'),('HP:0011515','Abnormal stereopsis','Inability to make fine depth discriminations from parallax provided by the two eyes` different positions on the head.'),('HP:0011516','Achromatopsia','A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.'),('HP:0011517','Cone monochromacy','The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.'),('HP:0011518','Dichromacy','Individuals affected by dichromacy possess only two types of cones, instead of three.'),('HP:0011519','Anomalous trichromacy','Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.'),('HP:0011520','Deuteranomaly','A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.'),('HP:0011521','Deuteranopia','Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.'),('HP:0011522','Protanopia','Blue and green cones only; no functional red cones.'),('HP:0011523','Iris cyst','An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.'),('HP:0011524','Iris melanoma','Malignant tumor of melanocytes affecting the iris.'),('HP:0011525','Iris nevus','A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.'),('HP:0011526','Abnormality of lens shape','An abnormal shape of the lens.'),('HP:0011527','Lentiglobus','Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.'),('HP:0011528','Solitary congenital hypertrophy of retinal pigment epithelium','Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.'),('HP:0011529','Multiple bilateral congenital hypertrophy of retinal pigment epithelium','Sharply demarcated hyperpigmentation which is congenital.'),('HP:0011530','Retinal hole','A small break in the retina.'),('HP:0011531','Vitritis','Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.'),('HP:0011532','Subretinal exudate','A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.'),('HP:0011533','Snowflake vitreoretinal degeneration','The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.'),('HP:0011534','Abnormal spatial orientation of the cardiac segments','Abnormality of the spatial relationship of the cardiac segments to other components of the heart.'),('HP:0011535','Abnormal atrial arrangement','Abnormality of the spatial relationship of the atria to other components of the heart.'),('HP:0011536','Right atrial isomerism','Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.'),('HP:0011537','Left atrial isomerism','In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.'),('HP:0011538','Atrial situs inversus','Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.'),('HP:0011539','Atrial situs ambiguous','Common atrium without defining morphologic features.'),('HP:0011540','Congenitally corrected transposition of the great arteries','The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.'),('HP:0011541','Criss-cross atrioventricular valves','Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.'),('HP:0011542','Criss-cross atrioventricular valves with superior-inferior ventricles','Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.'),('HP:0011543','Superior-inferior ventricles without criss-cross atrioventricular valves',''),('HP:0011544','L-looping of the right ventricle',''),('HP:0011545','Abnormal connection of the cardiac segments','A deviance in the normal connections between two cardiac segements.'),('HP:0011546','Abnormal atrioventricular connection','An abnormality of the circulatory connection between atria and ventricles.'),('HP:0011547','Absent left sided atrioventricular connection','A defect where there is no connection between the left atrium and left ventricle.'),('HP:0011548','Absent right sided atrioventricular connection','A defect where there is no connection between the right atrium and right ventricle.'),('HP:0011549','Univentricular heart with absent left sided atrioventricular connection',''),('HP:0011550','Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection',''),('HP:0011551','Right sided atrium to left ventricle and absent left sided atrioventricular connection',''),('HP:0011552','Ambiguous atrioventricular connection','With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).'),('HP:0011553','Discordant atrioventricular connection','Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.'),('HP:0011554','Double inlet atrioventricular connection','The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.'),('HP:0011555','Double inlet left ventricle','The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.'),('HP:0011556','Double inlet right ventricle','The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.'),('HP:0011557','Double inlet to single ventricle of indeterminate morphology','The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.'),('HP:0011558','Double inlet to single ventricle with common atrioventricular orifice',''),('HP:0011559','Double inlet to single ventricle with two atrioventricular valves',''),('HP:0011560','Mitral atresia','A congenital defect with failure to open of the mitral valve orifice.'),('HP:0011561','Overriding atrioventricular valve','An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.'),('HP:0011562','Straddling atrioventricular valve','Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.'),('HP:0011563','Abnormal ventriculoarterial connection','An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.'),('HP:0011564','Mitral valve arcade','Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.'),('HP:0011565','Common atrium','Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.'),('HP:0011566','Cor triatriatum dexter','A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.'),('HP:0011567','Sinus venosus atrial septal defect','An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.'),('HP:0011568','Double orifice mitral valve','The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.'),('HP:0011569','Cleft anterior mitral valve leaflet','Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.'),('HP:0011570','Congenital mitral stenosis','Mitral stenosis with congenital onset.'),('HP:0011571','Parachute mitral valve','Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.'),('HP:0011572','Supramitral ring','A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.'),('HP:0011573','Hypoplastic tricuspid valve','Congenital defect characterized by underdevelopment of the tricuspid valve.'),('HP:0011574','Imperforate atrioventricular valve','An atrioventricular valve that has failed to open (atretic).'),('HP:0011575','Imperforate tricuspid valve','A tricuspid valve that has failed to open.'),('HP:0011576','Intermediate atrioventricular canal defect','A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.'),('HP:0011577','Partial atrioventricular canal defect','A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.'),('HP:0011578','Transitional atrioventricular canal defect','A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.'),('HP:0011579','Unbalanced atrioventricular canal defect','Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).'),('HP:0011580','Short chordae tendineae of the mitral valve','Abnormally short chordae tendineae of the mitral valve.'),('HP:0011581','Double outlet left ventricle','A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.'),('HP:0011582','Abdominal ectopia cordis','Displacement of the heart outside the thoracic cavity and into the abdomen.'),('HP:0011583','Cervical ectopia cordis','A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.'),('HP:0011584','Thoracocervical ectopia cordis','A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.'),('HP:0011585','Thoracic ectopia cordis','Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.'),('HP:0011586','Thoracoabdominal ectopia cordis','Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.'),('HP:0011587','Abnormal branching pattern of the aortic arch','A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.'),('HP:0011588','Cervical aortic arch','The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.'),('HP:0011589','Common origin of the right brachiocephalic artery and left common carotid artery','The left common carotid artery has a common origin with the innominate artery.'),('HP:0011590','Double aortic arch','A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).'),('HP:0011591','Left aortic arch with cervical origin of the right subclavian artery',''),('HP:0011592','Left aortic arch with isolated subclavian artery','The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.'),('HP:0011593','Left aortic arch with retroesophageal diverticulum of Kommerell','A patent ductus arteriosus or ductal ligament completes the ring.'),('HP:0011594','Right aortic arch with retroesophageal diverticulum of Kommerell','Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.'),('HP:0011595','Left aortic arch with retroesophageal right subclavian artery','Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.'),('HP:0011596','Left aortic arch with right descending aorta and right ductus arteriosus','The ring may be completed by the ductal ligament.'),('HP:0011597','Right aortic arch with left descending aorta and left ductus arteriosus',''),('HP:0011598','Right aortic arch with retroesophageal left subclavian artery',''),('HP:0011599','Mesocardia','Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.'),('HP:0011600','Abnormal direction of ventricular apex','Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.'),('HP:0011601','Rightward direction of ventricular apex','Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.'),('HP:0011602','Midline direction of ventricular apex','Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.'),('HP:0011603','Congenital malformation of the great arteries','Defect or defects of the morphogenesis of the aorta and pulmonary arteries.'),('HP:0011604','Aortopulmonary window','A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.'),('HP:0011605','Congenitally corrected transposition of the great arteries with ventricular septal defect','A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.'),('HP:0011606','obsolete Transposition of the great arteries with intact ventricular septum',''),('HP:0011607','obsolete Transposition of the great arteries with ventricular septal defect',''),('HP:0011608','Type II truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.'),('HP:0011609','Type III truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.'),('HP:0011610','Type IV truncus arteriosus','Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.'),('HP:0011611','Interrupted aortic arch','Non-continuity of the arch of aorta with an atretic point or absent segment.'),('HP:0011612','Interrupted aortic arch type A','Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.'),('HP:0011613','Interrupted aortic arch type B','Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.'),('HP:0011614','Interrupted aortic arch type C','Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.'),('HP:0011615','Abnormal pulmonary situs morphology','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.'),('HP:0011616','Pulmonary situs inversus','Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.'),('HP:0011617','Pulmonary situs ambiguus','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.'),('HP:0011618','Pulmonary situs ambiguus with bilateral morphologic right lungs','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.'),('HP:0011619','Pulmonary situs ambiguus with bilateral morphologic left lungs','An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.'),('HP:0011620','Abnormality of abdominal situs','An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.'),('HP:0011621','Gerbode ventricular septal defect','A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.'),('HP:0011622','Inlet ventricular septal defect','A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.'),('HP:0011623','Muscular ventricular septal defect','The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.'),('HP:0011624','Apical muscular ventricular septal defect','A muscular ventricular septal defect located at the apex of the heart.'),('HP:0011625','Multiple muscular ventricular septal defects','A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.'),('HP:0011626','Scimitar anomaly','Right pulmonary venous return to the inferior vena cava.'),('HP:0011627','Aorto-ventricular tunnel','Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle.'),('HP:0011628','Congenital defect of the pericardium','A developmental defect of the pericardium with congenital onset.'),('HP:0011629','Total absence of the pericardium','No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.'),('HP:0011630','Complete diaphragmatic absence of pericardium','No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.'),('HP:0011631','Complete right sided absence of pericardium','No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.'),('HP:0011632','Partial right sided absence of pericardium','A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.'),('HP:0011633','Complete left sided absence of pericardium','A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.'),('HP:0011634','Partial left sided absence of pericardium','A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.'),('HP:0011635','Partial diaphragmatic absence of pericardium','Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.'),('HP:0011636','Abnormal coronary artery origin','Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.'),('HP:0011637','Anomalous origin of coronary artery from the pulmonary artery','A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.'),('HP:0011638','Anomalous origin of left coronary artery from the pulmonary artery','Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.'),('HP:0011639','Anomalous origin of right coronary artery from the pulmonary artery','Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.'),('HP:0011640','Single coronary artery origin','The presence of a single coronary artery ostium from which both coronary arteries arise.'),('HP:0011641','Coronary artery fistula','A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.'),('HP:0011642','Abnormal coronary sinus morphology','An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.'),('HP:0011643','Coronary sinus atrial septal defect','An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.'),('HP:0011644','Coronary sinus diverticulum','A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.'),('HP:0011645','Dilatation of the sinus of Valsalva','Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.'),('HP:0011646','Juxtaductal coarctation of the aorta','Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.'),('HP:0011647','Postductal coarctation of the aorta','Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.'),('HP:0011648','Patent ductus arteriosus after birth at term','Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.'),('HP:0011649','Patent ductus arteriosus after premature birth','Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.'),('HP:0011650','Bilateral ductus arteriosus','The presence of both a left and a right ductus arteriosus.'),('HP:0011651','Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011652','Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011653','Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011654','Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011655','Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011656','Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011657','Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011658','Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis','A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.'),('HP:0011659','Tetralogy of Fallot with absent pulmonary valve','Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.'),('HP:0011660','Anomalous origin of one pulmonary artery from ascending aorta','Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.'),('HP:0011661','Anomalous origin of left pulmonary artery from ascending aorta','The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.'),('HP:0011662','Tricuspid atresia','Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.'),('HP:0011663','Right ventricular cardiomyopathy','Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.'),('HP:0011664','Left ventricular noncompaction cardiomyopathy','Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.'),('HP:0011665','Takotsubo cardiomyopathy','Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.'),('HP:0011666','Absent right superior vena cava','Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.'),('HP:0011667','Bilateral superior vena cava with bridging vein',''),('HP:0011668','Bilateral superior vena cava with no bridging vein',''),('HP:0011669','Left superior vena cava draining directly to the left atrium','A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.'),('HP:0011670','Left superior vena cava draining to coronary sinus','A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.'),('HP:0011671','Interrupted inferior vena cava with azygous continuation','Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.'),('HP:0011672','Cardiac myxoma','A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber.'),('HP:0011673','Cardiac hemangioma','Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.'),('HP:0011674','Cardiac teratoma','A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.'),('HP:0011675','Arrhythmia','Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.'),('HP:0011676','Tetralogy of Fallot with absent subarterial conus',''),('HP:0011677','Tetralogy of Fallot with atrioventricular canal defect',''),('HP:0011678','Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries','A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).'),('HP:0011679','Tetralogy of Fallot with pulmonary stenosis','The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.'),('HP:0011680','Single ventricle of indeterminate morphology',''),('HP:0011681','Subarterial ventricular septal defect','A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.'),('HP:0011682','Perimembranous ventricular septal defect','A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.'),('HP:0011683','Restrictive ventricular septal defect','Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.'),('HP:0011684','Non-restrictive ventricular septal defect','Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.'),('HP:0011685','Infra-aortic superior vena cava','The superior vena cava passes below the aortic arch.'),('HP:0011686','Abnormal coronary artery course','An abnormal path of a coronary artery.'),('HP:0011687','AV nodal tachycardia','A type of supraventricular tachycardia that originates in the atrioventricular node.'),('HP:0011688','Supraventricular tachycardia with an accessory connection mediated pathway','Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.'),('HP:0011689','Supraventricular tachycardia with a concealed accessory connection','Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.'),('HP:0011690','Permanent junctional reciprocating tachycardia','An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.'),('HP:0011691','Supraventricular tachycardia with a concealed accessory pathway on the left free wall',''),('HP:0011692','Supraventricular tachycardia with a concealed accessory pathway on the right free wall',''),('HP:0011693','Supraventricular tachycardia with a concealed accessory pathway on the septum',''),('HP:0011694','Supraventricular tachycardia with a manifest accessory pathway',''),('HP:0011695','Cerebellar hemorrhage','Hemorrhage into the parenchyma of the cerebellum.'),('HP:0011696','Supraventricular tachycardia with a manifest accessory pathway on the left free wall',''),('HP:0011697','Supraventricular tachycardia with a manifest accessory pathway on the right free wall',''),('HP:0011698','Supraventricular tachycardia with a manifest accessory pathway on the septum',''),('HP:0011699','Atrial reentry tachycardia',''),('HP:0011700','Automatic atrial tachycardia','Chronic supraventricular tachycardia predominantly seen in childhood.'),('HP:0011701','Multifocal atrial tachycardia','Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.'),('HP:0011702','Abnormal electrophysiology of sinoatrial node origin','An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.'),('HP:0011703','Sinus tachycardia','Heart rate of greater than 100 beats per minute.'),('HP:0011704','Sick sinus syndrome','An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.'),('HP:0011705','First degree atrioventricular block','Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.'),('HP:0011706','Second degree atrioventricular block','An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.'),('HP:0011707','Mobitz I atrioventricular block','Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).'),('HP:0011708','Mobitz II atrioventricular block','A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.'),('HP:0011709','Atrioventricular dissociation','Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.'),('HP:0011710','Bundle branch block','Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.'),('HP:0011711','Left anterior fascicular block','Conduction block in the anterior division of the left bundle branch of the bundle of His.'),('HP:0011712','Right bundle branch block','A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.'),('HP:0011713','Left bundle branch block','A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.'),('HP:0011714','Libman-Sacks lesions','Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.'),('HP:0011715','Trifascicular block','Abnormal conduction in all three divisions of the intraventricular conducting tissue.'),('HP:0011716','Junctional ectopic tachycardia','Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.'),('HP:0011717','Atrioventricular reentrant tachycardia','Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.'),('HP:0011718','Abnormality of the pulmonary veins','An abnormality of the pulmonary veins.'),('HP:0011719','Supracardiac total anomalous pulmonary venous connection','Type 1 total anomalous pulmonary venous connection.'),('HP:0011720','Cardiac total anomalous pulmonary venous connection','Type 2 total anomalous pulmonary venous connection.'),('HP:0011721','Infracardiac total anomalous pulmonary venous connection','Type 3 total anomalous pulmonary venous connection.'),('HP:0011722','Mixed total anomalous pulmonary venous connection','Type 4 total anomalous pulmonary venous connection.'),('HP:0011723','Congenital malformation of the right heart','Defect or defects of the morphogenesis of the right heart identifiable at birth.'),('HP:0011724','Uhl`s anomaly','Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.'),('HP:0011725','Chaotic multifocal atrial tachycardia',''),('HP:0011726','Persistent fetal circulation','Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.'),('HP:0011727','Peroneal muscle weakness','Weakness of the peroneal muscles.'),('HP:0011728','Elbow clonus','Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.'),('HP:0011729','Abnormality of joint mobility','An abnormality in the range and ease of motion of joints across their normal range.'),('HP:0011730','Abnormal central sensory function','An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.'),('HP:0011731','Abnormality of circulating cortisol level','An abnormality of the concentration of cortisol in the blood.'),('HP:0011732','Abnormality of adrenal morphology','Any structural anomaly of the adrenal glands.'),('HP:0011733','Abnormality of adrenal physiology','A functional abnormality of the adrenal glands.'),('HP:0011734','Central adrenal insufficiency','A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.'),('HP:0011735','Adrenocorticotropin deficient adrenal insufficiency','Adrenal insufficiency secondary to a defect in ACTH production.'),('HP:0011736','Primary hyperaldosteronism','A form of hyperaldosteronism caused by a defect within the adrenal gland.'),('HP:0011737','Corticotropin-releasing hormone deficient adrenal insufficiency','Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.'),('HP:0011738','Corticotropin-releasing hormone receptor defect','Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.'),('HP:0011739','Dexamethasone-suppressible primary hyperaldosteronism','A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.'),('HP:0011740','Glucocortocoid-insensitive primary hyperaldosteronism','A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.'),('HP:0011741','Secondary hyperaldosteronism','A form of hyperaldosteronism caused by abnormally increased renin levels.'),('HP:0011742','Ectopic adrenal gland','Abnormal anatomical location of the adrenal gland.'),('HP:0011743','Adrenal gland agenesis','Absent development of the adrenal gland.'),('HP:0011744','Secondary hypercortisolism','Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.'),('HP:0011745','Non-secretory adrenocortical adenoma','An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.'),('HP:0011746','Secretory adrenocortical adenoma','An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.'),('HP:0011747','Abnormality of the anterior pituitary','An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.'),('HP:0011748','Adrenocorticotropic hormone deficiency','A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.'),('HP:0011749','Adrenocorticotropic hormone excess','Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.'),('HP:0011750','Neoplasm of the anterior pituitary','A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.'),('HP:0011751','Abnormality of the posterior pituitary','An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.'),('HP:0011752','Neoplasm of the posterior pituitary','The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.'),('HP:0011753','Posterior pituitary dysgenesis','Abnormal development of the neurohypophysis during embryonic growth and development.'),('HP:0011754','Pituicytoma','A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.'),('HP:0011755','Ectopic posterior pituitary','An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.'),('HP:0011756','Posterior pituitary agenesis','Absence of the neurohypophysis owing to a developmental defect.'),('HP:0011757','Posterior pituitary hypoplasia','Underdevelopment of the neurohypophysis.'),('HP:0011758','Pituitary acidophilic stem cell adenoma',''),('HP:0011759','Pituitary gonadotropic cell adenoma','A type of pituitary adenoma that produces gonadotropins.'),('HP:0011760','Pituitary growth hormone cell adenoma','A type of pituitary adenoma that produces growth hormone.'),('HP:0011761','Pituitary null cell adenoma','A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.'),('HP:0011762','Pituitary thyrotropic cell adenoma','A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).'),('HP:0011763','Pituitary carcinoma','A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.'),('HP:0011764','Pituitary spindle cell oncocytoma','A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.'),('HP:0011765','obsolete Ectopic anterior pituitary',''),('HP:0011766','Abnormality of the parathyroid morphology','A structural abnormality of the parathyroid gland.'),('HP:0011767','Abnormality of the parathyroid physiology','A functional abnormality of the parathyroid gland.'),('HP:0011768','Parathyroid dysgenesis','Abnormal embryonic development of the parathyroid gland.'),('HP:0011769','Ectopic parathyroid','An abnormal anatomical location of the parathyroid gland.'),('HP:0011770','Tertiary hyperparathyroidism','A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.'),('HP:0011771','Autoimmune hypoparathyroidism','A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.'),('HP:0011772','Abnormality of thyroid morphology','A structural abnormality of the thyroid gland.'),('HP:0011773','Uninodular goiter','Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.'),('HP:0011774','Thyroid follicular adenoma',''),('HP:0011775','Thyroid macrofollicular adenoma',''),('HP:0011776','Thyroid microfollicular adenoma',''),('HP:0011777','Thyroid papillary adenoma',''),('HP:0011778','Thyroid atypical adenoma',''),('HP:0011779','Anaplastic thyroid carcinoma',''),('HP:0011780','Thyroid hemiagenesis','Absence of a lobe of the thyroid gland related to a failure of its embryologic development.'),('HP:0011781','Thyroid C cell hyperplasia','An abnormal growth of parafollicular (C-cells) cells.'),('HP:0011782','Thyroid crisis',''),('HP:0011783','Thyrotoxicosis from ectopic thyroid tissue',''),('HP:0011784','Thyrotoxicosis with diffuse goiter',''),('HP:0011785','Thyrotoxicosis with toxic multinodular goiter',''),('HP:0011786','Thyrotoxicosis with toxic single thyroid nodule',''),('HP:0011787','Central hypothyroidism','A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.'),('HP:0011788','Increased circulating free T3','An elevated concentration of free 3,3`,5-triiodo-L-thyronine in the blood circulation.'),('HP:0011789','Impaired sensitivity to thyroid stimulating hormone','Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).'),('HP:0011790','Activating thyroid-stimulating hormone receptor defect','Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.'),('HP:0011791','Inactivating thyroid-stimulating hormone receptor defect','Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.'),('HP:0011792','Neoplasm by histology','Neoplasm categorized according to type of histological abnormality.'),('HP:0011793','Neoplasm by anatomical site','Neoplasm categorized according to the anatomical site of origin of the neoplasm.'),('HP:0011794','Embryonal renal neoplasm','The presence of an embryonal neoplasm of the kidney that primarily affects children.'),('HP:0011795','Intralobar nephroblastomatosis','Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).'),('HP:0011796','Perilobar nephroblastomatosis','Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).'),('HP:0011797','Papillary renal cell carcinoma type 1','A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.'),('HP:0011798','Renal oncocytoma','A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.'),('HP:0011799','Abnormality of facial soft tissue',''),('HP:0011800','Midface retrusion','Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.'),('HP:0011801','Enlargement of parotid gland','Increased size of the parotid gland.'),('HP:0011802','Hamartoma of tongue','A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.'),('HP:0011803','Bifid nose','Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.'),('HP:0011804','Abnormal muscle physiology','A functional abnormality of a skeletal muscle.'),('HP:0011805','Abnormal skeletal muscle morphology','A structural abnormality of a skeletal muscle.'),('HP:0011807','Type 1 muscle fiber atrophy','Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.'),('HP:0011808','Decreased patellar reflex','Decreased intensity of the patellar reflex (also known as the knee jerk reflex).'),('HP:0011809','Paradoxical myotonia','A type of myotonia that worsens with repeated muscle contractions.'),('HP:0011810','Impaired two-point discrimination','A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.'),('HP:0011811','Impaired touch localization','A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.'),('HP:0011812','Agraphesthesia','Impaired ability to recognize letters or numbers drawn by an examiner`s fingertip on the patient`s skin (the patients eyes are closed or covered throughout this examination).'),('HP:0011813','Increased cerebral lipofuscin','Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.'),('HP:0011814','Increased urinary hypoxanthine','An increased level of hypoxanthine in the urine.'),('HP:0011815','Cephalocele','A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.'),('HP:0011816','Parietal encephalocele','An encephalocele located between bregma and lambda.'),('HP:0011817','Basal encephalocele','Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.'),('HP:0011818','Nasofrontal encephalocele',''),('HP:0011819','Submucous cleft soft palate','A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.'),('HP:0011820','Membranous choanal atresia','Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.'),('HP:0011821','Abnormality of facial skeleton','An abnormality of one or more of the set of bones that make up the facial skeleton.'),('HP:0011822','Broad chin','Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.'),('HP:0011823','Chin with horizontal crease','Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.'),('HP:0011824','Chin with H-shaped crease','H-shaped crease in the fat pad of the chin.'),('HP:0011825','Tented philtrum','Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.'),('HP:0011826','Philtrum with midline raphe','Narrow ridge in the midline of the philtral groove.'),('HP:0011827','Malaligned philtral ridges','Absence of the usual parallel position of philtral ridges.'),('HP:0011828','Midline sinus of philtrum','Pit in the midline of the philtral groove.'),('HP:0011829','Narrow philtrum','Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.'),('HP:0011830','Abnormal oral mucosa morphology','Abnormality of the oral mucosa.'),('HP:0011831','Deviated nasal tip','Nasal tip positioned to one side of the midline.'),('HP:0011832','Narrow nasal tip','Decrease in width of the nasal tip.'),('HP:0011833','Overhanging nasal tip','Positioning of the nasal tip inferior to the nasal base.'),('HP:0011834','Moyamoya phenomenon','A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.'),('HP:0011835','Absent scaphoid','Congenital absence of the scaphoid..'),('HP:0011836','Delayed talus ossification','Delayed maturation and calcification of the talus.'),('HP:0011837','Partial IgA deficiency','Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.'),('HP:0011838','Sclerodactyly','Localized thickening and tightness of the skin of the fingers or toes.'),('HP:0011839','Abnormal T cell count','A deviation from the normal count of T cells.'),('HP:0011840','Abnormality of T cell physiology','A functional anomaly of T cells.'),('HP:0011841','Ventricular flutter','A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.'),('HP:0011842','Abnormality of skeletal morphology','An abnormality of the form, structure, or size of the skeletal system.'),('HP:0011843','Abnormality of skeletal physiology','An abnormality of the function of the skeletal system.'),('HP:0011844','Abnormal appendicular skeleton morphology','An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.'),('HP:0011845','Short second metatarsal','Short (hypoplastic) second metatarsal bone.'),('HP:0011846','Osteoblastoma','A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.'),('HP:0011847','Giant cell tumor of bone','A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.'),('HP:0011848','Abdominal colic','A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.'),('HP:0011849','Abnormal bone ossification','Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.'),('HP:0011850','Parotitis','Inflammation of the parotid gland.'),('HP:0011851','Hemopericardium','Accumulation of blood within the pericardial sac.'),('HP:0011852','Chylopericardium','Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.'),('HP:0011853','Serous pericardial effusion','Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.'),('HP:0011854','Hemoperitoneum','Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.'),('HP:0011855','Pharyngeal edema','Abnormal accumulation of fluid leading to swelling of the pharynx.'),('HP:0011856','Pica','An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.'),('HP:0011857','Plasmacytoma','A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.'),('HP:0011858','Reduced factor IX activity','Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.'),('HP:0011859','Punctate keratitis','A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.'),('HP:0011860','Metaphyseal dappling','The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.'),('HP:0011861','Bilateral trilobed lungs','Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.'),('HP:0011862','Abnormal bone collagen fibril morphology','Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.'),('HP:0011863','Abnormal sternal ossification','Any anomaly in the formation of the bony substance of the sternum.'),('HP:0011864','Elevated plasma pyrophosphate','An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.'),('HP:0011867','Abnormality of the wing of the ilium','An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.'),('HP:0011868','Sciatica','Pain in the lower back and hip radiating in the distribution of the sciatic nerve.'),('HP:0011869','Abnormal platelet function','Any anomaly in the function of thrombocytes.'),('HP:0011870','Impaired arachidonic acid-induced platelet aggregation','Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.'),('HP:0011871','Impaired ristocetin-induced platelet aggregation','Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.'),('HP:0011872','Impaired thrombin-induced platelet aggregation','Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).'),('HP:0011873','Abnormal platelet count','Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.'),('HP:0011874','Heparin-induced thrombocytopenia','Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.'),('HP:0011875','Abnormal platelet morphology','An anomaly in platelet form, ultrastructure, or intracellular organelles.'),('HP:0011876','Abnormal platelet volume','Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.'),('HP:0011877','Increased mean platelet volume','Average platelet volume above the upper limit of the normal reference interval.'),('HP:0011878','Abnormal platelet membrane protein expression','Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.'),('HP:0011879','Decreased platelet glycoprotein Ib-IX-V','Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.'),('HP:0011880','Acute disseminated intravascular coagulation','An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.'),('HP:0011881','Decreased platelet glycoprotein VI','Decreased cell membrane concentration of glycoprotein VI.'),('HP:0011882','Decreased platelet P2Y12 receptor','Decreased cell membrane concentration of P2Y12 receptor.'),('HP:0011883','Abnormal platelet granules','An anomaly of alpha or dense granules or platelet lysosomes.'),('HP:0011884','Abnormal umbilical stump bleeding','Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.'),('HP:0011885','Hemorrhage of the eye','Bleeding from vessels of the various tissues of the eye.'),('HP:0011886','Hyphema','Bleeding in the anterior chamber of the eye.'),('HP:0011887','Choroid hemorrhage','Hemorrhage from the vessels of the choroid.'),('HP:0011888','Bleeding requiring red cell transfusion','Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).'),('HP:0011889','Bleeding with minor or no trauma','Significant bleeding or hemorrhage without significant precipitating factor.'),('HP:0011890','Prolonged bleeding following procedure','Prolonged or protracted bleeding following an invasive procedure or intervention.'),('HP:0011891','Post-partum hemorrhage','Significant maternal haemorrhage/blood loss following deilvery of a child.'),('HP:0011892','Low levels of vitamin K','A reduced concentration of vitamin K.'),('HP:0011893','Abnormal leukocyte count','Number of leukocytes per volume of blood beyond normal limits.'),('HP:0011894','Impaired thromboxane A2 agonist-induced platelet aggregation','Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.'),('HP:0011895','Anemia due to reduced life span of red cells','A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.'),('HP:0011896','Subconjunctival hemorrhage','Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.'),('HP:0011897','Neutrophilia','Increased number of neutrophils circulating in blood.'),('HP:0011898','Abnormality of circulating fibrinogen','An abnormality of the level of activity of circulating fibrinogen.'),('HP:0011899','Hyperfibrinogenemia','Increased concentration of fibrinogen in the blood.'),('HP:0011900','Hypofibrinogenemia','Decreased concentration of fibrinogen in the blood.'),('HP:0011901','Dysfibrinogenemia','Qualitatively abnormal fibrinogen.'),('HP:0011902','Abnormal hemoglobin','Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.'),('HP:0011903','HbH hemoglobin','Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.'),('HP:0011904','Persistence of hemoglobin F','Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.'),('HP:0011905','Reduced hemoglobin A','Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.'),('HP:0011906','Reduced beta/alpha synthesis ratio','A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.'),('HP:0011907','Reduced alpha/beta synthesis ratio','A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.'),('HP:0011908','Unilateral radial aplasia','Missing radius bone on one side only associated with congenital failure of development.'),('HP:0011909','Flattened metacarpal heads','Abnormally flat shape of the heads of the metacarpal bones.'),('HP:0011910','Shortening of all phalanges of fingers','Abnormal reduction in length affecting all phalanges.'),('HP:0011911','Abnormality of metacarpophalangeal joint','An anomaly of a metacarpophalangeal joint.'),('HP:0011912','Abnormality of the glenoid fossa','An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.'),('HP:0011913','Lumbar hypertrichosis','Excessive, increased hair growth located in the lumbar region.'),('HP:0011914','Thoracic hypertrichosis','Excessive, increased hair growth located in the thoracic region.'),('HP:0011915','Cardiovascular calcification','Abnormal calcification in the cardiovascular system.'),('HP:0011916','Toe extensor amyotrophy','Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.'),('HP:0011917','Short 5th toe','Underdevelopment (hypoplasia) of the fifth toe.'),('HP:0011918','Clinodactyly of the 4th toe','Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).'),('HP:0011919','Pleural empyema','Accumulation of pus in the pleural cavity.'),('HP:0011920','Transudative pleural effusion','A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light`s criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.'),('HP:0011921','Exudative pleural effusion','A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light`s criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.'),('HP:0011922','Abnormal activity of mitochondrial respiratory chain','An increased or decreased activity of the mitochondrial respiratory chain.'),('HP:0011923','Decreased activity of mitochondrial complex I','A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.'),('HP:0011924','Decreased activity of mitochondrial complex III','A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.'),('HP:0011925','Decreased activity of mitochondrial ATP synthase complex','A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.'),('HP:0011926','Proximal placement of hallux','Proximal mislocalization of the big toe from its normal position.'),('HP:0011927','Short digit','One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.'),('HP:0011928','Short proximal phalanx of toe','Developmental hypoplasia (shortening) of proximal phalanx of toe.'),('HP:0011929','Hypersegmentation of proximal phalanx of third finger','Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.'),('HP:0011930','Hyperextensible skin of chest',''),('HP:0011931','Abnormality of the cerebellar peduncle','An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.'),('HP:0011932','Abnormality of the superior cerebellar peduncle','An anomaly of the superior cerebellar peduncle.'),('HP:0011933','Elongated superior cerebellar peduncle','Increased length of the superior cerebellar peduncle.'),('HP:0011934','Dilatation of mesenteric artery','Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .'),('HP:0011935','Decreased urinary urate','Decreased concentration of urate in the urine.'),('HP:0011936','Decreased plasma total carnitine','A decreased concentration of total carnitine in the blood.'),('HP:0011937','Hypoplastic fifth toenail','Underdeveloped nails of the fifth toes.'),('HP:0011939','3-4 finger cutaneous syndactyly','A soft tissue continuity in the A/P axis between fingers 3 and 4.'),('HP:0011940','Anterior wedging of T12','An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).'),('HP:0011941','Anterior wedging of L2','An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).'),('HP:0011942','Increased urinary sulfite','Increased concentration of SO3(2-), i.e., sulfite, in the urine.'),('HP:0011943','Increased urinary thiosulfate','Increased concentration of thiosulfate(2-) in the urine.'),('HP:0011944','Small vessel vasculitis','A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.'),('HP:0011945','Bronchiolitis obliterans organizing pneumonia','Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.'),('HP:0011946','Bronchiolitis obliterans','Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.'),('HP:0011947','Respiratory tract infection','An infection of the upper or lower respiratory tract.'),('HP:0011948','Recurrent acute respiratory tract infection','A history of repeated acute infections of the upper or lower respiratory tract.'),('HP:0011949','Acute infectious pneumonia','Acute inflammation of the lung due to an infection.'),('HP:0011950','Bronchiolitis','Inflammation of the bronchioles.'),('HP:0011951','Aspiration pneumonia','Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.'),('HP:0011952','Acute aspiration pneumonia','An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.'),('HP:0011953','Pulmonary lymphoma','Lung parenchymal involvement with lymphoma.'),('HP:0011954','Nodular regenerative hyperplasia of liver','Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.'),('HP:0011955','Hepatic granulomatosis','The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.'),('HP:0011956','Intestinal lymphoid nodular hyperplasia','A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.'),('HP:0011957','Abnormal pectoral muscle morphology','An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.'),('HP:0011958','Retinal perforation','A small hole through the whole thickness of the retina.'),('HP:0011959','Unilateral hypoplasia of pectoralis major muscle','Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.'),('HP:0011960','Substantia nigra gliosis','Focal proliferation of glial cells in the substantia nigra.'),('HP:0011961','Non-obstructive azoospermia','Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.'),('HP:0011962','Obstructive azoospermia','Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.'),('HP:0011963','Pretesticular azoospermia','Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.'),('HP:0011964','Intermittent painful muscle spasms','History of repeated intermittent involuntary muscle contractions that were painful.'),('HP:0011965','Abnormal circulating citrulline concentration','Any deviation from the normal concentration of citrulline in the blood circulation.'),('HP:0011966','Elevated plasma citrulline','An increased concentration of citrulline in the blood.'),('HP:0011967','Decreased circulating copper concentration','A reduced concentration of copper in the blood.'),('HP:0011968','Feeding difficulties','Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.'),('HP:0011969','Elevated circulating luteinizing hormone level','An elevated concentration of luteinizing hormone in the blood.'),('HP:0011970','Cerebral amyloid angiopathy','Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.'),('HP:0011971','Dermatographic urticaria','An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).'),('HP:0011972','Hypoglycorrhachia','Abnormally low glucose concentration in the cerebrospinal fluid.'),('HP:0011973','Paroxysmal lethargy','Repeated episodes of sudden-onset and transient lethargy.'),('HP:0011974','Myelofibrosis','Replacement of bone marrow by fibrous tissue.'),('HP:0011975','Aminoglycoside-induced hearing loss','Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.'),('HP:0011976','Elevated urinary catecholamines','An increased concentration of catecholamine in the urine.'),('HP:0011977','Elevated urinary homovanillic acid','An increased concentration of homovanillic acid in the urine.'),('HP:0011978','Elevated urinary vanillylmandelic acid','An increased concentration of vanillylmandelic acid in the urine.'),('HP:0011979','Elevated urinary dopamine','An increased concentration of dopamine in the urine.'),('HP:0011980','Cholesterol gallstones','Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.'),('HP:0011981','Pigment gallstones','Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.'),('HP:0011982','Black pigment gallstones','A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.'),('HP:0011983','Brown pigment gallstones','A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.'),('HP:0011984','Atretic gallbladder','Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.'),('HP:0011985','Acholic stools','Clay colored stools lacking bile pigment.'),('HP:0011986','Ectopic ossification','Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.'),('HP:0011987','Ectopic ossification in muscle tissue','Formation of abnormal bony tissue within muscle tissue.'),('HP:0011988','Ectopic ossification in tendon tissue','Formation of abnormal bony tissue within tendon tissue.'),('HP:0011989','Ectopic ossification in ligament tissue','Formation of abnormal bony tissue within ligament tissue.'),('HP:0011990','Abnormality of neutrophil physiology','A functional abnormality of neutrophils.'),('HP:0011991','Abnormal neutrophil count','A deviation from the normal range of neutrophil cell counts in the circulation.'),('HP:0011992','Abnormality of neutrophil morphology','An abnormal form or size of neutrophils.'),('HP:0011993','Impaired neutrophil bactericidal activity','A reduction in the ability of neutrophils to kill bacteria.'),('HP:0011994','Abnormal atrial septum morphology','An abnormality of the interatrial septum.'),('HP:0011995','Atrial septal dilatation','A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.'),('HP:0011996','Elevated coagulation factor V activity','Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.'),('HP:0011997','Postprandial hyperlactemia','Abnormally increased level of blood lactate following a meal.'),('HP:0011998','Postprandial hyperglycemia','An increased concentration of glucose in the blood following a meal.'),('HP:0011999','Paranoia','A persecutory delusion of supposed hostility of others.'),('HP:0012000','EEG with generalized spikes','EEG with generalized sharp transient waves of a duration less than 80 msec.'),('HP:0012001','EEG with generalized polyspikes','EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.'),('HP:0012002','Experiential auras','Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.'),('HP:0012003','Affective auras','Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.'),('HP:0012004','Mnemonic auras','Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu).'),('HP:0012005','Deja vu','A subjective feeling that an experience which is occurring for the first time has been experienced before.'),('HP:0012006','Jamais vu','A subjective feeling that an experience which has occurred before is being experienced for the first time.'),('HP:0012007','Hallucinatory auras','Auras with creation of composite perceptions without corresponding external stimuli involving visual, auditory, somatosensory, olfactory and/or gustatory phenomena.'),('HP:0012008','Illusory auras','Auras with an alteration of actual percepts involving the visual, auditory, somatosensory, olfactory or gustatory systems.'),('HP:0012009','EEG with central focal spike waves','EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012010','EEG with frontal focal spike waves','EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012011','EEG with occipital focal spike waves','EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012012','EEG with parietal focal spike waves','EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012013','EEG with temporal focal spike waves','EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012014','EEG with central focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the central region.'),('HP:0012015','EEG with frontal focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.'),('HP:0012016','EEG with occipital focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.'),('HP:0012017','EEG with parietal focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.'),('HP:0012018','EEG with temporal focal spikes','EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.'),('HP:0012019','Lens luxation','Complete dislocation of the lens of the eye.'),('HP:0012020','Right aortic arch','Aorta descends on right instead of on the left.'),('HP:0012021','Persistent patent ductus venosus','Persistence of blood flow through the ductus venosus for longer than the normal time after birth.'),('HP:0012022','Congenital portosystemic venous shunt','A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).'),('HP:0012023','Galactosuria','Elevated concentration of galactose in the urine.'),('HP:0012024','Hypergalactosemia','Elevated concentration of galactose in the blood.'),('HP:0012025','Abnormal circulating ornithine concentration','Deviation from the normal concentration of ornithine in the blood circulation.'),('HP:0012026','Hyperornithinemia','Increased concentration of ornithine in the blood.'),('HP:0012027','Laryngeal edema','An abnormal accumulation of fluid and swelling in the tissues of the larynx.'),('HP:0012028','Hepatocellular adenoma','A benign tumor of the liver of presumably epithelial origin.'),('HP:0012029','Abnormal urine hormone level','An abnormal concentration of a hormone in the urine.'),('HP:0012030','Increased urinary cortisol level','Abnormally increased concentration of cortisol in the urine.'),('HP:0012031','Lipomatous tumor',''),('HP:0012032','Lipoma','Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.'),('HP:0012033','Sacral lipoma','Presence of a lipoma in the region of the sacrum.'),('HP:0012034','Liposarcoma','Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.'),('HP:0012035','Steatocystoma multiplex','Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).'),('HP:0012036','Sternocleidomastoid amyotrophy','Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.'),('HP:0012037','Pectoralis amyotrophy','Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.'),('HP:0012038','Corneal guttata','Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet`s membrane. The presence of focal thickenings of Descemet`s membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.'),('HP:0012039','Descemet Membrane Folds','Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.'),('HP:0012040','Corneal stromal edema','Abnormal accumulation of fluid and swelling of the stroma of cornea.'),('HP:0012041','Decreased fertility in males',''),('HP:0012042','Aspirin-induced asthma','A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.'),('HP:0012043','Pendular nystagmus','Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.'),('HP:0012044','Seesaw nystagmus','Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.'),('HP:0012045','Retinal flecks','Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.'),('HP:0012046','Areflexia of upper limbs','Inability to elicit tendon reflexes in the upper limbs.'),('HP:0012047','Hemeralopia','A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.'),('HP:0012048','Oromandibular dystonia','A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.'),('HP:0012049','Laryngeal dystonia','A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.'),('HP:0012050','Anasarca','An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.'),('HP:0012051','Reactive hypoglycemia','Hypoglycermia following a meal (or more generally, after intake of glucose).'),('HP:0012052','Low serum calcitriol','A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.'),('HP:0012053','Low serum calcifediol','A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.'),('HP:0012054','Choroidal melanoma','Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).'),('HP:0012055','Ciliary body melanoma','Malignant tumor of melanocytes of the ciliary body.'),('HP:0012056','Cutaneous melanoma','The presence of a melanoma of the skin.'),('HP:0012057','Superficial spreading melanoma','A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.'),('HP:0012058','Nodular melanoma','A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.'),('HP:0012059','Lentigo maligna melanoma','A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.'),('HP:0012060','Acral lentiginous melanoma','A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.'),('HP:0012061','Urinary excretion of sialylated oligosaccharides','Excretion of oligosaccharides conjugated to sialic acid in the urine.'),('HP:0012062','Bone cyst','A fluid filled cavity that develops with a bone.'),('HP:0012063','Aneurysmal bone cyst','Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.'),('HP:0012064','Unicameral bone cyst','A benign fluid filled simple cyst of bone filled with serous fluid.'),('HP:0012065','Multiple bony cystic lesions','Presence of multiple cystic changes in multiple areas or multiple bones.'),('HP:0012066','Increased urinary disaccharide excretion','Increased concentration of disaccharide in the urine.'),('HP:0012067','Glycopeptiduria','Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.'),('HP:0012068','Aspartylglucosaminuria','Excretion of excess amounts of aspartylglucosamine in the urine.'),('HP:0012069','Keratan sulfate excretion in urine','An increased concentration of keratan sulfate in the urine.'),('HP:0012070','Chondroitin sulfate excretion in urine','An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.'),('HP:0012071','Abnormal circulating acetylcarnitine concentration','Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.'),('HP:0012072','Aciduria','Excretion of urine with an acid pH.'),('HP:0012073','Abnormal urinary acylglycine profile','An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.'),('HP:0012074','Tonic pupil','An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.'),('HP:0012075','Personality disorder','An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.'),('HP:0012076','Borderline personality disorder','A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions.'),('HP:0012077','Histrionic personality disorder','A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.'),('HP:0012078','Motor conduction block','Blockade of impulses at a focal site along the course of a motor axon.'),('HP:0012079','Abnormality of central motor conduction','Any anomaly of the conduction of motor nerve impulses in the central nervous system.'),('HP:0012080','Cerebellar granular layer atrophy','Atrophy of the cerebellum affecting primarily the granular cell layer.'),('HP:0012081','Enlarged cerebellum','An abnormally increased size of the cerebellum compared to other brain structures.'),('HP:0012082','Cerebellar Purkinje layer atrophy','Atrophy of the cerebellum affecting primarily the Purkinje cell layer.'),('HP:0012083','Ubiquitin-positive cerebral inclusion bodies','Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.'),('HP:0012084','Abnormality of skeletal muscle fiber size','Any abnormality of the size of the skeletal muscle cell.'),('HP:0012085','Pyuria','The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.'),('HP:0012086','Abnormal urinary color','An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.'),('HP:0012087','Abnormal mitochondrial shape','An anomaly in the surface contour of mitochondria.'),('HP:0012088','Abnormal urinary odor','A deviation from the normal odor of the urine.'),('HP:0012089','Arteritis','Arterial inflammation.'),('HP:0012090','Abnormal pancreas morphology',''),('HP:0012091','Abnormality of pancreas physiology','An anomaly of the function of the pancreas.'),('HP:0012092','Abnormality of exocrine pancreas physiology','A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.'),('HP:0012093','Abnormality of endocrine pancreas physiology','A function abnormality of the endocrine pancreas.'),('HP:0012094','Abnormal pancreas size','A deviation from the normal size of the pancreas.'),('HP:0012095','Multiple joint dislocation','Dislocation of many joints.'),('HP:0012096','Intracranial epidermoid cyst','A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.'),('HP:0012097','Intracranial dermoid cyst','A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.'),('HP:0012098','Edema of the dorsum of feet','An abnormal accumulation of fluid beneath the skin on the back of the feet.'),('HP:0012099','Abnormality of circulating catecholamine level','An abnormal catecholamine concentration in the blood.'),('HP:0012100','Abnormal circulating creatinine level','An abnormal concentration of creatinine in the blood.'),('HP:0012101','Decreased serum creatinine','An abnormally reduced amount of creatinine in the blood.'),('HP:0012102','Abnormal mitochondrial number','A deviation from the normal number of mitochondria per cell.'),('HP:0012103','Abnormality of the mitochondrion','An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.'),('HP:0012104','Parietal cortical atrophy','Atrophy of the parietal cortex.'),('HP:0012105','Occipital cortical atrophy','Atrophy of the occipital cortex.'),('HP:0012106','Rhizomelic leg shortening','Disproportionate shortening of the proximal segment of the leg (i.e. the femur).'),('HP:0012107','Increased fibular diameter','Increased width of the cross sectional diameter of the fibula.'),('HP:0012108','Open angle glaucoma','A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,'),('HP:0012109','Angle closure glaucoma','A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).'),('HP:0012110','Hypoplasia of the pons','Underdevelopment of the pons.'),('HP:0012111','Abnormality of circulating glucocorticoid level','An abnormality of the concentration of a glucocorticoid in the blood.'),('HP:0012112','Abnormal circulating corticosterone level','An abnormality of the concentration of corticosterone in the blood.'),('HP:0012113','Abnormal circulating creatine concentration','A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.'),('HP:0012114','Endometrial carcinoma','A carcinoma of the endometrium, the mucous lining of the uterus.'),('HP:0012115','Hepatitis','Inflammation of the liver.'),('HP:0012116','Abnormal albumin level','Deviation from normal concentration of albumin in the blood.'),('HP:0012117','Hyperalbuminemia','Elevation in the concentration of albumin in the blood.'),('HP:0012118','Laryngeal carcinoma','A carcinoma of the larynx.'),('HP:0012119','Methemoglobinemia','Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.'),('HP:0012120','Methylmalonic aciduria','Increased concentration of methylmalonic acid in the urine.'),('HP:0012121','Panuveitis','Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.'),('HP:0012122','Anterior uveitis','Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.'),('HP:0012123','Posterior uveitis','Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.'),('HP:0012124','Intermediate uveitis','Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.'),('HP:0012125','Prostate cancer','A cancer of the prostate.'),('HP:0012126','Stomach cancer','A cancer arising in any part of the stomach.'),('HP:0012127','Uraciluria','Increased concentration of uracil in the urine.'),('HP:0012128','Basal ganglia necrosis','Death of cells in the basal ganglia.'),('HP:0012129','Abnormality of bone marrow stromal cells',''),('HP:0012130','Abnormal erythroid lineage cell morphology','An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.'),('HP:0012131','Abnormal number of erythroid precursors','A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.'),('HP:0012132','Erythroid hyperplasia','Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.'),('HP:0012133','Erythroid hypoplasia','Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.'),('HP:0012134','Dysplastic erythropoesis',''),('HP:0012135','Abnormal granulocytopoietic cell morphology','An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.'),('HP:0012136','Dysplastic granulopoesis',''),('HP:0012137','Abnormal number of granulocyte precursors',''),('HP:0012138','Granulocytic hyperplasia',''),('HP:0012139','Granulocytic hypoplasia','Decreased number of granulocyte precursors in the bone marrow.'),('HP:0012140','obsolete Abnormality of cells of the lymphoid lineage',''),('HP:0012142','Pancreatic squamous cell carcinoma','A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.'),('HP:0012143','Abnormal megakaryocyte morphology','Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.'),('HP:0012144','Abnormality monocyte morphology','Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.'),('HP:0012145','Abnormality of multiple cell lineages in the bone marrow',''),('HP:0012146','Abnormality of von Willebrand factor','Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.'),('HP:0012147','Reduced quantity of Von Willebrand factor','Decreased quantity of von Willebrand factor.'),('HP:0012148','Multiple lineage myelodysplasia','Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.'),('HP:0012149','Bilineage myelodysplasia','Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.'),('HP:0012150','Single lineage myelodysplasia','Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).'),('HP:0012151','Hemothorax','The presence of blood in the pleural space.'),('HP:0012152','Foveoschisis','Splitting of the retinal layers in the macula.'),('HP:0012153','Hypotriglyceridemia','An decrease in the level of triglycerides in the blood.'),('HP:0012154','Anhedonia','Inability to experience pleasure activities usually found enjoyable.'),('HP:0012155','Decreased corneal sensation','Reduced ability of the cornea to respond to stimulation.'),('HP:0012156','Hemophagocytosis','Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.'),('HP:0012157','Subcortical cerebral atrophy','Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.'),('HP:0012158','Carotid artery dissection','A separation (dissection) of the layers of the carotid artery wall.'),('HP:0012159','Internal carotid artery dissection','A separation (dissection) of the layers of the internal carotid artery wall.'),('HP:0012160','Intracranial internal carotid artery dissection','A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.'),('HP:0012161','External carotid artery dissection','A separation (dissection) of the layers of the external carotid artery wall.'),('HP:0012162','Common carotid artery dissection','A separation (dissection) of the layers of the common carotid artery wall.'),('HP:0012163','Carotid artery dilatation','A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.'),('HP:0012164','Asterixis','A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.'),('HP:0012165','Oligodactyly','A developmental defect resulting in the presence of fewer than the normal number of digits.'),('HP:0012166','Skin-picking','Repetitive and compulsive picking of skin which results in tissue damage.'),('HP:0012167','Hair-pulling','A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.'),('HP:0012168','Head-banging','Habitual striking of one`s own head against a surface such as a mattress or wall of a crib.'),('HP:0012169','Self-biting','Habitual biting of one`s own body.'),('HP:0012170','Nail-biting','Habitual biting of one`s own fingernails.'),('HP:0012171','Stereotypical hand wringing','Habitual clasping and squeezing of the hands.'),('HP:0012172','Stereotypical body rocking','Habitual repetitive movement of the body.'),('HP:0012173','Orthostatic tachycardia','An increase in heart rate with standing of 30 beats per minute or more.'),('HP:0012174','Glioblastoma multiforme','A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.'),('HP:0012175','Resistance to activated protein C','Poor anticoagulant response to activated protein C. A plasma is termed `APC resistant` when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.'),('HP:0012176','Abnormal natural killer cell morphology','An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.'),('HP:0012177','Abnormal natural killer cell physiology','A functional anomaly of the natural killer cell.'),('HP:0012178','Reduced natural killer cell activity','Reduced ability of the natural killer cell to function in the adaptive immune response.'),('HP:0012179','Craniofacial dystonia','A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.'),('HP:0012180','Cystic medial necrosis','A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.'),('HP:0012181','Entrapment neuropathy','Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.'),('HP:0012182','Oropharyngeal squamous cell carcinoma','A squamous cell carcinoma that originates in the oropharnyx.'),('HP:0012183','Hyperplastic colonic polyposis','Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.'),('HP:0012184','Increased HDL cholesterol concentration','An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.'),('HP:0012185','Constrictive median neuropathy','Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.'),('HP:0012186','Entrapment neuropathy of the ulnar nerve at elbow','An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.'),('HP:0012187','Increased erythrocyte protoporphyrin concentration','An increased concentration of protoporphyrins in erythrocytes.'),('HP:0012188','Hyperemesis gravidarum','Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.'),('HP:0012189','Hodgkin lymphoma','A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.'),('HP:0012190','T-cell lymphoma','A type of lymphoma that originates in T-cells.'),('HP:0012191','B-cell lymphoma','A type of lymphoma that originates in B-cells.'),('HP:0012192','Cutaneous T-cell lymphoma','A type of T-cell lymphoma that exhibits malignant infiltration of the skin.'),('HP:0012193','Anaplastic large-cell lymphoma','A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.'),('HP:0012194','Episodic hemiplegia','Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.'),('HP:0012195','Irregular respiration','Uneven rhythm of breathing.'),('HP:0012196','Cheyne-Stokes respiration','An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.'),('HP:0012197','Insulinoma','A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.'),('HP:0012198','Juvenile colonic polyposis','The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.'),('HP:0012199','Cluster headache','A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.'),('HP:0012200','Abnormality of prothrombin','An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.'),('HP:0012201','obsolete Reduced prothrombin activity',''),('HP:0012202','Increased serum bile acid concentration','An increase in the concentration of bile acid in the blood.'),('HP:0012203','Onychomycosis','A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.'),('HP:0012204','Recurrent vulvovaginal candidiasis','Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.'),('HP:0012205','Globozoospermia','Any structural anomaly of the acrosome resulting in a round sperm head.'),('HP:0012206','Abnormal sperm motility','An anomaly of the mobility of ejaculated sperm.'),('HP:0012207','Reduced sperm motility','An abnormal reduction in the mobility of ejaculated sperm.'),('HP:0012208','Nonmotile sperm','A lack of mobility of ejaculated sperm.'),('HP:0012209','Juvenile myelomonocytic leukemia','Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.'),('HP:0012210','Abnormal renal morphology','Any structural anomaly of the kidney.'),('HP:0012211','Abnormal renal physiology','An abnormal functionality of the kidney.'),('HP:0012212','Abnormal glomerular filtration rate','An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman`s capsules per unit of time.'),('HP:0012213','Decreased glomerular filtration rate','An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman`s capsules per unit of time.'),('HP:0012214','Increased glomerular filtration rate','An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman`s capsules per unit of time.'),('HP:0012215','Testicular microlithiasis','The deposition of calcium phosphate microliths within the seminiferous tubules.'),('HP:0012216','Entrapment neuropathy of suprascapular nerve','An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.'),('HP:0012217','Increased urinary porphobilinogen','Increased concentration of porphobilinogen in the urine.'),('HP:0012218','Alveolar soft part sarcoma','A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.'),('HP:0012219','Erythema nodosum','An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.'),('HP:0012220','Non-caseating epithelioid cell granulomatosis','The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).'),('HP:0012221','Pretibial blistering','A type of blistering that affects the skin of the tibial region.'),('HP:0012222','Arachnoid hemangiomatosis','The presence of multiple hemangiomas in the arachnoid.'),('HP:0012223','Splenic rupture','A breach of the capsule of the spleen.'),('HP:0012224','Circulating immune complexes','Persistence of immune complexes in the blood circulation.'),('HP:0012225','Oligodontia of primary teeth','Reduced number of primary teeth.'),('HP:0012226','Ovarian teratoma','The presence of a teratoma in the ovary.'),('HP:0012227','Urethral stricture','Narrowing of the urethra associated with inflammation or scar tissue.'),('HP:0012228','Tension-type headache','A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.'),('HP:0012229','CSF pleocytosis','An increased white blood cell count in the cerebrospinal fluid.'),('HP:0012230','Rhegmatogenous retinal detachment','A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.'),('HP:0012231','Exudative retinal detachment','A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.'),('HP:0012232','Shortened QT interval','Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).'),('HP:0012233','Intramuscular hematoma','Blood clot formed within muscle tissue following leakage of blood into the tissue.'),('HP:0012234','Agranulocytosis','Marked decrease in the number of granulocytes.'),('HP:0012235','Drug-induced agranulocytosis','A type of agranulocytosis related to ingestion of a specific medication.'),('HP:0012236','Elevated sweat chloride','An increased concentration of chloride in the sweat.'),('HP:0012237','Urocanic aciduria','An increased concentration of urocanic acid in the urine.'),('HP:0012238','Increased circulating chylomicron concentration','Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.'),('HP:0012239','Atransferrinemia','Absence of transferrin, a protein that transports iron, in the blood.'),('HP:0012240','Increased intramyocellular lipid droplets','An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.'),('HP:0012241','Levator palpebrae superioris atrophy','Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.'),('HP:0012242','Superior rectus atrophy','Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.'),('HP:0012243','Abnormal reproductive system morphology','A structural or developmental anomaly of any of the tissues involved in the genital system.'),('HP:0012244','Abnormal sex determination','Anomaly of primary or secondary sexual development or characteristics.'),('HP:0012245','Sex reversal','Development of the reproductive system is inconsistent with the chromosomal sex.'),('HP:0012246','Oculomotor nerve palsy','Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).'),('HP:0012247','Specific anosmia','Anosmia for one particular odor.'),('HP:0012248','Prolonged PR interval','Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).'),('HP:0012249','Abnormal ST segment','An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.'),('HP:0012250','ST segment depression','An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.'),('HP:0012251','ST segment elevation','An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.'),('HP:0012252','Abnormal respiratory system morphology','A structural anomaly of the respiratory system.'),('HP:0012253','Abnormal respiratory epithelium morphology','Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.'),('HP:0012254','Ewing sarcoma','A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.'),('HP:0012255','Dynein arm defect of respiratory motile cilia','An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012256','Absent outer dynein arms','Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012257','Absent inner dynein arms','Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012258','Abnormal axonemal organization of respiratory motile cilia','Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.'),('HP:0012259','Absent inner and outer dynein arms','Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.'),('HP:0012260','Abnormal central microtubular pair morphology of respiratory motile cilia','A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.'),('HP:0012261','Abnormal respiratory motile cilium physiology','Any functional anomaly of the respiratory motile cilia.'),('HP:0012262','Abnormal ciliary motility','Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.'),('HP:0012263','Immotile cilia',''),('HP:0012264','Absent central microtubular pair morphology of respiratory motile cilia','Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.'),('HP:0012265','Ciliary dyskinesia','A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.'),('HP:0012266','T-wave alternans','A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.'),('HP:0012267','Absent respiratory ciliary axoneme radial spokes','Absence of the radial spokes of the axoneme of the respiratory cilium.'),('HP:0012268','Myxoid liposarcoma','A liposarcoma that contains myxomatous tissue.'),('HP:0012269','Abnormal muscle glycogen content','Any anomaly in the amount of glycogen in muscle tissue.'),('HP:0012270','Decreased muscle glycogen content','A decreased amount of glycogen in muscle tissue.'),('HP:0012271','Episodic upper airway obstruction','Intermittent episodes of increased resistance to the passage of air in the upper airway.'),('HP:0012272','J wave','The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.'),('HP:0012273','Increased carotid artery intimal medial thickness','An increase in the combined thickness of the intima and media of the carotid artery.'),('HP:0012274','Autosomal dominant inheritance with paternal imprinting','A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.'),('HP:0012275','Autosomal dominant inheritance with maternal imprinting','A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.'),('HP:0012276','Digital flexor tenosynovitis','Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.'),('HP:0012277','Hypoglycinemia','An abnormally reduced concentration of glycine in the blood.'),('HP:0012278','Abnormal circulating serine concentration','Any deviation from the normal concentration of serine in the blood circulation.'),('HP:0012279','Hyposerinemia','Reduced concentration of serine in the blood.'),('HP:0012280','Hepatic amyloidosis','A form of amyloidosis that affects the liver.'),('HP:0012281','Chylous ascites','Extravasation of chyle into the peritoneal cavity.'),('HP:0012282','Morbilliform rash','An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.'),('HP:0012283','Small distal femoral epiphysis','Reduced size of the Distal epiphysis of femur.'),('HP:0012284','Small proximal tibial epiphyses','Reduced size of the proximal epiphysis of the tibia.'),('HP:0012285','Abnormal hypothalamus physiology','An abnormal functionality of the hypothalamus.'),('HP:0012286','Abnormal hypothalamus morphology','Any structural anomaly of the hypothalamus.'),('HP:0012287','Hypothalamic luteinizing hormone-releasing hormone deficiency','Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.'),('HP:0012288','Neoplasm of head and neck','A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.'),('HP:0012289','Facial neoplasm','A tumor (abnormal growth of tissue) of the face.'),('HP:0012290','Mouth neoplasm','A tumor (abnormal growth of tissue) of the mouth.'),('HP:0012291','obsolete Tracheal neoplasm',''),('HP:0012292','Fusion of gums','A congenital defect with an abnormal joining of the gums of the upper and lower jaw.'),('HP:0012293','Abnormal genital pigmentation','An abnormal pigmentation pattern of the external genitalia.'),('HP:0012294','Abnormality of the occipital bone','Abnormality of the occipital bone of the skull.'),('HP:0012295','Slender middle phalanx of finger','Reduced diameter of the middle phalanx of finger.'),('HP:0012296','Slender distal phalanx of finger','Reduced diameter of the distal phalanx of finger.'),('HP:0012297','Slender proximal phalanx of finger','Reduced diameter of the proximal phalanx of finger.'),('HP:0012298','Long middle phalanx of finger','Increased length of the middle phalanx of finger.'),('HP:0012299','Long distal phalanx of finger','Increased length of the distal phalanx of finger.'),('HP:0012300','Ureteral agenesis','Failure of the ureter to undergo development.'),('HP:0012301','Type II transferrin isoform profile','Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.'),('HP:0012302','Herpes simplex encephalitis','A severe virus infection of the central nervous system by the herpes simplex virus (HSV).'),('HP:0012303','Abnormal aortic arch morphology','An anomaly of the arch of aorta.'),('HP:0012304','Hypoplastic aortic arch','Underdevelopment of the arch of aorta.'),('HP:0012305','Coarctation of the descending aortic arch','Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.'),('HP:0012306','Abnormal rib ossification','An anomaly of the process of rib bone formation.'),('HP:0012307','Spatulate ribs','Ribs that are increased in width and taper to the posterior ends.'),('HP:0012308','Decreased serum complement C9','A reduced level of the complement component C9 in circulation.'),('HP:0012309','Cutaneous amyloidosis','The presence of amyloid deposition in the superficial dermis.'),('HP:0012310','Abnormal monocyte count','An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.'),('HP:0012311','Monocytosis','An increased number of circulating monocytes.'),('HP:0012312','Monocytopenia','An decreased number of circulating monocytes.'),('HP:0012313','Heberden`s node','Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.'),('HP:0012314','Bouchard`s node','Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.'),('HP:0012315','Histiocytoma','A neoplasm containing histiocytes.'),('HP:0012316','Fibrous tissue neoplasm','Any neoplasm composed of fibrous tissue.'),('HP:0012317','Sacroiliac arthritis','Inflammation of the sacroiliac joint, generally accompanied by lower back pain.'),('HP:0012318','Occipital neuralgia','A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.'),('HP:0012319','Absent pigmentation of the abdomen','Lack of skin pigmentation (coloring) of the abdomen.'),('HP:0012320','Absent pigmentation of the limbs','Lack of skin pigmentation (coloring) of the arms and legs.'),('HP:0012321','D-2-hydroxyglutaric aciduria','An increased concentration of 2-hydroxyglutaric acid in the urine.'),('HP:0012322','Perifolliculitis','Inflammation surrounding hair follicles.'),('HP:0012323','Sleep myoclonus','Myoclonus that occurs during the initial phases of sleep.'),('HP:0012324','Myeloid leukemia','A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.'),('HP:0012325','Chronic myelomonocytic leukemia','A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.'),('HP:0012326','Abnormal celiac artery morphology','An anomaly of the celiac artery.'),('HP:0012327','Celiac artery compression','Compression of the celiac artery.'),('HP:0012328','Cementoma','An odontogenic tumor of the cementum of tooth.'),('HP:0012329','Tufted angioma','A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.'),('HP:0012330','Pyelonephritis','An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.'),('HP:0012331','Abnormal autonomic nervous system morphology','A structural abnormality of the autonomic nervous system.'),('HP:0012332','Abnormal autonomic nervous system physiology','A functional abnormality of the autonomic nervous system.'),('HP:0012333','Abnormal sudomotor regulation','An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.'),('HP:0012334','Extrahepatic cholestasis','Impairment of bile flow due to obstruction in large bile ducts outside the liver.'),('HP:0012335','Abnormality of folate metabolism','An abnormality of the metabolism of folic acid, which is also known as vitamin B9.'),('HP:0012336','obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration',''),('HP:0012337','Abnormal homeostasis','An anomaly in the processes involved in the maintenance of an internal equilibrium.'),('HP:0012338','Abnormal energy expenditure','Any anomaly in the utilization of energy (calories).'),('HP:0012339','Increased resting energy expenditure','An increase in the number of calories used per unit time.'),('HP:0012340','Decreased resting energy expenditure','A reduction in the number of calories used per unit time.'),('HP:0012341','Microprolactinoma','A pituitary prolactin cell adenoma of less than 10 mm diameter.'),('HP:0012342','Macroprolactinoma','A pituitary prolactin cell adenoma of more than 10 mm diameter.'),('HP:0012343','Decreased serum ferritin','Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.'),('HP:0012344','Morphea','Isolated patches of hardened skin (scleroderma).'),('HP:0012345','Abnormal glycosylation','An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.'),('HP:0012346','Abnormal protein glycosylation','An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.'),('HP:0012347','Abnormal protein N-linked glycosylation','An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.'),('HP:0012348','Decreased galactosylation of N-linked protein glycosylation','A reduction in the amount of galactose residues of N-glycans.'),('HP:0012349','Abnormal sialylation of N-linked protein glycosylation','An anomaly of the addition of sialic acids to N-linked glycans.'),('HP:0012350','Decreased sialylation of N-linked protein glycosylation','Decreased addition of sialic acids to N-linked glycans.'),('HP:0012351','Increased sialylation of N-linked protein glycosylation','Increased addition of sialic acids to N-linked glycans.'),('HP:0012352','Abnormal fucosylation of protein N-linked glycosylation','An anomaly of the addition of fucose sugar units to N-linked glycans.'),('HP:0012353','Decreased fucosylation of N-linked protein glycosylation','Decreased addition of fucose sugar units to N-linked glycans.'),('HP:0012354','Increased fucosylation of N-linked protein glycosylation','Increased addition of fucose sugar units to N-linked glycans.'),('HP:0012355','Abnormal mannosylation of N-linked protein glycosylation','An anomaly of the addition of mannose to N-linked glycans.'),('HP:0012356','Decreased mannosylation of N-linked protein glycosylation','Reduced addition of mannose to N-linked glycans.'),('HP:0012357','Increased mannosylation of N-linked protein glycosylation','Increased addition of mannose to N-linked glycans.'),('HP:0012358','Abnormal protein O-linked glycosylation','An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.'),('HP:0012359','Abnormal fucosylation of O-linked protein glycosylation','An anomaly of the addition of fucose sugar units to O-linked glycans.'),('HP:0012360','Decreased fucosylation of O-linked protein glycosylation','A reduction of the addition of fucose sugar units to O-linked glycans.'),('HP:0012361','Increased fucosylation of O-linked protein glycosylation','Increased addition of fucose sugar units to O-linked glycans.'),('HP:0012362','Abnormal sialylation of O-linked protein glycosylation','An anomaly of the addition of sialic acids to O-linked glycans.'),('HP:0012363','Decreased sialylation of O-linked protein glycosylation','An reduced addition of sialic acids to O-linked glycans.'),('HP:0012364','Decreased urinary potassium','A decreased concentration of potassium(1+) in the urine.'),('HP:0012365','Hypophosphaturia','An abnormally decreased phosphate concentration in the urine.'),('HP:0012366','Basilar invagination','Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain`s line) or the tip of the dens is greater than 7 mm above McGregor`s line (the back of the hard palate to the lowest point of the occipital squama).'),('HP:0012367','Extra fontanelles','Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.'),('HP:0012368','Flat face','Absence of concavity or convexity of the face when viewed in profile.'),('HP:0012369','Abnormality of malar bones','An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.'),('HP:0012370','Prominence of the zygomatic bone','Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the `cheek bones`.'),('HP:0012371','Hyperplasia of midface','Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face'),('HP:0012372','Abnormal eye morphology','A structural anomaly of the globe of the eye, or bulbus oculi.'),('HP:0012373','Abnormal eye physiology','A functional anomaly of the eye.'),('HP:0012374','obsolete Abnormal globe morphology',''),('HP:0012375','Chemosis','Edema (swelling) of the bulbar conjunctiva.'),('HP:0012376','Microphakia','Abnormal smallness of the lens.'),('HP:0012377','Hemianopia','Partial or complete loss of vision in one half of the visual field of one or both eyes.'),('HP:0012378','Fatigue','A subjective feeling of tiredness characterized by a lack of energy and motivation.'),('HP:0012379','Abnormal enzyme/coenzyme activity','An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.'),('HP:0012380','Reduced carnitine O-palmitoyltransferase level','Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.'),('HP:0012381','Delayed self-feeding during toddler years','A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).'),('HP:0012382','Left-to-right shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.'),('HP:0012383','Bidirectional shunt','Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.'),('HP:0012384','Rhinitis','Inflammation of the nasal mucosa with nasal congestion.'),('HP:0012385','Camptodactyly','The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.'),('HP:0012386','Absent hallux','Aplasia of the hallux, that is, a development defect such that the big toe does not develop.'),('HP:0012387','Bronchitis','Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.'),('HP:0012388','Acute bronchitis','Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.'),('HP:0012389','Appendicular hypotonia','Muscular hypotonia of one or more limbs.'),('HP:0012390','Anal fissure','A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.'),('HP:0012391','Hyporeflexia of upper limbs','Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.'),('HP:0012392','Jaw hyporeflexia','Reduced intensity of muscle tendon reflexes in jaw.'),('HP:0012393','Allergy','An allergy is an immune response or reaction to substances that are usually not harmful.'),('HP:0012394','Iodine contrast allergy','Allergy to iodine contrast media used in radiological studies.'),('HP:0012395','Seasonal allergy','An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.'),('HP:0012396','Biliary dyskinesia','A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.'),('HP:0012397','Aortic atherosclerotic lesion','The presence of atheromas or atherosclerotic plaques in the aorta.'),('HP:0012398','Peripheral edema','An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.'),('HP:0012399','Pressure ulcer','A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.'),('HP:0012400','Abnormal aldolase level','An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.'),('HP:0012401','Abnormal urine alpha-ketoglutarate concentration','A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.'),('HP:0012402','Increased urine alpha-ketoglutarate concentration','A greater than normal concentration of 2-oxoglutaric acid in the urine.'),('HP:0012403','Decreased urine alpha-ketoglutarate concentration','A lower than normal concentration of 2-oxoglutaric acid in the urine.'),('HP:0012404','Abnormal urine citrate concentration','A deviation from normal of the concentration of citrate(3-) in the urine.'),('HP:0012405','Hypocitraturia','A lower than normal concentration of citrate(3-) in the urine.'),('HP:0012406','Hypercitraturia','A greater than normal concentration of citrate(3-) in the urine.'),('HP:0012407','Scissor gait','A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.'),('HP:0012408','Medullary nephrocalcinosis','The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).'),('HP:0012409','Cortical nephrocalcinosis','The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).'),('HP:0012410','Pure red cell aplasia','A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.'),('HP:0012411','Premature pubarche','The onset of growth of pubic hair at an earlier age than normal.'),('HP:0012412','Premature adrenarche','Onset of adrenarche at an earlier age than usual.'),('HP:0012413','Notched primary central incisor','The presence of a V-shaped indentation (notch) in the primary central incisor.'),('HP:0012414','Duodenal atrophy','Wasting or decrease in size of all or part of the duodenum.'),('HP:0012415','Abnormal blood gas level','An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.'),('HP:0012416','Hypercapnia','Abnormally elevated blood carbon dioxide (CO2) level.'),('HP:0012417','Hypocapnia','Abnormally reduced blood carbon dioxide (CO2) level.'),('HP:0012418','Hypoxemia','An abnormally low level of blood oxygen.'),('HP:0012419','Hyperoxemia','An abnormally high level of blood oxygen.'),('HP:0012420','Meconium stained amniotic fluid','Amniotic fluid containing the earliest stools of a mammalian infant.'),('HP:0012421','Congenital absence of foreskin','Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.'),('HP:0012422','Villous hypertrophy of choroid plexus','Overgrowth of the choroid plexus.'),('HP:0012423','Colonic inertia','The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.'),('HP:0012424','Chorioretinitis','An inflammation of the choroid and retina.'),('HP:0012425','Stercoral ulcer','An ulcer of the colon due to pressure and irritation from retained fecal masses.'),('HP:0012426','Optic disc drusen','Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.'),('HP:0012427','Excessive femoral anteversion','An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.'),('HP:0012428','Prominent calcaneus','Protruding heel bone, or calcaneus.'),('HP:0012429','Aplasia/Hypoplasia of the cerebral white matter','Absence or underdevelopment of the cerebral white matter.'),('HP:0012430','Cerebral white matter hypoplasia','Underdevelopment of the cerebral white matter.'),('HP:0012431','Episodic fatigue','Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.'),('HP:0012432','Chronic fatigue','Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.'),('HP:0012433','Abnormal social behavior','An abnormality of actions or reactions of a person taking place during interactions with others.'),('HP:0012434','Delayed social development','A failure to meet one or more age-related milestones of social behavior.'),('HP:0012435','Ventral shortening of foreskin','Reduction in length of the ventral (lower) skin of prepuce of penis.'),('HP:0012436','Nonocclusive coronary artery atherosclerosis','Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.'),('HP:0012437','Abnormal gallbladder morphology','A structural anomaly of the gallbladder.'),('HP:0012438','Abnormal gallbladder physiology','A functional anomaly of the gallbladder.'),('HP:0012439','Abnormal biliary tract physiology','A functional abnormality of the biliary tree.'),('HP:0012440','Abnormal biliary tract morphology','A structural abnormality of the biliary tree.'),('HP:0012441','Sphincter of Oddi dyskinesia','Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.'),('HP:0012442','Gallbladder dyskinesia','Reduced motility of the gallbladder with reduced emptying fraction.'),('HP:0012443','Abnormality of brain morphology','A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.'),('HP:0012444','Brain atrophy','Partial or complete wasting (loss) of brain tissue that was once present.'),('HP:0012446','Decreased CSF 5-methyltetrahydrofolate concentration','A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.'),('HP:0012447','Abnormal myelination','Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.'),('HP:0012448','Delayed myelination','Delayed myelination.'),('HP:0012449','Sacroiliac joint synovitis','Inflammation of the synovial membrane of the sacroiliac joint.'),('HP:0012450','Chronic constipation','Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.'),('HP:0012451','Acute constipation','Constipation of sudden onset and lasting for less than three months.'),('HP:0012452','Restless legs','A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).'),('HP:0012453','Bilateral wrist flexion contracture','A chronic loss of wrist joint motion on the right and left sides.'),('HP:0012454','Unilateral wrist flexion contracture','A chronic loss of wrist joint motion on one side only.'),('HP:0012455','obsolete Large artery calcification',''),('HP:0012456','Medial arterial calcification','Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.'),('HP:0012457','Medial calcification of medium-sized arteries','Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.'),('HP:0012458','Medial calcification of small arteries','Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.'),('HP:0012459','Hypnic headache','A headache disorder that occurs exclusively at night, waking the affected individual from sleep.'),('HP:0012460','Dysmorphic inferior cerebellar vermis','A structural anomaly of the inferior portion of the vermis of cerebellum.'),('HP:0012461','Bacteriuria','The presence of bacteria in the urine.'),('HP:0012462','Chin myoclonus','Involuntary and irregular twitches of the chin.'),('HP:0012463','Elevated transferrin saturation','An above normal level of saturation of serum transferrin with iron.'),('HP:0012464','Decreased transferrin saturation','A below normal level of saturation of serum transferrin with iron.'),('HP:0012465','Elevated hepatic iron concentration','An increased level of iron in liver tissues.'),('HP:0012466','Chronic respiratory acidosis','Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).'),('HP:0012467','Acute respiratory acidosis','Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).'),('HP:0012468','Chronic acidosis','Longstanding abnormal acid accumulation or depletion of base.'),('HP:0012469','Infantile spasms','Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).'),('HP:0012470','Setting-sun eye phenomenon','An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.'),('HP:0012471','Thick vermilion border','Increased width of the skin of vermilion border region of upper lip.'),('HP:0012472','Eclabion','A turning outward of the lip or lips, that is, eversion of the lips.'),('HP:0012473','Tongue atrophy','Wasting of the tongue.'),('HP:0012474','Carotid artery occlusion','Complete obstruction of a carotid artery.'),('HP:0012475','Decreased circulating level of specific antibody','The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.'),('HP:0012476','Decreased specific pneumococcal antibody level','The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.'),('HP:0012477','Vocal tremor','A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.'),('HP:0012478','Temporomandibular joint ankylosis','Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.'),('HP:0012479','Temporomandibular joint crepitus','Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.'),('HP:0012480','Abnormality of cerebral veins','An anomaly of cerebral veins.'),('HP:0012481','Cerebral venous angioma','A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.'),('HP:0012482','Frontal venous angioma','A venous angioma of the frontal lobe of the brain.'),('HP:0012483','Abnormal alpha granules','Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.'),('HP:0012484','Abnormal dense granules','Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium , histamine and serotonin.'),('HP:0012485','Abnormal surface-connected open canalicular system','An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.'),('HP:0012486','Myelitis','Inflammation of the spinal cord.'),('HP:0012487','Cerebellopontine angle arachnoid cyst','An arachnoid cyst located at the margin of the cerebellum and pons.'),('HP:0012488','Intraventricular arachnoid cyst','An arachnoid cyst located within the ventricular system.'),('HP:0012489','Suprasellar arachnoid cyst','An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.'),('HP:0012490','Panniculitis','Inflammation of adipose tissue.'),('HP:0012491','Abnormal dense tubular system','An anomaly of the intracellular membrane complexes known as the dense tubular system.'),('HP:0012492','Cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of a cerebral artery.'),('HP:0012493','Middle cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.'),('HP:0012494','Anterior cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.'),('HP:0012495','Posterior cerebral artery stenosis','Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.'),('HP:0012496','Reduced maximal inspiratory pressure','A decrease in the maximum amount of negative pressure a person can generate during an inhalation.'),('HP:0012497','Reduced maximal expiratory pressure','A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.'),('HP:0012498','Nuchal cord','A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.'),('HP:0012499','Descending aortic dissection','A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.'),('HP:0012500','Verrucous papule','A wartlike (with multiple small elevated projections) papule.'),('HP:0012501','Abnormality of the brainstem white matter','An anomaly of the white matter of brainstem.'),('HP:0012502','Abnormality of the internal capsule','An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.'),('HP:0012503','Abnormality of the pituitary gland','An anomaly of the pituitary gland.'),('HP:0012504','Abnormal size of pituitary gland','A deviation from the normal size of the pituitary gland.'),('HP:0012505','Enlarged pituitary gland','An abnormally increased size of the pituitary gland.'),('HP:0012506','Small pituitary gland','An abnormally decreased size of the pituitary gland.'),('HP:0012507','Weakness of orbicularis oculi muscle','Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.'),('HP:0012508','Metamorphopsia','A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.'),('HP:0012509','Reduced thyroxin-binding globulin','An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3`-triiodothyronine (T3) in the bloodstream.'),('HP:0012510','Extra-axial cerebrospinal fluid accumulation','An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.'),('HP:0012511','Temporal optic disc pallor','A pale yellow discoloration of the temporal (lateral) portion of the optic disc.'),('HP:0012512','Diffuse optic disc pallor','A pale yellow discoloration of the entire optic disc.'),('HP:0012513','Upper limb pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.'),('HP:0012514','Lower limb pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.'),('HP:0012515','Hip flexor weakness','Reduced ability to flex the femur, that is, to pull the knee upward.'),('HP:0012516','Tetralogy of Fallot with pulmonary atresia','An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.'),('HP:0012517','Reduced catalase level','An abnormally decreased amount of catalase level.'),('HP:0012518','Abnormal circle of Willis morphology','An anomaly of the circle of Willis, also known as the cerebral arterial circle.'),('HP:0012519','Hypoplastic posterior communicating artery','Underdeveloped posterior communicating artery.'),('HP:0012520','Perivascular spaces','Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.'),('HP:0012521','Optic nerve aplasia','Congenital absence of the optic nerve.'),('HP:0012522','Spider hemangioma','A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.'),('HP:0012523','Oral aversion','Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).'),('HP:0012524','Abnormal platelet shape','A deviation from the normal discoid platelet shape.'),('HP:0012525','Abnormal alpha granule distribution','An anomalous location and arrangement of platelet alpha granules.'),('HP:0012526','Absence of alpha granules','A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.'),('HP:0012527','Abnormal alpha granule content','A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.'),('HP:0012528','Abnormal number of alpha granules','A deviation from the normal count of alpha granules per thrombocyte.'),('HP:0012529','Abnormal dense granule content','A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.'),('HP:0012530','Abnormal number of dense granules','A deviation from the normal count of dense granules per thrombocyte.'),('HP:0012531','Pain','An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.'),('HP:0012532','Chronic pain','Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.'),('HP:0012533','Allodynia','Pain due to a stimulus that does not normally provoke pain.'),('HP:0012534','Dysesthesia','Abnormal sensations with no apparent physical cause that are painful or unpleasant.'),('HP:0012535','Abnormal synaptic transmission','An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.'),('HP:0012536','Maternal anticardiolipin antibody positive','The presence of circulating autoantibodies to anticardiolipin in the mother.'),('HP:0012537','Food intolerance','A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.'),('HP:0012538','Gluten intolerance','A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.'),('HP:0012539','Non-Hodgkin lymphoma','A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.'),('HP:0012540','Axillary epidermoid cyst','An epidermoid cyst in the armpit.'),('HP:0012541','Cephalohematoma','Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.'),('HP:0012542','Onychauxis','Thickened nails without deformity.'),('HP:0012543','Hemosiderinuria','The presence of hemosiderin in the urine.'),('HP:0012544','Elevated aldolase level','An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.'),('HP:0012545','Reduced aldolase level','An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.'),('HP:0012546','Skewed maternal X inactivation','A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.'),('HP:0012547','Abnormal involuntary eye movements','Anomalous movements of the eyes that occur without the subject wanting them to happen.'),('HP:0012548','Fatty replacement of skeletal muscle','Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers'),('HP:0012549','Conjunctival lipoma','A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.'),('HP:0012550','Colonic varices','The presence of varices (enlarged and convoluted blood vessels) in the colon.'),('HP:0012551','Absent neutrophil specific granules','Lack of specific granules in neutrophils.'),('HP:0012552','Increased neutrophil nuclear projections','Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.'),('HP:0012553','Hypoplastic thumbnail','A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.'),('HP:0012554','Absent thumbnail','Absence of thumb nail.'),('HP:0012555','Absent nail of hallux','Absent nail of big toe.'),('HP:0012556','Hyperbetaalaninemia','Increased concentration of beta-alanine in the blood.'),('HP:0012557','EEG with centrotemporal focal spike waves','EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.'),('HP:0012558','Abnormal T3/T4 ratio','A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.'),('HP:0012559','Increased T3/T4 ratio','A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.'),('HP:0012560','Decreased T3/T4 ratio','A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.'),('HP:0012561','Unicuspid aortic valve','The presence of an aortic valve with one instead of the normal three cusps (flaps).'),('HP:0012562','Premature epimetaphyseal fusion in hand','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012563','Premature epimetaphyseal fusion in foot','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012564','Premature epimetaphyseal fusion in tibia','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012565','Premature epimetaphyseal fusion in fibula','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012566','Premature epimetaphyseal fusion in radius','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012567','Premature epimetaphyseal fusion in ulna','Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.'),('HP:0012568','Lower eyelid edema','Edema in the region of the Lower eyelid.'),('HP:0012569','Delayed menarche','First period after the age of 15 years.'),('HP:0012570','Synovial sarcoma','A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.'),('HP:0012571','Ureter fissus','A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.'),('HP:0012572','Ureter duplex','A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.'),('HP:0012573','Global proximal tubulopathy','A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.'),('HP:0012574','Mesangial hypercellularity','Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment.'),('HP:0012575','Abnormal nephron morphology','A structural anomaly of the nephron.'),('HP:0012576','Glomerular C3 deposition','The presence of complement 3 deposits in the glomerulus.'),('HP:0012577','Thin glomerular basement membrane','Reduction in thickness of the basal lamina of the glomerulus of the kidney.'),('HP:0012578','Membranous nephropathy','A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.'),('HP:0012579','Minimal change glomerulonephritis','The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.'),('HP:0012580','Calcium phosphate nephrolithiasis','The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.'),('HP:0012581','Solitary renal cyst','An isolated cyst of the kidney.'),('HP:0012582','Bilateral renal dysplasia','A bilateral form of developmental dysplasia of the kidney.'),('HP:0012583','Unilateral renal hypoplasia','One sided hypoplasia of the kidney.'),('HP:0012584','Bilateral renal hypoplasia','Two sided hypoplasia of the kidney.'),('HP:0012585','Renal atrophy','Atrophy of the kidney.'),('HP:0012586','Bilateral renal atrophy','A two-sided form of atrophy of the kidney.'),('HP:0012587','Macroscopic hematuria','Hematuria that is visible upon inspection of the urine.'),('HP:0012588','Steroid-resistant nephrotic syndrome','A form of nephrotic syndrome that does not respond to treatment with steroid medication.'),('HP:0012589','Multidrug-resistant nephrotic syndrome','A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.'),('HP:0012590','Abnormal urine output','An abnormal amount of urine production.'),('HP:0012591','Abnormal urinary electrolyte concentration','An abnormality in the concentration of electrolytes in the urine.'),('HP:0012592','Albuminuria','Increased concentration of albumin in the urine.'),('HP:0012593','Nephrotic range proteinuria','Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.'),('HP:0012594','Microalbuminuria','The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day).'),('HP:0012595','Mild proteinuria','Mildly increased levels of protein in the urine (150-500 mg per day in adults).'),('HP:0012596','Moderate proteinuria','Moderately increased levels of protein in the urine (500-1000 mg per day in adults).'),('HP:0012597','Heavy proteinuria','Severely increased levels of protein in the urine (1000-3000 mg per day in adults).'),('HP:0012598','Abnormal urine potassium concentration','An abnormal concentration of potassium(1+) in the urine.'),('HP:0012599','Abnormal urine phosphate concentration','An abnormal phosphate concentration in the urine.'),('HP:0012600','Abnormal urine chloride concentration','An abnormal concentration of chloride in the urine.'),('HP:0012601','Hypochloriduria','An decreased concentration of chloride in the urine.'),('HP:0012602','Renal chloride wasting','High urine chloride in the presence of hypochloridemia.'),('HP:0012603','Abnormal urine sodium concentration','An abnormal concentration of sodium in the urine.'),('HP:0012604','Hyponatriuria','An abnormally decreased sodium concentration in the urine.'),('HP:0012605','Hypernatriuria','An increased concentration of sodium(1+) in the urine.'),('HP:0012606','Renal sodium wasting','An abnormally increased sodium concentration in the urine in the presence of hyponatremia.'),('HP:0012607','Abnormal urine magnesium concentration','An abnormal concentration of magnesium the urine.'),('HP:0012608','Hypermagnesiuria','An increased concentration of magnesium the urine.'),('HP:0012609','Hypomagnesiuria','An decreased concentration of magnesium the urine.'),('HP:0012610','Abnormality of urinary uric acid concentration','Abnormal concentration of urate in the urine.'),('HP:0012611','Increased urinary urate','Elevated concentration of urate in the urine.'),('HP:0012612','Abnormal urinary sulfate concentration','Abnormal concentration of sulfate in the urine.'),('HP:0012613','Increased urinary sulfate','Elevated concentration of SO4(2-), i.e., sulfate, in the urine.'),('HP:0012614','Abnormal urine cytology','An anomalous finding in the examination of the urine for cells.'),('HP:0012615','Cylindruria','The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.'),('HP:0012616','Leukocyte cylindruria','Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.'),('HP:0012617','Erythrocyte cylindruria','Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.'),('HP:0012618','Urachal cyst','A cyst located along the allantois canal.'),('HP:0012619','Multiple bladder diverticula','Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.'),('HP:0012620','Cloacal abnormality','A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.'),('HP:0012621','Persistent cloaca','Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.'),('HP:0012622','Chronic kidney disease','Functional anomaly of the kidney persisting for at least three months.'),('HP:0012623','Stage 1 chronic kidney disease','A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).'),('HP:0012624','Stage 2 chronic kidney disease','A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).'),('HP:0012625','Stage 3 chronic kidney disease','A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).'),('HP:0012626','Stage 4 chronic kidney disease','A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).'),('HP:0012627','Pseudoexfoliation','Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.'),('HP:0012628','Abnormal suspensory ligament of lens morphology','An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.'),('HP:0012629','Phakodonesis','Tremulousness (trembling) of the lens of the eye.'),('HP:0012630','Abnormal trabecular meshwork morphology','An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.'),('HP:0012631','Pigment deposition in the trabecular meshwork','Accumulation of abnormal amounts of pigment within the trabecular meshwork.'),('HP:0012632','Abnormal intraocular pressure','An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.'),('HP:0012633','Asymmetry of intraocular pressure','A difference in the amount of intraocular pressure in the right and left eye.'),('HP:0012634','Iris pigment dispersion','Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.'),('HP:0012635','Iris hypoperfusion','Reduction in the amount of blood flow to the iris.'),('HP:0012636','Retinal vein occlusion','Blockage of the retinal vein.'),('HP:0012637','Renal calcium wasting','High urine calcium in the presence of hypocalcemia.'),('HP:0012638','Abnormal nervous system physiology','A functional anomaly of the nervous system.'),('HP:0012639','Abnormal nervous system morphology','A structural anomaly of the nervous system.'),('HP:0012640','Abnormality of intracranial pressure','A deviation from the norm of the intracranial pressure.'),('HP:0012641','Decreased intracranial pressure','A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.'),('HP:0012642','Cerebellar agenesis','Lack of development of the cerebellum.'),('HP:0012643','Foveal hypopigmentation','Decreased amount of pigmentation in the fovea centralis.'),('HP:0012644','Increased caudate lactate level','An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.'),('HP:0012645','Enlarged peripheral nerve','Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.'),('HP:0012646','Retractile testis','A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.'),('HP:0012647','Abnormal inflammatory response','Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.'),('HP:0012648','Decreased inflammatory response','An abnormal reduction in the inflammatory response to injury or infection.'),('HP:0012649','Increased inflammatory response','A abnormal increase in the inflammatory response to injury or infection.'),('HP:0012650','Perisylvian polymicrogyria','Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.'),('HP:0012651','Abasia','A severe form of gait ataxia such that an affected person cannot walk at all.'),('HP:0012652','Exercise-induced asthma','Asthma attacks following exercise.'),('HP:0012653','Status asthmaticus','Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.'),('HP:0012654','Abnormal CSF dopamine level','Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).'),('HP:0012655','Elevated CSF dopamine level','Increased concentration of dopamine in the cerebrospinal fluid (CSF).'),('HP:0012656','Reduced CSF dopamine level','Decreased concentration of dopamine in the cerebrospinal fluid (CSF).'),('HP:0012657','Abnormal brain positron emission tomography','A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.'),('HP:0012658','Abnormal brain FDG positron emission tomography','An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.'),('HP:0012659','Prefrontal hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.'),('HP:0012660','Thalamic hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.'),('HP:0012661','Hypothalamic hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.'),('HP:0012662','Parietal hypometabolism in FDG PET','Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.'),('HP:0012663','Mildly reduced ejection fraction','A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.'),('HP:0012664','Reduced ejection fraction','A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.'),('HP:0012665','Moderately reduced ejection fraction','A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle.'),('HP:0012666','Severely reduced ejection fraction','A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.'),('HP:0012667','Regional left ventricular wall motion abnormality','An abnormal motion of a segment of the left ventricle during the cardiac cycle.'),('HP:0012668','Vasovagal syncope',''),('HP:0012669','Carotid sinus syncope','An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.'),('HP:0012670','Orthostatic syncope','Syncope following a quick change in position from lying down to standing.'),('HP:0012671','Abulia','Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.'),('HP:0012672','Akinetic mutism','Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.'),('HP:0012673','Aplasia of the upper vagina','A failure to develop of the upper vagina.'),('HP:0012674','Aplasia of the lower vagina','A failure to develop of the lower part of the vagina.'),('HP:0012675','Iron accumulation in brain','An abnormal build up of iron (Fe) in brain tissue.'),('HP:0012676','Copper accumulation in brain','An anomalous build up of copper (Cu) in the brain.'),('HP:0012677','Iron accumulation in globus pallidus','An abnormal build up of iron (Fe) in the globus pallidus.'),('HP:0012678','Iron accumulation in substantia nigra','An anomalous build up of iron (Fe) in the substantia nigra.'),('HP:0012679','Widened interpedicular distance','An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.'),('HP:0012680','Abnormality of the pineal gland','An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.'),('HP:0012681','Abnormality of pineal morphology','A structural abnormality of the pineal gland.'),('HP:0012682','Pineal gland calcification','Accumulation of calcium salts in the pineal gland.'),('HP:0012683','Pineal cyst','A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.'),('HP:0012684','Abnormal pineal volume','An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.'),('HP:0012685','Decreased pineal volume','An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.'),('HP:0012686','Increased pineal volume','An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.'),('HP:0012687','Agenesis of pineal gland','Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.'),('HP:0012688','Abnormality of pineal physiology','A functional abnormality of the pineal gland.'),('HP:0012689','Abnormal pineal melatonin secretion','An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.'),('HP:0012690','T2 hypointense thalamus','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.'),('HP:0012691','Focal T2 hypointense thalamic lesion','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.'),('HP:0012692','Focal T2 hyperintense thalamic lesion','A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.'),('HP:0012693','Abnormal thalamic size','Deviation from the normal range of size of the thalamus.'),('HP:0012694','Enlarged thalamic volume','An increase in the quantity of space occupied by the thalamus.'),('HP:0012695','Decreased thalamic volume','A reduction in the quantity of space occupied by the thalamus.'),('HP:0012696','Abnormal thalamic MRI signal intensity','A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.'),('HP:0012697','Small basal ganglia','Decreased size of the basal ganglia.'),('HP:0012698','Cerebellar gliosis','Focal proliferation of glial cells in the cerebellum.'),('HP:0012699','Anomaly of lower limb diaphyses','A structural abnormality of a diaphysis of the leg.'),('HP:0012700','Abnormal large intestine physiology','A functional anomaly of the large intestine.'),('HP:0012701','Bowel urgency','A sudden, irresistible need to have a bowel movement.'),('HP:0012702','Tenesmus','A repeated, painful urge to defecate without excreting stool.'),('HP:0012703','Abnormal subarachnoid space morphology','Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.'),('HP:0012704','Widened subarachnoid space','An increase in size of the anatomic space between the arachnoid membrane and pia mater.'),('HP:0012705','Abnormal metabolic brain imaging by MRS','An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012706','Elevated brain choline level by MRS','An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012707','Elevated brain lactate level by MRS','An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012708','Reduced brain N-acetyl aspartate level by MRS','A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012709','Abnormal brain choline/creatine ratio by MRS','A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0012710','Ingrown nail','Excessive growth of a nail laterally into the nail fold.'),('HP:0012711','Delayed ossification of vertebral epiphysis','A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.'),('HP:0012712','Mild hearing impairment','The presence of a mild form of hearing impairment.'),('HP:0012713','Moderate hearing impairment','The presence of a moderate form of hearing impairment.'),('HP:0012714','Severe hearing impairment','A severe form of hearing impairment.'),('HP:0012715','Profound hearing impairment','A profound (essentially complete) form of hearing impairment.'),('HP:0012716','Moderate conductive hearing impairment','The presence of a moderate form of conductive hearing impairment.'),('HP:0012717','Severe conductive hearing impairment','A severe form of conductive hearing impairment.'),('HP:0012718','Morphological abnormality of the gastrointestinal tract','Abnormal structure of the gastrointestinal tract.'),('HP:0012719','Functional abnormality of the gastrointestinal tract','Abnormal functionality of the gastrointestinal tract.'),('HP:0012720','Neoplasm of the nose','Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.'),('HP:0012721','Venous malformation','A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.'),('HP:0012722','Heart block','Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.'),('HP:0012723','Sinoatrial block','Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.'),('HP:0012724','Upper eyelid edema','Edema in the region of the upper eyelid.'),('HP:0012725','Cutaneous syndactyly','A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.'),('HP:0012726','Episodic hypokalemia','An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.'),('HP:0012727','Thoracic aortic aneurysm','An abnormal localized widening (dilatation) of the thoracic aorta.'),('HP:0012728','Fusiform descending thoracic aortic aneurysm','A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall'),('HP:0012729','Saccular descending thoracic aortic aneurysm','An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall'),('HP:0012730','Aglossia','Absence of the tongue owing to a developmental abnormality.'),('HP:0012731','Ectopic anterior pituitary gland','Abnormal anatomic location of the anterior pituitary gland.'),('HP:0012732','Anorectal anomaly','An abnormality of the anus or rectum.'),('HP:0012733','Macule','A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.'),('HP:0012734','Ketotic hypoglycemia','Low blood glucose is accompanied by elevated levels of ketone bodies in the body.'),('HP:0012735','Cough','A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.'),('HP:0012736','Profound global developmental delay','A profound delay in the achievement of motor or mental milestones in the domains of development of a child.'),('HP:0012737','Small intestinal polyp','A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.'),('HP:0012738','Agenesis of canine','Agenesis of canine tooth.'),('HP:0012739','Agenesis of the small intestine','Failure to develop of the small intestine.'),('HP:0012740','Papilloma','A tumor of the skin or mucous membrane with finger-like projections.'),('HP:0012741','Unilateral cryptorchidism','Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.'),('HP:0012742','Thin fingernail','Fingernail that appears thin when viewed on end.'),('HP:0012743','Abdominal obesity','Excessive fat around the stomach and abdomen.'),('HP:0012744','Femoral aplasia','Failure of the femur to develop.'),('HP:0012745','Short palpebral fissure','Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.'),('HP:0012746','Thin toenail','Toenail that appears thin when viewed on end.'),('HP:0012747','Abnormal brainstem MRI signal intensity','A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.'),('HP:0012748','Focal T2 hyperintense brainstem lesion','A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.'),('HP:0012749','Focal T2 hypointense brainstem lesion','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.'),('HP:0012750','T2 hypointense brainstem','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.'),('HP:0012751','Abnormal basal ganglia MRI signal intensity','A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.'),('HP:0012752','Focal T2 hypointense basal ganglia lesion','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.'),('HP:0012753','T2 hypointense basal ganglia','A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.'),('HP:0012754','CNS hypermyelination','Increased amount of myelin in the central nervous system.'),('HP:0012755','Enlarged brainstem','Abnormal increase in size of the brainstem.'),('HP:0012756','CSF polymorphonuclear pleocytosis','An increased polymorphonuclear cell count in the cerebrospinal fluid.'),('HP:0012757','Abnormal neuron morphology','A structural anomaly of a neuron.'),('HP:0012758','Neurodevelopmental delay',''),('HP:0012759','Neurodevelopmental abnormality','A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.'),('HP:0012760','Impaired social reciprocity','A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.'),('HP:0012761','Absent mastoid','A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.'),('HP:0012762','Cerebral white matter atrophy','The presence of atrophy (wasting) of the cerebral white matter.'),('HP:0012763','Paroxysmal dyspnea','A sudden attack of dyspnea that occurs while the affected person is at rest.'),('HP:0012764','Orthopnea','A sensation of breathlessness in the recumbent position, relieved by sitting or standing.'),('HP:0012765','Widened cerebellar subarachnoid space','An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.'),('HP:0012766','Widened cerebral subarachnoid space','An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.'),('HP:0012767','Abnormal placental size','A deviation from normal size of the placenta.'),('HP:0012768','Neonatal asphyxia','Respiratory failure in the newborn.'),('HP:0012769','Abnormal arm span','A deviation from normal of the length of the arm span (length from one end of an individual`s arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)'),('HP:0012770','Reduced arm span','Decreased length of the arm span (length from one end of an individual`s arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).'),('HP:0012771','Increased arm span','Increased length of the arm span (length from one end of an individual`s arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).'),('HP:0012772','Abnormal upper to lower segment ratio','A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.'),('HP:0012773','Reduced upper to lower segment ratio','Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.'),('HP:0012774','Increased upper to lower segment ratio','Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.'),('HP:0012775','Stellate iris','A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.'),('HP:0012776','Abnormal ciliary body morphology','A structural anomaly of the ciliary body.'),('HP:0012777','Retinal neoplasm','A tumor (abnormal growth of tissue) of the retina.'),('HP:0012778','Retinal astrocytic hamartoma','A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.'),('HP:0012779','Transient hearing impairment','Hearing loss that occurs acutely and resolves completely.'),('HP:0012780','Neoplasm of the ear','A tumor (abnormal growth of tissue) of the ear.'),('HP:0012781','Mid-frequency hearing loss','A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).'),('HP:0012782','Perilobar nephrogenic rest','A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.'),('HP:0012783','Intralobar nephrogenic rest','A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.'),('HP:0012784','Perinephritis','Inflammation of the connective and adipose tissues surrounding the kidney.'),('HP:0012785','Flexion contracture of finger','Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.'),('HP:0012786','Recurrent cystitis','Repeated infections of the urinary bladder.'),('HP:0012787','Recurrent pyelonephritis','Repeated episodes of pyelonephritis.'),('HP:0012788','Reticulate pigmentation of oral mucosa','A net-like pattern of increased pigmentation of the oral cavity.'),('HP:0012789','Hypoplasia of the calcaneus','Underdevelopment of the heel bone.'),('HP:0012790','Abnormal intramembranous ossification','An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.'),('HP:0012791','Abnormal humeral ossification','An anomaly of the process of formation of bone in the humerus.'),('HP:0012792','Absent ossification of thoracic vertebral bodies','A lack of bone mineralization of one or more body of thoracic vertebra.'),('HP:0012793','Kinked brainstem','A kinked appearance of the brainstem, i.e., an exaggerated flexure.'),('HP:0012794','Periventricular white matter hypodensities','Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.'),('HP:0012795','Abnormality of the optic disc','A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.'),('HP:0012796','Increased cup-to-disc ratio','An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.'),('HP:0012797','Lymphatic vessel neoplasm','A benign or malignant neoplasm arising from the lymphatic vessels.'),('HP:0012798','Pulmonary lymphangiomyomatosis','Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.'),('HP:0012799','Unilateral facial palsy','One-sided weakness of the muscles of facial expression and eye closure.'),('HP:0012800','Accessory cranial suture','A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.'),('HP:0012801','Narrow jaw','Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).'),('HP:0012802','Broad jaw','Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).'),('HP:0012803','Anisometropia','Inequality of refractive power of the two eyes.'),('HP:0012804','Corneal ulceration','Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.'),('HP:0012805','Iris transillumination defect','Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.'),('HP:0012806','Proboscis','A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.'),('HP:0012807','High insertion of columella','Insertion of the posterior columella superior to the nasal base.'),('HP:0012808','Abnormal nasal base','An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.'),('HP:0012809','Narrow nasal base','Decreased distance between the attachments of the alae nasi to the face.'),('HP:0012810','Wide nasal base','Increased distance between the attachments of the alae nasi to the face.'),('HP:0012811','Wide nasal ridge','Increased width of the nasal ridge.'),('HP:0012812','Fullness of paranasal tissue','Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.'),('HP:0012813','Unilateral breast hypoplasia','Underdevelopment of the breast on one side only.'),('HP:0012814','Bilateral breast hypoplasia','Underdevelopment of the breast on both sides.'),('HP:0012815','Hypoplastic female external genitalia','Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).'),('HP:0012816','Right ventricular noncompaction cardiomyopathy','A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.'),('HP:0012817','Noncompaction cardiomyopathy','A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.'),('HP:0012818','Biventricular noncompaction cardiomyopathy','Noncompaction cardiomyopathy that affects both ventricles.'),('HP:0012819','Myocarditis','Inflammation of the myocardium.'),('HP:0012820','Bilateral vocal cord paralysis','A loss of the ability to move the vocal fold on both sides.'),('HP:0012821','Unilateral vocal cord paresis','Decreased strength of the vocal fold on one side.'),('HP:0012822','Bilateral vocal cord paresis','Decreased strength of the vocal fold on both sides.'),('HP:0012823','Clinical modifier','This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.'),('HP:0012824','Severity','The intensity or degree of a manifestation.'),('HP:0012825','Mild','Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.'),('HP:0012826','Moderate','Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.'),('HP:0012827','Borderline','Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.'),('HP:0012828','Severe','Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.'),('HP:0012829','Profound','Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.'),('HP:0012830','Position','The anatomical localization of the specified phenotypic abnormality.'),('HP:0012831','Laterality','The localization with respect to the side of the body of the specified phenotypic abnormality.'),('HP:0012832','Bilateral','Being present on both sides of the body.'),('HP:0012833','Unilateral','Being present on only the left or only the right side of the body.'),('HP:0012834','Right','Being located on the right side of the body.'),('HP:0012835','Left','Being located on the left side of the body.'),('HP:0012836','Spatial pattern','The pattern by which a phenotype affects one or more regions of the body.'),('HP:0012837','Generalized','Affecting all regions without specificity of distribution.'),('HP:0012838','Localized','Being confined or restricted to a particular location.'),('HP:0012839','Distal','Localized away from the central point of the body.'),('HP:0012840','Proximal','Localized close to the central point of the body.'),('HP:0012841','Retinal vascular tortuosity','The presence of an increased number of twists and turns of the retinal blood vessels.'),('HP:0012842','Skin appendage neoplasm','A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.'),('HP:0012843','Hair follicle neoplasm','An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.'),('HP:0012844','Trichilemmoma','A benign tumour originating from the outer root sheath of the hair follicle.'),('HP:0012845','Single trichilemmoma','Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.'),('HP:0012846','Multiple trichilemmomata','Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.'),('HP:0012847','Epilepsia partialis continua','Epilepsia partialis continua (also called Kojevnikov`s or Kozhevnikov`s epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).'),('HP:0012848','Small intestinal stenosis','The narrowing or partial blockage of a portion of the small intestine.'),('HP:0012849','Small intestinal bleeding','Bleeding from the small intestine.'),('HP:0012850','Small intestinal dysmotility','Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.'),('HP:0012851','Colonic stenosis','A narrowing of a segment of colon whereby bowel continuity is maintained.'),('HP:0012852','Hepatic bridging fibrosis','Hepatic fibrosis that reaches from a portal area to another portal area.'),('HP:0012853','Scrotal hypospadias','Hypospadias with location of the urethral meatus in the scrotum.'),('HP:0012854','Midshaft hypospadias','Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.'),('HP:0012855','Scrotal hyperpigmentation','Increased pigmentation (skin color) of the scrotum.'),('HP:0012856','Abnormal scrotal rugation','Anomaly of the folded ridges (wrinkles) of skin of the scrotum.'),('HP:0012857','Increased scrotal rugation','Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.'),('HP:0012858','Decreased scrotal rugation','Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.'),('HP:0012859','Esophageal leukoplakia','A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.'),('HP:0012860','Testicular fibrosis','Formation of excess connective tissue in the testicle.'),('HP:0012861','Ovotestis','A gonad that contains both ovarian follicles and testicular tubular elements.'),('HP:0012862','Abnormal germ cell morphology','Any structural anomaly of a reproductive cell.'),('HP:0012863','Abnormal male germ cell morphology','A structural anomaly of a male reproductive cell.'),('HP:0012864','Abnormal sperm morphology','A structural anomaly of sperm.'),('HP:0012865','Sperm head anomaly','A structural abnormality of the sperm head.'),('HP:0012866','Sperm neck anomaly','A structural abnormality of the sperm neck.'),('HP:0012867','Sperm mid-piece anomaly','A structural abnormality of the sperm mid-piece.'),('HP:0012868','Sperm tail anomaly','A structural abnormality of the sperm tail.'),('HP:0012869','Acephalic spermatozoa','Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.'),('HP:0012870','Vanishing testis','A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.'),('HP:0012871','Varicocele','A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.'),('HP:0012872','Abnormal vas deferens morphology','A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.'),('HP:0012873','Absent vas deferens','Aplasia (congenital absence) of the vas deferens.'),('HP:0012874','Abnormal male reproductive system physiology','An abnormal functionality of the male genital system.'),('HP:0012875','Abnormal ejaculation','Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.'),('HP:0012876','Premature ejaculation','The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.'),('HP:0012877','Retrograde ejaculation','The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.'),('HP:0012878','Retarded ejaculation','Difficulty of a male in achieving orgasm.'),('HP:0012879','Anejaculation','Inability to ejaculate.'),('HP:0012880','Abnormality of the labia minora','An anomaly of the labia minora, the folds of skin between the outer labia.'),('HP:0012881','Abnormality of the labia majora','An anomaly of the outer labia.'),('HP:0012882','Hyperplastic labia majora','Overgrowth of the outer labia.'),('HP:0012883','Fallopian tube cyst','A fluid filled sac located in the Fallopian tube.'),('HP:0012884','Fallopian tube torsion','A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.'),('HP:0012885','Fallopian tube duplication','The presence of a supernumerary Fallopian tube.'),('HP:0012886','Hemorrhagic ovarian cyst','An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.'),('HP:0012887','Ovarian serous cystadenoma','A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.'),('HP:0012888','Abnormality of the uterine cervix','An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.'),('HP:0012889','Cervical endometriosis','Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.'),('HP:0012890','Posteriorly placed anus','Posterior malposition of the anus.'),('HP:0012891','High posterior hairline','Hair on the neck extends less inferiorly than usual.'),('HP:0012892','Facial muscle hypertrophy','Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0012893','Neck muscle hypertrophy','Muscle hypertrophy affecting the muscles of the neck.'),('HP:0012894','Paraspinal muscle hypertrophy','Muscle hypertrophy affecting the paraspinal muscles.'),('HP:0012895','Scapular muscle hypertrophy','Muscle hypertrophy affecting the scapular muscles.'),('HP:0012896','Abnormal motor evoked potentials','An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.'),('HP:0012897','Abnormal upper-limb motor evoked potentials','An anomaly identified by motor evoked potentials (MEPs) in the arm.'),('HP:0012898','Abnormal lower-limb motor evoked potentials','An anomaly identified by motor evoked potentials (MEPs) in the leg.'),('HP:0012899','Handgrip myotonia','Difficulty releasing one`s grip associated with prolonged first handgrip relaxation times.'),('HP:0012900','Myotonia of the face','Slowed relaxation of muscles in the face.'),('HP:0012901','Myotonia of the jaw','Slowed relaxation of muscles in the jaw.'),('HP:0012902','Myotonia of the lower limb','Slowed relaxation of muscles in the leg.'),('HP:0012903','Myotonia of the upper limb','Slowed relaxation of muscles in the arm.'),('HP:0012904','Cold-sensitive myotonia','An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.'),('HP:0012905','Euryblepharon','Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.'),('HP:0020006','Ciliary body coloboma','A coloboma of the ciliary body.'),('HP:0020034','Diffuse','A spatial pattern that is spread out, i.e., not localized.'),('HP:0020035','Lower limb dysmetria','A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.'),('HP:0020036','Upper limb dysmetria','A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.'),('HP:0020037','Astasia','A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.'),('HP:0020038','Vertebrobasilar dolichoectasia','Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.'),('HP:0020041','Double elevator palsy','A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.'),('HP:0020042','Double depressor palsy','An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.'),('HP:0020043','Vertical incomitant strabismus','A type of incomitant strabismus in which the angle of deviation varies as the patient`s gaze shifts upwards and/or downwards.'),('HP:0020044','Horizontal incomitant strabismus',''),('HP:0020045','Esodeviation','A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.'),('HP:0020046','Accommodative esotropia','A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.'),('HP:0020047','Abnormal myeloid cell morphology','Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.'),('HP:0020048','Reduced bone-marrow pro-B cell count','A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.'),('HP:0020049','Exodeviation','A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.'),('HP:0020050','Anti-granulocyte-macrophage colony stimulating factor antibody positivity','The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.'),('HP:0020054','Abnormal erythrocyte physiology','Any functional abnormality of erythrocytes (red-blood cells).'),('HP:0020058','Abnormal red blood cell count','Any deviation from the normal number of red blood cells per volume in the circulation.'),('HP:0020059','Increased red blood cell count','An abnormal elevation above the normal number of red blood cells per volume in the circulation.'),('HP:0020060','Decreased red blood cell count','An abnormal reduction below the normal number of red blood cells per volume in the circulation.'),('HP:0020061','Abnormal hemoglobin concentration','Any deviation from the normal concentration of hemoglobin in the blood.'),('HP:0020062','Decreased hemoglobin concentration','An abnormal reduction below normal hemoglobin concentration in the circulation.'),('HP:0020063','Increased hemoglobin concentration','An abnormal elevation above normal hemoglobin concentration in the circulation.'),('HP:0020064','Abnormal eosinophil count','Any deviation from the normal number of eosinophils per volume in the blood circulation.'),('HP:0020071','Viremia','The presence of virus in the blood.'),('HP:0020072','Persistent EBV viremia','Persistent presence of Epstein-Barr virus in the blood.'),('HP:0020073','Hypopigmented macule','A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.'),('HP:0020074','Crystalluria','The presence of crystals in the urine.'),('HP:0020075','Leucine crystalluria','The presence of leuucine crystals in the urine.'),('HP:0020076','Wrist ganglion','A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.'),('HP:0020077','Carnitinuria','An elevated level of carnitine in the urine.'),('HP:0020078','Alaninuria','An increased level of alanine in the urine.'),('HP:0020079','Beta-alaninuria','An increased level of beta-alanine in the urine.'),('HP:0020080','Erythrocyte inclusion bodies','Nuclear or cytoplasmic aggregates of substances in red blood cells.'),('HP:0020081','Pappenheimer bodies','A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).'),('HP:0020082','Heinz bodies','A type of erythrocyte inclusion composed of denatured hemoglobin.'),('HP:0020083','Furuncle','An infection of a hair follicle that extends subcutaneously, forming an abscess.'),('HP:0020084','Carbuncle','A group of infected hair follicles, larger and deeper than a furuncle.'),('HP:0020085','Infection following live vaccination','An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.'),('HP:0020086','BCGitis','Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.'),('HP:0020087','BCGosis','Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination.'),('HP:0020088','Post-vaccination measles','Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.'),('HP:0020089','Post-vaccination rubella','Infection with the rubella virus of the live-attenuated vaccine.'),('HP:0020090','Post-vaccination polio','Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.'),('HP:0020091','Post-vaccination rotavirus infection','Infection with live attenuated rotavirus vaccine following vaccination.'),('HP:0020093','Recurrent deep organ abscess formation','Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.'),('HP:0020095','Prolonged need of intravenous antibiotic therapy','Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.'),('HP:0020096','Recurrent streptococcal infections','Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.'),('HP:0020097','Infection due to encapsulated bacteria','An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.'),('HP:0020098','Herpes encephalitis','Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.'),('HP:0020099','Severe norovirus infection','An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.'),('HP:0020100','Unusual fungal infection','An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.'),('HP:0020101','Invasive fungal infection','Fungal infection characterized by invasion of host tissues.'),('HP:0020102','Pneumocystis jirovecii pneumonia','An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.'),('HP:0020103','Invasive pulmonary aspergillosis','Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.'),('HP:0020104','Unusual protozoan infection','An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.'),('HP:0020105','Severe toxoplasmosis','Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).'),('HP:0020106','Severe giardiasis','An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.'),('HP:0020107','Unusual helminthic infection','An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).'),('HP:0020108','Unusual parasitic infection','An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.'),('HP:0020110','Bone fracture','A partial or complete breakage of the continuity of a bone.'),('HP:0020111','Abnormal CD4+CD25+ regulatory T cell proportion','A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.'),('HP:0020112','Increased proportion of CD4+CD25+ regulatory T cells','An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.'),('HP:0020113','Decreased proportion of CD4+CD25+ regulatory T cells','An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.'),('HP:0020114','Persistent human papillomavirus infection','Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.'),('HP:0020117','Hypoplastic dermoepidermal hemidesmosomes','Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.'),('HP:0020118','Radial artery aplasia','Congenital absence of the radial artery.'),('HP:0020119','Abnormal retinal nerve fiber layer morphology','A structural abnormality of the retinal nerve fiber layer'),('HP:0020120','Retinal nerve fiber edema','Swelling (edema) of the retinal nerve fibers.'),('HP:0020121','Conception by assisted reproductive technology','A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.'),('HP:0020122','Bite cells','Red blood cells that appear to have parts of them bitten away.'),('HP:0020123','Tympanosclerosis','A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.'),('HP:0020125','Spontaneous conjunctival filtering bleb','Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.'),('HP:0020126','Prostate mass','A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.'),('HP:0020127','Periarticular soft-tissue mass','A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.'),('HP:0020128','Aplasia of the olfactory tract','Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.'),('HP:0020129','Abnormal urine protein level','Any deviation of the concentration of one or more proteins in the urine.'),('HP:0020130','Increased urinary neutrophil gelatinase-associated lipocalin','An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).'),('HP:0020131','Abnormal tubular basement membrane morphology','Abnormal structure of the basement membrane of the renal tubulus.'),('HP:0020132','Thickening of the tubular basement membrane','Increase in thickness of the basement membrane of the tubulus of the kidney.'),('HP:0020133','Podocyte hypertrophy','Increase in size of the podocytes of the renal glomerulus.'),('HP:0020134','Increased urine neutrophil count','Abnormally increased count of neutrophils in urine.'),('HP:0020135','Myofibromatosis','A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.'),('HP:0020136','Anticardiolipin IgG antibody positivity','The presence of circulating IgG autoantibodies to cardiolipin.'),('HP:0020137','Anticardiolipin IgM antibody positivity','The presence of circulating IgM autoantibodies to cardiolipin.'),('HP:0020138','History of recent animal bite','Medical history of a recent bite injury due to an animal.'),('HP:0020139','History of recent insect bite','Medical history of a recent bite injury due to an insect.'),('HP:0020140','History of recent tick bite','Medical history of a recent bite injury due to a tick.'),('HP:0020141','Blood pressure substantially higher in legs than arms','An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.'),('HP:0020142','Blood pressure substantially higher in arms than legs','An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.'),('HP:0020143','Tracheal duplication cyst','A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.'),('HP:0020144','Calcium phosphate crystalluria','The presence of calcium phosphate crystals in the urine.'),('HP:0020145','Calcium oxalate crystalluria','The presence of calcium oxalate crystals in the urine.'),('HP:0020146','Calcium carbonate crystalluria','The presence of calcium carbonate crystals in the urine.'),('HP:0020147','2-Methylbutyryl glycinuria','Increased concentration of 2-methylbutyryl glycine in the urine.'),('HP:0020148','Increased circulating mead acid level','An abnormally elevated concentration od mead acid in the blood circulation.'),('HP:0020149','Elevated circulating succinate','An increase concentration of succinate in the blood circulation.'),('HP:0020150','Elevated urinary uromodulin','An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.'),('HP:0020151','Anti-DNA antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against DNA.'),('HP:0020152','Distal joint laxity','Lack of stability of a distal joint (e.g., finger).'),('HP:0020153','Positive blood 1,3 beta glucan test','Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.'),('HP:0020154','Nevus comedonicus','A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.'),('HP:0020155','Abnormal oocyte morphology','An abnormal structure of the female germ cell (egg cell).'),('HP:0020156','Abnormal zona pellucida morphology','Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.'),('HP:0020157','Thin zona pellucida','Reduced thickness of the zona pellucida.'),('HP:0020158','Increased circulating adrenic acid concentration','An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.'),('HP:0020159','Reduced response to gonadotropin-releasing hormone stimulation test','Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.'),('HP:0020160','GM1-ganglioside accumulation','Cellular accumulation of GM1 gangliosides.'),('HP:0020161','Branch retinal artery occlusion','Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.'),('HP:0020163','Cilioretinal artery occlusion','Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.'),('HP:0020164','Ophthalmic artery occlusion','A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.'),('HP:0020165','Branch retinal vein occlusion','Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.'),('HP:0020166','Central retinal vein occlusion','Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.'),('HP:0020167','Hemiretinal vein occlusion','A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.'),('HP:0020169','Abnormal drug response','An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.'),('HP:0020170','Increased blood drug concentration','High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.'),('HP:0020171','Decreased blood drug concentration','Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.'),('HP:0020172','Adverse drug response','An unpleasant or harmful reaction resulting from treatment with a drug.'),('HP:0020173','Reduced drug efficacy','Decreased response to a drug intervention in comparison to the expected response.'),('HP:0020174','Refractory drug response','Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.'),('HP:0020175','Reduced cholinesterase level','A decreased amount of cholinesterase in the blood circulation.'),('HP:0020176','Cholesterol crystalluria',''),('HP:0020177','Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells','An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.'),('HP:0020178','Abnormal dendritic cell count','A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).'),('HP:0020179','Abnormal haptoglobin level','A deviation from the normal concentration of haptoglobin in the blood circulation.'),('HP:0020180','Elevated haptoglobin level','An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.'),('HP:0020181','Reduced haptoglobin level','An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.'),('HP:0020182','Abnormal A-type atrial natriuretic peptide level','A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.'),('HP:0020183','Increased circulating A-type natriuretic peptide level','A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.'),('HP:0020184','Decreased circulating A-type natriuretic peptide level','A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.'),('HP:0020185','Superior cerebellar dysplasia','Abnormal morphological development of the superior part of the cerebellum.'),('HP:0020186','Multilobulated spleen','The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.'),('HP:0020187','Thick pachygyria','Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.'),('HP:0020188','Anterior predominant pachygyria with 5-10 mm cortical thickness','Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.'),('HP:0020189','Posterior predominant thick cortex pachygyria','Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.'),('HP:0020190','Perisylvian predominant thick cortex pachygyria','Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.'),('HP:0020191','Anterior predominant thick cortex pachygyria','Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.'),('HP:0020192','Pachygyria with 5-10 mm cortical thickness','Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.'),('HP:0020193','Prolonged reptilase time','An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.'),('HP:0020194','IgA heavy chain paraproteinemia','An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0020195','IgG heavy chain paraproteinemia','An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0020196','IgM heavy chain paraproteinemia','An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0020197','Increased circulating arachidonic acid level','An increased circulation of arachidonic acid in the blood circulation.'),('HP:0020198','Abnormal circulating 18-hydroxycorticosterone level','Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.'),('HP:0020199','Decreased circulating 18-hydroxycortisone level','A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.'),('HP:0020200','Increased circulating 18-hydroxycortisone level','An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.'),('HP:0020201','Abnormal sarcomere morphology','Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.'),('HP:0020202','Abnormal Z disc morphology','Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.'),('HP:0020203','Z-band streaming','Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.'),('HP:0020204','Tubulointerstitial bacterial infiltration','Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.'),('HP:0020205','Tubulointerstitial fungal infiltration','Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.'),('HP:0020206','Simple ear','The pinna has fewer folds and grooves than usual.'),('HP:0020207','Reflex seizure','Seizures precipitated by exogenous stimuli.'),('HP:0020208','Eating-induced seizure','A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.'),('HP:0020209','Hot water-induced seizure','A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.'),('HP:0020210','Praxis-induced seizure','A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.'),('HP:0020211','Proprioceptive-induced seizure','A seizure precipitated by movement or a change in posture.'),('HP:0020212','Reading-induced seizure','A seizure precipitated by reading.'),('HP:0020213','Somatosensory-induced seizure','A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.'),('HP:0020214','Startle-induced seizure','Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.'),('HP:0020215','Thinking-induced seizure','Seizures induced by thinking and decision-making.\ncomment:'),('HP:0020216','Visually-induced seizure','Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.'),('HP:0020217','Focal motor aware seizure','A type of focal motor seizure in which awareness is retained throughout the seizure.'),('HP:0020218','Focal aware atonic seizure','A type of focal atonic seizure during which awareness is fully retained throughout.'),('HP:0020219','Motor seizure','A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.'),('HP:0020220','Focal atonic seizure','A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.'),('HP:0020221','Clonic seizure','A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.'),('HP:0025004','Hallux rigidus','Osteoarthritis of the metatarsophalangeal joint of the first toe.'),('HP:0025005','Thickening of glomerular capillary wall','Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.'),('HP:0025006','Abnormal glomerular capillary morphology','A structural anomaly of the capillary blood vessels in the renal glomerulus.'),('HP:0025007','Ectopic fovea','An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.'),('HP:0025008','Tracheal tug on inspiration','Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.'),('HP:0025009','Forward slanting upper incisors','The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.'),('HP:0025010','Foveal atrophy','Partial or complete loss of foveal tissue that was once present.'),('HP:0025011','Pyriform aperture stenosis','Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.'),('HP:0025012','Status cribrosum','Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.'),('HP:0025013','Decerebrate rigidity','A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.'),('HP:0025014','Subcutaneous spheroids','Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.'),('HP:0025015','Abnormal vascular morphology',''),('HP:0025016','Abnormal capillary morphology','A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.'),('HP:0025017','Capillary fragility','Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).'),('HP:0025018','Abnormal capillary physiology','A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.'),('HP:0025019','Arterial rupture','Sudden breakage of an artery leading to leakage of blood from the circulation.'),('HP:0025020','Elevated prostate-specific antigen level','An increased concentration of prostate specific antigen (PSA) in the circulation.'),('HP:0025021','Abnormal erythrocyte sedimentation rate','A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.'),('HP:0025022','Decreased erythrocyte sedimentation rate','A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.'),('HP:0025023','Rectal atresia','A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.'),('HP:0025024','Megarectum','An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.'),('HP:0025025','Rectovestibular fistula','A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.'),('HP:0025026','H-type rectovestibular fistula','Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.'),('HP:0025027','Osteoma cutis','The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.'),('HP:0025028','Abnormality of enteric nervous system morphology','A structural anomaly of nerves of the enteric nervous system.'),('HP:0025029','Abnormality of enteric neuron morphology',''),('HP:0025030','Enteric neuronal degeneration','Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.'),('HP:0025031','Abnormality of the digestive system',''),('HP:0025032','Abnormality of digestive system physiology','A functional anomaly of the digestive system.'),('HP:0025033','Abnormality of digestive system morphology','A structural anomaly of the digestive system.'),('HP:0025034','Abnormal morphology of erythroid progenitor cell','Abnormal form of the progenitor cells committed to the erythroid lineage.'),('HP:0025035','Abnormal proerythroblast morphology','Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.'),('HP:0025037','Hypothalamic gliosis','Focal proliferation of glial cells in the hypothalamus.'),('HP:0025038','Intratesticular abscess','A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.'),('HP:0025039','Basal ganglia edema','Swelling within the basal ganglia due to the accumulation of fluid.'),('HP:0025040','Thalamic edema','Swelling within the thalamus due to the accumulation of fluid.'),('HP:0025041','Thalamic calcification','Calcium deposition in the thalamus.'),('HP:0025042','Abnormality of mesenteric lymph nodes','A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.'),('HP:0025043','Enlarged mesenteric lymph node','Increase in size of one or more mesenteric lymph nodes.'),('HP:0025044','Lung abscess','A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.'),('HP:0025045','Abnormal brain lactate level by MRS','A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025046','Reduced brain lactate level by MRS','A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025047','Abnormal brain choline level by MRS','A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025048','Reduced brain choline level by MRS','An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025049','Abnormal brain creatine level by MRS',''),('HP:0025050','Elevated brain creatine level by MRS','An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025051','Reduced brain creatine level by MRS','A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025052','Abnormal brain N-acetyl aspartate level by MRS','A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025053','Elevated brain N-acetyl aspartate level by MRS','An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025057','Abnormality of olfactory lobe morphology','A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.'),('HP:0025058','Hypothalamic atrophy',''),('HP:0025059','Splenic abscess','A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.'),('HP:0025060','Multifocal splenic abscess','Multiple abscess lesions in the spleen.'),('HP:0025061','Unifocal splenic abscess','Single (solitary) abscess in the spleen.'),('HP:0025062','Geophagia','The practice of eating earth or soil-like substrates such as clay or chalk.'),('HP:0025063','Scaphoid abdomen','The anterior abdominal wall is sunken and presents a concave rather than a convex contour.'),('HP:0025064','Thalamic hemorrhage','Bleeding in the thalamus.'),('HP:0025065','Abnormal mean corpuscular volume','A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.'),('HP:0025066','Decreased mean corpuscular volume','A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).'),('HP:0025068','Incomitant strabismus','Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.'),('HP:0025069','Concomitant strabismus','Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.'),('HP:0025070','Abnormal U wave','An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.'),('HP:0025071','U wave inversion','Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.'),('HP:0025072','Prominent U wave','Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave.'),('HP:0025073','Exercise-induced U wave inversion','U wave inversion that is induced by exercise stress testing.'),('HP:0025074','Abnormal QRS complex','An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.'),('HP:0025075','Increased QRS voltage','Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).'),('HP:0025076','Abnormal QRS voltage','Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).'),('HP:0025077','Decreased QRS voltage','Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.'),('HP:0025078','Electrical alternans','The QRS complexes of the electrocardiogram alternate in height.'),('HP:0025079','Pancreatic abscess','A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.'),('HP:0025080','Orthokeratotic hyperkeratosis','A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.'),('HP:0025081','Darier`s sign','A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier`s sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.'),('HP:0025082','Abnormal cutaneous elastic fiber morphology','Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.'),('HP:0025083','Elevated dermal desmosine content','An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.'),('HP:0025084','Folliculitis','Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.'),('HP:0025085','Bloody diarrhea','Passage of many stools containing blood.'),('HP:0025086','Bloody mucoid diarrhea','Passage of many stools containing blood and mucus.'),('HP:0025087','Delayed recoil upon stretching of skin','Area of skin requiring an increased amount of time to return to its original shape after being stretched.'),('HP:0025088','Onychomadesis','Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.'),('HP:0025089','Feculent vomiting','Vomiting of material that is of fecal origin.'),('HP:0025090','Abnormal large intestinal mucosa morphology','A structural anomaly of the mucous lining of the large intestine.'),('HP:0025092','Epidermal acanthosis','Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).'),('HP:0025093','Peripapillary exudate','A retinal exudate in the area surrounding the optic nerve head.'),('HP:0025094','Disciform macular scar','A subretinal scar with a disc-like shape in the region of the macula.'),('HP:0025095','Sneeze','A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.'),('HP:0025096','Paroxysmal sneezing','Unprovoked explosive pathological sneezing.'),('HP:0025097','Eyelid myoclonus','Marked, involuntary jerking of the eyelids.'),('HP:0025098','Dysgenesis of the hypothalamus','Structural abnormality of the hypothalamus related to defective development.'),('HP:0025099','Dysgenesis of the thalamus','Structural abnormality of the thalamus related to defective development.'),('HP:0025100','Abnormal morphology of the hippocampus','Any structural anomaly of the hippocampus,'),('HP:0025101','Dysgenesis of the hippocampus','Structural abnormality of the hippocampus related to defective development.'),('HP:0025102','Dysgenesis of the basal ganglia','Structural abnormality of the basal ganglia related to defective development.'),('HP:0025103','Umbilicated nodule','A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).'),('HP:0025104','Capillary malformation','A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).'),('HP:0025105','Nevus anemicus','A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots.'),('HP:0025106','Nevus roseus','A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.'),('HP:0025107','Cutis marmorata telangiectatica congenita','A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.'),('HP:0025108','Angioma serpentinum','Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.'),('HP:0025109','Reduced red cell pyruvate kinase level','Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.'),('HP:0025110','Placoid macular lesion','Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.'),('HP:0025112','Sound sensitivity','Decreased tolerance to sound.'),('HP:0025113','Misophonia','An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.'),('HP:0025114','Hypergranulosis','Hypergranulosis is an increased thickness of the stratum granulosum.'),('HP:0025115','Civatte bodies','Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant'),('HP:0025116','Fetal distress','An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.'),('HP:0025117','Rete ridge flattening','Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.'),('HP:0025118','Lip discoloration','Lightening or darkening of the lips from their usual coloring.'),('HP:0025119','Violet lip discoloration','An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.'),('HP:0025121','obsolete Simple partial occipital seizures',''),('HP:0025122','Sawtooth acanthosis','A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.'),('HP:0025123','White streaks/specks on enamel.','Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.'),('HP:0025124','Fragile teeth','A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.'),('HP:0025125','White lesion of the oral mucosa','White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.'),('HP:0025126','Oral hairy leukoplakia','A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.'),('HP:0025127','Actinic keratosis','A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.'),('HP:0025128','Reduced intraabdominal adipose tissue','An abnormally reduced amount of adipose tissue in the abdominal cavity.'),('HP:0025129','Abnormal small intestinal mucosa morphology','A structural anomaly of the mucous lining of the small intestine.'),('HP:0025130','Decreased small intestinal mucosa lactase level','Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.'),('HP:0025131','Finger swelling','Enlargement of the soft tissues of one or more fingers.'),('HP:0025132','Abnormal circulating estrogen level','A deviation from normal concentration of the hormone estrogen in the blood circulation.'),('HP:0025133','Abnormal serum estradiol','A deviation from normal concentrations of estradiol in the circulation.'),('HP:0025134','Increased serum estradiol','An elevation above normal limits of the concentration of estradiol in the circulation.'),('HP:0025135','Abnormal serum estriol','A deviation from normal concentration of estriol in the circulation.'),('HP:0025136','Increased serum estriol','An elevation above normal limits of estriol concentration in the circulation.'),('HP:0025137','Decreased serum estriol','A reduction below normal limits of estriol in the circulation.'),('HP:0025138','Abnormal serum estrone','A deviation from the normal concentration of circulating estrone.'),('HP:0025139','Increased serum estrone','An elevation above normal limits of the concentration of estrone in the circulation.'),('HP:0025140','Decreased serum estrone','A reduction below normal limits of the concentration of estrone in the circulation.'),('HP:0025141','Gingival calcification','Ectopic deposition of calcium salts found in the gingiva.'),('HP:0025142','Constitutional symptom','A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.'),('HP:0025143','Chills','A sudden sensation of feeling cold.'),('HP:0025144','Shivering','Involuntary contraction or twitching of the muscles.'),('HP:0025145','Rigors','Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.'),('HP:0025146','Foveal degeneration','Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.'),('HP:0025147','Beaten bronze macular sheen','A shiny appearance of the macula, which is often called a beaten bronze appearance.'),('HP:0025148','Dark choroid','A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).'),('HP:0025149','Atrophic muscularis propria','Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.'),('HP:0025150','Hypoganglionosis','Sparse and small myenteric ganglia'),('HP:0025151','Ganglioneuromatosis','Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.'),('HP:0025152','Poor visual behavior for age','Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.'),('HP:0025153','Transient','Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.'),('HP:0025154','Portosystemic collateral veins','Presence of biliary veins that serve as a collateral channel to the systemic circulation'),('HP:0025155','Abnormality of hepatobiliary system physiology','A functional anomaly of the hepatobiliary system'),('HP:0025156','Dependency on intravenous nutrition','Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.'),('HP:0025157','Increased urinary sedoheptulose','An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.'),('HP:0025158','Hyperautofluorescent retinal lesion','Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.'),('HP:0025159','Hypoautofluorescent retinal lesion','Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.'),('HP:0025160','Abnormal temper tantrums','A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual.'),('HP:0025161','Frequent temper tantrums','Temper tantrums that occur more frequently than usual.'),('HP:0025162','Severe temper tantrums','Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes.'),('HP:0025163','Abnormality of optic chiasm morphology','A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.'),('HP:0025164','Increased number of elastic fibers in the dermis','An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.'),('HP:0025165','Clumping of elastic fibers in the dermis','Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).'),('HP:0025166','Thickened elastic fibers in the dermis','An increase of the diameter of elastic fibers in the dermis.'),('HP:0025167','Fragmented elastic fibers in the dermis','Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.'),('HP:0025168','Left ventricular diastolic dysfunction','Abnormal function of the left ventricule during left ventricular relaxation and filling.'),('HP:0025169','Left ventricular systolic dysfunction','Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.'),('HP:0025170','Neuronal/glioneuronal neoplasm of the central nervous system','A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.'),('HP:0025171','Rosette-forming glioneuronal tumor','A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.'),('HP:0025172','Smooth septal thickening on pulmonary HRCT','Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.'),('HP:0025173','Nodular septal thickening on pulmonary HRCT','Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.'),('HP:0025174','Irregular septal thickening on pulmonary HRCT','Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.'),('HP:0025175','Honeycomb lung','Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis.'),('HP:0025176','Intralobular interstitial thickening','A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.'),('HP:0025177','Peribronchovascular interstitial thickening','Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.'),('HP:0025178','Subpleural interstitial thickening','Increase in thickness of the subpleural interstitium.'),('HP:0025179','Ground-glass opacification on pulmonary HRCT','A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings.'),('HP:0025180','Centrilobular ground-glass opacification on pulmonary HRCT','A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.'),('HP:0025181','Abdominal aseptic abscess','An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.'),('HP:0025182','Localized area of pendulous skin','A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.'),('HP:0025186','Marcus Gunn jaw winking synkinesis','Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.'),('HP:0025188','Retinal vasculitis','Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.'),('HP:0025190','Bilateral tonic-clonic seizure with generalized onset','A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.'),('HP:0025191','obsolete Segmental myoclonic seizures',''),('HP:0025192','Subtentorial periventricular white matter hyperdensity','Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).'),('HP:0025193','Posterolateral diaphragmatic hernia','A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.'),('HP:0025194','Morgagni diaphragmatic hernia','An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.'),('HP:0025195','Central diaphragmatic hernia','A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.'),('HP:0025196','Increased total iron binding capacity','An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.'),('HP:0025197','Inclusion body fibromatosis','A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.'),('HP:0025198','Inflammatory cap polyp','A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.'),('HP:0025200','Muscle fiber actin filament accumulation',''),('HP:0025201','Abnormal apolipoprotein level','A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.'),('HP:0025202','Elevated apolipoprotein A-IV level','An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.'),('HP:0025203','Caput medusae','Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.'),('HP:0025204','Triggered by','A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.'),('HP:0025205','Triggered by breast feeding','Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.'),('HP:0025206','Triggered by cold','Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.'),('HP:0025207','Triggered by dehydration','Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.'),('HP:0025208','Triggered by carbohydrate ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.'),('HP:0025209','Triggered by fructose ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.'),('HP:0025210','Triggered by glucose ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.'),('HP:0025211','Triggered by ethanol ingestion','Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.'),('HP:0025212','Triggered by fasting','Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).'),('HP:0025213','Triggered by galactose ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.'),('HP:0025214','Triggered by heat','Applies to a sign or symptom that is provoked or brought about by exposure to heat.'),('HP:0025215','Triggered by febrile illness','Applies to a sign or symptom that is provoked or brought about by febrile illness.'),('HP:0025216','Triggered by heavy meal','Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.'),('HP:0025217','Triggered by high-fat diet','Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.'),('HP:0025218','Triggered by hyperventilation','Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.'),('HP:0025219','Triggered by vaccination','Applies to a sign or symptom that is provoked or brought about by a vaccination.'),('HP:0025220','Triggered by menstruation','Applies to a sign or symptom that is provoked or brought about by menstruation in a female.'),('HP:0025221','Triggered by pregnancy','Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.'),('HP:0025222','Triggered by sleep deprivation','Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.'),('HP:0025223','Triggered by smoking','Applies to a sign or symptom that is provoked or brought about by smoking.'),('HP:0025224','Triggered by sodium ingestion','Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.'),('HP:0025225','Triggered by sound','Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.'),('HP:0025226','Triggered by stress','Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.'),('HP:0025227','Triggered by excitement','Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.'),('HP:0025228','Triggered by sudden movement','Applies to a sign or symptom that is provoked or brought about by a sudden movement.'),('HP:0025229','Triggered by vestibular stimulation','Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.'),('HP:0025230','Tendonitis','Inflammation of a tendon.'),('HP:0025231','Abnormality of synovial bursa morphology','A structural anomaly of a synovial bursa.'),('HP:0025232','Bursitis','Inflammation of a synovial bursa.'),('HP:0025233','Sleep paralysis','An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.'),('HP:0025234','Parasomnia','An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep.'),('HP:0025235','Non-rapid eye movement parasomnia','A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).'),('HP:0025236','Somnambulism','Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.'),('HP:0025237','Confusional arousal','A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.'),('HP:0025238','Foot pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.'),('HP:0025239','Subhyaloid hemorrhage','A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.'),('HP:0025240','Preretinal hemorrhage','An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.'),('HP:0025241','Flame-shaped retinal hemorrhage','A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).'),('HP:0025242','Dot-and-blot retinal hemorrhage','Accumulation of blood located in the retina`s inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.'),('HP:0025243','Subretinal hemorrhage','Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.'),('HP:0025244','Subretinal pigment epithelium hemorrhage','An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch`s membrane.'),('HP:0025245','Cutaneous cyst','A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.'),('HP:0025246','Trichilemmal cyst','Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.'),('HP:0025247','Dermoid cyst','A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm.'),('HP:0025248','Eruptive vellus hair cyst','A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.'),('HP:0025249','Comedo','A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).'),('HP:0025250','Closed comedo','A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.'),('HP:0025251','Open comedo','A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.'),('HP:0025252','Geographic tongue','An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.'),('HP:0025253','Claustrophobia','An abnormal fear of being in a closed or narrow space with no escape.'),('HP:0025254','Ameliorated by','An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable'),('HP:0025255','Ameliorated by pregnancy','Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.'),('HP:0025256','Ameliorated by heat','Applies to a sign or symptom that is improved or made more bearable by heat (including fever).'),('HP:0025257','Ameliorated by carbohydrate ingestion','Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).'),('HP:0025258','Stiff neck','A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.'),('HP:0025259','Stiff elbow','A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.'),('HP:0025260','Stiff wrist','A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.'),('HP:0025261','Stiff finger','A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.'),('HP:0025262','Stiff hip','A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.'),('HP:0025263','Stiff knee','A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.'),('HP:0025264','Stiff ankle','A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.'),('HP:0025265','Stiff toe','A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.'),('HP:0025266','Cervical osteoarthritis','Degeneration (wear and tear) of the articular cartilage of the neck joints.'),('HP:0025267','Snoring','Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.'),('HP:0025268','Stuttering','Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.'),('HP:0025269','Panic attack','A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying.'),('HP:0025270','Abnormality of esophagus physiology','Any physiological abnormality of the esophagus.'),('HP:0025271','Esophageal spasms','Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.'),('HP:0025272','Melasma','Symmetrical, blotchy, brownish facial pigmentation.'),('HP:0025273','Achilles tendonitis','Inflammation of the Achilles tendon.'),('HP:0025274','Ovarian dermoid cyst','An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.'),('HP:0025275','Lateral','Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.'),('HP:0025276','Abnormality of skin adnexa physiology','Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.'),('HP:0025277','Gustatory sweating','Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).'),('HP:0025278','Cold-induced sweating','Sweating provoked by cold temperature rather than by heat.'),('HP:0025279','Migratory',''),('HP:0025280','Pain characteristic','A pain characteristic is defined as a subjective category or type of pain.'),('HP:0025281','Sharp','Applied to pain that is described as sharp, i.e., sudden and severe.'),('HP:0025282','Dull','Applied to pain that is dull, i.e., not severe but that continues over a long period of time.'),('HP:0025283','Tender','Applied to pain that is tender, i.e., elicited by touching the affected body part.'),('HP:0025284','Sleep-interrupting','Applied to pain that wakes the affecting individual from sleep.'),('HP:0025285','Aggravated by','An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.'),('HP:0025286','Aggravated by activity','Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.'),('HP:0025287','Axial','Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.'),('HP:0025289','Cervical lymphadenopathy','Enlarged lymph nodes in the neck.'),('HP:0025290','Upper-body predominance','Applies to an abnormality that affects the arms, trunk, head more than the legs.'),('HP:0025291','Lower-body predominance','Applies to an abnormality that affects the legs more than the arms, trunk, head.'),('HP:0025292','Acral','Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).'),('HP:0025293','Distributed along Blaschko lines','Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body.'),('HP:0025294','Dermatomal','Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.'),('HP:0025295','Herpetiform','Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.'),('HP:0025296','Morbilliform','Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.'),('HP:0025297','Prolonged','Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).'),('HP:0025300','Malar rash','An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.'),('HP:0025301','Nocturnal','Applies to an abnormality that occurs in or is exacerbated during the night.'),('HP:0025302','Diurnal','Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.'),('HP:0025303','Episodic','Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.'),('HP:0025304','Periodic','Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.'),('HP:0025305','Quotidian','Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).'),('HP:0025306','Acute emergence over minutes','Acute appearance of disease manifestations in a period of minutes.'),('HP:0025307','Acute emergence over hours','Acute appearance of disease manifestations in a period of hours.'),('HP:0025308','Acute emergence over days','Acute appearance of disease manifestations in a period of days.'),('HP:0025309','Abnormal pupil shape','A deviation from the normal circular shape of the pupil'),('HP:0025310','Oval pupil','An abnormal pupil shape that is elliptical, i.e., egg-like.'),('HP:0025311','Anterior chamber cyst','A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.'),('HP:0025312','Esophoria','A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.'),('HP:0025313','Exophoria','A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.'),('HP:0025314','Choroidal nevus','A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.'),('HP:0025315','Exacerbated by head trauma','Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.'),('HP:0025317','Cubitus varus','A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.'),('HP:0025318','Ovarian carcinoma','A malignant neoplasm originating from the surface ovarian epithelium.'),('HP:0025319','Rubeosis iridis','Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.'),('HP:0025320','Leakage of dye on fundus fluorescein angiography','Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.'),('HP:0025321','Copper accumulation in liver','An anomalous build up of copper (Cu) in the liver.'),('HP:0025322','Venous occlusion','Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.'),('HP:0025323','Abnormal arterial physiology','An anomaly of arterial function.'),('HP:0025324','Arterial occlusion','Blockage of blood flow through an artery.'),('HP:0025325','Sparse medial eyebrow','Decreased density/number and/or decreased diameter of medial eyebrow hairs.'),('HP:0025326','Retinal arterial occlusion','Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.'),('HP:0025327','Decreased renal parenchymal thickness','Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.'),('HP:0025328','Antepartum hemorrhage','Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.'),('HP:0025329','Anti-glutamic acid decarboxylase antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.'),('HP:0025330','Downgaze palsy','A limitation of the ability to direct one`s gaze below the horizontal meridian.'),('HP:0025331','Upgaze palsy','A limitation of the ability to direct one`s gaze above the horizontal meridian.'),('HP:0025332','Abnormality of foot cortical bone','An anomaly of the outer shell (cortex) of a foot bone.'),('HP:0025333','Cortical thinning of foot bones','A reduction in the thickness of the outer shell (cortex) of foot bones.'),('HP:0025334','Triggered by emotion','Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).'),('HP:0025335','Delayed ability to stand','A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.'),('HP:0025336','Delayed ability to sit','A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.'),('HP:0025337','Red eye','A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.'),('HP:0025338','Circumlimbal hyperemia','A ring of redness at the limbus of the eye, the border between the cornea and the sclera.'),('HP:0025339','Superficial episcleral hyperemia','Prominence of blood vessels of the superficial episcleral tissues.'),('HP:0025340','Deep episcleral hyperemia','Prominence of blood vessels of the deep episcleral tissues.'),('HP:0025341','Corneal keratic precipitates','An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.'),('HP:0025342','Central retinal artery occlusion','Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.'),('HP:0025343','Lupus anticoagulant','Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.'),('HP:0025344','Interlobular bile duct destruction','Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).'),('HP:0025345','Abnormality of circulating beta-2-microglobulin level','A deviation from the normal concentration of beta-2-microglobulin in the blood.'),('HP:0025346','Increased circulating beta-2-microglobulin level','Elevated concentration of beta-2-microglobulin in the blood.'),('HP:0025347','Decreased circulating beta-2-microglobulin level','Reduced concentration of beta-2-microglobulin in the blood.'),('HP:0025348','Abnormality of the corneal limbus','An anomaly of the margin of the cornea overlapped by the sclera.'),('HP:0025349','Limbal edema','Swelling of the margin of the cornea overlapped by the sclera.'),('HP:0025350','Giant conjunctival papillae','Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.'),('HP:0025351','Recurrent interdigital mycosis','A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.'),('HP:0025352','Autosomal dominant germline de novo mutation','Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation.'),('HP:0025353','Anti-multiple nuclear dots antibody positivity','A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.'),('HP:0025354','Abnormal cellular phenotype','An anomaly of cellular morphology or physiology.'),('HP:0025355','Retinal arterial macroaneurysms','Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.'),('HP:0025356','Psychomotor retardation',''),('HP:0025357','Erratic myoclonus','A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.'),('HP:0025358','Uveal ectropion','Presence of iris pigment epithelium on the anterior surface of the iris.'),('HP:0025359','Polygonal renal calices','An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).'),('HP:0025360','Polycalycosis','Increased number of calices of the kidney.'),('HP:0025361','Abnormality of medullary pyramid morphology','A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.'),('HP:0025362','Renal medullary pyramid hypoplasia','Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.'),('HP:0025363','Endocapillary hypercellularity','Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.'),('HP:0025364','Extracapillary hypercellularity','Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.'),('HP:0025367','Trichoepithelioma','A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.'),('HP:0025368','Abnormality of growth plate morphology','A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).'),('HP:0025369','Thick growth plates','Increased thickness (dimension along the axis of the bone) of the growth plate.'),('HP:0025370','Abnormal ossification of the sacrum','Abnormal bone tissue formation (ossification) affecting the sacrum.'),('HP:0025371','Delayed ossification of the sacrum','Formation of the sacrum bone tissue occurs later than age-adjusted norms.'),('HP:0025372','Loud snoring','Particularly loud snoring, snoring at high volume.'),('HP:0025373','Interictal EEG abnormality','Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.'),('HP:0025374','Duplicated odontoid process','The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.'),('HP:0025375','Orthotopic os odontoideum','Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.'),('HP:0025376','Hyperglutaminuria','An increased concentration of glutamine in the urine.'),('HP:0025377','Triggered by exertion','Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.'),('HP:0025379','Anti-thyroid peroxidase antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.'),('HP:0025380','Increased serum androstenedione','Increased level of circulating 4-androstenedione.'),('HP:0025381','Anti-pituitary antibody positivity','Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.'),('HP:0025382','Hypodipsia','Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.'),('HP:0025383','Dorsocervical fat pad','An area of fat accumulation at the back of the neck in the form of a hump.'),('HP:0025384','Diet-resistant subcutaneous adipose tissue','Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.'),('HP:0025385','Diet-resistant subcutaneous adipose tissue below waist','Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.'),('HP:0025386','Bitemporal hollowing','Depression of profile in both temporal regions.'),('HP:0025387','Pill-rolling tremor','A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.'),('HP:0025388','Thyroid nodule','A nodular lesion that develops in the thyroid gland. The term \"thyroid nodule\" refers to any abnormal growth that forms a lump in the thyroid gland.'),('HP:0025389','Pulmonary interstitial high-resolution computed tomography abnormality','High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.'),('HP:0025390','Reticular pattern on pulmonary HRCT','On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.'),('HP:0025391','Crazy paving pattern on pulmonary HRCT','The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones.'),('HP:0025392','Nodular pattern on pulmonary HRCT','A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.'),('HP:0025393','Reticulonodular pattern on pulmonary HRCT','Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.'),('HP:0025394','Cystic pattern on pulmonary HRCT','On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.'),('HP:0025395','Combined cystic and ground-glass pattern on pulmonary HRCT','Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,'),('HP:0025396','Decreased attenuation pattern on pulmonary HRCT','Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.'),('HP:0025397','Mosaic attenuation pattern on pulmonary HRCT','A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.'),('HP:0025398','Nodular-perilymphatic pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.'),('HP:0025399','Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.'),('HP:0025400','Nodular-random pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.'),('HP:0025401','Staring gaze','An abnormality in which the eyes are held permanently wide open.'),('HP:0025402','Square-wave jerks','Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.'),('HP:0025403','Stooped posture','A habitual positioning of the body with the head and upper back bent forward.'),('HP:0025404','Abnormal visual fixation','Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.'),('HP:0025405','Visual fixation instability','A deficit in the ability to fixate eye movements in order to stabilize images on the retina'),('HP:0025406','Asthenia','A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.'),('HP:0025407','Rectourethral fistula','An abnormal connection (fistula) between the rectum and the urethra.'),('HP:0025408','Abnormal spleen morphology','Any anomaly of the structure of the spleen.'),('HP:0025409','Abnormal spleen physiology','Any anomaly of the function of the spleen.'),('HP:0025410','Splenogonadal fusion','Joining of the spleen and a gonad during embryological development.'),('HP:0025413','Fossa navicularis urethral stricture','A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.'),('HP:0025414','Pendulous urethral stricture','A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.'),('HP:0025415','Bulbar urethral stricture','A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.'),('HP:0025416','Vaginal stricture','A narrowing of the vagina owing to scar formation.'),('HP:0025417','Patulous urethra','Urethra more open or expanded than normal.'),('HP:0025418','Renal cortical necrosis','Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.'),('HP:0025419','Pulmonary pneumatocele','An air-filled cystic space within a lung.'),('HP:0025420','Diffuse alveolar hemorrhage','A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.'),('HP:0025421','Pneumomediastinum','The presence of free air in the mediastinum.'),('HP:0025422','Pleural cyst','A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.'),('HP:0025423','Abnormal larynx morphology','Any anomaly of the structure of the larynx.'),('HP:0025424','Abnormal larynx physiology','Any anomaly of the function of the larynx.'),('HP:0025425','Laryngospasm','A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.'),('HP:0025426','Abnormal bronchus morphology','Any anomaly of the morphology of the bronchi.'),('HP:0025427','Abnormal bronchus physiology','Any anomaly of the function of the bronchi.'),('HP:0025428','Bronchospasm','A spasm (sudden, involuntary constriction) of the bronchioles.'),('HP:0025429','Abnormal cry','Any anomaly of the vocalizing of an infant`s crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.'),('HP:0025430','High-pitched cry','A type of crying in an abnormally high-pitched voice.'),('HP:0025431','Staccato cry','A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.'),('HP:0025432','Acanthoma','A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.'),('HP:0025433','Decreased lecithin cholesterol acyl transferase level','Reduced level of the enzyme lecithin cholesterol acyl transferase.'),('HP:0025434','Reduced hemolytic complement activity','A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.'),('HP:0025435','Increased lactate dehydrogenase level','An elevated level of the enzyme lactate dehydrogenase in serum.'),('HP:0025436','Elevated serum 11-deoxycortisol','Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.'),('HP:0025437','Macrocephalic sperm head','Increased size of the head of sperm.'),('HP:0025439','Pharyngitis','Inflammation (due to infection or irritation) of the pharynx.'),('HP:0025440','Warm reactive autoantibody positivity','Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.'),('HP:0025441','Achilles tendon calcification','Ectopic deposition of calcium salts in the Achilles tendon.'),('HP:0025443','Abnormal cardiac atrial physiology','An abnormality of the function of the cardiac atria.'),('HP:0025444','Reduced amygdala volume','A decrease in the volume (size) of the amygdyla.'),('HP:0025445','Morphological abnormality of the papillary muscles','Any structural anomaly of the papillary muscles of the left ventricle.'),('HP:0025446','Anomalous insertion of papillary muscle directly into anterior mitral leaflet','A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.'),('HP:0025447','Displacement of the papillary muscles','Abnormal location of the insertion of a papillary muscle into the left ventricular wall.'),('HP:0025448','Anterior displacement of the papillary muscles','Abnormally anterior location of the papillary muscles of the left ventricle.'),('HP:0025449','Apically displaced anterolateral papillary muscle','Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,'),('HP:0025451','Testicular adrenal rest tumor','Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.'),('HP:0025452','Pyoderma gangrenosum','A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat`s paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.'),('HP:0025453','Delayed adrenarche','Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.'),('HP:0025454','Abnormal CSF metabolite level','Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.'),('HP:0025455','Decreased CSF 5-hydroxyindolacetic acid','CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal.'),('HP:0025456','Abnormal CSF protein level','Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.'),('HP:0025457','Decreased CSF protein','CSF total protein level is below the lower limit of normal.'),('HP:0025458','Decreased CSF albumin concentration',''),('HP:0025459','Increased CSF/serum albumin ratio','An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.'),('HP:0025460','High myoinositol in brain by MRS','An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0025461','Abnormal cell morphology','Any anomaly of cell structure.'),('HP:0025462','obsolete Abnormal cellular physiology',''),('HP:0025463','Abnormality of redox activity','An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.'),('HP:0025464','Increased reactive oxygen species production','An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.'),('HP:0025465','Abnormal circulating beta globulin level','A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.'),('HP:0025466','Beta 2-microglobulinuria','Increased level of beta 2-microglobulins in the urine.'),('HP:0025469','Anagen effluvium','An abnormal loss of anagen (growth phase) hairs.'),('HP:0025470','Telogen effluvium','A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.'),('HP:0025471','Congenital panfollicular nevus','A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.'),('HP:0025472','Recurrent plantar mycosis','A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.'),('HP:0025473','Hyperpigmented papule','A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.'),('HP:0025474','Erythematous plaque','A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.'),('HP:0025475','Erythematous macule','A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.'),('HP:0025476','Testicular lipomatosis','Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.'),('HP:0025477','Periarticular calcification','Calcified deposits in soft tissue structures outside a joint.'),('HP:0025478','Atrial standstill','Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.'),('HP:0025479','Self-neglect','Neglecting one`s own needs and well-being.'),('HP:0025480','Lipomyelomeningocele','A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.'),('HP:0025481','Cervical hemivertebrae','Absence of one half of the vertebral body in the cervical spine.'),('HP:0025482','Positive perchlorate discharge test','An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.'),('HP:0025483','Abnormal circulating thyroglobulin level','A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.'),('HP:0025484','Increased circulating thyroglobulin level','An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.'),('HP:0025485','Vaginal adenosis','Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.'),('HP:0025486','Fused labia majora','The outer labia are sealed together.'),('HP:0025487','Abnormality of bladder morphology','Any structural anomaly of the bladder.'),('HP:0025488','Detrusor sphincter dyssynergia','A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.'),('HP:0025489','Bladder duplication','A congenital anomaly characterized by the presence of two bladders.'),('HP:0025490','Myocardial bridging','A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.'),('HP:0025491','Venous stenosis','Narrowing of a vein due to intimal hyperplasia and fibrosis.'),('HP:0025492','Microcoria','A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.'),('HP:0025493','Palmoplantar erythema','Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0025494','Coated aorta','Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans'),('HP:0025495','Descending aorta hypoplasia','Significant luminal narrowing of a long segment of the descending aorta.'),('HP:0025496','Abnormal coronary artery physiology','Any anomaly of the function of a coronary artery.'),('HP:0025497','Coronary artery spasm','A brief and sudden narrowing of a coronary artery.'),('HP:0025498','Aceruloplasminemia','Absence of ceruloplasmin in the blood.'),('HP:0025499','Class I obesity','Obesity with a body mass index of 30 to 34.9 kg per square meter.'),('HP:0025500','Class II obesity','Obesity with a body mass index of 35 to 39.9 kg per square meter.'),('HP:0025501','Class III obesity','Obesity with a body mass index of 40 kg per square meter or higher.'),('HP:0025502','Overweight','Increased body weight with a body mass index of 25-29.9 kg per square meter.'),('HP:0025503','Anomalous coronary artery arising from the opposite sinus','Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.'),('HP:0025505','Anomalous origin of the circumflex artery from the right sinus of Valsalva','The circumflex coronary artery originates from the right aortic sinus of Valsalva.'),('HP:0025506','Coronary artery sandwich anomaly','Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,'),('HP:0025507','Yellow papule','A papule with yellow color.'),('HP:0025508','Gottron`s papules','Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.'),('HP:0025509','Piezogenic pedal papules','Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.'),('HP:0025510','Nevus spilus','A tan, regularly bordered patch with darker macules within the lesion.'),('HP:0025511','Nevus sebaceus','A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.'),('HP:0025512','Skin-colored papule','A papule with the same color as the surrounding skin.'),('HP:0025513','Scleral rupture','Breakage of the sclera.'),('HP:0025514','Morning glory anomaly','An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.'),('HP:0025515','Delayed thelarche','Later than normal development of the breasts.'),('HP:0025516','Coronary-pulmonary artery fistula','A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.'),('HP:0025517','Hypoplastic hippocampus','Underdevelopment of the hippocampus.'),('HP:0025518','Visual gaze preference','An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.'),('HP:0025519','Multiple biliary hamartomas','Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.'),('HP:0025520','Calcinosis cutis','Deposition of calcium in the skin.'),('HP:0025521','Increased body fat percentage','The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.'),('HP:0025522','Elongated chordae tendinae of the mitral valve','Abnormal increased in length of the chordae tendinae of the mitral valve.'),('HP:0025523','Abnormal morphology of the chordae tendinae of the mitral valve','A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.'),('HP:0025524','Palmoplantar scaling skin','Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.'),('HP:0025525','Scaling skin on fingertip','Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.'),('HP:0025526','Psoriasiform lesion','A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.'),('HP:0025527','Serpiginous cutaneous lesion','A skin lesion with a snake- or serpent-like distribution.'),('HP:0025528','Annular cutaneous lesion','A lesion of the skin with a ring-like distribution.'),('HP:0025529','Hyperpigmented nodule','A nodule of the skin that exhibits an increased amount of pigmentation.'),('HP:0025530','Xanthomas of the palmar creases','The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.'),('HP:0025531','Harlequin phenomenon','The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.'),('HP:0025532','Positive pathergy test','With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.'),('HP:0025533','Peau d`orange',''),('HP:0025534','Ocular melanocytosis','A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.'),('HP:0025535','Shawl sign','Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.'),('HP:0025536','V-sign','Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.'),('HP:0025537','Plantar edema','An abnormal accumulation of fluid beneath the skin on sole of the foot.'),('HP:0025538','Palmar edema','An abnormal accumulation of fluid beneath the skin on the palm of the hand.'),('HP:0025539','Abnormal B cell subset distribution',''),('HP:0025540','Abnormal T cell subset distribution','Any abnormality in the proportion T cells subsets relative to the total number of T cells.'),('HP:0025541','obsolete Decreased activity of complement receptor',''),('HP:0025546','Abnormal mean corpuscular hemoglobin concentration','A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.'),('HP:0025547','Decreased mean corpuscular hemoglobin concentration','A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.'),('HP:0025548','Increased mean corpuscular hemoglobin concentration','An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).'),('HP:0025549','Eccentric visual fixation','A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.'),('HP:0025550','Elevated circulating ribitol concentration','An increase above the normal concentration of ribitol in the blood.'),('HP:0025551','Optic nerve misrouting','Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).'),('HP:0025552','Periorbital purpura','Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.'),('HP:0025553','Periorbital ecchymosis with tarsal plate sparing','Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.'),('HP:0025554','Yellow nodule','A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).'),('HP:0025555','Periungual teleangiectasia','Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.'),('HP:0025558','Lamellar cataract with riders','Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.'),('HP:0025559','Coronary cataract','A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.'),('HP:0025560','Anterior chamber cells','Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025561','Anterior chamber cells grade 1+','Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025562','Anterior chamber cells grade 0.5+','Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025563','Anterior chamber cells grade 0','Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025564','Anterior chamber cells grade 2+','Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025565','Anterior chamber cells grade 3+','Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025566','Anterior chamber cells grade 4+','Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.'),('HP:0025567','Central serous chorioretinopathy','An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.'),('HP:0025568','Abnormal morphology of the choroidal vasculature',''),('HP:0025569','Polypoidal choroidal vasculopathy','The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.'),('HP:0025570','Choroidal vascular hyperpermeability','Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).'),('HP:0025571','Christmas tree cataract','A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.'),('HP:0025572','Punctal stenosis','Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.'),('HP:0025573','Mild myopia','A mild form of myopia with up to -3.00 diopters.'),('HP:0025574','Macular hemorrhage',''),('HP:0025575','Abnormal superior vena cava morphology','Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.'),('HP:0025576','Abnormal inferior vena cava morphology','Any structural anomaly of the principal vein draining blood from the lower portion of the body.'),('HP:0025578','Aortic valve prolapse','Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.'),('HP:0025579','Abnormal left atrium morphology','Any structural abnormality of the left atrium.'),('HP:0025580','Abnormal right atrium morphology','Any structural abnormality of the right atrium.'),('HP:0025581','Foveal hemorrhage','Bleeding occurring within the fovea.'),('HP:0025582','Submacular hemorrhage','Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.'),('HP:0025583','Tapetal-like fundal reflex','Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this `metallic` sheen appearance as it is thought to be similar to the `tapetal` reflex seen in the eyes of certain animals.'),('HP:0025584','Hypotropia','A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.'),('HP:0025585','Hyperphoria','Tendency for the visual axis of one eye to be higher than that of the other.'),('HP:0025586','Hypertropia','A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.'),('HP:0025587','Hyperdeviation','A type of strabismus in which the visual axis of one eye is higher than that of the other.'),('HP:0025588','Hypodeviation','A type of strabismus in which the visual axis of one eye is lower than that of the other.'),('HP:0025589','Cyclodeviation','Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.'),('HP:0025590','Abnormal extraocular muscle physiology','A functional anomaly of the muscles of the eye.'),('HP:0025591','Abnormal superior oblique muscle physiology','A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.'),('HP:0025592','Superior oblique muscle weakness','Decreased strength of the superior oblique muscle.'),('HP:0025593','Superior oblique muscle restriction','Mechanical limitation of the range of movement of the superior oblique muscle.'),('HP:0025594','Superior oblique muscle overaction','An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.'),('HP:0025595','Superior oblique muscle underaction','Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0025596','Abnormal inferior oblique muscle physiology','A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.'),('HP:0025597','Inferior oblique muscle restriction','Mechanical limitation of the range of movement of the inferior oblique muscle.'),('HP:0025598','Inferior oblique muscle weakness','Decreased strength of the inferior oblique muscle.'),('HP:0025599','Inferior oblique muscle overaction','A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.'),('HP:0025600','Abnormal inferior rectus muscle physiology','A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.'),('HP:0025601','Inferior rectus muscle weakness','Decreased strength of the inferior rectus muscle.'),('HP:0025602','Inferior rectus muscle restriction','Mechanical limitation of the range of movement of the inferior rectus muscle.'),('HP:0025603','Abnormal superior rectus muscle physiology','A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.'),('HP:0025604','Orbital schwannoma','A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.'),('HP:0025605','Lid lag on downgaze','Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.'),('HP:0025606','Abnormal medial rectus muscle physiology','A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.'),('HP:0025607','Upper eyelid entropion','An inward turning (inversion) of the margin of the upper eyelid.'),('HP:0025608','Cicatricial ectropion','An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.'),('HP:0025609','Anterior blepharitis','A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.'),('HP:0025610','Posterior blepharitis','A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.'),('HP:0025611','Epicanthus superciliaris','A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).'),('HP:0025612','Corneal astigmatism','A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.'),('HP:0025613','Focal emotional seizure','Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.'),('HP:0025615','Abscess',''),('HP:0025616','Sterile abscess','An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.'),('HP:0025617','Abnormal plasma cell count','An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.'),('HP:0025618','Reduced plasma cell count','An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.'),('HP:0025619','Elevated plasma cell count','An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.'),('HP:0025620','Abnormal proportion of CD4+ central memory cells','An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.'),('HP:0025621','obsolete Increased proportion of CD4+ central memory cells',''),('HP:0025622','obsolete Decreased proportion of CD4+ central memory cells',''),('HP:0025623','Abnormal proportion of CD4+ effector memory cells','An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0025624','Reduced proportion of CD4+ effector memory T cells','An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0025625','Elevated proportion of CD4+ effector memory T cells','An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.'),('HP:0025626','Increased circulating oleate level','An abnormally high concentration of oleic acid (oleate) in the blood circulation.'),('HP:0025627','Increased circulating octadecanoate level','An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).'),('HP:0025628','Increased circulating myristoleate level','An abnormally high concentration of myristoleate in the blood circulation.'),('HP:0025629','Anti-myelin-associated glycoprotein antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).'),('HP:0025630','Argininosuccinic aciduria','Increased amount of argininosuccinate in the urine.'),('HP:0025631','Alpha-aminobutyric aciduria','Increased amount of alpha-aminobutyric acid in the urine.'),('HP:0025632','Reduced reactive oxygen species production in neutrophils',''),('HP:0025633','Abnormal ureter morphology','A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.'),('HP:0025634','Abnormal ureter physiology','A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.'),('HP:0025635','Ureteral polyp','A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.'),('HP:0025636','Endometritis','Inflammation of the inner lining of the uterus (endometrium).'),('HP:0025637','Vasospasm','Narrowing of an artery due to constriction of the blood vessels.'),('HP:0025638','Elevated urinary N-butyrylglycine','An increased level of N-butyrylglycine in the urine.'),('HP:0025639','Increased urinary zinc level','An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.'),('HP:0025640','Abnormal urinary mineral level','An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.'),('HP:0025641','Elevated circulating glycolate concentration','An abnormally increased concentration of glycolate in the blood circulation.'),('HP:0025643','Tarlov cyst','A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.'),('HP:0030000','EMG: repetitive nerve stimulation abnormality','Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.'),('HP:0030001','Lagopthalmos','A condition in which the eyelids do not close to cover the eye completely.'),('HP:0030002','Nocturnal lagophthalmos','The inability to close the eyelids during sleep.'),('HP:0030003','Paralytic lagophthalmos','A type of lagophthalmos that occurs in association with facial nerve palsy.'),('HP:0030004','Cicatricial lagophthalmos','A type of lagophthalmos that occurs following trauma or surgery.'),('HP:0030005','Capillary leak','An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.'),('HP:0030006','Single fiber EMG abnormality','Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.'),('HP:0030007','EMG: positive sharp waves','These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.'),('HP:0030008','Cervical agenesis','Congenital absence of the cervix.'),('HP:0030009','Cervical insufficiency','A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent'),('HP:0030010','Hydrometrocolpos','Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.'),('HP:0030011','Imperforate hymen','A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.'),('HP:0030012','Abnormal female reproductive system physiology',''),('HP:0030013','obsolete Endometriosis',''),('HP:0030014','Female sexual dysfunction','A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity'),('HP:0030015','Female anorgasmia','The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.'),('HP:0030016','Dyspareunia','Recurrent or persistent genital pain associated with sexual intercourse.'),('HP:0030017','Vaginismus','Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.'),('HP:0030018','Decreased female libido','Dminished sexual desire in female.'),('HP:0030019','Increased female libido','Elevated sexual desire in female'),('HP:0030021','Auricular tag','Small protrusion within the pinna.'),('HP:0030022','Question mark ear','Cleft between the helix and the lobe.'),('HP:0030023','Quelprud nodule','Small cartilaginous prominence on the posterior concha.'),('HP:0030024','Pretragal ectopia','Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.'),('HP:0030025','Auricular pit','Small indentation in the lower part of the ascending helix, concha, or in the crus helix.'),('HP:0030026','Squared superior portion of helix','Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.'),('HP:0030027','Abnormality of the nasal cartilage','A morphological anomaly of the nasal cartilage.'),('HP:0030028','Absent nasal cartilage','Lack of a palpable nasal cartilage.'),('HP:0030029','Splayed fingers','Divergence of digits along the A/P axis (in the plane of the palm).'),('HP:0030030','Absent ray','The absence of all phalanges of a digit and the associated metacarpal /metatarsal.'),('HP:0030031','Small toe','Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.'),('HP:0030032','Partial absence of foot','An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.'),('HP:0030033','Small finger','Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.'),('HP:0030034','Diffuse glomerular basement membrane lamellation','Presence of abnormal additional layers of the basement membrane of the glomerulus.'),('HP:0030035','Struvite nephrolithiasis','Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).'),('HP:0030036','Isothenuria','Inability of the kidneys to produce either concentrated or dilute urine.'),('HP:0030037','Bifid ureter','Incomplete duplication of the ureter.'),('HP:0030038','Enchondroma','A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.'),('HP:0030039','Fused thoracic vertebrae','A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.'),('HP:0030040','Fused lumbar vertebrae','A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.'),('HP:0030041','Schmorl`s node','A Schmorl`s node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.'),('HP:0030042','Incomplete ossification of pubis','Failure to complete ossification (maturation and calcification) of the pubic bone.'),('HP:0030043','Hip subluxation','A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.'),('HP:0030044','Flexion contracture of digit','A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.'),('HP:0030045','Serpentine fibula','Elongated curved (S-shaped) fibulae.'),('HP:0030046','Hypoglycosylation of alpha-dystroglycan','A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.'),('HP:0030047','Abnormality of lateral ventricle','A morphological anomaly of the lateral ventricle.'),('HP:0030048','Colpocephaly','Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.'),('HP:0030049','Brain abscess','A collection of pus, immune cells, and other material in the brain.'),('HP:0030050','Narcolepsy','An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.'),('HP:0030051','Tip-toe gait','An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.'),('HP:0030052','Inguinal freckling','The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.'),('HP:0030053','Stiff skin','An induration (hardening) of the skin'),('HP:0030054','Perifollicular fibrosis','Presence of excess fibrous connective tissue surrounding hair follicules.'),('HP:0030055','Hyperconvex toenail','When viewed on end (with the tip of the toe pointing toward the examiner`s eye) the curve of the toenail forms a tighter curve of convexity.'),('HP:0030056','Uncombable hair','Hair that is disorderly, stands out from the scalp, and cannot be combed flat.'),('HP:0030057','Autoimmune antibody positivity','The presence of an antibody in the blood circulation that is directed against the organism`s own cells or tissues.'),('HP:0030058','Sickled erythrocytes','An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).'),('HP:0030059','Mitochondrial depletion','An abnormal reduction in mitochondrial DNA content of cells.'),('HP:0030060','Nervous tissue neoplasm','A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).'),('HP:0030061','Neuroectodermal neoplasm','A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.'),('HP:0030062','Craniopharyngioma','A benign pituitary-region neoplasm that originates from Rathke`s pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system.'),('HP:0030063','Neuroepithelial neoplasm','A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.'),('HP:0030064','Neurocytoma','A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.'),('HP:0030065','Primitive neuroectodermal tumor','A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.'),('HP:0030066','Ependymoblastoma','A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.'),('HP:0030067','Peripheral primitive neuroectodermal neoplasm','A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.'),('HP:0030068','Olfactory esthesioneuroblastoma','A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.'),('HP:0030069','Primary central nervous system lymphoma','A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.'),('HP:0030070','Central primitive neuroectodermal tumor','A primitive neuroectodermal neoplasm that occurs in the central nervous system.'),('HP:0030071','Medulloepithelioma','A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.'),('HP:0030072','Paranasal sinus neoplasm','A tumor that originates in the paranasal sinus.'),('HP:0030073','obsolete Pharyngeal neoplasm',''),('HP:0030074','Chemodectoma','A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.'),('HP:0030075','Ductal carcinoma in situ','Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.'),('HP:0030076','Lobular carcinoma in situ',''),('HP:0030077','Bronchial neoplasm','A tumor originating in a bronchus.'),('HP:0030078','Lung adenocarcinoma',''),('HP:0030079','Cervix cancer','A tumor of the uterine cervix.'),('HP:0030080','Burkitt lymphoma','A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.'),('HP:0030081','Punctate periventricular T2 hyperintense foci','Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.'),('HP:0030082','Abnormal drinking behavior','Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.'),('HP:0030083','Salt craving','An excessive desire to eat salt (sodium chloride) or salty foods.'),('HP:0030084','Clinodactyly','An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).'),('HP:0030085','Abnormal CSF lactate level','Abnormal concentration of lactate in the cerebrospinal fluid.'),('HP:0030086','Reduced CSF lactate','Decreased concentration of lactate in the cerebrospinal fluid.'),('HP:0030087','Abnormal serum testosterone level','An anomalous concentration of testosterone in the blood.'),('HP:0030088','Increased serum testosterone level','An elevated circulating testosterone level in the blood.'),('HP:0030089','Abnormal muscle fiber protein expression','An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.'),('HP:0030090','Abnormal muscle fiber merosin expression','An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.'),('HP:0030091','Absent muscle fiber merosin','Lack of merosin protein in the muscle biopsy.'),('HP:0030092','Reduced muscle fiber merosin','A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.'),('HP:0030093','Abnormal muscle fiber laminin beta 1','A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.'),('HP:0030094','Reduced muscle fiber laminin beta 1','A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.'),('HP:0030095','Reduced muscle collagen VI','A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.'),('HP:0030096','Abnormal muscle fiber dystrophin expression','A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.'),('HP:0030097','Absent muscle dystrophin expression','Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.'),('HP:0030098','Reduced muscle dystrophin expression','A decreased amount of dystrophin in muscle fiber tissue.'),('HP:0030099','Reduced muscle fiber alpha dystroglycan','Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.'),('HP:0030100','Abnormal muscle fiber alpha sarcoglycan','Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030101','Absent muscle fiber alpha sarcoglycan','Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.'),('HP:0030102','Reduced muscle fiber alpha sarcoglycan','A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.'),('HP:0030103','Abnormal muscle fiber beta sarcoglycan','Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030104','Abnormal muscle fiber gamma sarcoglycan','Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030105','Abnormal muscle fiber delta sarcoglycan','Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.'),('HP:0030106','Absent muscle fiber beta sarcoglycan','Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.'),('HP:0030107','Reduced muscle fiber beta sarcoglycan','Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.'),('HP:0030108','Reduced muscle fiber gamma sarcoglycan','Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.'),('HP:0030109','Absent muscle fiber gamma sarcoglycan','Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.'),('HP:0030110','Absent muscle fiber delta sarcoglycan','Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.'),('HP:0030111','Reduced muscle fiber delta sarcoglycan','Abnormally reduced amount of delta sarcoglycan in muscle.'),('HP:0030112','Abnormal muscle fiber alpha dystroglycan','A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.'),('HP:0030113','Abnormal muscle fiber dysferlin','A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing.'),('HP:0030114','Absent muscle fiber dysferlin','Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.'),('HP:0030115','Reduced muscle fiber dysferlin','Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.'),('HP:0030116','Abnormal muscle fiber emerin','A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.'),('HP:0030117','Absent muscle fiber emerin','Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.'),('HP:0030118','Reduced muscle fiber emerin','Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.'),('HP:0030119','Abnormal muscle fiber calpain-3','A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.'),('HP:0030120','Absent muscle fiber calpain-3','Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.'),('HP:0030121','Reduced muscle fiber calpain-3','Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.'),('HP:0030122','Reduced muscle fiber perlecan','Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).'),('HP:0030123','Abnormal muscle fiber lamin A/C','A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.'),('HP:0030124','Reduced muscle fiber lamin A/C','A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.'),('HP:0030125','Sacralization of the fifth lumbar vertebra','A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.'),('HP:0030126','Abnormality of the endometrium','An anomaly of the inner mucous membrane of the uterus.'),('HP:0030127','Endometriosis','The growth of endometrial tissue outside the uterus.'),('HP:0030129','Impaired ristocetin cofactor assay activity','Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.'),('HP:0030130','Impaired von Willibrand factor collagen binding activity','Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.'),('HP:0030131','Abnormal von Willebrand factor multimer distribution','Deviation from the normal von Willebrand factor multimer pattern.'),('HP:0030132','Absence of large von Willibrand factor multimers','Absence of large von Willebrand Factor multimers on gel electrophoresis.'),('HP:0030133','Abnormal presence of ultra-large von Willebrand factor multimers','Detection of abnormal ultra-large von Willebrand factor multimers.'),('HP:0030134','Total absence von Willebrand factor multimers','Complete absence of all von Willebrand factor multimers.'),('HP:0030135','Absence of intermediate von Willibrand factor multimers','Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.'),('HP:0030136','Enhanced ristocetin cofactor assay activity','Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.'),('HP:0030137','Prolonged bleeding following circumcision','Bleeding that persists for a longer than usual time following circumcision.'),('HP:0030138','Excessive bleeding from superficial cuts','An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.'),('HP:0030139','Excessive bleeding after a venipuncture','An abnormal high amount of bleeding following the procedure of taking a blood sample.'),('HP:0030140','Oral cavity bleeding','Recurrent or excessive bleeding from the mouth.'),('HP:0030141','Abnormality of the posterior hairline','An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.'),('HP:0030142','Abnormal bowel sounds','An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.'),('HP:0030143','Hyperactive bowel sounds','An increased amount of bowel sounds.'),('HP:0030144','Hypoactive bowel sounds','An decreased amount of bowel sounds.'),('HP:0030145','Lack of bowel sounds','Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.'),('HP:0030146','Abnormal liver parenchyma morphology','A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.'),('HP:0030147','Truncal titubation','Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.'),('HP:0030148','Heart murmur','An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.'),('HP:0030149','Cardiogenic shock','Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.'),('HP:0030150','Plasmacytosis','An abnormally increased number of plasma cells in tissues, exudates, or blood'),('HP:0030151','Cholangitis','Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.'),('HP:0030152','obsolete Biliary tract neoplasm',''),('HP:0030153','Cholangiocarcinoma','Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.'),('HP:0030154','Gallbladder perforation','Rupture of the wall of the gallbladder.'),('HP:0030155','Scrotal pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.'),('HP:0030156','Bence Jones Proteinuria','The presence of free monoclonal immunoglobulin light chains in the urine.'),('HP:0030157','Flank pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.'),('HP:0030158','Cervical ectropion','Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu'),('HP:0030159','Cervical polyp','Abnormal growth of tissue projecting from a mucous membrane of the endocervix.'),('HP:0030160','Cervicitis','Inflammation of the uterine cervix.'),('HP:0030161','Vaginal pruritus','A sensation of itching in the vagina.'),('HP:0030162','Glomerulomegaly','Abnormally large size of glomeruli.'),('HP:0030163','Abnormal vascular physiology','Abnormality of vascular function.'),('HP:0030164','Jaw claudication','Pain in the jaw or ear induced by chewing or otherwise moving the jaw.'),('HP:0030165','Temporal artery tortuosity','The presence of an increased number of twists and turns of the temporal artery.'),('HP:0030166','Night sweats','Occurence of excessive sweating during sleep.'),('HP:0030167','Antimitochondrial antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.'),('HP:0030168','Dilated superficial abdominal veins','Increase in diameter of the veins located underneath the skin of the abdomen.'),('HP:0030169','Gastric varix','Extreme dilation of the submucusoal veins in the stomach.'),('HP:0030170','Cystic artery pseudoaneurysm','Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.'),('HP:0030171','Perirenal hematoma','A collection of clotted blood surrounding the kidney.'),('HP:0030172','Peripheral amyelination','Congenital absence of the myelin sheath on a nerve.'),('HP:0030173','Peripheral hypermyelination','Increased amount of peripheral myelination.'),('HP:0030174','Increased peripheral myelin thickness','Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.'),('HP:0030175','Myelin tomacula','The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).'),('HP:0030176','Asymmetric peripheral demyelination','Loss of myelin from peripheral nerves in a pattern that differs between right and left.'),('HP:0030177','Abnormality of peripheral nervous system electrophysiology','An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.'),('HP:0030178','Abnormality of central nervous system electrophysiology',''),('HP:0030179','Abnormal peripheral action potential amplitude','An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.'),('HP:0030180','Oppenheim reflex','Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).'),('HP:0030181','Gordon reflex','Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).'),('HP:0030182','Tetraplegia/tetraparesis','Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.'),('HP:0030183','Impaired visually enhanced vestibulo-ocular reflex','The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).'),('HP:0030185','Isometric tremor','An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).'),('HP:0030186','Kinetic tremor','Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.'),('HP:0030187','Titubation','Nodding movement of the head or body.'),('HP:0030188','Tremor by anatomical site','Tremor classified by the affected body part.'),('HP:0030190','Oral motor hypotonia','Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.'),('HP:0030191','Abnormal peripheral nervous system synaptic transmission','An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.'),('HP:0030192','Fatigable weakness of bulbar muscles','A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030193','Fatigable weakness of chewing muscles','A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030194','Fatigable weakness of speech muscles','A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030195','Fatigable weakness of swallowing muscles','A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030196','Fatigable weakness of respiratory muscles','A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030197','Fatigable weakness of skeletal muscles','A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030198','Fatigable weakness of distal limb muscles','A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030199','Fatigable weakness of neck muscles','A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030200','Fatiguable weakness of proximal limb muscles','A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.'),('HP:0030201','Response to drugs acting on neuromuscular transmission','Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.'),('HP:0030202','Favorable response of weakness to acetylcholine esterase inhibitors','Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.'),('HP:0030203','Unfavorable response of muscle weakness to acetylcholine esterase inhibitors','Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.'),('HP:0030205','Increased jitter at single fiber EMG','The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).'),('HP:0030206','EMG: incremental response of compound muscle action potential to repetitive nerve stimulation','A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.'),('HP:0030207','Paradoxical respiration','Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.'),('HP:0030208','Acetylcholine receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor.'),('HP:0030209','Calcium channel antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.'),('HP:0030210','Muscle specific kinase antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).'),('HP:0030211','Slow pupillary light response','Reduced velocity and acceleration in the pupillary light response.'),('HP:0030212','Collectionism','Excessive or pathological tendency to save and collect possessions.'),('HP:0030213','Emotional blunting','Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.'),('HP:0030214','Hypersexuality','Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.'),('HP:0030215','Inappropriate crying','Uncontrolled episodes of crying, without apparent motivating stimuli.'),('HP:0030216','Inertia','Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).'),('HP:0030217','Limb apraxia','Difficulty in performing the correct execution of limbs movements in absence of motor impairment.'),('HP:0030218','Punding','Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.'),('HP:0030219','Semantic dementia','A progressive loss of the ability to remember the meaning of words, faces and objects.'),('HP:0030220','Socially inappropriate behavior','Behavior that is not in line with social norms.'),('HP:0030221','Sweet craving','Excessive desire to eat sweet foods.'),('HP:0030222','Visual agnosia','Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.'),('HP:0030223','Perseveration','Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact.'),('HP:0030224','Abnormal muscle fiber desmin','A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein.'),('HP:0030225','Accumulation of muscle fiber desmin','Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.'),('HP:0030226','Abnormal muscle fiber myotilin','A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein.'),('HP:0030227','Accumulation of muscle fiber myotilin','Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.'),('HP:0030228','Abnormal muscle fiber valosin-containing protein','A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.'),('HP:0030229','Accumulation of muscle fiber valosin-containing protein','Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.'),('HP:0030230','Central core regions in muscle fibers','The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.'),('HP:0030231','Glycogen accumulation in muscle fiber lysosomes','An increased amount of glycogen in muscle tissue found specifically in lysosomes.'),('HP:0030232','Increased sarcoplasmic glycogen','Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.'),('HP:0030233','Bethlem sign','Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.'),('HP:0030234','Highly elevated creatine kinase','An increased CPK level between 4X and 50X above the upper normal level.'),('HP:0030235','Extremely elevated creatine kinase','An increased creatine kinase level more than 50X above the upper normal level.'),('HP:0030236','Abnormality of muscle size','Abnormalities of the overall muscle bulk based on clinical observation.'),('HP:0030237','Hand muscle weakness','Reduced strength of the musculature of the hand.'),('HP:0030239','Hypoplasia of the upper arm musculature','Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.'),('HP:0030241','Hypoplasia of deltoid muscle','Underdevelopment of the deltoid muscle.'),('HP:0030242','Portal vein thrombosis','Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.'),('HP:0030243','Hepatic vein thrombosis','An obstruction in the veins of the liver caused by a blood clot (thrombosis).'),('HP:0030244','Maternal fever in pregnancy','The occurence of an elevated body temperature of the mother during pregnancy.'),('HP:0030245','Intrapartum fever','The occurence of maternal fever during labor.'),('HP:0030246','Maternal first trimester fever','The occurence of fever in a mother during the first trimester of pregnancy.'),('HP:0030247','Splanchnic vein thrombosis','The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).'),('HP:0030248','Mesenteric venous thrombosis','A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).'),('HP:0030249','Enanthema','A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.'),('HP:0030250','Pulmonary granulomatosis','The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.'),('HP:0030251','Absence of memory B cells','Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.'),('HP:0030252','Absence of mature B cells','Complete lack of mature B cells, that is, of B cells that have left the bone marrow.'),('HP:0030253','Defective T cell proliferation','A reduced ability of a T cell population to expand by cell division following T cell activation.'),('HP:0030254','Nail bed hemorrhage','Small areas of bleeding (hemorrhage) under the fingernail or toenail.'),('HP:0030255','Large intestinal polyposis','The presence of multiple polyps in the large intestine.'),('HP:0030256','Small intestinal polyposis','The presence of multiple polyps in the small intestine.'),('HP:0030257','Freckled genitalia','One or more brown punctate macules on the skin of the genitalia.'),('HP:0030258','Hyperpigmented genitalia','Localized or generalized increased genital pigmentation.'),('HP:0030259','Hypopigmented genitalia','Localized or generalized decreased genital pigmentation.'),('HP:0030260','Microphallus','Length of penis more than 2 SD below the mean for age accompanied by hypospadias.'),('HP:0030261','Absent penis','Lack of recognizable penile structures.'),('HP:0030262','Narrow penis','Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.'),('HP:0030263','Torsion of the penis','Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.'),('HP:0030264','Webbed penis','Ventral skinfold extending from penis to scrotum.'),('HP:0030265','Wide penis','Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.'),('HP:0030266','obsolete Abnormality of the sacroiliac notch',''),('HP:0030267','Calcification of the interosseus membrane of the forearm','Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.'),('HP:0030268','Hyperplastic callus formation','Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.'),('HP:0030269','Increased serum insulin-like growth factor 1','An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.'),('HP:0030270','Elevated red cell adenosine deaminase level','Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.'),('HP:0030271','Reduced erythrocyte 2,3-diphosphoglycerate concentration','This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.'),('HP:0030272','Abnormal erythrocyte enzyme level','An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.'),('HP:0030273','Reduced red cell adenosine deaminase level','Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.'),('HP:0030274','Accessory scrotum','Additional scrotum, or part of a scrotum in an abnormal location.'),('HP:0030275','Ectopic scrotum','Scrotum in a position other than the usual position inferior to the base of the penis.'),('HP:0030276','Small scrotum','Apparently small scrotum for age.'),('HP:0030277','Abnormal vertebral pedicle morphology','Abnormal morphology of a vertebral pedical.'),('HP:0030278','Hypoplastic vertebral pedicle','Underdeveloped vertebral pedicle.'),('HP:0030279','Hypoplastic L5 vertebral pedicle','Underdeveloped pedicle of the fifth lumbar vertebra.'),('HP:0030280','Rib gap','Radiolucent focal defect of a rib shaft.'),('HP:0030281','Cervical C3/C4 vertebral fusion','Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.'),('HP:0030282','Posterior rib gap','Radiolucent focal defect of the posterior portion of a rib shaft. The `gaps` may lead to flail chest.'),('HP:0030283','Partial absence of the septum pellucidum','Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.'),('HP:0030284','Triangular tongue','A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.'),('HP:0030285','Splayed superior cerebellar peduncle','Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.'),('HP:0030286','Atrophic superior cerebellar peduncle','Atrophy of the superior cerebellar peduncle.'),('HP:0030289','Flattened femoral epiphysis','An abnormal flattening of an epiphysis of femur.'),('HP:0030290','Unossified sacrum','Lack of ossification of the sacrum.'),('HP:0030291','Lower-limb metaphyseal irregularity','Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.'),('HP:0030292','Tibial metaphyseal irregularity','Irregularity of the normally smooth surface of a metaphysis of a tibia.'),('HP:0030293','Fibular metaphyseal irregularity','Irregularity of the normally smooth surface of a metaphysis of a fibula.'),('HP:0030294','Metaphyseal chondromatosis of tibia',''),('HP:0030295','Metaphyseal chondromatosis of femur',''),('HP:0030296','Metaphyseal chondromatosis of radius',''),('HP:0030297','Metaphyseal chondromatosis of ulna',''),('HP:0030298','Metaphyseal chondromatosis of humerus',''),('HP:0030299','Distal femoral metaphyseal abnormality','An anomaly of the metaphysis of the distal femur (close to the knee).'),('HP:0030300','10 pairs of ribs','Presence of only 10 (instead of the usual 12) pairs of ribs.'),('HP:0030301','Abnormality of the anterior commissure','An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.'),('HP:0030302','Agenesis of the anterior commissure','Absence of the anterior commissure.'),('HP:0030303','Hypoplastic anterior commissure','Underdevelopment of the anterior commissure.'),('HP:0030304','Abnormal number of vertebrae','A deviation from the normal number of vertebrae in the spinal column.'),('HP:0030305','Decreased number of vertebrae',''),('HP:0030306','11 thoracic vertebrae','The presence of 11 instead of the normal 12 thoracic vertebrae.'),('HP:0030307','Flared lower limb metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.'),('HP:0030308','Flared distal tibial metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.'),('HP:0030309','Flared distal fibular metaphysis','The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.'),('HP:0030310','Upper extremity joint dislocation','Displacement or malalignment of one or more joints in the upper extremity (arm).'),('HP:0030311','Lower extremity joint dislocation','Displacement or malalignment of one or more joints in the lower extremity (leg).'),('HP:0030312','Obliteration of the calvarial diploe','Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).'),('HP:0030313','Abnormal periosteum morphology','An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.'),('HP:0030314','Periostosis','Abnormal deposition of periosteal bone.'),('HP:0030318','Angular cheilitis','A type of inflammation of the lips involving one or both of the corners of the mouth.'),('HP:0030319','Weakness of facial musculature','Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).'),('HP:0030320','Increased intervertebral space','An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.'),('HP:0030321','Abnormal vertebral artery morphology','An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.'),('HP:0030322','Vertebral artery hypoplasia','Underdevelopment of the vertebral artery.'),('HP:0030323','Unilateral vertebral artery hypoplasia','Underdevelopment of the vertebral artery on one side.'),('HP:0030324','Bilateral vertebral artery hypoplasia','Underdevelopment of the vertebral artery on both sides.'),('HP:0030325','Cervicomedullary schisis','Fissure within the spinal cord of the neck.'),('HP:0030326','Abnormal macrophage count','An anomaly in the number of macrophages.'),('HP:0030327','Abnormal osteoclast count','An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages.'),('HP:0030328','Decreased osteoclast count','Decreased number of osteoclasts.'),('HP:0030329','Retinal thinning','Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).'),('HP:0030330','Multinucleated giant chondrocytes in epiphyseal cartilage','The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.'),('HP:0030331','Impaired stimulus-induced skin wrinkling','A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).'),('HP:0030332','obsolete Abnormal T cell morphology',''),('HP:0030333','Abnormal alpha-beta T cell morphology','A structuraly anomaly of T cells that express an alpha-beta T cell receptor.'),('HP:0030334','Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology','A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.'),('HP:0030335','Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count','A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.'),('HP:0030336','Absence of CD4-positive, CD25-positive regulatory T cells','Lack of CD4+CD25+ T regulatory cells.'),('HP:0030337','Elevated CD4-positive, CD25-positive regulatory T cell count','An increased number of CD4-positive, CD25-positive regulatory T cells.'),('HP:0030338','Abnormal circulating gonadotropin level','An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).'),('HP:0030339','Decreased circulating gonadotropin level','A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).'),('HP:0030340','obsolete Increased circulating gonadotropin level',''),('HP:0030341','Decreased circulating follicle stimulating hormone level','A reduction of the circulating level of follicle-stimulating hormone (FSH).'),('HP:0030344','Decreased circulating luteinizing hormone level','A reduction in the circulating level of luteinizing hormone (LH).'),('HP:0030345','Abnormal circulating luteinizing hormone level','An anomaly of the circulating level of luteinizing hormone (LH).'),('HP:0030346','Abnormal circulating follicle-stimulating hormone level','An anomaly of the circulating level of follicle-stimulating hormone (FSH).'),('HP:0030347','Abnormal circulating androgen level','An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.'),('HP:0030348','Increased circulating androgen level','An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.'),('HP:0030349','Decreased circulating androgen level','A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.'),('HP:0030350','Erythematous papule','A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.'),('HP:0030351','Urticarial plaque','A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.'),('HP:0030352','Abnormal serum insulin-like growth factor 1 level','An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.'),('HP:0030353','Decreased serum insulin-like growth factor 1','A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.'),('HP:0030354','Abnormal serum interferon level','Abnormal levels of interferon in the blood.'),('HP:0030355','Abnormal serum interferon-gamma level','Abnormal levels of interferon gamma measured in the blood circulation.'),('HP:0030356','Increased serum interferon-gamma level','An elevation in the concentration of interferon gamma measured in the blood circulation.'),('HP:0030357','Small cell lung carcinoma','Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.'),('HP:0030358','Non-small cell lung carcinoma',''),('HP:0030359','Squamous cell lung carcinoma','A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.'),('HP:0030360','Large cell lung carcinoma','A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.'),('HP:0030361','Abnormal circulating eicosanoid concentration','Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).'),('HP:0030362','Reduced muscle carnitine level','A reduction in the level of carnitine in muscle tissue.'),('HP:0030363','Primary Caesarian section','Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.'),('HP:0030364','Secondary Caesarian section','Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.'),('HP:0030365','Vaginal birth after Caesarian','Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.'),('HP:0030366','Delivery by Odon device','The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.'),('HP:0030367','Finger hyperphalangy','Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.'),('HP:0030368','Hyperphalangy of the 2nd finger','An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.'),('HP:0030369','Induced vaginal delivery','Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.'),('HP:0030370','Abnormal proportion of naive B cells','A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.'),('HP:0030371','Increased proportion of naive B cells','An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.'),('HP:0030372','Decreased proportion of naive B cells','A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.'),('HP:0030373','Abnormal proportion of memory B cells','A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).'),('HP:0030374','Decreased proportion of memory B cells','A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).'),('HP:0030375','Increased proportion of memory B cells','An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).'),('HP:0030376','Abnormal proportion of immature B cells','A deviation from normal proportion immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they`re specific (IgM+/IgD+).'),('HP:0030377','Increased proportion of immature B cells','An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they`re specific (IgM+/IgD+).'),('HP:0030378','Decreased proportion of immature B cells','A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they`re specific (IgM+/IgD+).'),('HP:0030379','Abnormal proportion of transitional B cells','A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.'),('HP:0030380','Decreased proportion of transitional B cells','A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.'),('HP:0030381','Increased proportion of transitional B cells','An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.'),('HP:0030383','Abnormal proportion of marginal zone B cells','A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.'),('HP:0030384','Decreased proportion of marginal zone B cells','A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.'),('HP:0030385','Increased proportion of marginal zone B cells','An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.'),('HP:0030386','Abnormal proportion of class-switched memory B cells','A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.'),('HP:0030387','Increased proportion of class-switched memory B cells','An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.'),('HP:0030388','Decreased proportion of class-switched memory B cells','A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.'),('HP:0030389','Abnormal circulating thromboxane concentration','Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.'),('HP:0030390','Reduced circulating leukotriene C4 concentration','An abnormally decreased concentration of leukotriene C4 in the blood circulation.'),('HP:0030391','Spoken Word Recognition Deficit','Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.'),('HP:0030392','Choroid plexus carcinoma','Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.'),('HP:0030393','Endolymphatic sac tumor','A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).'),('HP:0030394','Fallopian tube carcinoma','Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.'),('HP:0030396','Abnormal platelet granule secretion','Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.'),('HP:0030397','Abnormal platelet dense granule secretion','Abnormal release of dense granules from platelets.'),('HP:0030398','Abnormal platelet ATP dense granule secretion','Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).'),('HP:0030399','Abnormal platelet alpha granule secretion','Abnormal release of alpha granule contents from platelets.'),('HP:0030400','Abnormal platelet lysosome secretion','Abnormal release of lysosome contents from platelets.'),('HP:0030401','Abnormal platelet dense granule ATP/ADP ratio','Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.'),('HP:0030402','Abnormal platelet aggregation','An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.'),('HP:0030403','Spontaneous platelet aggregation','Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.'),('HP:0030404','Glucagonoma','An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.'),('HP:0030405','Pancreatic endocrine tumor','A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.'),('HP:0030406','Primary peritoneal carcinoma','A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.'),('HP:0030407','Pineocytoma','A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I).'),('HP:0030408','Pineoblastoma','Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.'),('HP:0030409','Renal transitional cell carcinoma','A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.'),('HP:0030410','Sebaceous gland carcinoma','A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)'),('HP:0030411','Jejunal adenocarcinoma','A malignant epithelial tumor with a glandular organization that originates in the jejunum.'),('HP:0030412','Ileal adenocarcinoma','A malignant epithelial tumor with a glandular organization that originates in the ileum.'),('HP:0030413','Squamous cell carcinoma of the tongue','A carcinoma derived from a squamous epithelial cell of the tongue.'),('HP:0030414','Verrucous cell carcinoma of the tongue','A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.'),('HP:0030415','Sarcomatoid carcinoma of the tongue','Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.'),('HP:0030416','Vulvar neoplasm','A tumor (abnormal growth of tissue) of the female external genital tract (vulva).'),('HP:0030417','Squamous cell carcinoma of the vulva','A cancer that originates in the squamous cells that line the surface of the vulva.'),('HP:0030418','Vulvar melanoma','A type of vulvar cancer that originates from melanocytes of the vulva.'),('HP:0030419','Bartholin gland carcinoma','A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.'),('HP:0030420','Vulvar adenocarcinoma','An adenocarcinoma arising in the vulva.'),('HP:0030421','Epididymal neoplasm','A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.'),('HP:0030422','obsolete Papillary cystadenoma of the epididymis',''),('HP:0030423','Splenic cyst','A closed sac located in the spleen.'),('HP:0030424','Epididymal cyst','A smooth, extratesticular, spherical cyst in the head of the epididymis.'),('HP:0030425','Calcified ovarian cyst','A cyst of the ovary that exhibits deposition of calcium salts.'),('HP:0030426','Ossifying fibroma','A benign central bone tumor composed of fibrous connective tissue within which bone is formed.'),('HP:0030427','Ossifying fibroma of the jaw','A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.'),('HP:0030428','Cutaneous myxoma','A myxoma originating in the skin.'),('HP:0030429','Juvenile nasopharyngeal angiofibroma','A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.'),('HP:0030430','Neuroma','A tumor made up of nerve cells and nerve fibers.'),('HP:0030431','Osteochondroma','A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.'),('HP:0030432','Chondroblastoma','A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.'),('HP:0030433','Osteoid osteoma','A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.'),('HP:0030434','Pilomatrixoma','Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.'),('HP:0030436','Fibrofolliculoma','Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.'),('HP:0030437','Anal canal neoplasm',''),('HP:0030438','Anal canal squamous cell carcinoma','A squamous cell carcinoma that originates in the anal canal.'),('HP:0030439','Anal canal adenocarcinoma','An adenoma carcinoma that originates in the anal canal.'),('HP:0030440','Anal margin neoplasm','A tumor of the anal margin.'),('HP:0030441','Anal margin Paget`s disease','An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget`s cells, appearing as large rounded vacuolated cells.'),('HP:0030442','Anal margin squamous cell carcinoma','A squamous cell carcinoma that originates in the skin of the anal margin.'),('HP:0030443','Anal margin basal cell carcinoma','A basal cell carcinoma that originates in the anal margin.'),('HP:0030444','Anal margin melanoma','A melanoma that originates in the anal margin.'),('HP:0030445','Pulmonary carcinoid tumor','A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.'),('HP:0030446','Atypical pulmonary carcinoid tumor',''),('HP:0030447','Merkel cell skin cancer','A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.'),('HP:0030448','Soft tissue sarcoma','A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.'),('HP:0030449','Therapeutic abortion','Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother`s life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.'),('HP:0030450','Neuroplasm of the autonomic nervous system','A tumor that arises from an element of the autonomic nervous system.'),('HP:0030451','Mesenteric cyst','A closed fluid filled sac originating from the mesentary.'),('HP:0030452','Chylolymphatic mesenteric cyst','A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.'),('HP:0030453','Abnormal visual electrophysiology',''),('HP:0030454','Abnormal electrooculogram','The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.'),('HP:0030455','Abnormality of pattern visual evoked potentials',''),('HP:0030456','Abnormality of pattern onset/offset visual evoked potentials',''),('HP:0030457','Abnormal amplitude of pattern onset/offset visual evoked potentials',''),('HP:0030458','Abnormal timing of pattern onset/offset visual evoked potentials',''),('HP:0030460','Abnormal timing of pattern reversal visual evoked potentials',''),('HP:0030461','Abnormal timing of flash visual evoked potentials',''),('HP:0030462','Abnormal amplitude of flash visual evoked potentials',''),('HP:0030463','Asymmetrical distribution of flash visual evoked potentials',''),('HP:0030464','Asymmetrical distribution of pattern reversal visual evoked potentials',''),('HP:0030465','Undetectable light-adapted electroretinogram','No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.'),('HP:0030466','Abnormal full-field electroretinogram',''),('HP:0030467','Abnormal pattern electroretinogram','An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.'),('HP:0030468','Abnormal multifocal electroretinogram',''),('HP:0030469','Abnormal dark-adapted electroretinogram',''),('HP:0030470','Abnormal dark-adapted bright flash electroretinogram',''),('HP:0030471','Abnormal dark-adapted dim flash electroretinogram',''),('HP:0030472','Abnormal light-adapted single flash electroretinogram',''),('HP:0030473','Abnormal light-adapted flicker electroretinogram',''),('HP:0030474','Undetectable dark-adapted electroretinogram',''),('HP:0030475','Abnormal timing of dark-adapted dim flash electroretinogram',''),('HP:0030476','Abnormal amplitude of dark-adapted dim flash electroretinogram',''),('HP:0030477','Abnormal timing of dark-adapted bright flash electroretinogram',''),('HP:0030478','Abnormal amplitude of dark-adapted bright flash electroretinogram',''),('HP:0030479','Abnormal amplitude of light-adapted flicker electroretinogram',''),('HP:0030480','Abnormal timing of light-adapted flicker electroretinogram',''),('HP:0030481','Abnormal amplitude of light-adapted single flash electroretinogram',''),('HP:0030482','Abnormal timing of light-adapted single flash electroretinogram',''),('HP:0030483','Reduced amplitude of dark-adapted bright flash electroretinogram a-wave','An abnormal reduction in the amplitude of the a-wave.'),('HP:0030484','Supernormal dark-adapted bright flash electroretinogram b-wave',''),('HP:0030485','Abnormal amplitude of pattern electroretinogram',''),('HP:0030486','Abnormal timing of pattern electroretinogram',''),('HP:0030487','Abnormal P50/N95 ratio of pattern electroretinogram',''),('HP:0030488','Abnormal central response of multifocal electroretinogram',''),('HP:0030489','Abnormal paracentral response of multifocal electroretinogram',''),('HP:0030490','Exudative vitreoretinopathy',''),('HP:0030491','Choriocapillaris atrophy','Atrophy of the capillary lamina of choroid.'),('HP:0030493','Abnormality of foveal pigmentation','An anomaly of the pigmentation in the fovea centralis.'),('HP:0030494','Macular microaneurysm/hemorrhage','Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).'),('HP:0030495','Abnormality morphology of the macular vasculature','Any structural anomaly of the blood vessels of the macula.'),('HP:0030496','Macular exudate','Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.'),('HP:0030497','Macular cotton wool spot','Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.'),('HP:0030498','Macular thickening','Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.'),('HP:0030499','Macular drusen','Drusen (singular, `druse`) are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch`s membrane of the eye. This class refers to the presence of Drusen in the macula.'),('HP:0030500','Yellow/white lesions of the macula',''),('HP:0030501','Macular crystals','Crystalline deposits in the macula.'),('HP:0030502','Retinoschisis','Splitting of the neuroretinal layers of the retina.'),('HP:0030503','Macular telangiectasia',''),('HP:0030504','Grouped congenital hypertrophy of retinal pigment epithelium',''),('HP:0030505','Nummular pigmentation of the fundus','Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.'),('HP:0030506','Yellow/white lesions of the retina',''),('HP:0030507','Retinal crystals','Crystalline deposits in the retina.'),('HP:0030508','Retinal cavernous hemangioma',''),('HP:0030509','Retinal racemose hemangioma',''),('HP:0030510','Combined hamartoma of the retinal pigment epithelium and retina',''),('HP:0030511','Bradyopsia','Difficulty in seeing moving objects.'),('HP:0030512','Difficulty adjusting to changes in luminance',''),('HP:0030513','Difficulty adjusting from light to dark',''),('HP:0030514','Difficulty adjusting from dark to light',''),('HP:0030515','Moderately reduced visual acuity','Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).'),('HP:0030516','Homonymous hemianopia',''),('HP:0030517','Heteronymous hemianopia',''),('HP:0030518','Congruous homonymous hemianopia',''),('HP:0030519','Congruous heteronymous hemianopia',''),('HP:0030520','Binasal hemianopia',''),('HP:0030521','Bitemporal hemianopia',''),('HP:0030522','Mild constriction of peripheral visual field','A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.'),('HP:0030523','obsolete Peripheral visual field constriction with 40-50 degrees central field preserved',''),('HP:0030524','obsolete Peripheral visual field constriction with 30-39 degrees central field preserved',''),('HP:0030525','Moderate constriction of peripheral visual field','Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.'),('HP:0030526','Severe constriction of peripheral visual field','Peripheral visual field constriction with 10-19 degrees central field preserved.'),('HP:0030527','Very severe constriction of peripheral visual field','Peripheral visual field constriction with <10 degrees central field preserved.'),('HP:0030528','Paracentral scotoma',''),('HP:0030529','Ring scotoma',''),('HP:0030530','Arcuate scotoma',''),('HP:0030531','Altitudinal visual field defect',''),('HP:0030532','Visual acuity test abnormality',''),('HP:0030533','Abnormal unaided visual acuity test',''),('HP:0030534','Abnormal best corrected visual acuity test',''),('HP:0030535','Abnormal pinhole visual acuity test',''),('HP:0030536','Unaided visual acuity 0.1 LogMAR',''),('HP:0030537','Unaided visual acuity 0.2 LogMAR',''),('HP:0030538','Unaided visual acuity 0.3 LogMAR',''),('HP:0030539','Unaided visual acuity 0.4 LogMAR',''),('HP:0030540','Unaided visual acuity 0.5 LogMAR',''),('HP:0030541','Unaided visual acuity 0.6 LogMAR',''),('HP:0030542','Unaided visual acuity 0.7 LogMAR',''),('HP:0030543','Unaided visual acuity 0.8 LogMAR',''),('HP:0030544','Unaided visual acuity 0.9 LogMAR',''),('HP:0030545','Unaided visual acuity 1.0 LogMAR',''),('HP:0030546','Unaided visual acuity 1.1 LogMAR',''),('HP:0030547','Unaided visual acuity 1.2 LogMAR',''),('HP:0030548','Unaided visual acuity 1.3 LogMAR',''),('HP:0030549','Unaided visual acuity 2.0 LogMAR',''),('HP:0030550','Unaided visual acuity 3.0 LogMAR',''),('HP:0030551','Visual acuity light perception with projection',''),('HP:0030552','Visual acuity light perception without projection',''),('HP:0030553','Visual acuity no light perception',''),('HP:0030554','Best corrected visual acuity 0.1 LogMAR',''),('HP:0030555','Best corrected visual acuity 0.2 LogMAR',''),('HP:0030556','Best corrected visual acuity 0.3 LogMAR',''),('HP:0030557','Best corrected visual acuity 0.4 LogMAR',''),('HP:0030558','Best corrected visual acuity 0.5 LogMAR',''),('HP:0030559','Best corrected visual acuity 0.7 LogMAR',''),('HP:0030560','Best corrected visual acuity 0.6 LogMAR',''),('HP:0030561','Best corrected visual acuity 0.8 LogMAR',''),('HP:0030562','Best corrected visual acuity 0.9 LogMAR',''),('HP:0030563','Best corrected visual acuity 1.0 LogMAR',''),('HP:0030564','Best corrected visual acuity 1.1 LogMAR',''),('HP:0030565','Best corrected visual acuity 1.2 LogMAR',''),('HP:0030566','Best corrected visual acuity 1.3 LogMAR',''),('HP:0030567','Best corrected visual acuity 2.0 LogMAR',''),('HP:0030568','Best corrected visual acuity 3.0 LogMAR',''),('HP:0030569','Pinhole visual acuity 0.1 LogMAR',''),('HP:0030570','Pinhole visual acuity 0.2 LogMAR',''),('HP:0030571','Pinhole visual acuity 0.3 LogMAR',''),('HP:0030572','Pinhole visual acuity 0.4 LogMAR',''),('HP:0030573','Pinhole visual acuity 0.5 LogMAR',''),('HP:0030574','Pinhole visual acuity 0.6 LogMAR',''),('HP:0030575','Pinhole visual acuity 0.7 LogMAR',''),('HP:0030576','Pinhole visual acuity 0.8 LogMAR',''),('HP:0030577','Pinhole visual acuity 0.9 LogMAR',''),('HP:0030578','Pinhole visual acuity 1.0 LogMAR',''),('HP:0030579','Pinhole visual acuity 1.1 LogMAR',''),('HP:0030580','Pinhole visual acuity 1.2 LogMAR',''),('HP:0030581','Pinhole visual acuity 1.3 LogMAR',''),('HP:0030582','Pinhole visual acuity 2.0 LogMAR',''),('HP:0030583','Pinhole visual acuity 3.0 LogMAR',''),('HP:0030584','Color vision test abnormality',''),('HP:0030585','Red desaturation',''),('HP:0030586','Abnormal Ishihara plate test',''),('HP:0030587','Abnormal Hardy-Rand-Rittler plate test',''),('HP:0030588','Abnormal visual field test','Abnormal result of a test designed to test an individual`s central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.'),('HP:0030589','Abnormal confrontational visual field test',''),('HP:0030590','Abnormal Amsler grid test',''),('HP:0030591','Abnormal kinetic perimetry test',''),('HP:0030592','Abnormal static perimetry test',''),('HP:0030593','Abnormal manual kinetic perimetry test',''),('HP:0030594','Abnormal automated kinetic perimetry test',''),('HP:0030595','Abnormal static automated perimetry test',''),('HP:0030596','Abnormal Humphrey SITA 30-2 perimetry test',''),('HP:0030597','Abnormal Humphrey SITA 24-2 perimetry test',''),('HP:0030598','Abnormal Humphrey SITA 10-2 perimetry test',''),('HP:0030599','Abnormal Estermann grid perimetry test',''),('HP:0030601','Abnormal posterior segment imaging',''),('HP:0030602','Abnormal fundus autofluorescence imaging','Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.'),('HP:0030603','Abnormal optical coherence tomography',''),('HP:0030604','Abnormal fundus fluorescein angiography','An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.'),('HP:0030605','Abnormal indocyanine green angiography',''),('HP:0030606','Abnormal OCT-measured macular thickness',''),('HP:0030607','Reduced OCT-measured macular thickness',''),('HP:0030608','Increased OCT-measured macular thickness',''),('HP:0030609','Photoreceptor layer loss on macular OCT','Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.'),('HP:0030610','Photoreceptor outer segment loss on macular OCT',''),('HP:0030611','Retinal pigment epithelial loss on macular OCT',''),('HP:0030612','Abnormal retinal morphology on macular OCT',''),('HP:0030613','Abnormal foveal morphology on macular OCT',''),('HP:0030614','Foveal photoreceptor layer loss on macular OCT',''),('HP:0030615','Foveal photoreceptor outer segment loss on macular OCT',''),('HP:0030616','Foveal retinal pigment epithelial loss on macular OCT',''),('HP:0030617','Abnormal OCT-measured foveal thickness',''),('HP:0030618','Increased OCT-measured foveal thickness',''),('HP:0030619','Reduced OCT-measured foveal thickness',''),('HP:0030620','Inner retinal layer loss on macular OCT',''),('HP:0030621','Foveal inner retinal layer loss on macular OCT',''),('HP:0030622','Abnormal foveal pit on macular OCT',''),('HP:0030623','Intraretinal hyporeflective spaces on macular OCT',''),('HP:0030624','Subretinal hyporeflective spaces on macular OCT',''),('HP:0030625','Hyporeflective spaces on macular OCT',''),('HP:0030626','Foveal intraretinal hyporeflective spaces on macular OCT',''),('HP:0030627','Foveal hyporeflective spaces on macular OCT',''),('HP:0030628','Foveal subretinal hyporeflective spaces on macular OCT',''),('HP:0030629','Perifoveal ring of hyperautofluorescence',''),('HP:0030630','Irregular central macular autofluorescence',''),('HP:0030631','Hyperautofluorescent macular lesion','Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.'),('HP:0030632','Hypoautofluorescent macular lesion','Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.'),('HP:0030633','Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence',''),('HP:0030634','Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence',''),('HP:0030635','Retinal dystrophy with early macular involvement',''),('HP:0030636','Occult macular dystrophy','Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.'),('HP:0030637','Congenital stationary cone dysfunction','Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.'),('HP:0030638','Congenital stationary night blindness with normal fundus',''),('HP:0030639','Congenital stationary night blindness with abnormal fundus',''),('HP:0030640','Complete congenital stationary night blindness',''),('HP:0030641','Incomplete congenital stationary night blindness',''),('HP:0030642','Fundus albipunctatus',''),('HP:0030643','Vitelliform-like retinal lesions',''),('HP:0030644','Blind-spot enlargment',''),('HP:0030645','Central','Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.'),('HP:0030646','Peripheral',''),('HP:0030647','Paracentral',''),('HP:0030648','Midperipheral',''),('HP:0030649','Pericentral',''),('HP:0030650','Focal',''),('HP:0030651','Multifocal',''),('HP:0030652','Vitreous haze','Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.'),('HP:0030654','Umbilical cord cyst','Any cystic lesion associated with the umbilical cord.'),('HP:0030655','Umbilical cord knot','An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.'),('HP:0030656','Umbilical vein varix','Focal dilation of the umbilical vein.'),('HP:0030657','Umbilical cord hematoma','Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.'),('HP:0030658','Marginal umbilical cord insertion','Insertion of the umbilical cord within 2 cm from the placental edge.'),('HP:0030659','Velamentous cord insertion','Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.'),('HP:0030660','Furcate cord insertion','Branching of the umbilical cord before its insertion into the placenta.'),('HP:0030661','Vitreous snowballs','Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.'),('HP:0030662','Vitreous inflammatory cells','The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.'),('HP:0030663','Optically empty vitreous','Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.'),('HP:0030664','Beevor`s sign','Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.'),('HP:0030665','Rubral tremor','Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.'),('HP:0030666','Retinal neovascularization','In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.'),('HP:0030667','Peripheral retinal neovascularization','A type of retinal neovascularization that affects the periphery of the retina.'),('HP:0030668','Periorbital dermoid cyst','A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.'),('HP:0030669','Abnormal ocular adnexa morphology','A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.'),('HP:0030670','Hamartoma of the orbital region','A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.'),('HP:0030671','Abnormal common tendinous ring morphology','Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.'),('HP:0030672','Asteroid hyalosis','The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.'),('HP:0030673','Erosive vitreoretinopathy','A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.'),('HP:0030674','Antenatal onset','Onset prior to birth.'),('HP:0030675','Contracture of proximal interphalangeal joints of 2nd-5th fingers','Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.'),('HP:0030676','Satyr ear','Sharp pointed superior portion of the ear, with variable overfolding of the helix.'),('HP:0030677','Mozart ear','A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.'),('HP:0030679','Ash-leaf spot','A hypopigmented spot in the shape of a leaf from the mountain ash tree.'),('HP:0030680','Abnormality of cardiovascular system morphology','Any structural anomaly of the heart and great vessels.'),('HP:0030681','Abnormal morphology of myocardial trabeculae','Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0030682','Left ventricular noncompaction','Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.'),('HP:0030683','Vaginitis','Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.'),('HP:0030684','Abnormal adiponectin level','A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.'),('HP:0030685','Decreased adiponectin level','A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.'),('HP:0030686','Increased adiponectin level','An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.'),('HP:0030687','Abnormal glucagon level','A deviation from the normal concentration of glucagon in the blood circulation.'),('HP:0030688','Increased glucagon level','An elevated concentration of glucagon in the blood circulation.'),('HP:0030689','Decreased glucagon level','A reduced concentration of glucagon in the blood circulation.'),('HP:0030690','Gingival cleft','A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.'),('HP:0030691','Divergence nystagmus','A condition in which both eyes beat outward simultaneously.'),('HP:0030692','Brain neoplasm','A benign or malignant neoplasm that arises from or metastasizes to the brain.'),('HP:0030693','Supratentorial neoplasm','A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.'),('HP:0030694','Pineal parenchymal cell neoplasm',''),('HP:0030706','Ranula','A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton`s duct of the submandibular gland or infrequently from the minor salivary glands at this location.'),('HP:0030707','Unilateral lung agenesis','Lack of development of one lung.'),('HP:0030708','Myeloschisis','The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.'),('HP:0030709','Myelocystocele','Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.'),('HP:0030710','Lipomeningocele','A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.'),('HP:0030711','Hydrocolpos','Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.'),('HP:0030712','Uterine synechiae','Adhesions or scar tissue that form inside the cavity of the uterus.'),('HP:0030713','Vein of Galen aneurysmal malformation','Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.'),('HP:0030714','Subchorionic thrombohematoma','A large maternal clot that separates the chorionic plate from the villous chorion.'),('HP:0030715','Bronchial atresia','A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.'),('HP:0030716','Acrania','Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.'),('HP:0030717','Meconium peritonitis','Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.'),('HP:0030718','Right atrial enlargement','Increase in size of the right atrium.'),('HP:0030719','Unguarded tricuspid valve','A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.'),('HP:0030720','Subchorionic septal cyst','Cyst on the surface of the placenta consisting of amnion and chorion.'),('HP:0030721','Tetraphocomelia','Phocomelia involving all four extremities.'),('HP:0030722','Ectopic liver','Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.'),('HP:0030723','Congenital megalourethra','Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.'),('HP:0030724','Central nervous system cyst','A fluid-filled sac (cyst) located within the central nervous system.'),('HP:0030725','Neurenteric cyst','The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.'),('HP:0030726','Spinal neurenteric cyst','A neurenteric cyst located in the spine.'),('HP:0030727','Intracranial neurenteric cyst','A neurenteric cyst located within the skull.'),('HP:0030728','Meromelia','Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.'),('HP:0030729','Frontoethmoidal meningocele','A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.'),('HP:0030730','Parietal meningocele','A herniation of meninges through a congenital bone defect in the skull in the parietal region.'),('HP:0030731','Carcinoma','A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).'),('HP:0030732','Dysplastic tricuspid valve','A congenital malformation of the tricuspid valve characterized by leaflet deformation.'),('HP:0030733','Vesicoallantoic abdominal wall defect','An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.'),('HP:0030735','Ureterovesical junction obstruction','Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.'),('HP:0030736','Sacrococcygeal teratoma','A teratoma arising in the sacro-coccygeal region.'),('HP:0030737','Altman type I sacrococcygeal teratoma','A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.'),('HP:0030738','Altman type II sacrococcygeal teratoma','A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.'),('HP:0030739','Altman type III sacrococcygeal teratoma','A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.'),('HP:0030740','Anomalous muscle bundle of the right ventricle','An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.'),('HP:0030741','Mediastinal teratoma','A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).'),('HP:0030742','Glial remnants posterior to lens','This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.'),('HP:0030743','Glial remnants anterior to the optic disc','Persistance of a posterior remnant of the hyaloid artery located at the optic disc.'),('HP:0030744','Hyaloid vascular remnant and retrolental mass','A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.'),('HP:0030745','Dilatation of the ductus arteriosus','A saccular or fusiform dilation and elongation of the ductus arteriosus.'),('HP:0030746','Intraventricular hemorrhage','Bleeding into the ventricles of the brain.'),('HP:0030747','Preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a premature infant.'),('HP:0030748','Grade I preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.'),('HP:0030749','Grade II preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.'),('HP:0030750','Grade III preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.'),('HP:0030751','Grade IV preterm intraventricular hemorrhage','Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.'),('HP:0030752','Dacryocystocele','A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.'),('HP:0030753','Intrauterine fetal demise of one twin after midgestation','Loss of one twin occurring after midgestation (17 weeks gestation).'),('HP:0030754','Allantoic cyst','A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton`s jelly.'),('HP:0030755','Craniofacial teratoma','A teratoma located in the craniofacial region.'),('HP:0030756','Erythrodontia','Reddish, brown opalescent discoloration of teeth in normal light.'),('HP:0030757','Tooth abscess','A pocket of pus located within a region of a tooth.'),('HP:0030758','Periapical tooth abscess','A tooth abscess that occurs at the tip of the root (apex) of a tooth.'),('HP:0030759','Adipocyte hypertrophy','An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.'),('HP:0030760','Renal fibrosis','Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.'),('HP:0030761','obsolete Renal glomerular fibrosis',''),('HP:0030762','Mesangiolysis','Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis.'),('HP:0030763','Amniotic Sheet','A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.'),('HP:0030764','Ochronosis','Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.'),('HP:0030765','Sleep terror','Episodes of intense fear, screaming and flailing although affected individuals are still asleep.'),('HP:0030766','Ear pain','Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).'),('HP:0030767','Epignathus','Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.'),('HP:0030769','Exencephaly','A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.'),('HP:0030770','Craniorachischisis','A neural tube defect in which both the brain and spinal cord remain open to varying degrees.'),('HP:0030771','Mallet finger','Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.'),('HP:0030772','Proximal femoral focal deficiency','Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.'),('HP:0030773','Internuclear ophthalmoplegia','An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.'),('HP:0030774','Mitochondrial swelling','The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.'),('HP:0030775','Modic type vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.'),('HP:0030776','Modic type I vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.'),('HP:0030777','Modic type II vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.'),('HP:0030778','Modic type III vertebral endplate changes','An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.'),('HP:0030779','Ethmocephaly','Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.'),('HP:0030780','Abnormality of the protein C anticoagulant pathway','An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.'),('HP:0030781','Increased circulating free fatty acid level','A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.'),('HP:0030782','Abnormal serum interleukin level','An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.'),('HP:0030783','Increased serum interleukin-6','An increased concentration of interleukin-6 in the circulation.'),('HP:0030784','Anomia','An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.'),('HP:0030785','Mediastinal cystic lymphangioma','A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.'),('HP:0030786','Photopsia','Perceived flashes of light.'),('HP:0030787','Cerumen abnormality','Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.'),('HP:0030788','Impacted cerumen','Blockage of the external auditory canal by a buildup of earwax.'),('HP:0030789','Excessive cerumen','An increased quantity of earwax.'),('HP:0030790','Abnormal cerumen color','An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.'),('HP:0030791','Abnormal jaw morphology','A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.'),('HP:0030792','Jaw neoplasm','A tumor originating in the jaw (mandible or maxilla).'),('HP:0030793','Jaw swelling','Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).'),('HP:0030794','Abnormal C-peptide level','An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.'),('HP:0030795','Reduced C-peptide level','A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.'),('HP:0030796','Increased C-peptide level','An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.'),('HP:0030797','Reduced volume of central subdivision of bed nucleus of stria terminalis','A diminished volume of the central part of the bed nucleus of the stria terminalis.'),('HP:0030798','Abnormality of the bed nucleus of stria terminalis','The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.'),('HP:0030799','Scaphocephaly','Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.'),('HP:0030800','Abnormal visual accommodation','An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.'),('HP:0030801','Reduced visual accommodation','A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.'),('HP:0030802','Lower eyelid retraction','Inferior malposition of the lower eyelid margin without eyelid eversion.'),('HP:0030803','Platonychia','Abnormal flat nail.'),('HP:0030804','Trachyonychia','Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.'),('HP:0030805','Absent lunula','Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.'),('HP:0030806','Fast-growing nails','Nails whose growth is quicker than normal.'),('HP:0030807','Abnormal nail growth','Nail whose growth pattern or speed deviates from normal.'),('HP:0030808','Ragged cuticle','The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.'),('HP:0030809','Abnormal tongue morphology','Any structural anomaly of the tongue.'),('HP:0030810','Abnormal tongue physiology','Any functional anomaly of the tongue.'),('HP:0030811','Tongue pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.'),('HP:0030812','Enlarged tonsils','Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.'),('HP:0030813','Absent tonsils','Lack of observable tonsillar tissue.'),('HP:0030814','Orange discolored tonsils','A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.'),('HP:0030815','Lipoma of the tongue','A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.'),('HP:0030816','Gingival recession','The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.'),('HP:0030817','Beaked nails','Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.'),('HP:0030818','Central nail canal','The presense of a depressed line (\"canal\") in the center of the nail.'),('HP:0030819','Ski jump nail','Nails that slope upward at the free edge.'),('HP:0030820','Hooded eyelid','Eyelid partly covered by skin when eyes are open.'),('HP:0030821','Hooded lower eyelid','Lower eyelid partly covered by skin when eyes are open.'),('HP:0030822','Hooded upper eyelid','Upper eyelid partly covered by skin when eyes are open.'),('HP:0030823','Scleral thickening','Increased dimension of the sclera in the anterior-posterior axis.'),('HP:0030824','Mizuo phenomenon','Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].'),('HP:0030825','Absent foveal reflex','Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.'),('HP:0030826','Eyelid fasciculation','Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.'),('HP:0030828','Wheezing','A high-pitched whistling sound associated with labored breathing.'),('HP:0030829','Abnormal breath sound','An anomalous (adventitious) sound produced by the breathing process.'),('HP:0030830','Crackles','Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.'),('HP:0030831','Rhonchi','Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.'),('HP:0030832','Vitreous strands','Fiber- or rope-like opacities located within the vitreous humor.'),('HP:0030833','Neck pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.'),('HP:0030834','Shoulder pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.'),('HP:0030835','Elbow pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.'),('HP:0030836','Wrist pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.'),('HP:0030837','Finger pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.'),('HP:0030838','Hip pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.'),('HP:0030839','Knee pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.'),('HP:0030840','Ankle pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.'),('HP:0030841','Toe pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.'),('HP:0030842','Choking episodes','Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.'),('HP:0030843','Cardiac amyloidosis','Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.'),('HP:0030844','Undetectable pattern electroretinogram','Absent response to a pattern electroretinogram (PERG).'),('HP:0030845','Heliotrope rash of eyelid','Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.'),('HP:0030846','Abnormality of venous physiology','An anomaly of venous function.'),('HP:0030847','Abnormal jugular venous pressure','An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.'),('HP:0030848','Elevated jugular venous pressure','Increased jugular venous pressure.'),('HP:0030849','Hepatojugular reflux','The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.'),('HP:0030850','Abnormal pulse pressure','An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.'),('HP:0030851','Low pulse pressure','Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).'),('HP:0030852','High pulse pressure','Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).'),('HP:0030853','Heterotaxy','An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.'),('HP:0030854','Scleral staphyloma','A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.'),('HP:0030855','Anterior staphyloma','A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.'),('HP:0030856','Posterior staphyloma','A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.'),('HP:0030857','Eye movement-induced pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.'),('HP:0030858','Addictive behavior','A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains.'),('HP:0030859','Topoisomerase I antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.'),('HP:0030860','Abnormal CSF amyloid level','Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).'),('HP:0030861','Decreased CSF amyloid level','Reduced concentration of amyloid in the cerebrospinal fluid (CSF).'),('HP:0030862','Elevated CSF amyloid level','Increased concentration of amyloid in the cerebrospinal fluid (CSF).'),('HP:0030863','Nasal flaring','Widening of the nostrils upon inhalation as a manifestation of respiratory distress.'),('HP:0030864','Intercostal retractions','A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.'),('HP:0030865','Large elbow','Abnormal increased size of the elbow joint.'),('HP:0030866','Large knee','Abnormally increased size of the knee joint.'),('HP:0030867','Vertical orbital dystopia','The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.'),('HP:0030868','Monorchism','Having only one testis in the scrotum.'),('HP:0030869','Anorchism','An abnormality of XY sexual development characterized by the absence of both testes at birth.'),('HP:0030870','Abnormality of spinal facet joint','An anomaly of the small joints located between and behind adjacent vertebrae.'),('HP:0030871','Facet joint arthrosis','Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.'),('HP:0030872','Abnormal cardiac ventricular function','An abnormality of the cardiac ventricular function.'),('HP:0030873','Anticentromere antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.'),('HP:0030874','Oxygen desaturation on exertion','Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.'),('HP:0030875','Abnormality of pulmonary circulation','A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.'),('HP:0030876','Increased pulmonary capillary wedge pressure','Pulmonary capillary wedge pressure (PCWP) above 15mmHg.'),('HP:0030877','Reduced FEV1/FVC ratio','Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).'),('HP:0030878','Abnormality on pulmonary function testing','Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.'),('HP:0030879','Interlobular septal thickening on pulmonary HRCT','Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.'),('HP:0030880','Raynaud phenomenon',''),('HP:0030881','Shoulder impingement','Trapping and compression of the rotator cuff tendons during shoulder movements.'),('HP:0030882','Coronary artery aneurysm','Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.'),('HP:0030883','Femoroacetabular impingement','Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.'),('HP:0030884','Gastrojejunal tube feeding in infancy','Feeding problem necessitating gastrojejunal tube feeding.'),('HP:0030885','Recurrent parasitic infections','Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.'),('HP:0030886','Abnormal lymphocyte apoptosis','A anomaly in the rate of apoptosis in lymphocytes.'),('HP:0030887','Increased lymphocyte apoptosis','A elevation in the rate of apoptosis in lymphocytes.'),('HP:0030888','C3 nephritic factor positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).'),('HP:0030889','Congenital shortened small intestine','Substantially shortened length of the small intestine as a result of a developmental defect.'),('HP:0030890','Hyperintensity of cerebral white matter on MRI','A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.'),('HP:0030891','Periventricular white matter hyperdensities','Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.'),('HP:0030892','Deep cerebral white matter hyperdensities','Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.'),('HP:0030893','Abnormal response to short acting pulmonary vasodilator','Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.'),('HP:0030894','Insufficient response to short acting pulmonary vasodilator','No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.'),('HP:0030895','Abnormal gastrointestinal motility','An anomaly of the muscular contractions that propel food though the gastrointestinal tract.'),('HP:0030896','Abnormal gastrointestinal transit time','A deviation from the normal amount of time required for food to pass through the intestines.'),('HP:0030897','Decreased intestinal transit time','A reduction in the length of time required for food to pass through the intestines.'),('HP:0030898','Pruritis on abdomen','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.'),('HP:0030899','Pruritis on hand','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.'),('HP:0030900','Pruritus on foot','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.'),('HP:0030901','Pruritis on breast','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.'),('HP:0030902','Palmomental reflex','A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.'),('HP:0030903','Grasp reflex','A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient`s hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner`s fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner`s hand with variable strength and continues to grasp as the examiner`s hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].'),('HP:0030904','Glabellar reflex','A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson`s sign.'),('HP:0030905','Snout reflex','A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.'),('HP:0030906','Suck reflex','A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner`s finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.'),('HP:0030907','Thunderclap headache','Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.'),('HP:0030908','Liver kidney microsome type 1 antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).'),('HP:0030909','Anti-liver cytosolic antigen type 1 antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.'),('HP:0030911','Bifid clitoris','Two clitorides located side by side.'),('HP:0030912','Duplicated clitoris','Supernumerary clitoris.'),('HP:0030913','Exaggerated rugosity of the labia majora','Marked rugae formation of the skin of the labia majora.'),('HP:0030914','Abnormal peristalsis','An anomaly of the wave-like muscle contractions of the digestive tract.'),('HP:0030915','Cerebellar edema','Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.'),('HP:0030917','Low APGAR score',''),('HP:0030918','Low 1-minute APGAR score',''),('HP:0030919','Low 5-minute APGAR score',''),('HP:0030920','5-minute APGAR score of 0',''),('HP:0030921','5-minute APGAR score of 1',''),('HP:0030922','5-minute APGAR score of 2',''),('HP:0030923','5-minute APGAR score of 3',''),('HP:0030924','5-minute APGAR score of 4',''),('HP:0030925','5-minute APGAR score of 5',''),('HP:0030926','5-minute APGAR score of 6',''),('HP:0030927','1-minute APGAR score of 0',''),('HP:0030928','1-minute APGAR score of 1',''),('HP:0030929','1-minute APGAR score of 2',''),('HP:0030930','1-minute APGAR score of 3',''),('HP:0030931','1-minute APGAR score of 4',''),('HP:0030932','1-minute APGAR score of 5',''),('HP:0030933','1-minute APGAR score of 6',''),('HP:0030934','Oral erythroplakia','A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.'),('HP:0030935','Abnormality of intestinal smooth muscle morphology','A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.'),('HP:0030936','Abnormal layering of muscularis propria','Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.'),('HP:0030937','Fibrotic muscularis propria','The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.'),('HP:0030938','Enteric intraneuronal nuclear inclusion bodies','Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.'),('HP:0030939','Palpebral thickening','An increased thickness of the eyelid not related to acute inflammation.'),('HP:0030943','Vulvodynia','Pain in the vulvar area'),('HP:0030946','Conjunctival papillae','Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.'),('HP:0030947','Conjunctival follicles','Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.'),('HP:0030948','Elevated gamma-glutamyltransferase level','Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.'),('HP:0030949','Glomerular deposits','An abnormal accumulation of protein in the glomerulus.'),('HP:0030950','Pulmonary venous hypertension','An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.'),('HP:0030951','Skeletal muscle fibrosis','Excessive formation of fibrous bands of scar tissue in between muscle fibers.'),('HP:0030952','Birdshot choroidal lesions','Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot.'),('HP:0030953','Conjunctival hyperemia','Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.'),('HP:0030955','Alcoholism','An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.'),('HP:0030956','Abnormality of cardiovascular system electrophysiology','An anomaly of the electrical conduction physiology of the heart.'),('HP:0030957','Ventricular septal aneurysm','A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.'),('HP:0030958','Membranous ventricular septal aneurysm','Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).'),('HP:0030959','Muscular ventricular septal aneurysm','Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).'),('HP:0030960','obsolete Abnormal pupillary morphology',''),('HP:0030961','Microspherophakia','Lens of the eye is smaller than normal and spherically shaped.'),('HP:0030962','Abnormal morphology of the great vessels','A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.'),('HP:0030963','obsolete Abnormal aortic morphology',''),('HP:0030964','Abnormal aortic physiology',''),('HP:0030965','Aortic stiffness','The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.'),('HP:0030966','Abnormal pulmonary artery morphology','An abnormality of the structure of the pulmonary artery.'),('HP:0030967','Abnormal pulmonary artery physiology','An abnormality of the function of the pulmonary artery.'),('HP:0030968','Abnormal pulmonary vein morphology','An abnormality of the structure of the pulmonary veins.'),('HP:0030969','Abnormal pulmonary vein physiology','An abnormality of the function of the pulmonary veins.'),('HP:0030970','Abnormal vena cava physiology','An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.'),('HP:0030971','obsolete Abnormal vena cava morphology',''),('HP:0030972','Abnormal systemic blood pressure','A chronic deviation from normal pressure in the systemic arterial system.'),('HP:0030973','Postexertional malaise','A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise.'),('HP:0030974','Cryptozoospermia','A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out).'),('HP:0030975','Pontine tegmental cap','An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.'),('HP:0030976','Abnormal factor VIII activity','A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.'),('HP:0030977','Increased factor VIII activity','Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.'),('HP:0030978','Decreased CSF/serum albumin ratio','A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.'),('HP:0030979','Dilatation of large choroidal vessels','Enlargement of the large blood vessels in the choroid.'),('HP:0030980','Reduced brain glutamine level by MRS','An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0030981','Abnormal CSF/serum albumin ratio','A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.'),('HP:0030983','Ovarian thecoma','A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.'),('HP:0030984','Abnormal serum bile acid concentration','A deviation from the normal concentration of serum bile acid concentration.'),('HP:0030985','Decreased serum bile concentration','A reduction in the concentration of bile acid in the blood.'),('HP:0030986','Biliary epithelial hyperplasia','Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.'),('HP:0030987','Suppurative cholangitis','Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).'),('HP:0030988','Granulomatous cholangitis','Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.'),('HP:0030989','Lymphoid cholangitis','Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.'),('HP:0030990','Pleomorphic cholangitis','Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.'),('HP:0030991','Sclerosing cholangitis','Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.'),('HP:0030992','Abnormal pancreatic duct morphology','Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.'),('HP:0030993','Duplication of pancreatic duct','A congenital anomaly characterized by the presence of two separate pancreatic ducts.'),('HP:0030994','Pancreas divisum','A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.'),('HP:0030995','Peritoneal effusion','An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).'),('HP:0030996','Megaduodenum','Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.'),('HP:0030997','Atretic vas deferens','Abnormal closure or blockage of the vas deferens.'),('HP:0030998','Cerebrospinal fluid rhinorrhoea','Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.'),('HP:0030999','Abnormal vestibular saccule morphology','Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).'),('HP:0031000','Vestibular saccular degeneration','Deterioration or loss of the tissues of the saccule of the vestibule.'),('HP:0031001','Minifascicle formation','A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.'),('HP:0031002','Neuritis','Inflammation of a nerve.'),('HP:0031003','Polyneuritis','Simulataneous inflammation of multiple nerves.'),('HP:0031004','Hemiareflexia','Areflexia that is limited to one side of the body.'),('HP:0031005','Hyperalgesia','Abnormally increased sensitivity to pain.'),('HP:0031006','Acroparesthesia','A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.'),('HP:0031007','Orofacial action-specific dystonia induced by speech',''),('HP:0031008','Lingual dystonia','Involuntary protrusions, movements, spams and contortions of the tongue.'),('HP:0031009','Ainhum','Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.'),('HP:0031010','Hyperphalangy of the 3rd finger','An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.'),('HP:0031011','Fatty streak','Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.'),('HP:0031012','Thin-cap fibroatheroma','Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.'),('HP:0031013','Ankylosis','A reduction of joint mobility resulting from changes involving the articular surfaces.'),('HP:0031014','Arteria lusoria','Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.'),('HP:0031015','Intrahepatic portal vein sclerosis','Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.'),('HP:0031016','Alternating radiolucent and radiodense metaphyseal lines','Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.'),('HP:0031017','Swiss cheese atrial septal defect','Multiple defects in the atrial septum.'),('HP:0031018','Eccrine syringofibroadenoma','Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).'),('HP:0031019','Pyknotic bone marrow neutrophils','Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.'),('HP:0031020','Bone marrow hypercellularity','A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.'),('HP:0031021','Squamous Papilloma','A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].'),('HP:0031022','Oropharyngeal squamous papilloma','A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].'),('HP:0031023','Multiple mucosal neuromas','Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.'),('HP:0031024','Cylindroma','A benign skin adnexal tumor of eccrine differentiation.'),('HP:0031025','Gastric leiomyosarcoma','A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.'),('HP:0031026','Snail-like ilia','The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.'),('HP:0031027','Internal notch of the femoral head','A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.'),('HP:0031028','Lactescent serum','Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.'),('HP:0031029','Elevated carcinoembryonic antigen level','An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.'),('HP:0031030','Elevated carcinoma antigen 125 level','An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.'),('HP:0031031','Abnormal retinol-binding protein level','A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.'),('HP:0031032','Decreased retinol-binding protein level','A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.'),('HP:0031033','Impaired urinary acidification','The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.'),('HP:0031034','Abnormal insulin like growth factor binding protein acid labile subunit level','A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.'),('HP:0031035','Chronic infection','Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.'),('HP:0031036','Reduced growth-hormone binding protein level','A decreased blood concentration of growth hormone binding protein.'),('HP:0031037','Reduced insulin-like factor 3 level','Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.'),('HP:0031038','Spermatogenesis maturation arrest','Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.'),('HP:0031039','Early spermatogenesis maturation arrest','A type of maturation arrest in which only spermatogonia or spermatocytes are found.'),('HP:0031040','Late spermatogenesis maturation arrest','A type of maturation arrest in which spermatids are detected without spermatozoa.'),('HP:0031041','Obstruction of the superior vena cava','Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.'),('HP:0031042','Strawberry tongue','Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.'),('HP:0031043','Type A4 brachydactyly','A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.'),('HP:0031044','Type A5 brachydactyly','A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.'),('HP:0031045','Acral blistering','Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet)'),('HP:0031046','Absent soft palate','A developmental defect characterized by lack of a soft palate.'),('HP:0031047','Paraproteinemia','An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031048','Light-chain paraproteinemia','An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031049','Heavy-chain paraproteinemia','An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031050','Whole-immunoglobulin paraproteinemia','An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.'),('HP:0031051','Tarsal sclerosis','An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0031052','Elevated vascular endothelial growth factor level','Increased blood concentration of vascular endothelial growth factor (VEGF).'),('HP:0031053','Coarctation in the transverse aortic arch','Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.'),('HP:0031054','Long segment coarctation of the aorta','Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.'),('HP:0031055','Abnormal branching pattern of left aortic arch','A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).'),('HP:0031056','Fusiform cerebral aneurysm','A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.'),('HP:0031057','Skin fissure','A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.'),('HP:0031058','Impairment of activities of daily living','Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.'),('HP:0031059','Impaired ability to bathe oneself','This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.'),('HP:0031060','Impaired ability to dress oneself','This applies to an individual who needs help with dressing or needs to be completely dressed.'),('HP:0031061','Impaired toileting ability','This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.'),('HP:0031062','Impaired transferring ability','Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.'),('HP:0031063','Impaired feeding ability','Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.'),('HP:0031064','Impaired continence','Partial or total incontinence of bowel or bladder.'),('HP:0031065','Abnormal ovarian morphology',''),('HP:0031066','Abnormal ovarian physiology','Any anomaly of ovarian function.'),('HP:0031067','Empty ovarian follicle','A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.'),('HP:0031068','Increased femoral torsion','Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range.'),('HP:0031069','Abnormal femoral torsion','Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.'),('HP:0031070','Decreased femoral torsion','Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range.'),('HP:0031071','Abnormal endocrine morphology','Any anomaly of the structure of an organ ofthe endocrine system.'),('HP:0031072','Abnormal endocrine physiology','Any anomaly of the function of the endocrine system.'),('HP:0031073','Abnormal response to endocrine stimulation test','An anomalous response to a test that is designed to probe the function of the endocrine system.'),('HP:0031074','Abnormal response to ACTH stimulation test','An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.'),('HP:0031075','Abnormal response to insulin tolerance test','An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.'),('HP:0031076','Impaired cortisol response to insulin stimulation test','Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).'),('HP:0031077','Abnormal response to corticotropin releasing hormone stimulation test','An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.'),('HP:0031078','Impaired cortisol response to corticotropin releasing hormone stimulation test','Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.'),('HP:0031079','Impaired growth-hormone response to insulin stimulation test','Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).'),('HP:0031080','Abnormal response to glucagon stimulation test','An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).'),('HP:0031081','Impaired cortisol response to glucagon stimulation test','Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.'),('HP:0031082','Impaired growth-hormone response to glucagon stimulation test','Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.'),('HP:0031083','Abnormal response to human chorionic gonadotrophin stimulation test','An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.'),('HP:0031084','Excessive insulin response to glucagon test','An abnormally high increase in insulin levels following a glucagon stimulation test.'),('HP:0031085','Decreased prealbumin level','A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.'),('HP:0031086','Ectopic ovary','Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.'),('HP:0031087','Absent pubertal growth spurt','The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.'),('HP:0031088','Vaginal dryness','Persistent vaginal dryness.'),('HP:0031089','Palatal edema','Swelling related to fluid accumulation within the palate.'),('HP:0031090','Finger dactylitis','Fingers appear swollen and plump owing to inflammation of the complete finger.'),('HP:0031091','Toe dactylitis','Toes appear swollen and plump owing to inflammation of the complete toe.'),('HP:0031092','Spindle-shaped finger','Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).'),('HP:0031093','Abnormal breast morphology','Any anomaly of the structure of the breast.'),('HP:0031094','Abnormal breast physiology','Any anomaly of the function of the breast.'),('HP:0031095','Abnormal humerus morphology','Any anomaly of the structure of the humerus.'),('HP:0031096','Delayed vertebral ossification','A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.'),('HP:0031097','Abnormal thyroid-stimulating hormone level','Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.'),('HP:0031098','Decreased thyroid-stimulating hormone level','Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.'),('HP:0031099','Abnormal circulating inhibin level','Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.'),('HP:0031100','Decreased inhibin B level','A reduced concentration of inhibin B in the blood.'),('HP:0031101','Abnormal antimullerian hormone level','Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.'),('HP:0031102','Increased antimullerian hormone level','An elevation above the normal range of the antimullerian hormone in the circulation.'),('HP:0031103','Decreased antimullerian hormone level','A reduction below the normal range of the antimullerian hormone in the circulation.'),('HP:0031104','Insulin receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.'),('HP:0031105','Abnormal uterus morphology','Any anomaly of the structure of the uterus'),('HP:0031106','T-shaped uterus','An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.'),('HP:0031107','Decreased fibular diameter','Reduced width of the cross sectional diameter of the fibula.'),('HP:0031108','Triceps weakness','A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.'),('HP:0031109','Agalactia','Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.'),('HP:0031110','Twin-to-twin transfusion','As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor`s development and growth. The blood volume of the recipient twin is increased, which can strain the fetus`s heart and eventually lead to heart failure.'),('HP:0031111','Cutaneous hamartoma','A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.'),('HP:0031117','Purely bicuspid aortic valve','A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.'),('HP:0031118','Single raphe bicuspid aortic valve','A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.'),('HP:0031119','Bicuspid aortic valve with right-left cusp fusion','A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.'),('HP:0031120','Bicuspid aortic valve with right-noncoronary cusp fusion','A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.'),('HP:0031121','Bicuspid aortic valve with left-noncoronary cusp fusion','A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.'),('HP:0031122','Two-raphe bicuspid aortic valve','A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.'),('HP:0031123','Recurrent gastroenteritis','Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.'),('HP:0031124','Decreased platelet thromboxane A2 receptor','Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).'),('HP:0031125','Decreased platelet alpha-2A-adrenergic receptor','Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.'),('HP:0031126','Impaired clot retraction','Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.'),('HP:0031127','Impaired convulxin-induced platelet aggregation','Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.'),('HP:0031128','Impaired collagen-related peptide-induced platelet aggregation','Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.'),('HP:0031129','Impaired phorbol myristate acetate-induced platelet aggregation','Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.'),('HP:0031130','Impaired calcium ionophore-induced platelet aggregation','Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.'),('HP:0031131','Abnormal platelet phosphatidylserine exposure','An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.'),('HP:0031132','Impaired annexin V binding to platelet phosphatidylserine','Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.'),('HP:0031133','Increased annexin V binding to platelet phosphatidylserine','Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.'),('HP:0031134','Cor triatrium sinister','A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.'),('HP:0031135','Triggered by physical trauma','Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).'),('HP:0031136','Decreased acrosin in sperm head','A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.'),('HP:0031137','Storage in hepatocytes','Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.'),('HP:0031138','Abnormal B-type natriuretic peptide level','A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).'),('HP:0031139','Frog-leg posture','A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.'),('HP:0031140','Abnormal liver sonography','An abnormal appearance of the liver or any of its components on sonography (ultrasound).'),('HP:0031141','Increased hepatic echogenicity','Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.'),('HP:0031142','Abnormal hepatic echogenicity','Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).'),('HP:0031143','Decreased hepatic echogenicity','Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.'),('HP:0031144','Coarsened hepatic echotexture','The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.'),('HP:0031145','Starry sky appearance on hepatic sonography','An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).'),('HP:0031146','Impaired oral bolus formation','An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.'),('HP:0031150','Vitreomacular adhesion','Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.'),('HP:0031151','Vitreomacular traction','Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.'),('HP:0031152','Full-thickness macular hole','Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.'),('HP:0031153','Membranous vitreous appearance','Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.'),('HP:0031154','Beaded vitreous appearance','Vitreous humor of the eye displaying beaded bundles of irregular diameters.'),('HP:0031155','Increased Arden ratio of electrooculogram','An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.'),('HP:0031156','Decreased platelet glycoprotein Ib','Decreased platelet cell membrane concentration of glycoprotein Ib.'),('HP:0031157','Carotid cavernous fistula','An abnormal connection between a carotid artery and the cavernous sinus.'),('HP:0031158','Widened atrophic scar','An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.'),('HP:0031159','Thinning of Descemet membrane','A reduction in the thickness of Descemet`s membrane.'),('HP:0031160','Myelokathexis','Impaired egress of mature neutrophils from bone marrow causing neutropenia.'),('HP:0031161','Reduced brain glutamate level by MRS','An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0031162','Impaired oropharyngeal swallow response','Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.'),('HP:0031163','Low femoral bone density','Reduced bone mineral density of the femur.'),('HP:0031164','Growth arrest lines','Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.'),('HP:0031165','Multifocal seizures','Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).'),('HP:0031166','Eyelid myokymia','Involuntary, fine, continuous, undulating contractions of the eyelid.'),('HP:0031167','Triggered by ingestion of potassium-rich food','Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.'),('HP:0031169','Postterm pregnancy','A pregnancy that extends to 42 weeks of gestation or beyond.'),('HP:0031170','Female fetal virilization','Fetal masculinization of female external genitalia.'),('HP:0031171','Femoral spur','A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.'),('HP:0031172','Sectoral retinitis pigmentosa','A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.'),('HP:0031173','Tibial spur','A bony projection (spur, osteophyte) originating from the tibia.'),('HP:0031174','Double-layered patella','An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.'),('HP:0031175','Absent cervical vertebra','A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.'),('HP:0031176','Absent thoracic vertebra','A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.'),('HP:0031177','Finger flexor weakness','Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.'),('HP:0031178','Fixed head retroflexion','Head is bent in the posterior direction in a permanent fashion.'),('HP:0031179','Nuchal rigidity','Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.'),('HP:0031180','Erythema migrans','An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).'),('HP:0031181','Necrolytic migratory erythema','Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.'),('HP:0031185','Increased NT-proBNP level','An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).'),('HP:0031186','Abnormal circulating deoxycorticosterone level','An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.'),('HP:0031187','Abnormality of circulating pregnenolone level','An abnormality of the concentration of pregnenolone in the blood.'),('HP:0031188','Genital edema','A buildup of fluid that causes swelling in the soft tissues of the genital area.'),('HP:0031189','Wrist drop','A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.'),('HP:0031190','Superficial dermal perivascular inflammatory infiltrate','Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.'),('HP:0031191','Deep dermal perivascular inflammatory infiltrate','Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.'),('HP:0031192','Abnormal morphology of left ventricular trabeculae','Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0031193','Abnormal morphology of right ventricular trabeculae','Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0031194','Increased density of left ventricular trabeculae','An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).'),('HP:0031195','Apical hypertrabeculation of the left ventricle','An increased number and density of the trabeculae in the apex (tip) of the left ventricle.'),('HP:0031196','Thin myocardium compact layer','Reduced thickness of the outer, dense layer of the myocardium.'),('HP:0031197','Cellular urinary casts','A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).'),('HP:0031198','Renal tubular epithelial cell casts','A type of cellular urinary cast composed of renal tubular epithelial cells.'),('HP:0031199','Acellular urinary casts','A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.'),('HP:0031200','Hyaline casts','A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.'),('HP:0031201','Granular casts','A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.'),('HP:0031202','Waxy casts','A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.'),('HP:0031203','Fatty casts','A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.'),('HP:0031204','Bacterial cell casts','A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.'),('HP:0031205','Reduced lysosomal acid lipase activity','Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.'),('HP:0031206','Striatal T2 hyperintensity','Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.'),('HP:0031207','Hepatic hemangioma','A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.'),('HP:0031208','Increased pituitary glycoprotein hormone alpha subunit level','An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.'),('HP:0031209','Decreased lipoprotein lipase level','Reduction in the level of lipoprotein lipase in the blood.'),('HP:0031210','Abnormal circulating hyaluronic acid concentration','A deviation from the normal concentration of hyaluronic acid in the blood.'),('HP:0031211','Elevated cholesterol ester level','An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.'),('HP:0031212','Abnormal circulating progesterone level',''),('HP:0031213','Elevated circulating 17-hydroxyprogesterone','An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.'),('HP:0031214','Decreased circulating dehydroepiandrosterone level',''),('HP:0031215','Decreased circulating dehydroepiandrosterone-sulfate level','A reduced concentration of dehydroepiandrosterone-sulfate in the blood.'),('HP:0031216','Increased circulating progesterone','An elevated concentration of progesterone in the blood.'),('HP:0031217','Hot flashes','Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.'),('HP:0031218','Inappropriate antidiuretic hormone secretion','A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.'),('HP:0031219','Reduced radioactive iodine uptake','A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.'),('HP:0031220','Increased radioactive iodine uptake','An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.'),('HP:0031221','Abnormal radioactive iodine uptake test result','Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.'),('HP:0031222','Increased circulating thyroxine-binding globulin level','An elevated concentration of thyroxine-binding globulin (TBG) in the blood.'),('HP:0031223','Focal pancreatic islet hyperplasia','Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.'),('HP:0031224','Diffuse pancreatic islet hyperplasia','Hyperplasia of the islets of Langerhans with a generalized distribution.'),('HP:0031225','Intrapulmonary shunt','Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.'),('HP:0031226','Perinephric fluid collection','An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.'),('HP:0031227','Nasopharyngeal teratoma','A teratoma arising in the nasopharyngeal region.'),('HP:0031228','Abnormal incisura morphology','An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.'),('HP:0031229','Increased incisura length','The length of the incisura from the upper to lower border is greater than that observed in the average population.'),('HP:0031230','Decreased incisura length','The length of the incisura from the upper to lower border is less than that observed in the average population.'),('HP:0031231','Narrow incisura width','Width of the incisura from the anterior to posterior border less than that observed in the average population.'),('HP:0031232','Increased incisura width','Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.'),('HP:0031233','Horizontal inferior border of scapula','A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).'),('HP:0031234','Neutrophilic infiltration of the skin','A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).'),('HP:0031235','Predominantly epidermal neutrophilic infiltrate','Collection of neutrophils in the epidermis.'),('HP:0031236','Predominantly dermal neutrophilic infiltrate','Collection of neutrophils in the dermis.'),('HP:0031237','Internally nucleated skeletal muscle fibers','An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells).'),('HP:0031238','Necklace skeletal muscle fibers','A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.'),('HP:0031239','Extrafoveal choroidal neovascularization','A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.'),('HP:0031240','Juxtafoveal choroidal neovascularization','A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.'),('HP:0031241','Subfoveal choroidal neovascularization','A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.'),('HP:0031242','Decreased circulating chylomicron concentration','Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.'),('HP:0031243','Decreased VLDL cholesterol concentration','A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.'),('HP:0031244','Swollen lip','Enlargement of the lip typically due to fluid buildup or inflammation.'),('HP:0031245','Productive cough','A cough that produces phlegm or mucus.'),('HP:0031246','Nonproductive cough','A cough that does not produce phlegm or mucus.'),('HP:0031247','Whooping cough','A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.'),('HP:0031248','Palmar pruritus','Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.'),('HP:0031249','Parageusia','A distortion of the sense of taste, often characterized by the sensation of a metallic taste.'),('HP:0031250','Lip fissure','A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.'),('HP:0031251','Abnormal subclavian artery morphology','Any anomaly of a subclavian artery.'),('HP:0031252','Dilated left subclavian artery','Abnormally increased caliber of the left subclavian artery.'),('HP:0031253','Anomalous origin of left subclavian artery','Origin of the left subclavian artery from an anomalous anatomical location.'),('HP:0031254','Thalamic arteriovenous malformation','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.'),('HP:0031255','Hypothalamic arteriovenous malformation','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.'),('HP:0031256','Optic nerve arteriovenous malformation','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.'),('HP:0031257','Arteriovenous malformation of the maxilla','An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.'),('HP:0031258','Delirium','A state of sudden and severe confusion.'),('HP:0031259','Oophoritis','An inflammation of the ovary or ovaries.'),('HP:0031260','Triangular tibia','A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.'),('HP:0031261','Bladder polyp','An abnormal growth that projects from the mucous membrane of the urinary bladder.'),('HP:0031263','Abnormal renal corpuscle morphology','Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.'),('HP:0031264','Abnormal morphology of Bowman capsule','A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.'),('HP:0031265','Abnormal podocyte morphology','Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.'),('HP:0031266','Podocyte foot process effacement','An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.'),('HP:0031267','Abnormal CD69 upregulation upon TCR activation','Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.'),('HP:0031268','Decreased CD69 upregulation upon TCR activation','Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).'),('HP:0031269','Abnormal CD25 upregulation upon TCR activation','Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.'),('HP:0031270','Decreased CD25 upregulation upon TCR activation','Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).'),('HP:0031271','Absent ankle pulse','The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.'),('HP:0031272','Pulmonary arterial atherosclerosis','Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.'),('HP:0031273','Shock','The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.'),('HP:0031274','Hypovolemic shock','A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.'),('HP:0031275','Distributive shock','A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage'),('HP:0031276','Obstructive shock','A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).'),('HP:0031278','Abnormal thoracic duct morphology','Any structural anomaly of the thoracic duct.'),('HP:0031279','Abnormal response to gonadotropin-releasing hormone stimulation test','An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).'),('HP:0031280','Increased LH response to gonadotropin-releasing hormone stimulation test','An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.'),('HP:0031281','Sialadenitis','Inflammation of a salivary gland.'),('HP:0031282','Malalignment of the great toenail','A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.'),('HP:0031283','Tufted hairs','The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.'),('HP:0031284','Flushing','Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.'),('HP:0031285','Abnormal perifollicular morphology','Any structural anomaly in the areas surrounding the hair follicles.'),('HP:0031286','Perifollicular erythema','Redness surrounding the hair follicles.'),('HP:0031287','Seborrheic keratosis','A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.'),('HP:0031288','Cobblestone-like hyperkeratosis','The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.'),('HP:0031289','White papule','A papule with white color.'),('HP:0031290','Tuberous xanthoma','A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.'),('HP:0031291','Ichthyosis follicularis','Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.'),('HP:0031292','Cutaneous abscess','A circumscribed area of pus or necrotic debris in the skin.'),('HP:0031293','Digital pitting scar','Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.'),('HP:0031294','Hypoplastic right atrium','Underdeveloped, small right heart atrium.'),('HP:0031295','Left atrial enlargement','Increase in size of the left atrium.'),('HP:0031296','Atrial septal hypertrophy','An abnormal increase in the thickness of the atrial septum.'),('HP:0031297','Unroofed coronary sinus','Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.'),('HP:0031298','Coronary sinus enlargement','Abnormal increase in size of the coronary sinus.'),('HP:0031299','Elevated left atrial pressure','An abnormal increase in magnitude of the pressure in the left atrium.'),('HP:0031300','Abnormal circulating properdin level','A deviation from the normal concentration of properdin in the blood.'),('HP:0031301','Peripheral arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.'),('HP:0031302','Lower extremity peripheral arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.'),('HP:0031303','Femoral arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.'),('HP:0031304','Iliac arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.'),('HP:0031305','Tibial arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.'),('HP:0031306','Intracranial arterial calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).'),('HP:0031307','Internal carotid artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.'),('HP:0031308','Vertebral artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.'),('HP:0031309','Cerebral artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.'),('HP:0031310','Basilar artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.'),('HP:0031311','Middle cerebral artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.'),('HP:0031313','Abdominal aortic calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.'),('HP:0031314','Carotid artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.'),('HP:0031315','External carotid artery calcification','An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.'),('HP:0031316','Abnormal ventricular myocardium morphology','A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.'),('HP:0031317','Fatty replacement of ventricular myocardial tissue','Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.'),('HP:0031318','Myofiber disarray','A nonparallel arrangement of cardiac myocytes.'),('HP:0031319','Cardiomyocyte hypertrophy','An abnormal increase in the volume of cardiac myocytes.'),('HP:0031320','Cardiomyocyte mitochondrial proliferation','An abnormal increase in the number of mitochondria per cardiac myocyte.'),('HP:0031321','Myocardial immune cell infiltration','An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).'),('HP:0031322','Myocardial lymphocytic infiltration','An increase in the number of lymphocytes in myocardial tissue.'),('HP:0031323','Myocardial eosinophilic infiltration','An increase in the number of eosinophils in myocardial tissue.'),('HP:0031324','Myocardial multinucleated giant cells','The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.'),('HP:0031325','Myocardial granulomatous infiltrates','The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.'),('HP:0031326','Monoclonal light chain cardiac amyloidosis','A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.'),('HP:0031327','Transthyretin cardiac amyloidosis','A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.'),('HP:0031328','Perivascular cardiac fibrosis','A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.'),('HP:0031329','Interstitial cardiac fibrosis','A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.'),('HP:0031330','Perivascular myocardial immune cell infiltration','An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.'),('HP:0031331','Abnormal cardiomyocyte morphology','Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.'),('HP:0031332','Cardiomyocyte degeneration','Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.'),('HP:0031333','Myocardial sarcomeric disarray','A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.'),('HP:0031334','Cardiomyocyte inclusion bodies','Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.'),('HP:0031335','Abnormal cardiomyocyte mitochondrial morphology','An anomaly of the structure of mitochondria within cardiomyocytes.'),('HP:0031336','Intranuclear cardiomyocyte mitochondria','Abnormal localization of mitochondria within the nuclei of cardiomyocytes.'),('HP:0031337','Abnormal cardiomyocyte connexin43 staining','Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.'),('HP:0031338','Abnormal cardiomyocyte plakoglobin staining','Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.'),('HP:0031339','Abnormal cadiomyocyte dystrophin staining','Anomalous staining of dystrophin in cardiomyocytes.'),('HP:0031340','Abnormal lysosomal morphology','A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.'),('HP:0031341','Gastric arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.'),('HP:0031342','Duodenal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.'),('HP:0031343','Jejunal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.'),('HP:0031344','Pelvic arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.'),('HP:0031345','Colonic arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.'),('HP:0031346','Rectal arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.'),('HP:0031347','Uterine arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.'),('HP:0031348','Dextrotransposition of the great arteries','A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.'),('HP:0031349','Levotransposition of the great arteries','A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.'),('HP:0031350','Cardiac sarcoma','A malignant soft tissue neoplasm that arises from the heart.'),('HP:0031351','Calcified amorphous tumor of the heart','A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.'),('HP:0031352','Chest tightness','An unpleasant sensation of tightness or pressure in the chest.'),('HP:0031353','Otitis media with effusion','Otitis media characterized by thick or sticky fluid behind the tympanic membrane.'),('HP:0031354','Sleep onset Insomnia','Difficulty initiating sleep, that is, increased sleep onset latency.'),('HP:0031355','Maintenance insomnia','Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.'),('HP:0031356','Terminal insomnia','A type of insomnia characterized by waking up (too) early in the morning.'),('HP:0031357','Glomeruloid hemangioma','A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.'),('HP:0031358','Vegetative state','Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities).'),('HP:0031359','Cutaneous sclerotic plaque','A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).'),('HP:0031360','Yellow skin plaque','A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.'),('HP:0031361','Zebra bodies','Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.'),('HP:0031362','Sex-limited autosomal recessive inheritance','A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females).'),('HP:0031363','Palpable purpura','A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).'),('HP:0031364','Ecchymosis','A purpuric lesion that is larger than 1 cm in diameter.'),('HP:0031365','Macular purpura','Purpura that is flat (non-palpable, not raised).'),('HP:0031366','Palate neoplasm','A neoplasm that affects the hard palate, soft palate, or uvula.'),('HP:0031367','Metaphyseal striations','Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).'),('HP:0031368','Intestinal perforation','A hole (perforation) in the wall of the intestine.'),('HP:0031369','Colon perforation','A hole (perforation) in the wall of the colon.'),('HP:0031370','Small intestinal perforation','A hole (perforation) in the wall of the small intestine.'),('HP:0031371','Rectal perforation','A hole (perforation) in the wall of the rectum.'),('HP:0031372','Cold paresis','Increased muscle weakness upon exposure to cold temperatures.'),('HP:0031373','Stiff tongue','Increased rigidity and reduced mobility of the tongue.'),('HP:0031374','Ankle weakness','Reduced strength of the muscles that lift or otherwise move the foot at the ankle.'),('HP:0031375','Refractory','Applies to a sign or symptom that is difficult to treat or cure.'),('HP:0031377','Abnormal cell proliferation','Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.'),('HP:0031378','Abnormal lymphocyte proliferation','Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.'),('HP:0031379','Abnormal T cell proliferation','Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.'),('HP:0031380','Abnormal B cell proliferation','Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.'),('HP:0031381','Decreased lymphocyte proliferation in response to mitogen','A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).'),('HP:0031382','Decreased lymphocyte proliferation in response to anti-CD3','A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.'),('HP:0031383','Abnormal lymphocyte surface marker expression','Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.'),('HP:0031384','Reduced T cell CD40 expression','A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.'),('HP:0031385','Megakaryocyte nucleus hypolobulation','The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.'),('HP:0031386','Increased micromegakaryocyte count','The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.'),('HP:0031387','Increased multinucleated megakaryocyte count','The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.'),('HP:0031388','Megakaryocyte nucleus hyperlobulation','The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.'),('HP:0031389','Abnormal MHC II surface expression','A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.'),('HP:0031390','Reduced MHC II surface expression','A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.'),('HP:0031391','Elevated MHC II surface expression','An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.'),('HP:0031392','Abnormal proportion of CD4-positive T cells','Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.'),('HP:0031393','Abnormal proportion of CD8-positive T cells','Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.'),('HP:0031394','Abnormal CD4:CD8 ratio','Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.'),('HP:0031396','Abnormal proportion of naive T cells','Any abnormality in the proportion of naive T cells relative to the total number of T cells.'),('HP:0031397','Decreased proportion of naive T cells','An abnormally decreased proportion of naive T cells relative to the total number of T cells.'),('HP:0031398','Increased proportion of naive T cells','An abnormally increased proportion of naive T cells relative to the total number of T cells.'),('HP:0031399','Abnormal proportion of double-negative alpha-beta regulatory T cell','An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.'),('HP:0031401','Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells','An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.'),('HP:0031402','Reduced antigen-specific T cell proliferation','Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.'),('HP:0031403','Impaired pathogen-specific CD8 cytoxicity','Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.'),('HP:0031404','Impaired antigen-specific response','An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).'),('HP:0031405','Poroma','A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].'),('HP:0031406','Abnormal cytokine signaling','Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.'),('HP:0031407','Impaired cytokine signaling','A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.'),('HP:0031408','Increased proportion of CD25+ mast cells','An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).'),('HP:0031409','Abnormal lymphocyte physiology','Any anomaly of lymphocyte function.'),('HP:0031410','Abnormal distribution of CD56 bright/dim natural killer cells','An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.'),('HP:0031411','Abnormal chromosome morphology','Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.'),('HP:0031412','Abnormal telomere morphology',''),('HP:0031413','Short telomere length','An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.'),('HP:0031414','High serum calcifediol','An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.'),('HP:0031415','High serum calcitriol','An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.'),('HP:0031416','Abnormal nasal mucus secretion','Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.'),('HP:0031417','Rhinorrhea','Increased discharge of mucus from the nose.'),('HP:0031418','Increased body mass index','Abnormally increased weight-to-height squared ratio, calculated by dividing the individual`s weight in kilograms by the square of the individual`s height in meters and used as an indicator of overweight compared to averages.'),('HP:0031419','Reduced sex -hormone binding protein level','A decreased concentration of sex-hormone binding protein in the circulation.'),('HP:0031420','Small yellow foveal lesion with surrounding gray zone','A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.'),('HP:0031421','Small superior frontal cortex','Reduced size of the superior frontal portion of the cerebral cortex.'),('HP:0031422','Abnormal morphology of the cerebellar cortex','Any structural anomaly of the cortex of the cerebellum.'),('HP:0031423','Small cerebellar cortex','Reduced size of the cerebellar cortex.'),('HP:0031424','Abnormal circulating beta-C-terminal telopeptide level','A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.'),('HP:0031425','Increased circulating beta-C-terminal telopeptide level','A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.'),('HP:0031426','Decreased circulating beta-C-terminal telopeptide level','A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.'),('HP:0031427','Abnormal circulating osteocalcin level','A deviation from the normal concentration of osteocalcin in the blood circulation.'),('HP:0031428','Increased circulating osteocalcin level','An elevated level of osteocalcin in the blood.'),('HP:0031429','Decreased circulating osteocalcin level','A reduced level of osteocalcin in the blood.'),('HP:0031430','Oligoclonal T cell expansion','The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.'),('HP:0031431','Persistent repetition of words','Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others.'),('HP:0031432','Persistent repetition of actions','Repeated and inappropriate mechanical repetition of actions.'),('HP:0031433','Alexithymia','A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others.'),('HP:0031434','Abnormal speech prosody','An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm.'),('HP:0031435','Monotonic speech','A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.'),('HP:0031436','Increased pitch variability of speech','A speech pattern characterized by abnormally elevated variability of the pitch of the voice.'),('HP:0031437','Pregnancy exposure','Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.'),('HP:0031438','Abnormal sex hormone-binding globulin level','A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.'),('HP:0031439','Abnormal angiostatin level','A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.'),('HP:0031440','obsolete Abnormal tricuspid valve morphology',''),('HP:0031441','Abnormal tricuspid valve annulus morphology','Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.'),('HP:0031442','Abnormal tricuspid chordae tendinae morphology','Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.'),('HP:0031443','Abnormal tricuspid valve leaflet morphology','Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.'),('HP:0031444','Dilatation of the tricuspid annulus','An increase in the diameter of the ring (annulus) of the tricuspid valve.'),('HP:0031445','Oral mucosa nodule','A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.'),('HP:0031446','Erosion of oral mucosa','Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.'),('HP:0031447','Penile freckling','Multiple pigmented macules located on the skin of the penis.'),('HP:0031448','Herpetiform vesicles','Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.'),('HP:0031449','Perineal hemangioma','Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.'),('HP:0031450','Polycyclic','A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.'),('HP:0031451','Lower extremity subcutanous fat hypertrophy','An abnormal increase in the amount of subcutaneous fat in the legs.'),('HP:0031452','Lichenoid skin lesion','Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.'),('HP:0031453','Oral lichenoid lesion','Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.'),('HP:0031454','Apocrine hidrocystoma','A cystic lesions that forms a benign tumor of an apocrine sweat gland.'),('HP:0031455','Presacral ganglioneuroma','A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.'),('HP:0031456','Ectopic pregnancy','A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).'),('HP:0031457','Pulmonary opacity','Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image).'),('HP:0031458','Adenoiditis','An inflammation of the adenoid tissue.'),('HP:0031459','Soft tissue neoplasm','A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.'),('HP:0031460','Benign muscle neoplasm','A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].'),('HP:0031461','Intramuscular Myxoma','A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.'),('HP:0031462','Musculotendinous retraction','Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.'),('HP:0031463','Esophageal squamous papilloma','A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.'),('HP:0031464','Genital blistering','The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.'),('HP:0031465','Abnormal vasa vasorum morphology','A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.'),('HP:0031466','Impairment in personality functioning','A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.'),('HP:0031467','Negative affectivity','A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.'),('HP:0031468','Separation insecurity','Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy.'),('HP:0031469','Low self esteem','Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.'),('HP:0031472','Risk taking','Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one`s limitations and denial of the reality of personal danger.'),('HP:0031473','Hostility','Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.'),('HP:0031474','Pulmonary chondroma','A benign cartilaginous tumors of the lung.'),('HP:0031475','Status epilepticus without prominent motor symptoms','There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.'),('HP:0031476','Abnormal buccal mucosa cell morphology','Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).'),('HP:0031477','obsolete Abnormal mitral valve morphology',''),('HP:0031478','Abnormal mitral valve annulus morphology','Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.'),('HP:0031479','Dilatation of the mitral annulus','An increase in the diameter of the ring (annulus) of the mitral valve.'),('HP:0031480','Abnormal mitral valve leaflet morphology','Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.'),('HP:0031481','Abnormal mitral valve physiology','Any functional anomaly of the mitral valve.'),('HP:0031482','Abnormal regional left ventricular contraction','A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.'),('HP:0031483','Reduced contraction of the left ventricular apex','Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.'),('HP:0031484','Cold-induced hemolysis','A form of hemolytic anemia that can be triggered by cold temperatures.'),('HP:0031485','Subperiosteal bone formation','The formation of new bone along the cortex and underneath the periosteum of a bone.'),('HP:0031486','Vascular malformation of the lip','An anomaly of blood vessels located in the lip.'),('HP:0031487','Capillary malformation of the lip','A vascular malformation located in the lip that is characterized by\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.'),('HP:0031488','Arteriovenous malformation of the lip','A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.'),('HP:0031489','Venous malformation of the lip','A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.'),('HP:0031490','Hemangioma of the lip','A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.'),('HP:0031491','Continuous spike and waves during slow sleep','Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.'),('HP:0031492','Epithelial neoplasm','A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].'),('HP:0031493','Glandular cell neoplasm','A tumor that arises from a gland cell.'),('HP:0031494','Ovarian mucinous tumor','Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.'),('HP:0031495','Mucinous neoplasm',''),('HP:0031496','Mucinous cystic neoplasm of the pancreas','Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.'),('HP:0031497','Mucinous colorectal carcinoma','A subtype of colorectal carcinoma with mucin lakes.'),('HP:0031498','Mucinous gastric carcinoma','A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.'),('HP:0031499','Appendiceal mucinous neoplasm','An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.'),('HP:0031500','Abdominal mass','An abnormal enlargement or swelling in the abdomen.'),('HP:0031501','Pelvic mass','An abnormal enlargement or swelling in the pelvic region.'),('HP:0031502','Trophoblastic tumor','A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].'),('HP:0031503','Night gasping','Waking up at night gasping for breath.'),('HP:0031504','Foamy urine','Urine has an increased amount of frothy fine bubbles.'),('HP:0031505','Abnormal circulating thyroxine level','A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).'),('HP:0031506','Increased circulating thyroxine level','An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).'),('HP:0031507','Decreased circulating thyroxine level','A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).'),('HP:0031508','Abnormal thyroid hormone level','Any deviation from the normal range of the hormones produced by the thyroid gland.'),('HP:0031509','Dry nipple',''),('HP:0031510','Linear earlobe crease','A transverse linear fissure (crease) in the lobule of the ear.'),('HP:0031511','Diagonal earlobe crease','Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.'),('HP:0031512','Abnormal cutaneous collagen fibril morphology',''),('HP:0031513','Luse bodies','Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.'),('HP:0031514','Increased proportion of exhausted T cells','An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.'),('HP:0031515','Abnormal meiosis','Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.'),('HP:0031516','Oocyte arrest at metaphase I','Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.'),('HP:0031517','Verruciform xanthoma','A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.'),('HP:0031518','Absent posterior alpha rhythm','Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.'),('HP:0031519','Cauliflower deformity of dermal collagen fibrils','An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.'),('HP:0031520','Groin pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.'),('HP:0031521','Vaginal clear cell adenocarcinoma','A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.'),('HP:0031522','Cervical clear cell adenocarcinoma','A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.'),('HP:0031523','Salivary gland oncocytoma','A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)'),('HP:0031524','Ampulla of Vater carcinoma','A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.'),('HP:0031525','Keratoacanthoma','Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.'),('HP:0031526','Subretinal fluid','Edema/fluid accumulating between the retinal pigment epithelium and Bruch`s membrane.'),('HP:0031527','Intraretinal fluid','Edema/fluid accumulating within the retinal layers.'),('HP:0031528','Subretinal deposits','Deposits accumulating between the outer retina and the retinal pigment epithelium.'),('HP:0031529','Focal subretinal deposits','Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.'),('HP:0031530','Multifocal subretinal deposits','Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.'),('HP:0031531','Sub-RPE deposits','Deposits accumulating between the retinal pigment epithelium and Bruch`s membrane.'),('HP:0031532','Focal sub-RPE deposits','Deposits accumulating between the retinal pigment epithelium and Bruch`s membrane and that are distributed in a single focus.'),('HP:0031533','Multifocal sub-RPE deposits','Deposits accumulating between the retinal pigment epithelium and Bruch`s membrane and that are distributed in multiple foci.'),('HP:0031534','Passive dorsiflexion of the 5th finger more than 90 degrees','An abnormally increased ability to bend (dorsiflex) one`s fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.'),('HP:0031535','Increased theta frequency activity in EEG','Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.'),('HP:0031536','Separate origin of the left anterior descending and left circumflex artery','Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).'),('HP:0031537','Anomalous origin of the left circumflex artery from the right coronary artery','An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).'),('HP:0031538','Abnormal dermoepidermal junction morphology','Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.'),('HP:0031539','Linear IgA deposits along the epidermal basement membrane zone','Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.'),('HP:0031540','Linear IgG deposits along the epidermal basement membrane zone','Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.'),('HP:0031541','Linear C3 deposits along the epidermal basement membrane zone','Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.'),('HP:0031542','Myelin-like whorls in vacuolated fibers','Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.'),('HP:0031544','Elevated propionylcarnitine level','An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.'),('HP:0031545','Abnormally low T cell receptor excision circle level','Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.'),('HP:0031546','Cardiac conduction abnormality','Any anomaly of the progression of electrical impulses through the heart.'),('HP:0031547','Abnormal QT interval','Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).'),('HP:0031548','Follicular infundibulum tumor','A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.'),('HP:0031549','Lymphocytoma cutis','Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.'),('HP:0031550','Abnormal flow cytometry test result','Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.'),('HP:0031551','Reduced cell surface marker level','Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.'),('HP:0031552','Reduced fibroblast surface marker level','Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.'),('HP:0031553','Reduced granulocyte surface marker level','Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.'),('HP:0031554','Reduced granulocyte CD55 level','Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.'),('HP:0031555','Reduced granulocyte CD59 level','Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.'),('HP:0031556','Reduced granulocyte CD16 level','Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.'),('HP:0031557','Reduced fibroblast CD55 level','Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.'),('HP:0031558','Reduced fibroblast CD59 level','Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.'),('HP:0031559','Reduced fibroblast CD16 level','Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.'),('HP:0031560','Coronary cameral fistula','An abnormal communication between coronary artery and a cardiac chamber.'),('HP:0031561','Coronary cameral fistula to right ventricle','An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.'),('HP:0031562','Balanced double aortic arch','A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.'),('HP:0031563','Coronary arteriovenous fistula','An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.'),('HP:0031564','Bronchial isomerism','An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).'),('HP:0031565','Abdominal situs ambiguus','An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.'),('HP:0031566','Abnormal pulmonary valve cusp morphology','Any structural anomaly of the pulmonary valve leaflets.'),('HP:0031567','Abnormal aortic valve cusp morphology','Any structural anomaly of the aortic valve leaflets.'),('HP:0031568','Thickened aortic valve cusp','An abnormally increased thickness of a leaflet of the aortic valve.'),('HP:0031569','Absent aortic valve cusps','A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.'),('HP:0031570','Tessier number 0 facial cleft','A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.'),('HP:0031571','Paramedian facial cleft','A type of facial cleft located near to but not directly on the midline of the face.'),('HP:0031572','Tessier number 1 facial cleft','As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid`s bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.'),('HP:0031573','Tessier number 2 facial cleft','As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.'),('HP:0031574','Orbital cleft','A facial cleft characterized by involvement of the orbit.'),('HP:0031575','Tessier number 3 facial cleft','As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.'),('HP:0031576','Tessier number 4 facial cleft','The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.'),('HP:0031577','Tessier number 5 facial cleft','The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.'),('HP:0031578','Tessier number 6 facial cleft','A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.'),('HP:0031579','Tessier number 7 facial cleft','The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.'),('HP:0031580','Tessier number 8 facial cleft','The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ``Goldenhar syndrome``. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.'),('HP:0031581','Tessier number 9 facial cleft','This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.'),('HP:0031582','Tessier number 10 facial cleft','In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.'),('HP:0031583','Tessier number 11 facial cleft','An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.'),('HP:0031584','Tessier number 12 facial cleft','There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.'),('HP:0031585','Tessier number 13 facial cleft','There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow`s peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.'),('HP:0031586','Tessier number 14 facial cleft','This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.'),('HP:0031587','Tessier number 30 facial cleft','A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.'),('HP:0031588','Unhappy demeanor','A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.'),('HP:0031589','Suicidal ideation','Frequent thinking about or preoccupation with killing onself.'),('HP:0031590','Asthenopia','Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to `overuse` of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.'),('HP:0031591','Enlarged Eustachian valve','An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.'),('HP:0031592','Situs inversus with levocardia','Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.'),('HP:0031593','Abnormal PR interval','An anomaly of the PR interval, which is the portion of the ECG from the end of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.'),('HP:0031594','PR segment depression','A reduction in voltage of the PR segment below baseline.'),('HP:0031595','Abnormal P wave','Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.'),('HP:0031596','Abnormal PR segment','An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.'),('HP:0031597','PR segment elevation','An increase in voltage of the PR segment above baseline.'),('HP:0031598','Notched P wave','V-shaped cut (notch) in the middle of the P wave.'),('HP:0031599','P mitrale','A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.'),('HP:0031600','P wave inversion','P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.'),('HP:0031601','P pulmonale','The presence of tall, peaked P waves in EKG lead II.'),('HP:0031602','Abnormal mucociliary clearance','An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \nbeating.'),('HP:0031603','Impaired nasal mucociliary clearance','An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.'),('HP:0031604','Agenesis of the carotid canal','A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.'),('HP:0031605','Abnormality of fundus pigmentation','Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.'),('HP:0031606','Retinal cotton wool spot','Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.'),('HP:0031607','Pelvic organ prolapse','Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.'),('HP:0031609','Geographic atrophy','Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.'),('HP:0031610','Recurrent shoulder dislocation','Shoulder dislocation occurring repeated times.'),('HP:0031611','Sub-inner limiting membrane hemorrhage','A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.'),('HP:0031613','Inferior chorioretinal coloboma','Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.'),('HP:0031614','Inferior retinal coloboma','A notch or cleft of the lower part of the retina.'),('HP:0031615','Hypopyon','Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.'),('HP:0031616','Anterior chamber flare','An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.'),('HP:0031618','Anterior chamber flare grade 1+','Faint anterior chamber flare.'),('HP:0031619','Anterior chamber flare grade 2+','Moderate anterior chamber flare (iris and lens details clear).'),('HP:0031620','Anterior chamber flare grade 3+','Marked anterior chamber flare (iris and lens details hazy).'),('HP:0031621','Anterior chamber flare grade 4+','Intense anterior chamber flare (fibrin/plastic aqueous).'),('HP:0031622','Brown anomaly','An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.'),('HP:0031623','Brow ptosis','Drooping of the upper eyebrow below the superior orbital rim.'),('HP:0031624','Moderate myopia','A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.'),('HP:0031625','Pseudoaneurysm',''),('HP:0031626','Coronary ostial atresia','Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.'),('HP:0031627','Globus pallidus calcification','Pathological deposition of calcium salts in the globus pallidus.'),('HP:0031628','Aborted sudden cardiac death','Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.'),('HP:0031629','Impaired tandem gait','Reduced ability to walk in a straight line while placing the feet heel to toe.'),('HP:0031630','Abnormal subpleural morphology','Any structural anomaly located between the pleura and the chest wall.'),('HP:0031631','Subpleural honeycombing','So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.'),('HP:0031632','Anomalous origin of the right subclavian artery from the descending aorta','Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.'),('HP:0031633','Isolation of the left subclavian artery','The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.'),('HP:0031634','Anomalous origin of the left common carotid artery from the main pulmonary artery','The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.'),('HP:0031635','Anomalous origin of the left common carotid artery from the brachiocephalic artery','The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.'),('HP:0031636','Anomalous origin of the right common carotid artery from the aorta','The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.'),('HP:0031637','Right coronary artery ostial atresia','Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.'),('HP:0031638','Anomalous origin of the left anterior descending artery from the pulmonary artery','The left anterior descending artery (LAD) branches off from the pulmonary artery.'),('HP:0031639','Absent left main coronary artery','The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.'),('HP:0031640','Abnormal radial artery morphology','Any structural anomaly of the radial artery.'),('HP:0031643','Fusiform ascending tubular aorta aneurysm','An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall.'),('HP:0031644','Fusiform abdominal aortic aneurysm','A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall'),('HP:0031645','Saccular abdominal aortic aneurysm','An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.'),('HP:0031646','Fusiform aortic arch aneurysm','A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.'),('HP:0031647','Saccular aortic arch aneurysm','An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.'),('HP:0031648','Penetrating aortic ulcer','A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.'),('HP:0031649','Aortic rupture','Tearing of the aortic wall generally associated with profuse internal bleeding.'),('HP:0031650','Abnormal atrioventricular valve physiology','Any functional defect of the mitral or tricuspid valve.'),('HP:0031651','Abnormal tricuspid valve physiology','Any functional defect of the tricuspid valve.'),('HP:0031652','Abnormal aortic valve physiology',''),('HP:0031653','Abnormal heart valve physiology','Any functional abnormality of a cardiac valve.'),('HP:0031654','Abnormal pulmonary valve physiology','Any functional anomaly of the pumonary valve.'),('HP:0031655','Quadricuspid aortic valve','The presence of an aortic valve with four instead of the normal three cusps (flaps).'),('HP:0031656','Systolic anterior motion of the mitral valve','Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.'),('HP:0031657','Abnormal heart sound','Any abnormal noise generated by the beating heart.'),('HP:0031658','Third heart sound','The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.'),('HP:0031659','Fourth heart sound',''),('HP:0031660','Loud first heart sound','Abnormally increased volume of the first heart sound.'),('HP:0031661','Abnormal second heart sound','Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.'),('HP:0031662','Fixed splitting of the second heart sound','Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.'),('HP:0031663','Paradoxical splitting of the second heart sound','Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).'),('HP:0031664','Systolic heart murmur','A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.'),('HP:0031665','Midsystolic murmur','A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.'),('HP:0031666','Late systolic murmur','A murmur that occurs in the latter phase of systole.'),('HP:0031667','Holosystolic murmur','A heart murmur that occurs during the entire systolic phase from S1 to S2.'),('HP:0031668','Diastolic heart murmur','A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.'),('HP:0031669','Middiastolic murmur','A murmur that occurs in the middle of the diastolic phase.'),('HP:0031670','Continuous heart murmur','A murmur that occurs in both systole and diastole.'),('HP:0031671','Typical atrial flutter','Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient`s previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.'),('HP:0031672','Reverse typical atrial flutter','A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.'),('HP:0031673','Orthodromic atrioventricular reentrant tachycardia','A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.'),('HP:0031674','Antidromic atrioventricular reentrant tachycardia','A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.'),('HP:0031675','Fascicular left ventricular tachycardia','A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).'),('HP:0031676','Monomorphic ventricular tachycardia','A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).'),('HP:0031677','Polymorphic ventricular tachycardia','A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).'),('HP:0031678','Atherosclerotic lesion','A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.'),('HP:0031679','Type I atherosclerotic lesion','Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).'),('HP:0031680','Type II atherosclerotic lesion','Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.'),('HP:0031681','Type III atherosclerotic lesion','Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.'),('HP:0031682','Type V atherosclerotic lesion','Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.'),('HP:0031683','Type VI atherosclerotic lesion','Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.'),('HP:0031684','Renal artery atherosclerosis','An atherosclerotic lesion located in the renal artery.'),('HP:0031685','Abnormal stool composition',''),('HP:0031686','Increased stool alpha1-antitrypsin concentration','An abnormally elevated amount of alpha1-antitrypsin in the feces.'),('HP:0031687','Abnormally loud pulmonic component of the second heart sound',''),('HP:0031688','Erythroid dysplasia','Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.'),('HP:0031689','Megakaryocyte dysplasia','The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.'),('HP:0031690','Opportunistic infection','An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.'),('HP:0031691','Severe viral infection','An unusually severe viral infection.'),('HP:0031692','Severe cytomegalovirus infection','An unusually severe infection by cytomegalovirus.'),('HP:0031693','Severe Epstein Barr virus infection','An unusually severe Epstein Barr virus (EBV) infection.'),('HP:0031694','Severe adenovirus infection','An unusually severe adenovirus infection.'),('HP:0031695','Severe parainfluenza infection','An unusually severe infection by a parainfluenza virus.'),('HP:0031696','Disseminated viral infection','A viral infection that fails to be contained by the immune sytem and spreads throughout the body.'),('HP:0031697','Disseminated infection with live vaccine virus','A dissemination viral infection caused by a live attenuated vaccine virus.'),('HP:0031698','Disseminated Bacillus Calmette-Guerin infection','Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.'),('HP:0031699','Disseminated cryptosporidium infection','Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.'),('HP:0031700','Invasive parasitic infection','A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.'),('HP:0031701','Anterior chamber inflammatory cells','The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.'),('HP:0031702','Anterior chamber red blood cells','The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.'),('HP:0031703','Abnormal ear morphology','Any structural anomaly of the ear.'),('HP:0031704','Abnormal ear physiology','Any functional anomaly of the ear.'),('HP:0031705','Compensatory head posture','A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.'),('HP:0031706','Compensatory chin depression','A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.'),('HP:0031707','Compensatory face turn to the right','A tendency to turn the face to the right to compensate for a limitation of eye movement.'),('HP:0031708','Compensatory face turn to the left','A tendency to turn the face to the left to compensate for a limitation of eye movement.'),('HP:0031709','Compensatory head tilt to the right shoulder','A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.'),('HP:0031710','Compensatory head tilt to the left shoulder','A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.'),('HP:0031711','Asymmetric abdominal aortic aneurysm','An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).'),('HP:0031713','Constant exotropia','A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.'),('HP:0031714','Distance exotropia','A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.'),('HP:0031715','Near exotropia','An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).'),('HP:0031716','Cyclic exotropia','A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.'),('HP:0031717','Alternating exotropia','A type of exotropia in which either eye may be used for fixation.'),('HP:0031718','Consecutive exotropia','Exotropia in an individual who has previously had esotropia or esophoria.'),('HP:0031719','True distance exotropia','Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.'),('HP:0031720','Simulated distance exotropia','Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.'),('HP:0031721','Sensory exotropia','A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.'),('HP:0031722','Near esotropia','An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.'),('HP:0031723','Secondary esotropia','Convergent squint which follows loss or impairment of vision.'),('HP:0031724','Microtropia','A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.'),('HP:0031725','Hypophoria','A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.'),('HP:0031726','Incyclotropia','A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.'),('HP:0031727','Excyclotropia','A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.'),('HP:0031728','Mild hypermetropia','A form of hypermetropia with not more than +2.00 diopters.'),('HP:0031729','Moderate hypermetropia','A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.'),('HP:0031730','Axial myopia','A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.'),('HP:0031731','Increased tear production','Increased lacrimation owing to overproduction of tears.'),('HP:0031732','Increased basal tear production','A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.'),('HP:0031733','Reflex tearing','A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).'),('HP:0031734','Lacrimal pump failure','A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.'),('HP:0031736','Involutional entropion','An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.'),('HP:0031737','Cicatricial entropion','Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.'),('HP:0031738','Mechanical entropion','A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.'),('HP:0031739','Abnormal oblique muscle physiology','A functional anomaly of the inferior or superior oblique muscle.'),('HP:0031740','Abnormal horizontal rectus muscle physiology','A functional anomaly of the medial rectus muscle or lateral rectus muscle.'),('HP:0031741','Inferior oblique muscle underaction','Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031742','Inferior rectus muscle underaction','Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031743','Inferior rectus muscle overaction','Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031744','Superior rectus muscle weakness','Decreased strength of the superior rectus muscle.'),('HP:0031745','Superior rectus muscle overaction','Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031746','Superior rectus muscle restriction','Mechanical limitation of the range of movement of the superior rectus muscle.'),('HP:0031747','Superior rectus muscle underaction','Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031748','Abnormal vertical rectus muscle physiology','A functional anomaly of the superior or inferior rectus muscle.'),('HP:0031749','Abnormal lateral rectus muscle physiology','A functional anomaly of the lateral rectus muscle.'),('HP:0031750','Lateral rectus muscle weakness','Decreased strength (ability to move) of the lateral rectus muscle.'),('HP:0031751','Lateral rectus muscle underaction','Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031752','Lateral rectus muscle overaction','Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031753','Medial rectus muscle weakness','Decreased strength of the medial rectus muscle.'),('HP:0031754','Medial rectus muscle overaction','Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.'),('HP:0031755','Abnormal rectus muscle physiology','A functional anomaly of a vertical or horizontal rectus muscle.'),('HP:0031756','Medial rectus muscle underaction','Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.'),('HP:0031757','Medial rectus muscle restriction','Mechanical limitation of the range of movement of the medial rectus muscle.'),('HP:0031758','Lateral rectus muscle restriction','Mechanical limitation of the range of movement of the lateral rectus muscle.'),('HP:0031759','Basic constant esotropia','A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).'),('HP:0031760','Non-accomodative esotropia','A form of esotropia in which the angle of deviation is not affected by accommodative effort.'),('HP:0031761','Infantile constant esotropia','Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.'),('HP:0031762','Distance esotropia','An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.'),('HP:0031763','Cyclic esotropia','Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.'),('HP:0031764','Fully accomodative esotropia','Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.'),('HP:0031765','Partially accomodative esotropia','A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.'),('HP:0031766','Convergence excess esotropia','An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.'),('HP:0031767','Consecutive esotropia','Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.'),('HP:0031768','Parafoveal fixation','Fixation of an object in the area adjacent to the fovea.'),('HP:0031769','Peripheral fixation','Fixation of an object in a peripheral area of the retina.'),('HP:0031770','Epicanthus palpebralis','A type of epicanthus in which a medial vertical fold is present between upper and lower lids.'),('HP:0031771','Epicanthus tarsalis','A type of epicanthus in which a primarily upper lid fold is present.'),('HP:0031772','Abnormal posterior circulating artery morphology','Any structural anomaly of the posterior circulating artery (PCOM).'),('HP:0031773','Posterior communicating artery aneurysm','A widening (ballooning) localized in the wall of the posterior communicating artery.'),('HP:0031774','Posterior communicating artery infundibulum','A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.'),('HP:0031775','Neurogenic strabismus','An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.'),('HP:0031776','Cyclotropia','A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).'),('HP:0031777','Cyclophoria','A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.'),('HP:0031778','Incyclophoria','A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.'),('HP:0031779','Excyclophoria','A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.'),('HP:0031780','Eosinophilic ascites','A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.'),('HP:0031781','Microtropia with identity','A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.'),('HP:0031782','Microtropia without identity','A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.'),('HP:0031783','Absent coronary sinus','A developmental defect in which the coronary sinus fails to form.'),('HP:0031784','Abnormal ascending aorta morphology','Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.'),('HP:0031785','Abnormal eyelid movement','An abnormality in voluntary or involuntary eyelid movements or their control.'),('HP:0031786','Cogan lid twitch','Transient eyelid retraction during refixation from down to straight ahead.'),('HP:0031787','Oblique astigmatism','Astigmatism in which the refractive power of the vertical meridian is the greatest.'),('HP:0031788','With the rule astigmatism','Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).'),('HP:0031789','Against the rule astigmatism','Astigmatism with more plus power on the horizontal meridian.'),('HP:0031790','Mixed astigmatism','A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).'),('HP:0031791','Lenticular astigmatism','A type of astigmatism related to an irregular shape of the lens.'),('HP:0031792','Irregular astigmatism','A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.'),('HP:0031793','Increased serum leptin','An increased concentration of leptin in the blood.'),('HP:0031794','Decreased circulating glycerol level','A decrease below the normal concentration of glycerol in the blood.'),('HP:0031795','Abnormal circulating glycerol level','Any deviation from the normal concentration of glycerol in the blood.'),('HP:0031796','Recurrent','Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.'),('HP:0031797','Clinical course','The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.'),('HP:0031798','Elevated apolipoprotein B level','Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.'),('HP:0031799','Decreased apolipoprotein AI level','Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.'),('HP:0031800','Elevated apolipoprotein A-II level','An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.'),('HP:0031801','Vocal cord dysfunction','Any functional anomaly of the vocal cord.'),('HP:0031803','Fundus hemorrhage','Bleeding within the fundus of the eye.'),('HP:0031804','Premacular hemorrhage',''),('HP:0031805','Intraretinal hemorrhage','A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be `dot` or` blot` shaped or flame shaped depending upon their depth within the retina.'),('HP:0031806','Abnormal basophil count','Any deviation from the normal number of basophils per volume in the blood circulation.'),('HP:0031807','Increased basophil count','An abnormally increased count of basophils per volume in the blood circulation.'),('HP:0031808','Decreased basophil count','An abnormally reduced count of basophils per volume in the blood circulation.'),('HP:0031809','Archibald`s sign','Shortening of the fourth and fifth metacarpals when the fist is clenched.'),('HP:0031810','Anti-ganglioside antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.'),('HP:0031811','Bilirubinuria','Presence of conjugated bilirubin in the urine.'),('HP:0031812','Nitrituria','Presence of nitrites in the urine.'),('HP:0031813','Colonic eosinophilia','An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.'),('HP:0031814','Palilalia','Repetition of one`s own words or phrases.'),('HP:0031815','Abnormal oral physiology','A functional anomaly of the mouth (which is also known as the oral cavity).'),('HP:0031816','Abnormal oral morphology','Any structural anomaly of the mouth, which is also known as the oral cavity.'),('HP:0031817','Decreased circulating parathyroid hormone level','An abnormally decreased concentration of parathyroid hormone.'),('HP:0031818','Abnormal waist to hip ratio','A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.'),('HP:0031819','Increased waist to hip ratio','Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.'),('HP:0031820','Decreased waist to hip ratio','Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.'),('HP:0031821','Abnormal hypoxanthine-guanine phosphoribosyltransferase level','Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.'),('HP:0031822','Elevated hypoxanthine-guanine phosphoribosyltransferase level','Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.'),('HP:0031823','Reduced hypoxanthine-guanine phosphoribosyltransferase level','Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.'),('HP:0031824','Hepatic mastocytosis','Liver mast cell infiltration.'),('HP:0031825','Freezing of gait','Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.'),('HP:0031826','Abnormal reflex','Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).'),('HP:0031827','Absent abdominal reflex','Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.'),('HP:0031828','Abnormal superficial reflex','An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.'),('HP:0031829','Absent cremaster reflex','Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.'),('HP:0031830','Pinguecula','A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.'),('HP:0031831','Decreased serum zinc','A reduced concentration of zinc in the blood.'),('HP:0031832','Hypermetric downward saccades','Overshoot of downward saccadic eye movements.'),('HP:0031833','Hypometric upward saccades','Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.'),('HP:0031834','Aortopulmonary collateral arteries','Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.'),('HP:0031835','Abnormal superoxide dismutase level','An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.'),('HP:0031836','Increased superoxide dismutase level','Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.'),('HP:0031837','Decreased superoxide dismutase level','Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.'),('HP:0031838','Presence of xenobiotic','Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.'),('HP:0031840','Urine xenobiotic','The presence of a xenobiotic in urine.'),('HP:0031841','Positive urine methadone test','Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.'),('HP:0031842','Lymphangiectasis','Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.'),('HP:0031843','Bradyphrenia','Abnormal slowness of thought processes.'),('HP:0031844','Euphoria','A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.'),('HP:0031845','Abnormal libido','Any deviation from the normal sexual drive or desire for sexual activity.'),('HP:0031846','Femur fracture','A break or crush injury of the thigh bone (femur).'),('HP:0031847','Difficulty walking backward','Reduced ability to walk (ambulate) in a backwards direction.'),('HP:0031848','Cock-walk gait','An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.'),('HP:0031849','Sleep-wake inversion','A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.'),('HP:0031850','Abnormal hematocrit','Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.'),('HP:0031851','Reduced hematocrit','A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.'),('HP:0031853','Isomerism','Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.'),('HP:0031854','Left Isomerism','A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.'),('HP:0031855','Right isomerism','A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.'),('HP:0031856','Hobby horse gait','An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.'),('HP:0031857','Ineffective esophageal peristalsis','Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.'),('HP:0031858','Esophageal furrows','Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).'),('HP:0031860','Abnormal heart rate variability','Any abnormality in the variability of the time interval between successive heartbeats.'),('HP:0031861','Decreased heart rate variability','Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.'),('HP:0031862','Increased heart rate variability','Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.'),('HP:0031863','Bloodstream infectious agent','The presence of an infectious agent in the blood circulation.'),('HP:0031864','Bacteremia','Presence of viable bacteria in the blood.'),('HP:0031865','Abnormal liver physiology','Any functional anomaly of the liver.'),('HP:0031866','Clasp-knife sign','Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.'),('HP:0031867','Neck hypertonia','Increased passive stiffness or tightness of the neck musculature.'),('HP:0031868','Optic ataxia','Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.'),('HP:0031869','Recurrent joint dislocation','Dislocation of a given joint repeated times.'),('HP:0031870','Phosphohydroxylysinuria','An elevated concentration of phosphohydroxylysine in the urine.'),('HP:0031871','Abnormal Langerhans cell morphology','Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.'),('HP:0031872','Absent Birbeck granules in Langerhans cells','Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.'),('HP:0031873','Early chronotype','A tendency towards rising very early in the morning and going to bed early in the evening.'),('HP:0031874','Late chronotype','A tendency towards rising very late in the morning and going to bed late at night.'),('HP:0031875','Abnormal hepcidin level','Any deviation from the normal concentration of hepcidin in the blood circulation.'),('HP:0031876','Decreased hepcidin level','An abnormally reduced concentration of hepcidin in the blood circulation.'),('HP:0031877','Elevated hepcidin level','An abnormally increased concentration of hepcidin in the blood circulation.'),('HP:0031878','Acromicria','Small hands and feet in proportion to the rest of the body.'),('HP:0031879','Abnormal eyelid physiology','Any functional abnormality of the eyelid.'),('HP:0031880','Eyelid laxity','Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.'),('HP:0031881','Decreased tear drainage','A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.'),('HP:0031882','Agyria','A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.'),('HP:0031883','Increased proinsulin:insulin ratio','An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.'),('HP:0031884','Abnormal CSF glucose level','A deviation from normal concentration of glucose content in the cerebrospinal fluid.'),('HP:0031885','Hyperglycorrhachia','Abnormally high glucose concentration in the cerebrospinal fluid.'),('HP:0031886','Abnormal LDL cholesterol concentration','Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.'),('HP:0031887','Abnormal chylomicron concentration','Any deviation from the normal circulating concentration of chylomicrons.'),('HP:0031888','Abnormal HDL cholesterol concentration','Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.'),('HP:0031889','Abnormal VLDL cholesterol concentration','Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.'),('HP:0031890','Increased urine urobilinogen','An elevated concentration of urobilinogen in the urine.'),('HP:0031891','Decreased eosinophil count','Abnormal reduction in the count of eosinophils in the blood per volume.'),('HP:0031898','Rouleaux formation','Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.'),('HP:0031899','Abnormal coagulation factor V activity','Any deviation from the activity of coagulation factor V.'),('HP:0031900','Abnormal serum mast cell beta-tryptase concentration','Any deviation from the normal circulating concentration of mast cell beta-tryptase concentration.'),('HP:0031901','Increased serum mast cell beta-tryptase concentration','An abnormally elevated circulating concentration of mast cell beta-tryptase concentration.'),('HP:0031902','Decreased serum mast cell beta-tryptase concentration','An abnormally reduced circulating concentration of mast cell beta-tryptase concentration.'),('HP:0031903','Abnormal circulating selenium concentration','Any deviation from the normal circulating concentration of selenium.'),('HP:0031904','Abnormal total hemolytic complement activity','Any deviation from the normal total hemolytic complement activity in the circulation.'),('HP:0031905','Increased total hemolytic complement activity','An abnormally elevated total hemolytic complement activity in the circulation.'),('HP:0031906','Decreased total hemolytic complement activity','An abnormally reduced total hemolytic complement activity in the circulation.'),('HP:0031907','Anti-mitochondrial M2 antibody positivity','The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.'),('HP:0031908','Micrographia','Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.'),('HP:0031909','Unicornuate uterus','A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.'),('HP:0031910','Abnormal cranial nerve physiology','A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.'),('HP:0031911','Abnormal fifth cranial nerve physiology',''),('HP:0031912','Trigeminal anesthesia','Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.'),('HP:0031913','Rhombencephalosynapsis','Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.'),('HP:0031914','Fluctuating','Varying irregularly over time in severity, amount, or amplitude.'),('HP:0031915','Stable','This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.'),('HP:0031917','Digital ulcer','An open sore on the surface of the skin of a finger or toe.'),('HP:0031918','Ovarian sex cord-stromal tumor','A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.'),('HP:0031919','Juvenile type ovarian granulosa cell tumor','Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.'),('HP:0031920','Malignant ovarian granulosa cell tumor','An aggressive granulosa cell tumor that arises from the ovary.'),('HP:0031921','Gastrocnemius myalgia','Pain of the gastrocnemius muscle.'),('HP:0031922','Renal artery duplication','The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.'),('HP:0031923','Hematocolpos','Accumulation of blood in the vagina usually due to vaginal obstruction.'),('HP:0031924','Rope sign','The presence of linear erythematous palpable cords, often on the lateral trunk.'),('HP:0031925','Rosette','A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.'),('HP:0031926','Homer Wright rosette','A type of rosette in which the central lumen or hub is filled with fiber-like processes.'),('HP:0031927','Flexner-Wintersteiner rosette','The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.'),('HP:0031928','True ependymal rosette','A type of rosette in which a halo of cells surrounds an empty lumen.'),('HP:0031929','Perivascular pseudorosette','A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.'),('HP:0031930','Neurocytic rosette','A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.'),('HP:0031931','Ocular flutter','Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.'),('HP:0031932','Aorto-left ventricular tunnel','Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity.'),('HP:0031933','Aorto-right ventricular tunnel','The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.'),('HP:0031934','Abnormal descending aorta morphology','A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.'),('HP:0031935','Ascending aorta hypoplasia','Significant luminal narrowing of a long segment of or the entire ascending aorta.'),('HP:0031936','Delayed ability to walk','A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.'),('HP:0031937','Tachylalia','Extreme rapidity of speech.'),('HP:0031938','Abnormal conus terminalis morphology','Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).'),('HP:0031939','Conus terminalis arteriovenous malformation',''),('HP:0031941','Abnormal portal venous system morphology','Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.'),('HP:0031942','Congenital absence of portal vein','Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.'),('HP:0031943','Akathisia','A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.'),('HP:0031944','Pleural thickening','An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.'),('HP:0031945','Elevated N,N-dimethylglycine level','An increased concentration of N,N-dimethylglycine in the circulation.'),('HP:0031946','Elevated urinary N,N-dimethylglycine level','An increased concentration of N,N-dimethylglycine in the urine.'),('HP:0031947','Tongue tremor','An unintentional, oscillating to-and-fro muscle movement affecting the tongue.'),('HP:0031948','Snowball lesion of corpus callosum','Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.'),('HP:0031949','Recurrent bacterial upper respiratory tract infections','An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).'),('HP:0031950','Usual interstitial pneumonia','Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.'),('HP:0031951','Nocturnal seizures','Seizures that occur while the affected individual is sleeping.'),('HP:0031952','Neurogenic claudication','Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.'),('HP:0031953','Cautious gait','Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient`s actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.'),('HP:0031954','Dystonic gait','Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.'),('HP:0031955','Antalgic gait','To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.'),('HP:0031956','Elevated serum aspartate aminotransferase','An abnormally high concentration in the circulation of aspartate aminotransferase (AST).'),('HP:0031957','Spastic hemiparetic gait','Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.'),('HP:0031958','Spastic paraparetic gait','A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.'),('HP:0031959','Leg dystonia','A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.'),('HP:0031960','Arm dystonia','A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.'),('HP:0031961','Abnormal serum anion gap','Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.'),('HP:0031962','Elevated serum anion gap','An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).'),('HP:0031963','Decreased serum anion gap','An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).'),('HP:0031964','Elevated serum alanine aminotransferase','An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.'),('HP:0031965','Increased RBC distribution width','Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.'),('HP:0031967','Cloudy urine','The appearance of the urine having visible material in suspension, i.e., appearing cloudy.'),('HP:0031969','Reduced blood urea nitrogen','An abnormally low concentration of urea nitrogen in the blood.'),('HP:0031970','Abnormal blood urea nitrogen concentration','Any deviation from the normal concentration of urea nitrogen in the blood.'),('HP:0031971','Subaortic ventricular septal bulge','A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.'),('HP:0031972','Presyncope','Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.'),('HP:0031973','Increased vertical cup-to-disc ratio','An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.'),('HP:0031974','Increased vertical cup-to-disc ratio - 0.6','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).'),('HP:0031975','Increased vertical cup-to-disc ratio - 0.7','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).'),('HP:0031976','Increased vertical cup-to-disc ratio - 0.8','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).'),('HP:0031977','Increased vertical cup-to-disc ratio - 0.9','Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).'),('HP:0031978','Increased vertical cup-to-disc ratio - 1.0','Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).'),('HP:0031979','Abnormal urine carbohydrate level','Any deviation from the normal concentration of a carbohydrate in the urine.'),('HP:0031980','Abnormal urine carboxylic acid level','Any deviation from the normal concentration of a carboxylic acid in the urine.'),('HP:0031981','Elevated urine glycolate','An increased concentration of glycolate in the urine.'),('HP:0031982','Abnormal putamen morphology','Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.'),('HP:0031983','Abnormal pulmonary thoracic imaging finding','This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.'),('HP:0031984','Esophageal food impaction','A piece of food that has gotten stuck in the esophagus and prevents further swallowing.'),('HP:0031985','Esophageal exudate','An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.'),('HP:0031986','Polyminimyoclonus','Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.'),('HP:0031987','Diminished ability to concentrate','Being unable to focus one`s attention or mental effort on a particular object or activity.'),('HP:0031988','obsolete Muscle spasm',''),('HP:0031989','Perioral spasm','A sudden involuntary contraction of the musculature surrounding the mouth.'),('HP:0031990','Chvostek sign','A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.'),('HP:0031991','Increased urinary excretion of galactosyl hydroxylysine','An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.'),('HP:0031992','Apical hypertrophic cardiomyopathy','Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.'),('HP:0031993','Hoffmann sign','A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner`s hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.'),('HP:0031994','Bronchial breath sound','Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.'),('HP:0031995','Squawks','Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.'),('HP:0031996','Inspiratory crackles','Crackles that are heard during the inspiratory phase.'),('HP:0031997','Early inspiratory crackles','Crackles that appear at the beginning of inspiration and end before mid-inspiration.'),('HP:0031998','Late inspiratory crackles','Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.'),('HP:0031999','Expiratory crackles','Crackles that occur during expiration.'),('HP:0032000','Pleural rub','An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles'),('HP:0032001','Pink urine','An abnormal pink color of urine.'),('HP:0032002','Orange urine','An abnormal orange color of urine.'),('HP:0032003','Green urine','An abnormal green color of urine.'),('HP:0032004','Pruritus vulvae','A sensation of itching in the vulvar region.'),('HP:0032005','Hemidystonia','Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.'),('HP:0032006','Lip tremor','An unintentional, oscillating to-and-fro muscle movement affecting the lip.'),('HP:0032007','Maceration','A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.'),('HP:0032008','Pulmonary fat embolism','The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.'),('HP:0032009','Infantile constant exotropia','Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.'),('HP:0032010','Basic constant exotropia','Constant exotropia for near and distance, presenting after 6 months of age.'),('HP:0032011','Heterophoria','Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.'),('HP:0032012','Heterotropia','Manifest deviation of the visual axes not controlled by fusion.'),('HP:0032013','Hypermetric horizontal saccades','Overshoot of horizontal (sideways) saccadic eye movements.'),('HP:0032014','Dysmetric vertical saccades','Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.'),('HP:0032015','Dysmetric horizontal saccades','Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.'),('HP:0032016','Abnormal sputum','Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.'),('HP:0032017','Sputum eosinophilia','An increased proportion of eosinophils in sputum in the differentiated cell count.'),('HP:0032018','Multiple mononeuropathy','A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.'),('HP:0032019','Muscle eosinophilia','Eosinophil infiltration of skeletal muscle.'),('HP:0032020','Eosinophilic bladder infiltration','Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.'),('HP:0032021','Eosinophilic liver infiltration','Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.'),('HP:0032022','Eosinophilic dermal infiltration','Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.'),('HP:0032023','Eosinophilic gallbladder infiltration','Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.'),('HP:0032024','Ileal ulcer','An erosion of the mucous membrane in a portion of the ileum.'),('HP:0032025','Reduced serum alpha-1-antitrypsin','A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.'),('HP:0032026','Anetoderma','Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.'),('HP:0032027','Retinal dots','Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.'),('HP:0032028','Macular dots','Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.'),('HP:0032029','Floppy eyelid','Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.'),('HP:0032030','Lateral canthal tendon laxity','Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.'),('HP:0032031','Medial canthal tendon laxity','Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.'),('HP:0032032','Horizontal eyelid laxity','Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.'),('HP:0032033','Vertical eyelid laxity','Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.'),('HP:0032034','Upper eyelid laxity','Abnormally lax upper eyelid associated with tissue relaxation.'),('HP:0032035','Lower eyelid laxity','Abnormally lax lower eyelid associated with tissue relaxation.'),('HP:0032036','Abnormal contrast sensitivity','An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.'),('HP:0032037','Mildly reduced visual acuity','Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).'),('HP:0032039','Abnormality of the ocular adnexa','An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.'),('HP:0032040','Abnormal ocular adnexa physiology','A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.'),('HP:0032041','Vocal cord polyp','A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.'),('HP:0032043','Odynophagia','Pain experienced with swallowing.'),('HP:0032044','Decreased vigilance','A reduction in the ability to maintain sustained attention characterized by reduced alertness.'),('HP:0032045','Hypoplastic carotid canal','Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.'),('HP:0032046','Focal cortical dysplasia','A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.'),('HP:0032047','Focal cortical dysplasia type I','A type of focal cortical dysplasia that is characterized by abnormal cortical layering.'),('HP:0032048','Focal cortical dysplasia type Ia','A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.'),('HP:0032049','Focal cortical dysplasia type Ib','A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.'),('HP:0032050','Focal cortical dysplasia type Ic','A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.'),('HP:0032051','Focal cortical dysplasia type II','A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.'),('HP:0032052','Focal cortical dysplasia type IIa','A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.'),('HP:0032053','Focal cortical dysplasia type IIb','A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.'),('HP:0032054','Focal cortical dysplasia type III','A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.'),('HP:0032055','Focal cortical dysplasia type IIIa','A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon`s horn sclerosis).'),('HP:0032056','Focal cortical dysplasia type IIIb','A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.'),('HP:0032057','Focal cortical dysplasia type IIIc','A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).'),('HP:0032058','Focal cortical dysplasia type IIId','A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.'),('HP:0032059','Mild malformation of cortical development','A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.'),('HP:0032060','Epithelioid hemangioma','A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.'),('HP:0032061','Hypereosinophilia','A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter).'),('HP:0032062','Mallory-Weiss tear','Vomiting-induced mucosal laceration at the esophago-gastric junction.'),('HP:0032063','Ankle joint effusion','Abnormal accumulation of fluid in or around the ankle joint.'),('HP:0032064','Gastrointestinal eosinophilia','Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.'),('HP:0032065','Abnormal serum bicarbonate concentration','Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.'),('HP:0032066','Decreased serum bicarbonate concentration','An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.'),('HP:0032067','Elevated serum bicarbonate concentration','An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.'),('HP:0032068','Increased urinary mucus','An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.'),('HP:0032069','Anti-thyroglobulin antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.'),('HP:0032070','Leptomeningeal enhancement','Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.'),('HP:0032071','Pulmonary eosinophilic infiltration','The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.'),('HP:0032072','Popliteal synovial cyst','A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.'),('HP:0032073','Aplasia of the fallopian tube','Aplasia, that is failure to develop, of the fallopian tube.'),('HP:0032075','Splenopancreatic fusion','Fusion of the pancreatic tail and spleen.'),('HP:0032076','Abnormal male urethral meatus morphology',''),('HP:0032077','Male urethral meatus stenosis','An abnormal narrowing of the urethral opening (meatus) of the penis.'),('HP:0032078','Angel-shaped phalanx','A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).'),('HP:0032079','Medial degeneration','Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.'),('HP:0032081','Intralamellar mucoid extracellular matrix accumulation','A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.'),('HP:0032082','Translamellar mucoid extracellular matrix accumulation','A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.'),('HP:0032083','Aortic elastic fiber fragmentation','Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.'),('HP:0032084','Aortic elastic fiber thinning','A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.'),('HP:0032085','Aortic elastic fiber disorganization','Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.'),('HP:0032086','Aortic smooth muscle cell nuclei loss','A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.'),('HP:0032087','Aortic laminar medial collapse','Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.'),('HP:0032088','Aortic smooth muscle cell disorganization','Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.'),('HP:0032089','Aortic medial fibrosis','An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).'),('HP:0032090','Intralamellar aortic medial fibrosis','A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.'),('HP:0032091','Translamellar aortic medial fibrosis','A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.'),('HP:0032092','Left ventricular outflow tract obstruction','Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.'),('HP:0032094','Increased circulating surfactant protein level','An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.'),('HP:0032096','Abnormal manganese concentration','A deviation from the normal range of manganese in the blood circulation.'),('HP:0032097','Hypermanganesemia','An elevation above the normal concentration of manganese in the blood.'),('HP:0032098','Hypomanganesemia',''),('HP:0032099','Perioral radial furrowing','The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).'),('HP:0032100','Abnormal doll`s eye reflex','The doll`s eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.'),('HP:0032101','Unusual infection','A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.'),('HP:0032102','Wilson sign','Wilson sign is defined as the elicitation of pain by internally rotating the patient`s tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.'),('HP:0032104','Saccadic oscillation','An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.'),('HP:0032105','Macrosaccadic oscillations','A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.'),('HP:0032106','Conjunctival icterus','Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.'),('HP:0032107','Limbal stem cell deficiency','A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.'),('HP:0032108','Mildly reduced contrast sensitivity','A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.'),('HP:0032109','Moderately reduced contrast sensitivity','A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.'),('HP:0032110','Severely reduced contrast sensitivity','A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.'),('HP:0032111','Abnormal Vistech contrast sensitivity test','An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.'),('HP:0032112','Abnormal Pelli Robson contrast sensitivity chart test','An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.'),('HP:0032113','Semidominant mode of inheritance','A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected.'),('HP:0032114','Saccadic intrusion','An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.'),('HP:0032116','Macrosquare-wave jerks','Horizontal 10-40 degree excursions from fixation and back again.'),('HP:0032117','obsolete Macrosaccadic oscillation',''),('HP:0032118','Retinitis','Inflammation of the retina of the eye.'),('HP:0032119','Narrow angle glaucoma','A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.'),('HP:0032120','Abnormal peripheral nervous system physiology','Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.'),('HP:0032121','Froment sign','An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.'),('HP:0032122','Very low visual acuity','A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).'),('HP:0032123','Ultra-low vision','Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).'),('HP:0032124','Abnormal proportion of unswitched memory B cells','A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.'),('HP:0032125','Increased proportion of unswitched memory B cells','An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.'),('HP:0032126','Decreased proportion of unswitched memory B cells','A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.'),('HP:0032127','Abnormal plasmablast proportion','A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.'),('HP:0032128','Increased proportion of plasmablasts','An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.'),('HP:0032129','Decreased proportion of plasmablasts','A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.'),('HP:0032130','Mycobacterium abscessus abscessus infection','Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.'),('HP:0032131','Cervical dysplasia','Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.'),('HP:0032132','Decreased circulating total IgG','A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.'),('HP:0032133','Transient decreased circulating total IgG','A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.'),('HP:0032134','Chronic decreased circulating total IgG','A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.'),('HP:0032135','Decreased circulating IgG subclass level','A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.'),('HP:0032136','Decreased circulating IgG1 level','A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.'),('HP:0032137','Decreased circulating IgG3 level','A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.'),('HP:0032138','Decreased circulating IgG4 level','A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.'),('HP:0032139','Reduced isohemagglutinin level','Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).'),('HP:0032140','Decreased specific antibody response to vaccination','A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0032141','Precordial pain','A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.'),('HP:0032142','Fetor hepaticus','Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.'),('HP:0032143','Burning mouth','An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.'),('HP:0032144','Coffee ground vomitus','Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.'),('HP:0032145','Sural nerve atrophy','Wasting of the sural nerve, a sensory nerve in the calf region of the leg.'),('HP:0032146','HbC hemoglobin','Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.'),('HP:0032147','Erythromelalgia','Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.'),('HP:0032148','Episodic pain','Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.'),('HP:0032149','Breakthrough pain','A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.'),('HP:0032150','Paroxysmal rectal pain','Excruciating burning pain in the rectal area that may be triggered by defecation.'),('HP:0032151','Episodic eosinophilia','Recurrent episodes of marked eosinophilia that resolve spontaneously.'),('HP:0032152','Keratosis pilaris','An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.'),('HP:0032153','Joint subluxation','A partial dislocation of a joint.'),('HP:0032154','Aphthous ulcer','Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.'),('HP:0032155','Abdominal cramps','A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.'),('HP:0032156','Skin detachment','Loss of sections of skin either spontaneously or after gentle handling.'),('HP:0032157','Recurrent genital herpes','Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.'),('HP:0032158','Unusual infection by anatomical site','An unusual infection classified by the affected body part.'),('HP:0032159','Fungal meningitis','An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.'),('HP:0032160','Cryptococcal meningitis','A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.'),('HP:0032161','Coccidioidal meningitis','A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.'),('HP:0032162','Unusual skin infection','A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.'),('HP:0032163','Molluscum contagiosum','Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.'),('HP:0032164','Increased blood folate concentration',''),('HP:0032165','Placental mesenchymal dysplasia','Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees.'),('HP:0032166','Unusual gastrointestinal infection',''),('HP:0032167','Clostridium difficile enteritis','An infection of the small intestine (enteritis) by clostridium difficile.'),('HP:0032168','Clostridium difficile colitis','An infection of the colon (colitis) by clostridium difficile.'),('HP:0032169','Severe infection','A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.'),('HP:0032170','Severe varicella zoster infection','An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.'),('HP:0032171','Bladder pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.'),('HP:0032172','Air crescent sign','A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.'),('HP:0032173','Continuous diaphragm sign','This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.'),('HP:0032174','Tree-in-bud pattern','The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).'),('HP:0032175','Signet ring sign','This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.'),('HP:0032176','Apical pulmonary opacity','An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.'),('HP:0032177','Parenchymal consolidation','Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).'),('HP:0032178','Flaky paint dermatosis','A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).'),('HP:0032179','Abnormal circulating globulin level','An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.'),('HP:0032180','Abnormal circulating metabolite concentration','An abnormal level of an analyte measured in the blood.'),('HP:0032181','Anomalous hepatic venous drainage into the left atrium','An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.'),('HP:0032182','Abnormal proportion of memory T cells','An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.'),('HP:0032183','Decreased proportion of memory T cells','An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.'),('HP:0032184','Increased proportion of memory T cells','An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.'),('HP:0032185','Disseminated molluscum contagiosum','The presense of molluscum contagiosum lesions across multiple areas of the body.'),('HP:0032186','Anal neoplasm','A benign or malignant neoplasm that affects the anal canal or anal margin.'),('HP:0032187','Anal intraepithelial neoplasia','Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.'),('HP:0032188','Cellular hypersensitivity to mitomycin C','An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.'),('HP:0032189','Cellular hypersensitivity to diepoxybutane','An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.'),('HP:0032190','Abnormal meniscus morphology','Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.'),('HP:0032191','Torn meniscus','A tear in the cartilaginous pad (meniscus) of the knee.'),('HP:0032192','Hydatidiform mole','Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.'),('HP:0032193','Decreased low-density lipoprotein particle size','An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.'),('HP:0032195','Abnormal S wave','Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.'),('HP:0032196','Prominent S wave in lead I','Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.'),('HP:0032197','Deep S wave in lead V5','Abnormal depth of the S wave in lead V5 of the electrocardiogram.'),('HP:0032198','Decreased prothrombin time','Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient`s prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.'),('HP:0032199','Abnormal prothrombin time','Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient`s prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.'),('HP:0032200','Perivascular fibrosis','The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.'),('HP:0032201','Rotator cuff tear','The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.'),('HP:0032202','Vulvar intraepithelial neoplasia','Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.'),('HP:0032203','Lymphoid nodular hyperplasia','Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).'),('HP:0032204','Chronic active Epstein-Barr virus infection','Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.'),('HP:0032205','Increased circulating galectin-3 level','Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling.'),('HP:0032207','Abnormal cerebrospinal fluid metabolite concentration','Any deviation from the normal concentration of a metabolite in cerebrospinal fluid.'),('HP:0032208','Increased urinary type 1 collagen N-terminal telopeptide level','An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.'),('HP:0032209','Abnormal circulating free T3 concentration','A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.'),('HP:0032210','Decreased circulating free T3','A reduced concentration of free 3,3`,5-triiodo-L-thyronine in the blood circulation.'),('HP:0032211','Increased urinary epithelial cell count','An increased number of epithelial cells per high-power field in urinanalysis.'),('HP:0032212','Increased urinary squamous epithelial cell count','An increased number of squamous epithelial cells per high-power field in urinanalysis.'),('HP:0032213','Increased urinary renal tubular epithelial cell count','An increased number of renal tubular epithelial cells per high-power field in urinanalysis.'),('HP:0032214','Increased urinary transitional epithelial cell count','An increased number of transitional epithelial cells per high-power field in urinanalysis.'),('HP:0032215','Disseminated cutaneous warts','Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.'),('HP:0032216','Lymphocytic infiltration of the colorectal mucosa','Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.'),('HP:0032217','Indurated nodule','A skin nodule that is unusually hard (indurated).'),('HP:0032218','Decreased proportion of CD4-positive T cells','A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.'),('HP:0032219','Increased proportion of CD4-positive T cells','An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.'),('HP:0032220','Interface hepatitis','Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.'),('HP:0032221','Periportal emperipolesis','The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.'),('HP:0032222','Serrated intestinal polyps','The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.'),('HP:0032223','Blood group','Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.'),('HP:0032224','ABO blood group','The ABO system consists of A and B antigens and antibodies against these antigens.'),('HP:0032225','Perifollicular fibroma','Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.'),('HP:0032226','Abnormal sebaceous gland morphology','Any structural anomaly of the sebaceous glands.'),('HP:0032227','Sebaceous hyperplasia','A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.'),('HP:0032228','Trichodiscoma','A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.'),('HP:0032229','Perinuclear antineutrophil antibody positivity','The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.'),('HP:0032230','Cytoplasmic antineutrophil antibody positivity','The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.'),('HP:0032231','Hypochromia','A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.'),('HP:0032232','Increased circulating creatine kinase MB isoform','An increased concentration of the MB isoform of creatine kinase in the blood circulation.'),('HP:0032233','Increased circulating creatine kinase BB isoform','An increased concentration of the BB isoform of creatine kinase in the blood circulation.'),('HP:0032234','Increased circulating creatine kinase MM isoform','An increased concentration of the MM isoform of creatine kinase in the blood circulation.'),('HP:0032235','Anti-La/SSA antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the La/Sjogrens syndrome antigen.'),('HP:0032236','Increased circulating immature neutrophil count','An abnormally increased number of immature neutrophils in the peripheral blood circulation.'),('HP:0032237','Increased circulating myelocyte count','An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.'),('HP:0032238','Increased circulating metamyelocyte count','An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.'),('HP:0032239','Increased circulating band cell count','An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2.'),('HP:0032240','Elevated circulating E selectin level','An increased concentration of E selectin in the blood circulation.'),('HP:0032241','Cervical neoplasm','A tumor (abnormal growth of tissue) of the uterine cervix.'),('HP:0032242','Cervical intraepithelial neoplasia','A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.'),('HP:0032243','Abnormal tissue metabolite concentration','Any deviation from the normal concentration of a metabolite in a tissue.'),('HP:0032244','Decreased serum thromboxane B2','A reduction in the concentration of thromboxane B2 in the blood circulation.'),('HP:0032245','Abnormal metabolism','An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.'),('HP:0032247','Persistent CMV viremia','Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.'),('HP:0032248','Persistent viremia','Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.'),('HP:0032249','Coccidioidomycosis','Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.'),('HP:0032250','Acinetobacter infection','An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.'),('HP:0032251','Abnormal immune system morphology',''),('HP:0032252','Granuloma','A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.'),('HP:0032253','Eosinophilic granuloma','A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.'),('HP:0032254','Increased circulating copper concentration','An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.'),('HP:0032255','Opportunistic fungal infection','An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.'),('HP:0032256','Histoplasmosis','Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.'),('HP:0032257','Disseminated histoplasmosis','Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.'),('HP:0032258','Pulmonary histoplasmosis','Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.'),('HP:0032259','Chronic tinea infection','The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.'),('HP:0032260','Opportunistic bacterial infection','An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.'),('HP:0032261','Nontuberculous mycobacterial pulmonary infection','An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.'),('HP:0032262','Pulmonary tuberculosis','A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.'),('HP:0032263','Increased blood pressure','Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.'),('HP:0032264','Anti-NMDA receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.'),('HP:0032265','CSF autoimmune antibody positivity','The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism`s own cells or tissues.'),('HP:0032266','CSF anti-NMDA receptor antibody positivity','The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.'),('HP:0032267','Empty delta sign','This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.'),('HP:0032268','Dural tail sign','This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.'),('HP:0032269','Lemon sign',''),('HP:0032270','Optic nerve tram-track sign','A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.'),('HP:0032271','Extrapulmonary tuberculosis','A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.'),('HP:0032272','Elevated urinary N-acetylaspartic acid level','Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.'),('HP:0032273','Increased circulating N-Acetylaspartic acid concentration','An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation.'),('HP:0032274','Increased CSF N-Acetylaspartic acid concentration','An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF).'),('HP:0032275','Recurrent shingles','Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.'),('HP:0032276','Prominent subcalcaneal fat pad','Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.'),('HP:0032277','Lozenge-shaped umbilicus',''),('HP:0032278','2-hydroxyglutarate aciduria','An increase in the level of 2-hydroxyglutaric acid in the urine.'),('HP:0032281','Abnormal base excess','Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).'),('HP:0032282','Contact dermatitis','An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.'),('HP:0032283','Disseminated nontuberculous mycobacterial infection','An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.'),('HP:0032284','Ultra-low vision with retained motion projection','Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).'),('HP:0032285','Ultra-low vision with retained light projection','Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.'),('HP:0032286','Ultra-low vision with retained light perception','Ultra-low vision but with retained ability to perceive the difference between light and dark.'),('HP:0032287','Ultra-low vision with no light perception','Ultra-low vision with complete lack of light and form perception.'),('HP:0032288','Polyclonal elevation of circulating IgG','An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.'),('HP:0032289','Oligoclonal elevation of circulating IgG','An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032290','Monoclonal elevation of IgG','An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032291','Monoclonal elevation of intact IgG','A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.'),('HP:0032292','Monoclonal elevation of IgG light chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.'),('HP:0032293','Monoclonal elevation of IgG heavy chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.'),('HP:0032294','Monoclonal elevation of IgG kappa chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.'),('HP:0032295','Monoclonal elevation of IgG lambda chain','A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.'),('HP:0032296','Increased circulating IgG subclass','An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.'),('HP:0032297','Increased circulating IgG3 level','An abnormally increased concentration of the IgG3 subtype in the blood circulation.'),('HP:0032298','Increased circulating IgG1 level','An abnormally increased concentration of the IgG1 subtype in the blood circulation.'),('HP:0032299','Increased circulating IgG2 level','An abnormally increased concentration of the IgG2 subtype in the blood circulation.'),('HP:0032300','Increased circulating IgG4 level','An abnormally increased concentration of the IgG4 subtype in the blood circulation.'),('HP:0032301','Genital warts','Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.'),('HP:0032302','Kappa Bence Jones proteinuria','The presence of free monoclonal kappa immunoglobulin light chains in the urine.'),('HP:0032303','Lambda Bence Jones proteinuria','The presence of free monoclonal lambda immunoglobulin light chains in the urine.'),('HP:0032304','Abnormal mannose-binding protein level','Any deviation from the normal concentration of mannose-binding protein in the blood circulation.'),('HP:0032305','Decreased mannose-binding protein level','An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation.'),('HP:0032306','Increased mannose-binding protein level','An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation.'),('HP:0032308','Increased circulating procalcitonin level','An elevated concentration of procalcitonin in the blood circulation.'),('HP:0032309','Abnormal granulocyte count','Any deviation from the normal cell count per volume of granulocytes in the blood circulation.'),('HP:0032310','Granulocytosis','An increased count of granulocytes in the peripheral blood circulation.'),('HP:0032311','Increased circulating globulin level','An abnormally elevated concentration of globulins in the blood.'),('HP:0032312','Decreased circulating globulin level','An abnormally reduced concentration of globulins in the blood.'),('HP:0032313','Frontotemporal hypertrichosis','Excessive, increased hair growth located in the region of the forehead and temple.'),('HP:0032314','Abnormal areolar morphology','An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.'),('HP:0032315','Areolar fullness','The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.'),('HP:0032316','Family history','Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.'),('HP:0032317','Family history of cancer','A close blood relative had cancer.'),('HP:0032318','Family history of heart disease','A close blood relative had heart disease.'),('HP:0032319','Health status','Health status of a family member with respect to the disease being investigated in a proband.'),('HP:0032320','Affected','This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).'),('HP:0032321','Unaffected','This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.'),('HP:0032322','Healthy','No history of any serious disease, including the disease being investigated in the proband.'),('HP:0032323','Periodic fever','Episodic fever that recurs at regular intervals.'),('HP:0032324','Non-periodic recurrent fever','Episodic fever that recurs at irregular intervals.'),('HP:0032325','Lacunar stroke','A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.'),('HP:0032326','Methicillin-resistant Staphylococcus aureus infection','Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.'),('HP:0032327','Interhemispheric cyst','Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.'),('HP:0032328','Temporomandibular joint adhesion','Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.'),('HP:0032329','Increased urinary 11-deoxycortisol level','An abnormally elevated concentration of 11-deoxycortisol in the urine.'),('HP:0032330','Increased urinary 11-deoxycorticosterone level','An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.'),('HP:0032331','Increased urinary 11-deoxytetrahydrocorticosterone level','An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.'),('HP:0032332','Oligoclonal elevation of circulating IgM','An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.'),('HP:0032333','Polyclonal elevation of circulating IgA','A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.'),('HP:0032334','Oligoclonal elevation of circulating IgA','An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032335','Monoclonal elevation of circulating IgA','An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032336','Increased circulating specific IgE antibody',''),('HP:0032337','Monoclonal elevation of circulating IgE','An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032338','Oligoclonal elevation of circulating IgE','An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.'),('HP:0032339','Polyclonal elevation of circulating IgE','A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.'),('HP:0032340','Abnormal spirometry test','An abnormal spirometry test result. In this test, the individual being tested exhales into a tube connected to a machine called a spirometer, which measures the volume of air expired against time. Patients are asked to take a maximal inspiration and then to forcefully expel air for as long and as quickly as possible.'),('HP:0032341','Reduced forced vital capacity','An abnormal reduction in the amount of air a person can expel following maximal insipiration.'),('HP:0032342','Reduced forced expiratory volume in one second',''),('HP:0032344','Upslanting toenail','Upturned concavity of toenails.'),('HP:0032345','Elevated cancer Ag 19-9 level','An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.'),('HP:0032346','Cutaneous lichen amyloidosis','Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.'),('HP:0032347','Cutaneous macular amyloidosis','A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern.'),('HP:0032348','Cutaneous nodular amyloidosis','A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.'),('HP:0032349','Serinuria','A increased concentration of serine in the urine.'),('HP:0032350','Sulfocysteinuria','A increased concentration of sulfocysteine in the urine.'),('HP:0032351','Phenylalaninuria','Increased level of phenylalanine in urine.'),('HP:0032352','Methioninuria','Increased level of methionine in urine.'),('HP:0032353','Leucinuria','Increased level of leucine in urine.'),('HP:0032355','Decreased peak expiratory flow','A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.'),('HP:0032356','Decreased pre-bronchodilator forced vital capacity','An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.'),('HP:0032357','Decreased post-bronchodilator forced vital capacity','An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.'),('HP:0032358','Decreased post-bronchodilator forced expiratory volume in one second','An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.'),('HP:0032359','Decreased forced expiratory flow 25-75%','A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.'),('HP:0032360','Decreased pre-bronchodilator forced expiratory flow 25-75%','A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.'),('HP:0032361','Decreased post-bronchodilator forced expiratory flow 25-75%','A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.'),('HP:0032362','Increased circulating corticosterone level','An abnormally elevated concentration of corticosterone in the blood.'),('HP:0032363','Decreased circulating corticosterone level','An abnormally reduced concentration of corticosterone in the blood.'),('HP:0032364','obsolete Abnormal CSF amino acid level',''),('HP:0032365','Exacerbated by aspirin ingestion','Applied to a sign or symptom that is worsened by ingestion of aspirin.'),('HP:0032366','Positive direct antiglobulin test','A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.'),('HP:0032367','Abnormal growth hormone level','Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.'),('HP:0032368','Acidemia','An abnormally low blood pH (usually defined as less than 7.35).'),('HP:0032369','Alkalemia','An abnormally high blood pH (usually defined as 7.41 or above).'),('HP:0032370','Blood group A','ABO phenotype A, corresponding to the genotype AO or AA.'),('HP:0032371','Isoleucinuria','An increased concentration of isoleucine in the urine.'),('HP:0032372','Increased peripheral blast count','An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.'),('HP:0032373','Duffy blood group','The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.'),('HP:0032374','Duffy Fya positivity','Presence of the Duffy Fya antigen.'),('HP:0032375','Duffy Fyb positivity','Presence of the Duffy Fyb antigen.'),('HP:0032376','Anti-beta 2 glycoprotein I antibody positivity','Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).'),('HP:0032377','Increased urinary orosomucoid','An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.'),('HP:0032378','Immediate-type hypersensitivity drug reaction','Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.'),('HP:0032379','Polymorphous light eruption','The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.'),('HP:0032381','Hydroa vacciniforme','In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.'),('HP:0032382','Uniparental disomy','Inheritance of both homologues of a chromosome pair from the same parent.'),('HP:0032383','Uniparental heterodisomy','A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.'),('HP:0032384','Uniparental isodisomy','A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.'),('HP:0032385','Abnormal circulating transferrin level','Any deviation from the normal concentration of transferrin in the blood circulation.'),('HP:0032386','Elevated transferrin level','An abnormally increased concentration of transferrin in the blood circulation.'),('HP:0032387','Reduced transferrin level','An abnormally decreased concentration of transferrin in the blood circulation.'),('HP:0032388','Periventricular nodular heterotopia','Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.'),('HP:0032389','Periventricular laminar heterotopia','A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.'),('HP:0032390','Periventricular ribbonlike heterotopia','Heterotopia that forms a continuous wavy line along the ventricular wall.'),('HP:0032391','Subcortical heterotopia','A form of heterotopia were the mislocalized gray matter is located deep within the white matter.'),('HP:0032392','Nodular subcortical heterotopia in peritrigonal regions','Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.'),('HP:0032393','Diffuse ribbon-like subcortical heterotopia','Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.'),('HP:0032394','Mesial parasagittal subcortical heterotopia','Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.'),('HP:0032395','Curvilinear subcortical heterotopia','Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.'),('HP:0032396','Transmantle columnar heterotopia','Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.'),('HP:0032397','Citrullinuria','An increased concentration of citrulline in the urine.'),('HP:0032398','Dysgyria','An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.'),('HP:0032399','Dysgyria with normal cortical thickness','An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.'),('HP:0032400','Dysgyria with thickened cortex','An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.'),('HP:0032401','Aspartic aciduria','A increased concentration of aspartic acid in the urine.'),('HP:0032403','Asparaginuria','An increased concentration of asparagine in the urine.'),('HP:0032404','Testicular mass','An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.'),('HP:0032405','Increased urinary phosphoserine level','An increased level of phosphoserine in the urine.'),('HP:0032406','Unilateral perisylvian polymicrogyria','A type of perisylvian polymicrogyria that largely affects one side of the brain.'),('HP:0032407','Bilateral perisylvian polymicrogyria','A type of perisylvian polymicrogyria that affects both sides of the brain.'),('HP:0032408','Breast mass','A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.'),('HP:0032409','Subcortical band heterotopia','A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.'),('HP:0032410','Bilateral generalized polymicrogyria','Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.'),('HP:0032411','Posterior predominant subcortical band heterotopia','Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.'),('HP:0032412','Anterior predominant subcortical band heterotopia','Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.'),('HP:0032413','Diffuse subcortical band heterotopia','Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.'),('HP:0032414','Hydrixylysinuria','The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.'),('HP:0032415','Parasagittal parieto-occipital polymicrogyria','Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.'),('HP:0032416','Retinal microaneurysm','A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.'),('HP:0032417','Periglomerular fibrosis','Periglomerular fibrosis is defined as glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane.'),('HP:0032418','Abnormal HDL subfraction concentration','An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).'),('HP:0032419','Abnormal HDL2a concentration','Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.'),('HP:0032420','Increased HDL2a concentration','An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.'),('HP:0032421','Decreased HDL2a concentration','A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.'),('HP:0032422','Abnormal HDL2b concentration','Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm.'),('HP:0032423','Decreased HDL2b concentration','A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.'),('HP:0032424','Increased HDL2b concentration','An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.'),('HP:0032425','Abnormal HDL3a concentration','Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.'),('HP:0032426','Abnormal HDL3b concentration','Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.'),('HP:0032427','Abnormal HDL3c concentration','Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.'),('HP:0032428','Increased HDL3a concentration','An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.'),('HP:0032429','Decreased HDL3a concentration','A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.'),('HP:0032430','Increased HDL3b concentration','An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.'),('HP:0032431','Decreased HDL3b concentration','A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.'),('HP:0032432','Increased HDL3c concentration','An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.'),('HP:0032433','Decreased HDL3c concentration','A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.'),('HP:0032434','Delayed umbilical cord separation','Separation of the umbilical cord occurs at an abnormally late timepoint.'),('HP:0032435','Neonatal omphalitis','An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.'),('HP:0032436','Abnormal C-reactive protein level','Any deviation from the normal concentration of C-reactive protein in the blood circulation.'),('HP:0032437','Reduced C-reactive protein level','An abnormal decrease of the C-reactive protein level in serum.'),('HP:0032438','Platelet anisocytosis','Abnormally increased variability in the size of platelets.'),('HP:0032439','Airborn particle hypersensitivity','An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.'),('HP:0032440','Blood group B','ABO phenotype B, corresponding to the genotype BO or BB.'),('HP:0032441','Blood group AB','ABO phenotype AB, corresponding to the genotype AB.'),('HP:0032442','Blood group O','ABO phenotype O, corresponding to the genotype OO.'),('HP:0032443','Past medical history','In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient`s medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.'),('HP:0032444','Status post organ transplantation','The affected individual has received an organ transplant previous to the current medical encounter.'),('HP:0032445','Pulmonary cyst','A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.'),('HP:0032446','Pulmonary bulla','Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.'),('HP:0032447','Pulmonary bleb','A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.'),('HP:0032448','Achlorhydria','A condition in which production of hydrochloric acid in the stomach is absent.'),('HP:0032449','Abnormal dermoepidermal hemidesmosome morphology','An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.'),('HP:0032450','Positive blood arsenic test','Detection of arsenic in the blood circulation.'),('HP:0032451','Oral melanotic macule','Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.'),('HP:0032452','Oral melanoacanthoma','Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.'),('HP:0032453','Abnormal lip pigmentation','Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.'),('HP:0032454','Labial melanotic macule','Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.'),('HP:0032455','Reduced granulocyte CD18 level','Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.'),('HP:0032456','Unlayered lissencephaly','A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.'),('HP:0032457','2-3-layered lissencephaly','Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.'),('HP:0032458','Narrowing of medullary canal','A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.'),('HP:0032459','Abnormal phosphoribosylpyrophosphate synthetase level','Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.'),('HP:0032460','Decreased phosphoribosylpyrophosphate synthetase level','Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.'),('HP:0032461','obsolete Tiger-tail banding',''),('HP:0032462','Increased circulating palmitate level','An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.'),('HP:0032463','Reduced circulating fibronectin level','A reduction below the normal concentration of fibronectin the the blood circulation.'),('HP:0032464','Ureteral hypoplasia','Underdevelopment of the ureter.'),('HP:0032465','Bladder trabeculation','Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.'),('HP:0032466','Aplasia of the olfactory bulb','Lack of formation (congenital absence) of the olfactory bulb.'),('HP:0032467','Past obstetric history','Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.'),('HP:0032468','History of stillbirth','One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).'),('HP:0032469','Anti-asialoglycoprotein receptor antibody positivity','Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.'),('HP:0032470','Monilethrix','The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.'),('HP:0032471','Focal polymicrogyria','Polymicrogyria affecting one or multiple small areas of the cerebral cortex.'),('HP:0032472','Abnormal urine urobilinogen level','An abnormal concentration of urobilinogen in the urine.'),('HP:0032473','Decreased urine urobilinogen','An abnormally reduced concentration of urobilinogen in the urine.'),('HP:0032475','6-layered lissencephaly',''),('HP:0032476','Abnormal circulating vitamin B6 level','An abnormal concentration of vitamin B6 in the blood circulation.'),('HP:0032477','Elevated circulating vitamin B6 level','An abnormally increased concentration of vitamin B6 in the blood circulation.'),('HP:0032478','Lateral spinal meningocele','Protrusion of the arachnoid and dura through spinal foramina.'),('HP:0032479','Preimplantation lethality','It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual`s embryos are arrested at early stages of development.'),('HP:0032480','Beta-aminoisobutyric aciduria','An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.'),('HP:0032481','Abnormal pituitary glycoprotein hormone alpha subunit level','Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).'),('HP:0032482','Decreased pituitary glycoprotein hormone alpha subunit level','An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).'),('HP:0032483','Abnormal fecal test result','Abnormal level of metabolite or other abnormal analyte result in a stool test.'),('HP:0032484','Elevated fecal sodium','An elevated concentration of sodium in feces.'),('HP:0032485','Abnormal fecal osmolality','Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.'),('HP:0032486','Elevated fecal osmolality','Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.'),('HP:0032487','Reduced fecal osmolality','Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.'),('HP:0032488','Abnormal fecal pH','Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.'),('HP:0032489','Elevated fecal pH','Abnormally high fecal pH, i.e., abnormal alkalinity of feces.'),('HP:0032490','Decreased fecal pH','Abnormally low fecal pH, i.e., abnormal acidity of feces.'),('HP:0032491','Increased circulating argininosuccinic acid','An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.'),('HP:0032492','Anti-myelin oligodendrocyte glycoprotein antibody positivity','Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.'),('HP:0032493','Increased circulating trypsinogen','An abnormally high concentration of trypsinogen in the blood circulation.'),('HP:0032495','Abnormal terminal:vellus ratio','A deviation from the normal proportion of terminal to vellus hairs.'),('HP:0032496','Elevated terminal:vellus ratio','An increased proportion of terminal hairs compared to vellus hairs.'),('HP:0032497','Reduced terminal:vellus ratio','A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.'),('HP:0032499','Giant neutrophil granules','The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.'),('HP:0032500','Exacerbated by tobacco use','Applied to a sign or symptom that is worsened by smoking tobacco products.'),('HP:0032501','Exacerbated by contraceptive medication','Applied to a sign or symptom that is worsened by taking contraceptive medication.'),('HP:0032502','Exacerbated by barbiturate medication','Applied to a sign or symptom that is worsened by taking barbituates.'),('HP:0032503','Ameliorated by ethanol ingestion','Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).'),('HP:0032504','Lhermitte`s sign','An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.'),('HP:0032505','Hydrophobia','Pharyngeal spasms provoked by an attempt to drink.'),('HP:0032506','Alien limb phenomenon','Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.'),('HP:0032507','Labiomental fasciculations','Fasciculations affecting the tongue muscle and the musculature of the chin.'),('HP:0032508','Polyembolokoilamania','Habitual insertion of foreign bodies into bodily orifices.'),('HP:0032509','Onychotillomania','Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.'),('HP:0032510','Tendon pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.'),('HP:0032511','Superiorly positioned umbilicus',''),('HP:0032513','Four-vessel umbilical cord','Four-vessel umbilical cord containing two arteries and two veins.'),('HP:0032514','Duplicated lacrimal punctum','A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face.'),('HP:0032515','Deep dermatophytosis','A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.'),('HP:0032516','Invasive dermatophyte infection','Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.'),('HP:0032517','Majocchi`s granuloma','Majocchi`s granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.'),('HP:0032518','Disseminated dermatophytosis','A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.'),('HP:0032519','Increased Burr cell count','Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.'),('HP:0032520','Masseter muscular weakness','Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.'),('HP:0032521','Self hugging','Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.'),('HP:0032522','Ameliorated by immunosuppresion','Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.'),('HP:0032523','Tendon thickening','An abnormal increase in the thickness (diameter) of a tendon.'),('HP:0032524','Long thumb','Length of the thumb is greater than normal.'),('HP:0032525','Aggravated by acetylcholinesterase inhibitor','Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).'),('HP:0032526','Ameliorated by acetylcholinesterase inhibitor','Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.'),('HP:0032527','Inferiorly positioned umbilicus','The position of the umbilicus (belly button) is abnormally low (inferior).'),('HP:0032528','Elevated urinary 4-hydroxybutyric acid','An increased amount of 4-hydroxybutyric acid in the urine.'),('HP:0032529','Elevated circulating gamma-aminobutyric acid concentration','An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation.'),('HP:0032530','Decreased succinic semialdehyde dehydrogenase level','Reduced level of succinic semialdehyde dehydrogenase (SSADH).'),('HP:0032531','Elevated CSF gamma-aminobutyric acid concentration',''),('HP:0032532','Elevated CSF 4-hydroxybutyric acid concentration','Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).'),('HP:0032533','Elevated circulating acetone','An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.'),('HP:0032534','Exacerbated by methylxanthine ingestion','Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).'),('HP:0032535','Cervical (neck)','Applies to an abnormality that is situated in the neck.'),('HP:0032536','Increased number of lymph nodes','An abnormally elevated number of lymph nodes in an anatomical region.'),('HP:0032537','Delayed fracture healing','A delay in healing of a fracture past the expected duration.'),('HP:0032538','Pretibial dimple','A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.'),('HP:0032539','Joint extensor surface localization','Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint.'),('HP:0032540','Joint flexor surface localization','Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed).'),('HP:0032541','Knuckle pad','Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.'),('HP:0032542','Exacerbated by pregnancy','Applied to a sign or symptom that is worsened by being pregnant.'),('HP:0032543','Lithoptysis','Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.'),('HP:0032544','Predominant small joint localization','Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.'),('HP:0032545','Abdominal rigidity','Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.'),('HP:0032546','Abdominal guarding','A voluntary contraction of the abdominal wall musculature to avoid pain.'),('HP:0032547','Low intraocular pressure','An abnormal decrease of the pressure within the eye.'),('HP:0032548','Increased placental thickness','Abnormally elevated placental thickness.'),('HP:0032549','Persistent asymmetrical tonic neck reflex','Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.'),('HP:0032550','Howell-Jolly bodies','Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.'),('HP:0032551','Hemorrhoids','Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.'),('HP:0032552','Abnormal pulse','An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.'),('HP:0032553','Weak pulse','A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.'),('HP:0032554','Absent pulse','The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.'),('HP:0032555','Bounding pulse','Increased amplitude (strength) of the pulse.'),('HP:0032556','Circumoral cyanosis','Persistent blue color of the skin that surrounds the mouth.'),('HP:0032557','History of bone marrow transplant','A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.'),('HP:0032558','Absent sperm flagella','Sperm cells lacking flagella.'),('HP:0032559','Short sperm flagella','Sperm cells with abnormally short flagella.'),('HP:0032560','Coiled sperm flagella','Sperm cells whose flagella are twisted (coiled).'),('HP:0032561','Microcephalic sperm head','Decreased size of the head of sperm.'),('HP:0032562','Tapered sperm head','Sperm with cigar-shaped heads that gradually dimish in diameter (taper).'),('HP:0032563','Dacryocytosis','Presence of teardrop-shaped red blood cells.'),('HP:0032564','Ileitis','Inflammation of the ileum.'),('HP:0032565','Vaginal mucosal ulceration',''),('HP:0032566','Oval macrocytosis','Enlarged, oval-shaped erythrocytes (red blood cells).'),('HP:0032567','Lipiduria','An increased lipid content in the urine.'),('HP:0032568','Urinary mulberry cells','Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.'),('HP:0032569','Temporal bossing',''),('HP:0032570','Pontine ischemic lacunes','Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.'),('HP:0032571','Increased oocyte death','An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.'),('HP:0032572','Abnormal urinary nucleobase concentration',''),('HP:0032573','Elevated urinary cytidine','Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.'),('HP:0032574','Elevated uridine in urine','Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.'),('HP:0032575','Decreased circulating 12-HETE','A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.'),('HP:0032576','Intracellular accumulation of Dol-PP-GlcNAc2Man5','Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.'),('HP:0032577','Clonal T cell receptor rearrangement','Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.'),('HP:0032578','Third ventricle colloid cyst','An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.'),('HP:0032579','Vascular hamartoma','A benign focal growth composed of vascular tissue.'),('HP:0032580','Abnormal bulbus cordis morphology','Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.'),('HP:0032581','Abnormal renal insterstitial morphology','Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.'),('HP:0032582','Renal interstitial foam cells','Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.'),('HP:0032583','Renal glomerular foam cells',''),('HP:0032584','Renal interstitial neutrophil infiltration','Increased numbers of neutrophils in the interstitial tissues of the kidney.'),('HP:0032585','Renal interstitial eosinophil infiltration','Increased numbers of eosinophils in the interstitial tissues of the kidney.'),('HP:0032586','Renal interstitial plasma cell infiltration','Increased numbers of plasma cells in the interstitial tissues of the kidney.'),('HP:0032587','Renal interstitial calcium oxalate','The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.'),('HP:0032588','Hand apraxia','Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.'),('HP:0032589','Renal lymphocytic tubulitis','Infiltration of the renal tubular epithelium by lymphocytes.'),('HP:0032590','Renal neutrophilic tubulitis','Infiltration of the renal tubular epithelium by neutrophils.'),('HP:0032591','Renal interstitial hemosiderin','Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.'),('HP:0032592','Aplasia of the right hemidiaphragm','Congenital absence of the right-sided diaphragm.'),('HP:0032593','Myoglobin casts','A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.'),('HP:0032594','Renal tubular basement membrane denudation','Naked basement membranes without tubular epithelium.'),('HP:0032595','Renal tubular epithelial cell detachment','Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.'),('HP:0032596','Renal tubular epithelial cell cytoplasmic vacuolization','Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.'),('HP:0032597','Renal tubular epithelial cell sloughing','At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.'),('HP:0032598','Blebbing of apical cytoplasm of renal tubular epithelial cells','Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.'),('HP:0032599','Abnormal renal tubular epithelial morphology','Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.'),('HP:0032600','Renal tubular epithelial cell hyaline droplets','Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.'),('HP:0032601','Multinucleation of renal tubular epithelial cells','Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.'),('HP:0032602','Prominent nucleoli of renal tubular epithelial cells','Tubular epithelium with nucleoli clearly visible at 100-fold magnification.'),('HP:0032603','Renal tubular epithelial cell simplification','Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.'),('HP:0032604','Renal tubular epithelial cell mitosis','Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.'),('HP:0032605','High renal tubular epithelial cell N/C ratio','At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.'),('HP:0032606','Renal tubular epithelial lipofuscin','Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.'),('HP:0032607','Renal tubular epithelial cell swelling','Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.'),('HP:0032608','Thyroidization-type tubular atrophy','A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.'),('HP:0032609','Endocrine-type tubular atrophy','A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.'),('HP:0032610','Tubulointerstitial mycobacterial infiltration','Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.'),('HP:0032611','Renal tubular epithelial cell hemosiderin','Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.'),('HP:0032612','Triphalangeal hallux','A hallux (big toe) with three phalanges in a single, proximo-distal axis.'),('HP:0032613','Renal interstitial amyloid deposits','Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.'),('HP:0032614','Renal glomerular amyloid deposition','Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.'),('HP:0032615','Abnormal diffusion weighted cerebral MRI morphology','A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.'),('HP:0032616','Renal interstitial immunoglobulin deposits','Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).'),('HP:0032617','Renal interstitial hemorrhage','A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.'),('HP:0032618','Renal necrosis','Cell death (necrosis) affecting one or more parts of the kidney.'),('HP:0032619','Perinephric abscess','A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).'),('HP:0032620','Intrarenal abscess','An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.'),('HP:0032621','Hyperchromasia of renal tubular epithelial cells','At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.'),('HP:0032622','Tubular luminal dilatation','Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.'),('HP:0032623','Renal intratubular casts','Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.'),('HP:0032624','Intratubular bilirubin casts','A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).'),('HP:0032625','Intratubular erythrocyte cast','Casts that contain red blood cells and are located within the tubuli of the kidney.'),('HP:0032626','Intratubular vancomycin casts','Intratubular casts composed of vancomycin aggregates and uromodulin.'),('HP:0032627','Intratubular leukocyte casts','Casts that contain white blood cells and are located within the tubuli of the kidney.'),('HP:0032628','Renal intratubular crystals',''),('HP:0032629','Intratubular dihydroxyadenuria crystals','Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.'),('HP:0032630','Intratubular light-chain casts','The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.'),('HP:0032631','Intratubular hemoglobin casts','A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.'),('HP:0032632','Renal papillary necrosis','Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.'),('HP:0032633','Intratubular hyaline casts','A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.'),('HP:0032634','Intratubular myoglobin cast','Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.'),('HP:0032635','Tubulointerstitial microganismal infiltration','Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.'),('HP:0032636','Tubulointerstitial viral infiltration','Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.'),('HP:0032637','Renal interstitial edema','Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.'),('HP:0032638','Elevated urine mevalonic acid','An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.'),('HP:0032639','Elevated leukocyte cystine','An increased concentration of cystine within white blood cells.'),('HP:0032640','Elevated circulating CCL18 level','An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.'),('HP:0032641','Renal interstitial granulomas','Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.'),('HP:0032642','Renal interstitial necrotizing granulomas','An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.'),('HP:0032643','Renal interstitial non-necrotizing granulomas','Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.'),('HP:0032644','Renal interstitial deposits','Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.'),('HP:0032645','Renal interstitial mononuclear cell infiltration','Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).'),('HP:0032646','Renal interstitial xanthogranulomatous inflammation','Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.'),('HP:0032647','Renal tubular epithelial cell apoptosis','Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.'),('HP:0032648','Tubularization of Bowman capsule','The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.'),('HP:0032649','Skewfoot','A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus.'),('HP:0032650','Elevated CSF glial fibrillary acidic protein level','Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.'),('HP:0032651','Elevated CSF chitinase-3-like protein 1 level','Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.'),('HP:0032652','Elevated CSF chitotriosidase 1 level','Increased concentration of chitotriosidase 1 in cerebrospinal fluid.'),('HP:0032653','Elevated lactate:pyruvate ratio','An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.'),('HP:0032654','Impaired flow-mediated arterial dilatation','Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.'),('HP:0032655','Decreased adipose tissue tocopherol level','A reduced concentration of tocopherol in fat tissue.'),('HP:0032656','Febrile status epilepticus','A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.'),('HP:0032657','Elevated circulating lyso-globotriaosylsphingosine concentration','An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.'),('HP:0032658','Status epilepticus with prominent motor symptoms','Status epilepticus with prominent motor signs during the prolonged seizure.'),('HP:0032659','Non-convulsive status epilepticus with coma','A type of status epilepticus without prominent motor symptoms and in the presence of coma.'),('HP:0032660','Convulsive status epilepticus','A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.\ncomment: \nsource: \nseeAlso: Tonic-clonic status epilepticus'),('HP:0032661','Generalized convulsive status epilepticus','A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.'),('HP:0032662','Focal-onset seizure evolving into bilateral convulsive status epilepticus','A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.'),('HP:0032663','Focal motor status epilepticus','Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.'),('HP:0032664','Adversive status epilepticus','A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.'),('HP:0032665','Repeated focal motor seizures','A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.'),('HP:0032666','Hyperkinetic status epilepticus','Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.'),('HP:0032667','Myoclonic status epilepticus','A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.'),('HP:0032668','Myoclonic status epilepticus without coma','A type of myoclonic status epilepticus in the absence of coma.'),('HP:0032669','Myoclonic status epilepticus with coma','A type of myoclonic status epilepticus in the presence of coma.'),('HP:0032670','Tonic status epilepticus','Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.'),('HP:0032671','Non-convulsive status epilepticus without coma','A type of status epilepticus without prominent motor symptoms in the absence of coma.'),('HP:0032672','Autonomic status epilepticus','Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.'),('HP:0032673','Focal non-convulsive status epilepticus without coma','Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.'),('HP:0032674','Cutaneous wound','A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.'),('HP:0032675','Acute cutaneous wound','A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.'),('HP:0032676','Chronic cutaneous wound','A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.'),('HP:0032677','Generalized-onset motor seizure','A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.'),('HP:0032678','Eyelid myoclonia seizure','An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.'),('HP:0032679','Focal non-motor seizure','A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.'),('HP:0032680','Focal cognitive seizure','A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.'),('HP:0032681','Focal aware cognitive seizure','A focal aware cognitive seizure during which awareness is retained throughout the seizure.'),('HP:0032682','Focal non-motor aware seizure','A focal non-motor seizure in which awareness is retained throughout the seizure.'),('HP:0032683','obsolete Focal aware cognitive seizure with impaired attention',''),('HP:0032684','Focal aware cognitive seizure with auditory agnosia','A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.'),('HP:0032685','Focal cognitive seizure with auditory agnosia','A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.'),('HP:0032686','Focal aware cognitive seizure with memory impairment','A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.'),('HP:0032687','Focal cognitive seizure with memory impairment','A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).'),('HP:0032688','Focal aware cognitive seizure with dissociation','A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.'),('HP:0032689','Focal cognitive seizure with dissociation','A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.'),('HP:0032690','Focal aware cognitive seizure with dyscalculia/acalculia','A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.'),('HP:0032691','Focal cognitive seizure with dyscalculia/acalculia','A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.'),('HP:0032692','Focal cognitive seizure with forced thinking','A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.'),('HP:0032693','Focal cognitive seizure with neglect','A focal cognitive seizure characterized by neglect as the initial semiological manifestation.'),('HP:0032694','Focal cognitive seizure with dyslexia/alexia','A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.'),('HP:0032695','Focal cognitive seizure with illusion','A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.'),('HP:0032696','Focal cognitive seizure with receptive dysphasia/aphasia','A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.'),('HP:0032697','Focal cognitive seizure with deja vu/jamais vu','A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.'),('HP:0032698','Focal cognitive seizure with conduction dysphasia/aphasia','A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.'),('HP:0032699','Focal cognitive seizure with dysgraphia/agraphia','A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.'),('HP:0032700','Focal cognitive seizure with left-right confusion','A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.'),('HP:0032701','Focal cognitive seizure with anomia','A focal cognitive seizure characterized by anomia as the initial semiological manifestation.'),('HP:0032702','Focal cognitive seizure with expressive dysphasia/aphasia','A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.'),('HP:0032703','Focal cognitive seizure with hallucination','A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.'),('HP:0032704','Focal aware cognitive seizure with illusion','A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.'),('HP:0032705','Focal aware cognitive seizure with forced thinking','A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.'),('HP:0032706','Focal aware cognitive seizure with left-right confusion','A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.'),('HP:0032707','Focal aware cognitive seizure with dyslexia/alexia','A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.'),('HP:0032708','Focal aware cognitive seizure with anomia','A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.'),('HP:0032709','Focal aware cognitive seizure with dysgraphia/agraphia','A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.'),('HP:0032710','Focal aware cognitive seizure with receptive dysphasia/aphasia','A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.'),('HP:0032711','Focal aware clonic seizure','A type of focal clonic seizure during which awareness is fully retained throughout.'),('HP:0032712','Focal motor impaired awareness seizure','A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032713','Focal motor impaired awareness seizure with version','A focal motor seizure with version characterized by impaired awareness at some point during the seizure.'),('HP:0032714','Focal impaired awareness bilateral motor seizure','A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.'),('HP:0032715','Focal bilateral motor seizure','A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.'),('HP:0032716','Focal non-motor impaired awareness seizure','A focal non-motor seizure characterized by impaired awareness at some point during the seizure.'),('HP:0032717','Focal motor impaired awareness seizure with dystonia','A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.'),('HP:0032718','Focal motor seizure with dystonia','A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.'),('HP:0032719','Focal motor impaired awareness seizure with dysarthria/anarthria','A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.'),('HP:0032720','Focal motor seizure with dysarthria/anarthria','A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.'),('HP:0032721','Focal motor seizure with paresis/paralysis','A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.'),('HP:0032722','Focal aware tonic seizure','A type of focal tonic seizure during which awareness is fully retained throughout.'),('HP:0032723','Focal motor aware seizure with dystonia','A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.'),('HP:0032724','Focal impaired awareness tonic seizure','A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032725','Focal impaired awareness clonic seizure','A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.'),('HP:0032726','Focal impaired awareness hyperkinetic seizure','A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032727','Focal emotional seizure with agitation','Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.'),('HP:0032728','Focal impaired awareness atonic seizure','A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032729','Focal emotional seizure with pleasure','Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.'),('HP:0032730','Focal impaired awareness myoclonic seizure','A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032731','Focal aware hyperkinetic seizure','A type of focal hypermotor seizure during which awareness is fully retained throughout.'),('HP:0032732','Focal motor aware seizure with paresis/paralysis','A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.'),('HP:0032733','Focal motor aware seizure with dysarthria/anarthria','A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.'),('HP:0032734','Focal aware emotional seizure','A focal emotional seizure during which awareness is retained throughout the seizure.'),('HP:0032735','Focal aware emotional seizure with anger','Focal emotional seizure with anger in which awareness is retained throughout.'),('HP:0032736','Focal emotional seizure with anger','Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.'),('HP:0032737','Focal emotional seizure with paranoia','Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.'),('HP:0032738','Focal aware emotional seizure with fear/anxiety/panic','Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.'),('HP:0032739','Focal emotional seizure with fear/anxiety/panic','Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.'),('HP:0032740','Focal aware autonomic seizure','A focal autonomic seizure characterised by retained awareness throughout the seizure.'),('HP:0032741','Focal aware emotional seizure with paranoia','Focal emotional seizure with paranoia in which awareness is retained throughout.'),('HP:0032742','Focal aware emotional seizure with pleasure','Focal emotional seizure with pleasure in which awareness is retained throughout.'),('HP:0032743','Focal aware emotional seizure with crying','Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.'),('HP:0032744','Focal aware emotional seizure with agitation','Focal emotional seizure with agitation in which awareness is retained throughout.'),('HP:0032745','Focal aware emotional seizure with laughing','Focal emotional seizure with laughing in which awareness is retained throughout.'),('HP:0032746','Focal impaired awareness emotional seizure','A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032747','Focal impaired awareness emotional seizure with pleasure','Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032748','Focal impaired awareness emotional seizure with anger','Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032749','Focal impaired awareness emotional seizure with paranoia','Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032750','Focal impaired awareness emotional seizure with laughing','Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032751','Focal impaired awareness emotional seizure with crying','Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032752','Focal impaired awareness emotional seizure with fear/anxiety/panic','Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032753','Focal impaired awareness emotional seizure with agitation','A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032754','Focal aware sensory seizure','A focal sensory seizure during which awareness is retained throughout the seizure.'),('HP:0032755','Focal impaired awareness autonomic seizure','A focal autonomic seizure characterised by impaired awareness at some point within the seizure.'),('HP:0032756','Focal impaired awareness cognitive seizure','A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032757','Focal aware hemiclonic seizure','A focal hemiclonic seizure in which awareness is retained throughout.'),('HP:0032758','Focal aware myoclonic seizure','A type of focal myoclonic seizure during which awareness is fully retained throughout.'),('HP:0032759','Focal sensory seizure with vestibular features','A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.'),('HP:0032760','Focal sensory seizure with hot-cold sensations','A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.'),('HP:0032761','Focal aware autonomic seizure with pallor/flushing','A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.'),('HP:0032762','Focal autonomic seizure with pallor/flushing','A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.'),('HP:0032763','Focal autonomic seizure with pupillary dilation/constriction','A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.'),('HP:0032764','Focal autonomic seizure with erection','A type of focal autonomic seizure characterised by penile erection as the intial semiological feature.'),('HP:0032765','Focal autonomic seizure with urge to urinate/defecate','A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.'),('HP:0032766','Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration','A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.'),('HP:0032767','Focal autonomic seizure with piloerection','A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.'),('HP:0032768','Focal aware autonomic seizure with pupillary dilation/constriction','A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.'),('HP:0032769','Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration','An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.'),('HP:0032770','Focal aware autonomic seizure with erection','A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.'),('HP:0032771','Focal autonomic seizure with lacrimation','A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.'),('HP:0032772','Focal impaired awareness autonomic seizure with piloerection','A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.'),('HP:0032773','Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole','A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.'),('HP:0032774','Focal impaired awareness autonomic seizure with urge to urinate/defecate','A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.'),('HP:0032775','Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration','An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.'),('HP:0032776','Focal aware autonomic seizure with lacrimation',''),('HP:0032777','Focal impaired awareness autonomic seizure with pallor/flushing','A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.'),('HP:0032778','Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena','A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.'),('HP:0032779','Focal impaired awareness autonomic seizure with pupillary dilation/constriction','A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.'),('HP:0032780','Focal impaired awareness autonomic seizure with erection','A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.'),('HP:0032781','Focal aware autonomic seizure with urge to urinate/defecate','A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.'),('HP:0032782','Focal impaired awareness autonomic seizure with lacrimation','A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.'),('HP:0032783','Focal aware autonomic seizure with piloerection','A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.'),('HP:0032784','Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole','An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.'),('HP:0032785','Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena','A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.'),('HP:0032786','Migrating focal seizure','A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.'),('HP:0032787','Focal impaired awareness sensory seizure','A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032788','Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole','A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.'),('HP:0032789','Focal aware behavior arrest seizure','A focal behavior arrest seizure characterised by retained awareness throughout the seizure.'),('HP:0032790','Focal impaired awareness behavior arrest seizure','A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.'),('HP:0032791','Focal impaired awareness cognitive seizure with anomia','A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.'),('HP:0032792','Tonic seizure','A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.'),('HP:0032793','Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia','A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.'),('HP:0032794','Myoclonic seizure','A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.'),('HP:0032795','Generalized myoclonic-tonic-clonic seizure','A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.'),('HP:0032796','Focal impaired awareness cognitive seizure with left-right confusion','A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.'),('HP:0032797','Focal aware sensory seizure with olfactory features','Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.'),('HP:0032798','Focal impaired awareness cognitive seizure with neglect','A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.'),('HP:0032799','Focal impaired awareness hemiclonic seizure','A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.'),('HP:0032800','Focal aware sensory seizure with vestibular features','A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.'),('HP:0032801','Focal impaired awareness cognitive seizure with memory impairment','A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.'),('HP:0032802','Focal impaired awareness cognitive seizure with dyscalculia/acalculia','A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.'),('HP:0032803','Focal impaired awareness cognitive seizure with dysgraphia/agraphia','A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.'),('HP:0032804','Focal impaired awareness sensory seizure with olfactory features','A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032805','Focal impaired awareness sensory seizure with vestibular features','A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032806','Focal impaired awareness sensory seizure with visual features','A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032807','Neonatal seizure','A seizure occurring within the neonatal period (28 days beyond the full term date).'),('HP:0032808','Neonatal seizure with electrographic correlate','Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.'),('HP:0032809','Neonatal electro-clinical seizure','Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.'),('HP:0032810','Focal sensory seizure with cephalic sensation','A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.'),('HP:0032811','Neonatal electrographic only seizure','Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.'),('HP:0032812','Neonatal electro-clinical non-motor seizure',''),('HP:0032813','Neonatal electro-clinical motor seizure','Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.'),('HP:0032814','Neonatal electro-clinical clonic seizure','Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.'),('HP:0032815','Neonatal electro-clinical myoclonic seizure','Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).'),('HP:0032816','Neonatal multifocal myoclonic seizure','Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites.'),('HP:0032817','Neonatal focal myoclonic seizure','Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.'),('HP:0032818','Neonatal focal clonic seizure','Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.'),('HP:0032819','Neonatal bilateral clonic seizure','Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.'),('HP:0032820','Neonatal multifocal clonic seizure','Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.'),('HP:0032821','Neonatal electro-clinical tonic seizure','Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.'),('HP:0032822','Neonatal electro-clinical autonomic seizure','Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.'),('HP:0032823','Neonatal electro-clinical seizure with behavior arrest','Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.'),('HP:0032824','Neonatal focal tonic seizure','Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.'),('HP:0032825','Neonatal electro-clinical sequential motor seizure','Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.'),('HP:0032826','Focal neonatal sequential seizure','Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.'),('HP:0032827','Multifocal neonatal sequential seizure','Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.'),('HP:0032828','Neonatal bilateral symmetric tonic seizure','Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.'),('HP:0032829','Neonatal electro-clinical motor seizure with automatism','Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features.'),('HP:0032830','Neonatal seizure with bilateral asymmetric automatism','Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.'),('HP:0032831','Neonatal bilateral asymmetric tonic seizure','Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.'),('HP:0032832','Neonatal bilateral asymmetric myoclonic seizure','Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically.'),('HP:0032833','Neonatal epileptic spasm','A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.'),('HP:0032834','Neonatal seizure with unilateral automatism','Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body.'),('HP:0032835','Neonatal seizure with bilateral symmetric automatism','Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically.'),('HP:0032836','Neonatal bilateral symmetric myoclonic seizure','Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically.'),('HP:0032837','Bilateral asymmetric neonatal sequential seizure','Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.'),('HP:0032838','Neonatal unilateral epileptic spasm','Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.'),('HP:0032839','Bilateral symmetric neonatal sequential seizure','Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.'),('HP:0032840','Neonatal bilateral symmetric epileptic spasm','Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.'),('HP:0032841','Neonatal bilateral asymmetric epileptic spasm','Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.'),('HP:0032842','Generalized-onset epileptic spasm','A type of epileptic spasm of generalized onset.'),('HP:0032843','Focal-onset epileptic spasm','A type of epileptic spasm of focal onset.'),('HP:0032844','Focal impaired awareness epileptic spasm','A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.'),('HP:0032845','Focal aware epileptic spasm','A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.'),('HP:0032846','Focal motor seizure with negative myoclonus','A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.'),('HP:0032847','Focal impaired awareness hemifacial clonic seizure','Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.'),('HP:0032848','Focal aware cognitive seizure with neglect','A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.'),('HP:0032849','Aphasic status epilepticus','Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.'),('HP:0032850','Focal aware cognitive seizure with expressive dysphasia/aphasia','A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.'),('HP:0032851','Focal aware sensory seizure with visual features','A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.'),('HP:0032852','Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia','A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.'),('HP:0032853','Focal impaired awareness sensory seizure with hot-cold sensations','A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032854','Focal aware hemifacial clonic seizure','Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.'),('HP:0032855','Photosensitive myoclonic-tonic-clonic seizure','Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.'),('HP:0032856','Focal aware bilateral motor seizure','A type of focal bilateral motor seizure during which awareness is fully retained throughout.'),('HP:0032857','Focal motor aware seizure with negative myoclonus','A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.'),('HP:0032858','Focal motor impaired awareness seizure with negative myoclonus','A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure.'),('HP:0032859','Focal motor impaired awareness seizure with paresis/paralysis','A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.'),('HP:0032860','Generalized non-convulsive status epilepticus without coma','Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.'),('HP:0032861','Focal non-convulsive status epilepticus with impairment of consciousness','Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.'),('HP:0032862','Status epilepticus with ictal paresis','A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.'),('HP:0032863','Typical absence status epilepticus','Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.'),('HP:0032864','Focal aware sensory seizure with auditory features','A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.'),('HP:0032865','Myoclonic absence status epilepticus','Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.'),('HP:0032866','Oculoclonic status epilepticus','A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.'),('HP:0032867','Refractory status epilepticus','Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.'),('HP:0032868','Super-refractory status epilepticus','Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.'),('HP:0032869','Focal non-convulsive status epilepticus without impairment of consciousness','Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.'),('HP:0032870','Focal impaired awareness cognitive seizure with dyslexia/alexia','A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.'),('HP:0032871','Focal aware cognitive seizure with hallucination','A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.'),('HP:0032872','Focal impaired awareness cognitive seizure with illusion','A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.'),('HP:0032873','Focal aware sensory seizure with cephalic sensation','A seizure characterized by a sensation in the head such as light-headedness or headache.'),('HP:0032874','Focal impaired awareness cognitive seizure with auditory agnosia','A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.'),('HP:0032875','obsolete Focal impaired awareness cognitive seizure with impaired responsiveness',''),('HP:0032876','Focal aware cognitive seizure with conduction dysphasia/aphasia','A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.'),('HP:0032877','Focal aware sensory seizure with hot-cold sensations','A seizure characterized by sensations of feeling hot and then cold.'),('HP:0032878','Focal impaired awareness sensory seizure with cephalic sensation','A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032879','Focal impaired awareness seizure with dissociation at onset','A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure.'),('HP:0032880','Focal impaired awareness sensory seizure with auditory features','A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032881','obsolete Focal aware cognitive seizure with impaired responsiveness',''),('HP:0032882','Focal impaired awareness cognitive seizure with deja vu/jamais vu','A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.'),('HP:0032883','Focal aware cognitive seizure with deja vu/jamais vu','A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.'),('HP:0032884','Focal aware sensory seizure with somatosensory features','A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.'),('HP:0032885','Focal impaired awareness cognitive seizure with hallucination','A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.'),('HP:0032886','Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia','A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.'),('HP:0032887','Generalized atonic seizure','Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.'),('HP:0032888','Focal impaired awareness cognitive seizure with forced thinking','A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.'),('HP:0032889','Focal aware sensory seizure with gustatory features','A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.'),('HP:0032890','Focal impaired awareness sensory seizure with somatosensory features','A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032891','Focal motor aware seizure with version','A focal motor seizure with version characterized by retained awareness throughout the seizure.'),('HP:0032892','Infection-related seizure','Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.'),('HP:0032893','Gastroenteritis-related afebrile seizure','Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.'),('HP:0032894','Seizure precipitated by febrile infection','Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.'),('HP:0032895','Febrile seizure outside the age of 3 months to 6 years','Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.'),('HP:0032896','Music-induced seizure','Seizure precipitated by listening to music or other complex sounds.'),('HP:0032897','Focal impaired awareness sensory seizure with gustatory features','A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032898','Focal automatism seizure','A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.'),('HP:0032899','Focal orofacial automatism seizure','A type of focal automatism seizure characterized by orofacial automatisms at onset.'),('HP:0032900','Focal manual automatism seizure','A type of focal automatism seizure characterized by manual automatisms at onset.'),('HP:0032901','Focal pedal automatism seizure','A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.'),('HP:0032902','Focal perseverative automatism seizure','A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.'),('HP:0032903','Focal vocal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.'),('HP:0032904','Focal verbal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.'),('HP:0032905','Focal sexual automatism seizure','A type of focal automatism seizure characterized by involuntary sexual behavior at onset.'),('HP:0032906','Focal head nodding automatism seizure','A type of focal automatism seizure characterized by involuntary head nodding at onset.'),('HP:0032907','Focal undressing automatism seizure','A type of focal automatism seizure characterized by involuntary undressing at onset.'),('HP:0032908','Focal aware undressing automatism seizure','A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.'),('HP:0032909','Focal impaired awareness automatism seizure','A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.'),('HP:0032910','Focal aware automatism seizure','A type of focal automatism seizure during which awareness is fully retained throughout.'),('HP:0032911','Focal aware orofacial automatism seizure','A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.'),('HP:0032912','Focal aware manual automatism seizure','A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.'),('HP:0032913','Focal aware pedal automatism seizure','A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.'),('HP:0032914','Focal aware perseverative automatism seizure','A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.'),('HP:0032915','Focal aware vocal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.'),('HP:0032916','Focal aware verbal automatism seizure','A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.'),('HP:0032917','Focal aware sexual automatism seizure','A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.'),('HP:0032918','Focal impaired awareness orofacial automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.'),('HP:0032919','Focal aware head nodding automatism seizure','A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.'),('HP:0032920','Focal impaired awareness manual automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.'),('HP:0032921','Focal impaired awareness pedal automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.'),('HP:0032922','Focal impaired awareness perseverative automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.'),('HP:0032923','Focal impaired awareness vocal automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.'),('HP:0032924','Focal impaired awareness verbal automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.'),('HP:0032925','Focal impaired awareness sexual automatism seizure','A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.'),('HP:0032926','Focal impaired awareness head nodding automatism seizure','A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.'),('HP:0032927','Focal impaired awareness undressing automatism seizure','A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.'),('HP:0032928','Elevated CSF neurofilamant light chain','Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.'),('HP:0032929','Abnormal chondrocyte morphology','Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.'),('HP:0032930','Lacunar halos around chondrocytes','Concentric rings around the chondrocytes.'),('HP:0032931','obsolete Focal impaired awareness cognitive seizure with impaired attention',''),('HP:0032932','Increased circulating pancreatic triacylglycerol lipase level','An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).'),('HP:0032933','Airway hyperresponsiveness','An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.'),('HP:0032934','Spontaneous cerebrospinal fluid leak','A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).'),('HP:0032935','Posterior crocodile shagreen of the cornea','Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.'),('HP:0032936','Intrusion symptom','Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context.'),('HP:0032937','Recurrent, involuntary and intrusive distressing memories','After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind`s eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory.'),('HP:0032938','Recurrent trauma-related distressing dreams','Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events.'),('HP:0032939','Physiological reactivity to cues','Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).'),('HP:0032940','Dissociative reaction','A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration.'),('HP:0032941','Intense psychological distress to cues','Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.'),('HP:0032942','Avoidance of stimuli associated with traumatic event','Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).'),('HP:0032943','Abnormal urine pH','A deviation of urine pH from the normal range of 4.5 to 7.8.'),('HP:0032944','Alkaline urine','Urine pH of 8 or higher.'),('HP:0032945','Renal interstitial inflammation','Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.'),('HP:0032946','Renal cortical interstitial inflammation','Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.'),('HP:0032947','Renal medullary interstitial inflammation','Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.'),('HP:0032948','Renal interstitial fibrosis','The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.'),('HP:0032949','Renal interstitial calcium phosphate deposits','The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.'),('HP:0032950','Abnormal renal tubular lumen morphology','Abnormal structure or form of the lumen (opening) of kidney tubules.'),('HP:0032951','Renal tubular viral cytopathic changes','Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.'),('HP:0032952','Usual-type tubular atrophy','A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.'),('HP:0032953','Renal tubular cytomegalovirus inclusions','Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl`s eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.'),('HP:0032954','Renal tubular adenovirus inclusions','Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage.'),('HP:0032955','Renal tubular polyoma virus inclusions','Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.'),('HP:0032956','Renal tubular herpes simplex virus inclusions','Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.'),('HP:0032957','Dysmorphic hematuria','The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.'),('HP:0032958','Urinary oval fat bodies','The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.'),('HP:0032959','Intratubular calcium oxalate casts','Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.'),('HP:0032960','Intratubular calcium phosphate casts','Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.'),('HP:0032961','Magnesium ammonium phosphate crystalluria','Magnesium ammonium phosphate crystals in the urine.'),('HP:0032962','Tubular microcystic change','Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.'),('HP:0032963','Complex renal cyst','A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.'),('HP:0032964','Uric acid crystalluria','The presence of uric acid crystals in the urine.'),('HP:0032965','Interstitial emphysema','Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.'),('HP:0032966','Centrilobular emphysema','A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.'),('HP:0032967','Panacinar emphysema','Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.'),('HP:0032968','Expiratory air trapping','Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.'),('HP:0032969','Traction bronchiectasis','Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.'),('HP:0032970','Traction bronchiolectasis',''),('HP:0032971','Computed tomographic halo sign','CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.'),('HP:0032972','Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT','A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.'),('HP:0032973','Abnormal bronchoalveolar lavage fluid morphology','Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.'),('HP:0032974','Abnormal cellular composition of bronchoalveolar fluid','Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.'),('HP:0032975','Abnormal bronchoalveolar fluid protein level','Any deviation from the normal concentration of protein in the bronchoalveolar fluid.'),('HP:0032976','Elevated bronchoalveolar lavage fluid lymphocyte proportion','Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.'),('HP:0032977','Elevated bronchoalveolar lavage fluid neutrophil proportion','Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.'),('HP:0032978','Lipid-laden macrophages in bronchoalveolar fluid','Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.'),('HP:0032979','Hemosiderin-laden macrophages in bronchoalveolar fluid','Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).'),('HP:0032980','Absent bronchoalveolar surfactant-protein C','Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.'),('HP:0032981','Absent bronchoalveolar dimeric surfactant-protein B','Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.'),('HP:0032982','Intraalveolar phospholipid accumulation','In the space betweem alveolar macrophages, amorphous PAS-positive material, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.'),('HP:0032983','Atoll sign','CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.'),('HP:0032984','Abnormal alveolar macrophage morphology','Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.'),('HP:0032985','Dust particle inclusion in alveolar macrophages','Accumulation of inhaled, nondigestable particles in macrophages.'),('HP:0032986','Smoker-inclusions in alveolar macrophages','In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.'),('HP:0032987','Elevated bronchoalveolar lavage fluid eosinophil proportion','Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.'),('HP:0032988','Persistent head lag','The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.'),('HP:0032989','Delayed ability to roll over','Delayed ahcievement of the ability to roll front to back and back to front.'),('HP:0032990','Localized pulmonary hemorrhage','Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.'),('HP:0032991','Abnormal pulmonary fissure morphology','An abnormal form or number of the pulmonary fissures.'),('HP:0032992','Abnormal pulmonary fissure architecture','An abnormal form or location of a pulmonary fissure.'),('HP:0032993','Abnormal pulmonary fissure count','A deviation from the normal number of pulmonary fissures.'),('HP:0032994','Supernumerary pulmonary fissure','Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.'),('HP:0032995','Decreased pulmonary fissure count','Lack of one or more of the normal pulmonary fissures.'),('HP:0032996','Abnormal cystatin C level','Any deviation from the normal concentration of cystatin C in serum or plasma.'),('HP:0032997','Decreased cystatin C level','A decreased concentration of cystatin C in the blood circulation.'),('HP:0032998','Increased cystatin C level','A elevated concentration of cystatin C in the blood circulation.'),('HP:0032999','Increased fecal porphyrin','Abnormally high concentration of fecal porphyrins in feces.'),('HP:0033000','Subglottic laryngitis','Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.'),('HP:0033001','Laryngeal papilloma','A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.'),('HP:0033002','Bronchial papilloma','A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.'),('HP:0033003','Tracheal papilloma','A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.'),('HP:0033004','Palmar warts','Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).'),('HP:0033005','Plantar warts','Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).'),('HP:0033006','Diffuse alveolar damage','Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cells necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.'),('HP:0033007','Architectural distortion of the lung','Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.'),('HP:0033008','Increased Z-disc width','Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).'),('HP:0033009','Increased fecal coproporphyrin 1','Abnormally high concentration of coproporphyrin 3 in feces.'),('HP:0033010','Increased fecal coproporphyrin 3','Abnormally high concentration of coproporphyrin 3 in feces'),('HP:0033011','Platystencephaly','Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.'),('HP:0033012','Abnormal salivary metabolite concentration','Any deviation from the normal concentration of a metabolite in saliva.'),('HP:0033013','Abnormal salivary cortisol level','Any deviation from the normal concentration of cortisol in saliva.'),('HP:0033014','Decreased salivary cortisol level','Abnormally reduced concentration of cortisol in saliva.'),('HP:0033015','Increased salivary cortisol level','Abnormally elevated concentration of cortisol in saliva.'),('HP:0033016','Chronic decreased circulating IgD','A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.'),('HP:0033017','Transient decreased circulating IgD','A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.'),('HP:0033018','Chronic absent circulating IgD','A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.'),('HP:0033019','Male reproductive system neoplasm','A neoplasm that affects the male reproductive system.'),('HP:0033020','Female reproductive system neoplasm','A neoplasm that affects the female reproductive system.'),('HP:0033021','Transient decreased circulating IgE','A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.'),('HP:0033022','Chronic decreased circulating IgE','A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.'),('HP:0033023','Chronic absent circulating IgE','A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.'),('HP:0033024','Transient decreased circulating IgA','A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.'),('HP:0033025','Chronic absent circulating total IgG','A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.'),('HP:0033026','White oral mucosal macule','A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.'),('HP:0033027','Retinal peau d`orange','A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.'),('HP:0033029','Anti-Jo-1 antibody positivity','The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase.'),('HP:0040004','Abnormality of corneal shape',''),('HP:0040006','Mortality/Aging',''),('HP:0040007','Absent pigmentation of chest','Lack of skin pigmentation (coloring) of the chest.'),('HP:0040008','Aplasia of facial bones',''),('HP:0040009','Hyperparakeratosis','Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.'),('HP:0040010','Small posterior fossa',''),('HP:0040011','Flat posterior fossa',''),('HP:0040012','Chromosome breakage','Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.'),('HP:0040013','Decreased mitochondrial number',''),('HP:0040014','Increased mitochondrial number',''),('HP:0040015','Increased activity of mitochondrial respiratory chain',''),('HP:0040016','Prominent coccyx',''),('HP:0040017','Protruding coccyx',''),('HP:0040018','Clinodactyly of hallux',''),('HP:0040019','Finger clinodactyly',''),('HP:0040020','Radial deviation of the 5th finger',''),('HP:0040021','Radial deviation of the thumb',''),('HP:0040022','Clinodactyly of the 2nd finger',''),('HP:0040023','Clinodactyly of the thumb',''),('HP:0040024','Clinodactyly of the 3rd finger',''),('HP:0040025','Clinodactyly of the 4th finger',''),('HP:0040030','Chorioretinal hypopigmentation',''),('HP:0040031','Chorioretinal hyperpigmentation',''),('HP:0040032','Hypoplasia of the upper eyelids',''),('HP:0040033','Aplasia/Hypoplasia of the fifth metatarsal bone',''),('HP:0040034','Abnormality of the second metatarsal bone',''),('HP:0040035','Abnormality of the fourth metatarsal bone',''),('HP:0040036','Onychogryposis of fingernail','Thickened fingernails.'),('HP:0040037','obsolete Thin fingernail (obsolete)',''),('HP:0040038','obsolete Thin toenail',''),('HP:0040039','Onycholysis of fingernails',''),('HP:0040040','Toenail onycholysis','Painless and spontaneous separation of a toenail from the nail bed.'),('HP:0040042','Aplasia of the eccrine sweat glands',''),('HP:0040043','Hypoplasia of the eccrine sweat glands',''),('HP:0040044','Hypoplasia of the diaphragm',''),('HP:0040045','Abnormal hemidiaphragm morphology',''),('HP:0040046','Abnormal left hemidiaphragm morphology',''),('HP:0040047','Abnormal right hemidiaphragm morphology',''),('HP:0040048','obsolete Aplasia of the left hemidiaphragm',''),('HP:0040049','Macular edema','Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.'),('HP:0040050','Sparse upper eyelashes',''),('HP:0040051','Abnormality of upper eyelashes',''),('HP:0040052','Abnormality of lower eyelashes',''),('HP:0040053','Long lower eyelashes',''),('HP:0040054','Short upper eyelashes',''),('HP:0040055','Short lower eyelashes',''),('HP:0040056','Absent upper eyelashes',''),('HP:0040057','Abnormality of nasal hair',''),('HP:0040059','Calcification of ribs',''),('HP:0040061','Osteosclerosis of the radius',''),('HP:0040062','Slender radius',''),('HP:0040063','Decreased adipose tissue',''),('HP:0040064','Abnormality of limbs',''),('HP:0040065','obsolete Abnormal morphology of bones of the upper limbs',''),('HP:0040066','obsolete Abnormal morphology of bones of the lower limbs',''),('HP:0040068','Abnormality of limb bone',''),('HP:0040069','Abnormal lower limb bone morphology',''),('HP:0040070','Abnormal upper limb bone morphology',''),('HP:0040071','Abnormal morphology of ulna',''),('HP:0040072','Abnormality of forearm bone',''),('HP:0040073','Abnormal forearm bone morphology',''),('HP:0040075','Hypopituitarism',''),('HP:0040077','obsolete Abnormal concentration of calcium in blood',''),('HP:0040078','Axonal degeneration',''),('HP:0040079','Irregular dentition',''),('HP:0040080','Anteverted ears',''),('HP:0040081','Abnormal circulating creatine kinase concentration','Any deviation from the normal circulating creatine kinase concentration.'),('HP:0040082','Happy demeanor','A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.'),('HP:0040083','Toe walking',''),('HP:0040084','Abnormal circulating renin','A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.'),('HP:0040085','Abnormal circulating aldosterone',''),('HP:0040086','Abnormal prolactin level',''),('HP:0040087','Abnormal blood folate concentration','Any deviation from the normal concentration of folate in the blood circulation.'),('HP:0040088','Abnormal lymphocyte count','Any abnormality in the total number of lymphocytes in the blood.'),('HP:0040089','Abnormal natural killer cell count','Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.'),('HP:0040090','Abnormality of the tympanic membrane','An abnormality of the tympanic membrane'),('HP:0040091','Asymmetry of the size of ears',''),('HP:0040092','Asymmetry of the shape of the ears',''),('HP:0040093','Asymmetry of the position of the ears',''),('HP:0040095','Neoplasm of the outer ear','A tumor (abnormal growth of tissue) of the outer ear.'),('HP:0040096','Neoplasm of the inner ear','A tumor (abnormal growth of tissue) of the inner ear.'),('HP:0040097','Neoplasm of the ceruminal gland','A tumor (abnormal growth of tissue) of the ceruminal gland.'),('HP:0040098','Basalioma of the outer ear',''),('HP:0040099','Abnormality of the round window',''),('HP:0040100','Abnormality of the vestibular window',''),('HP:0040101','Cutaneous atresia of the external auditory canal',''),('HP:0040102','Osseous atresia of the external auditory canal',''),('HP:0040103','Cutaneous stenosis of the external auditory canal',''),('HP:0040104','Osseous stenosis of the external auditory canal',''),('HP:0040106','Morphological abnormality of the lateral semicircular canal',''),('HP:0040107','Morphological abnormality of the posterior semicircular canal',''),('HP:0040108','Morphological abnormality of the anterior semicircular canal',''),('HP:0040109','Morphological abnormality of the utricle',''),('HP:0040110','Morphological abnormality of the saccule',''),('HP:0040111','Bilateral external ear deformity',''),('HP:0040112','Abnormal number of tubercles',''),('HP:0040113','Old-aged sensorineural hearing impairment',''),('HP:0040114','Absence of the reflex of the tensor tympani muscle',''),('HP:0040115','Abnormality of the Eustachian tube',''),('HP:0040116','Aplasia of the Eustachian tube',''),('HP:0040117','Atresia of the Eustachian tube',''),('HP:0040118','Stenosis of the Eustachian tube',''),('HP:0040119','Unilateral conductive hearing impairment',''),('HP:0040120','Abnormality of the reflex of the tensor tympani muscle',''),('HP:0040121','Abnormality of the acoustic reflex','An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.'),('HP:0040122','Impairment of the the acoustic reflex',''),('HP:0040123','Impairment of the reflex of the tensor tympani muscle',''),('HP:0040124','Patent tuba eustachii',''),('HP:0040126','Abnormal vitamin B12 level','A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.'),('HP:0040127','Abnormal sweat homeostasis','An abnormality of the composition of sweat or the levels of its components.'),('HP:0040128','Abnormal sweat electrolytes',''),('HP:0040129','Abnormal nerve conduction velocity',''),('HP:0040130','Abnormal serum iron concentration',''),('HP:0040131','Abnormal motor nerve conduction velocity',''),('HP:0040132','Abnormal sensory nerve conduction velocity',''),('HP:0040133','Abnormal serum ferritin','A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.'),('HP:0040134','Abnormal hepatic iron concentration',''),('HP:0040135','Abnormal transferrin saturation','Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.'),('HP:0040137','Comedonal acne','A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.'),('HP:0040138','Mucinous histiocytosis','Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.'),('HP:0040139','Lipogranulomatosis','Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.'),('HP:0040140','Degeneration of the striatum',''),('HP:0040141','Tardive dyskinesia',''),('HP:0040142','Reduced 5-oxoprolinase level','Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.'),('HP:0040143','Dystopic os odontoideum','Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus'),('HP:0040144','L-2-hydroxyglutaric aciduria','An increase in the level of L-2-hydroxyglutaric acid in the urine.'),('HP:0040145','Dicarboxylic acidemia',''),('HP:0040146','D-2-hydroxyglutaric acidemia',''),('HP:0040147','L-2-hydroxyglutaric acidemia',''),('HP:0040148','Cortical myoclonus',''),('HP:0040149','Woolly scalp hair','The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.'),('HP:0040150','Epiblepharon of upper lid',''),('HP:0040151','Epiblepharon of lower lid',''),('HP:0040154','Acne inversa','A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.'),('HP:0040155','Elevated urinary 3-hydroxybutyric acid','An increased amount of 3-hydroxybutyric acid in the urine.'),('HP:0040156','Elevated urinary carboxylic acid','An increased amount of carboxylic acid in the urine.'),('HP:0040157','Abnormal intermamillary distance',''),('HP:0040158','Short intermamillary distance',''),('HP:0040159','Abnormal spaced incisors',''),('HP:0040160','Generalized osteoporosis',''),('HP:0040161','Localized osteoporosis',''),('HP:0040162','Orthokeratosis','Formation of an anuclear keratin layer'),('HP:0040163','Abnormal pelvis bone morphology',''),('HP:0040164','Lipomas of eyelids','Fatty tumors on the eyelids.'),('HP:0040165','Periostitis','Inflammation of the periosteum'),('HP:0040166','Abnormality of the periosteum',''),('HP:0040167','Facial papilloma',''),('HP:0040168','Focal seizures, afebril',''),('HP:0040169','Loose anagen hair',''),('HP:0040170','Abnormality of hair growth',''),('HP:0040171','Decreased serum testosterone level',''),('HP:0040172','Abnormality of occipitofrontalis muscle',''),('HP:0040173','Abnormality of the tongue muscle',''),('HP:0040174','Abnormality of extrinsic muscle of tongue',''),('HP:0040175','Platelet-activating factor acetylhydrolase deficiency','Reduced level of platelet-activating factor acetylhydrolase.'),('HP:0040176','Abnormal circulating phospholipid concentration','Any deviation from the normal concentration of a phospholipid in the blood circulation.'),('HP:0040177','Abnormal level of platelet-activating factor',''),('HP:0040178','Increased level of platelet-activating factor',''),('HP:0040179','Decreased level of platelet-activating factor',''),('HP:0040180','Hyperkeratosis pilaris',''),('HP:0040181','Chapped lip','Cracking, fissuring, and peeling of the skin of the lips.'),('HP:0040182','Inappropriate sinus tachycardia','Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.'),('HP:0040183','Encopresis',''),('HP:0040184','Oral bleeding',''),('HP:0040185','Macrothrombocytopenia',''),('HP:0040186','Maculopapular exanthema','A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.'),('HP:0040187','Neonatal sepsis','Systemic inflammatory response to infection in newborn babies.'),('HP:0040188','Osteochondrosis','Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.'),('HP:0040189','Scaling skin','Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.'),('HP:0040190','White scaling skin',''),('HP:0040191','Rectus femoris muscle atrophy',''),('HP:0040192','APUdoma','An endocrine tumor arising from an APUD cell.'),('HP:0040193','obsolete Pinealoblastoma',''),('HP:0040194','Increased head circumference','An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.'),('HP:0040195','Decreased head circumference','An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.'),('HP:0040196','Mild microcephaly','Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).'),('HP:0040197','Encephalomalacia','Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.'),('HP:0040198','Non-medullary thyroid carcinoma',''),('HP:0040199','obsolete Flat midface',''),('HP:0040200','Motor impersistence','The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged `ah` sound) without repeated prompts.'),('HP:0040201','Simultanapraxia','A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.'),('HP:0040202','Abnormal consumption behavior',''),('HP:0040203','Abnormal CSF neopterin level','Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).'),('HP:0040204','Elevated CSF neopterin level','Increased concentration of neopterin in the cerebrospinal fluid (CSF).'),('HP:0040205','Decreased CSF neopterin level','Decreased concentration of neopterin in the cerebrospinal fluid (CSF).'),('HP:0040206','Abnormal circulating neopterin concentration','Any deviation from the normal concentration of neopterin in the blood circulation.'),('HP:0040207','Abnormal CSF biopterin level','Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).'),('HP:0040208','Elevated CSF biopterin level','Increased concentration of biopterin in the cerebrospinal fluid (CSF).'),('HP:0040209','Decreased CSF biopterin level','Decreased concentration of biopterin in the cerebrospinal fluid (CSF).'),('HP:0040210','Abnormal circulating biopterin concentration','A deviation from the normal concentration of biopterin in the blood circulation.'),('HP:0040211','Abnormal skin morphology of the palm','An abnormality of the skin of the palm, that is, the skin of the front of the hand.'),('HP:0040212','Risus sardonicus','Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.'),('HP:0040213','Hypopnea','Hypopnea is referring to breathing that is abnormally shallow.'),('HP:0040214','Abnormal insulin level','An abnormal concentration of insulin in the body.'),('HP:0040215','Abnormal circulating insulin level','An abnormal concentration of insulin in the blood.'),('HP:0040216','Hypoinsulinemia','A decreased concentration of insulin in the blood.'),('HP:0040217','Elevated hemoglobin A1c','An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.'),('HP:0040218','Reduced natural killer cell count','Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.'); +INSERT INTO `Symptom` VALUES ('HP:0040219','Absent natural killer cells','Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.'),('HP:0040220','Abnormal size of the dental root',''),('HP:0040221','Hypoplasia of the dental root',''),('HP:0040222','Maternal thrombophilia','An increased tendency towards thrombosis in the mother during a pregnancy.'),('HP:0040223','Pulmonary hemorrhage','Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.'),('HP:0040224','Abnormality of fibrinolysis','Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)'),('HP:0040225','Decrease in high molecular weight von Willebrand factor Multimers','A decrease in high molecular weight von Willebrand factor multimers.'),('HP:0040226','Decreased level of heparin co-factor II','An abnormality of coagulation related to a decreased concentration of heparin co-factor II'),('HP:0040227','Decreased level of histidine-rich glycoprotein','Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation'),('HP:0040228','Decreased level of plasminogen','A decreased level of Plasminogen'),('HP:0040229','Decreased level of thrombomodulin','Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot'),('HP:0040230','Decreased level of tissue plasminogen activator','The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis'),('HP:0040231','Abnormal onset of bleeding',''),('HP:0040232','Delayed onset bleeding','Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.'),('HP:0040233','Factor XIII subunit A deficiency','Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.'),('HP:0040234','Factor XIII subunit B deficiency','Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.'),('HP:0040235','Leukocyte inclusion bodies','The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.'),('HP:0040236','Hyperfibrinolysis','Increased degradation of fibrin, associated with clot instability and bleeding'),('HP:0040237','Impaired binding of factor VIII to VWF','Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.'),('HP:0040238','Impaired neutrophil chemotaxis','An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response'),('HP:0040239','Increased plasma vitamin K epoxide after vitamin K supplementation','Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.'),('HP:0040240','Increased ratio of VWF propeptide to VWF antigen','An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.'),('HP:0040241','Increased RIPA','Increased platelet agglutination in response to low-dose ristocetin'),('HP:0040242','Muscle hemorrhage','Bleeding occuring within a muscle'),('HP:0040243','Prolonged euglobulin clot lysis time','Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.'),('HP:0040244','Prolonged Russell`s viper venom time','Increased time to coagulation in the Russell`s viper venom assay'),('HP:0040245','Reduced alpha-2-antiplasmin activity','Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.'),('HP:0040246','Reduced antithrombin antigen','Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.'),('HP:0040247','Reduced euglobulin clot lysis time','Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.'),('HP:0040248','Reduced plasminogen activator inhibitor 1 activity','Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.'),('HP:0040249','Reduced plasminogen activator inhibitor 1 antigen','Reduced level of plasminogen activator inhibitor 1 antigen.'),('HP:0040250','Reduced prothrombin antigen','Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.'),('HP:0040251','Hand dimple','A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.'),('HP:0040252','Abnormal size of the clitoris',''),('HP:0040253','Increased size of the clitoris',''),('HP:0040254','Decreased size of the clitoris',''),('HP:0040255','Aplasia/Hypoplasia of the clitoris',''),('HP:0040256','Aplastic/Hypoplastic nasopharyngeal adenoids','Absence or underdevelopment of the nasopharyngeal adenoids.'),('HP:0040257','Abnormal size of nasopharyngeal adenoids','A deviation in the size of nasopharyngeal adenoids.'),('HP:0040258','Hypoplastic nasopharyngeal adenoids','Underdevelopment of the nasopharyngeal adenoids.'),('HP:0040259','Aplastic nasopharyngeal adenoids','Absence of the nasopharyngeal adenoids as a developmental defect.'),('HP:0040260','Decreased size of nasopharyngeal adenoids','An abnormal decrease in the size of nasopharyngeal adenoids.'),('HP:0040261','Increased size of nasopharyngeal adenoids','An abnormal increase in the size of nasopharyngeal adenoids.'),('HP:0040262','Glue ear','Middle ear is filled with glue-like fluid instead of air.'),('HP:0040263','Jaw ankylosis',''),('HP:0040264','Jaw pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.'),('HP:0040265','Upper limb muscle hypertrophy',''),('HP:0040266','Proximal upper limb muscle hypertrophy',''),('HP:0040267','Distal upper limb muscle hypertrophy',''),('HP:0040268','Recurrent infections of the middle ear','Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections'),('HP:0040269','Blocked Eustachian tube',''),('HP:0040270','Impaired glucose tolerance','An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.'),('HP:0040272','Hyperintensity of MRI T2 signal of the spinal cord','A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.'),('HP:0040273','Adenocarcinoma of the intestines','A malignant epithelial tumor with a glandular organization that originates in the intestines.'),('HP:0040274','Adenocarcinoma of the small intestine','A malignant epithelial tumor with a glandular organization that originates in the small intestine.'),('HP:0040275','Adenocarcinoma of the large intestine','A malignant epithelial tumor with a glandular organization that originates in the large intestine.'),('HP:0040276','Adenocarcinoma of the colon',''),('HP:0040277','Neoplasm of the pituitary gland',''),('HP:0040278','Prolactinoma','A benign tumor (adenoma) of the pituitary gland'),('HP:0040279','Frequency','Class to represent frequency of phenotypic abnormalities within a patient cohort.'),('HP:0040280','Obligate','Always present, i.e. in 100% of the cases.'),('HP:0040281','Very frequent','Present in 80% to 99% of the cases.'),('HP:0040282','Frequent','Present in 30% to 79% of the cases.'),('HP:0040283','Occasional','Present in 5% to 29% of the cases.'),('HP:0040284','Very rare','Present in 1% to 4% of the cases.'),('HP:0040285','Excluded','Present in 0% of the cases.'),('HP:0040286','Abnormal axial muscle morphology','A structural anomaly of the muscles of the trunk and head.'),('HP:0040287','Axial muscle atrophy',''),('HP:0040288','Nasogastric tube feeding','The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.'),('HP:0040289','Cyclic neutropenia','Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).'),('HP:0040290','obsolete Abnormality of skeletal muscles',''),('HP:0040291','Skeletal muscle steatosis',''),('HP:0040292','Left hemiplegia',''),('HP:0040293','Right hemiplegia',''),('HP:0040294','Duplicated tongue',''),('HP:0040295','Duplication of the upper lip',''),('HP:0040296','Abnormal location of the eyebrow',''),('HP:0040297','Preauricular cyst','Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.'),('HP:0040298','Hyperplasia of the endometrium',''),('HP:0040299','Decreased circulating free fatty acid level',''),('HP:0040300','Abnormal circulating free fatty acid concentration','Any deviation from the normal concentration of a free fatty acid in the blood circulation.'),('HP:0040301','Increased urinary glycerol','An increased concentration of glycerol in the urine.'),('HP:0040302','Hyperglycerolemia','Increased concentration of glycerol in the blood.'),('HP:0040303','Decreased serum iron',''),('HP:0040304','Duplication of the sella turcica',''),('HP:0040305','Increased male libido','Increased desire for sexual activity on the part of a male.'),('HP:0040306','Decreased male libido','Reduced desire for sexual activity on the part of a male.'),('HP:0040307','Male sexual dysfunction','A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity'),('HP:0040308','Male anorgasmia','Inability of a male to reach orgasm.'),('HP:0040309','Increased size of the mandible',''),('HP:0040310','Sterile arthritis','An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.'),('HP:0040311','Symetrical distal arthritis',''),('HP:0040312','Temporomandibular arthritis',''),('HP:0040313','Oligoarthritis','A type of arthritis that affects up to four joints in the first six months of disease.'),('HP:0040314','Blind vagina','The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.'),('HP:0040315','Tongue edema','An abnormal accumulation of fluid and swelling in the tongue.'),('HP:0040316','obsolete Aplasia of the penis',''),('HP:0040317','Blue urine','An abnormal blue color of the urine.'),('HP:0040318','Red urine','An abnormal red color of the urine.'),('HP:0040319','Dark urine','An abnormal dark color of the urine.'),('HP:0040320','Red-brown urine','An abnormal red-brown color of the urine.'),('HP:0040321','Dark yellow urine','An abnormal dark-yellow color of the urine.'),('HP:0040322','Purple urine','An abnormal purple color of the urine.'),('HP:0040323','Erythema of the eyelids','Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.'),('HP:0040324','Heliotrope rash','In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.'),('HP:0040325','Bull`s eye rash','A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.'),('HP:0040326','Hypoplasia of the olfactory bulb','Underdevelopment of the olfactory bulb.'),('HP:0040327','Abnormal morphology of the olfactory bulb','An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.'),('HP:0040328','Focal hyperintensity of cerebral white matter on MRI','An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.'),('HP:0040329','Multifocal hyperintensity of cerebral white matter on MRI','An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.'),('HP:0040330','Confluent hyperintensity of cerebral white matter on MRI','Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.'),('HP:0040331','Focal hypointensity of cerebral white matter on MRI',''),('HP:0040332','Multifocal hypointensity of cerebral white matter on MRI',''),('HP:0040333','Confluent hypointensity of cerebral white matter on MRI',''),('HP:0040334','Purulent rhinitis','Chronic rhinitis accompanied by pus formation.'),('HP:0041042','Absent neutrophil lactoferrin','The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.'),('HP:0041043','Neutrophil nuclear clefts','An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.'),('HP:0041044','Low neutrophil alkaline phosphatase','An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.'),('HP:0041045','Increased neutrophil mitochondria','An increased number of mitochondria detected in neutrophils.'),('HP:0041046','Increased neutrophil ribosomes','An increased number of ribosomes detected in neutrophils.'),('HP:0041047','Bladder outlet obstruction','A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).'),('HP:0041048','Decreased expression of GPI-anchored proteins on the cell surface','A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.'),('HP:0041049','Starch intolerance','An inability to digest starch.'),('HP:0041050','Renal tubular cyst','Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.'),('HP:0041051','Ageusia','A rare condition that is characterized by a complete loss of taste function of the tongue.'),('HP:0045001','Abnormal ossification of the trapezium',''),('HP:0045002','Absent ossification of the trapezium',''),('HP:0045003','Abnormal ossification of the scaphoid',''),('HP:0045004','Abnormal ossification of the trapezoid bone',''),('HP:0045005','Neural tube defect','A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.'),('HP:0045006','Aplasia of lymphatic vessels','Aplasia (absence) of the lymphatic vessels.'),('HP:0045007','Abnormality of the substantia nigra',''),('HP:0045008','Abnormal shape of the radius',''),('HP:0045009','Abnormal morphology of the radius',''),('HP:0045010','Abnormality of peripheral nerves',''),('HP:0045011','Decreased urine bicarbonate concentration','Abnormally decreased concentration of hydrogencarbonate in the urine.'),('HP:0045012','Decreased urinary catecholamine concentration',''),('HP:0045013','obsolete Decreased urinary glucose concentration',''),('HP:0045014','Hypolipidemia',''),('HP:0045016','obsolete Elevated serum long-chain fatty acids',''),('HP:0045017','Congenital malformation of the left heart','Defect or defects of the morphogenesis of the left heart identifiable at birth.'),('HP:0045018','Partial duplication of eyebrows',''),('HP:0045025','Narrow palpebral fissure','Reduction in the vertical distance between the upper and lower eyelids.'),('HP:0045026','Abnormality of the mediastinum',''),('HP:0045027','Abnormality of the thoracic cavity',''),('HP:0045028','Microlissencephaly','Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.'),('HP:0045029','Eosinophilic fasciitis','Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.'),('HP:0045034','Elevated urinary aminoisobutyric acid','An increased amount of 3-aminoisobutyric acid in the urine.'),('HP:0045035','Decreased urinary copper concentration',''),('HP:0045036','Abnormal urinary copper concentration',''),('HP:0045037','Abnormality of jaw muscles',''),('HP:0045038','Gastric lymphoma','Lymphoma that originates in the stomach itself.'),('HP:0045039','Osteolysis involving bones of the upper limbs',''),('HP:0045040','Abnormal lactate dehydrogenase level','A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.'),('HP:0045041','Reduced lactate dehydrogenase B level','A decreased or reduced level of the enzyme lactate dehydrogenase in serum.'),('HP:0045042','Decreased serum complement C4','A reduced level of the complement component C4 in the circulation.'),('HP:0045043','Decreased serum complement C4a','A reduced level of the complement component C4a in circulation.'),('HP:0045044','Decreased serum complement C4b','A reduced level of the complement component C4b in circulation.'),('HP:0045045','Elevated plasma acylcarnitine levels',''),('HP:0045046','Reduced insulin like growth factor binding protein acid labile subunit level','Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits.'),('HP:0045047','HbS hemoglobin','Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.'),('HP:0045048','Increased HbA2 hemoglobin','An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.'),('HP:0045049','Abnormal DLCO','An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.'),('HP:0045050','Increased DLCO','Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.'),('HP:0045051','Decreased DLCO','Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.'),('HP:0045052','Abnormality of the brachial nerve plexus','Any abnormality of the brachial nerve plexus.'),('HP:0045053','Abnormality of the lumbosacral nerve plexus','Any abnormality of the lumbosacral nerve plexus.'),('HP:0045054','Brachial plexus neuropathy',''),('HP:0045055','Tiger tail banding','An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.'),('HP:0045056','Abnormal levels of alpha-fetoprotein',''),('HP:0045057','Decreased levels of alpha-fetoprotein','A decrease in the concentration of alpha-fetoprotein in the blood circulation.'),('HP:0045058','Abnormality of the testis size','An anomaly of the size of the testicle (the male gonad).'),('HP:0045059','Hyperkeratotic papule','A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).'),('HP:0045060','Aplasia/hypoplasia involving bones of the extremities',''),('HP:0045061','Decreased carnitine level in liver',''),('HP:0045063','Increased PIVKA-II','Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.'),('HP:0045073','Serositis','Inflammation in any serous cavity.'),('HP:0045074','Thin eyebrow','Decreased diameter of eyebrow hairs.'),('HP:0045075','Sparse eyebrow','Decreased density/number of eyebrow hairs.'),('HP:0045079','Distal femoral metaphyseal irregularity','Irregularity of the normally smooth surface of the distal metaphysis of the femur.'),('HP:0045080','Decreased proportion of CD3-positive T cells','Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.'),('HP:0045081','Abnormality of body mass index','Anomaly in the weight-to-height squared ratio, calculated by dividing the individual`s weight in kilograms by the square of the individual`s height in meters and used as an indicator of obesity and underweight compared to averages.'),('HP:0045082','Decreased body mass index','Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual`s weight in kilograms by the square of the individual`s height in meters and used as an indicator of underweight compared to averages.'),('HP:0045083','obsolete Increased body mass index',''),('HP:0045084','Limb myoclonus',''),('HP:0045085','Atrophy of masseter muscle',''),('HP:0045086','Knee joint hypermobility','The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).'),('HP:0045087','Hip joint hypermobility',''),('HP:0045088','Clinical relevance','Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis.'),('HP:0045089','Distinctive finding','In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential.'),('HP:0045090','Minor finding','In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential.'),('HP:0046502','Anorgasmia','Inability of individual to reach orgasm.'),('HP:0046503','Increased libido','Elevated sexual desire.'),('HP:0046504','Decreased libido','Decreased sexual desire.'),('HP:0046505','Hand pain','An unpleasant sensation characterized by physical discomfort localized to the hand.'),('HP:0046506','Pain in head and neck region',''),('HP:0046507','Bradypnea','Bradypnea is referring to breathing that is abnormally slow.'),('HP:0046508','Abnormal cervical spine morphology','Any morphological abnormality of the cervical vertebral column.'),('HP:0100000','Early onset of sexual maturation','An early onset of puberty, in this case early does not refer to precocious.'),('HP:0100001','Malignant mesothelioma','Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body`s internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.'),('HP:0100002','Pleural mesothelioma','A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.'),('HP:0100003','Peritoneal mesothelioma','A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.'),('HP:0100004','Pericardial mesothelioma','A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).'),('HP:0100005','Testicular mesothelioma','A Malignant mesothelioma of the testis.'),('HP:0100006','Neoplasm of the central nervous system','A neoplasm of the central nervous system.'),('HP:0100007','Neoplasm of the peripheral nervous system','A benign or malignant neoplasm (tumour) of the peripheral nervous system.'),('HP:0100008','Schwannoma','A benign nerve sheath tumor composed of Schwann cells.'),('HP:0100009','Intracranial meningioma',''),('HP:0100010','Spinal meningioma',''),('HP:0100011','Scleral schwannoma',''),('HP:0100012','Neoplasm of the eye','A tumor (abnormal growth of tissue) of the eye.'),('HP:0100013','Neoplasm of the breast','A tumor (abnormal growth of tissue) of the breast.'),('HP:0100014','Epiretinal membrane','An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.'),('HP:0100015','Stahl ear','The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.'),('HP:0100016','Abnormality of mesentery morphology','Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).'),('HP:0100017','Capsular cataract','A cataract that affects the capsule of the lens.'),('HP:0100018','Nuclear cataract','A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.'),('HP:0100019','Cortical cataract','A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.'),('HP:0100020','Posterior capsular cataract','A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.'),('HP:0100021','Cerebral palsy','Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.'),('HP:0100022','Abnormality of movement','An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.'),('HP:0100023','Recurrent hand flapping','A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.'),('HP:0100024','Conspicuously happy disposition','An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.'),('HP:0100025','Overfriendliness','A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.'),('HP:0100026','Arteriovenous malformation','An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.'),('HP:0100027','Recurrent pancreatitis','A recurrent form of pancreatitis.'),('HP:0100028','Ectopic thyroid','Mislocalised thyroid gland.'),('HP:0100029','Lingual thyroid','An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.'),('HP:0100030','Accessory ectopic thyroid tissue','Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.'),('HP:0100031','Neoplasm of the thyroid gland','A tumor (abnormal growth of tissue) of the thyroid gland.'),('HP:0100033','Tics','Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.'),('HP:0100034','Motor tics','Movement-based tics affecting discrete muscle groups.'),('HP:0100035','Phonic tics','Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.'),('HP:0100036','Pseudo-fractures','A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.'),('HP:0100037','Abnormality of the scalp hair','An abnormality of the hair of head.'),('HP:0100038','Slow-growing scalp hair','Scalp hair whose growth is slower than normal.'),('HP:0100039','Thickened cortex of bones','An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.'),('HP:0100040','Broad 2nd toe','A broad appearance of the second toe.'),('HP:0100041','Broad 3rd toe','A broad appearance of the third toe.'),('HP:0100042','Broad 4th toe','A broad appearance of the fourth toe.'),('HP:0100043','Broad 5th toe','A broad appearance of the fifth toe.'),('HP:0100044','Absent epiphyses of the 2nd toe',''),('HP:0100045','Bracket epiphyses of the 2nd toe',''),('HP:0100046','Cone-shaped epiphyses of the 2nd toe',''),('HP:0100047','Enlarged epiphyses of the 2nd toe',''),('HP:0100048','Fragmentation of the epiphyses of the 2nd toe',''),('HP:0100049','Irregular epiphyses of the 2nd toe',''),('HP:0100050','Ivory epiphyses of the 2nd toe','Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100051','Pseudoepiphyses of the 2nd toe',''),('HP:0100052','Small epiphyses of the 2nd toe',''),('HP:0100053','Stippling of the epiphyses of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.'),('HP:0100054','Triangular epiphyses of the 2nd toe',''),('HP:0100055','Absent epiphyses of the 3rd toe',''),('HP:0100056','Bracket epiphyses of the 3rd toe',''),('HP:0100057','Cone-shaped epiphyses of the 3rd toe',''),('HP:0100058','Enlarged epiphyses of the 3rd toe',''),('HP:0100059','Fragmentation of the epiphyses of the 3rd toe',''),('HP:0100060','Irregular epiphyses of the 3rd toe',''),('HP:0100061','Ivory epiphyses of the 3rd toe','Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100062','Pseudoepiphyses of the 3rd toe',''),('HP:0100063','Small epiphyses of the 3rd toe',''),('HP:0100064','Stippling of the epiphyses of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.'),('HP:0100065','Triangular epiphyses of the 3rd toe',''),('HP:0100066','Absent epiphyses of the 4th toe',''),('HP:0100067','Bracket epiphyses of the 4th toe',''),('HP:0100068','Cone-shaped epiphyses of the 4th toe',''),('HP:0100069','Enlarged epiphyses of the 4th toe',''),('HP:0100070','Fragmentation of the epiphyses of the 4th toe',''),('HP:0100071','Irregular epiphyses of the 4th toe',''),('HP:0100072','Ivory epiphyses of the 4th toe','Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100073','Pseudoepiphyses of the 4th toe',''),('HP:0100074','Small epiphyses of the 4th toe',''),('HP:0100075','Stippling of the epiphyses of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.'),('HP:0100076','Triangular epiphyses of the 4th toe',''),('HP:0100077','Absent epiphyses of the 5th toe',''),('HP:0100078','Bracket epiphyses of the 5th toe',''),('HP:0100079','Cone-shaped epiphyses of the 5th toe',''),('HP:0100080','Enlarged epiphyses of the 5th toe',''),('HP:0100081','Fragmentation of the epiphyses of the 5th toe',''),('HP:0100082','Irregular epiphyses of the 5th toe',''),('HP:0100083','Ivory epiphyses of the 5th toe','Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.'),('HP:0100084','Pseudoepiphyses of the 5th toe',''),('HP:0100085','Small epiphyses of the 5th toe',''),('HP:0100086','Stippling of the epiphyses of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.'),('HP:0100087','Triangular epiphyses of the 5th toe',''),('HP:0100088','Abnormality of the epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100089','Abnormality of the epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100090','Abnormality of the epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100091','Abnormality of the epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100092','Abnormality of the epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100093','Abnormality of the epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100094','Abnormality of the epiphysis of the distal phalanx of the 4th toe',''),('HP:0100095','Abnormality of the epiphysis of the middle phalanx of the 4th toe',''),('HP:0100096','Abnormality of the epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100097','Abnormality of the epiphysis of the distal phalanx of the 5th toe',''),('HP:0100098','Abnormality of the epiphysis of the middle phalanx of the 5th toe',''),('HP:0100099','Abnormality of the epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100100','Absent epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100101','Bracket epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100102','Cone-shaped epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100103','Enlarged epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100104','Fragmentation of the epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100105','Irregular epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100106','Ivory epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100107','Pseudoepiphysis of the distal phalanx of the 2nd toe',''),('HP:0100108','Small epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100109','Stippling of the epiphysis of the distal phalanx of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.'),('HP:0100110','Triangular epiphysis of the distal phalanx of the 2nd toe',''),('HP:0100111','Absent epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100112','Bracket epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100113','Cone-shaped epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100114','Enlarged epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100115','Fragmentation of the epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100116','Irregular epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100117','Ivory epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100118','Pseudoepiphysis of the middle phalanx of the 2nd toe',''),('HP:0100119','Small epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100120','Stippling of the epiphysis of the middle phalanx of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.'),('HP:0100121','Triangular epiphysis of the middle phalanx of the 2nd toe',''),('HP:0100122','Absent epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100123','Bracket epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100124','Cone-shaped epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100125','Enlarged epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100126','Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100127','Irregular epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100128','Ivory epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100129','Pseudoepiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100130','Small epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100131','Stippling of the epiphysis of the proximal phalanx of the 2nd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.'),('HP:0100132','Triangular epiphysis of the proximal phalanx of the 2nd toe',''),('HP:0100133','Abnormality of the pubic hair','Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.'),('HP:0100134','Abnormality of the axillary hair','Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.'),('HP:0100135','Absent epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100136','Bracket epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100137','Cone-shaped epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100138','Enlarged epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100139','Fragmentation of the epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100140','Irregular epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100141','Ivory epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100142','Pseudoepiphysis of the distal phalanx of the 3rd toe',''),('HP:0100143','Small epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100144','Stippling of the epiphysis of the distal phalanx of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.'),('HP:0100145','Triangular epiphysis of the distal phalanx of the 3rd toe',''),('HP:0100146','Absent epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100147','Bracket epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100148','Cone-shaped epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100149','Enlarged epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100150','Fragmentation of the epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100151','Irregular epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100152','Ivory epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100153','Pseudoepiphysis of the middle phalanx of the 3rd toe',''),('HP:0100154','Small epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100155','Stippling of the epiphysis of the middle phalanx of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.'),('HP:0100156','Triangular epiphysis of the middle phalanx of the 3rd toe',''),('HP:0100157','Absent epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100158','Bracket epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100159','Cone-shaped epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100160','Enlarged epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100161','Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100162','Irregular epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100163','Ivory epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100164','Pseudoepiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100165','Small epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100166','Stippling of the epiphysis of the proximal phalanx of the 3rd toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.'),('HP:0100167','Triangular epiphysis of the proximal phalanx of the 3rd toe',''),('HP:0100168','Fragmented epiphyses','Fragmented appearance of the epiphyses.'),('HP:0100169','Absent epiphysis of the distal phalanx of the 4th toe',''),('HP:0100170','Bracket epiphysis of the distal phalanx of the 4th toe',''),('HP:0100171','Cone-shaped epiphysis of the distal phalanx of the 4th toe',''),('HP:0100172','Enlarged epiphysis of the distal phalanx of the 4th toe',''),('HP:0100173','Fragmentation of the epiphysis of the distal phalanx of the 4th toe',''),('HP:0100174','Irregular epiphysis of the distal phalanx of the 4th toe',''),('HP:0100175','Ivory epiphysis of the distal phalanx of the 4th toe',''),('HP:0100176','Pseudoepiphysis of the distal phalanx of the 4th toe',''),('HP:0100177','Small epiphysis of the distal phalanx of the 4th toe',''),('HP:0100178','Stippling of the epiphysis of the distal phalanx of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.'),('HP:0100179','Triangular epiphysis of the distal phalanx of the 4th toe',''),('HP:0100180','Absent epiphysis of the middle phalanx of the 4th toe',''),('HP:0100181','Bracket epiphysis of the middle phalanx of the 4th toe',''),('HP:0100182','Cone-shaped epiphysis of the middle phalanx of the 4th toe',''),('HP:0100183','Enlarged epiphysis of the middle phalanx of the 4th toe',''),('HP:0100184','Fragmentation of the epiphysis of the middle phalanx of the 4th toe',''),('HP:0100185','Irregular epiphysis of the middle phalanx of the 4th toe',''),('HP:0100186','Ivory epiphysis of the middle phalanx of the 4th toe',''),('HP:0100187','Pseudoepiphysis of the middle phalanx of the 4th toe',''),('HP:0100188','Small epiphysis of the middle phalanx of the 4th toe',''),('HP:0100189','Stippling of the epiphysis of the middle phalanx of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.'),('HP:0100190','Triangular epiphysis of the middle phalanx of the 4th toe',''),('HP:0100191','Absent epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100192','Bracket epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100193','Cone-shaped epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100194','Enlarged epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100195','Fragmentation of the epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100196','Irregular epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100197','Ivory epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100198','Pseudoepiphysis of the proximal phalanx of the 4th toe',''),('HP:0100199','Small epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100200','Stippling of the epiphysis of the proximal phalanx of the 4th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.'),('HP:0100201','Triangular epiphysis of the proximal phalanx of the 4th toe',''),('HP:0100202','Absent epiphysis of the distal phalanx of the 5th toe',''),('HP:0100203','Bracket epiphysis of the distal phalanx of the 5th toe',''),('HP:0100204','Cone-shaped epiphysis of the distal phalanx of the 5th toe',''),('HP:0100205','Enlarged epiphysis of the distal phalanx of the 5th toe',''),('HP:0100206','Fragmentation of the epiphysis of the distal phalanx of the 5th toe',''),('HP:0100207','Irregular epiphysis of the distal phalanx of the 5th toe',''),('HP:0100208','Ivory epiphysis of the distal phalanx of the 5th toe',''),('HP:0100209','Pseudoepiphysis of the distal phalanx of the 5th toe',''),('HP:0100210','Small epiphysis of the distal phalanx of the 5th toe',''),('HP:0100211','Stippling of the epiphysis of the distal phalanx of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.'),('HP:0100212','Triangular epiphysis of the distal phalanx of the 5th toe',''),('HP:0100213','Absent epiphysis of the middle phalanx of the 5th toe',''),('HP:0100214','Bracket epiphysis of the middle phalanx of the 5th toe',''),('HP:0100215','Cone-shaped epiphysis of the middle phalanx of the 5th toe',''),('HP:0100216','Enlarged epiphysis of the middle phalanx of the 5th toe',''),('HP:0100217','Fragmentation of the epiphysis of the middle phalanx of the 5th toe',''),('HP:0100218','Irregular epiphysis of the middle phalanx of the 5th toe',''),('HP:0100219','Ivory epiphysis of the middle phalanx of the 5th toe',''),('HP:0100220','Pseudoepiphysis of the middle phalanx of the 5th toe',''),('HP:0100221','Small epiphysis of the middle phalanx of the 5th toe',''),('HP:0100222','Stippling of the epiphysis of the middle phalanx of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.'),('HP:0100223','Triangular epiphysis of the middle phalanx of the 5th toe',''),('HP:0100224','Absent epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100225','Bracket epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100226','Cone-shaped epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100227','Enlarged epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100228','Fragmentation of the epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100229','Irregular epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100230','Ivory epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100231','Pseudoepiphysis of the proximal phalanx of the 5th toe',''),('HP:0100232','Small epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100233','Stippling of the epiphysis of the proximal phalanx of the 5th toe','The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.'),('HP:0100234','Triangular epiphysis of the proximal phalanx of the 5th toe',''),('HP:0100235','Synostosis involving bones of the toes',''),('HP:0100237','Proximal foot symphalangism',''),('HP:0100238','Synostosis involving bones of the upper limbs','An abnormal union between bones or parts of bones of the upper limbs.'),('HP:0100240','Synostosis of joints','The abnormal fusion of neighboring bones across a joint.'),('HP:0100241','Ectopic respiratory mucosa','Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.'),('HP:0100242','Sarcoma','A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.'),('HP:0100243','Leiomyosarcoma','A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.'),('HP:0100244','Fibrosarcoma','A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.'),('HP:0100245','Desmoid tumors','Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.'),('HP:0100246','Osteoma','Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.'),('HP:0100247','Recurrent singultus','A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one`s breath while sobbing. The hiccup is an involuntary action involving a reflex arc.'),('HP:0100248','Hemiballismus','Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.'),('HP:0100249','Calcification of muscles','Deposition of calcium salts in muscle tissue.'),('HP:0100250','Meningeal calcification','Calcium deposition affecting the Meninges.'),('HP:0100251','Multiple central nervous system lipomas','The presence of mulitple lipomas located in the central nervous system.'),('HP:0100252','Diaphyseal dysplasia',''),('HP:0100253','Abnormality of the medullary cavity of the long bones','An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.'),('HP:0100254','Stenosis of the medullary cavity of the long bones',''),('HP:0100255','Metaphyseal dysplasia','The presence of dysplastic regions in metaphyseal regions.'),('HP:0100256','Senile plaques','Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.'),('HP:0100257','Ectrodactyly','A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.'),('HP:0100258','Preaxial polydactyly','A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.'),('HP:0100259','Postaxial polydactyly','A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.'),('HP:0100260','Mesoaxial polydactyly','The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.'),('HP:0100261','Abnormal tendon morphology','An abnormality of the structure or form of the tendons, also often called sinews.'),('HP:0100262','Synostosis involving digits',''),('HP:0100263','Distal symphalangism',''),('HP:0100264','Proximal symphalangism',''),('HP:0100265','Synostosis of metacarpals/metatarsals',''),('HP:0100266','Synostosis of carpals/tarsals','The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.'),('HP:0100267','Lip pit','A depression located on a lip.'),('HP:0100268','Upper lip pit','Depression located on the vermilion of the upper lip, usually paramedian.'),('HP:0100269','Paramedian lip pit','Depression located paramedially on the vermilion of a lip.'),('HP:0100270','Abnormality of dorsoventral patterning of the limbs','An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.'),('HP:0100271','Hyponasal speech','Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.'),('HP:0100272','Branchial sinus','A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.'),('HP:0100273','Neoplasm of the colon',''),('HP:0100274','Gustatory lacrimation','Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.'),('HP:0100275','Diffuse cerebellar atrophy','Diffuse unlocalised atrophy affecting the cerebellum.'),('HP:0100276','Skin pit','A small, skin-lined tract that leads from the surface to deep within the tissues.'),('HP:0100277','Periauricular skin pits','Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.'),('HP:0100279','Ulcerative colitis','A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn`s disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.'),('HP:0100280','Crohn`s disease','A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn`s disease is thought to be an autoimmune disease, in which the body`s immune system attacks the gastrointestinal tract, causing inflammation.'),('HP:0100281','Chronic colitis','A chronic inflammatory disease of the large intestine (colon, cecum and rectum).'),('HP:0100282','Acute colitis','An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).'),('HP:0100283','EMG: continuous motor unit activity at rest','Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.'),('HP:0100284','EMG: myotonic discharges','High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.'),('HP:0100285','EMG: impaired neuromuscular transmission','An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).'),('HP:0100287','EMG: slow motor conduction','The presence of reduced conduction velocity of motor nerves on electromyography.'),('HP:0100288','EMG: myokymic discharges','The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.'),('HP:0100289','Abnormality of pattern reversal visual evoked potentials',''),('HP:0100290','Abnormality of peripheral somatosensory evoked potentials',''),('HP:0100291','Abnormality of central somatosensory evoked potentials',''),('HP:0100292','Amyloidosis of peripheral nerves','The presence of amyloid deposition in the nerves of the peripheral nervous system.'),('HP:0100293','Muscle fiber hypertrophy',''),('HP:0100295','Muscle fiber atrophy',''),('HP:0100296','Perifascicular muscle fiber atrophy',''),('HP:0100297','Increased endomysial connective tissue',''),('HP:0100298','Motheaten muscle fibers',''),('HP:0100299','Muscle fiber inclusion bodies',''),('HP:0100300','Desmin bodies',''),('HP:0100301','Muscle fiber tubular inclusions','Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.'),('HP:0100302','Muscle fiber tubuloreticular inclusions',''),('HP:0100303','Muscle fiber cytoplasmatic inclusion bodies','The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.'),('HP:0100304','Muscle fiber intranuclear inclusion bodies','The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.'),('HP:0100305','Ring fibers','Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.'),('HP:0100306','Muscle fiber hyaline bodies',''),('HP:0100307','Cerebellar hemisphere hypoplasia',''),('HP:0100308','Cerebral cortical hemiatrophy','Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.'),('HP:0100309','Subdural hemorrhage','Hemorrhage occurring between the dura mater and the arachnoid mater.'),('HP:0100310','Epidural hemorrhage','Hemorrhage occurring between the dura mater and the skull.'),('HP:0100311','Cerebral ventricular adhesions',''),('HP:0100312','Cerebral germinoma','The presence of a germ cell tumor of the cerebrum.'),('HP:0100313','Cerebral granulomatosis','Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.'),('HP:0100314','Cerebral inclusion bodies','Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.'),('HP:0100315','Lewy bodies',''),('HP:0100316','Hirano bodies','Intracellular aggregates of actin and actin-associated proteins within nerve cells.'),('HP:0100317','Argyrophilic inclusion bodies','Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.'),('HP:0100318','Lafora bodies','An intraneuronal inclusion body composed of acid mucopolysaccharides.'),('HP:0100319','Cerebral hyaline bodies','Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.'),('HP:0100320','Rosenthal fibers','Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.'),('HP:0100321','Abnormality of the dentate nucleus','An abnormality of the dentate nucleus.'),('HP:0100322','Aplasia of the pyramidal tract',''),('HP:0100323','Juvenile aseptic necrosis','Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.'),('HP:0100324','Scleroderma','A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.'),('HP:0100326','Immunologic hypersensitivity','Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.'),('HP:0100327','Cow milk allergy','Hypersensitivity in form of an adverse immune reaction against cow milk protein.'),('HP:0100328','Carpometacarpal synostosis','Fusion involving carpal and metacarpal bones.'),('HP:0100329','Tarsometatarsal synostosis',''),('HP:0100333','Unilateral cleft lip','A non-midline cleft of the upper lip on one side only.'),('HP:0100334','Unilateral cleft palate',''),('HP:0100335','Non-midline cleft lip','Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.'),('HP:0100336','Bilateral cleft lip','A non-midline cleft of the upper lip on the left and right sides.'),('HP:0100337','Bilateral cleft palate','Nonmidline cleft palate on the left and right sides.'),('HP:0100338','Non-midline cleft palate',''),('HP:0100339','Abnormality of the os naviculare pedis',''),('HP:0100340','Fibular deviation of the 4th toe',''),('HP:0100341','Tibial deviation of the 4th toe',''),('HP:0100342','Fibular deviation of the 3rd toe',''),('HP:0100343','Tibial deviation of the 3rd toe',''),('HP:0100344','Fibular deviation of the 2nd toe',''),('HP:0100345','Tibial deviation of the 2nd toe',''),('HP:0100346','Fibular deviation of the 5th toe',''),('HP:0100347','Tibial deviation of the 5th toe',''),('HP:0100348','Contracture of the proximal interphalangeal joint of the 2nd toe','The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.'),('HP:0100349','Contracture of the proximal interphalangeal joint of the 3rd toe','The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.'),('HP:0100350','Contracture of the proximal interphalangeal joint of the 4th toe','The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.'),('HP:0100351','Contractures of the proximal interphalangeal joint of the 5th toe','The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.'),('HP:0100352','Contracture of the distal interphalangeal joint of the 2nd toe','The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.'),('HP:0100353','Contracture of the distal interphalangeal joint of the 3rd toe','The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.'),('HP:0100354','Contracture of the distal interphalangeal joint of the 4th toe','The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.'),('HP:0100355','Contractures of the distal interphalangeal joint of the 5th toe','The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.'),('HP:0100356','Contracture of the metatarsophalangeal joint of the 2nd toe','The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.'),('HP:0100357','Contracture of the metatarsophalangeal joint of the 3rd toe','The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.'),('HP:0100358','Contracture of the metatarsophalangeal joint of the 4th toe','The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.'),('HP:0100359','Contracture of the metatarsophalangeal joint of the 5th toe','The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.'),('HP:0100360','Contractures of the joints of the upper limbs',''),('HP:0100362','Aplasia of the phalanges of the 3rd toe',''),('HP:0100363','Aplasia of the phalanges of the 4th toe',''),('HP:0100364','Aplasia of the phalanges of the 5th toe',''),('HP:0100366','Short phalanx of the 3rd toe','Developmental hypoplasia of the phalanx of third toe.'),('HP:0100367','Short phalanx of the 4th toe','Developmental hypoplasia of one or more phalanx of fourth toe.'),('HP:0100368','Short phalanx of the 5th toe','Developmental hypoplasia of one or more phalanx of little toe.'),('HP:0100369','Aplasia/Hypoplasia of the distal phalanx of the 3rd toe',''),('HP:0100370','Aplasia/Hypoplasia of the distal phalanx of the 4th toe',''),('HP:0100371','Aplasia/Hypoplasia of the distal phalanx of the 5th toe',''),('HP:0100372','Aplasia/Hypoplasia of the middle phalanx of the 3rd toe',''),('HP:0100373','Aplasia/Hypoplasia of the middle phalanx of the 4th toe',''),('HP:0100374','Aplasia/Hypoplasia of the middle phalanx of the 5th toe',''),('HP:0100375','Aplasia/hypoplasia of the proximal phalanx of the 3rd toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe.'),('HP:0100376','Aplasia/hypoplasia of the proximal phalanx of the 4th toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe.'),('HP:0100377','Aplasia/hypoplasia of the proximal phalanx of the 5th toe','Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe.'),('HP:0100378','Absent distal phalanx of the 3rd toe','Developmental aplasia of the distal phalanx of third toe.'),('HP:0100379','Aplasia of the distal phalanx of the 4th toe',''),('HP:0100380','Aplasia of the distal phalanx of the 5th toe',''),('HP:0100381','Absent middle phalanx of the 3rd toe','Developmental aplasia of the middle phalanx of third toe.'),('HP:0100382','Aplasia of the middle phalanx of the 4th toe',''),('HP:0100383','Aplasia of the middle phalanx of the 5th toe',''),('HP:0100384','Absent proximal phalanx of the 3rd toe','Absence of proximal phalanx of third toe, owing to a congenital defect of development.'),('HP:0100385','Aplasia of the proximal phalanx of the 4th toe',''),('HP:0100386','Aplasia of the proximal phalanx of the 5th toe',''),('HP:0100387','Aplasia of the middle phalanges of the toes',''),('HP:0100388','Aplasia of the proximal phalanges of the toes',''),('HP:0100389','Short distal phalanx of the 3rd toe','Developmental hypoplasia of the distal phalanx of third toe.'),('HP:0100390','Short distal phalanx of the 4th toe','Developmental hypoplasia of the distal phalanx of fourth toe.'),('HP:0100391','Short distal phalanx of the 5th toe','Developmental hypoplasia of the distal phalanx of little toe.'),('HP:0100392','Short middle phalanx of the 3rd toe','Developmental hypoplasia of the middle phalanx of third toe.'),('HP:0100393','Short middle phalanx of the 4th toe','Developmental hypoplasia of the middle phalanx of fourth toe.'),('HP:0100394','Short middle phalanx of the 5th toe','Developmental hypoplasia of the middle phalanx of the 5th toe.'),('HP:0100395','Short proximal phalanx of the 3rd toe','Abnormal reduction in length of proximal phalanx of third toe.'),('HP:0100396','Short proximal phalanx of the 4th toe','Developmental hypoplasia of the proximal phalanx of fourth toe.'),('HP:0100397','Short proximal phalanx of the 5th toe','Developmental hypoplasia of the proximal phalanx of fifth toe.'),('HP:0100398','Duplication of the distal phalanx of the 3rd toe','Partial or complete duplication of distal phalanx of third toe.'),('HP:0100399','Duplication of the distal phalanx of the 4th toe','Partial or complete duplication of the distal phalanx of fourth toe.'),('HP:0100400','Duplication of the distal phalanx of the 5th toe','Partial or complete duplication of the distal phalanx of little toe.'),('HP:0100401','Duplication of the middle phalanx of the 3rd toe','Partial or complete duplication of middle phalanx of third toe.'),('HP:0100402','Duplication of the middle phalanx of the 4th toe','Partial or complete duplication of middle phalanx of fourth toe.'),('HP:0100403','Duplication of the middle phalanx of the 5th toe','Partial or complete duplication of the middle phalanx of the 5th toe.'),('HP:0100404','Duplication of the proximal phalanx of the 3rd toe','Partial or complete duplication of proximal phalanx of third toe.'),('HP:0100405','Duplication of the proximal phalanx of the 4th toe','Partial or complete duplication of the proximal phalanx of fourth toe.'),('HP:0100406','Duplication of the proximal phalanx of the 5th toe','Partial or complete duplication of the proximal phalanx of fifth toe.'),('HP:0100407','Complete duplication of the distal phalanx of the 3rd toe','Complete duplication of distal phalanx of third toe.'),('HP:0100408','Complete duplication of the distal phalanx of the 4th toe','Complete duplication of the distal phalanx of fourth toe.'),('HP:0100409','Complete duplication of the distal phalanx of the 5th toe','Complete duplication of the distal phalanx of little toe.'),('HP:0100410','Complete duplication of the middle phalanx of the 3rd toe','Complete duplication of middle phalanx of third toe.'),('HP:0100411','Complete duplication of the middle phalanx of the 4th toe','Complete duplication of middle phalanx of fourth toe.'),('HP:0100412','Complete duplication of the middle phalanx of the 5th toe','Complete duplication of the middle phalanx of the 5th toe.'),('HP:0100413','Complete duplication of the proximal phalanx of the 3rd toe','Complete duplication of proximal phalanx of third toe.'),('HP:0100414','Complete duplication of the proximal phalanx of the 4th toe',''),('HP:0100415','Complete duplication of the proximal phalanx of the 5th toe','Complete duplication of the proximal phalanx of fifth toe.'),('HP:0100416','Partial duplication of the distal phalanx of the 3rd toe','Partial duplication of distal phalanx of third toe.'),('HP:0100417','Partial duplication of the distal phalanx of the 4th toe','Partial duplication of the distal phalanx of fourth toe.'),('HP:0100418','Partial duplication of the distal phalanx of the 5th toe','Partial duplication of the distal phalanx of little toe.'),('HP:0100419','Partial duplication of the middle phalanx of the 3rd toe','Partial duplication of middle phalanx of third toe.'),('HP:0100420','Partial duplication of the middle phalanx of the 4th toe','Partial duplication of middle phalanx of fourth toe.'),('HP:0100421','Partial duplication of the middle phalanx of the 5th toe','Partial duplication of the middle phalanx of the 5th toe.'),('HP:0100422','Partial duplication of the proximal phalanx of the 3rd toe','Partial duplication of proximal phalanx of third toe.'),('HP:0100423','Partial duplication of the proximal phalanx of the 4th toe',''),('HP:0100424','Partial duplication of the proximal phalanx of the 5th toe','Partial duplication of the proximal phalanx of fifth toe.'),('HP:0100425','Broad middle phalanx of the 3rd toe',''),('HP:0100426','Broad middle phalanx of the 4th toe',''),('HP:0100427','Broad middle phalanx of the 5th toe',''),('HP:0100428','Broad proximal phalanx of the 3rd toe',''),('HP:0100429','Broad proximal phalanx of the 4th toe',''),('HP:0100430','Broad proximal phalanx of the 5th toe',''),('HP:0100431','Broad distal phalanx of the 3rd toe',''),('HP:0100432','Broad distal phalanx of the 4th toe',''),('HP:0100433','Broad distal phalanx of the 5th toe',''),('HP:0100434','Bullet-shaped middle phalanx of the 3rd toe','An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100435','Bullet-shaped middle phalanx of the 4th toe','An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100436','Bullet-shaped middle phalanx of the 5th toe','An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100437','Bullet-shaped proximal phalanx of the 3rd toe','An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100438','Bullet-shaped proximal phalanx of the 4th toe','An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100439','Bullet-shaped proximal phalanx of the 5th toe','An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100440','Bullet-shaped distal phalanx of the 3rd toe','An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100441','Bullet-shaped distal phalanx of the 4th toe','An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100442','Bullet-shaped distal phalanx of the 5th toe','An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.'),('HP:0100443','Curved middle phalanx of the 3rd toe','A deviation from the normal straight form of the middle phalanx of the third toe.'),('HP:0100444','Curved middle phalanx of the 4th toe','A deviation from the normal straight form of the middle phalanx of the fourth toe.'),('HP:0100445','Curved middle phalanx of the 5th toe','A deviation from the normal straight form of the middle phalanx of the fifth toe.'),('HP:0100446','Curved proximal phalanx of the 3rd toe','A deviation from the normal straight form of the proximal phalanx of the third toe.'),('HP:0100447','Curved proximal phalanx of the 4th toe','A deviation from the normal straight form of the proximal phalanx of the fourth toe.'),('HP:0100448','Curved proximal phalanx of the 5th toe','A deviation from the normal straight form of the proximal phalanx of the fifth toe.'),('HP:0100449','Curved distal phalanx of the 3rd toe','A deviation from the normal straight form of the distal phalanx of the third toe.'),('HP:0100450','Curved distal phalanx of the 4th toe','A deviation from the normal straight form of the distal phalanx of the fourth toe.'),('HP:0100451','Curved distal phalanx of the 5th toe','A deviation from the normal straight form of the distal phalanx of the fifth toe.'),('HP:0100452','Osteolytic defects of the middle phalanx of the 3rd toe',''),('HP:0100453','Osteolytic defects of the middle phalanx of the 4th toe',''),('HP:0100454','Osteolytic defects of the middle phalanx of the 5th toe',''),('HP:0100455','Osteolytic defects of the proximal phalanx of the 3rd toe',''),('HP:0100456','Osteolytic defects of the proximal phalanx of the 4th toe',''),('HP:0100457','Osteolytic defects of the proximal phalanx of the 5th toe',''),('HP:0100458','Osteolytic defects of the distal phalanx of the 3rd toe',''),('HP:0100459','Osteolytic defects of the distal phalanx of the 4th toe',''),('HP:0100460','Osteolytic defects of the distal phalanx of the 5th toe',''),('HP:0100461','Patchy sclerosis of the middle phalanx of the 3rd toe',''),('HP:0100462','Patchy sclerosis of the middle phalanx of the 4th toe','Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100463','Patchy sclerosis of the middle phalanx of the 5th toe','Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100464','Patchy sclerosis of the proximal phalanx of the 3rd toe',''),('HP:0100465','Patchy sclerosis of the proximal phalanx of the 4th toe','Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100466','Patchy sclerosis of the proximal phalanx of the 5th toe','Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100467','Patchy sclerosis of the distal phalanx of the 3rd toe',''),('HP:0100468','Patchy sclerosis of the distal phalanx of the 4th toe','Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100469','Patchy sclerosis of the distal phalanx of the 5th toe','Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.'),('HP:0100470','Symphalangism affecting the middle phalanx of the 3rd toe',''),('HP:0100471','Symphalangism affecting the middle phalanx of the 4th toe',''),('HP:0100472','Symphalangism affecting the middle phalanx of the 5th toe',''),('HP:0100473','Symphalangism affecting the proximal phalanx of the 3rd toe',''),('HP:0100474','Symphalangism affecting the proximal phalanx of the 4th toe',''),('HP:0100475','Symphalangism affecting the proximal phalanx of the 5th toe',''),('HP:0100476','Symphalangism affecting the distal phalanx of the 3rd toe',''),('HP:0100477','Symphalangism affecting the distal phalanx of the 4th toe',''),('HP:0100478','Symphalangism affecting the distal phalanx of the 5th toe',''),('HP:0100480','Proximal/middle symphalangism of 3rd toe','Bony fusion of the middle and proximal phalanges of the 3rd toe.'),('HP:0100481','Proximal/middle symphalangism of 4th toe','Bony fusion of the middle and proximal phalanges of the 4th toe.'),('HP:0100482','Proximal/middle symphalangism of 5th toe','Bony fusion of the middle and proximal phalanges of the 5th toe.'),('HP:0100483','Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal',''),('HP:0100484','Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal',''),('HP:0100485','Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal',''),('HP:0100486','Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal',''),('HP:0100487','Triangular shaped distal phalanx of the 5th toe',''),('HP:0100488','Synostosis of the proximal phalanx of the hallux with the 1st metatarsal',''),('HP:0100489','Proximal/middle symphalangism of 2nd toe','Bony fusion of the middle and proximal phalanges of the 2nd toe.'),('HP:0100490','Camptodactyly of finger','The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.'),('HP:0100491','Abnormality of lower limb joint',''),('HP:0100492','Joint contractures involving the joints of the feet','Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.'),('HP:0100493','Hypoammonemia','A decreased concentration of ammonia in the blood.'),('HP:0100494','Abnormal mast cell morphology','Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.'),('HP:0100495','Mastocytosis','The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.'),('HP:0100496','Abnormality of the vitamin B3 metabolism',''),('HP:0100497','Vitamin B3 deficiency',''),('HP:0100498','Deviation of toes',''),('HP:0100499','Tibial deviation of toes',''),('HP:0100500','Fibular deviation of toes',''),('HP:0100501','Recurrent bronchiolitis','An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.'),('HP:0100502','Vitamin B12 deficiency',''),('HP:0100503','Low levels of vitamin B1','A reduced concentration of vitamin B1.'),('HP:0100504','Low levels of vitamin B2','A reduced concentration of vitamin B2.'),('HP:0100505','Low levels of vitamin B5','A reduced concentration of vitamin B5.'),('HP:0100506','Low levels of vitamin B8','A reduced concentration of vitamin B8.'),('HP:0100507','Reduced blood folate concentration','A reduced circulating concentration of folic acid, which is also known as vitamin B9.'),('HP:0100508','Abnormality of vitamin metabolism','An anomaly in the metabolism of a vitamin.'),('HP:0100509','Abnormality of vitamin C metabolism',''),('HP:0100510','Low levels of vitamin C','A reduced concentration of Vitamin C.'),('HP:0100511','Abnormality of vitamin D metabolism',''),('HP:0100512','Low levels of vitamin D','A reduced concentration of Vitamin D.'),('HP:0100513','Low levels of vitamin E','A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.'),('HP:0100514','Abnormality of vitamin E metabolism',''),('HP:0100515','Pollakisuria','Increased frequency of urination.'),('HP:0100516','Neoplasm of the ureter','The presence of a neoplasm of the ureter.'),('HP:0100517','Neoplasm of the urethra','The presence of a neoplasm of the urethra.'),('HP:0100518','Dysuria','Painful or difficult urination.'),('HP:0100519','Anuria','Absence of urine, clinically classified as below 50ml/day.'),('HP:0100520','Oliguria','Low output of urine, clinically classified as an output below 300-500ml/day.'),('HP:0100521','Neoplasm of the thymus','A tumor (abnormal growth of tissue) of the thymus.'),('HP:0100522','Thymoma','A tumor originating from the epithelial cells of the thymus.'),('HP:0100523','Liver abscess','The presence of an abscess of the liver.'),('HP:0100524','Limb duplication','Congenital duplication of all or part of a limb.'),('HP:0100525','Urachus fistula','Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.'),('HP:0100526','Neoplasm of the lung','Tumor of the lung.'),('HP:0100527','Neoplasia of the pleura',''),('HP:0100528','Pleuropulmonary blastoma','A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.'),('HP:0100529','Abnormal blood phosphate concentration','An abnormality of phosphate homeostasis or concentration in the body.'),('HP:0100530','Abnormal calcium-phosphate regulating hormone level','Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.'),('HP:0100531','Wind-swept deformity of the knees','The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.'),('HP:0100532','Scleritis','Inflammation of the sclera.'),('HP:0100533','Inflammatory abnormality of the eye','Inflammation of the eye, parts of the eye or the periorbital region.'),('HP:0100534','Episcleritis','Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.'),('HP:0100535','Tibiofibular diastasis',''),('HP:0100536','Abnormality of the fascia','An abnormality of fascia.'),('HP:0100537','Fasciitis','Inflammation of fascia, the tissue under the skin and over the muscle.'),('HP:0100538','Abnormality of the supraorbital ridges','An anomaly of the supraorbital portion of the frontal bones.'),('HP:0100539','Periorbital edema','Edema affecting the region situated around the orbit of the eye.'),('HP:0100540','Palpebral edema','Edema in the region of the eyelids.'),('HP:0100541','Femoral hernia','A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.'),('HP:0100542','Abnormal localization of kidney','An abnormal site of the kidney.'),('HP:0100543','Cognitive impairment','Abnormality in the process of thought including the ability to process information.'),('HP:0100544','Neoplasm of the heart','A tumor (abnormal growth of tissue) of the heart.'),('HP:0100545','Arterial stenosis','Narrowing or constriction of the inner surface (lumen) of an artery.'),('HP:0100546','Carotid artery stenosis','Narrowing of the carotid arteries.'),('HP:0100547','Abnormality of forebrain morphology','An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.'),('HP:0100548','Exstrophy','Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.'),('HP:0100550','Tendon rupture','Breakage (tear) of a tendon.'),('HP:0100551','Neoplasm of the trachea','A neoplasm of the trachea.'),('HP:0100552','Neoplasm of the tracheobronchial system',''),('HP:0100553','Hemihypertrophy of lower limb','Overgrowth of only one leg.'),('HP:0100554','Hemihypertrophy of upper limb','Overgrowth of only one arm.'),('HP:0100555','Asymmetric growth','A growth pattern that displays an abnormal difference between the left and the right side.'),('HP:0100556','Hemiatrophy','Undergrowth of the limbs that affects only one side.'),('HP:0100557','Hemiatrophy of lower limb','Unilateral atrophy (reduction in size) of a leg.'),('HP:0100558','Hemiatrophy of upper limb','Unilateral atrophy (reduction in size) of an arm.'),('HP:0100559','Lower limb asymmetry','A difference in length or diameter between the left and right leg.'),('HP:0100560','Upper limb asymmetry','Difference in length or size between the right and left arm.'),('HP:0100561','Spinal cord lesion',''),('HP:0100562','Diplomyelia','Duplication of the spinal cord.'),('HP:0100563','Diastomatomyelia','Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.'),('HP:0100564','Triplomyelia','Triplication of the spinal cord - extremely rare.'),('HP:0100565','Hydromyelia','Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.'),('HP:0100566','Amyelia','Congenital absence of the spinal cord.'),('HP:0100568','Neoplasm of the endocrine system','A tumor (abnormal growth of tissue) of the endocrine system.'),('HP:0100569','Abnormally ossified vertebrae','An abnormality of the formation and mineralization of one or more vertebrae.'),('HP:0100570','Carcinoid tumor','A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.'),('HP:0100571','Cardiac diverticulum','A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.'),('HP:0100572','Fibrous cardiac diverticulum','A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.'),('HP:0100573','Muscular cardiac diverticulum',''),('HP:0100574','Biliary tract neoplasm','A tumor (abnormal growth of tissue) of the biliary system.'),('HP:0100575','Neoplasm of the gallbladder','The presence of a neoplasm of the gallbladder.'),('HP:0100576','Amaurosis fugax','A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.'),('HP:0100577','Urinary bladder inflammation','Inflammation of the urinary bladder.'),('HP:0100578','Lipoatrophy','Localized loss of fat tissue.'),('HP:0100579','Mucosal telangiectasiae','Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.'),('HP:0100580','Barrett esophagus','An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.'),('HP:0100581','Dilatation of renal calices','An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.'),('HP:0100582','Nasal polyposis','Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.'),('HP:0100583','Corneal perforation','A rupture of the cornea through which a portion of the iris protrudes.'),('HP:0100584','Endocarditis','An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.'),('HP:0100585','Telangiectasia of the skin','Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.'),('HP:0100586','Sterile pyuria','Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.'),('HP:0100587','Abnormality of the preputium',''),('HP:0100588','Paraphimosis','The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.'),('HP:0100589','Urogenital fistula','The presence of a fistula affecting the genitourinary system.'),('HP:0100590','Rectal fistula','The presence of a fistula affecting the rectum.'),('HP:0100592','Peritoneal abscess','The presence of an abscess of the peritoneum.'),('HP:0100593','Calcification of cartilage',''),('HP:0100594','Esophageal web','Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).'),('HP:0100595','Camptocormia','An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson`s disease and dystonic disorders.'),('HP:0100596','Absent nares','The nostrils (the paired channels of the nose) are not present.'),('HP:0100598','Pulmonary edema','Fluid accumulation in the lungs.'),('HP:0100599','Bifid penis','Two penile structures, separated from the tip to the base of the shaft.'),('HP:0100600','Penoscrotal transposition','A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.'),('HP:0100601','Eclampsia','An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.'),('HP:0100602','Preeclampsia','Pregnancy-induced hypertension in association with significant amounts of protein in the urine.'),('HP:0100603','Toxemia of pregnancy','Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.'),('HP:0100604','Neoplasm of the lip','A tumor (abnormal growth of tissue) of the lip.'),('HP:0100605','Neoplasm of the larynx',''),('HP:0100606','Neoplasm of the respiratory system','A tumor (abnormal growth of tissue) of the respiratory system.'),('HP:0100607','Dysmenorrhea','Pain during menstruation that interferes with daily activities.'),('HP:0100608','Metrorrhagia','Bleeding at irregular intervals.'),('HP:0100609','obsolete Hypermenorrhea',''),('HP:0100610','Maternal hyperphenylalaninemia','A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.'),('HP:0100611','Multiple glomerular cysts','The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman`s capsule.'),('HP:0100612','Odontogenic neoplasm','Neoplasm involving odontogenic cells, an odontogenic tumor.'),('HP:0100613','Death in early adulthood','Death between the age of 16 and 40 years.'),('HP:0100614','Myositis','A general term for inflammation of the muscles without respect to the underlying cause.'),('HP:0100615','Ovarian neoplasm','A tumor (abnormal growth of tissue) of the ovary.'),('HP:0100616','Testicular teratoma','The presence of a teratoma of the testis.'),('HP:0100617','Testicular seminoma','The presence of a seminoma, an undifferentiated germ cell tumor of the testis.'),('HP:0100618','Leydig cell neoplasia','The presence of a neoplasm of the testis with origin in a Leydig cell.'),('HP:0100619','Sertoli cell neoplasm','The presence of a neoplasm of the testis with origin in a Sertoli cell.'),('HP:0100620','Germinoma','A type of undifferentiated germ cell tumor that may be benign or malignant.'),('HP:0100621','Dysgerminoma','The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.'),('HP:0100622','Maternal seizure','A seizure during pregnancy.'),('HP:0100623','Abnormality of corpus cavernosum',''),('HP:0100624','Corpus cavernosum sclerosis',''),('HP:0100625','Enlarged thorax',''),('HP:0100626','Chronic hepatic failure',''),('HP:0100627','Displacement of the urethral meatus','A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).'),('HP:0100628','Esophageal diverticulum','The presence of a diverticulum of the esophagus.'),('HP:0100629','Midline facial cleft','A congenital malformation with a cleft (gap or opening) in the midline of the face.'),('HP:0100630','Neoplasia of the nasopharynx',''),('HP:0100631','Neoplasm of the adrenal gland','A tumor (abnormal growth of tissue) of the adrenal gland.'),('HP:0100632','Pulmonary sequestration','The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).'),('HP:0100633','Esophagitis','Inflammation of the esophagus.'),('HP:0100634','Neuroendocrine neoplasm','A tumor that originates from a neuroendocrine cell.'),('HP:0100635','Carotid paraganglioma','A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.'),('HP:0100636','Pulmonary paraglioma','A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.'),('HP:0100637','obsolete Neoplasia of the nose',''),('HP:0100638','Neoplasm of the pharynx','A neoplasm originating in the pharynx.'),('HP:0100639','Erectile dysfunction','A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.'),('HP:0100640','Laryngeal cyst','Presence of a cyst (sac-like structure) located in the larynx.'),('HP:0100641','Neoplasm of the adrenal cortex','The presence of a neoplasm of the adrenal cortex.'),('HP:0100642','Neoplasm of the adrenal medulla','The presence of a neoplasm of the adrenal medulla.'),('HP:0100643','Abnormality of nail color','An anomaly of the color of the nail.'),('HP:0100644','Melanonychia','Brown or black discoloration of the nails.'),('HP:0100645','Cystocele','Anterior vaginal wall prolapse with bulging of the bladder into the vagina.'),('HP:0100646','Thyroiditis','Inflammation of the thyroid gland.'),('HP:0100647','Graves disease','An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.'),('HP:0100648','Neoplasm of the tongue','A tumor (abnormal growth of tissue) of the tongue.'),('HP:0100649','Neoplasm of the oral cavity','A tumor (abnormal growth of tissue) of the oral cavity.'),('HP:0100650','Vaginal neoplasm','A tumor (abnormal growth of tissue) of the vagina.'),('HP:0100651','Type I diabetes mellitus','A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.'),('HP:0100653','Optic neuritis','Inflammation of the optic nerve.'),('HP:0100654','Retrobulbar optic neuritis','Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.'),('HP:0100656','Thoracoabdominal wall defect','Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.'),('HP:0100657','Thoracoabdominal eventration','Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.'),('HP:0100658','Cellulitis','A bacterial infection and inflammation of the skin und subcutaneous tissues.'),('HP:0100659','Abnormality of the cerebral vasculature',''),('HP:0100660','Dyskinesia','A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.'),('HP:0100661','Trigeminal neuralgia','A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.'),('HP:0100662','Chondritis','Inflammation of cartilage.'),('HP:0100663','Synotia','A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.'),('HP:0100665','Angioedema','Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.'),('HP:0100668','Intestinal duplication','A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.'),('HP:0100669','Abnormal pigmentation of the oral mucosa','An abnormality of the pigmentation of the mucosa of the mouth.'),('HP:0100670','Rough bone trabeculation',''),('HP:0100671','Abnormal trabecular bone morphology','Abnormal structure or form of trabecular bone.'),('HP:0100672','Vaginal hernia','The presence of a hernia of the vagina.'),('HP:0100673','Vaginal hydrocele',''),('HP:0100674','Vaginal hematocele',''),('HP:0100675','Vaginal pyocele',''),('HP:0100676','Vaginal lymphocele',''),('HP:0100677','Vulval varicose vein','Varicosity of veins in the vulval region.'),('HP:0100678','Premature skin wrinkling','The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.'),('HP:0100679','Lack of skin elasticity',''),('HP:0100681','Esophageal duplication','A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.'),('HP:0100682','Tracheal atresia','A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.'),('HP:0100684','Salivary gland neoplasm','A tumor (abnormal growth of tissue) of a salivary gland.'),('HP:0100685','Abnormal Sharpey fiber morphology','An abnormality of Sharpey`s fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.'),('HP:0100686','Enthesitis',''),('HP:0100687','Polyotia','The presence of an extra auricle on one or both sides of the head.'),('HP:0100689','Decreased corneal thickness','A decreased anteroposterior thickness of the cornea.'),('HP:0100690','Mosaic central corneal dystrophy',''),('HP:0100691','Abnormality of the curvature of the cornea',''),('HP:0100692','Increased corneal curvature','An increase in the degree of curvature of the cornea compared to normal.'),('HP:0100693','Iridodonesis','Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.'),('HP:0100694','Tibial torsion','Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.'),('HP:0100695','Lipedema','Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .'),('HP:0100697','Neurofibrosarcoma','A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.'),('HP:0100698','Subcutaneous neurofibromas','The presence of Neurofibromas in the subcutis.'),('HP:0100699','Scarring',''),('HP:0100700','Abnormal arachnoid mater morphology','An abnormality of the Arachnoid mater.'),('HP:0100701','Abnormal pia mater','An abnormality of the pia mater.'),('HP:0100702','Arachnoid cyst','An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.'),('HP:0100703','Tongue thrusting',''),('HP:0100704','Cerebral visual impairment','A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.'),('HP:0100705','Abnormality of the glial cells','An abnormality of the glia cell.'),('HP:0100706','Abnormality of the oligodendroglia','One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.'),('HP:0100707','Abnormality of the astrocytes','An abnormality of astrocytes.'),('HP:0100708','Abnormality of the microglia','An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells.'),('HP:0100709','Reduction of oligodendroglia',''),('HP:0100710','Impulsivity','Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.'),('HP:0100711','Abnormality of the thoracic spine','An abnormality of the thoracic vertebral column.'),('HP:0100712','Abnormality of the lumbar spine','An abnormality of the lumbar vertebral column.'),('HP:0100716','Self-injurious behavior','Aggression towards oneself.'),('HP:0100717','Abnormality of the cementum',''),('HP:0100718','Uterine rupture',''),('HP:0100719','Lens coloboma','A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.'),('HP:0100720','Hypoplasia of the ear cartilage',''),('HP:0100721','Mediastinal lymphadenopathy','Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.'),('HP:0100723','Gastrointestinal stroma tumor',''),('HP:0100724','Hypercoagulability','An abnormality of coagulation associated with an increased risk of thrombosis.'),('HP:0100725','Lichenification','Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.'),('HP:0100726','Kaposi`s sarcoma','A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi`s sarcoma-associated herpesvirus (KSHV).'),('HP:0100727','Histiocytosis','An excessive number of histiocytes (tissue macrophages).'),('HP:0100728','Germ cell neoplasia',''),('HP:0100729','Large face',''),('HP:0100730','Bronchogenic cyst','A rare congenital cystic lesion of the lungs in the mediastinum.'),('HP:0100731','Transverse facial cleft','A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.'),('HP:0100732','Pancreatic fibrosis',''),('HP:0100733','Neoplasm of the parathyroid gland','A tumor (abnormal growth of tissue) of the parathyroid gland.'),('HP:0100734','Abnormality of vertebral epiphysis morphology','An anomaly of one or more epiphyses of one or more vertebrae.'),('HP:0100735','Hypertensive crisis',''),('HP:0100736','Abnormal soft palate morphology','An abnormality of the soft palate.'),('HP:0100737','Abnormal hard palate morphology',''),('HP:0100738','Abnormal eating behavior','Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.'),('HP:0100739','Bulimia','A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).'),('HP:0100742','Vascular neoplasm','A benign or malignant neoplasm (tumour) originating in the vascular system.'),('HP:0100743','Neoplasm of the rectum',''),('HP:0100744','Abnormality of the humeroradial joint',''),('HP:0100745','Abnormality of the humeroulnar joint','An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.'),('HP:0100746','Macrodactyly of finger','A type of Macrodactyly affecting one or several fingers.'),('HP:0100747','Macrodactyly of toe','A type of Macrodactyly affecting one or several toes.'),('HP:0100748','Muscular edema',''),('HP:0100749','Chest pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.'),('HP:0100750','Atelectasis','Collapse of part of a lung associated with absence of inflation (air) of that part.'),('HP:0100751','Esophageal neoplasm','A tumor (abnormal growth of tissue) of the esophagus.'),('HP:0100752','Abnormal liver lobulation','Formation of abnormal lobules (small masses of tissue) in the liver.'),('HP:0100753','Schizophrenia','A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.'),('HP:0100754','Mania','A state of abnormally elevated or irritable mood, arousal, and or energy levels.'),('HP:0100755','Abnormality of salivation',''),('HP:0100757','Pancreatoblastoma','A rare pediatric carcinoma of the pancreas.'),('HP:0100758','Gangrene','A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).'),('HP:0100759','Clubbing of fingers','Terminal broadening of the fingers (distal phalanges of the fingers).'),('HP:0100760','Clubbing of toes','Terminal broadening of the toes (distal phalanges of the toes).'),('HP:0100761','Visceral angiomatosis',''),('HP:0100762','Hemobilia','Bleeding into the biliary tree.'),('HP:0100763','Abnormality of the lymphatic system','An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.'),('HP:0100764','Lymphangioma','Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.'),('HP:0100765','Abnormality of the tonsils','An abnormality of the tonsils.'),('HP:0100766','Abnormal lymphatic vessel morphology','A structural anomaly of the vessel that contains or conveys lymph fluid.'),('HP:0100767','Abnormality of the placenta','An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.'),('HP:0100768','Choriocarcinoma','A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.'),('HP:0100769','Synovitis',''),('HP:0100770','Hyperperistalsis','Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.'),('HP:0100771','Hypoperistalsis','Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.'),('HP:0100773','Cartilage destruction',''),('HP:0100774','Hyperostosis','Excessive growth or abnormal thickening of bone tissue.'),('HP:0100775','Dural ectasia','A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.'),('HP:0100776','Recurrent pharyngitis','An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.'),('HP:0100777','Exostoses','An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.'),('HP:0100778','Cryoglobulinemia','Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.'),('HP:0100779','Urogenital sinus anomaly','A rare birth defect in women where the urethra and vagina both open into a common channel.'),('HP:0100780','Conjunctival hamartoma','A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.'),('HP:0100781','Abnormality of the sacroiliac joint','An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).'),('HP:0100783','Breast aplasia','Failure to develop and congenital absence of the breast.'),('HP:0100784','Peripheral arteriovenous fistula',''),('HP:0100785','Insomnia',''),('HP:0100786','Hypersomnia',''),('HP:0100787','Prostate neoplasm',''),('HP:0100788','Fused lips','Lack of separation of the upper and lower lips.'),('HP:0100789','Torus palatinus','A bony protrusion present on the midline of the hard palate.'),('HP:0100790','Hernia',''),('HP:0100792','Acantholysis','The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.'),('HP:0100795','Abnormally straight spine','The absence of the normal curvature of the vertebral column.'),('HP:0100796','Orchitis','Testicular inflammation.'),('HP:0100797','Toenail dysplasia','An abnormality of the development of the toenails.'),('HP:0100798','Fingernail dysplasia','An abnormality of the development of the fingernails.'),('HP:0100799','Neoplasm of the middle ear','A tumor (abnormal growth of tissue) of the middle ear.'),('HP:0100800','Aplasia/Hypoplasia of the pancreas','A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.'),('HP:0100801','Pancreatic aplasia','Aplasia of the pancreas.'),('HP:0100802','Malposition of the stomach','Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.'),('HP:0100803','Abnormality of the periungual region','An abnormality of the region around the nails of the fingers or toes.'),('HP:0100804','Ungual fibroma','Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate).'),('HP:0100805','obsolete Precocious menopause',''),('HP:0100806','Sepsis','Systemic inflammatory response to infection.'),('HP:0100807','Long fingers','The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.'),('HP:0100808','Gastric diverticulum','An outpouching of the gastric wall.'),('HP:0100809','Scalp tenderness','Pain or discomfort of the scalp elicited by palpation.'),('HP:0100810','Pointed helix',''),('HP:0100811','Aplasia/Hypoplasia of the colon','Congenital absence or underdevelopment of the colon.'),('HP:0100812','Halitosis','Noticeably unpleasant odors exhaled in breathing.'),('HP:0100813','Testicular torsion','Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.'),('HP:0100814','Blue nevus',''),('HP:0100816','Lip hyperpigmentation',''),('HP:0100817','Renovascular hypertension','The presence of hypertension related to stenosis of the renal artery.'),('HP:0100818','Long thorax','Increased inferior to superior extent of the thorax.'),('HP:0100819','Intestinal fistula','An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.'),('HP:0100820','Glomerulopathy','Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.'),('HP:0100821','Urethrocele','The prolapse of the female urethra into the vagina.'),('HP:0100822','Rectocele','A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.'),('HP:0100823','Genital hernia',''),('HP:0100825','Cheilitis','Inflammation of the lip.'),('HP:0100826','Neoplasm of the nail','A tumor (abnormal growth of tissue) of the nail.'),('HP:0100827','Lymphocytosis','Increase in the number or proportion of lymphocytes in the blood.'),('HP:0100828','Increased T cell count','An abnormal increase in the total number of T cells detected in the blood.'),('HP:0100829','Galactorrhea','Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.'),('HP:0100830','Round ear',''),('HP:0100831','Abnormality of vitamin K metabolism','Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.'),('HP:0100832','Vitreous floaters','Deposits of various size, shape, consistency, refractive index, and motility within the eye`s vitreous humour, which is normally transparent.'),('HP:0100833','Neoplasm of the small intestine','The presence of a neoplasm of the small intestine.'),('HP:0100834','Neoplasm of the large intestine','The presence of a neoplasm of the large intestine.'),('HP:0100835','Benign neoplasm of the central nervous system',''),('HP:0100836','Malignant neoplasm of the central nervous system','A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.'),('HP:0100837','Atrophodermia vermiculata','Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.'),('HP:0100838','Recurrent cutaneous abscess formation','An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.'),('HP:0100839','Hepatic agenesis','Absence of the liver owing to a failure of the liver to develop.'),('HP:0100840','Aplasia/Hypoplasia of the eyebrow','Absence or underdevelopment of the eyebrow.'),('HP:0100841','Microgastria','A developmental anomaly wtih a small tubular or saccular midline stomach.'),('HP:0100842','Septo-optic dysplasia','Underdevelopment of the optic nerve and absence of the septum pellucidum.'),('HP:0100843','obsolete Glioblastoma',''),('HP:0100844','Pancreatic fistula',''),('HP:0100845','Anaphylactic shock','An acute hypersensitivity reaction due to exposure to a previously encountered antigen.'),('HP:0100847','Palmoplantar pustulosis','A chronic, relapsing, pustular eruption that is localized to the palms and soles.'),('HP:0100848','Neoplasm of the male external genitalia','A tumor (abnormal growth of tissue) of the male external genitalia.'),('HP:0100849','Neoplasm of the scrotum','A tumor (abnormal growth of tissue) of the scrotum.'),('HP:0100850','Neoplasm of the penis','A tumor (abnormal growth of tissue) of the penis.'),('HP:0100851','Abnormal emotion/affect behavior','An abnormality of emotional behaviour.'),('HP:0100852','Abnormal fear/anxiety-related behavior','An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.'),('HP:0100853','Hypoplastic areola','Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.'),('HP:0100854','Aplasia of the musculature','Absence of the musculature.'),('HP:0100855','Triceps hypoplasia','Hypoplasia of the triceps muscle.'),('HP:0100856','Poorly ossified vertebrae','Decreased ossification of the vertebral bodies.'),('HP:0100857','Flat sella turcica','An abnormally flat sella turcica.'),('HP:0100858','Dilatation of celiac artery','Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.'),('HP:0100859','Dilatation of superior mesenteric artery','Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .'),('HP:0100860','Dilatation of Inferior mesenteric artery','Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .'),('HP:0100861','Sclerotic vertebral body','Increase in bone density of the vertebral body.'),('HP:0100862','Aplasia of the femoral head',''),('HP:0100863','Aplasia of the femoral neck',''),('HP:0100864','Short femoral neck','An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).'),('HP:0100865','Broad ischia','Increased width of the ischium, which forms the lower and back part of the hip bone.'),('HP:0100866','Short iliac bones','Underdevelopment of the iliac bones.'),('HP:0100867','Duodenal stenosis','The narrowing or partial blockage of a portion of the duodenum.'),('HP:0100869','Palmar telangiectasia','The presence of telangiectases on the skin of palm of hand.'),('HP:0100870','Plantar telangiectasia','Telangiectases (small dilated blood vessels) located on the skin of sole of foot.'),('HP:0100871','Abnormality of the palm','An abnormality of the palm, that is, of the front of the hand.'),('HP:0100872','Abnormality of the plantar skin of foot','An abnormality of the plantar part of foot, that is of the soles of the feet.'),('HP:0100874','Thick hair','Increased density of hairs, i.e., and elevated number of hairs per unit area.'),('HP:0100875','Hemimacroglossia','Increased length and width of one half of the tounge.'),('HP:0100876','Infra-orbital crease','Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.'),('HP:0100877','Renal diverticulum','Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.'),('HP:0100878','Enlarged uterus',''),('HP:0100879','Enlarged ovaries',''),('HP:0100880','Nephrogenic rest','Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.'),('HP:0100881','Congenital mesoblastic nephroma','Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.'),('HP:0100882','Fibrous hamartoma','A rare, benign soft tissue tumor that typically occurs within the first two years of life.'),('HP:0100883','Chorangioma','Hamartoma-like growth in the placenta consisting of blood vessels.'),('HP:0100884','Compensatory scoliosis','A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.'),('HP:0100885','Lateral venous anomaly','Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.'),('HP:0100886','Abnormality of globe location','An abnormality in the placement of the ocular globe (eyeball).'),('HP:0100887','Abnormality of globe size','An abnormality in the size of the ocular globe (eyeball).'),('HP:0100888','Interdigital loops',''),('HP:0100889','Abnormality of the ductus choledochus','An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.'),('HP:0100890','Cyst of the ductus choledochus',''),('HP:0100891','Bifid xiphoid process','A cleft of the xiphoid process of the sternum.'),('HP:0100892','Abnormality of the xiphoid process','An abnormality of the xiphoid process of the sternum.'),('HP:0100893','Prominent xiphoid process','Increased prominence of the xiphoid process of the sternum.'),('HP:0100894','Broad xiphoid process','Increased side-to-side width of the xiphoid process of the sternum.'),('HP:0100896','Rectal polyposis','The presence of multiple rectal hyperplastic/adenomatous polyps.'),('HP:0100898','Connective tissue nevi','Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.'),('HP:0100899','Sclerosis of finger phalanx','An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100900','Sclerosis of the distal phalanx of the 2nd finger',''),('HP:0100901','Sclerosis of the distal phalanx of the 3rd finger',''),('HP:0100902','Sclerosis of the distal phalanx of the 4th finger',''),('HP:0100903','Sclerosis of the distal phalanx of the 5th finger',''),('HP:0100904','Sclerosis of the middle phalanx of the 2nd finger',''),('HP:0100905','Sclerosis of the middle phalanx of the 3rd finger',''),('HP:0100906','Sclerosis of the middle phalanx of the 4th finger',''),('HP:0100907','Sclerosis of the middle phalanx of the 5th finger',''),('HP:0100908','Sclerosis of the proximal phalanx of the 2nd finger',''),('HP:0100909','Sclerosis of the proximal phalanx of the 3rd finger',''),('HP:0100910','Sclerosis of the proximal phalanx of the 4th finger',''),('HP:0100911','Sclerosis of the proximal phalanx of the 5th finger',''),('HP:0100912','Sclerosis of the distal phalanx of the thumb','An elevation of bone density in the distal phalanx of the thumb.'),('HP:0100913','Sclerosis of the proximal phalanx of the thumb','An elevation of bone density in the proximal phalanx of the thumb.'),('HP:0100914','Sclerosis of the 1st metacarpal',''),('HP:0100915','Sclerosis of distal finger phalanx','An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100916','Sclerosis of middle finger phalanx','An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100917','Sclerosis of proximal finger phalanx','An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100918','Sclerosis of 2nd finger phalanx','An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100919','Sclerosis of 3rd finger phalanx','An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100920','Sclerosis of 4th finger phalanx','An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100921','Sclerosis of 5th finger phalanx','An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100922','Sclerosis of thumb phalanx',''),('HP:0100923','Clavicular sclerosis','An increase in bone density within the clavicle.'),('HP:0100924','Sclerosis of toe phalanx','An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100925','Sclerosis of foot bone','An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100926','Sclerosis of 2nd toe phalanx','An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100927','Sclerosis of 3rd toe phalanx','An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100928','Sclerosis of 4th toe phalanx','An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100929','Sclerosis of 5th toe phalanx','An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100930','Sclerosis of hallux phalanx','An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100931','Sclerosis of the proximal phalanx of the 2nd toe','An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100932','Sclerosis of the proximal phalanx of the 3rd toe','An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100933','Sclerosis of the proximal phalanx of the 4th toe',''),('HP:0100934','Sclerosis of the proximal phalanx of the 5th toe',''),('HP:0100935','Sclerosis of the middle phalanx of the 2nd toe',''),('HP:0100936','Sclerosis of the middle phalanx of the 3rd toe','An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100937','Sclerosis of the middle phalanx of the 4th toe',''),('HP:0100938','Sclerosis of the middle phalanx of the 5th toe',''),('HP:0100939','Sclerosis of the distal phalanx of the 2nd toe',''),('HP:0100940','Sclerosis of the distal phalanx of the 3rd toe','An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100941','Sclerosis of the distal phalanx of the 4th toe',''),('HP:0100942','Sclerosis of the distal phalanx of the 5th toe',''),('HP:0100943','Sclerosis of the proximal phalanx of the hallux',''),('HP:0100944','Sclerosis of the distal phalanx of the hallux',''),('HP:0100945','Sclerosis of the 1st metatarsal',''),('HP:0100946','Sclerosis of proximal toe phalanx','An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100947','Sclerosis of middle toe phalanx','An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100948','Sclerosis of distal toe phalanx','An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.'),('HP:0100950','Decreased 3-hydroxyacyl-CoA dehydrogenase level',''),('HP:0100951','Enlarged fossa interpeduncularis',''),('HP:0100952','Enlarged sylvian cistern','An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).'),('HP:0100953','Enlarged interhemispheric fissure',''),('HP:0100954','Open operculum','Underdevelopment of the operculum.'),('HP:0100955','Giant cell granuloma of mandible',''),('HP:0100957','Abnormal renal medulla morphology','Any structural abnormality of the medulla of the kidney.'),('HP:0100958','Narrow foramen obturatorium','Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.'),('HP:0100959','Dense metaphyseal bands','Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.'),('HP:0100960','Asymmetric ventricles',''),('HP:0100961','Enlarged hippocampus','Increase in size of the hippocampus.'),('HP:0100962','Shyness',''),('HP:0100963','Hyperesthesia',''),('HP:0200000','Dysharmonic bone age','Different levels of maturation of different bones.'),('HP:0200001','Dysharmonic accelerated bone age','A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.'),('HP:0200003','Splayed epiphyses','Flaring (widening) of the epiphysis.'),('HP:0200005','Abnormal shape of the palpebral fissure','The presence of an abnormal shape of the palpebral fissure.'),('HP:0200006','Slanting of the palpebral fissure',''),('HP:0200007','Abnormal size of the palpebral fissures','An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.'),('HP:0200008','Intestinal polyposis','The presence of multiple polyps in the intestine.'),('HP:0200011','Abnormal length of corpus callosum',''),('HP:0200012','Short corpus callosum',''),('HP:0200013','Neoplasm of fatty tissue','A tumor (abnormal growth of tissue) of adipose tissue.'),('HP:0200015','Symmetric great toe depigmentation',''),('HP:0200016','Acrokeratosis','Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.'),('HP:0200017','Cerebral white matter agenesis','Congenital defect with failure of the development of the cerebral white matter.'),('HP:0200018','Protanomaly','A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.'),('HP:0200020','Corneal erosion','An erosion or abrasion of the cornea`s outermost layer of epithelial cells.'),('HP:0200021','Down-sloping shoulders','Low set, steeply sloping shoulders.'),('HP:0200022','Choroid plexus papilloma','Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.'),('HP:0200023','Priapism','A painful and harmful medical condition in which the erect penis doesn`t return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.'),('HP:0200024','Premature chromatid separation','The presence of premature sister chromatid segregation.'),('HP:0200025','Mandibular pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.'),('HP:0200026','Ocular pain','An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.'),('HP:0200028','Pretibial myxedema','A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.'),('HP:0200029','Vasculitis in the skin',''),('HP:0200030','Punctate vasculitis skin lesions',''),('HP:0200032','Kayser-Fleischer ring','Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.'),('HP:0200034','Papule','A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.'),('HP:0200035','Skin plaque','A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.'),('HP:0200036','Skin nodule','Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.'),('HP:0200037','Skin vesicle','A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.'),('HP:0200039','Pustule','A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.'),('HP:0200040','Epidermoid cyst','Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.'),('HP:0200041','Skin erosion','A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.'),('HP:0200042','Skin ulcer','A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.'),('HP:0200043','Verrucae','Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.'),('HP:0200044','Porokeratosis','A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.'),('HP:0200046','Cat cry','The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.'),('HP:0200047','Chondritis of pinna','Inflammation of the cartilage of the external ear.'),('HP:0200048','Cyanotic episode',''),('HP:0200049','Upper limb hypertonia',''),('HP:0200050','Bracket metacarpal epiphyses',''),('HP:0200053','Hemihypotrophy of lower limb','Shortening of a leg affecting only one side.'),('HP:0200054','Foot monodactyly',''),('HP:0200055','Small hand','Disproportionately small hand.'),('HP:0200056','Macular scar','Scar tissue in the macula.'),('HP:0200057','Marcus Gunn pupil',''),('HP:0200058','Angiosarcoma',''),('HP:0200059','Metastatic angiosarcoma',''),('HP:0200063','Colorectal polyposis','Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.'),('HP:0200064','Asymmetry of iris pigmentation','Asymmetry between the two irides or asymmetry between different parts of one iris.'),('HP:0200065','Chorioretinal degeneration',''),('HP:0200066','Ribbonlike corneal degeneration',''),('HP:0200067','Recurrent spontaneous abortion','Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.'),('HP:0200068','Nonprogressive visual loss',''),('HP:0200070','Peripheral retinal atrophy',''),('HP:0200071','Peripheral vitreoretinal degeneration','A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.'),('HP:0200072','Episodic quadriplegia','Intermittent episodes of paralysis of all four limbs.'),('HP:0200073','Respiratory insufficiency due to defective ciliary clearance',''),('HP:0200083','Severe limb shortening',''),('HP:0200084','Giant cell hepatitis','Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.'),('HP:0200085','Limb tremor',''),('HP:0200094','Frontal open bite',''),('HP:0200095','Anterior open bite',''),('HP:0200096','Triangular-shaped open mouth','A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.'),('HP:0200097','Oral mucosal blisters','Blisters arising in the mouth.'),('HP:0200098','Absent skin pigmentation','Lack of skin pigmentation (coloring).'),('HP:0200099','obsolete Peripheral retinal pigmentation abnormalities',''),('HP:0200101','Decreased/absent ankle reflexes',''),('HP:0200102','Sparse or absent eyelashes',''),('HP:0200104','Absent fifth fingernail','Absence of nail of little finger.'),('HP:0200105','Absent fifth toenail',''),('HP:0200106','Absent/shortened dynein arms',''),('HP:0200107','Shortened inner dynein arms',''),('HP:0200108','Shortened outer dynein arms',''),('HP:0200109','Absent/shortened outer dynein arms',''),('HP:0200111','Absent stapes head',''),('HP:0200113','Aphalangy of hands and feet',''),('HP:0200114','Metabolic alkalosis',''),('HP:0200115','Scalp hair loss',''),('HP:0200116','Distal ileal atresia',''),('HP:0200117','Recurrent upper and lower respiratory tract infections','Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.'),('HP:0200118','Malabsorption of Vitamin B12',''),('HP:0200119','Acute hepatitis','Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.'),('HP:0200120','Chronic active hepatitis','Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.'),('HP:0200122','Atypical or prolonged hepatitis',''),('HP:0200123','Chronic hepatitis','Hepatitis that lasts for more than six months.'),('HP:0200124','Chronic hepatitis due to cryptosporidium infection','Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.'),('HP:0200125','Mitochondrial respiratory chain defects',''),('HP:0200126','obsolete Amyloid cardiomyopathy',''),('HP:0200127','Atrial cardiomyopathy','Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.'),('HP:0200128','Biventricular hypertrophy','Thickening of the heart walls in both ventricles.'),('HP:0200129','obsolete Calcific mitral stenosis',''),('HP:0200133','Lumbosacral meningocele',''),('HP:0200134','Epileptic encephalopathy','A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.'),('HP:0200135','obsolete Macrocephaly due to hydrocephalus',''),('HP:0200136','Oral-pharyngeal dysphagia',''),('HP:0200138','Bilateral choanal atresia/stenosis',''),('HP:0200141','Small, conical teeth',''),('HP:0200143','Megaloblastic erythroid hyperplasia',''),('HP:0200144','obsolete Anaphylactoid purpura',''),('HP:0200146','Mucoid extracellular matrix accumulation','An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat`s pentachrome, Alcian blue, etc.).'),('HP:0200147','Neuronal loss in basal ganglia','A reduction in the number of nerve cells in the basal ganglia.'),('HP:0200148','Abnormal liver function tests during pregnancy',''),('HP:0200149','CSF lymphocytic pleiocytosis','An increased lymphocyte count in the cerebrospinal fluid.'),('HP:0200150','Increased serum bile acid concentration during pregnancy',''),('HP:0200151','Cutaneous mastocytosis','Multifocal dense infiltrates of mast cells in cutaneous tissue.'),('HP:0200153','Agenesis of lateral incisor',''),('HP:0200154','Agenesis of mandibular lateral incisor',''),('HP:0200158','Agenesis of permanent mandibular lateral incisor',''),('HP:0200159','Agenesis of primary mandibular lateral incisor',''),('HP:0200160','Agenesis of maxillary incisor',''),('HP:0200161','Agenesis of mandibular incisor',''),('HP:0400000','Tall chin','Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.'),('HP:0400001','Chin with vertical crease','Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.'),('HP:0400002','Extra concha fold','Folds or ridges within the concha that are distinct from the crus helix.'),('HP:0400003','Focal absence of the external ear','Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).'),('HP:0400004','Long ear','Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.'),('HP:0400005','Short ear','Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.'),('HP:0400007','Polymenorrhea','Frequent menses; menstrual cycles lasting less than 21 days.'),('HP:0400008','Menometrorrhagia','Prolonged/excessive menses and bleeding at irregular intervals.'),('HP:0410000','Abnormality of vomer','An abnormality of the vomer.'),('HP:0410003','Cleft maxillary alveolus','Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.'),('HP:0410004','obsolete Cleft secondary palate',''),('HP:0410005','Cleft hard palate',''),('HP:0410006','Abnormality of ophthalmic artery','Abnormality of the first branch of the internal carotid artery.'),('HP:0410007','obsolete Abnormality of cartilage morphology',''),('HP:0410008','Abnormality of the peripheral nervous system','Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.'),('HP:0410009','Abnormality of the somatic nervous system','Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.'),('HP:0410010','Abnormality of somatic nerve plexus','Any abnormality of the somatic nerve plexus.'),('HP:0410011','Abnormality of masticatory muscle','Any abnormality of the masticatory muscle.'),('HP:0410012','Abnormal mouth floor morphology','Any abnormality of the mouth floor.'),('HP:0410013','Abnormality of the submandibular region','Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.'),('HP:0410014','Abnormality of ganglion','An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.'),('HP:0410015','Abnormality of ganglion of peripheral nervous system','An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.'),('HP:0410016','Abnormality of cranial ganglion','An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.'),('HP:0410017','Otitis externa','Inflammation or infection of the external auditory canal (EAC), the auricle, or both.'),('HP:0410018','Recurrent ear infections','Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.'),('HP:0410019','Epigastric pain','Pain that is localized to the region of the upper abdomen immediately below the ribs.'),('HP:0410020','Fish odor','Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.'),('HP:0410021','Musty odor','Pungent body odor.'),('HP:0410022','Vaginal fish odor','A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).'),('HP:0410023','Abnormal distribution of cell junction proteins in buccal mucosal cells','An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.'),('HP:0410026','Abnormality of the periodontium','Any abnormality of the periodontium.'),('HP:0410027','Alveolar bone loss around teeth','A decrease in the amount of alveolar bone around the root of a tooth.'),('HP:0410028','Recurrent oral herpes','Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.'),('HP:0410030','Cleft lip','A gap in the lip or lips.'),('HP:0410031','Submucous cleft of soft and hard palate','Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.'),('HP:0410032','obsolete Cleft of uvula',''),('HP:0410033','Unilateral alveolar cleft of maxilla','One sided alveolar cleft of the maxilla.'),('HP:0410034','Bilateral alveolar cleft of maxilla','Nonmidline alveolar cleft of the maxilla.'),('HP:0410035','Abnormal T cell activation','Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.'),('HP:0410042','Abnormal liver morphology','Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.'),('HP:0410043','Abnormal neural tube morphology','Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).'),('HP:0410049','Abnormality of radial ray',''),('HP:0410050','Decreased level of 1,5 anhydroglucitol in serum','A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.'),('HP:0410051','Increased level of 3-hydroxy-3-methylglutaric acid in urine',''),('HP:0410052','Increased level of allantoin in serum','An increase in the level of allantoin in the serum.'),('HP:0410053','Increased level of GABA in serum','An increase in the level of GABA in the serum.'),('HP:0410054','Decreased level of GABA in serum','A decrease in the level of GABA in the serum.'),('HP:0410055','Decreased level of erythritol in urine','A decrease in the level of erythritol in the urine.'),('HP:0410056','Decreased level of erythritol in CSF','A decrease in the level of erythritol in the cerebrospinal fluid.'),('HP:0410057','Increased level of D-threitol in plasma','An increase in the level of D-threitol in the plasma.'),('HP:0410058','Increased level of D-threitol in CSF','An increase in the level of D-threitol in the cerebrospinal fluid.'),('HP:0410059','Increased level of D-threitol in urine','An increase in the level of D-threitol in the urine.'),('HP:0410060','Decreased level of D-mannose in urine','A decrease in the level of D-mannose in the urine.'),('HP:0410061','Increased level of galactitol in plasma','An increase in the level of galactitol in the plasma.'),('HP:0410062','Increased level of galactitol in urine','An increase in the level of galactitol in the urine.'),('HP:0410063','Increased level of galactonate in red blood cells','An increase in the level of galactonate in the red blood cells.'),('HP:0410064','Increased level of galactitol in red blood cells','An increase in the level of galactitol in the red blood cells.'),('HP:0410065','Increased level of hippuric acid in blood','An increase in the level of hippuric acid in the blood.'),('HP:0410066','Increased level of hippuric acid in urine','An increase in the level of hippuric acid in the urine.'),('HP:0410067','Increased level of L-fucose in urine','An increase in the level of L-fucose in the urine.'),('HP:0410068','Increased level of L-glutamic acid in blood','An increase in the level of L-glutamic acid in the blood.'),('HP:0410069','Increased level of propylene glycol in blood','An increase in the level of propylene glycol in the blood.'),('HP:0410070','Increased level of ribitol in urine','An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.'),('HP:0410071','Increased level of ribitol in CSF','An increase in the level of ribitol in the cerebral spinal fluid.'),('HP:0410072','Increased level of ribose in urine','An increase in the level of ribose in the urine.'),('HP:0410073','Increased level of ribose in CSF','An increase in the level of ribose in the cerebrospinal fluid.'),('HP:0410074','Increased level of xylitol in urine','An increase in the level of xylitol in the urine.'),('HP:0410075','Increased level of xylitol in CSF','An increase in the level of xylitol in the cerebrospinal fluid.'),('HP:0410132','Increased level of L-pyroglutamic acid in urine','An increase in the level of L-pyroglutamic acid in the urine.'),('HP:0410133','Chronic idiopathic urticaria','Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.'),('HP:0410134','Physical urticaria','Urticaria caused by physical agents, such as heat, cold, light, friction.'),('HP:0410135','Cold urticaria','Urticaria may be caused by cold temperatures.'),('HP:0410136','Aquagenic urticaria','A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.'),('HP:0410137','Solar urticaria','Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.'),('HP:0410138','Vibratory urticaria','Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.'),('HP:0410139','Exercise induced anaphylaxis','Anaphylaxis after physical activity.'),('HP:0410144','Abnormal biotinidase level','An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.'),('HP:0410145','Decreased biotinidase level','A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.'),('HP:0410146','Increased biotinidase level','An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.'),('HP:0410147','Eosinophilic infiltration in the stomach mucosa','Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.'),('HP:0410148','Idiopathic anaphylaxis','A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.'),('HP:0410149','Drug-induced anaphylaxis','A form of anaphylaxis that is triggered by intake of drugs or medications.'),('HP:0410151','Eosinophilic infiltration of the esophagus','Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.'),('HP:0410152','Eosinophilic microabscess formation in the esophagus','The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.'),('HP:0410153','Increased level of methylsuccinic acid in urine','An increase in the level of methylsuccinic acid in the urine.'),('HP:0410154','Increased level of myristic acid in serum','An increase in the level of myristic acid in the serum.'),('HP:0410156','Increased level of N-acetylneuraminic acid in urine','An increase in the level of N-acetylneuraminic acid in the urine.'),('HP:0410157','Increased level of N-acetylneuraminic acid in fibroblasts','An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.'),('HP:0410158','Increased level of O-phosphoethanolamine in urine','An increase in the level of O-phosphoethanolamine in the urine.'),('HP:0410166','Defective interstrand cross-link repair','A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.'),('HP:0410167','Abnormal morphology of the chest musculature','Any abnormality of the chest muscles.'),('HP:0410168','Abnormality of the back musculature','Any abnormality of the back muscles.'),('HP:0410169','Abnormal morphology of the shoulder musculature','Any abnormality of the shoulder muscles.'),('HP:0410170','Hippocampal atrophy','Partial or complete wasting (loss) of hippocampus tissue that was once present.'),('HP:0410171','Increased cotinine level','Increased concentration of cotinine in urine.'),('HP:0410172','Blood xenobiotic','The presence of a xenobiotic in blood.'),('HP:0410173','Increased troponin I level in blood','An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.'),('HP:0410174','Increased troponin T level in blood','An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.'),('HP:0410175','Hyperketonemia','An increase in the level of ketone bodies in the blood.'),('HP:0410176','Abnormal glucose-6-phosphate dehydrogenase level','An anomaly in the level of glucose-6-phosphate dehydrogenase.'),('HP:0410177','Abnormal glucose-6-phosphate dehydrogenase level in blood','An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.'),('HP:0410178','Increased glucose-6-phosphate dehydrogenase level in blood','An increase in the level of glucose-6-phosphate dehydrogenase in the blood.'),('HP:0410179','Decreased glucose-6-phosphate dehydrogenase level in blood','A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.'),('HP:0410180','Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot','An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.'),('HP:0410181','Increased glucose-6-phosphate dehydrogenase level in dried blood spot','An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.'),('HP:0410182','Decreased glucose-6-phosphate dehydrogenase level in dried blood spot','A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.'),('HP:0410183','Abnormal glucose-6-phosphate dehydrogenase level in leukocytes','An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.'),('HP:0410184','Abnormal glucose-6-phosphate dehydrogenase level in red blood cells','An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.'),('HP:0410185','Abnormal glucose-6-phosphate dehydrogenase level in tissue','An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.'),('HP:0410186','Increased glucose-6-phosphate dehydrogenase level in tissue','An increase in the level of glucose-6-phosphate dehydrogenase in tissue.'),('HP:0410187','Decreased glucose-6-phosphate dehydrogenase level in tissue','A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.'),('HP:0410188','Decreased glucose-6-phosphate dehydrogenase level in red blood cells','A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.'),('HP:0410189','Increased glucose-6-phosphate dehydrogenase level in red blood cells','An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.'),('HP:0410190','Decreased glucose-6-phosphate dehydrogenase level in leukocytes','A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.'),('HP:0410191','Increased glucose-6-phosphate dehydrogenase level in leukocytes','An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.'),('HP:0410192','Abnormal uridine diphosphate glucose-4-epimerase level','An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410193','Abnormal uridine diphosphate glucose-4-epimerase level in plasma','An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410194','Increased uridine diphosphate glucose-4-epimerase level in plasma','An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410195','Decreased uridine diphosphate glucose-4-epimerase level in plasma','A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410196','Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells','An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410197','Increased uridine diphosphate glucose-4-epimerase level in red blood cells','An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410198','Decreased uridine diphosphate glucose-4-epimerase level in red blood cells','A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.'),('HP:0410199','Increased CSF urate concentration','Increased concentration of urate in the cerebrospinal fluid.'),('HP:0410200','Positive meconium barbiturate test','Detection of barbiturate metabolites such as phenobarbital in meconium.'),('HP:0410201','Positive hair barbiturate test','Detection of barbiturate metabolites such as phenobarbital in the hair.'),('HP:0410202','Positive stool barbiturate test','Detection of barbiturate metabolites such as phenobarbital in the stool.'),('HP:0410203','Positive gastric fluid barbiturate test','Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.'),('HP:0410204','Increased intestinal transit time','An increase in the length of time required for food to pass through the intestines.'),('HP:0410205','Abnormal circulating nicotinurate level','Any deviation from the normal concentration of nicotinurate in the blood.'),('HP:0410206','Increased circulating nicotinurate level','An increased amount of nicotinurate in the blood.'),('HP:0410207','Positive methadone plasma/serum test','Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.'),('HP:0410208','Positive plasma/serum cotinine test','Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.'),('HP:0410209','Folate deficiency in CSF','A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.'),('HP:0410210','Abnormal cord blood measurement','An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.'),('HP:0410211','Abnormal blood gas level in cord blood',''),('HP:0410212','Hyperoxemia in cord blood','An abnormally high level of blood oxygen in the cord blood.'),('HP:0410213','Hypoxemia in cord blood','An abnormally low level of blood oxygen in the cord blood.'),('HP:0410214','Hypercapnia in cord blood','Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.'),('HP:0410215','Hypocapnia in cord blood','Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.'),('HP:0410216','Abnormal blood 5-methyltetrahydrofolate level','An abnormal concentration of 5-methyltetrahydrofolate in the blood.'),('HP:0410217','Reduced blood 5-methyltetrahydrofolate level','A decreased concentration of 5-methyltetrahydrofolate in the blood.'),('HP:0410218','Hypoplasia of maxilla relative to mandible','Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).'),('HP:0410219','Hypoplasia of mandible relative to maxilla','Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).'),('HP:0410220','Increased anti-dairy protein IgE antibody level','Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.'),('HP:0410221','Increased anti-animal protein IgE antibody level','Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.'),('HP:0410222','Increased anti-seafood IgE antibody level','Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.'),('HP:0410223','Increased anti-dust mite IgE antibody level','Increased level of IgE antibody against dust mites, such as house dust mites.'),('HP:0410224','Increased anti-bacteria IgE antibody level','Increased level of IgE antibody against bacteria.'),('HP:0410225','Increased anti-drug IgE antibody level','Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.'),('HP:0410226','Increased anti-feather IgE antibody level','Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.'),('HP:0410227','Increased anti-food allergen IgE antibody level','Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.'),('HP:0410228','Increased anti-plant based food allergen IgE antibody level','Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.'),('HP:0410229','Increased anti-gluten IgE antibody level','Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.'),('HP:0410230','Increased anti-nut food product IgE antibody level','Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.'),('HP:0410231','Increased anti-egg IgE antibody level','Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.'),('HP:0410232','Increased anti-fungi IgE antibody level','Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.'),('HP:0410233','Increased anti-meat allergen IgE antibody level','Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.'),('HP:0410234','Increased anti-parasite IgE antibody level','Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.'),('HP:0410235','Increased anti-insect IgE antibody level','Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.'),('HP:0410236','Increased anti-venom IgE antibody level','Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.'),('HP:0410238','Increased anti-plant product IgE antibody level','Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.'),('HP:0410239','Positive urine norcotinine test','Detection of norcotinine, a metabolite of nicotine, in urine.'),('HP:0410240','Abnormal circulating IgA level','An abnormal deviation from normal levels of IgA immunoglobulin in blood.'),('HP:0410241','Abnormal circulating IgE level','An abnormal deviation from normal levels of IgE immunoglobulin in blood.'),('HP:0410242','Abnormal circulating IgG level','An abnormal deviation from normal levels of IgG immunoglobulin in blood.'),('HP:0410243','Abnormal circulating IgM level','An abnormal deviation from normal levels of IgM immunoglobulin in blood.'),('HP:0410244','Abnormal circulating IgD level','An abnormal deviation from normal levels of IgD immunoglobulin in blood.'),('HP:0410245','Decreased circulating IgD','An abnormally decreased level of immunoglobulin D (IgD) in blood.'),('HP:0410246','Increased circulating IgD level','An abnormally increased level of immunoglobulin D in blood.'),('HP:0410247','Increased anti-animal dander IgE antibody level','Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.'),('HP:0410248','Increased anti-house dust mite IgE antibody level','Increased level of IgE antibody against house dust mites, a common allergen.'),('HP:0410249','Increased anti-alpha-gal IgE antibody level','Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.'),('HP:0410251','Abnormal L-selectin shedding','An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.'),('HP:0410252','Chronic neutropenia','Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.'),('HP:0410253','Chronic neutropenia in myeloid maturation arrest in bone marrow','Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.'),('HP:0410254','Cyclic neutropenia in myeloid maturation arrest in bone marrow','Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.'),('HP:0410255','Transient neutropenia','A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.'),('HP:0410256','Infection associated neutropenia','Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.'),('HP:0410257','Neutrophilia in presence of infection','An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.'),('HP:0410258','Neutrophilia in absence of infection','An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.'),('HP:0410259','Hepatopulmonary fusion','Fusion of the liver with the lung.'),('HP:0410260','Asymmetrical gluteal crease','The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.'),('HP:0410261','Wide space between 4th and 5th toe','A widely spaced gap between the fourth toe and the fifth (pinky) toe.'),('HP:0410262','Lower cranial nerve dysfunction','A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.'),('HP:0410263','Brain imaging abnormality','An anomaly of metabolism or structure of the brain identified by imaging.'),('HP:0410264','Subglottic hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.'),('HP:0410265','Supraglottic hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.'),('HP:0410266','Visceral hemangioma','A hemangioma arising from within visceral structures, the internal organs of the body.'),('HP:0410267','Intestinal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.'),('HP:0410268','Spleen hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.'),('HP:0410269','Labial hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.'),('HP:0410270','Esophageal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.'),('HP:0410271','Laryngeal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.'),('HP:0410272','Vulvar hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.'),('HP:0410273','Retropharyngeal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.'),('HP:0410274','Paraspinal hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.'),('HP:0410275','Lumbosacral hemangioma','A spinal cord hemangioma located in the lumbosacral spine region.'),('HP:0410276','Supraumbilical raphe','An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).'),('HP:0410277','Sternal pit','A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.'),('HP:0410278','Pituitary gland cyst','A fluid-filled sacs that develop on or near the pituitary gland.'),('HP:0410279','Atrophic pituitary gland','Partial or complete wasting (loss) of the pituitary gland.'),('HP:0410280','Pediatric onset','Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.'),('HP:0410281','Dyspepsia','A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.'),('HP:0410282','Abnormal circulating amylase level','A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.'),('HP:0410283','Positive blood acetaminophen test','Detection of acetaminophen in the blood.'),('HP:0410284','Positive norpropoxyphene blood test','Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.'),('HP:0410285','Positive meconium methadone test','Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.'),('HP:0410286','Positive blood molindone test','Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.'),('HP:0410287','Intrathoracic hemangioma','A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.'),('HP:0410288','Hyperamylasemia','Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.'),('HP:0410289','Hypoamylasemia','Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.'),('HP:0410290','Positive urine norpropoxyphene test','Detection of norpropoxyphene in urine.'),('HP:0410291','Negativism','Opposing or not responding to instructions or external stimuli.'),('HP:0410292','Abnormal isohemagglutinin level','An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).'),('HP:0410293','Absent isohemagglutinin level','Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).'),('HP:0410294','Decreased specific antibody response to protein vaccine','A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0410295','Complete or near-complete absence of specific antibody response to tetanus vaccine','The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410296','Complete or near-complete absence of specific antibody response to hepatitis B vaccine','The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.'),('HP:0410297','Partial absence of specific antibody response to tetanus vaccine','A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410298','Partial absence of specific antibody response to hepatitis B vaccine','A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.'),('HP:0410299','Decreased specific antibody response to polysaccharide vaccine','A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0410300','Complete or near-complete absence of specific antibody response to pneumococcus vaccine','The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410301','Partial absence of specific antibody response to pneumococcus vaccine','A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410302','Decreased specific antibody response to protein-conjugated polysaccharide vaccine','A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.'),('HP:0410303','Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine','The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.'),('HP:0410304','Complete or near-complete absence of specific antibody response to meningococcus vaccine','The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410305','Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine','A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.'),('HP:0410306','Partial absence of specific antibody response to meningococcus vaccine','A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.'),('HP:0410307','Positive stool methadone test','Detection of methadone and its metabolites in the stool.'),('HP:0410308','Decreased specific antibody response to infection','A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.'),('HP:0410309','Alpha-aminoadipic aciduria','A increased concentration of alpha-aminoadipic acid in the urine.'),('HP:0410310','Abnormality of neutrophil morphology in CSF','An abnormal form or size of neutrophils in the cerebrospinal fluid.'),('HP:0410311','Hyposegmentation of neutrophil nuclei in CSF','Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.'),('HP:0410312','Hypersegmentation of neutrophil nuclei in CSF','An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.'),('HP:0410313','Abnormal urinary 1-methylhistidine concentration','Abnormal concentration of 1-methylhistidine in the urine.'),('HP:0410314','Decreased urinary 1-methylhistidine','Decreased concentration of 1-methylhistidine in the urine.'),('HP:0410315','Increased urinary 1-methylhistidine','Increased concentration of 1-methylhistidine in the urine.'),('HP:0410316','Abnormal urinary 3-methylhistidine concentration','Abnormal concentration of 3-methylhistidine in the urine.'),('HP:0410317','Increased urinary 3-methylhistidine','Increased concentration of 3-methylhistidine in the urine.'),('HP:0410318','Decreased urinary 3-methylhistidine','Decreased concentration of 3-methylhistidine in the urine.'),('HP:0410319','Alpha-gal allergy','Hypersensitivity in form of an adverse immune reaction against alpha-gal.'),('HP:0410320','Animal protein allergy','Hypersensitivity in form of an adverse immune reaction against animal proteins.'),('HP:0410321','Animal dander allergy','Hypersensitivity in form of an adverse immune reaction against animal dander.'),('HP:0410322','Bacteria allergy','Hypersensitivity in form of an adverse immune reaction against bacteria.'),('HP:0410323','Drug allergy','Hypersensitivity in form of an adverse immune reaction against drugs.'),('HP:0410324','Dust mite allergy','Hypersensitivity in form of an adverse immune reaction against dust mites.'),('HP:0410325','House dust mite allergy','Hypersensitivity in form of an adverse immune reaction against house dust mites.'),('HP:0410326','Feather allergy','Hypersensitivity in form of an adverse immune reaction against feathers.'),('HP:0410327','Dairy allergy','Hypersensitivity in form of an adverse immune reaction against dairy.'),('HP:0410328','Egg allergy','Hypersensitivity in form of an adverse immune reaction against eggs.'),('HP:0410329','Gluten allergy','Hypersensitivity in form of an adverse immune reaction against gluten.'),('HP:0410330','Meat allergen allergy','Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.'),('HP:0410331','Nut food product allergy','Hypersensitivity in form of an adverse immune reaction against nut food products.'),('HP:0410332','Plant based food allergy','Hypersensitivity in form of an adverse immune reaction against plant based food allergens.'),('HP:0410333','Seafood allergy','Hypersensitivity in form of an adverse immune reaction against seafood.'),('HP:0410334','Fungi allergy','Hypersensitivity in form of an adverse immune reaction against fungus.'),('HP:0410335','Insect allergy','Hypersensitivity in form of an adverse immune reaction against insects.'),('HP:0410336','Venom allergy','Hypersensitivity in form of an adverse immune reaction against insect venom.'),('HP:0410337','Parasite allergy','Hypersensitivity in form of an adverse immune reaction against parasites.'),('HP:0410338','Plant product allergy','Hypersensitivity in form of an adverse immune reaction against plant products.'),('HP:0410339','Insect bite allergy','Hypersensitivity in form of an adverse immune reaction against insect bites.'),('HP:0410340','Focal epithelial hyperplasia of oral mucosa','The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.'),('HP:0410341','Abnormal circulating heparan sulfate level','An abnormal level of heparan sulfate in the blood.'),('HP:0410342','Increased circulating heparan sulfate level','An abnormal increase in the concentration of heparan sulfate in the blood.'),('HP:0410343','Decreased circulating heparan sulfate level','An abnormal decrease in the concentration of heparan sulfate in the blood.'),('HP:0410344','Shortened O-fucosylated glycan on properdin','Decreased length of O-fucosylated glycans present on properdin.'),('HP:0410345','Increased urinary polyhexose','An abnormal increase in the concentration of polyhexose in the urine.'),('HP:0410346','Increased urinary galactosylated oligosaccharide','An abnormal increase in the concentration of galactosylated oligosaccharides in urine.'),('HP:0410347','Increased urinary high-mannose-type oligosaccharide','An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.'),('HP:0410348','Increased urinary multiantennary sialylated oligosaccharide','An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.'),('HP:0410349','Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level','An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.'),('HP:0410350','Increased urinary fucosylated oligosaccharide','An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.'),('HP:0410351','Abnormal complex N-glycan level','An abnormal concentration of complex N-glycans on glycoproteins.'),('HP:0410352','Increased complex N-glycan level','An abnormal increase in the concentration of complex N-glycans on glycoproteins.'),('HP:0410353','Decreased complex N-glycan level','An abnormal decrease in the concentration of complex N-glycans on glycoproteins.'),('HP:0410354','Increased sialylated N-glycan level','An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.'),('HP:0410355','Decreased sialylated N-glycan level','An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.'),('HP:0410356','Abnormal high-mannose N-glycan level','An abnormal concentration of high-mannose N-glycans on glycoproteins.'),('HP:0410357','Increased high-mannose N-glycan level','An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.'),('HP:0410358','Decreased high-mannose N-glycan level',''),('HP:0410359','Abnormal core 1 O-glycan level','An abnormal in the concentration of core 1 O-glycans on glycoproteins.'),('HP:0410360','Increased core 1 O-glycan level','An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.'),('HP:0410361','Decreased core 1 O-glycan level','An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.'),('HP:0410362','Decreased O-mannosyl glycans on alpha-dystroglycan','Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.'),('HP:0410363','Increased monosialylated core 1 O-glycan level','An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.'),('HP:0410364','Decreased monosialylated core 1 O-glycan level','An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.'),('HP:0410365','Increased disialylated core 1 O-glycan level','An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.'),('HP:0410366','Increased globoside Gb4 level','An abnormal increase in the concentration of globoside Gb4.'),('HP:0410367','Increased hepatitis A virus antibody level','An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.'),('HP:0410368','Increased globoside Gb3 level','An abnormal increase in the concentration of glycolipid globoside Gb3.'),('HP:0410369','Increased hepatitis B virus antibody level','An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.'),('HP:0410370','Absence of ganglioside GM3','The absence of ganglioside GM3.'),('HP:0410371','Increased hepatitis C virus antibody level','An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.'),('HP:0410372','Increased Tn-antigen level','An abnormal increase in the concentration of Tn antigen on glycoproteins.'),('HP:0410373','Abnormal proportion of naive CD4 T cells','Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.'),('HP:0410374','Abnormal proportion of naive CD8 T cells','Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.'),('HP:0410375','Increased proportion of naive CD4 T cells',''),('HP:0410376','Increeased proportion of naive CD8 T cells','An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.'),('HP:0410377','Decreased proportion of naive CD8 T cells','An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.'),('HP:0410378','Decreased proportion of naive CD4 T cells','An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.'),('HP:0410379','Abnormal proportion of CD4-positive, alpha-beta memory T cells','An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410380','Abnormal proportion of CD8-positive, alpha-beta memory T cells','An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410381','Abnormal proportion of central memory CD4-positive, alpha-beta T cells','An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410382','obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells',''),('HP:0410383','Abnormal proportion of effector memory CD8-positive, alpha-beta T cells','An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410384','Abnormal proportion of central memory CD8-positive, alpha-beta T cells','An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410385','Decreased proportion of CD8-positive, alpha-beta memory T cells','Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410386','Decreased proportion of CD4-positive, alpha-beta memory T cells','Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410387','obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells',''),('HP:0410388','Decreased proportion of central memory CD4-positive, alpha-beta T cells','A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410389','Decreased proportion of central memory CD8-positive, alpha-beta T cells','A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410390','Decreased proportion of effector memory CD8-positive, alpha-beta T cells','A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410391','Increased proportion of CD4-positive, alpha-beta memory T cells','An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410392','Increased proportion of CD8-positive, alpha-beta memory T cells','An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.'),('HP:0410393','Increased proportion of central memory CD4-positive, alpha-beta T cells','An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410394','Increased proportion of effector memory CD4-positive, alpha-beta T cells','An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410395','Increased proportion of effector memory CD8-positive, alpha-beta T cells','An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410396','Increased proportion of central memory CD8-positive, alpha-beta T cells','An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.'),('HP:0410397','Bronchiolectasis','Saccular dilatation of the terminal bronchioles.'),('HP:0410399','Positive blood lead test','Detection of lead in the blood.'),('HP:0410400','Absent sebaceous glands','Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.'),('HP:0410401','Worse in evening','Applies to a sign or symptom that is exacerbated in the evening as compared to the day.'),('HP:0430000','Abnormality of the frontal bone','An abnormality of the frontal bone.'),('HP:0430002','Abnormality of the lacrimal bone','An abnormality of the lacrimal bone.'),('HP:0430003','Abnormality of the palatine bone','An abnormality of the palatine bone.'),('HP:0430004','Frontomalar faciosynostosis',''),('HP:0430005','Abnormality of ethmoid bone','An abnormality of the ethmoid bone'),('HP:0430006','Ectopic cilia of eyelid','An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.'),('HP:0430007','Symblepharon','A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.'),('HP:0430008','Accessory eyelid','The presence of more than the normal number of eyelids.'),('HP:0430009','Hypoplasia of eyelid','Developmental hypoplasia of the eyelid.'),('HP:0430010','Microblepharia','Abnormal shortness of the vertical dimensions of the eyelids.'),('HP:0430011','Defect of palpebral conjunctiva','An abnormality of the palpebral conjunctiva.'),('HP:0430012','Incomplete ossification of palatine bone','Failure to complete ossification (maturation and calcification) of the palatine bone.'),('HP:0430013','Absent palatine bone ossification','Lack of formation of the palatine bone.'),('HP:0430014','Abnormality of musculature of soft palate','An abnormality of one or more of the five muscles of the soft palate.'),('HP:0430015','Abnormal morphology of musculature of pharynx','An abnormality of any of the muscles of the pharynx.'),('HP:0430016','Abnormality of tensor veli palatini muscle','An abnormality of the tensor veli palatini muscle'),('HP:0430017','Abnormality of uvular muscle','An abnormality of the uvular muscle'),('HP:0430018','Abnormality of nasal musculature','An abnormality of the muscles of the structure of the nose.'),('HP:0430019','Abnormality of muscle of facial expression','An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.'),('HP:0430020','Abnormality of levator labii superioris alaeque nasi muscle','An abnormality of the levator labii superioris alaeque nasi muscle.'),('HP:0430021','Abnormal common carotid artery morphology','An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.'),('HP:0430022','Abnormality of the sphenoid sinus','An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.'),('HP:0430023','Abnormality of the maxillary sinus','An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.'),('HP:0430024','Abnormality of external jugular vein','An abnormality of an external jugular vein of the neck.'),('HP:0430025','Bilateral facial palsy','Two-sided or bilateral weakness of the muscles of facial expression and eye closure.'),('HP:0430026','Abnormality of the shape of the midface','An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims.'),('HP:0430028','Hyperplasia of the maxilla','Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.'),('HP:0430029','Hyperplasia of the premaxilla','An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.'),('HP:0500001','Body odor','A perceived unpleasant smell given off by the body.'),('HP:0500005','Anal pain','Pain in and around the anus or rectum (perianal region).'),('HP:0500006','Urethritis','Inflammation of the urethra.'),('HP:0500007','Iris flocculi','Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.'),('HP:0500008','Cornea verticillata','Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.'),('HP:0500009','Dysplastic gangliocytoma of the cerebellum','It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.'),('HP:0500010','obsolete Increased cholesterol esters',''),('HP:0500011','Moon facies','A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.'),('HP:0500012','Abnormality of gonadotropin-releasing hormone level','A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.'),('HP:0500013','Lack of gonadotropin-releasing hormone pulsatility','Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.'),('HP:0500014','obsolete Abnormal test result',''),('HP:0500015','Abnormal cardiac test','Abnormal test result of cardiovascular physiology.'),('HP:0500016','Abnormal cardiac MRI','Abnormal results of a MRI for the heart.'),('HP:0500017','Abnormal cardiac catheterization','Abnormal results from the diagnostic tests resulting from cardiac catheterization.'),('HP:0500018','Abnormal cardiac exercise stress test','Abnormal results of exercise on heart function.'),('HP:0500019','Abnormal resting energy expenditure from metabolic cart test','Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).'),('HP:0500020','Abnormal cardiac biomarker test','Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.'),('HP:0500021','Reduced brain gamma-aminobutyric acid level by MRS','An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).'),('HP:0500022','Abnormal serum dehydroepiandrosterone level','A deviation from the normal concentration of dehydroepiandrosterone in the circulation.'),('HP:0500023','Shoulder muscle aplasia','Absence of shoulder muscles.'),('HP:0500024','Aplasia of the musculature of the pelvis','Absence of the musculature of the pelvis.'),('HP:0500026','Hypoplasia of the musculature of the pelvis','Underdevelopment of the musculature of the pelvis.'),('HP:0500027','Aplastic colon','Congenital absence of the colon'),('HP:0500028','Cotton wool plaques','Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.'),('HP:0500030','Abnormal hepatic glycogen storage','Change in normal glycogen storage content.'),('HP:0500031','Sclerosis of the carpal bones','An elevation in bone density in one or more carpal bones of the hand.'),('HP:0500032','Abnormal neuron branching','Abnormality of the structure and branching of the dendrites of a neuron.'),('HP:0500033','Abnormal natural killer subset distribution','Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.'),('HP:0500034','Nasolacrimal sac obstruction','Blockage of the nasolacrimal sac.'),('HP:0500035','Nasolacrimal sac granuloma','A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.'),('HP:0500036','Nasolacrimal sac papilloma','Benign tumor of the nasolacrimal sac.'),('HP:0500037','Nasolacrimal sac epithelial papillary carcinoma','The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.'),('HP:0500039','Conjunctival cicatrization','An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.'),('HP:0500040','Dermolipoma of the conjunctiva','A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.'),('HP:0500041','Myopic astigmatism','A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.'),('HP:0500042','Latent hypermetropia','A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.'),('HP:0500043','Eyelid retraction','With the eyes in primary position, the sclera is visible above the superior corneal limbus.'),('HP:0500044','Upper eyelid retraction','An elevation of the eyelid above the normal level in the primary position.'),('HP:0500045','Collier`s sign','A unilateral or bilateral eyelid retraction due to midbrain lesions.'),('HP:0500046','Seborrhoeic blepharitis','Inflamation of the eyelid due to overactivity of the sebaceous gland.'),('HP:0500047','Nasolacrimal sac lymphoma','A type of lymphoma that involves the nasolacrimal sac.'),('HP:0500048','Delayed canalization of nasolacrimal duct','A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.'),('HP:0500049','Retinopathy of prematurity','An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.'),('HP:0500050','Retinopathy of prematurity stage 1','The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.'),('HP:0500051','Retinopathy of prematurity stage 2','The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.'),('HP:0500052','Retinopathy of prematurity stage 3','The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.'),('HP:0500053','Retinopathy of prematurity stage 4','Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.'),('HP:0500054','Retinopathy of prematurity stage 4a','A detachment that involves the peripheral retina that does not extend into the macula.'),('HP:0500055','Retinopathy of prematurity stage 4b','A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.'),('HP:0500056','Retinopathy of prematurity stage 5','Funnel detachment from the retina with generally traction in all four quadrants.'),('HP:0500057','Retinopathy of prematurity stage 5a','An open funnel detachment of the retina with generally traction in all four quadrants.'),('HP:0500058','Retinopathy of prematurity stage 5b','A closed funnel detachment of the retina with generally traction in all four quadrants.'),('HP:0500059','Retinopathy of prematurity zone I','Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.'),('HP:0500060','Retinopathy of prematurity zone II','Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.'),('HP:0500061','Retinopathy of prematurity zone III','Retinopathy which is a residual crescent of retina anterior to zone II.'),('HP:0500062','Retinopathy of prematurity plus','Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.'),('HP:0500063','Retinopathy of prematurity pre-plus','As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.'),('HP:0500064','Retinopathy of prematurity threshold','A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.'),('HP:0500065','Retinopathy of prematurity prethreshold','High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.'),('HP:0500066','Latent myopia','The difference between total and manifest myopia.'),('HP:0500069','Paralytic ectropion','A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.'),('HP:0500070','Conjunctival dermolipoma','A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.'),('HP:0500072','Absolute eccentric fixation','Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.'),('HP:0500073','Abnormal ocular alignment','Any deviation from the normal ocular alignment.'),('HP:0500074','Dissociated vertical deviation','An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.'),('HP:0500075','Dissociated horizontal deviation','A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.'),('HP:0500076','Alternating hypertropia','A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.'),('HP:0500077','Alternating hyperphoria','A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.'),('HP:0500078','Alternating hypotropia','A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.'),('HP:0500079','Alternating hypophoria','A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.'),('HP:0500081','Pseudophakia','The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).'),('HP:0500086','Optic nerve gray crescent','Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.'),('HP:0500087','Peripapillary atrophy','Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.'),('HP:0500088','Foveal depigmentation','Loss of pigment in the fovea centralis.'),('HP:0500089','Optic nerve sheath meningioma','A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.'),('HP:0500090','Periocular capillary hemangioma','A capillary hemangioma surrounding the eyeball but within the orbit.'),('HP:0500091','Lymphangioma of the orbit','A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.'),('HP:0500092','Orbital rhabdomyosarcoma','A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.'),('HP:0500093','Food allergy','Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.'),('HP:0500094','Latex allergy','Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.'),('HP:0500095','Food-induced anaphylaxis','Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.'),('HP:0500096','Venom-induced anaphylaxis','A form of anaphylaxis that is triggered by exposure to venom.'),('HP:0500097','Stool xenobiotic','Presence of xenobiotic in stool.'),('HP:0500098','Meconium xenobiotic','Presence of a xenobiotic in meconium.'),('HP:0500099','Hair xenobiotic','Presence of xenobiotic in hair.'),('HP:0500100','Plasma/serum xenobiotic','Presence of a xenobiotic in plasma and/or serum.'),('HP:0500101','Gastric fluid xenobiotic','Presence of a xenobiotic in gastric fluid.'),('HP:0500104','Decreased diastolic blood pressure','Abnormal decrease in diastolic blood pressure.'),('HP:0500105','Decreased systolic blood pressure','Abnormal decrease in systolic blood pressure.'),('HP:0500106','Isolated systolic hypertension','Elevated systolic blood pressure without an elevated blood pressure.'),('HP:0500107','Isolated diastolic hypotension','A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).'),('HP:0500108','Positive urine cocaine test','Detection of cocaine or its major metabolite, benzoylecgonine, in urine.'),('HP:0500109','Positive urine barbiturate test','Detection of barbiturate metabolites such as Phenobarbital in urine.'),('HP:0500110','Positive urine cannabinoid test','Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.'),('HP:0500111','Positive urine benzodiazepines test','Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.'),('HP:0500112','Positive urine amphetamine test','Detection of amphetamine or its metabolites in urine.'),('HP:0500113','Positive urine opioid test','Detection of opioids or opioid metabolites in urine.'),('HP:0500114','Abnormal stool urobilinogen concentration','Abnormal concentration of urobilinogen present in the stool.'),('HP:0500115','Increased stool urobilinogen concentration','An increased amount of urobilinogen present in the stool.'),('HP:0500116','Positive blood barbiturate test','Detection of barbiturate metabolites such as Phenobarbital in blood.'),('HP:0500117','Abnormal CSF urate concentration','Abnormal concentration of urate in the cerebrospinal fluid (CSF).'),('HP:0500132','Hypovalinemia','A decreased amount of valine in the blood.'),('HP:0500133','Hypotyrosinemia','An decreased concentration of tyrosine in the blood.'),('HP:0500134','Hypertryptophanemia','An increased amount of tryptophan in the blood.'),('HP:0500135','Hypotryptophanemia','A decreased amount of tryptophan in the blood.'),('HP:0500136','Hypothreoninemia','A decreased amount of threonine in the blood.'),('HP:0500138','Hyperserinemia','An increased amount of serine in the blood.'),('HP:0500139','Hypoprolinemia','A decreased amount of proline in the blood.'),('HP:0500140','Decreased circulating hydroxyproline concentration','A decreased amount of hydroxyproline in the blood.'),('HP:0500141','Hypophenylalaninemia','A decreased amount of phenylalanine in the blood.'),('HP:0500142','Hypolysinemia','A decreased amount of lysine in the blood.'),('HP:0500143','Hypoleucinemia','Decreased amount of leucine in the blood.'),('HP:0500144','Hypoisoleucinemia','A decreased amount of isoleucine in the blood.'),('HP:0500145','Hypohistidinemia','A decreased amount of histidine in the blood.'),('HP:0500147','Hypoglutaminemia','Decreased amount of glutamine in the blood.'),('HP:0500148','Abnormal circulating glutamate concentration','Any deviation from the normal concentration of glutamate in the blood circulation.'),('HP:0500149','Hyperglutamatemia','An increased amount of glutamate in the blood.'),('HP:0500150','Hypoglutamatemia','A decreased amount of glutamate in the blood.'),('HP:0500151','Hypercystinemia','An increased amount of cystine in the blood.'),('HP:0500152','Hypocystinemia','A decreased amount of cystine in the blood.'),('HP:0500153','Hyperargininemia','An increased amount of arginine levels in the blood.'),('HP:0500154','Hypoalaninemia','A decreased amount of alanine in the blood.'),('HP:0500155','Abnormal circulating asparagine concentration','Any deviation from the normal concentration of asparagine in the blood circulation.'),('HP:0500156','Hyperasparaginemia','An increased amount of asparagine in the blood.'),('HP:0500157','Hypoasparaginemia','A decreased amount of asparagine in the blood.'),('HP:0500158','Abnormal circulating aspartic acid concentration','Any deviation from the normal concentration of aspartate in the blood circulation.'),('HP:0500159','Increased level of circulating aspartic acid','An increased amount of aspartic acid in the blood.'),('HP:0500160','Abnormal circulating carnosine concentration','Any deviation from the normal concentration of carnosine in the blood circulation.'),('HP:0500161','Increased level of carnosine in blood','An increased amount of carnosine in the blood.'),('HP:0500162','Decreased level of carnosine in blood','A decreased amount of carnosine in bood.'),('HP:0500163','Hypoornithinemia','An abnormal decrease in ornithine in the blood.'),('HP:0500164','Abnormal blood carbon dioxide level','An abnormality of carbon dioxide (CO2) in the arterial blood.'),('HP:0500165','Abnormal blood oxygen level','An abnormality of the partial pressure of oxygen in the arterial blood.'),('HP:0500166','Abnormal circulating gastrin level','An abnormal concentration of gastrin in the blood.'),('HP:0500167','Hypergastrinemia','An elevated amount of gastrin in the blood.'),('HP:0500170','Abnormal concentration of acylcarnitine in the urine','An abnormal amount of acylcarnitine in the urine.'),('HP:0500173','Reflex asystolic syncope','A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.'),('HP:0500180','Abnormal circulating amino sulfonic acid concentration',''),('HP:0500181','Hypertaurinemia','An increased amount of taurine in the blood.'),('HP:0500182','Hypotaurinemia','A decreased amount of taurine in the blood.'),('HP:0500183','Abnormal CSF carboxylic acid concentration','Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.'),('HP:0500184','Abnormal CSF amino acid concentration','Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.'),('HP:0500185','Abnormal CSF branched chain amino acid concentration','Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.'),('HP:0500186','Abnormal CSF valine concentration','Any deviation from the normal concentration of valine in the cerebrospinal fluid.'),('HP:0500187','Increased CSF valine concentration','Any increased amount from normal of valine in the cerebrospinal fluid.'),('HP:0500188','Decreased CSF valine concentration','Any decreased amount from normal of valine in the cerebrospinal fluid.'),('HP:0500189','Abnormal CSF leucine concentration','Any deviation from the normal concentration of leucine in the cerebrospinal fluid.'),('HP:0500190','Decreased CSF leucine concentration','Abnormally decreased levels of leucine in the cerebrospinal fluid.'),('HP:0500191','Increased CSF leucine concentration','Abnormally increased levels of leucine in cerebrospinal fluid.'),('HP:0500192','Abnormal CSF isoleucine concentration','Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.'),('HP:0500193','Increased CSF isoleucine concentration','Abnormally increased levels of isoleucine in cerebrospinal fluid.'),('HP:0500194','Decreased CSF isoleucine concentration','Abnormally decreased levels of isoleucine in cerebrospinal fluid.'),('HP:0500195','Abnormal CSF glutamine family amino acid concentration','Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.'),('HP:0500196','Abnormal CSF glutamine concentration','Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.'),('HP:0500197','Increased CSF glutamine concentration','Abnormally increased levels of glutamine in cerebrospinal fluid.'),('HP:0500198','Decreased CSF glutamine concentration','Abnormally decreased levels of glutamine in cerebrospinal fluid.'),('HP:0500199','Abnormal CSF glutamate concentration','Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.'),('HP:0500200','Increased CSF glutamate concentration','Abnormally increased levels of glutamic acid in cerebrospinal fluid.'),('HP:0500201','Decreased CSF glutamate concentration','Abnormally decreased levels of glutamic acid in cerebrospinal fluid.'),('HP:0500202','Abnormal CSF arginine concentration','Any deviation from the normal concentration of arginine in the cerebrospinal fluid.'),('HP:0500203','Increased CSF arginine concentration','Abnormally increased levels of arginine in cerebrospinal fluid.'),('HP:0500204','Decreased CSF arginine concentration','Abnormally decreased levels of arginine in cerebrospinal fluid.'),('HP:0500205','Abnormal CSF aspartate family amino acid concentration','Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.'),('HP:0500206','Abnormal CSF lysine concentration','Any deviation from the normal concentration of lysine in the cerebrospinal fluid.'),('HP:0500207','Decreased CSF lysine concentration','Abnormally decreased levels of lysine in cerebrospinal fluid.'),('HP:0500208','Increased CSF lysine concentration','Abnormally increased levels of lysine in cerebrospinal fluid.'),('HP:0500209','Abnormal CSF methionine concentration','Any deviation from the normal concentration of methionine in the cerebrospinal fluid.'),('HP:0500210','Increased CSF methionine concentration','Abnormally increased levels of methionine in cerebrospinal fluid.'),('HP:0500211','Abnormal CSF threonine concentration','Any deviation from the normal concentration of threonine in the cerebrospinal fluid.'),('HP:0500212','Increased CSF threonine concentration','Abnormally increased levels of threonine in cerebrospinal fluid.'),('HP:0500213','Decreased CSF threonine concentration','Abnormally decreased levels of threonine in cerebrospinal fluid.'),('HP:0500214','Abnormal CSF aromatic amino acid concentration','Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.'),('HP:0500215','Abnormal CSF phenylalanine concentration','Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.'),('HP:0500216','Abnormal CSF aspartate concentration','Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.'),('HP:0500217','Increased CSF aspartate concentration','Abnormally increased levels of aspartic acid in cerebrospinal fluid.'),('HP:0500218','Abnormal CSF tryptophan concentration','Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.'),('HP:0500219','Abnormal CSF tyrosine concentration','Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.'),('HP:0500220','Increased CSF tyrosine concentration','Abnormally increased levels of tyrosine in cerebrospinal fluid.'),('HP:0500221','Decreased CSF tyrosine concentration','Abnormally decreased levels of tyrosine in cerebrospinal fluid.'),('HP:0500222','Increased CSF tryptophan concentration','Abnormally increased levels of tryptophan in cerebrospinal fluid.'),('HP:0500223','Increased CSF phenylalanine concentration','Abnormally increased levels of phenylalanine in cerebrospinal fluid.'),('HP:0500224','Decreased CSF phenylalanine concentration','Abnormally decreased levels of phenylalanine in cerebrospinal fluid.'),('HP:0500225','Abnormal CSF serine family amino acid concentration','Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.'),('HP:0500226','Abnormal CSF serine concentration','Any deviation from the normal concentration of serine in the cerebrospinal fluid.'),('HP:0500227','Increased CSF serine concentration','Abnormally increased levels of serine in cerebrospinal fluid.'),('HP:0500228','Decreased CSF serine concentration','Abnormally decreased levels of serine in cerebrospinal fluid.'),('HP:0500229','Abnormal CSF glycine concentration','Any deviation from the normal concentration of glycine in the cerebrospinal fluid.'),('HP:0500230','Increased CSF glycine concentration','Abnormally increased levels of glycine in cerebrospinal fluid.'),('HP:0500231','Abnormal CSF pyruvate family amino acid concentration','Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.'),('HP:0500232','Abnormal CSF alanine concentration','Any deviation from the normal concentration of alanine in the cerebrospinal fluid.'),('HP:0500233','Increased CSF alanine concentration','Abnormally increased levels of alanine in cerebrospinal fluid.'),('HP:0500234','Decreased CSF alanine concentration','Abnormally decreased levels of alanine in cerebrospinal fluid.'),('HP:0500235','Abnormal CSF histidine concentration','Any deviation from the normal concentration of histidine in the cerebrospinal fluid.'),('HP:0500236','Increased CSF histidine concentration','Abnormally increased levels of histidine in cerebrospinal fluid.'),('HP:0500237','Decreased CSF histidine concentration','Abnormally decreased levels of histidine in cerebrospinal fluid.'),('HP:0500238','Abnormal CSF albumin concentration','Any deviation from the normal concentration of albumin in the cerebrospinal fluid.'),('HP:0500239','Increased CSF albumin concentration',''),('HP:0500240','Abnormal CSF carnosine concentration','Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.'),('HP:0500241','Abnormal CSF homocarnosine concentration','Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.'),('HP:0500242','Increased CSF homocarnosine concentration','Abnormally increased levels of homocarnosine in cerebrospinal fluid.'),('HP:0500243','Abnormal CSF ornithine concentration','Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.'),('HP:0500244','Increased CSF ornithine concentration','Abnormally increased levels of ornithine in cerebrospinal fluid.'),('HP:0500245','Abnormal CSF citrulline concentration','Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.'),('HP:0500246','Increased CSF citrulline concentration','Abnormally increased levels of citrulline in cerebrospinal fluid.'),('HP:0500247','Abnormal CSF alpha-aminobutyrate concentration','Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.'),('HP:0500248','Increased CSF alpha-aminobutyrate concentration','Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.'),('HP:0500249','Abnormal circulating ethanolamine concentration','Any deviation from the normal concentration of ethanolamine in circulation.'),('HP:0500250','Increased circulating ethanolamine concentration','Abnormally increased levels of ethanolamine in circulation.'),('HP:0500251','Abnormal urine sebacic acid concentration','Abnormal concentration of sebacic acid in the urine.'),('HP:0500252','Increased urine sebacic acid concentration','Elevated concentration of sebacic acid in the urine.'),('HP:0500253','Increased level of gamma-aminobutyric acid in urine','Elevated concentration of gamma-aminobutyric acid in the urine.'),('HP:0500254','Abnormal urine hexanoylglycine concentration','Abnormal concentration of hexanoylglycine in the urine.'),('HP:0500255','Increased level of hexanoylglycine in urine','Elevated concentration of hexanoylglycine in the urine.'),('HP:0500256','Abnormal urine isobutyrylglycine concentration','Abnormal concentration of isobutyrylglycine in the urine.'),('HP:0500257','Increased urine isobutyrylglycine concentration','Elevated concentration of isobutyrylglycine in the urine.'),('HP:0500258','Abnormal carbon dioxide level in cord blood','Abnormal amount of carbon dioxide in umbilical cord blood'),('HP:0500259','Abnormal oxygen level in cord blood','An abnormal level of blood oxygen in the cord blood.'),('HP:0500260','Triggered by head trauma','Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.'),('HP:0500261','Triggered by anesthetics','Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.'),('HP:0500262','Atrichia','The most dramatic and severe form of hair loss characterized by an absence of hair follicles.'),('HP:0500263','Abnormal helper T cell proportion','Abnormal proportion of helper T cells relative to the total number of T cells.'),('HP:0500264','Increased helper T cell proportion','Increased proportion of helper T cells relative to the total number of T cells.'),('HP:0500265','Increased proportion of CD8-positive, alpha-beta TEMRA T cells','An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.'),('HP:0500266','Decreased proportion of CD8-positive, alpha-beta TEMRA T cells','An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.'),('HP:0500267','Abnormal proportion of CD4-positive helper T cells','An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.'),('HP:0500269','Abnormal proportion of gamma-delta T cells','Abnormal proportion of gamma-delta T cells relative to the total number of T cells.'),('HP:0500270','Increased proportion of gamma-delta T cells','Increased proportion of gamma-delta T cells relative to the total number of T cells.'),('HP:0500271','Decreased proportion of gamma-delta T cells','Decreased proportion of gamma-delta T cells relative to the total number of T cells.'),('HP:0500272','Abnormal proportion of immature gamma-delta T cells','Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.'),('HP:0500273','Increased proportion of immature gamma-delta T cells','Increased proportion of immature gamma-delta T cells relative to the total number of T cells.'),('HP:0500274','Decreased proportion of immature gamma-delta T cells','Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.'),('HP:0550003','Proximal scleroderma','Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.'),('HP:0550004','Verruca plana','Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.'),('HP:0550005','Bilateral basilar pulmonary fibrosis','It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.'),('HP:3000001','obsolete Abnormal heart morphology',''),('HP:3000002','Abnormal inner ear epithelium morphology','Any structural anomaly of an inner ear epithelium.'),('HP:3000003','Abnormal mandibular ramus morphology','An abnormality of a mandibular ramus.'),('HP:3000004','Abnormality of frontalis muscle belly','An abnormality of a frontalis muscle belly.'),('HP:3000005','Abnormality of masseter muscle','An abnormality of a masseter muscle.'),('HP:3000006','Abnormality of medial pterygoid muscle','An abnormality of a medial pterygoid muscle.'),('HP:3000007','Abnormality of mentalis muscle','An abnormality of a mentalis muscle.'),('HP:3000008','Abnormality of mylohyoid muscle','An abnormality of a mylohyoid muscle.'),('HP:3000009','Abnormality of nasalis muscle','An abnormality of a nasalis muscle.'),('HP:3000010','Abnormality of orbicularis oris muscle','An abnormality of an orbicularis oris muscle.'),('HP:3000011','Abnormality of palatoglossus muscle','An abnormality of a palatoglossus muscle.'),('HP:3000012','Abnormality of palatopharyngeus muscle','An abnormality of a palatopharyngeus muscle.'),('HP:3000013','Abnormality of platysma','An abnormality of the platysma muscle.'),('HP:3000014','Abnormality of procerus muscle','An abnormality of a procerus.'),('HP:3000015','Abnormality of risorius muscle','An abnormality of a risorius muscle.'),('HP:3000016','Abnormality of styloglossus muscle','An abnormality of the styloglossus muscle.'),('HP:3000017','Abnormality of temporalis muscle','An abnormality of a temporalis muscle.'),('HP:3000018','Abnormality of zygomaticus major muscle','An abnormality of a zygomaticus major muscle.'),('HP:3000019','Abnormality of buccal mucosa','An abnormality of a buccal mucosa.'),('HP:3000020','Abnormality of zygomaticus minor muscle','An abnormality of a zygomaticus minor muscle.'),('HP:3000021','Abnormality of buccal fat pad','An abnormality of a buccal fat pad.'),('HP:3000022','Abnormality of cartilage of external ear','An abnormality of a cartilage of external ear.'),('HP:3000023','Abnormality of angular artery','An abnormality of the angular artery, the terminal branch of the facial artery.'),('HP:3000024','Abnormal facial artery morphology','Any structural abnormality of a facial artery, one of the branches of the external carotid artery.'),('HP:3000025','Abnormality of ciliary ganglion','An abnormality of a ciliary ganglion.'),('HP:3000026','obsolete Abnormality of common carotid artery plus branches',''),('HP:3000027','Abnormality of buccinator muscle','An abnormality of a buccinator muscle.'),('HP:3000028','Abnormality of depressor anguli oris muscle','An abnormality of a depressor anguli oris muscle.'),('HP:3000029','Abnormality of depressor labii inferioris','An abnormality of a depressor labii inferioris.'),('HP:3000030','Abnormality of bony orbit of skull','An abnormality of an orbit of skull.'),('HP:3000031','Abnormality of anterior ethmoidal artery','An abnormality of an anterior ethmoidal artery.'),('HP:3000032','Abnormality of central retinal artery','An abnormality of a central retinal artery.'),('HP:3000033','Abnormality of nasopharyngeal adenoids','Any abnormality of nasopharyngeal adenoids.'),('HP:3000034','Abnormality of cartilage of nasal septum','An abnormality of a cartilage of nasal septum.'),('HP:3000035','Abnormality of cervical plexus','Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.'),('HP:3000036','Abnormality of head blood vessel','An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.'),('HP:3000037','Abnormality of neck blood vessel','An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.'),('HP:3000038','Abnormal cricoid cartilage morphology','Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.'),('HP:3000039','Abnormality of dorsal nasal artery','An abnormality of a dorsal nasal artery.'),('HP:3000040','Abnormality of ethmoid sinus','An abnormality of an ethmoid sinus.'),('HP:3000041','Abnormality of external carotid artery','An abnormality of an external carotid artery.'),('HP:3000042','Abnormal jugular vein morphology','Any structural abnormality of a jugular vein.'),('HP:3000043','Abnormal facial vein morphology','An abnormality of a facial vein.'),('HP:3000044','Abnormality of frontal process of maxilla','An abnormality of a frontal process of the maxilla bone.'),('HP:3000045','Abnormality of genioglossus muscle','An abnormality of a genioglossus muscle.'),('HP:3000046','Abnormality of geniohyoid muscle','An abnormality of a geniohyoid muscle.'),('HP:3000047','Abnormal glossopharyngeal nerve morphology','Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).'),('HP:3000048','Abnormal great auricular nerve morphology','Any structural anomaly of a great auricular nerve.'),('HP:3000049','Abnormal greater palatine artery morphology','An abnormality of a greater palatine artery.'),('HP:3000050','Abnormality of odontoid tissue','An abnormality of an odontoid tissue.'),('HP:3000051','Abnormal hyoglossus muscle morphology','An abnormality of a hyoglossus muscle.'),('HP:3000052','Abnormality of hyoid bone','An abnormality of a hyoid bone.'),('HP:3000053','Abnormality of hypopharynx','An abnormality of a hypopharynx.'),('HP:3000054','Abnormality of inferior alveolar artery','An abnormality of an inferior alveolar artery.'),('HP:3000055','Abnormality of inferior alveolar nerve','An abnormality of an inferior alveolar nerve.'),('HP:3000056','Abnormality of artery of lower lip','An abnormality of an artery of lower lip.'),('HP:3000057','Abnormality of inferior oblique extraocular muscle','An abnormality of an inferior oblique extraocular muscle.'),('HP:3000058','Abnormality of inferior rectus extraocular muscle','An abnormality of an inferior rectus extraocular muscle.'),('HP:3000059','Abnormal inferior thyroid vein morphology','An abnormality of an inferior thyroid vein.'),('HP:3000060','Abnormality of infraorbital artery','An abnormality of an infraorbital artery.'),('HP:3000061','Abnormality of infra-orbital nerve','A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.'),('HP:3000062','Abnormal internal carotid artery morphology','An abnormality of an internal carotid artery.'),('HP:3000063','Abnormality of internal jugular vein','An abnormality of an internal jugular vein.'),('HP:3000064','Abnormality of intrinsic muscle of tongue','An abnormality of an intrinsic muscle of tongue.'),('HP:3000065','Abnormal lacrimal artery morphology','An abnormality of a lacrimal artery.'),('HP:3000066','Abnormal lacrimal sac morphology','An abnormality of a lacrimal sac.'),('HP:3000067','Abnormal lateral cricoarytenoid muscle morphology','Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.'),('HP:3000068','Abnormality of lateral pterygoid muscle','An abnormality of a lateral pterygoid muscle.'),('HP:3000069','Abnormality of lateral rectus extra-ocular muscle','An abnormality of a lateral rectus extra-ocular muscle.'),('HP:3000070','Abnormality of levator anguli oris','An abnormality of a levator anguli oris.'),('HP:3000071','Abnormality of levator labii superioris','An abnormality of a levator labii superioris.'),('HP:3000072','Abnormal levator palpebrae superioris morphology','An abnormality of a levator palpebrae superioris.'),('HP:3000073','Abnormality of levator veli palatini muscle','An abnormality of a levator veli palatini.'),('HP:3000074','Abnormal lingual artery morphology','Any structural abnormality of a lingual artery.'),('HP:3000075','Abnormal lingual nerve morphology','Any structural anomaly of a lingual nerve.'),('HP:3000076','Abnormality of lingual tonsil','An abnormality of a lingual tonsil.'),('HP:3000077','Abnormal mandible condylar process morphology','An abnormality of a mandible condylar process.'),('HP:3000078','Abnormal mandible coronoid process morphology','An abnormality of a mandible coronoid process.'),('HP:3000079','Abnormality of mandibular symphysis','A structural abnormality of a mandibular symphysis.'); +/*!40000 ALTER TABLE `Symptom` ENABLE KEYS */; +UNLOCK TABLES; + +-- +-- Table structure for table `SymptomInheritance` +-- + +DROP TABLE IF EXISTS `SymptomInheritance`; +/*!40101 SET @saved_cs_client = @@character_set_client */; +/*!40101 SET character_set_client = utf8 */; +CREATE TABLE `SymptomInheritance` ( + `superclass_id` varchar(255) DEFAULT NULL, + `subclass_id` varchar(255) DEFAULT NULL, + KEY `superclass_id` (`superclass_id`), + KEY `subclass_id` (`subclass_id`), + CONSTRAINT `symptominheritance_ibfk_1` FOREIGN KEY (`superclass_id`) REFERENCES `Symptom` (`id`) ON DELETE SET NULL, + CONSTRAINT `symptominheritance_ibfk_2` FOREIGN KEY (`subclass_id`) REFERENCES `Symptom` (`id`) ON DELETE SET NULL +) ENGINE=InnoDB DEFAULT CHARSET=utf8mb4; +/*!40101 SET character_set_client = @saved_cs_client */; + +-- +-- Dumping data for table `SymptomInheritance` +-- + +LOCK TABLES `SymptomInheritance` WRITE; +/*!40000 ALTER TABLE `SymptomInheritance` DISABLE KEYS */; +INSERT INTO `SymptomInheritance` VALUES 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+/*!40000 ALTER TABLE `SymptomInheritance` ENABLE KEYS */; +UNLOCK TABLES; +/*!40103 SET TIME_ZONE=@OLD_TIME_ZONE */; + +/*!40101 SET SQL_MODE=@OLD_SQL_MODE */; +/*!40014 SET FOREIGN_KEY_CHECKS=@OLD_FOREIGN_KEY_CHECKS */; +/*!40014 SET UNIQUE_CHECKS=@OLD_UNIQUE_CHECKS */; +/*!40101 SET CHARACTER_SET_CLIENT=@OLD_CHARACTER_SET_CLIENT */; +/*!40101 SET CHARACTER_SET_RESULTS=@OLD_CHARACTER_SET_RESULTS */; +/*!40101 SET COLLATION_CONNECTION=@OLD_COLLATION_CONNECTION */; +/*!40111 SET SQL_NOTES=@OLD_SQL_NOTES */; + +-- Dump completed on 2020-07-02 17:48:44 diff --git a/Database/insertCorrelations.sql b/Database/insertCorrelations.sql index d677a2f..7c53923 100644 --- a/Database/insertCorrelations.sql +++ b/Database/insertCorrelations.sql @@ -1,6 +1,6 @@ USE RareDiagnostics; -INSERT INTO Correlation VALUES('61','HP:0000158','0.895'), +INSERT INTO Correlations VALUES('61','HP:0000158','0.895'), ('61','HP:0000280','0.895'), ('61','HP:0000365','0.895'), ('61','HP:0000518','0.895'), diff --git a/Database/insertDiseaseSynonyms.sql b/Database/insertDiseaseSynonyms.sql new file mode 100644 index 0000000..2904a0d --- /dev/null +++ b/Database/insertDiseaseSynonyms.sql @@ -0,0 +1,13306 @@ +USE RareDiagnostics; + +INSERT INTO DiseaseSynonyms VALUES('166024','Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome'), +('58','AxD'), +('61','Lysosomal alpha-D-mannosidase deficiency'), +('93','Aspartylglucosaminidase deficiency'), +('585','Juvenile sulfatidosis, Austin type'), +('585','MSD'), +('585','Mucosulfatidosis'), +('118','Beta-mannosidase deficiency'), +('166068','Fetal-onset olivopontocerebellar hypoplasia'), +('166068','PCH5'), +('141','ACY2 deficiency'), +('141','Aminoacylase 2 deficiency'), +('141','Aspartoacylase deficiency'), +('141','Spongy degeneration of the brain'), +('166063','Fatal infantile encephalopathy with olivopontocerebellar hypoplasia'), +('166063','Olivopontocerebellar hypoplasia'), +('166063','PCH4'), +('166073','Fatal infantile encephalopathy with mitochondrial respiratory chain defects'), +('166073','PCH6'), +('213','Protein defect of cystin transport'), +('333','Acid ceramidase deficiency'), +('333','Farber lipogranulomatosis'), +('349','Alpha-L-fucosidase deficiency'), +('365','Alpha-1,4-glucosidase acid deficiency'), +('365','GSD due to acid maltase deficiency'), +('365','GSD type 2'), +('365','GSD type II'), +('365','Glycogen storage disease type 2'), +('365','Glycogen storage disease type II'), +('365','Glycogenosis due to acid maltase deficiency'), +('365','Glycogenosis type 2'), +('365','Glycogenosis type II'), +('365','Pompe disease'), +('366','Amylo-1,6-glucosidase deficiency'), +('366','Cori disease'), +('366','Cori-Forbes disease'), +('366','Forbes disease'), +('366','GDE deficiency'), +('366','GSD due to glycogen debranching enzyme deficiency'), +('366','GSD type 3'), +('366','GSDIII'), +('366','Glycogen storage disease type 3'), +('366','Glycogen storage disease type III'), +('366','Glycogenosis due to glycogen debranching enzyme deficiency'), +('366','Glycogenosis type 3'), +('366','Glycogenosis type III'), +('366','Limit dextrinosis'), +('368','GSD due to muscle glycogen phosphorylase deficiency'), +('368','GSD type 5'), +('368','GSD type V'), +('368','Glycogen storage disease type 5'), +('368','Glycogen storage disease type V'), +('368','Glycogenosis due to muscle glycogen phosphorylase deficiency'), +('368','Glycogenosis type 5'), +('368','Glycogenosis type V'), +('368','McArdle disease'), +('368','Myophosphorylase deficiency'), +('367','Amylopectinosis'), +('367','Andersen disease'), +('367','GSD due to glycogen branching enzyme deficiency'), +('367','GSD type 4'), +('367','GSD type IV'), +('367','Glycogen storage disease type 4'), +('367','Glycogen storage disease type IV'), +('367','Glycogenosis due to glycogen branching enzyme deficiency'), +('367','Glycogenosis type 4'), +('367','Glycogenosis type IV'), +('166100','AD OSMED'), +('166100','Stickler syndrome type 3'), +('166100','Stickler syndrome, non-ocular type'), +('371','GSD due to muscle phosphofructokinase deficiency'), +('371','GSD type 7'), +('371','GSD type VII'), +('371','Glycogen storage disease type 7'), +('371','Glycogen storage disease type VII'), +('371','Glycogenosis due to muscle phosphofructokinase deficiency'), +('371','Glycogenosis type 7'), +('371','Glycogenosis type VII'), +('371','Tarui disease'), +('369','GSD due to liver glycogen phosphorylase deficiency'), +('369','GSD type 6'), +('369','GSD type VI'), +('369','Glycogen storage disease type 6'), +('369','Glycogen storage disease type VI'), +('369','Glycogenosis due to liver glycogen phosphorylase deficiency'), +('369','Glycogenosis type 6'), +('369','Glycogenosis type VI'), +('369','Hepatic glycogen phosphorylase deficiency'), +('369','Hepatic phosphorylase deficiency'), +('369','Hers disease'), +('369','Liver glycogen phosphorylase deficiency'), +('447','Marchiafava-Micheli disease'), +('447','PNH'), +('166108','Intellectual disability-hypotonia-facial dysmorphism syndrome'), +('166113','Acrokeratosis of Bazex'), +('166113','Acrokeratosis paraneoplastica'), +('166113','Acrokeratosis paraneoplastica of Bazex'), +('487','GALC deficiency'), +('487','Galactocerebrosidase deficiency'), +('487','Galactosylceramidase deficiency'), +('487','Globoid cell leukodystrophy'), +('166260','Capdepont teeth'), +('166260','DGI-2'), +('166260','DI-2'), +('166260','Dentinogenesis imperfecta, Shields type 2'), +('166265','Dentinogenesis imperfecta, Shields type 3'), +('583','ARSB deficiency'), +('583','ASB deficiency'), +('583','Arylsulfatase B deficiency'), +('583','MPS6'), +('583','MPSVI'), +('583','Maroteaux-Lamy disease'), +('583','Mucopolysaccharidosis type VI'), +('583','N-acetylgalactosamine 4-sulfatase deficiency'), +('166272','Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome'), +('166272','Goldblatt chondrodysplasia'), +('166272','Goldblatt syndrome'), +('166272','ODCD'), +('576','I-cell disease'), +('576','Mucolipidosis type II alpha/beta'), +('576','N-acetylglucosamine 1-phosphotransferase deficiency'), +('166277','Suarez-Stickler syndrome'), +('812','Cherry-red spot-myoclonus syndrome'), +('812','Lipomucopolysaccharidosis'), +('812','Normomorphic sialidosis'), +('166286','Comedo nevus of the palm'), +('166286','Porokeratotic eccrine nevus'), +('577','Pseudo-Hurler polydystrophy'), +('771','UC'), +('771','Ulcerative proctitis'), +('771','Ulcerative proctosigmoiditis'), +('166308','BIMSE'), +('796','GM2 gangliosidosis 0 variant'), +('796','Hexosaminidases A and B deficiency'), +('461','RXLI'), +('461','Steroid sulfatase deficiency'), +('461','X-linked ichthyosis'), +('461','XLI'), +('856','GTS'), +('856','Gilles de la Tourette syndrome'), +('856','Tourette disease'), +('166418','Eating epilepsy'), +('166418','Eating seizures'), +('584','Beta-glucuronidase deficiency'), +('584','MPS7'), +('584','MPSVII'), +('584','Mucopolysaccharidosis type VII'), +('584','Sly disease'), +('825','Ankylosing spondylarthritis'), +('825','Bechterew syndrome'), +('881','45,X syndrome'), +('881','45,X/46,XX syndrome'), +('95','FA'), +('95','FRDA'), +('586','CF'), +('586','Mucoviscidosis'), +('262','Severe dystrophinopathy, Duchenne and Becker type'), +('261','EDMD'), +('550','Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes'), +('550','Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes'), +('269','FSH dystrophy'), +('269','FSHD'), +('269','Facioscapulohumeral muscular dystrophy'), +('269','Facioscapulohumeral myopathy'), +('269','Landouzy-Dejerine myopathy'), +('163898','Classic paraneoplastic limbic encephalitis, with or without intracellular antigens'), +('163908','Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies'), +('551','Fukuhara syndrome'), +('551','Myoclonus epilepsy associated with ragged-red fibres'), +('607','NEM'), +('607','NM'), +('607','Nemaline rod myopathy'), +('163746','Neurologic Waardenburg-Shah syndrome'), +('163746','PCWH'), +('163746','WS4 plus'), +('684','Paramyotonia congenita'), +('273','DM1'), +('273','MD1'), +('273','Myotonic dystrophy type 1'), +('273','Steinert disease'), +('163927','LPP'), +('163927','Localized pustular psoriasis'), +('163927','PPP'), +('163927','Palmoplantar pustulosis'), +('163937','MICPCH'), +('163937','X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome'), +('163914','Limbic encephalitis with novel cell membrane antigen antibodies'), +('614','Myotonia congenita'), +('163921','PALE'), +('163966','X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome'), +('163971','X-linked intellectual disability-microcephaly-testicular failure syndrome'), +('163956','X-linked intellectual disability-nail dystrophy-seizures syndrome'), +('163961','X-linked intellectual disability, Kroes type'), +('164726','AML and myelodysplastic syndromes related to radiation'), +('324','Alpha-galactosidase A deficiency'), +('324','Anderson-Fabry disease'), +('324','Angiokeratoma corporis diffusum'), +('324','Diffuse angiokeratoma'), +('324','FD'), +('307','JME'), +('307','Juvenile myoclonus epilepsy'), +('1941','JAE'), +('892','Familial cerebelloretinal angiomatosis'), +('892','Lindau disease'), +('892','VHL'), +('892','Von Hippel-Lindau syndrome'), +('731','AR-PKD'), +('164736','FASPS'), +('138','CHARGE association'), +('138','Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome'), +('138','Hall-Hittner syndrome'), +('558','MFS'), +('803','ALS'), +('803','Charcot disease'), +('803','Lou Gehrig disease'), +('100','Louis-Bar syndrome'), +('733','Colorectal adenomatous polyposis'), +('733','FAP'), +('733','Familial polyposis coli'), +('399','Huntington chorea'), +('165955','Traumatic myiasis'), +('501','EPM2'), +('501','PME type 2'), +('501','Progressive myoclonic epilepsy type 2'), +('501','Progressive myoclonus epilepsy type 2'), +('870','Trisomy 21'), +('512','Arylsulfatase A deficiency'), +('512','MLD'), +('166011','Multiple epiphyseal dysplasia-myopia-deafness syndrome'), +('166011','Multiple epiphyseal dysplasia-myopia-hearing loss syndrome'), +('567','22q11DS'), +('567','CATCH 22'), +('567','Cayler cardiofacial syndrome'), +('567','Conotruncal anomaly face syndrome'), +('567','DiGeorge sequence'), +('567','DiGeorge syndrome'), +('567','Microdeletion 22q11.2'), +('567','Monosomy 22q11'), +('567','Sedlackova syndrome'), +('567','Shprintzen syndrome'), +('567','Takao syndrome'), +('567','Velocardiofacial syndrome'), +('166016','Multiple epiphyseal dysplasia with Robin phenotype'), +('232','Sickle cell disease'), +('165994','PRTH'), +('165994','Selective pituitary resistance to thyroid hormone'), +('536','Disseminated lupus erythematosus'), +('536','SLE'), +('534','Lowe disease'), +('534','Lowe oculo-cerebro-renal dystrophy'), +('534','Lowe oculo-cerebro-renal syndrome'), +('534','Lowe oculocerebrorenal dystrophy'), +('534','Lowe syndrome'), +('534','OCRL'), +('534','Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency'), +('165988','Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form'), +('165991','EIHI'), +('165991','Exercise-induced hyperinsulinemic hypoglycemia'), +('165991','Hyperinsulinism due to SLC16A1 deficiency'), +('165991','Hyperinsulinism due to monocarboxylate transporter 1 deficiency'), +('652','MEN1'), +('652','Wermer syndrome'), +('165985','Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form'), +('908','FRAXA syndrome'), +('908','FXS'), +('908','FraX syndrome'), +('908','Martin-Bell syndrome'), +('3099','Acute rheumatic fever'), +('739','Prader-Labhart-Willi syndrome'), +('47','BTK-deficiency'), +('47','Bruton type agammaglobulinemia'), +('580','Hunter syndrome'), +('580','Iduronate 2-sulfatase deficiency'), +('580','MPS2'), +('580','MPSII'), +('580','Mucopolysaccharidosis type II'), +('579','Alpha-L-iduronidase deficiency'), +('579','MPS1'), +('579','MPSI'), +('579','Mucopolysaccharidosis type I'), +('905','Hepatolenticular degeneration'), +('163209','Brain malformation due to abnormal neuronal migration'), +('792','X-linked juvenile retinoschisis'), +('792','XLRS'), +('383','Conductive deafness with stapes fixation'), +('383','DFNX2'), +('383','Nance deafness'), +('383','X-linked deafness type 2'), +('383','X-linked mixed conductive and neurosensory deafness'), +('383','X-linked mixed conductive and neurosensory hearing loss'), +('383','X-linked mixed conductive and sensorineural deafness'), +('383','X-linked mixed conductive and sensorineural hearing loss'), +('383','X-linked stapes gusher syndrome'), +('827','Fundus flavimaculatus'), +('827','Stargardt 1'), +('906','Eczema-thrombocytopenia-immunodeficiency syndrome'), +('906','WAS'), +('904','Deletion 7q11.23'), +('904','Monosomy 7q11.23'), +('904','Williams-Beuren syndrome'), +('162521','Apertura pyriformis with holoprosencephaly'), +('280','4p- syndrome'), +('280','Distal deletion 4p'), +('280','Distal monosomy 4p'), +('280','Telomeric deletion 4p'), +('162516','Isolated apertura pyriformis stenosis'), +('162516','Isolated nasal pyriform aperture hypoplasia'), +('96','AVED'), +('96','Ataxia with isolated vitamin E deficiency'), +('96','Familial isolated vitamin E deficiency'), +('96','Friedreich-like ataxia'), +('96','Isolated vitamin E deficiency'), +('162526','Congenital auditory ossicle malformation without external ear abnormality'), +('101','DRPLA'), +('101','Dentatorubropallidoluysian atrophy'), +('101','Naito-Oyanagi disease'), +('783','Broad thumb-hallux syndrome'), +('783','Broad thumbs-halluces syndrome'), +('163649','Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome'), +('631','Congenital IGHD'), +('631','Congenital isolated GH deficiency'), +('631','Congenital isolated growth hormone deficiency'), +('276','SCIDX1'), +('276','T-B+ SCID due to gamma chain deficiency'), +('276','T-B+ severe combined immunodeficiency, X-linked'), +('163654','SED-BDS'), +('163654','Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome'), +('163654','Tattoo dysplasia'), +('481','SBMA'), +('481','SMAX1'), +('481','X-linked BSMA'), +('481','X-linked bulbospinal amyotrophy'), +('481','X-linked bulbospinal muscular atrophy'), +('481','X-linked spinal and bulbar muscular atrophy'), +('664','OCT deficiency'), +('664','OTC deficiency'), +('664','Ornithine carbamoyltransferase deficiency'), +('163668','Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome'), +('163668','Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome'), +('163673','Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome'), +('394','Cystathionine beta-synthase deficiency'), +('394','Homocystinuria due to cystathionine beta-synthase deficiency'), +('508','Donohue syndrome'), +('436','HPP'), +('436','Phosphoethanolaminuria'), +('436','Rathbun disease'), +('163596','Alpha-thalassemia hydrops fetalis'), +('163596','Alpha-thalassemia major'), +('163596','Hemoglobin Bart`s hydrops fetalis'), +('163596','Homozygous alpha0-thalassemia'), +('104','LHON'), +('104','Leber optic atrophy'), +('2182','Bickers-Adams syndrome'), +('2182','HSAS'), +('2182','X-linked HSAS'), +('2182','X-linked acqueductal stenosis'), +('2182','X-linked hydrocephalus'), +('2182','X-linked hydrocephalus with stenosis of aqueduct of Sylvius'), +('163717','Benign FMTLE'), +('163708','Late-onset infantile spasms'), +('636','NF1'), +('636','Von Recklinghausen disease'), +('163703','AERRPS'), +('163703','Acute encephalitis with refractory repetitive partial seizures'), +('163703','Acute non-herpetic encephalitis with severe refractory status epilepticus'), +('163703','DESC syndrome'), +('163703','Devastating epileptic encephalopathy in school-aged children'), +('163703','FIRES'), +('163703','Fever-induced refractory epileptic encephalopathy in school-aged children'), +('163703','Idiopathic catastrophic epileptic encephalopathy'), +('163703','Severe refractory status epilepticus owing to presumed encephalitis'), +('649','Atrophia bulborum hereditaria'), +('649','Episkopi blindness'), +('649','Norrie-Warburg disease'), +('163727','Rolandic epilepsy exercise-induced dystonia'), +('163681','CDFE syndrome'), +('163681','CDFES'), +('379','CGD'), +('379','Chronic septic granulomatosis'), +('16','Atypical X-linked achromatopsia'), +('16','Blue cone monochromacy'), +('16','Color blindness, blue monocone monochromatic type'), +('16','S cone monochromacy'), +('16','S cone monochromatism'), +('16','X-linked incomplete achromatopsia'), +('163699','ASPS'), +('163699','Alveolar soft part sarcoma'), +('644','Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome'), +('644','Neuropathy-ataxia-retinitis pigmentosa syndrome'), +('637','NF2'), +('163696','AMRF'), +('163696','EPM4'), +('163696','Myoclonus-nephropathy syndrome'), +('163696','Progressive myoclonic epilepsy type 4'), +('163696','Progressive myoclonus epilepsy type 4'), +('181','Christ-Siemens-Touraine syndrome'), +('181','X-linked anhidrotic ectodermal dysplasia'), +('181','XHED'), +('163693','2p21 deletion syndrome'), +('163693','Del(2)(p21)'), +('163693','Monosomy 2p21'), +('163690','HCS'), +('337','FOP'), +('337','Myositis ossificans progressiva'), +('337','Stone man syndrome'), +('3444','Pulmonic stenosis with `café-au-lait` spots'), +('377','Basal cell nevus syndrome'), +('377','Gorlin-Goltz syndrome'), +('377','NBCCS'), +('377','Nevoid basal cell carcinoma syndrome'), +('281','Cri du chat syndrome'), +('281','Deletion 5p'), +('752','17-beta-hydroxysteroid dehydrogenase 3 deficiency'), +('752','17-ketoreductase deficiency'), +('752','17-ketosteroidreductase deficiency'), +('214','Cystinuria-lysinuria syndrome'), +('510','HPRT complete deficiency'), +('510','HPRT deficiency grade IV'), +('510','Hypoxanthine guanine phosphoribosyltransferase complete deficiency'), +('510','Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV'), +('640','Current pressure-sensitive neuropathy'), +('640','HNPP'), +('640','Heterozygous microdeletion 17p11.2p12'), +('640','Potato-grubbing palsy'), +('640','Tomaculous neuropathy'), +('640','Tulip-bulb digger`s palsy'), +('895','WS2'), +('895','Waardenburg syndrome type II'), +('896','Klein-Waardenburg syndrome'), +('896','WS3'), +('896','Waardenburg syndrome type III'), +('896','Waardenburg syndrome with limb anomalies'), +('857','Imperforate anus-hand, foot and ear anomalies syndrome'), +('857','REAR syndrome'), +('857','Renal-ear-anal-radial syndrome'), +('857','Sensorineural deafness with imperforate anus and hypoplastic thumbs'), +('857','Sensorineural hearing loss with imperforate anus and hypoplastic thumbs'), +('857','TBS'), +('857','Townes syndrome'), +('894','WS1'), +('894','Waardenburg syndrome type I'), +('682','Adynamia episodica hereditaria'), +('682','Familial hyperPP'), +('682','Familial hyperkalemic periodic paralysis'), +('682','Gamstorp disease'), +('682','Gamstorp episodic adynamy'), +('682','HYPP'), +('682','HyperKPP'), +('682','HyperPP'), +('682','Hyperkalemic PP'), +('682','Primary hyperPP'), +('682','Primary hyperkalemic periodic paralysis'), +('800','Aberfeld syndrome'), +('800','Burton skeletal dysplasia'), +('800','Burton syndrome'), +('800','Catel-Hempel syndrome'), +('800','Dysostosis enchondralis metaepiphysaria, Catel-Hempel type'), +('800','Myotonic chondrodystrophy'), +('800','Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies'), +('800','Osteochondromuscular dystrophy'), +('800','SJS'), +('800','SJS1'), +('800','Schwartz-Jampel syndrome type 1'), +('800','Schwartz-Jampel-Aberfeld syndrome'), +('706','PAD'), +('706','Patent ductus arteriosus'), +('706','Persistent patency of the arterial duct'), +('628','Diastrophic dysplasia'), +('681','Westphall disease'), +('126','BPES'), +('107','Branchiootorenal syndrome'), +('774','HHT'), +('774','Rendu-Osler disease'), +('774','Rendu-Osler-Weber disease'), +('794','ACS3'), +('794','Acrocephalosyndactyly type 3'), +('794','SCS'), +('710','ACS5'), +('710','Acrocephalosyndactyly type 5'), +('2869','Hamartomatous intestinal polyposis'), +('2869','PJS'), +('2869','Polyps and spots syndrome'), +('893','Del(11)(p13)'), +('893','Deletion 11p13'), +('893','Monosomy 11p13'), +('893','Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome'), +('912','Cerebrohepatorenal syndrome'), +('912','ZS'), +('50','Agenesis of corpus callosum with chorioretinal abnormality'), +('53','Osteopetrosis autosomal dominant type 2'), +('14','Bassen-Kornzweig disease'), +('14','Homozygous familial hypobetalipoproteinemia'), +('52','Alagille-Watson syndrome'), +('52','Arteriohepatic dysplasia'), +('52','Syndromic bile duct paucity'), +('167','Chédiak-Higashi disease'), +('167','Chédiak-Higashi-Steinbrink syndrome'), +('195','CES'), +('207','Crouzon craniofacial dysostosis'), +('205','Bilirubin uridinediphosphate glucuronosyltransferase deficiency'), +('205','Bilirubin-UGT deficiency'), +('205','Hereditary unconjugated hyperbilirubinemia'), +('205','UGT deficiency'), +('160148','Cap inflammatory polyposis'), +('160148','Eroded polypoid hyperplasia'), +('160148','Inflammatory myoglandular polyps'), +('160148','Polypoid prolapsing folds'), +('201','Cowden disease'), +('201','Multiple hamartoma syndrome'), +('192','CLS'), +('2442','Duncan disease'), +('2442','Purtilo syndrome'), +('2442','XLP'), +('169808','Mild factor VIII deficiency'), +('169802','Severe factor VIII deficiency'), +('169805','Moderately severe factor VIII deficiency'), +('562','Gonadotropin-independent female-limited sexual precocity'), +('565','Kinky hair disease'), +('565','Kinky hair syndrome'), +('565','MD'), +('565','MK'), +('565','MNK'), +('565','Menkes syndrome'), +('565','Steely hair disease'), +('565','Steely hair syndrome'), +('565','Trichopoliodystrophy'), +('565','X-linked copper deficiency'), +('2443','Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies'), +('2443','OXPHOS disease due to nDNA anomalies'), +('2443','OXPHOS disease due to nuclear DNA anomalies'), +('555','Celiac sprue'), +('555','Coeliac disease'), +('555','Coeliac sprue'), +('555','Gluten intolerance'), +('555','Gluten-induced enteropathy'), +('555','Gluten-sensitive enteropathy'), +('555','Idiopathic steatorrhea'), +('555','Nontropical sprue'), +('474','Asphyxiating thoracic dystrophy of the newborn'), +('474','JATD'), +('474','Jeune asphyxiating thoracic dystrophy'), +('540','Familial HLH'), +('568','Lenz microphthalmia'), +('564','Meckel-Gruber syndrome'), +('289','Chondroectodermal dysplasia'), +('289','Mesodermic dysplasia'), +('258','CMD1A'), +('258','Congenital muscular dystrophy due to laminin alpha2 deficiency'), +('258','Congenital muscular dystrophy type 1A'), +('258','MDC1A'), +('258','Merosin-negative congenital muscular dystrophy'), +('1247','Bilharziasis'), +('112','Renal tubular normotensive hypokalemic alkalosis with hypercalciuria'), +('112','Salt-losing tubular disorder, Henle`s loop type'), +('112','Salt-wasting tubulopathy, Henle`s loop type'), +('169446','AR-HIES'), +('169446','Autosomal recessive HIES'), +('169446','Hyperimmunoglobulin E syndrome type 2'), +('169446','Non-skeletal hyper-IgE syndrome'), +('1646','Male sterility due to chromosome Y deletion'), +('99','ADCA'), +('99','Autosomal dominant spinocerebellar ataxia'), +('116','BWS'), +('116','Exomphalos-macroglossia-gigantism syndrome'), +('116','Wiedemann-Beckwith syndrome'), +('87','ACS1'), +('87','Acrocephalosyndactyly type 1'), +('97','Episodic ataxia type 2'), +('313','Classic lamellar ichthyosis'), +('313','Congenital lamellar ichthyosis'), +('313','LI'), +('169799','Mild factor IX deficiency'), +('169796','Moderately severe factor IX deficiency'), +('169793','Severe factor IX deficiency'), +('406','HeFH'), +('1000','Ocular albinism with late-onset sensorineural hearing loss'), +('999','O`Doherty syndrome'), +('999','Pigmentary disorder with deafness'), +('999','Pigmentary disorder with hearing loss'), +('171439','Mild nemaline myopathy'), +('55','OCA'), +('171607','SPG34'), +('2771','Osteogenesis imperfecta-congenital joint contractures syndrome'), +('171612','SPG37'), +('171617','SPG38'), +('1349','Maternally-inherited cardiomyopathy and deafness'), +('1349','mtDNA-related cardiomyopathy and deafness'), +('1349','mtDNA-related cardiomyopathy and hearing loss'), +('1349','tRNA-LYS-related cardiomyopathy-hearing loss syndrome'), +('171622','SPG32'), +('171629','SPG35'), +('357','Familial cholemia'), +('357','Hyperbilirubinemia type 1'), +('861','Franceschetti-Klein syndrome'), +('861','Mandibulofacial dysostosis without limb anomalies'), +('308','PME type 1'), +('308','Progressive myoclonic epilepsy type 1'), +('308','Progressive myoclonus epilepsy type 1'), +('308','ULD'), +('1991','Tessier cleft number 1,2'), +('199','Brachmann-de Lange syndrome'), +('2162','HPE'), +('930','Achalasia cardia'), +('930','Idiopathic achalasia of esophagus'), +('930','Primary achalasia'), +('998','Albinism-hearing loss syndrome'), +('1727','Dup(22)(q11)'), +('1727','Duplication 22q11.2'), +('1727','Trisomy 22q11.2'), +('169079','Cernunnos XLFD'), +('169079','Cernunnos deficiency'), +('169079','Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome'), +('169079','NHEJ1 deficiency'), +('1716','Distal duplication 18q'), +('1716','Telomeric duplication 18q'), +('1716','Trisomy 18qter'), +('1715','Duplication 18p'), +('1715','Duplication of the short arm of chromosome 18'), +('1715','Trisomy of the short arm of chromosome 18'), +('3380','Chromosome 18 duplication'), +('3380','Edwards syndrome'), +('1707','Distal duplication 15q'), +('1707','Telomeric duplication 15q'), +('1707','Trisomy 15qter'), +('3378','Patau syndrome'), +('168972','Intellectual disability, Kahrizi type'), +('168972','Intellectual disability-cataract-coloboma-kyphosis syndrome'), +('169100','Interleukin-2 receptor alpha chain deficiency'), +('169105','Thymoma-immunodeficiency syndrome'), +('169090','Immune dysfunction due to T-cell inactivation due to calcium entry defect'), +('236','Duplication 9p'), +('236','Duplication of the short arm of chromosome 9'), +('236','Trisomy of the short arm of chromosome 9'), +('169095','Alymphoid cystic thymic dysgenesis'), +('169095','Nude/SCID'), +('169095','Nude/severe combined immunodeficiency'), +('169095','SCID due to FOXN1 deficiency'), +('169095','Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome'), +('169095','Winged helix deficiency'), +('169085','Familial CD8 deficiency'), +('168829','EOPPC'), +('168829','Extra-ovarian primary peritoneal carcinoma'), +('168829','PPC'), +('168829','Primary peritoneal serous carcinoma'), +('168829','Serous surface papillary carcinoma'), +('168816','Benign multicystic peritoneal mesothelioma'), +('168816','Multicystic mesothelioma'), +('168816','Multilocular peritoneal inclusion cyst'), +('753','46,XY DSD due to 5-alpha-reductase 2 deficiency'), +('753','Pseudovaginal perineoscrotal hypospadias'), +('753','Steroid 5-alpha-reductase deficiency'), +('168811','Diffuse malignant peritoneal mesothelioma'), +('168811','Primary malignant peritoneal mesothelioma'), +('218','Darier-White disease'), +('218','Keratosis follicularis'), +('168796','Atriodigital dysplasia, Slovenian type'), +('168796','Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome'), +('1465','CSS'), +('168782','Dementia infantilis'), +('168782','Heller syndrome'), +('1642','Distal deletion 9p'), +('1642','Monosomy 9pter'), +('1642','Telomeric deletion 9p'), +('168966','Composite Hodgkin and non-Hodgkin lymphoma'), +('168960','RAEB-t'), +('8','Double Y syndrome'), +('8','XYY syndrome'), +('8','Y disomy'), +('1636','Distal deletion 7q36'), +('1636','Monosomy 7qter'), +('1636','Telomeric deletion 7q36'), +('168956','HES'), +('168953','8p11 myeloproliferative syndrome'), +('168953','Stem cell leukemia/lymphoma'), +('1600','18q deletion syndrome'), +('1600','18q- syndrome'), +('1600','Deletion 18q'), +('1598','18p- syndrome'), +('1598','De Grouchy syndrome'), +('2773','Al Gazali-Nair syndrome'), +('2609','Isolated NADH-CoQ reductase deficiency'), +('2609','Isolated NADH-coenzyme Q reductase deficiency'), +('2609','Isolated NADH-ubiquinone reductase deficiency'), +('2609','Isolated mitochondrial respiratory chain complex I deficiency'), +('626','Congenital pigmented nevus'), +('626','GMN'), +('626','Giant congenital melanocytic nevus'), +('626','Giant pigmented hairy nevus'), +('626','LCMN'), +('773','Adult Refsum disease'), +('773','Classic Refsum disease'), +('773','HMSN 4'), +('773','HMSN IV'), +('773','Hereditary motor and sensory neuropathy type 4'), +('773','Hereditary motor and sensory neuropathy type IV'), +('773','Heredopathia atactica polyneuritiformis'), +('773','Phytanic-CoA hydroxylase deficiency'), +('11','49,XXXXX syndrome'), +('11','Penta-X'), +('11','Poly-X'), +('169154','T-B+ SCID due to IL-7Ralpha deficiency'), +('370','GSD due to phosphorylase kinase deficiency'), +('370','GSD type 9'), +('370','GSD type IX'), +('370','Glycogen storage disease due to PhK deficiency'), +('370','Glycogen storage disease type 9'), +('370','Glycogen storage disease type IX'), +('370','Glycogenosis due to phosphorylase kinase deficiency'), +('370','Glycogenosis type 9'), +('370','Glycogenosis type IX'), +('370','Gycogenosis due to PhK deficiency'), +('169150','Immunodeficiency due to C5 to C9 component complement deficiency'), +('169150','Terminal complement pathway deficiency'), +('169160','T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta'), +('385','NBIA'), +('169157','T-B+ SCID due to CD45 deficiency'), +('1947','CLN8 disease, Northern epilepsy variant'), +('1947','NCL, Northern epilepsy variant'), +('1947','Neuronal ceroid lipofuscinosis, Northern epilepsy variant'), +('1947','Northern epilepsy'), +('169147','Immunodeficiency due to C1, C4, or C2 component complement deficiency'), +('169147','Immunodeficiency due to an early component of complement deficiency'), +('169142','Neutrophil-specific granule deficiency'), +('596','X-linked myotubular myopathy'), +('596','XLCNM'), +('596','XLMTM'), +('610','Benign autosomal dominant myopathy'), +('169186','AR-CNM'), +('464','Bloch-Siemens syndrome'), +('464','Bloch-Sulzberger syndrome'), +('3307','Isochromosome 18p'), +('484','47,XXY syndrome'), +('169189','AD-CNM'), +('3084','Pigmentary retinopathy-intellectual disability syndrome'), +('44','NALD'), +('56','Hereditary ochronosis'), +('56','Homogentisic acid oxidase deficiency'), +('1059','BRBN'), +('1059','Bean syndrome'), +('1006','Ipp-Gelfand syndrome'), +('1046','Water-West syndrome'), +('22','4-hydroxybutyric aciduria'), +('22','Gamma-hydroxybutyric aciduria'), +('22','SSADH deficiency'), +('29','Complete mevalonate kinase deficiency'), +('29','MVA'), +('245','Mandibulofacial dysostosis with preaxial limb anomalies'), +('245','NAFD'), +('245','Nager acrofacial dysostosis'), +('245','Preaxial acrodysostosis'), +('30','Orotidylic decarboxylase deficiency'), +('30','Uridine monophosphate synthetase deficiency'), +('36','ACS'), +('915','Aarskog syndrome'), +('915','Faciodigitogenital syndrome'), +('915','Faciogenital dysplasia'), +('2614','Onychoosteodysplasia'), +('2614','Turner-Kieser syndrome'), +('33','Isovaleric acid CoA dehydrogenase deficiency'), +('819','17p11.2 microdeletion syndrome'), +('3085','Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome'), +('3085','Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome'), +('9','48,XXXX syndrome'), +('9','Quadruple X'), +('9','Tetra X'), +('1442','Ring 18'), +('1442','Ring chromosome 18'), +('168621','Dysplasia epiphysealis capitis femoris'), +('168621','Meyer dysplasia'), +('1452','Cleidocranial dysostosis'), +('168624','Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome'), +('168778','Rare ASD'), +('168778','Rare PDD'), +('168778','Rare autism spectrum disorder'), +('1488','Aural atresia-multiple congenital anomalies-intellectual disability syndrome'), +('1334','CMC'), +('1369','Sengers syndrome'), +('168577','CHC type 2'), +('168577','Hereditary cryohydrocytosis type 2'), +('168577','Stomatin-deficient cryohydrocytosis'), +('168577','sdCHC'), +('168593','SIDDT'), +('168588','11-beta-hydroxysteroid dehydrogenase deficiency type 1'), +('168601','Congenital enterokinase deficiency'), +('1414','Aagenaes syndrome'), +('168598','MAT I/III deficiency'), +('168598','MAT deficiency'), +('168598','Methionine adenosyltransferase deficiency'), +('1417','Akaba-Hayasaka syndrome'), +('168609','Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure'), +('168609','Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure'), +('168609','Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure'), +('168609','Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure'), +('168609','Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure'), +('168609','Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure'), +('168609','Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure'), +('1154','Distal arthrogryposis type 5'), +('1154','Distal arthrogryposis type IIB'), +('1154','Distal arthrogryposis with ophthalmoplegia'), +('1154','Oculomelic amyoplasia'), +('168558','XY sex reversal-adrenal failure'), +('124','Aase syndrome'), +('124','Aase-Smith II syndrome'), +('124','Congenital PRCA'), +('124','Congenital hypoplastic anemia, Blackfan-Diamond type'), +('124','Congenital pure red cell aplasia'), +('124','Diamond-Blackfan anemia'), +('168566','Fatal mitochondrial disease due to COXPD3'), +('1310','Infantile cortical hyperostosis'), +('168572','Congenital myopathy-cleft palate-malignant hyperthermia syndrome'), +('125','BSyn'), +('90','Arginase deficiency'), +('90','Hyperargininemia'), +('1065','Gillespie syndrome'), +('168454','SEMD, Geneviève type'), +('168454','SEMDG'), +('1146','DA1'), +('1146','DA1A'), +('1146','Distal arthrogryposis type 1'), +('168486','Congenital NCL'), +('168491','Jansky-Bielschowsky disease'), +('168491','LINCL'), +('168491','Late infantile NCL'), +('168544','X-linked spondylometaphyseal dysplasia'), +('1147','Distal arthrogryposis type 2B'), +('1147','Freeman-Sheldon syndrome variant'), +('246','Acrofacial dysostosis, Genee-Wiedmann type'), +('246','Mandibulfacial dysostosis with postaxial limb anomalies'), +('246','Miller syndrome'), +('246','POADS'), +('246','Postaxial acrodysostosis'), +('1775','DC'), +('1775','DKC'), +('1775','Zinsser-Engman-Cole syndrome'), +('1764','HSAN3'), +('1764','Hereditary sensory and autonomic neuropathy type 3'), +('1764','Hereditary sensory and autonomic neuropathy type III'), +('1764','Riley-Day syndrome'), +('1672','Diencephalic cachexia'), +('1672','Diencephalic syndrome of childhood'), +('1672','Diencephalic syndrome of emaciation'), +('1672','Russell diencephalic cachexia'), +('1672','Russell syndrome'), +('167714','Unclassified AML'), +('167635','Arndt-Gottron disease'), +('167635','Generalized lichenoid papular eruption'), +('167635','Generalized papular and sclerodermoid lichen myxedematosus'), +('765','PDH'), +('765','PDHC'), +('765','Pyruvate dehydrogenase complex deficiency'), +('395','MTHFR deficiency'), +('395','Methylene tetrahydrofolate reductase deficiency'), +('408','Hyperglycerolemia'), +('148','MCD'), +('147','CPS1 deficiency'), +('147','CPS1D'), +('147','Carbamoyl-phosphate synthetase I deficiency'), +('147','Carbamoyl-phosphate synthetase deficiency'), +('23','ASA deficiency'), +('23','ASL deficiency'), +('23','Argininosuccinase deficiency'), +('23','Argininosuccinatelyase deficiency'), +('23','Argininosuccinic acid lyase deficiency'), +('45','AMP deaminase deficiency'), +('45','Myoadenylate deaminase deficiency'), +('166775','Rare bleeding disorder due to an acquired coagulation factor defect'), +('166775','Rare coagulopathy due to an acquired coagulation factor defect'), +('226','Hyperphenylalaninemia due to dihydropteridine reductase deficiency'), +('226','PKU type 2'), +('226','Phenylketonuria type 2'), +('1556','CMTC'), +('1538','Braddock-Jones-Superneau syndrome'), +('1496','Andermann syndrome'), +('1496','Charlevoix disease'), +('417','NSHPT'), +('2233','Cantalamessa-Baldini-Ambrosi syndrome'), +('2248','HLHS'), +('2135','Mastocytosis-short stature-deafness syndrome'), +('2135','Mastocytosis-short stature-hearing loss syndrome'), +('2140','CDH'), +('2113','CHHS'), +('2116','Aminoaciduria, Hartnup type'), +('2116','Hartnup disorder'), +('2118','4-HPPD deficiency'), +('2118','4-alpha-hydroxyphenylpyruvate hydroxylase deficiency'), +('2118','4-hydroxyphenylpyruvic acid dioxygenase deficiency'), +('351','Goldberg syndrome'), +('351','Neuraminidase deficiency with beta-galactosidase deficiency'), +('374','Facioauriculovertebral sequence'), +('2020','CFTDM'), +('2005','Novak syndrome'), +('2053','Craniocarpotarsal dysplasia'), +('2053','Craniocarpotarsal dystrophy'), +('2053','Distal arthrogryposis type 2A'), +('2053','Whistling face syndrome'), +('1931','Anterior encephalocele'), +('295','Mother-to-child transmission of parvovirus syndrome'), +('295','Parvovirus antenatal infection'), +('1933','Booth-Haworth-Dilling syndrome'), +('1933','Mitochondrial encephalomyopathy-aminoacidopathy syndrome'), +('1933','mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria'), +('1880','Ebstein anomaly of the tricuspid valve'), +('255','HPD with diurnal fluctuation'), +('255','Hereditary progressive dystonia with diurnal fluctuation'), +('1915','ARBD'), +('1915','ARND'), +('1915','Alcohol-related birth defects'), +('1915','Alcohol-related neurodevelopmental disorder'), +('1915','FAS'), +('1915','FASD'), +('1915','Fetal alcohol spectrum disorders'), +('1885','Ectopia lentis syndrome'), +('1885','Familial ectopia lentis'), +('1851','MCDK'), +('1851','Multicystic renal dysplasia'), +('2612','Nevus sebaceus of Jadassohn'), +('2612','Nevus sebaceus syndrome'), +('2612','Organoid nevus syndrome'), +('2612','Schimmelpenning syndrome'), +('2612','Solomon syndrome'), +('2635','Metatropic dwarfism'), +('2655','TD'), +('606','Myotonic dystrophy type 2'), +('606','Proximal myotonic dystrophy'), +('606','Ricker disease'), +('606','Ricker syndrome'), +('705','Goiter-deafness syndrome'), +('705','Goiter-hearing loss syndrome'), +('2870','Induratio penis plastica'), +('2870','Plastic induration of penis'), +('2801','Familial osteoectasia'), +('2801','Hereditary hyperphosphatasia'), +('2801','Hyperostosis corticalis deformans juvenilis'), +('2801','JPG'), +('884','Isochromosome 12p mosaicism'), +('884','Isochromosome 12p syndrome'), +('884','Pallister-Killian syndrome'), +('2785','Carbonic anhydrase 2 deficiency'), +('2785','Guibaud-Vainsel syndrome'), +('2785','Marble brain disease'), +('2785','Mixed RTA'), +('2785','Mixed renal tubular acidosis'), +('2785','Renal tubular acidosis type 3'), +('2744','HGPPS'), +('2744','Progressive external ophthalmoplegia and scoliosis'), +('2971','Pseudo-NALD'), +('2971','Pseudo-neonatal adrenoleukodystrophy'), +('2971','Pseudoadrenoleukodystrophy'), +('2970','Abdominal muscle deficiency syndrome'), +('2970','Eagle-Barret syndrome'), +('2970','Obrinsky syndrome'), +('2970','Triad syndrome'), +('744','Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome'), +('2901','Acute brachial plexus neuritis'), +('2901','Brachial plexus neuritis'), +('2901','Immune brachial plexus neuropathy'), +('2901','Mononeuritis multiplex with brachial predilection'), +('2901','Neuralgic shoulder amyotrophy'), +('718','Isolated Pierre Robin sequence'), +('180824','Rare pancreatic tumor'), +('181387','Rare disorder with secondary hypogonadism'), +('290','CRS'), +('290','Fetal rubella syndrome'), +('290','Mother-to-child transmission of rubella syndrome'), +('3071','FCS syndrome'), +('3071','Faciocutaneoskeletal syndrome'), +('181371','Rare insulin-dependent diabetes mellitus'), +('763','Pyknodysostosis'), +('181376','Rare insulin-independent diabetes mellitus'), +('2983','Verloes-Gillerot-Fryns syndrome'), +('2982','46,XX DSD'), +('2981','Thiolase deficiency'), +('469','Hereditary fructose-1-phosphate aldolase deficiency'), +('469','Hereditary fructosemia'), +('2308','Del(11)(q23.3)'), +('2308','Del(11)(qter)'), +('2308','Distal deletion 11q'), +('2308','Distal monosomy 11q'), +('2308','Monosomy 11qter'), +('2308','Telomeric deletion 11q'), +('2318','Arima syndrome'), +('2318','CORS'), +('2318','Cerebellooculorenal syndrome'), +('2318','Dekaban-Arima syndrome'), +('2318','JS type B'), +('2318','JS-OR'), +('2318','Joubert syndrome with Senior-Loken syndrome'), +('2253','O`Donnell-Pappas syndrome'), +('180188','Isolated congenital amastia'), +('180182','Accessory breasts'), +('180182','Polymastia'), +('2300','Familial intestinal polyatresia syndrome'), +('502','Deletion 8q24.1'), +('502','Langer-Giedion syndrome'), +('502','Monosomy 8q24.1'), +('477','Ichthyosis hystrix Rheydt type'), +('477','KID/HID syndrome'), +('477','Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome'), +('477','Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome'), +('477','Senter syndrome'), +('2346','Klippel-Trénaunay-Weber syndrome'), +('180247','Vaginal malignant epithelial tumor'), +('506','Infantile subacute necrotizing encephalopathy'), +('506','Leigh disease'), +('2414','Pulmonary lymphangiomatosis'), +('180242','Cancer of fallopian tubes'), +('180242','Malignant tubal tumor'), +('180242','Tubal cancer'), +('2466','Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome'), +('180275','Mammary Paget disease'), +('180275','Paget disease of the breast'), +('180275','Paget`s disease of the nipple'), +('587','Multiple keratoacanthoma, Muir-Torre type'), +('570','Congenital facial diplegia'), +('570','Möbius syndrome'), +('180257','Rare breast cancer'), +('180261','Cystosarcoma phyllodes of the breast'), +('2444','CCAM'), +('2444','CPAM'), +('2444','Congenital cystic adenomatoid malformation of the lung'), +('2444','Congenital cystic adenomatous malformation of the lung'), +('2444','Congenital cystic disease of the lung'), +('612','K+-aggravated myotonia'), +('612','K-aggravated myotonia'), +('612','PAM'), +('716','PAH deficiency'), +('716','PKU'), +('716','Phenylalanine hydroxylase deficiency'), +('180071','Unicornuate uterus'), +('180068','Incomplete bilateral aplasia of the Müllerian ducts'), +('287','Classical EDS'), +('287','cEDS'), +('180086','Bicervical bicornuate uterus'), +('180079','Incomplete unilateral Müllerian aplasia'), +('180079','Incomplete unilateral aplasia of the Müllerian ducts'), +('180079','Unicornuate uterus with rudimentary horn'), +('180074','Complete unilateral Müllerian aplasia'), +('180074','Complete unilateral aplasia of the Müllerian ducts'), +('180074','Unicornuate uterus without rudimentary horn'), +('180118','Uterus arcuatus'), +('180118','Uterus cordiformis'), +('180126','Total septate uterus'), +('180129','Subtotal septate uterus'), +('180129','Uterus subseptus'), +('1020','EOFAD'), +('1020','Early-onset familial autosomal dominant Alzheimer disease'), +('1020','Familial Alzheimer disease'), +('63','Alport deafness-nephropathy'), +('63','Alport hearing loss-nephropathy'), +('54','OA1'), +('54','Ocular albinism type 1'), +('54','Ocular albinism, Nettleship-Falls type'), +('54','XLOA'), +('154','Familial or idiopathic dilated cardiomyopathy'), +('84','Fanconi pancytopenia'), +('70','SMA'), +('180176','Familial juvenile gigantomastia'), +('180176','Virginal breast hypertrophy'), +('166','CMT/HMSN'), +('166','Charcot-Marie-Tooth hereditary neuropathy'), +('155','Familial isolated hypertrophic obstructive cardiomyopathy'), +('155','Familial isolated hypertrophic subaortic stenosis'), +('155','Familial or idiopathic hypertrophic subaortic stenosis'), +('155','Familila or idiopathic hypertrophic obstructive cardiomyopathy'), +('155','Hypertrophic obstructive cardiomyopathy'), +('155','Primitive hypertrophic obstructive cardiomyopathy'), +('155','Primitive hypertrophic subaortic stenosis'), +('3135','Familial Scheuermann juvenile kyphosis'), +('3135','Familial spinal osteochondrosis'), +('813','Silver-Russell dwarfism'), +('816','Fatty acid alcohol oxidoreductase deficiency'), +('821','Cerebral gigantism'), +('3173','Tsao-Ellingson syndrome'), +('3204','Stormorken syndrome'), +('3204','Thrombocytopathy-asplenia-miosis syndrome'), +('3205','Encephalofacial angiomatosis'), +('3205','Encephalotrigeminal angiomatosis'), +('3205','SWS'), +('3205','Sturge-Weber-Dimitri syndrome'), +('3205','Sturge-Weber-Krabbe angiomatosis'), +('3205','Sturge-Weber-Krabbe syndrome'), +('3320','TAR syndrome'), +('178996','Immunologic neutropenia'), +('858','Mother-to-child transmission of toxoplasmosis'), +('858','Toxoplasma embryofetopathy'), +('858','Toxoplasma embryopathy'), +('1245','Amish brittle hair syndrome'), +('1245','Trichothiodystrophy type D'), +('887','VACTERL association'), +('887','VATER association'), +('291','Antenatal varicella virus infection'), +('291','Mother-to-child transmission of varicella syndrome'), +('909','CTX'), +('909','Sterol 27-hydroxylase deficiency'), +('3447','Camptodactyly-overgrowth-unusual facies syndrome'), +('1422','Nivelon-Nivelon-Mabille syndrome'), +('178478','Infant intestinal botulism'), +('178478','Infant intestinal toxemia botulism'), +('178478','Infant intestinal toxin-mediated botulism'), +('178478','Infantile botulism'), +('178481','Intestinal colonization botulism'), +('178481','Intestinal toxemia botulism'), +('178481','Intestinal toxin-mediated botulism'), +('178475','Cutaneous infectious botulism'), +('178475','Cutaneous toxin-mediated botulism'), +('178475','Inoculation botulism'), +('178475','Skin infectious botulism'), +('178475','Skin toxin-mediated botulism'), +('178461','XMPMA'), +('178464','Edström Myopathy'), +('178464','HIBM-ERF'), +('178464','HMERF'), +('178464','Hereditary inclusion body myopathy with early respiratory failure'), +('178464','MFM-titinopathy'), +('178464','Myofibrillar myopathy with early respiratory failure'), +('178464','Myofibrillar myopathy-titinopathy'), +('178400','Distal anterior compartment myopathy'), +('178382','Congenital convex foot'), +('178382','Congenital convex pes valgus'), +('178382','Congenital rocker-bottom foot'), +('178389','Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia'), +('178389','Autosomal recessive osteopetrosis type 7'), +('62','Alpha-sarcoglycan-related LGMD R3'), +('62','Alpha-sarcoglycanopathy'), +('62','Autosomal recessive limb-girdle muscular dystrophy type 2D'), +('62','LGMD due to alpha-sarcoglycan deficiency'), +('62','LGMD type 2D'), +('62','LGMD2D'), +('62','Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency'), +('62','Limb-girdle muscular dystrophy type 2D'), +('178364','MCOPS5'), +('178364','Syndromic microphthalmia/anophthalmia due to OTX2 mutation'), +('715','GSD due to muscle phosphorylase kinase deficiency'), +('715','GSD type 9D'), +('715','GSD type 9E'), +('715','GSD type IXd'), +('715','GSD type IXe'), +('715','Glycogen storage disease type 9D'), +('715','Glycogen storage disease type 9E'), +('715','Glycogen storage disease type IXd'), +('715','Glycogen storage disease type IXe'), +('715','Glycogenosis due to muscle phosphorylase kinase deficiency'), +('715','Glycogenosis type 9D'), +('715','Glycogenosis type 9E'), +('715','Glycogenosis type IXd'), +('715','Glycogenosis type IXe'), +('348','FBPase deficiency'), +('348','Fructose-1,6-diphosphatase deficiency'), +('178345','AEXS'), +('178345','Familial hyperestrogenism'), +('178345','Hereditary prepubertal gynecomastia'), +('3137','NAGA deficiency'), +('3137','Schindler disease'), +('178544','PCDLBCL,LT'), +('178540','PCFCL'), +('178536','PCMZL'), +('221','Adult dermatomyositis'), +('598','MmD'), +('598','Multiminicore disease'), +('178528','Berti lymphoma'), +('178528','Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma'), +('204','Sporadic CJD'), +('178517','Pagetoid reticulosis, Woringer-Kolopp type'), +('178512','Mycosis fungoides-associated follicular mucinosis'), +('178509','Parkinsonism with alveolar hypoventilation and mental depression'), +('178503','Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome'), +('611','IBM'), +('611','Sporadic inclusion body myositis'), +('611','sIBM'), +('178493','Myopic maculopathy'), +('178487','Adult intestinal colonization botulism'), +('178487','Adult intestinal toxemia botulism'), +('178487','Adult intestinal toxin-mediated botulism'), +('178487','Infant-like botulism'), +('581','MPS3'), +('581','MPSIII'), +('581','Mucopolysaccharidosis type III'), +('581','Sanfilippo disease'), +('685','Familial spastic paraplegia'), +('685','HSP'), +('685','Hereditary spastic paraparesis'), +('685','SPG'), +('685','Strümpell-Lorrain disease'), +('666','Brittle bone disease'), +('666','Glass bone disease'), +('666','Lobstein disease'), +('666','OI'), +('666','Osteopsathyrosis'), +('666','Porak and Durante disease'), +('178029','CDI'), +('178029','Neurogenic diabetes insipidus'), +('423','Hyperthermia of anesthesia'), +('418','CAH'), +('216','NCL'), +('364','G6P deficiency'), +('364','GSD due to G6P deficiency'), +('364','GSD type 1'), +('364','GSD type I'), +('364','Glycogen storage disease due to G6P deficiency'), +('364','Glycogen storage disease type 1'), +('364','Glycogen storage disease type I'), +('364','Glycogenosis type 1'), +('364','Glycogenosis type I'), +('364','Hepatorenal glycogenosis'), +('364','Von Gierke disease'), +('355','Acid beta-glucosidase deficiency'), +('355','Glucocerebrosidase deficiency'), +('388','Aganglionic megacolon'), +('388','Congenital intestinal aganglionosis'), +('388','HSCR'), +('304','EBS'), +('304','EEB'), +('354','Beta-galactosidase-1 deficiency'), +('354','GLB1 deficiency'), +('354','Landing disease'), +('178315','Embryonal sarcoma of the liver'), +('178315','UES'), +('178315','Undifferentiated sarcoma of the liver'), +('178333','AIED'), +('178333','Forsius-Eriksson syndrome'), +('178333','Forsius-Eriksson type ocular albinism'), +('362','Favism'), +('362','G6PD deficiency'), +('760','PNP deficiency'), +('760','PNPase deficiency'), +('270','OPMD'), +('178303','Monosomy 8q22.1'), +('178303','Nablus mask-like facial syndrome'), +('244','PCD'), +('178311','Isolated SCCH'), +('178307','RAK'), +('589','Acquired myasthenia'), +('589','Autoimmune myasthenia gravis'), +('805','Bourneville syndrome'), +('805','Tuberous sclerosis'), +('886','Retinitis pigmentosa-deafness syndrome'), +('886','Retinitis pigmentosa-hearing loss syndrome'), +('886','USH'), +('702','Diffuse familial brain sclerosis'), +('702','PMD'), +('702','Pelizaeus-Merzbacher brain sclerosis'), +('702','Sudanophilic leukodystrophy, Paelizeus-Merzbacher type'), +('768','Congenital long QT syndrome'), +('375','Anti-GBM syndrome'), +('375','Goodpasture syndrome'), +('183','Churg-Strauss syndrome'), +('183','EGPA'), +('183','Granulomatous allergic angiitis'), +('1164','ABPA'), +('1164','Allergic aspergillosis'), +('1164','Hinson-Pepys disease'), +('2406','Cerebromedullospinal disconnection'), +('761','Anaphylactoid purpura'), +('761','Henoch-Schönlein purpura'), +('761','IgA vasculitis'), +('761','Purpura rheumatica'), +('761','Rheumatoid purpura'), +('2131','AHC'), +('713','GSD due to phosphoglycerate kinase 1 deficiency'), +('713','Glycogenosis due to phosphoglycerate kinase 1 deficiency'), +('171915','B-cell NHL'), +('57','GSD due to aldolase A deficiency'), +('57','GSD type 12'), +('57','GSD type XII'), +('57','Glycogen storage disease type 12'), +('57','Glycogen storage disease type XII'), +('57','Glycogenosis due to aldolase A deficiency'), +('57','Glycogenosis type 12'), +('57','Glycogenosis type XII'), +('2334','Hereditary keratitis'), +('171918','T-cell NHL'), +('755','46,XY DSD due to LH resistance or LHB deficiency'), +('755','46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency'), +('755','46,XY disorder of sex development due to LH resistance or LHB deficiency'), +('755','46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency'), +('46','ADSL deficiency'), +('46','Adenylosuccinase deficiency'), +('43','ALD'), +('43','X-ALD'), +('43','X-linked ALD'), +('3166','Sialuria, French type'), +('2882','Phytosterolemia'), +('3165','Diffuse fasciitis with eosinophilia'), +('3165','Shulman syndrome'), +('727','MPA'), +('727','Micropolyangiitis'), +('727','Microscopic polyarteritis'), +('900','GPA'), +('3185','PCOS'), +('3185','Polycystic ovarian syndrome'), +('3185','Stein-Leventhal syndrome'), +('863','Trichinosis'), +('171695','Pallidopyramidal syndrome'), +('134','3-ketothiolase deficiency'), +('134','3-oxothiolase deficiency'), +('134','Alpha methylacetoacetic aciduria'), +('134','Alpha-methyl-acetoacetyl-CoA thiolase deficiency'), +('134','Mitochondrial acetoacetyl-coenzyme A thiolase deficiency'), +('134','T2 deficiency'), +('171709','Male infertility due to round-headed spermatozoa'), +('171709','Round-headed sperm syndrome'), +('171714','Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome'), +('171723','Hereditary mucosal leukokeratosis'), +('171723','White sponge nevus of Cannon'), +('3467','Classic xanthinuria'), +('3467','Xanthic urolithiasis'), +('3467','Xanthine stone disease'), +('511','BCKD deficiency'), +('511','BCKDH deficiency'), +('511','Branched-chain 2-ketoacid dehydrogenase deficiency'), +('511','Branched-chain ketoaciduria'), +('511','MSUD'), +('32','Pyroglutamicaciduria'), +('171690','Erythrocyte lactate transporter defect'), +('26','Combined defect in adenosylcobalamin and methylcobalamin synthesis'), +('26','Methylmalonic aciduria with homocystinuria'), +('171863','SPG42'), +('171871','Autosomal dominant pseudohypoaldosteronism type 1'), +('322','BEEC'), +('322','Bladder exstrophy-epispadias-cloacal extrophy complex'), +('322','EEC'), +('171866','SEMD, aggrecan type'), +('2368','Laparoschisis'), +('171881','Cap disease'), +('2512','MCPH'), +('2512','Microcephalia vera'), +('2512','Microcephaly vera'), +('2512','True microcephaly'), +('171876','Autosomal recessive pseudohypoaldosteronism type 1'), +('797','Besnier-Boeck-Schaumann disease'), +('797','Boeck sarcoid'), +('92','Juvenile chronic arthritis'), +('92','Juvenile rheumatoid arthritis'), +('171829','Del(6)(q16)'), +('171829','Monosomy 6q16'), +('171829','Prader-Willi-like syndrome due to microdeletion 6q16'), +('1201','Apple peel syndrome'), +('1201','Intestinal atresia type IIIb'), +('1201','Jejunal atresia'), +('1201','Jejunoileal atresia'), +('1201','Small intestinal atresia'), +('171839','Berant syndrome'), +('171839','Capra-DeMarco syndrome'), +('171839','Familial scaphocephaly-radioulnar synostosis syndrome'), +('171851','Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome'), +('171851','Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome'), +('171848','PHARC syndrome'), +('171848','Peripheral neuropathy, Fiskerstrand type'), +('171848','Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome'), +('200418','Complete factor I deficiency'), +('730','ADPKD'), +('98','ARSACS'), +('98','Autosomal recessive spastic ataxia type 6'), +('98','SPAX6'), +('1480','Interventricular communication'), +('1480','VSD'), +('1478','ASD'), +('1478','Atrial septal defect'), +('1478','Interauricular communication'), +('330','Congenital Hageman factor deficiency'), +('1959','Autoimmune hemolytic anemia and autoimmune thrombocytopenia'), +('1959','Immune pancytopenia'), +('284','Echinococcus multilocularis infection'), +('1177','EOCA'), +('1177','EOCARR'), +('1177','Harding ataxia'), +('828','Hereditary progressive arthroophthalmopathy'), +('1431','Paroxysmal choreoathetosis'), +('1431','Paroxysmal dystonic choreoathetosis'), +('293','Antenatal herpes simplex virus infection'), +('293','Mother-to-child transmission of herpes simplex virus infection'), +('234','Dubin-Sprinz disease'), +('234','Hyperbilirubinemia type 2'), +('234','Sprinz-Nelson syndrome'), +('199343','Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome'), +('199343','Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome'), +('199343','SeSAME syndrome'), +('199343','Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome'), +('199343','Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome'), +('1928','Congenital lobar hyperinflation'), +('1928','Infantile lobar hyperinflation'), +('199332','ECO syndrome'), +('3463','DIDMOAD syndrome'), +('3463','Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome'), +('3463','Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome'), +('199633','Non-syndromic brain malformation'), +('549','Legionnaires disease'), +('199354','CARASIL'), +('199354','Maeda syndrome'), +('199351','Dystonia-parkinsonism, Paisan-Ruiz type'), +('199351','PARK14'), +('199351','PLA2G6-related dystonia-parkinsonism'), +('356','Subacute spongiform encephalopathy, Gerstmann-Straussler type'), +('1983','Chronic fatigue immune dysfunction syndrome'), +('1983','Myalgic encephalomyelitis'), +('3452','Intestinal lipodystrophy'), +('199282','Progressive isolated segmental anhidrosis'), +('2331','Mucocutaneous lymph node syndrome'), +('2102','GTPCH deficiency'), +('2102','Hyperphenylalaninemia due to GTP cyclohydrolase deficiency'), +('199260','Juvenile aponeurotic fibromatosis'), +('199260','Keasby tumor'), +('3002','ITP'), +('3002','Immune thrombocytopenic purpura'), +('199267','Inclusion body fibromatosis'), +('199267','Recurring digital fibrous tumor of childhood'), +('199267','Reye tumor'), +('199318','Del(15)(q13.3)'), +('199318','Monosomy 15q13.3'), +('199310','46,XX/46,XY chimerism'), +('274','Giant platelet syndrome'), +('274','Hemorrhagiparous thrombocytic dystrophy'), +('1195','Congenital hypotransferrinemia'), +('199306','Alveolar cleft lip and palate'), +('199306','Cleft lip and palate'), +('199306','Cleft lip-alveolus-palate syndrome'), +('199306','FLP'), +('926','Catalase deficiency'), +('3020','Facial nerve palsy due to VZV'), +('3020','Facial nerve palsy due to herpes zoster infection'), +('3020','Facial nerve paralysis due to VZV'), +('1675','Familial pyrimidinemia'), +('189427','Primary bilateral macronodular adrenal hyperplasia'), +('976','2,8-dihydroxyadenine urolithiasis'), +('976','APRT deficiency'), +('3129','Sarcosine dehydrogenase complex deficiency'), +('415','HHH syndrome'), +('415','ORNT1 deficiency'), +('415','Ornithine carrier deficiency'), +('415','Ornithine translocase deficiency'), +('415','Triple H syndrome'), +('13','Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency'), +('2494','Giant hypertrophic gastritis'), +('2494','Hypoproteinemic hypertrophic gastropathy'), +('171','PSC'), +('199251','Plantar fibromatosis'), +('199247','Transcortin deficiency'), +('2134','Atypical HUS'), +('2134','aHUS'), +('189439','PPNAD'), +('189439','Primary pigmented nodular adrenal dysplasia'), +('3006','Antiquitin deficiency'), +('3006','Vitamin B6-dependent seizures'), +('3111','Hyperbilirubinemia, Rotor type'), +('2806','Dawson encephalitis'), +('2806','SSPE'), +('2806','Subacute inclusion body encephalitis'), +('2806','Subacute sclerosing panencephalitis'), +('2806','Van Bogaert disease'), +('2806','Van Bogaert encephalitis'), +('120','Acquired pernicious anemia'), +('120','Addison-Biermer anemia'), +('120','Addisonian anemia'), +('120','Biermer anemia'), +('120','Biermer disease'), +('120','Juvenile onset pernicious anemia'), +('1934','EIEE'), +('1934','Early infantile epileptic encephalopathy with suppression-bursts'), +('1934','Ohtahara syndrome'), +('845','GM2 gangliosidosis, B, B1 variant'), +('845','Hexosaminidase A deficiency'), +('1942','Doose syndrome'), +('1942','EMAS'), +('1942','Epilepsy with myoclonic-astatic seizures'), +('1942','Epilepsy with myoclonic-atonic seizures'), +('1942','MAE'), +('1942','Myoclonic atonic epilepsy'), +('1942','Myoclonic-astatic epilepsy in early childhood'), +('1935','Early myoclonic encephalopathy with suppression-bursts'), +('3451','Infantile spasms'), +('3451','Intellectual disability-hypsarrhythmia syndrome'), +('2302','Asbestosis'), +('3386','Chagas disease'), +('267','Autosomal recessive limb-girdle muscular dystrophy type 2A'), +('267','Calpain-3-related LGMD R1'), +('267','LGMD type 2A'), +('267','LGMD2A'), +('267','Limb-girdle muscular dystrophy due to calpain deficiency'), +('267','Limb-girdle muscular dystrophy type 2A'), +('267','Primary calpainopathy'), +('1329','CAVC'), +('1329','Complete AVSD'), +('1329','Complete atrioventricular canal defect'), +('582','MPS4'), +('582','MPSIV'), +('582','Morquio disease'), +('582','Mucopolysaccharidosis type IV'), +('2137','AIH'), +('186','Hanot syndrome'), +('186','PBC'), +('186','Primary biliary cirrhosis'), +('1136','Arnold-Chiari malformation type 2'), +('1136','Chiari malformation type 2'), +('1136','Chiari malformation type II'), +('397','Horton disease'), +('397','Temporal arteritis'), +('2932','CIDP'), +('2932','Chronic inflammatory demyelinating polyradiculoneuropathy'), +('2398','Cephalothoracic lipodystrophy'), +('2398','Familial benign cervical lipomatosis'), +('2398','Launois-Bensaude lipomatosis'), +('2398','Madelung disease'), +('1656','Duhring-Brocq disease'), +('855','Hashimoto hypothyroidism'), +('855','Hashimoto struma'), +('850','MHA'), +('850','May-Hegglin anomaly'), +('850','May-Hegglin syndrome'), +('3198','Moersch-Woltman syndrome'), +('3198','SMS'), +('3198','SPS'), +('3198','Stiff man syndrome'), +('2929','JIP'), +('2929','JPS'), +('2929','Juvenile gastrointestinal polyposis'), +('2929','Juvenile intestinal polyposis'), +('654','Renal embryonic tumor'), +('654','Wilms tumor'), +('1489','Pertussis'), +('2764','König disease'), +('2587','MPO deficiency'), +('183672','CVID due to TNFR deficiency'), +('2103','GBS'), +('2103','Guillain-Barré-Strohl syndrome'), +('183666','HIGM without susceptibility to opportunistic infections'), +('2070','EGE'), +('2070','Eosinophilic enteritis'), +('2070','Eosinophilic gastroenterocolitis'), +('183663','HIGM with susceptibility to opportunistic infections'), +('2312','Lucey-Driscoll syndrome'), +('2314','AD-HIES'), +('2314','Autosomal dominant HIES'), +('2314','Autosomal dominant hyperimmunoglobulin E syndrome'), +('2314','Buckley syndrome'), +('2314','Hyperimmunoglobulin E syndrome type 1'), +('2314','Hyperimmunoglobulin E-recurrent infection syndrome'), +('2314','Job syndrome'), +('2314','STAT3 deficiency'), +('183678','HPS2'), +('183678','Hermansky-Pudlak syndrome type 2'), +('183675','IgG subclass deficiency with IgA subclass deficiency'), +('183675','Isolated IgG subclass deficiency'), +('183675','Kappa-chain deficiency'), +('183675','Selective IgG subclass deficiency'), +('533','Listeria infection'), +('2380','Aseptic necrosis of the capital femoral epiphysis'), +('2380','Osteochondrosis of the capital femoral epiphysis'), +('2380','Perthes disease'), +('683','PSP syndrome'), +('2810','Bell palsy'), +('183660','SCID'), +('897','Shah-Waardenburg syndrome'), +('897','WS4'), +('897','Waardenburg syndrome type 4'), +('897','Waardenburg-Hirschsprung syndrome'), +('844','Atrial tachyarrhythmia with short PR interval'), +('844','LGL syndrome'), +('3027','Caudal dysplasia'), +('3027','Sacral agenesis syndrome'), +('3027','Sacral regression syndrome'), +('643','GAN'), +('634','Bamboo hair syndrome'), +('634','Comèl-Netherton syndrome'), +('634','NS'), +('140','Campomelic dwarfism'), +('2828','Early-onset Parkinson disease'), +('2828','YOPD'), +('642','CIPA'), +('642','Congenital insensitivity to pain with anhidrosis'), +('642','HSAN4'), +('642','Hereditary sensory and autonomic neuropathy type IV'), +('638','NFNS'), +('638','Neurofibromatosis type 1-Noonan syndrome'), +('326','Owren disease'), +('326','Parahemophilia'), +('326','Proaccelerin deficiency'), +('526','Pseudoaldosteronism'), +('526','Pseudohyperaldosteronism type 1'), +('650','Lecithin-cholesterol acyltransferase deficiency'), +('215','Congenital essential nyctalopia'), +('342','Benign paroxysmal peritonitis'), +('342','Benign recurrent polyserositis'), +('342','FMF'), +('342','Familial paroxysmal polyserositis'), +('342','Periodic disease'), +('180','CHM'), +('180','Tapetochoroidal dystrophy'), +('754','AIS'), +('754','Androgen resistance syndrome'), +('754','Goldberg-Maxwell syndrome'), +('754','Morris syndrome'), +('754','Testicular feminization syndrome'), +('253','SED and SEMD'), +('327','Congenital proconvertin deficiency'), +('327','Hypoproconvertinemia'), +('373','DGSX'), +('373','Golabi-Rosen syndrome'), +('373','SDYS'), +('373','SGBS'), +('373','SGBS1'), +('373','Simpson dysmorphia syndrome'), +('373','Simpson-Golabi-Behmel syndrome type 1'), +('373','X-linked dysplasia gigantism syndrome'), +('403','Dexamethasone-sensitive hypertension'), +('403','FH-I'), +('403','FH1'), +('403','Familial hyperaldosteronism type 1'), +('403','GRA'), +('403','Glucocorticoid-remediable aldosteronism'), +('403','Glucocorticoid-sensitive hypertension'), +('574','21q deletion syndrome'), +('574','21q- syndrome'), +('574','Partial 21q monosomy'), +('183490','Genetic skin photosensitivity'), +('183490','Photogenodermatosis'), +('183490','Photogénodermatose'), +('653','MEN2'), +('146','Papillary or follicular thyroid carcinoma'), +('146','Well-differentiated thyroid carcinoma'), +('157','CPT2'), +('157','CPTII'), +('157','Carnitine palmitoyltransferase deficiency type 2'), +('847','ATR-X syndrome'), +('1446','Ring 22'), +('1446','Ring chromosome 22'), +('1446','r(22) syndrome'), +('183435','Genetic ichthyosis'), +('2268','Immunodeficiency-centromeric instability-facial anomalies syndrome'), +('475','CPD IV'), +('475','Cerebelloparenchymal disorder IV'), +('475','Classic Joubert syndrome'), +('475','Joubert syndrome type A'), +('475','Joubert-Boltshauser syndrome'), +('475','Pure Joubert syndrome'), +('392','Atriodigital dysplasia type 1'), +('392','HOS'), +('392','Heart-hand syndrome type 1'), +('113','BDCS'), +('113','Follicular atrophoderma and basal cell carcinomas'), +('243','46,XX complete gonadal dysgenesis'), +('243','46,XX ovarian dysgenesis'), +('243','46,XX pure gonadal dysgenesis'), +('243','FSH-RO'), +('243','Follicular stimulating hormone-resistant ovaries'), +('243','Hypergonadotropic ovarian dysgenesis'), +('243','XX female gonadal dysgenesis'), +('243','XX-GD'), +('136','CADASIL'), +('136','Hereditary multi-infarct dementia'), +('48','Congenital bilateral agenesis of vas deferens'), +('48','Congenital bilateral aplasia of vas deferens'), +('528','BSCL'), +('528','Berardinelli-Seip syndrome'), +('528','GCL'), +('528','Generalized congenital lipodystrophy'), +('528','Lipoatrophic diabetes'), +('275','SCID due to ARTEMIS deficiency'), +('275','SCID due to DCLRE1C deficiency'), +('275','SCID, Athabascan type'), +('275','SCID, Athabaskan type'), +('275','Severe combined immunodeficiency due to ARTEMIS deficiency'), +('275','Severe combined immunodeficiency, Athabascan type'), +('275','Severe combined immunodeficiency, Athabaskan type'), +('182090','PAH'), +('182095','ILD'), +('184','CRBM'), +('182104','CTD-ILD'), +('182104','Secondary ILD in childhood and adulthood associated with a connective tissue disease'), +('71','Anderson disease'), +('71','CMRD'), +('71','CRD'), +('182067','Glioma'), +('1949','BFNS'), +('1949','Benign familial neonatal convulsions'), +('1949','Benign familial neonatal seizures'), +('189','Clouston syndrome'), +('1344','Atrial cardiomyopathy with heart block'), +('182050','MYH9-RD'), +('182050','MYH9-related disorder'), +('182050','MYH9-related syndrome'), +('182050','MYH9-related syndromic thrombocytopenia'), +('3103','Pseudothalidomide syndrome'), +('3103','Roberts-SC phocomelia syndrome'), +('3103','SC phocomelia'), +('3103','SC pseudothalidomide syndrome'), +('709','Krause-Kivlin syndrome'), +('709','Krause-van Schooneveld-Kivlin syndrome'), +('709','Peters anomaly with short limb dwarfism'), +('181441','Rare disorder with primary hypogonadism'), +('776','Lujan syndrome'), +('776','Lujan-Fryns syndrome'), +('670','Trichothiodystrophy type F'), +('670','Trichothiodystrophy-sun sensitivity syndrome'), +('907','Ventricular familial preexcitation syndrome'), +('181393','GHIS'), +('181393','Short stature due to a defect in growth hormone receptor or post-receptor pathway'), +('902','Adult progeria'), +('902','WS'), +('888','Cleft lip/palate with mucous cysts of lower lip'), +('888','Lip-pit syndrome'), +('888','VWS'), +('181415','Rare primary aldosteronism'), +('453','Tay syndrome'), +('453','Trichothiodystrophy type E'), +('453','Trichothiodystrophy with congenital ichthyosis'), +('871','Familial Lenègre disease'), +('871','Familial Lev disease'), +('871','Familial Lev-Lenègre disease'), +('871','Familial PCCD'), +('871','Familial progressive heart block'), +('871','Hereditary bundle branch defect'), +('1597','Distal 17q deletion'), +('1597','Monosomy 17qter'), +('1597','Telomeric deletion 17q'), +('1590','13q32 deletion'), +('1590','Deletion 13q32'), +('1590','Distal 13q deletion'), +('1590','Monosomy 13q32'), +('1590','Telomeric deletion13q'), +('1587','Del(13)(q14)'), +('1587','Deletion 13q14'), +('1625','Monosomy 4q'), +('1621','Del(3)(q13)'), +('1621','Monosomy 3q13'), +('1620','3p- syndrome'), +('1620','Distal 3p deletion'), +('1620','Monosomy 3pter'), +('1620','Telomeric monosomy 3p'), +('1611','Monosomy 20p'), +('1643','Del(X)(p23)'), +('1627','Del (5)(q35)'), +('1627','Del (5)(qter)'), +('1627','Distal 5q deletion'), +('1627','Monosomy 5q35'), +('1627','Telomeric deletion 5q'), +('1699','Duplication 12p'), +('1695','Non-distal duplication 10q'), +('1695','Non-telomeric trisomy 10q'), +('500','Cardiomyopathic lentiginosis'), +('500','Familial multiple lentigines syndrome'), +('500','LEOPARD syndrome'), +('233','DRS'), +('233','DURS'), +('233','Duane syndrome'), +('233','Stilling-Turk-Duane syndrome'), +('657','CHI'), +('657','PHHI'), +('657','Persistent hyperinsulinemic hypoglycemia of infancy'), +('240','Léri-Weill syndrome'), +('2311','Jarcho-Levin syndrome'), +('358','Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria'), +('242','46,XY CGD'), +('242','46,XY pure gonadal dysgenesis'), +('242','Swyer syndrome'), +('2052','Cryptophthalmos-syndactyly syndrome'), +('1358','Myopathy-Moebius-Robin syndrome'), +('111','3-methylglutaconic aciduria type 2'), +('111','BTHS'), +('111','Cardioskeletal myopathy with neutropenia and abnormal mitochondria'), +('111','Cardioskeletal myopathy-neutropenia syndrome'), +('111','MGA2'), +('111','X-linked cardioskeletal myopathy and neutropenia'), +('1308','OTCS'), +('1308','Opitz C trigonocephaly'), +('1308','Opitz trigonocephaly C syndrome'), +('1308','Opitz trigonocephaly syndrome'), +('1308','Trigonocephaly C syndrome'), +('150','Squamous cell carcinoma of the nasopharynx'), +('133','Berylliosis'), +('133','Chronic berylliosis'), +('133','Chronic beryllium lung disease'), +('1552','Currarino triad'), +('1450','Ring 8'), +('1450','Ring chromosome 8'), +('1450','r(8) syndrome'), +('1448','Ring 6'), +('1448','Ring chromosome 6'), +('1581','Non-distal deletion 10q'), +('1581','Non-telomeric monosomy 10q'), +('1580','Distal 10p deletion'), +('1580','Monosomy 10pter'), +('1580','Telomeric deletion 10p'), +('1437','Ring 1'), +('1437','Ring chromosome 1'), +('1437','r(1) syndrome'), +('172','PFIC'), +('164','Brain cavernous angioma'), +('164','Brain cavernous hemangioma'), +('164','Cerebral cavernoma'), +('1447','Ring 4'), +('1447','Ring chromosome 4'), +('1447','Syndrome r(4)'), +('1447','r(4) syndrome'), +('1444','Ring 20'), +('1444','Ring chromosome 20'), +('1439','Ring 12'), +('1439','Ring chromosome 12'), +('1438','Ring 10'), +('1438','Ring chromosome 10'), +('2615','Amyotrophy-fat tissue anomaly syndrome'), +('2615','Secondary hypertrophic osteoperiostosis with pernio'), +('624','Familial multiple port-wine stains'), +('3306','Duplication/inversion 15q11'), +('3306','Inv dup (15) syndrome'), +('3306','Isodicentric chromosome 15 syndrome'), +('3306','Non-distal tetrasomy 15q'), +('3306','Non-telomeric tetrasomy 15q'), +('3306','idic (15) syndrome'), +('3375','47,XXX syndrome'), +('3375','Triple X syndrome'), +('3375','Triplo-X syndrome'), +('3375','XXX syndrome'), +('3310','Isochromosome 9p'), +('3000','FMPP'), +('3000','Familial gonadotropin-independent male-limited sexual precocity'), +('3000','Male-limited precocious puberty'), +('3000','Testotoxicosis'), +('680','NormoKPP'), +('680','NormoPP'), +('680','Normokalemic PP'), +('680','Periodic paralysis type 3'), +('680','Potassium-sensitive normokalemic periodic paralysis'), +('1708','Mosaic trisomy chromosome 16'), +('1708','Trisomy 16 mosaicism'), +('1711','Mosaic trisomy chromosome 17'), +('1711','Trisomy 17 mosaicism'), +('1692','Mosaic trisomy chromosome 1'), +('1692','Trisomy 1 mosaicism'), +('1698','Mosaic trisomy chromosome 12'), +('1698','Trisomy 12 mosaicism'), +('1706','Mosaic trisomy chromosome 15'), +('1706','Trisomy 15 mosaicism'), +('916','Aase-Smith I syndrome'), +('916','Hydrocephalus-cleft palate-joint contractures syndrome'), +('918','Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome'), +('918','Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome'), +('1445','Chromosome 21 en anneau'), +('1445','Ring 21'), +('1445','Ring chromosome 21'), +('7','Craniocerebellocardiac dysplasia'), +('7','Ritscher-Schinzel syndrome'), +('931','Acheiropody'), +('869','2A syndrome'), +('869','3A syndrome'), +('869','4A syndrome'), +('869','AAA syndrome'), +('869','Achalasia-addisonianism-alacrima syndrome'), +('869','Adrenal insufficiency-achalasia-alacrima syndrome'), +('869','Allgrove syndrome'), +('869','Double A syndrome'), +('869','Quaternary A syndrome'), +('921','CHARGE-like syndrome'), +('921','Cleft palate-coloboma-deafness syndrome'), +('921','Cleft palate-coloboma-hearing loss syndrome'), +('27','Methylmalonyl-CoA mutase deficiency'), +('27','Methylmalonyl-Coenzyme A mutase deficiency'), +('27','Vitamin B12-unresponsive methylmalonic aciduria'), +('31','Alpha-ketoglutarate dehydrogenase deficiency'), +('935','Achondroplasia-SCID syndrome'), +('935','Achondroplasia-Swiss type agammaglobulinemia syndrome'), +('935','Achondroplasia-severe combined immunodeficiency syndrome'), +('935','Immunodeficiency-short limb dwarfism syndrome'), +('935','Short limb skeletal dysplasia with SCID'), +('37','AEZ'), +('37','Acrodermatitis enteropathica, zinc deficiency type'), +('37','Inherited zinc deficiency'), +('950','Acrodysplasia'), +('950','Arkless-Graham syndrome'), +('950','Maroteaux-Malamut syndrome'), +('949','Kaplan-Plauchu-Fitch syndrome'), +('945','Primary acalvaria'), +('946','ACS'), +('946','Acrocephalosyndactylia'), +('957','F syndrome'), +('958','Split hand/split foot-mandibular hypoplasia syndrome'), +('955','Acrodentoosteodysplasia'), +('955','Acroosteolysis with osteoporosis and changes in skull and mandible'), +('955','Arthrodentoosteodysplasia'), +('955','Cheney syndrome'), +('955','Hajdu-Cheney syndrome'), +('952','Curry-Hall syndrome'), +('952','Weyers acrodental dysostosis'), +('952','Weyers acrofacial dysostosis'), +('1702','Non-distal duplication 13q'), +('1702','Non-telomeric trisomy 13q'), +('1703','Mosaic trisomy chromosome 14'), +('1703','Trisomy 14 mosaicism'), +('1705','Distal duplication 14q'), +('1705','Telomeric duplication 14q'), +('1705','Trisomy 14qter'), +('1713','Potocki-Lupski syndrome'), +('1713','Trisomy 17p11.2'), +('1738','Duplication 4p'), +('1738','Duplication of the short arm of chromosome 4'), +('1738','Trisomy of the short arm of chromosome 4'), +('1739','Trisomy 4q'), +('1742','Duplication 5p'), +('1742','Duplication of the short arm of chromosome 5'), +('1742','Trisomy of the short arm of chromosome 5'), +('1745','Distal duplication 6p'), +('1745','Telomeric duplication 6p'), +('1745','Trisomy 6pter'), +('1752','Duplication 8q'), +('1762','Distal duplication Xq'), +('1762','Telomeric duplication Xq'), +('1878','Autosomal recessive limb-girdle muscular dystrophy type 2H'), +('1878','LGMD due to TRIM32 deficiency'), +('1878','LGMD type 2H'), +('1878','LGMD2H'), +('1878','Limb-girdle muscular dystrophy due to TRIM32 deficiency'), +('1878','Limb-girdle muscular dystrophy type 2H'), +('1878','Sarcotubular myopathy'), +('1878','TRIM32-related LGMD R8'), +('1876','Visceral myopathy-familial external ophthalmoplegia syndrome'), +('1948','Battaglia-Neri syndrome'), +('1946','Epilepsy-dementia-amelogenesis imperfecta syndrome'), +('1946','Kohlschütter-Tönz syndrome'), +('1981','Deal-Barrat-Dillon syndrome'), +('381','Chédiak-Higashi-like syndrome'), +('381','Griscelli-Pruniéras syndrome'), +('381','Partial albinism-immunodeficiency syndrome'), +('2604','Familial hollow visceral myopathy'), +('2604','Hereditary hollow visceral myopathy'), +('2604','Megaduodenum and/or megacystis'), +('156','CPT1A deficiency'), +('156','Carnitine palmitoyl transferase IA deficiency'), +('156','Hepatic carnitine palmitoyl transferase 1 deficiency'), +('156','Hepatic carnitine palmitoyl transferase I deficiency'), +('156','L-CPT1 deficiency'), +('156','L-CPTI deficiency'), +('2597','Mitochondrial myopathy-lactic acidosis-hearing loss syndrome'), +('2598','MLASA'), +('2598','Myopathy, lactic acidosis and sideroblastic anemia'), +('1088','Rommen-Mueller-Sybert syndrome'), +('1078','Piussan-Lenaerts-Mathieu syndrome'), +('1077','Ankylosis of teeth'), +('1074','Aughton-Hufnagle syndrome'), +('1071','AEC syndrome'), +('1071','Hay-Wells syndrome'), +('1068','Walker-Dyson syndrome'), +('1064','Sommer-Rathbun-Battles syndrome'), +('1060','Brunzell syndrome'), +('1053','Vein of Galen arteriovenous malformations'), +('1052','Warburton-Anyane-Yeboa syndrome'), +('1040','Maroteaux-Verloes-Stanescu syndrome'), +('1040','Regressive metaphyseal dysplasia'), +('1041','Fetal anasarca'), +('1041','Fetal hydrops'), +('1041','Generalized fetal edema'), +('1041','HF'), +('1037','AMC'), +('1037','Multiple congenital arthrogryposis'), +('1125','Oculomotor apraxia, Cogan type'), +('1120','Mardini-Nyhan syndrome'), +('1122','Ulnar hypoplasia-lobster-claw deformity of feet syndrome'), +('1122','Van den Berghe-Dequecker syndrome'), +('1116','Bronspiegel-Zelnick syndrome'), +('1117','Gershoni-Baruch-Leibo syndrome'), +('1112','Johnson-Munson syndrome'), +('1106','Anophthalmia-syndactyly syndrome'), +('1106','OAS'), +('1106','Ophthalmoacromelic syndrome'), +('1106','Waardenburg anophthalmia syndrome'), +('1102','14q22 microdeletion syndrome'), +('1102','Al Frayh-Facharzt-Haque syndrome'), +('1102','Monosomy 14q22'), +('1104','Fryns microphthalmia syndrome'), +('1104','Microphthalmia with facial clefting'), +('1094','Teebi-Kaurah syndrome'), +('991','Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome'), +('989','Aglossia-adactylia syndrome'), +('989','Hanhart syndrome'), +('989','Jussieu syndrome'), +('994','Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome'), +('994','FADS'), +('994','Pena-Shokeir syndrome type 1'), +('51','Encephalopathy with basal ganglia calcification'), +('51','Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid'), +('978','Acro-dermato-ungual-lacrimal-tooth syndrome'), +('978','Pigment anomaly-ectrodactyly-hypodontia syndrome'), +('988','Absent tibia-polydactyly syndrome'), +('983','ETRS'), +('983','Embryonic testicular regression syndrome'), +('983','TRS'), +('983','Vanishing testes syndrome'), +('983','Vanishing testis syndrome'), +('983','XY gonadal agenesis syndrome'), +('970','Autosomal recessive sensory radicular neuropathy'), +('970','HSAN2'), +('970','Hereditary sensory and autonomic neuropathy type II'), +('970','Neurogenic acroosteolysis'), +('139012','Rare skeletal development disorder'), +('974','AOS'), +('974','Congenital scalp defects with distal limb anomalies'), +('974','Congenital scalp defects with distal limb reduction anomalies'), +('974','Limb, scalp and skull defects'), +('973','Adactyly of hand, unilateral'), +('973','Digits 2-5 hypodactyly, unilateral'), +('973','Digits 2-5 oligodactyly, unilateral'), +('968','Acromesomelic dwarfism'), +('966','HAFF'), +('966','Hypertrichosis-acromegaloid facial features syndrome'), +('966','Hypertrichosis-coarse face syndrome'), +('1028','Ameloonychohypohidrotic ectodermal dysplasia'), +('1028','Ameloonychohypohidrotic syndrome'), +('1031','Amelogenesis imperfecta-nephrocalcinosis syndrome'), +('139420','Disease-associated transverse myelitis'), +('1034','ADAM syndrome'), +('1034','Amniotic deformity-adhesion-mutilation syndrome'), +('139423','ATM/TM'), +('139426','POMA'), +('139431','EMEA'), +('139431','Eyelid myoclonia with and without absences'), +('1035','3-mercaptopyruvate sulfurtransferase deficiency'), +('1035','Ampola syndrome'), +('1035','MCDU'), +('139436','Giant cell histiocytomatosis'), +('139436','Lipoid dermatoarthritis'), +('139373','NADH-cytochrome b5reductase deficiency type 1'), +('139373','NADH-diaphorase deficiency type 1'), +('139373','Recessive congenital methemoglobinemia type 1'), +('139380','NADH-cytochrome b5reductase deficiency type 2'), +('139380','NADH-diaphorase deficiency type 2'), +('139380','Recessive congenital methemoglobinemia type 2'), +('1023','Ambras syndrome'), +('139396','X-CALD'), +('139402','DRESS syndrome'), +('139402','Drug reaction eosinophilic systemic syndrome'), +('139406','Combined prosaposin deficiency'), +('1008','Shokeir syndrome'), +('1010','Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia'), +('1010','PPK-CA, Stevanovic type'), +('1010','Palmoplantar keratoderma and congenital alopecia, Stevanovic type'), +('1011','Devriendt-Legius-Fryns syndrome'), +('1014','Devriendt-Vandenberghe-Fryns syndrome'), +('1001','Albright hereditary osteodystrophy type 3'), +('1001','Albright hereditary osteodystrophy-like syndrome'), +('1001','Brachydactyly-intellectual disability syndrome'), +('1001','Del(2)(q37)'), +('1001','Deletion 2q37'), +('1001','Monosomy 2q37qter'), +('59','AHDS'), +('59','MCT8 deficiency'), +('59','Monocarboxylate transporter 8 deficiency'), +('59','X-linked intellectual disability-hypotonia syndrome'), +('1005','ACD-intellectual disability syndrome'), +('1253','Blepharochalasis-double lip syndrome'), +('1251','Richieri Costa-Guion Almeida-Rodini syndrome'), +('1252','Pashayan syndrome'), +('1252','Pashayan-Pruzansky syndrome'), +('1248','Binder syndrome'), +('1248','Maxillonasal dysostosis'), +('1250','Tracheo-esophageal fistula-symphalangism syndrome'), +('127','BFLS'), +('127','Intellectual disability-epilepsy-endocrine disorders syndrome'), +('1264','Bork syndrome'), +('1264','Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome'), +('1261','Encephalopathy-intracerebral calcification-retinal degeneration syndrome'), +('1256','Jorgenson-Lenz syndrome'), +('1235','Basan syndrome'), +('1234','Autosomal recessive popliteal pterygium syndrome'), +('1234','Lethal popliteal pterygium syndrome'), +('1231','Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome'), +('1229','BLC-PMG'), +('1229','Baraitser-Brett-Piesowicz syndrome'), +('1229','Baraitser-Reardon syndrome'), +('1229','Bilateral band-like calcification with polymicrogyria'), +('1229','Microcephaly-intracranial calcification-intellectual disability syndrome'), +('1229','Pseudo-TORCH syndrome'), +('109','BRRS'), +('109','Myhre-Riley-Smith syndrome'), +('1241','Hemifacial hyperplasia-strabismus syndrome'), +('1240','Bellini syndrome'), +('1240','Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome'), +('1237','Lethal hydrocephalus-cardiac malformation-dense bones syndrome'), +('115','Beals syndrome'), +('115','Beals-Hecht syndrome'), +('115','CCA syndrome'), +('115','Distal arthrogryposis type 9'), +('137617','Nephrogenic fibrosing dermopathy'), +('1292','BOD syndrome'), +('1292','Senior syndrome'), +('137625','GSD due to muscle and heart glycogen synthase deficiency'), +('137625','GSD type 0b'), +('137625','Glycogen storage disease type 0b'), +('137625','Glycogenosis due to muscle and heart glycogen synthase deficiency'), +('137625','Glycogenosis type 0b'), +('137608','SOLAMEN syndrome'), +('137658','Woods-Crouchman-Huson syndrome'), +('1299','BSG syndrome'), +('1299','Elsahy-Waters syndrome'), +('137653','Kelly-Kirson-Wyatt syndrome'), +('1300','Facio-genito-popliteal syndrome'), +('1300','Popliteal web syndrome'), +('137667','CM-AVM'), +('1296','Branchial dysplasia-intellectual disability-inguinal hernia syndrome'), +('1297','BOFS'), +('137639','Ataxia-delayed dentition-hypomyelination syndrome'), +('137577','HIE'), +('137577','Hypoxic and ischemic brain injury in the newborn'), +('137577','Hypoxic-ischemic encephalopathy'), +('137577','Perinatal asphyxia'), +('137577','Perinatal hypoxia'), +('137583','VIN'), +('137583','Vulvar intraepithelial tumor'), +('1276','Bilginturan brachydactyly'), +('1276','Bilginturan syndrome'), +('1276','Brachydactyly type E, with short stature and hypertension'), +('1275','Brachydactyly-joint dysplasia syndrome'), +('1275','Liebenberg syndrome'), +('137586','HSV keratitis'), +('137586','Herpetic keratitis'), +('1270','Bowen syndrome, Hutterite type'), +('137605','NF1-like syndrome'), +('137605','Neurofibromatosis 1-like syndrome'), +('137596','Neurotrophic keratitis'), +('1166','Isolated asymmetric crying facies'), +('1168','AOA1'), +('137820','Endometriosis outside pelvis'), +('137817','Adhesive arachnoiditis'), +('137817','Chronic arachnoiditis'), +('137839','Lemierre postanginal sepsis'), +('137839','Postanginal sepsis secondary to orophyngeal infection'), +('137839','Septic phlebitis of the internal jugular vein'), +('137834','Ter Haar syndrome'), +('137831','OPHN1 syndrome'), +('137831','Oligophrenin-1 syndrome'), +('1170','Autosomal recessive spinocerebellar ataxia type 2'), +('1170','SCAR2'), +('137862','Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome'), +('1180','Boucher-Neuhäuser syndrome'), +('1179','Ouvrier-Billson syndrome'), +('137871','Laminopathy with severe metabolic syndrome and myopathy'), +('1173','Gordon-Holmes syndrome'), +('1173','Luteinizing hormone-releasing hormone deficiency with ataxia'), +('137867','MMND'), +('137681','Hepatoencephalopathy due to COXPD1'), +('1137','Kashani-Strom-Utley syndrome'), +('1133','Acrorenal defect-ectodermal dysplasia-diabetes syndrome'), +('137675','Foamy myocardial transformation of infancy'), +('137675','Infantile cardiomyopathy with histiocytoid change'), +('137675','Infantile xanthomatous cardiomyopathy'), +('137675','Oncocytic cardiomyopathy'), +('1131','Mandibulofacial dysostosis, Toriello type'), +('1131','X-linked branchial arch syndrome'), +('1131','X-linked mandibulofacial dysostosis with limb anomalies'), +('137698','CMV disease in patients with impaired cell mediated immunity deemed at risk'), +('137754','ACY1D'), +('137754','N-acyl-L-amino acid amidohydrolase deficiency'), +('1145','SMAX2'), +('1145','Spinal muscular atrophy with arthrogryposis'), +('1145','X-linked distal arthrogryposis multiplex congenita'), +('1145','X-linked spinal muscular atrophy type 2'), +('1144','Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome'), +('1144','Distal arthrogryposis type 6'), +('137776','LCCS2'), +('137776','Multiple contracture syndrome, Israeli-Bedouin type'), +('1150','Illum syndrome'), +('1149','Arthrogryposis-like syndrome'), +('1149','Kuskokwim disease'), +('137807','PLCA'), +('137807','Primary localized cutaneous amyloidosis'), +('1159','Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome'), +('137810','PLCNA'), +('137810','Primary localized cutaneous nodular amyloidosis'), +('137783','LCCS3'), +('1214','Hemifacial atrophy'), +('1214','PHA'), +('1214','Parry-Romberg syndrome'), +('1214','Progressive facial hemiatrophy'), +('1214','Romberg syndrome'), +('1215','DOA+'), +('1215','Optic atrophy-deafness-polyneuropathy-myopathy syndrome'), +('1215','Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome'), +('138041','Pierre Robin sequence associated with collagen disease'), +('1216','Autosomal dominant benign distal spinal muscular atrophy'), +('1216','Congenital benign spinal muscular atrophy with contractures'), +('1216','Congenital nonprogressive spinal muscular atrophy'), +('138047','Pierre Robin sequence associated with a chromosomal anomaly'), +('1219','Auralcephalosyndactyly'), +('1219','Kurczynski-Casperson syndrome'), +('138055','Pierre Robin sequence associated with bone disease'), +('138050','Pierre Robin sequence associated with branchial archs anomalies'), +('138063','Syndrome associated with Pierre Robin sequence'), +('138059','Teratogenic Pierre Robin sequence'), +('138069','Sucking/swallowing disorder not related with Pierre Robin sequence'), +('1226','Athyroidal hypothyroidism-spiky hair-cleft palate syndrome'), +('1226','Bamforth syndrome'), +('1226','Hypothyroidism-cleft palate syndrome'), +('138066','Pierre Robin sequence associated with miscellaneous anomalies'), +('1227','Ataxia-diabetes-goiter-gonadal insufficiency syndrome'), +('1184','Fenton-Wilkinson-Toselano syndrome'), +('1182','Autosomal dominant spastic ataxia type 7'), +('1182','SPAX7'), +('137888','Question mark ear syndrome'), +('137893','Macrocephalic sperm head syndrome'), +('137893','Male infertility due to macrozoospermia'), +('1186','IOSCA'), +('1186','Ohaha syndrome'), +('1186','Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome'), +('137898','LBSL'), +('137898','Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome'), +('1188','Ataxia-hearing loss-intellectual disability syndrome'), +('1188','Reardon-Baraitser syndrome'), +('1187','Arts syndrome'), +('1187','Lethal ataxia with hearing loss and optic atrophy'), +('1190','AO1'), +('1190','AOI'), +('1190','Atelosteogenesis type 1'), +('1190','Giant cell chondrodysplasia'), +('1190','Spondylo-humero-femoral dysplasia'), +('137908','COXPD5'), +('137908','Combined oxidative phosphorylation defect type 5'), +('1193','X-linked intellectual disability, Atkin type'), +('1200','Burn-McKeown syndrome'), +('137932','Congenital vocal cord paralysis'), +('1449','Ring 7'), +('1449','Ring chromosome 7'), +('141242','Alar cleft'), +('141242','Alar rim cleft'), +('141242','Cleft nose'), +('141242','Isolated cleft of the ala nasi'), +('141242','Isolated coloboma of the nose'), +('141242','Tessier number 1 cleft'), +('1453','Rhizomelic shortness with clavicular defect'), +('1453','Wallis-Zieff-Goldblatt syndrome'), +('1440','Ring 14'), +('1440','Ring chromosome 14'), +('141234','Midline facial cleft'), +('141234','Tessier number 0-14 and 30 facial cleft'), +('1443','Ring 19'), +('1443','Ring chromosome 19'), +('141229','Craniofacial cleft'), +('1458','Cerebrooculodentoauriculoskeletal syndrome'), +('141253','Orbitofacial cleft'), +('1454','COACH syndrome'), +('1454','Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis'), +('1454','Gentile syndrome'), +('1454','JS-H'), +('1454','Joubert syndrome with congenital hepatic fibrosis'), +('190','Congenital retinal telangiectasia'), +('190','Leber miliary aneurysm'), +('141199','CAMS3'), +('1429','BHC'), +('1429','Benign familial chorea'), +('141194','CAMS1'), +('141189','CAMS'), +('1426','HEM dysplasia'), +('1426','Hydrops-ectopic calcification-motheaten syndrome'), +('1426','Skeletal dysplasia, Greenberg type'), +('141184','RICH'), +('1427','OSMED'), +('1435','Ayazi syndrome'), +('1435','Del(X)(q21)'), +('1435','Monosomy Xq21'), +('1436','Christian syndrome'), +('141214','Isolated congenital maxillomandibular fusion'), +('141209','Diffuse lymphangioma'), +('141209','Diffuse lymphangiomatosis'), +('141209','Disseminated lymphangioma'), +('141209','Disseminated lymphangiomatosis'), +('141209','Disseminated lymphatic malformation'), +('141209','GLA'), +('141209','Generalized lymphatic anomaly'), +('1433','Moloney syndrome'), +('1433','Regional choroidal atrophy and alopecia'), +('1484','Ladda-Zonana-Ramer syndrome'), +('141333','Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome'), +('1490','CDPD'), +('1490','Corneal dystrophy with progressive deafness'), +('1490','Corneal dystrophy with progressive hearing loss'), +('1490','Corneal dystrophy-perceptive hearing loss syndrome'), +('1490','Harboyan syndrome'), +('1487','Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome'), +('1487','ODP'), +('155867','Tessier number 1-1 and 2-12 facial cleft'), +('1486','Herva disease'), +('1486','LCCS1'), +('1486','Multiple contracture syndrome, Finnish type'), +('141276','Commissural facial cleft'), +('141276','Macrostomia'), +('141276','Transverse facial cleft'), +('1466','Cerebrooculofacioskeletal syndrome'), +('1466','Pena-Shokeir syndrome type 2'), +('141327','Moran-Barroso syndrome'), +('141327','OFD12'), +('141327','Oral-facial-digital syndrome type 12'), +('141330','Degner syndrome'), +('141330','OFD13'), +('141330','Oral-facial-digital syndrome type 13'), +('1471','Sorsby syndrome'), +('141091','Double nose'), +('141091','Polyrhinia'), +('1408','Calderón-González-Cantu syndrome'), +('1409','Salamon syndrome'), +('1409','Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome'), +('141083','Dacryocele'), +('141083','Dacryocystocele'), +('141083','Nasolacrimal mucocele'), +('1410','Pili trianguli et canaliculi'), +('141099','Congenital tubular nose'), +('141096','Accessory nostril'), +('141107','Teratoma of the nasopharynx'), +('141103','Nasal dermoid sinus cyst'), +('1416','Calcium pyrophosphate dihydrate crystal deposition disease'), +('1416','Familial CC'), +('1416','Familial CPPD'), +('1416','Familial articular chondrocalcinosis'), +('1416','Hereditary CC'), +('1416','Hereditary articular chondrocalcinosis'), +('1416','Hereditary calcium pyrophosphate deposition'), +('141112','Nasal glioma'), +('1394','Pascual-Castroviejo syndrome type 1'), +('141051','Dermoid cyst of the face'), +('141071','Enteric duplication cyst of the tongue'), +('141071','Foregut duplication cyst of the tongue'), +('141071','Gastric duplication cyst of the tongue'), +('1398','Near total absence of cerebellum'), +('1398','Subtotal absence of cerebellum'), +('1399','Ketoaciduria-intellectual disability-ataxia-deafness syndrome'), +('1399','Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome'), +('141077','Oropharyngeal teratoma'), +('1401','Baughman syndrome'), +('1401','CHANDS'), +('1401','Curly hair-ankyloblepharon-nail dysplasia syndrome'), +('141074','External auditory canal stenosis/atresia'), +('141163','Cosack syndrome'), +('141171','Arteriovenous malformation of maxilla'), +('1425','DBQD'), +('1425','Desbuquois dysplasia'), +('141174','Arteriovenous malformation of mandible'), +('141179','NICH'), +('1420','Moerman-Vandenberghe-Fryns syndrome'), +('141132','OAV spectrum'), +('141132','Oculoauriculovertebral spectrum'), +('141136','First branchial arch syndrome'), +('141136','Hemifacial microsomia'), +('141136','Laterofacial microsomia'), +('141136','Otomandibular dysostosis'), +('141145','Hemifacial hypertrophy'), +('156728','SEMD, MATN3-related'), +('156728','SEMD, matrilin-3 type'), +('1375','CAHMR syndrome'), +('156723','Short ribs-craniosynostosis-polysyndactyly syndrome'), +('163','Bonneau-Beaumont syndrome'), +('163','HHCS'), +('163','Hereditary hyperferritinemia with congenital cataracts'), +('1373','Wellesley-Carman-French syndrome'), +('1368','Cataract-ataxia-hearing loss syndrome'), +('1366','Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia'), +('1366','Cataract-alopecia-sclerodactyly syndrome'), +('1366','PPK-CA, Wallis type'), +('1366','Palmoplantar keratoderma and congenital alopecia, Wallis type'), +('157826','Congenital gingival cell tumor'), +('157826','Congenital granular cell tumor'), +('157826','Neumann tumor'), +('157808','Congenital pseudarthrosis of the limbs'), +('1390','Hunter-Thompson-Reed syndrome'), +('157820','CISS'), +('157798','Serrated polyposis'), +('1388','Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome'), +('1388','Index finger anomaly-Pierre Robin syndrome'), +('1388','Micrognathia digital syndrome'), +('1388','Palatodigital syndrome, Catel-Manzke type'), +('1388','Pierre Robin sequence-hyperphalangy-clinodactyly syndrome'), +('1388','Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome'), +('157801','MSSD'), +('157801','Syndactyly type 9'), +('157801','Syndactyly, Malik-Percin type'), +('1387','Martsolf syndrome'), +('157794','HMPS'), +('157769','Incomplete situs inversus'), +('157769','Partial situs inversus'), +('157769','Situs ambiguous'), +('157788','Hypospadias-hypertelorism-coloboma and hearing loss syndrome'), +('1381','Karandikar-Maria-Kamble syndrome'), +('1380','Crome syndrome'), +('157215','HHRH'), +('1325','Familial streblodactyly with amino-aciduria'), +('156159','Pure dystonia'), +('1328','Progressive diaphyseal dysplasia'), +('1321','Goodman camptodactyly'), +('1323','Rozin-Hertz-Goodman syndrome'), +('1323','Rozin-camptodactyly syndrome'), +('156152','AAV'), +('156152','ANCA-associated vasculitis'), +('156152','Antineutrophil cytoplasmic antibody-associated vasculitis'), +('1314','Bilateral symmetrical thalamic gliosis'), +('1317','CAMAK syndrome'), +('1317','Cataract-microcephaly-arthrogryposis-kyphosis syndrome'), +('1317','Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome'), +('155889','Inferior palpebral coloboma'), +('1305','Brunner-Winter syndrome'), +('1305','Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum'), +('1305','FGLDS'), +('1305','FS'), +('1305','MMT'), +('1305','MODED syndrome'), +('1305','Microcephaly-digital anomalies-normal intelligence syndrome'), +('1305','Microcephaly-intellectual disability-tracheoesophageal fistula syndrome'), +('1305','Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome'), +('1305','ODED syndrome'), +('1305','Oculo-digito-esophageal-duodenal syndrome'), +('1307','10q24 microduplication syndrome'), +('1307','Buttiens-Fryns syndrome'), +('155884','Superior palpebral coloboma'), +('155899','Bilateral and symmetric oto-mandibular dysplasia'), +('1350','Atriodigital dysplasia type 2'), +('1350','Tabatznik syndrome'), +('1355','Sonoda syndrome'), +('1352','Houlston-Ironton-Temple syndrome'), +('1342','Atriodigital dysplasia type 3'), +('1342','Cardiomelic syndrome type 3'), +('1342','Heart-hand syndrome, Spanish type'), +('1342','Heart-limb syndrome type 3'), +('1345','Krasnow-Qazi syndrome'), +('1338','Ostravik-Lindemann-Solberg syndrome'), +('1340','CFC syndrome'), +('1339','Grosse syndrome'), +('156168','Retinal ciliopathy due to mutation in RP1 gene'), +('2856','PMDS'), +('2856','Persistent Müllerian derivatives'), +('1335','Cantrell deformity'), +('1335','Cantrell syndrome'), +('1335','Thoraco-abdominal syndrome'), +('1680','Little syndrome'), +('1678','Facial dysmorphism-ambiguous genitalia-hypopituitarism-short limbs syndrome'), +('1757','Leg duplication-mirror foot syndrome'), +('1756','Dipygus'), +('1756','Split notochord syndrome'), +('1766','CAMRQ syndrome'), +('1766','Cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome'), +('1766','Non-progressive cerebellar ataxia-intellectual disability syndrome'), +('1766','UTS'), +('1766','Uner Tan syndrome'), +('1777','Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome'), +('1777','Temtamy-Shalash syndrome'), +('1780','Dysmorphism-multiple structural anomalies syndrome'), +('1772','45,X/46,XY MGD'), +('1772','45,X0/46,XY MGD'), +('1772','45,X0/46,XY mixed gonadal dysgenesis'), +('1784','Richieri-Costa-Colletto syndrome'), +('1786','Opitz-Caltabiano syndrome'), +('859','Inherited deficiency of transcobalamin'), +('859','Transcobalamin II deficiency'), +('139441','H-ABC'), +('3196','Lyngstadaas syndrome'), +('1573','HJMD'), +('1573','Hypotrichosis with juvenile macular dystrophy'), +('726','Alpers progressive sclerosing poliodystrophy'), +('726','Alpers syndrome'), +('726','Progressive neuronal degeneration of childhood with liver disease'), +('139450','Balikova-Vermeesch syndrome'), +('139455','Retinopathy, Burgess-Black type'), +('1574','Mackay-Shek-Carr syndrome'), +('139466','Sex reversion-kidneys, adrenal and lung dysgenesis syndrome'), +('1596','15q26 deletion syndrome'), +('1596','Distal 15q deletion syndrome'), +('1596','Monosomy 15q26'), +('1596','Telomeric 15q deletion syndrome'), +('139471','Bakrania-Ragge syndrome'), +('139471','MCOPS6'), +('139471','Syndromic microphthalmia type 6'), +('139474','Dup(17)(q11.2)'), +('139474','Grisart-Destrée syndrome'), +('139474','Trisomy 17q11.2'), +('1617','Del(2)(q24)'), +('1617','Monosomy 2q24'), +('1606','Del(1)(p36)'), +('1606','Deletion 1p36'), +('1606','Deletion 1pter'), +('1606','Monosomy 1p36'), +('1606','Monosomy 1pter'), +('1606','Subtelomeric 1p36 deletion'), +('139480','SPG39'), +('139480','Spastic paraplegia due to NTE mutation'), +('139480','Spastic paraplegia due to neuropathy target esterase mutation'), +('1647','Delleman syndrome'), +('1647','Delleman-Oorthuys syndrome'), +('1647','Leichtman-Wood-Rohn syndrome'), +('1647','OCCS'), +('1647','Orbital cyst with cerebral and focal dermal malformations'), +('139485','ARCA2'), +('139485','Autosomal recessive ataxia due to coenzyme Q10 deficiency'), +('139485','Autosomal recessive cerebellar ataxia type 2'), +('139485','Autosomal recessive spinocerebellar ataxia type 9'), +('139485','SCAR9'), +('139491','Autosomal dominant hereditary hemochromatosis'), +('139491','Ferroportin disease'), +('139491','Hemochromatosis due to defect in ferroportin'), +('139498','C282Y/C282Y hemochromatosis'), +('139498','Classic hemochromatosis'), +('139498','HFE-related hemochromatosis'), +('1653','DD'), +('139507','Bantu siderosis'), +('139515','CMT4J'), +('139525','Distal spinal muscular atrophy type 2'), +('139525','dHMN2'), +('139525','dSMA2'), +('1658','Absence of dermatoglyphics-congenital milia syndrome'), +('1658','Baird syndrome'), +('1658','Basan-Baird syndrome'), +('139518','Autosomal dominant distal juvenile spinal muscular atrophy type 1'), +('139518','dHMN1'), +('1659','Cutis laxa-leukodystrophy'), +('139547','Autosomal recessive distal spinal muscular atrophy type 3'), +('139547','Distal hereditary motor neuropathy type 3 and type 4'), +('139547','dHMN3 and dHMN4'), +('139547','dSMA3'), +('139536','Distal HMN V'), +('139536','Distal hereditary motor neuropathy type V'), +('139536','Distal spinal muscular atrophy type 5'), +('139536','dHMN5'), +('139557','ATP7A-related distal motor neuropathy'), +('139557','DSMAX'), +('139557','SMAX3'), +('139557','X-linked dHMN3'), +('139557','X-linked dSMA3'), +('139557','X-linked distal hereditary motor neuropathy type 3'), +('1661','Corneal dystrophy epithelial-short stature syndrome'), +('1661','Guízar Vázquez-Luengas-Muñoz syndrome'), +('1662','Lethal hyperkeratosis-contracture syndrome'), +('1662','Lethal restrictive dermopathy'), +('1662','Lethal tight skin-contracture syndrome'), +('139552','Autosomal recessive distal spinal muscular atrophy type 2'), +('139552','dHMNJ'), +('139573','HSAN with deafness and global delay'), +('139573','HSAN with hearing loss and global delay'), +('139573','Hereditary sensory and autonomic neuropathy with hearing loss and global delay'), +('139564','HSAN with cough and gastroesophageal reflux'), +('139564','HSAN1B'), +('139564','Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux'), +('139564','Hereditary sensory and autonomic neuropathy type IB'), +('139583','X-linked HSAN with deafness'), +('139583','X-linked HSAN with hearing loss'), +('139583','X-linked auditory neuropathy with peripheral sensory neuropathy type 1'), +('139583','X-linked hereditary sensory and autonomic neuropathy with hearing loss'), +('1667','Early-onset diabetes mellitus with multiple epiphyseal dysplasia'), +('1667','WRS'), +('139578','Mutilating HSAN with spastic paraplegia'), +('139589','Distal spinal muscular atrophy with vocal cord paralysis'), +('139589','dHMN7'), +('1671','SCM type 1'), +('1671','SCM type I'), +('1671','Split cord malformation type 1'), +('1674','DRC syndrome'), +('1674','Eronen-Somer-Gustafsson syndrome'), +('140917','Teunissen-Cremers syndrome'), +('1548','Van Benthem-Driessen-Hanveld syndrome'), +('1547','Cryptomicrotia-brachydactyly syndrome'), +('1547','Tonoki-Ohura-Niikawa syndrome'), +('140922','Autosomal recessive limb-girdle muscular dystrophy type 2J'), +('140922','LGMD type 2J'), +('140922','LGMD2J'), +('140922','Limb-girdle muscular dystrophy type 2J'), +('140922','Titin-related LGMD R10'), +('140905','Hyperlipidemia due to HL deficiency'), +('140905','Hyperlipidemia due to HTGL deficiency'), +('140905','Hyperlipidemia due to hepatic lipase deficiency'), +('140905','Hyperlipidemia due to hepatic triglyceride lipase deficiency'), +('1540','Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome'), +('1540','JWS'), +('1535','Glass-Chapman-Hockley syndrome'), +('1533','Lowry syndrome'), +('140874','JSRD'), +('140896','SARS'), +('140896','SARS-1'), +('1532','Cerebellotrigeminal-dermal dysplasia syndrome'), +('1532','Craniosynostosis-alopecia-brain defect syndrome'), +('140952','STAR syndrome'), +('140944','Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome'), +('140944','Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome'), +('1555','Beare-Stevenson cutis gyrata syndrome'), +('140936','Ectodermal dysplasia-acanthosis nigricans syndrome'), +('1553','Corpus callosum agenesis-polysyndactyly syndrome'), +('140927','BFNIS'), +('140927','Benign neonatal-infantile epilepsy'), +('140989','Isolated angiitis of the central nervous system'), +('140989','PACNS'), +('140989','PCNSV'), +('140989','Primary central nervous system vasculitis'), +('140989','Primary vasculitis of the central nervous system'), +('1566','DWM with postaxial polydactyly'), +('1566','Pierquin syndrome'), +('140976','Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome'), +('1563','Dahlberg syndrome'), +('1563','Lymphedema-hypoparathyroidism syndrome'), +('140969','Conorenal syndrome'), +('140969','Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome'), +('140966','PPK, Nagashima type'), +('140966','Palmoplantar hyperkeratosis, Nagashima type'), +('1562','Gunal-Seber-Basaran syndrome'), +('140963','Bilateral microtia-hearing loss-cleft palate syndrome'), +('1557','McDowall syndrome'), +('141046','Dermoid cyst of the neck'), +('382','GAMT deficiency'), +('742','Hyperimidodipeptiduria'), +('141037','Fourth branchial cleft cyst'), +('141037','Fourth branchial cleft fistula'), +('141030','Third branchial cleft cyst'), +('141030','Third branchial cleft fistula'), +('141022','Second branchial cleft cyst'), +('141022','Second branchial cleft fistula'), +('1979','Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency'), +('1979','Hoepffner-Dreyer-Reimers syndrome'), +('1979','Werner-like syndrome due to combined growth factor deficiency'), +('141013','First branchial cleft cyst'), +('141013','First branchial cleft fistula'), +('1571','Knobloch-Layer syndrome'), +('1571','Retinal detachment-occipital encephalocele syndrome'), +('141007','OFD9'), +('141007','Oral-facial-digital syndrome type 9'), +('141007','Oral-facial-digital syndrome with retinal abnormalities'), +('141007','Orofaciodigital syndrome with retinal abnormalities'), +('1551','Familial benign hypocupremia'), +('141000','OFD11'), +('141000','Oral-facial-digital syndrome type 11'), +('141000','Oral-facial-digital syndrome, Gabrielli type'), +('141000','Orofaciodigital syndrome, Gabrielli type'), +('140997','OFD'), +('140997','Oral-facial-digital syndrome'), +('1569','Xeroderma pigmentosum with neurologic manifestation'), +('140436','Intraosseous hemangioma'), +('140436','Osseous venous malformation'), +('140450','HMSN'), +('1493','Corpus callosum agenesis-cataract-immunodeficiency syndrome'), +('1493','Dionisi-Vici-Sabetta-Gambarara syndrome'), +('1495','Da Silva syndrome'), +('140468','Autosomal recessive dHMN'), +('140468','Autosomal recessive dSMA'), +('140468','Autosomal recessive distal spinal muscular atrophy'), +('1509','Ischiopatellar dysplasia'), +('1509','SPS'), +('1509','Scott-Taor syndrome'), +('1509','Small patella syndrome'), +('140471','HSAN'), +('1506','Sharma-Kapoor-Ramji syndrome'), +('140465','Autosomal dominant dHMN'), +('140465','Autosomal dominant distal spinal muscular atrophy'), +('1507','COVESDEM syndrome'), +('1507','Costovertebral segmentation defect-mesomelia syndrome'), +('1507','RRS'), +('1519','Brachycephalofrontonasal dysplasia'), +('1519','Craniofrontonasal dysplasia, Teebi type'), +('1519','Teebi hypertelorism syndrome'), +('1519','Teebi syndrome'), +('1520','CFND'), +('1520','CFNS'), +('1520','Craniofrontonasal syndrome'), +('1514','Scott craniodigital syndrome'), +('1514','Scott-Bryant-Graham syndrome'), +('1515','CED'), +('1515','Sensenbrenner syndrome'), +('1516','BLSS'), +('1516','Bilateral lambdoid and sagittal synostosis'), +('1526','Acro-cephalo-synostosis'), +('1526','Allain-Babin-Demarquez syndrome'), +('1529','CDHS'), +('1529','Craniofacial-hearing loss-hand syndrome'), +('1529','Sommer-Young-Wee-Frye syndrome'), +('1521','Webster-Deming syndrome'), +('1525','Currarino disease'), +('1525','Currarino idiopathic osteoarthropathy'), +('1525','Reginato-Schiapachasse syndrome'), +('1969','FACES syndrome'), +('1969','Friedman-Goodman syndrome'), +('1968','Blepharophimosis-telecanthus-microstomia syndrome'), +('1968','Simosa craniofacial syndrome'), +('1968','Simosa-Penchaszadeh-Bustos syndrome'), +('1973','Eastman-Bixler syndrome'), +('1974','Aarskog-like syndrome'), +('1974','Facio-digito-genital syndrome, Kuwait type'), +('1974','Teebi-Naguib-Alawadi syndrome'), +('1964','Char-Douglas-Dungan syndrome'), +('1822','Trevor disease'), +('1824','Epiphyseal dysplasia-microcephaly-nystagmus syndrome'), +('1952','Epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome'), +('1955','Erythrokeratodermia with ataxia'), +('1955','SCA34'), +('1955','Spinocerebellar ataxia and erythrokeratodermia'), +('2209','Hyperphenylalaninemic embryopathy'), +('2209','Maternal PKU'), +('2209','Maternal hyperphenylalaninemia'), +('2209','Phenylketonuric embryopathy'), +('1927','Hand and foot deformity-flat facies syndrome'), +('1937','Short stature-locking fingers syndrome'), +('1917','Methyl mercury antenatal infection'), +('1917','Minamata disease'), +('1923','MMI/CMZ embryofetopathy'), +('1923','MMI/CMZ embryopathy'), +('1923','Methimazole/carbimazole embryofetopathy'), +('1923','Methimazole/carbimazole embryopathy'), +('1912','Fetal dihydantoin syndrome'), +('1912','Phenytoin embryofetopathy'), +('1918','Minoxidil antenatal infection'), +('1911','Fetal cocaine syndrome'), +('1916','DES embryofetopathy'), +('1916','DES syndrome'), +('1916','Diethylstilbestrol embryofetopathy'), +('1916','Distilbene embryofetopathy'), +('294','Antenatal CMV infection'), +('294','Antenatal cytomegalovirus infection'), +('294','Mother-to-child transmission of cytomegalovirus syndrome'), +('1914','Vitamin K antagonist embryopathy'), +('1914','Warfarin embryofetopathy'), +('1914','Warfarin embryopathy'), +('1914','di Sala syndrome'), +('1896','Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome'), +('1897','Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome'), +('1908','Aminopterin embryopathy syndrome'), +('1908','Fetal aminopterin syndrome'), +('1909','Fetal indomethacin syndrome'), +('1906','Fetal valproic acid syndrome'), +('1906','Valproic acid embryopathy'), +('1888','EEC syndrome without cleft lip/palate'), +('1889','ECP syndrome'), +('1895','Typus Edinburgensis'), +('1891','Jancar syndrome'), +('1816','Berlin syndrome'), +('1816','Ectodermal dysplasia, Berlin type'), +('1807','FFDD type III'), +('1807','FFDD3'), +('1807','Focal facial dermal dysplasia 3, Setleis type'), +('1807','Setleis syndrome'), +('1883','Ectodermal dysplasia-sensorineural hearing loss syndrome'), +('1882','ANOTHER syndrome'), +('1882','HEDH syndrome'), +('1875','Bassoe syndrome'), +('1873','Cone rod dystrophy-amelogenesis imperfecta syndrome'), +('1879','MSBD syndrome'), +('1879','Mixed sclerosing bone dystrophy'), +('1871','Cone dystrophy'), +('1860','TD1'), +('1860','Thanatophoric dwarfism type 1'), +('1858','Gurrieri-Sammito-Bellussi syndrome'), +('1850','Selig-Benacerraf-Greene syndrome'), +('1842','Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type'), +('1839','Urban-Schosser-Spohn syndrome'), +('1838','Cartilage-hair hypoplasia-like-skeletal dysplasia without hypotrichosis syndrome'), +('1837','Rosenberg-Lohr syndrome'), +('1836','Kantaputra mesomelic dysplasia'), +('1836','MDK'), +('1836','Mesomelic dysplasia, Thai type'), +('1834','Blastogenesis defect'), +('1834','Russell-Weaver-Bull syndrome'), +('1831','De Hauwere-Chitty syndrome'), +('1831','Iris dysplasia-hypertelorism-deafness syndrome'), +('1831','Iris dysplasia-hypertelorism-hearing loss syndrome'), +('1830','Schimke syndrome'), +('1830','Spondyloepiphyseal dysplasia-nephrotic syndrome'), +('1825','Epiphyseal dysplasia-deafness-dysmorphism syndrome'), +('1825','Finucane-Kurtz-Scott syndrome'), +('251','EDM'), +('251','MED'), +('251','Polyepiphyseal dysplasia'), +('1808','Christianson-Fourie syndrome'), +('1809','Halal-Setton-Wang syndrome'), +('1809','Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome'), +('1802','Diaphyseal dysplasia-anemia syndrome'), +('1802','Ghosal syndrome'), +('1803','Rivera-Perez-Salas syndrome'), +('1803','Thoracolimb dysplasia, Rivera type'), +('1800','Bazopoulou-Kyrkanidou syndrome'), +('1798','Autosomal dominant osteosclerosis, Stanescu type'), +('1798','Craniofacial dysostosis-diaphyseal hyperplasia syndrome'), +('1798','Stanescu osteosclerosis'), +('1799','Billard-Toutain-Maheut syndrome'), +('1799','FOXP2-associated dysphasia'), +('1794','Richieri-Costa-Gorlin syndrome'), +('2128','Hemi 3 syndrome'), +('2128','Hemicorporal hypertrophy'), +('2128','Isolated hemihypertrophy'), +('2129','HIPO syndrome'), +('2130','Longitudinal meromelia'), +('2136','Lymphedema-lymphangiectasia-intellectual disability syndrome'), +('2138','46,XX ovotesticular DSD'), +('2139','Intellectual disability-epilepsy-bulbous nose syndrome'), +('2141','Froster-Huch syndrome'), +('2143','DBS/FOAR syndrome'), +('2143','Diaphragmatic hernia-exomphalos-hypertelorism syndrome'), +('2143','Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome'), +('2143','Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome'), +('2143','FOAR syndrome'), +('2143','Facio-oculo-acoustico-renal syndrome'), +('2143','Holmes-Schepens syndrome'), +('2143','Syndrome of ocular and facial anomalies, telecanthus and deafness'), +('2143','Syndrome of ocular and facial anomalies, telecanthus and hearing loss'), +('2148','X-linked lissencephaly type 1'), +('158048','IAHS'), +('158048','VAHS'), +('158048','Virus-associated hemophagocytic syndrome'), +('2108','François dyscephalic syndrome'), +('2108','Oculomandibulofacial syndrome'), +('2110','Kleiner-Holmes syndrome'), +('2109','Dennis-Fairhurst-Moore syndrome'), +('2109','Hallermann-Streiff-François syndrome, severe form'), +('2109','Severe Hallermann-Streiff-François syndrome'), +('2111','Graham-Boyle-Troxell syndrome'), +('158266','Huntington disease phenocopy syndrome'), +('2115','Cranio-facio-digito-genital syndrome'), +('2114','BFHD'), +('2114','Beukes familial hip dysplasia'), +('2114','Cilliers-Beighton syndrome'), +('2114','Premature degenerative osteoarthropathy of the hip'), +('2994','Haspeslagh-Fryns-Muelenaere syndrome'), +('2117','Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome'), +('2119','Hydrocephalus-endocardial fibroelastosis-cataract syndrome'), +('2090','Goniodysgenesis-intellectual disability-short stature syndrome'), +('157991','Generalized eruptive histiocytoma'), +('2091','Daneman-Davy-Mancer syndrome'), +('2091','Thyroid-renal-digital anomalies'), +('376','Camptodactyly-cleft palate-clubfoot syndrome'), +('376','Distal arthrogryposis type 3'), +('376','Distal arthrogryposis type IIA'), +('158003','Montgomery syndrome'), +('2092','Goltz syndrome'), +('2092','Goltz-Gorlin syndrome'), +('2098','Chondrodysplasia, Grebe type'), +('380','GCPS'), +('2095','Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome'), +('2095','Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome'), +('2095','Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome'), +('2095','GCM syndrome'), +('158019','Indeterminate dendritic cell neoplasm'), +('158019','Indeterminate dendritic cell tumor'), +('158014','Destombes-Rosaï-Dorfman disease'), +('158014','Rosaï-Dorfman-Destombes disease'), +('158014','SHML'), +('158014','Sinus histiocytosis with massive lymphadenopathy'), +('158041','Acquired hemophagocytic lymphohistiocytosis'), +('158041','Reactive hemophagocytic syndrome'), +('2101','Developmental delay-hypotonia-extremities hypertrophy syndrome'), +('158038','Genetic hemophagocytic lymphohistiocytosis'), +('2104','Guízar Vázquez-Sánchez-Manzano syndrome'), +('158032','HLH'), +('158032','Hemophagocytic lymphohistiocytosis'), +('2099','Craniofacial and osseous defects-intellectual disability syndrome'), +('157846','Adult basal ganglia disease'), +('157846','Ferritin-related neurodegeneration'), +('157846','Hereditary ferritinopathy'), +('2067','Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome'), +('2065','Galloway syndrome'), +('2065','Microcephaly-hiatus hernia-nephrotic syndrome'), +('2065','Nephrosis-neuronal dysmigration syndrome'), +('2075','Gardner-Silengo-Wachtel syndrome'), +('157941','Early-onset prion disease with prominent psychiatric features'), +('157941','HDL1'), +('2074','Spinocerebellar ataxia-amyotrophy-deafness syndrome'), +('2074','Spinocerebellar ataxia-amyotrophy-hearing loss syndrome'), +('157850','Hallervorden-Spatz syndrome'), +('157850','NBIA1'), +('157850','Neurodegeneration with brain iron accumulation type 1'), +('157850','PKAN'), +('2072','Cardiovascular Gaucher disease'), +('2072','Gaucher disease type 3C'), +('2072','Gaucher-like disease'), +('157855','Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome'), +('157954','Alopecia-progressive neurological defect-endocrinopathy syndrome'), +('157946','HDL3'), +('157949','CID due to RAG 1/2 deficiency'), +('157949','Combined immunodeficiency due to RAG 1/2 deficiency'), +('2077','Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome'), +('157973','L-CMD'), +('157973','LMNA-related congenital muscular dystrophy'), +('2084','GEMSS syndrome'), +('157965','SCD-EDS'), +('157965','SLC39A13-related spEDS'), +('157965','SLC39A13-related spondylodysplastic EDS'), +('157965','Spondylocheirodysplastic Ehlers-Danlos syndrome'), +('157965','spEDS-SLC39A13'), +('2083','MacDermot-Winter syndrome'), +('2081','Cramer-Niederdellmann syndrome'), +('2055','Frias syndrome'), +('1791','Gollop syndrome'), +('2048','Bilateral anterior opercular syndrome'), +('2048','Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation'), +('2048','Facio-pharyngo-glosso-masticatory diplegia'), +('2050','Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome'), +('2063','SGFLD syndrome'), +('2064','Faulk-Epstein-Jones syndrome'), +('250','Median cleft face syndrome'), +('2057','Frydman-Cohen-Karmon syndrome'), +('2059','Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome'), +('2026','CGHT'), +('2026','Congenital generalized hypertrichosis terminalis'), +('2026','Hirsutism-congenital gingival hyperplasia syndrome'), +('2026','Hypertrichosis with or without gingival hyperplasia'), +('2028','Murray-Puretic-Drescher syndrome'), +('2028','Puretic syndrome'), +('2027','Gingival fibromatosis-progressive hearing loss syndrome'), +('2027','Jones syndrome'), +('2019','FFU complex'), +('2019','Femur-fibula-ulna dysostosis'), +('2019','Femur-fibula-ulna syndrome'), +('2019','PFFD'), +('2024','Autosomal dominant gingival fibromatosis'), +('2024','Autosomal dominant gingival hyperplasia'), +('2024','Hereditary gingival hyperplasia'), +('2022','Endomyocardial fibroelastosis'), +('2824','Fitzsimmons-McLachlan-Gilbert syndrome'), +('2045','Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome'), +('2031','Thompson-Baraitser syndrome'), +('2029','Jaffe-Campanacci syndrome'), +('2036','Finlay-Marks syndrome'), +('2006','Median cleft lower facial stage'), +('2003','Cleft lip/palate-hearing loss-sacral lipoma syndrome'), +('2003','Lowry-Yong syndrome'), +('158687','LAEB'), +('158684','EBS-PA'), +('2004','LC'), +('2004','LTEC'), +('2004','Laryngo-tracheo-esophageal cleft'), +('2004','Laryngo-tracheo-esophageal diastema'), +('2001','McPherson-Clemens syndrome'), +('158681','EBS-migr'), +('158676','Nails-only DDEB'), +('158668','Ectodermal dysplasia-skin fragility syndrome'), +('158668','McGrath syndrome'), +('2016','CPLS syndrome'), +('2017','Cleft sternum'), +('2017','Sternum bifidum'), +('2013','Say-Barber-Hobbs syndrome'), +('2008','ACFS'), +('2008','CCGE syndrome'), +('2008','Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome'), +('1987','Congenital short femur'), +('1987','Femoral intercalary meromelia'), +('1986','Bifid femur-monodactylous ectrodactyly syndrome'), +('1984','Alport syndrome with leukocyte inclusions and macrothrombocytopenia'), +('1980','BSPDC'), +('1980','Cerebrovascular ferrocalcinosis'), +('1980','Idiopathic basal ganglia calcification'), +('1980','PFBC'), +('1980','Primary familial brain calcification'), +('1997','BCD syndrome'), +('1997','Blepharocheilodontic syndrome'), +('1997','Clefting-ectropion-conical teeth syndrome'), +('1997','Ectropion inferior-cleft lip and/or palate syndrome'), +('1997','Elschnig syndrome'), +('1997','Lagophthalmia-cleft lip and palate syndrome'), +('1995','Ausems-Wittebol Post-Hennekam syndrome'), +('1995','Cleft lip-cone rod dystrophy syndrome'), +('1995','Cleft lip-progressive retinopathy syndrome'), +('1993','Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome'), +('1988','FFS'), +('1988','FHUFS'), +('1988','Femoral hypoplasia-unusual facies syndrome'), +('2348','Dunnigan syndrome'), +('2348','FPLD2'), +('2348','Familial partial lipodystrophy type 2'), +('247775','Congenital absence of uterus and vagina'), +('247775','MRKH syndrome type 1'), +('247775','Rokitansky sequence'), +('2351','Sacral meningocele-conotruncal heart defects syndrome'), +('247768','Müllerian duct failure and hyperandrogenism'), +('247768','WNT4 deficiency'), +('2353','BRSS'), +('2353','Hypotelorism-cleft palate-hypospadias syndrome'), +('247790','FTH1-associated iron overload'), +('247798','MUTYH-related AFAP'), +('247798','MUTYH-related attenuated FAP'), +('247798','MUTYH-related attenuated familial polyposis coli'), +('2355','Nail dysplasia-camptodactyly-brachydactyly type B syndrome'), +('247794','Juvenile cataract-microcornea-renal glycosuria syndrome'), +('247815','Mild peroxismal disorder due to PEX10 deficiency'), +('247806','APC-related AFAP'), +('247806','APC-related attenuated FAP'), +('247806','APC-related attenuated familial polyposis coli'), +('2363','LADD syndrome'), +('2363','LARD syndrome'), +('2363','Lacrimoauriculoradiodental syndrome'), +('2363','Levy-Hollister syndrome'), +('247691','RVCL'), +('247691','RVCL-S'), +('247691','Retinal vasculopathy and cerebral leukoencephalopathy'), +('2342','Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome'), +('2342','Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome'), +('2342','Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome'), +('247709','MEN2B'), +('247709','Multiple endocrine neoplasia type 3'), +('247709','Wagenmann-Froboese syndrome'), +('247698','MEN2A'), +('247698','PTC syndrome'), +('247698','Sipple syndrome'), +('247724','Idiopathic eosinophilia-associated myopathy'), +('247718','IMAM'), +('247585','Adult-onset citrin deficiency'), +('247585','Adult-onset citrullinemia type 2'), +('247585','Adult-onset citrullinemia type II'), +('247585','CTLN2'), +('247585','Citrullinemia type 2'), +('2333','Kenny syndrome'), +('247598','NICCD'), +('247598','Neonatal intrahepatic cholestasis caused by citrin deficiency'), +('2332','Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome'), +('247604','JPLS'), +('247604','Juvenile PLS'), +('247623','Perinatal lethal Rathbun disease'), +('247623','Perinatal lethal phosphoethanolaminuria'), +('247638','Prenatal benign Rathbun disease'), +('247638','Prenatal benign phosphoethanolaminuria'), +('2338','Isolated punctate PPK'), +('2338','Isolated punctate palmoplantar hyperkeratosis'), +('2337','Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type'), +('2337','Diffuse palmoplantar keratoderma, Bothnian type'), +('2337','NEPPK'), +('247651','Infantile Rathbun disease'), +('247651','Infantile phosphoethanolaminuria'), +('247667','Childhood-onset Rathbun disease'), +('247667','Childhood-onset phosphoethanolaminuria'), +('247676','Adult Rathbun disease'), +('247676','Adult phosphoethanolaminuria'), +('494','Mutilating keratoderma of Vohwinkel'), +('494','Mutilating keratoderma plus deafness'), +('494','Mutilating keratoderma plus hearing loss'), +('494','PPK mutilans and deafness'), +('494','PPK mutilans and hearing loss'), +('494','Vohwinkel syndrome'), +('2322','Kabuki make-up syndrome'), +('2322','Niikawa-Kuroki syndrome'), +('247378','Autosomal recessive secondary erythrocytosis not associated with VHL gene'), +('247378','Autosomal recessive secondary erythrocytosis, non-Chuvash type'), +('247378','Autosomal recessive secondary polycythemia, non-Chuvash type'), +('2324','Kaler-Garrity-Stern syndrome'), +('247511','Autosomal dominant secondary erythrocytosis'), +('2323','HRD syndrome'), +('2323','Hypoparathyroidism-intellectual disability-dysmorphism syndrome'), +('2323','Hypoparathyroidism-short stature-intellectual disability-seizures syndrome'), +('2323','Richardson-Kirk syndrome'), +('2323','SSS'), +('247525','ASS deficiency'), +('247525','Argininosuccinate synthase deficiency'), +('247525','Argininosuccinate synthetase deficiency'), +('247525','Argininosuccinic acid synthase deficiency'), +('247525','Argininosuccinic acid synthetase deficiency'), +('247525','CTLN1'), +('247525','Citrullinemia type 1'), +('247525','Classic citrullinemia'), +('247546','Acute neonatal citrullinemia type 1'), +('247546','Classic citrullinemia type 1'), +('247546','Classic citrullinemia type I'), +('2325','Gamborg-Nielsen syndrome'), +('2325','Kallin syndrome'), +('247573','Adult-onset citrullinemia type 1'), +('247573','Late-onset citrullinemia type 1'), +('247573','Late-onset citrullinemia type I'), +('2329','Split hand/split foot-nystagmus syndrome'), +('2328','Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome'), +('2408','Deafness-nephritis-ano-rectal malformation syndrome'), +('2408','Hearing loss-nephritis-ano-rectal malformation syndrome'), +('2405','Escher-Hirt syndrome'), +('2405','Thickened earlobes-conductive hearing loss syndrome'), +('2407','LOGIC syndrome'), +('2407','Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome'), +('2407','Laryngo-onycho-cutaneous syndrome'), +('2407','Shabbir syndrome'), +('2412','Collins-Pope syndrome'), +('2575','Lubani-Al Saleh-Teebi syndrome'), +('2410','Lubinsky syndrome'), +('248326','Rare bleeding disorder due to a platelet anomaly'), +('248326','Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia'), +('248326','Rare coagulopathy due to a platelet anomaly'), +('248326','Rare coagulopathy due to a thrombopathy and/or thrombocytopenia'), +('248326','Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia'), +('248315','Rare bleeding disorder due to a coagulation factors defect'), +('248315','Rare coagulopathy due to a coagulation factor defect'), +('2400','Lisker-Garcia-Ramos syndrome'), +('248308','Rare bleeding disorder'), +('2396','Haberland syndrome'), +('248347','Rare bleeding disorder due to an acquired platelet anomaly'), +('248347','Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia'), +('248347','Rare coagulopathy due to an acquired platelet anomaly'), +('248347','Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia'), +('248347','Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia'), +('248340','Isolated delta-SPD'), +('248340','Isolated dense-SPD'), +('248340','Isolated dense-storage pool disease'), +('2388','ChAc'), +('2388','Chorea-acanthocytosis'), +('2388','Levine-Critchley syndrome'), +('248111','JHD'), +('248111','Juvenile Huntington chorea'), +('248095','Idiopathic hypertrophic osteoarthropathy'), +('248095','PHO'), +('2379','Laxova-Opitz syndrome'), +('2379','Waisman syndrome'), +('2389','Cleft lip/palate-ectrodactyly syndrome'), +('247834','OCMD'), +('247834','OMD'), +('247839','Oligoarticular JIA with anti-nuclear antibodies'), +('247839','Pauciarticular chronic arthritis with anti-nuclear antibodies'), +('2369','Body stalk anomaly'), +('2369','LBWC syndrome'), +('247820','EDSS'), +('247820','EDSS1'), +('247827','EDCS'), +('247827','EDSS2'), +('247861','Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies'), +('247861','Polyarthritis without rheumatoid factor without anti-nuclear antibodies'), +('247861','Rheumatoid factor-negative JIA without anti-nuclear antibodies'), +('2378','Mirror hands and feets-nasal defects syndrome'), +('2378','Sandrow syndrome'), +('247868','FCAS2'), +('247868','Familial cold autoinflammatory syndrome type 2'), +('247868','NAPS12'), +('247846','Oligoarticular JIA without anti-nuclear antibodies'), +('247846','Pauciarticular chronic arthritis without anti-nuclear antibodies'), +('2375','Plott syndrome'), +('247854','Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies'), +('247854','Polyarthritis without rheumatoid factor with anti-nuclear antibodies'), +('247854','Rheumatoid factor-negative JIA with anti-nuclear antibodies'), +('2454','Stalker-Chitayat syndrome'), +('2456','Isolated polythelia'), +('2457','MAD'), +('2451','Cutaneous and mucosal venous malformation'), +('2451','VMCM'), +('2453','3MC3 syndrome'), +('2453','Malpuech facial clefting syndrome'), +('2439','Patterson-Stevenson syndrome'), +('2439','Split foot deformity-mandibulofacial dysostosis syndrome'), +('244283','BASM syndrome'), +('2440','Ectrodactyly'), +('2440','SHFM'), +('2440','Split hand foot malformation'), +('244310','CDG syndrome type In'), +('244310','CDG-In'), +('244310','CDG1N'), +('244310','Carbohydrate deficient glycoprotein syndrome type In'), +('244310','Congenital disorder of glycosylation type 1n'), +('244310','Congenital disorder of glycosylation type In'), +('244310','Man5GlcNAc2-PP-Dol flippase deficiency'), +('244242','Hemolysis, elevated liver enzymes, low platelets in pregnancy'), +('244242','Hemolysis-elevated liver enzymes-low platelets syndrome'), +('296','Dyschondroplasia'), +('2437','Split hand with obstructive uropathy, spina bifida and diaphragmatic defects'), +('2437','Split hand-urinary anomalies-spina bifida syndrome'), +('2438','HFGS'), +('2438','Hand-foot-uterus syndrome'), +('243343','DMG dehydrogenase deficiency'), +('243343','DMGDH deficiency'), +('1019','Alport syndrome with macrothrombocytopenia'), +('243367','AFLP'), +('243377','Insulin-dependent diabetes mellitus'), +('2435','Westerhof-Beemer-Cormane syndrome'), +('2429','Fryns macrocephaly'), +('2432','Teebi-Al Saleh-Hassoon syndrome'), +('247353','GPP'), +('247262','Mabry syndrome'), +('2487','Fried-Goldberg-Mundel syndrome'), +('247257','Inhalation anthrax disease'), +('247257','Pulmonary anthrax'), +('247257','Respiratory anthrax'), +('247257','Respiratory anthrax disease'), +('247245','Hemosiderosis of the central nervous system'), +('247245','Superficial hemosiderosis of the CNS'), +('247245','Superficial hemosiderosis of the central nervous system'), +('247245','Superficial siderosis of the CNS'), +('247245','Superficial siderosis of the central nervous system'), +('247234','Idiopathic late-onset cerebellar ataxia'), +('247234','SAOA'), +('247203','BDC'), +('247203','Bellini carcinoma'), +('247203','Bellini duct carcinoma'), +('247203','CDC'), +('2484','Melnick-Needles osteodysplasty'), +('247198','PCCA'), +('2481','NCM'), +('2481','Neurocutaneous melanosis'), +('247165','Erythroedema polyneuritis'), +('247165','Feer disease'), +('247165','Infantile acrodynia'), +('247165','Infantile mercury intoxication'), +('247165','Pink disease'), +('247165','Swift disease'), +('247165','Swift-Feer disease'), +('2477','Macroencephaly'), +('2479','MMR syndrome'), +('2479','Neuhäuser syndrome'), +('2476','Medeira-Dennis-Donnai syndrome'), +('2474','Intellectual disability-coloboma-slimness syndrome'), +('2473','Hydrometrocolpos-postaxial polydactyly syndrome'), +('2473','Kaufman-Mckusick syndrome'), +('2470','Anophthalmia-pulmonary hypoplasia syndrome'), +('2470','MCOPS9'), +('2470','Syndromic microphthalmia type 9'), +('561','Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome'), +('2462','Marfanoid craniosynostosis syndrome'), +('2462','SGS'), +('251636','Classic ependymoma'), +('251651','Mixed oligodendroglial and astrocytic tumor'), +('2181','Daish-Hardman-Lamont syndrome'), +('251656','MOA'), +('251656','Mixed oligoastrocytoma'), +('2180','Ferlini-Ragno-Calzolari syndrome'), +('2180','Waaler-Aarskog syndrome'), +('251663','aMOA'), +('2186','Daentl-Townsend-Siegel syndrome'), +('312','BCIE'), +('312','Bullous congenital ichthyosiform erythroderma'), +('312','Bullous congenital ichthyosiform erythroderma of Brock'), +('312','Bullous ichthyosis'), +('312','EHK'), +('312','EI'), +('312','Epidermolytic hyperkeratosis'), +('312','Ichthyosis hystrix Brocq type'), +('2196','FHHNC with severe ocular involvement'), +('2196','Hypercalciuria-bilateral macular coloboma syndrome'), +('2196','Meier-Blumberg-Imahorn syndrome'), +('387','Acne inversa'), +('387','Ectopic acne'), +('387','Fox den disease'), +('387','Pyoderma fistulans significa'), +('387','Verneuil disease'), +('2152','Hirschsprung disease-intellectual disability syndrome'), +('2153','Al Gazali-Donnai-Muller syndrome'), +('2155','Hirschsprung disease-hearing loss-polydactyly syndrome'), +('2155','Santos-Mateus-Leal syndrome'), +('2156','Wiedemann-Oldigs-Oppermann syndrome'), +('2163','Camero-Lituania-Cohen syndrome'), +('2163','Genoa syndrome'), +('251607','PXA'), +('251618','SEGA'), +('2166','Pseudo-trisomy 13 syndrome'), +('2167','Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome'), +('2167','Holzgreve-Wagner-Rehder syndrome'), +('2169','Functional methionine synthase deficiency type cblE'), +('251927','EVN'), +('2222','Hypertrichosis universalis'), +('2220','Hairy elbows syndrome'), +('2220','MacDermot-Patton-Williams syndrome'), +('1051','Corneal anesthesia-deafness-intellectual disability syndrome'), +('1051','Corneal anesthesia-hearing loss-intellectual disability syndrome'), +('251940','DIA/DIG'), +('251946','DNET'), +('2228','Hypodontia-nail dysgenesis syndrome'), +('2228','Tooth and nail syndrome'), +('2228','Witkop syndrome'), +('2227','Tooth agenesis'), +('2232','Al Awadi-Farag-Teebi syndrome'), +('251962','PGNT'), +('251962','Pseudopapillary ganglioglioneurocytoma'), +('251962','Pseudopapillary neurocytoma with glial differentiation'), +('251975','RGNT'), +('2230','Salti-Salem syndrome'), +('2229','Cardiogenital syndrome'), +('2229','Malouf syndrome'), +('2229','Najjar syndrome'), +('252006','Endodermal sinus tumor of CNS'), +('252006','Endodermal sinus tumor of central nervous system'), +('252006','Intracranial endodermal sinus tumor'), +('252006','Intracranial yolk sac tumor'), +('252006','Yolk sac tumor of CNS'), +('2237','Barakat syndrome'), +('2237','HDR syndrome'), +('2237','Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome'), +('2235','Chang-Davidson-Carlson syndrome'), +('251995','Primary germ cell tumor of CNS'), +('2234','Sohval-Soffer syndrome'), +('2199','Diffuse erythrodermic palmoplantar keratoderma, Voerner type'), +('2199','Diffuse erythrodermic palmoplantar keratoderma, Vörner type'), +('2199','EPPK'), +('2199','Epidermolytic palmoplantar keratoderma of Voerner'), +('2199','Epidermolytic palmoplantar keratoderma of Vörner'), +('2200','Focal palmoplantar and gingival hyperkeratosis'), +('2198','Bennion-Patterson syndrome'), +('2198','Howell-Evans syndrome'), +('2198','Keratosis palmoplantaris-esophageal carcinoma syndrome'), +('2198','Palmoplantar hyperkeratosis-esophageal carcinoma syndrome'), +('2198','Tylosis-oesophageal carcinoma syndrome'), +('251858','MBEN'), +('495','Greither disease'), +('495','Keratosis extremitatum hereditaria progrediens'), +('495','Keratosis palmoplantaris transgrediens et progrediens'), +('495','Progressive diffuse PPK'), +('495','Progressive diffuse palmoplantar keratoderma'), +('495','Transgrediens et progrediens PPK'), +('2201','Palmoplantar hyperkeratosis-spastic paralysis syndrome'), +('2201','Powell-Venencie-Gordon syndrome'), +('2202','PPK-deafness syndrome'), +('2202','Palmoplantar hyperkeratosis-deafness syndrome'), +('2202','Palmoplantar hyperkeratosis-hearing loss syndrome'), +('2202','Palmoplantar keratoderma-hearing loss syndrome'), +('251870','CNS PNET'), +('251870','Central nervous system primitive neuroectodermal tumor'), +('251902','Atypical CPP'), +('251902','Atypical choroid plexus papilloma'), +('2213','Bixler-Christian-Gorlin syndrome'), +('2213','HMC syndrome'), +('251891','AT/RT'), +('2211','Acrofrontofacionasal dysostosis type 2'), +('2211','Acrofrontofacionasal syndrome type 2'), +('2211','Naguib-Richieri-Costa syndrome'), +('251915','PTPR'), +('2215','Froster-Iskenius-Waterson-Hall syndrome'), +('2215','Malignant hyperthermia-arthrogryposis-torticollis syndrome'), +('251019','Del(2)(q32)'), +('251019','Del(2)(q32q33)'), +('251019','Monosomy 2q32'), +('251019','Monosomy 2q32q33'), +('2266','Lopes-Marques de Faria syndrome'), +('251028','2q33.1 microdeletion syndrome'), +('251028','Del(2)(q33.1)'), +('251028','Monosomy 2q33.1'), +('2269','Jagell-Holmgren-Hofer syndrome'), +('251038','Trisomy 3q29'), +('2267','Sidransky-Feinstein-Goodman syndrome'), +('250999','Del(1)(q41q42)'), +('250999','Monosomy 1q41q42'), +('2261','Goldblatt-Wallis syndrome'), +('251004','UPD(1)pat'), +('251009','UPD(1)mat'), +('672','Hypothalamic hamartoblastoma syndrome'), +('251014','Del(2)(q31.1)'), +('251014','Monosomy 2q31.1'), +('455','Ichthyosis bullosa of Siemens'), +('455','SEI'), +('251061','Del(7)(q31)'), +('251061','Monosomy 7q31'), +('251066','Del(8)(p11.2)'), +('251066','Monosomy 8p11.2'), +('2272','Clayton Smith-Donnai syndrome'), +('251071','Del(8)(p23.1)'), +('251071','Monosomy 8p23.1'), +('2274','Dykes-Marks-Harper syndrome'), +('251076','Dup(8)(p23.1p23.1)'), +('251076','Trisomy 8p23.1'), +('2273','IFAP syndrome'), +('2273','Ichthyosis follicularis-atrichia-photophobia syndrome'), +('251043','Ring 5'), +('251043','Ring chromosome 5'), +('165','Lipidosis with triglyceride storage disease'), +('251046','Del(6)(p22)'), +('251046','Monosomy 6p22'), +('139','CHILD nevus'), +('139','Congenital hemidysplasia with ichthyosiform nevus and limbs defects'), +('457','HI'), +('457','Ichthyosis congenita, Harlequin type'), +('457','Ichthyosis fetalis, Harlequin type'), +('2271','Congenital ichthyosis-microcephalus-quadriplegia syndrome'), +('251056','Del(6)(q25)'), +('251056','Monosomy 6q25'), +('250831','LPA'), +('250831','Logopenic primary progressive aphasia'), +('250831','Logopenic variant PPA'), +('2241','Berdon syndrome'), +('2241','MMIHS'), +('2241','Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome'), +('2256','Saito-Kuba-Tsuruta syndrome'), +('250977','5-amino-4-imidazole carboxamide ribosiduria'), +('250977','ATIC deficiency'), +('250994','Dup(1)(q21.1)'), +('250994','Trisomy 1q21.1'), +('250989','Del(1)(q21)'), +('250989','Monosomy 1q21.1'), +('2250','Bosma arhinia-microphthalmia syndrome'), +('2250','Bosma-Henkin-Christiansen syndrome'), +('2251','Sparse hair-short stature-skin anomalies syndrome'), +('250908','Rare tumoral disease'), +('2252','Schmitt-Gillenwater-Kelly syndrome'), +('2255','Yorifuji-Okuno syndrome'), +('251380','HPFH-sickle cell disease syndrome'), +('2306','Kawashima syndrome'), +('2306','Microtia-aortic arch syndrome'), +('251383','X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome'), +('2305','Isotretinoin embryopathy'), +('2305','Retinoic acid embryopathy'), +('2305','Retinoids embryopathy'), +('251370','HbSD disease'), +('251375','HbSE disease'), +('251359','HbS-beta-thalassemia syndrome'), +('251365','HbSC disease'), +('2295','Familial joint instability syndrome'), +('2295','Familial joint laxity'), +('2295','Joint instability syndrome'), +('251355','Double heterozygotes sickling disorder'), +('2319','Cleft lip/palate-abnormal thumbs-microcephaly syndrome'), +('2319','Orocraniodigital syndrome'), +('251523','Hz/Hc'), +('251523','PAMI syndrome'), +('251523','PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome'), +('2316','Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome'), +('2316','Alopecia-anosmia-deafness-hypogonadism syndrome'), +('2316','Johnson-McMillin syndrome'), +('2315','JBS'), +('251510','46,XY PGD'), +('251510','46,XY partial testicular dysgenesis'), +('251515','DA10'), +('251515','Plantar flexion contracture'), +('251515','Short Achilles tendon'), +('251515','Short tendo calcaneus'), +('2309','PC'), +('251393','JEB-nH loc'), +('2307','Oculo-oto-radial syndrome'), +('2307','Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia'), +('251295','PPRCA'), +('251290','Parietal foramina with cleidocranial dysplasia'), +('2282','Dysmorphism-short stature-hearing loss-disorder of sex development syndrome'), +('2282','Ieshima-Koeda-Inagaki syndrome'), +('251282','SPAX1'), +('251279','Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome'), +('251274','FH-III'), +('251274','FH3'), +('251274','Familial hyperaldosteronism type 3'), +('2278','Passwell-Goodman-Siprkowski syndrome'), +('251262','Osteochondritis dissecans and short stature'), +('251347','ATLD'), +('251332','Persistent fever/inflammation of unknown origin'), +('2290','Congenital microvillous atrophy'), +('2290','Congenital microvillus atrophy'), +('2290','MVID'), +('2290','Microvillous inclusion disease'), +('2285','Bull-Nixon syndrome'), +('251307','Idiopathic relapsing pericarditis'), +('2286','SMMCI'), +('2286','Single upper central incisor'), +('2675','Maccario-Mena syndrome'), +('254846','Isolated respiratory chain complex disorder'), +('2673','Freire Maia-Pinheiro-Opitz syndrome'), +('2672','Recurrent encephalophathy of childhood'), +('254857','LIMD'), +('254857','LIMM'), +('254857','Lethal infantile mitochondrial disease'), +('2678','Familial café-au-lait spots'), +('2678','Multiple café-au-lait spots'), +('2678','Multiple café-au-lait syndrome'), +('2678','NF6'), +('254864','Benign COX deficiency'), +('254864','Infantile reversible cytochrome C oxidase deficiency myopathy'), +('254864','Mitochondrial myopathy with reversible COX deficiency'), +('254864','Mitochondrial myopathy with reversible complex IV deficiency'), +('254864','Reversible infantile cytochrome C oxidase deficiency'), +('254864','Reversible infantile respiratory chain deficiency'), +('2676','Oerter-Friedman-Anderson syndrome'), +('254851','Maternally-inherited mitochondrial dystonia'), +('254851','mtDNA-related dystonia'), +('2668','Edwards-Patton-Dilly syndrome'), +('2668','Nephropathy-hearing loss-hyperparathyroidism syndrome'), +('254807','Multiple mtDNA deletion syndrome'), +('2663','Deafness-cataract-skeletal anomalies syndrome'), +('2663','Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome'), +('2662','Nasodigitoacoustic syndrome'), +('254793','Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA'), +('254793','OXPHOS disease due to a duplication of mitochondrial DNA'), +('254793','OXPHOS disease due to a duplication of mtDNA'), +('254803','mtDNA depletion syndrome, encephalomyopathic form'), +('1475','Coloboma of optic nerve with renal disease'), +('1475','Papillo-renal syndrome'), +('2670','Microcoria-congenital nephrosis syndrome'), +('254822','OXPHOS disease with no known mechanism'), +('2669','Braun-Bayer syndrome'), +('2669','Nephrosis-hearing loss-urinary tract-digital malformations syndrome'), +('254930','COXPD7'), +('254930','Severe C12ORF65-related COXPD'), +('254930','Severe C12ORF65-related combined oxidative phosphorylation defect'), +('254925','COXPD4'), +('2697','ARC syndrome'), +('254920','COXPD2'), +('254913','Isolated mitochondrial respiratory chain complex V deficiency'), +('255182','2-oxoglutarate complex deficiency'), +('255182','Branched chain alpha-ketoacid dehydrogenase complex deficiency'), +('255182','Diaphorase deficiency'), +('255182','Dihydrolipoyl dehydrogenase deficiency'), +('255182','Glycine cleavage system L protein deficiency'), +('255182','Lipoamide dehydrogenase deficiency'), +('255182','Pyruvate dehydrogenase complex component E3 deficiency'), +('255182','Pyruvate dehydrogenase protein X component deficiency'), +('2701','NS/LAH'), +('2701','Tosti syndrome'), +('255138','PDHBD'), +('255138','Pyruvate dehydrogenase complex E1 component subunit beta deficiency'), +('255132','GLRX5-related sideroblastic anemia'), +('2698','Bart-Pumphrey syndrome'), +('2698','Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome'), +('2698','Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome'), +('2698','Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome'), +('254886','arPEO'), +('254881','MSCAE'), +('254881','Mitochondrial spinocerebellar ataxia with epilepsy'), +('254881','SCAE'), +('254875','mtDNA depletion syndrome, myopathic form'), +('254871','Deoxyguanosine kinase deficiency'), +('254871','mtDNA depletion syndrome, hepatocerebral form'), +('254905','Isolated COX deficiency'), +('254905','Isolated mitochondrial respiratory chain complex IV deficiency'), +('2690','Neutropenia-monocytopenia-hearing loss syndrome'), +('254898','Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome'), +('2691','Cerebral gigantism, Nevo type'), +('254892','adPEO'), +('2712','Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome'), +('2712','OFCD syndrome'), +('2714','Oculo-palato-cerebral dwarfism'), +('2715','Hunter-Jurenka-Thompson syndrome'), +('2715','ORC syndrome'), +('2715','Oculorenocerebellar syndrome'), +('2718','Cecato de Lima-Pinheiro syndrome'), +('2717','MOTA syndrome'), +('2717','Manitoba oculotrichoanal syndrome'), +('2717','Marles syndrome'), +('2717','Marles-Greenberg-Persaud syndrome'), +('2704','Hydronephrosis-inverted smile syndrome'), +('2704','Inverted smile-neurogenic bladder syndrome'), +('2704','Partial facial palsy with urinary abnormalities'), +('2704','Urofacial syndrome'), +('255199','Sporadic Leigh disease'), +('255199','Sporadic infantile subacute necrotizing encephalopathy'), +('2703','Nova syndrome'), +('255210','MILS'), +('255210','Maternally-inherited Leigh disease'), +('255210','Maternally-inherited infantile subacute necrotizing encephalopathy'), +('255210','mtDNA-associated Leigh syndrome'), +('2705','Behrens-Baumann-Vogel syndrome'), +('2705','Microphthalmia-optic nerve aplasia syndrome'), +('2708','Plum syndrome'), +('255229','Navajo neuropathy'), +('255235','mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy'), +('2710','Meyer-Schwickerath syndrome'), +('2710','ODDD syndrome'), +('2710','Oculodentoosseous dysplasia'), +('255241','Infantile subacute necrotizing encephalopathy with leukodystrophy'), +('255241','Leigh disease with leukodystrophy'), +('2709','Gingival hypertrophy-corneal dystrophy'), +('2709','Rutherfurd syndrome'), +('255249','Infantile subacute necrotizing encephalopathy with nephrotic syndrome'), +('255249','Leigh disease with nephrotic syndrome'), +('2728','BMRS, Ohdo type'), +('2728','Blepharophimosis syndrome, Ohdo type'), +('2728','Ohdo syndrome'), +('2728','Ohdo-Madokoro-Sonoda syndrome'), +('2732','Olivopontocerebellar atrophy-hearing loss syndrome'), +('2719','Cross syndrome'), +('2721','OODD'), +('2723','Freire-Maia syndrome'), +('2724','Boder syndrome'), +('260305','ARSA'), +('260305','Congenital sideroblastic anemia'), +('2725','Al Gazali-Al Talabani syndrome'), +('2725','Al Gazali-Lytle syndrome'), +('2755','OFD8'), +('2755','Oral-facial-digital syndrome type 8'), +('2755','Oral-facial-digital syndrome, Edwards type'), +('2755','Orofaciodigital syndrome, Edwards type'), +('2754','Joubert syndrome with oral-facial-digital syndrome'), +('2754','Joubert syndrome with orofaciodigital defect'), +('2754','OFD6'), +('2754','Oral-facial-digital syndrome type 6'), +('2754','Polydactyly-cleft lip/palate-psychomotor retardation syndrome'), +('2754','Váradi syndrome'), +('2754','Váradi-Papp syndrome'), +('252164','Neurilemmoma'), +('252164','Neurilemoma'), +('252164','Peripheral fibroblastoma'), +('2753','Baraitser-Burn syndrome'), +('2753','Mohr-Majewski syndrome'), +('2753','OFD4'), +('2753','Oral-facial-digital syndrome type 4'), +('2752','OFD3'), +('2752','Oral-facial-digital syndrome type 3'), +('2752','Sugarman syndrome'), +('2751','Mohr syndrome'), +('2751','OFD2'), +('2751','Oral-facial-digital syndrome type 2'), +('252128','Malignant perineurioma'), +('2750','OFD1'), +('2750','OFDI'), +('2750','OFDSI'), +('2750','Oral-facial-digital syndrome type 1'), +('2750','Papillon-Léage-Psaume syndrome'), +('252131','BPNST'), +('252057','Rare tumor of cranial and spinal nerves'), +('252050','Malignant melanoma of meninges'), +('252050','Primary melanoma of the CNS'), +('2743','Levic-Stefanovic-Nikolic syndrome'), +('2741','OMM syndrome'), +('2741','Pillay syndrome'), +('252031','DLM'), +('252031','Leptomeningeal melanomatosis'), +('2739','Itin syndrome'), +('2739','ONMR syndrome'), +('2739','Trichothiodystrophy type G'), +('252028','Primary melanocytic lesion of CNS'), +('252028','Primary melanocytic lesion of central nervous system'), +('252028','Primary melanocytic tumor of CNS'), +('661','CCHS'), +('661','Central congenital hypoventilation syndrome'), +('661','Congenital central alveolar hypoventilation syndrome'), +('661','Ondine curse'), +('2736','Czeizel syndrome'), +('252021','Mixed germ cell tumor of CNS'), +('254367','Rare LP'), +('2776','Distal osteolysis-short stature-intellectual disability syndrome'), +('2776','Petit-Fryns syndrome'), +('2777','Axial osteosclerosis'), +('254361','Autosomal recessive limb-girdle muscular dystrophy type 2Q'), +('254361','LGMD type 2Q'), +('254361','LGMD2Q'), +('254361','Limb-girdle muscular dystrophy type 2Q'), +('254361','Plectin-related LGMD R17'), +('2774','Idiopathic multicentric osteolysis with or without nephropathy'), +('254351','Distal del(7)(q11.23)'), +('254351','Distal monosomy 7q11.23'), +('2775','Hereditary multicentric osteolysis'), +('254346','Del(19)(p13.12)'), +('254346','Monosomy 19p13.12'), +('2770','NHD'), +('2770','PLO-SL'), +('2770','PLOSL'), +('2770','Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy'), +('254343','Autosomal recessive spastic ataxia type 4'), +('254343','SPAX4'), +('2767','Maroteaux-Le Merrer-Bensahel syndrome'), +('254334','RI-CMT type B'), +('2768','Infantile tibia vara'), +('2768','Osteochondrosis deformans tibiae'), +('2768','Tibia vara Blount'), +('2762','Familial ectopic ossification'), +('2762','POH'), +('252212','MPNST with rhabdomyosarcomatous differentiation'), +('252212','MTT'), +('252212','Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation'), +('2763','Gracile bone dysplasia'), +('2763','Osteocraniosplenic syndrome'), +('252206','Melanoma-astrocytoma syndrome'), +('252202','CMMR-D syndrome'), +('2759','Seghers syndrome'), +('2760','Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome'), +('252175','Acoustic neurilemoma'), +('252175','Acoustic neurinoma'), +('252175','Acoustic neuroma'), +('2792','Fara-Chlupackova syndrome'), +('2792','OFC syndrome'), +('254519','KOS'), +('254525','Paternal del(14)(q32.2)'), +('2798','Kuzniecky syndrome'), +('2796','PDP'), +('2796','Touraine-Solente-Gole syndrome'), +('254528','Maternal del(14)(q32.2)'), +('254528','Maternal monosomy 14q32.2'), +('254478','LP pemphigoides'), +('2789','Lehman syndrome'), +('2788','OPPG'), +('2788','Ocular form of osteogenesis imperfecta'), +('254492','FFA'), +('2791','Globodontia'), +('2791','Otodental dysplasia'), +('254504','Inhalation botulism'), +('2790','Autosomal dominant osteosclerosis, Worth type'), +('2790','Worth syndrome'), +('254509','Inadvertent botulism'), +('254411','Annular atrophic LP'), +('1306','Disseminated dermatofibrosis with osteopoikilosis'), +('254424','Annular LP'), +('2787','Heide syndrome'), +('254449','Atrophic LP'), +('2786','Hernández-Fragoso syndrome'), +('2786','OOCHS'), +('254463','LP pigmentosa'), +('254463','LP pigmentosus'), +('254463','Lichen planus pigmentosa'), +('254463','Lichen planus pigmentosus inversus'), +('254370','Rare cutaneous LP'), +('2780','Hyperostosis generalisata with striations'), +('2780','Robinow-Unger syndrome'), +('254373','Rare mucosal LP'), +('2779','Whyte-Murphy syndrome'), +('254379','Blaschkoid LP'), +('254379','Blaschkoid lichen planus'), +('254379','Linear LP'), +('254395','Actinic LP'), +('254395','Lichen planus actinus'), +('254395','Lichen planus subtropicus'), +('254395','Lichen planus tropicus'), +('254395','Lichenoid melanodermatitis'), +('254395','Summertime actinic lichenoid eruption'), +('667','Infantile malignant osteopetrosis'), +('2815','Spastic paraparesis-hearing loss syndrome'), +('2815','Wells-Jankovic syndrome'), +('254767','Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA'), +('254767','OXPHOS disease due to a large-scale single deletion of mitochondrial DNA'), +('254767','OXPHOS disease due to a large-scale single deletion of mtDNA'), +('2823','Fitzsimmons-Guilbert syndrome'), +('254758','Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies'), +('254758','OXPHOS disease due to mitochondrial DNA anomalies'), +('254758','OXPHOS disease due to mtDNA anomalies'), +('2816','SPEMR'), +('254788','Maternally-inherited mitochondrial myopathy'), +('254788','mtDNA-related mitochondrial myopathy'), +('254776','Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA'), +('254776','OXPHOS disease due to a point mutation of mitochondrial DNA'), +('254776','OXPHOS disease due to a point mutation of mtDNA'), +('254723','PHID'), +('2808','Familial vocal cord dysfunction'), +('2808','Gerhardt syndrome'), +('254712','Familial Rosaï-Dorfman disease'), +('254712','Familial SHML'), +('2809','Familial recurrent Bell palsy'), +('254749','Citric acid cycle disorder'), +('254749','Krebs cycle disorder'), +('254749','TCA cycle disorder'), +('2812','Hard skin syndrome, Parana type'), +('2805','Congenital pancreatic agenesis'), +('2805','Partial agenesis of the pancreas'), +('254693','Incomplete hydatidiform mole'), +('254693','Incomplete molar pregnancy'), +('254693','Partial molar pregnancy'), +('2807','CPP'), +('2807','Choroid plexus papilloma'), +('254707','FHC'), +('678','Keratosis palmoplantar-periodontopathy syndrome'), +('678','PLS'), +('254704','Benign hyperferritinemia'), +('2802','Pagon-Bird-Detter syndrome'), +('2802','X-linked sideroblastic anemia with ataxia'), +('2802','XLSA-A'), +('254688','Complete molar pregnancy'), +('2804','Pallister-W syndrome'), +('619','Hypergonadotropic ovarian failure'), +('619','Premature menopause'), +('619','Premature ovarian failure'), +('619','Premature ovarian insufficiency'), +('619','Primary ovarian insufficiency'), +('2492','Fibular aplasia-tibial campomelia-oligosyndactyly syndrome'), +('2492','Hecht-Scott syndrome'), +('2498','Fusion of metacarpals 4 and 5'), +('2496','8q13 microdeletion syndrome'), +('2496','Del(8)q(13)'), +('2496','Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type'), +('2496','Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type'), +('2496','Monosomy 8q13'), +('2496','Verloes-David syndrome'), +('2497','Fryns-Hofkens-Fabry syndrome'), +('2497','Ulna hypoplasia'), +('2502','Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome'), +('2500','Acrogeria, Gottron type'), +('2500','Acrometageria'), +('2500','Gottron syndrome'), +('2506','3MC1 syndrome'), +('2506','Oculopalatoskeletal syndrome'), +('2505','CCSF'), +('2505','Circumferential skin creases, Kunze type'), +('2505','Congenital circumferential skin folds'), +('2505','Kunze-Riehm syndrome'), +('2511','Richieri Costa-Guion Almeida-Ramos syndrome'), +('261766','Partial monosomy of chromosome 1'), +('2510','WARBM'), +('2510','Warburg micro syndrome'), +('2508','ACC-abnormal genitalia syndrome'), +('2508','Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome'), +('2508','Proud syndrome'), +('2508','Proud-Levine-Carpenter syndrome'), +('261781','Partial monosomy of chromosome 4'), +('2516','Ellis-Yale-Winter syndrome'), +('261786','Partial monosomy of chromosome 5'), +('2515','Winship-Viljoen-Leary syndrome'), +('261771','Partial monosomy of chromosome 2'), +('261776','Partial monosomy of chromosome 3'), +('2513','Castro Gago-Pombo-Novo syndrome'), +('261801','Partial monosomy of chromosome 8'), +('261806','Partial monosomy of chromosome 9'), +('261791','Partial monosomy of chromosome 6'), +('2518','Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome'), +('261796','Partial monosomy of chromosome 7'), +('261821','Partial deletion of chromosome 12q'), +('261821','Partial monosomy of chromosome 12q'), +('261821','Partial monosomy of the long arm of chromosome 12'), +('2524','PCH2'), +('261826','Partial monosomy of chromosome 16'), +('261811','Partial monosomy of chromosome 10'), +('2523','Franek-Bocker-Kahlen syndrome'), +('261816','Partial monosomy of chromosome 11'), +('261836','Partial monosomy of chromosome 18'), +('2526','MLCRD'), +('261831','Partial monosomy of chromosome 17'), +('261846','Partial monosomy of chromosome 20'), +('2528','Seemanova-Lesny syndrome'), +('261841','Partial monosomy of chromosome 19'), +('261866','Partial deletion of chromosome 2p'), +('261866','Partial monosomy of chromosome 2p'), +('261866','Partial monosomy of the short arm of chromosome 2'), +('261857','Partial deletion of chromosome 1p'), +('261857','Partial monosomy of chromosome 1p'), +('261857','Partial monosomy of the short arm of chromosome 1'), +('261884','Partial deletion of chromosome 4p'), +('261884','Partial monosomy of chromosome 4p'), +('261884','Partial monosomy of the short arm of chromosome 4'), +('2533','Kawashima-Tsuji syndrome'), +('2533','Microcephaly-hearing loss-intellectual disability syndrome'), +('261875','Partial deletion of chromosome 3p'), +('261875','Partial monosomy of chromosome 3p'), +('261875','Partial monosomy of the short arm of chromosome 3'), +('261902','Partial deletion of chromosome 6p'), +('261902','Partial monosomy of chromosome 6p'), +('261902','Partial monosomy of the short arm of chromosome 6'), +('261893','Partial deletion of chromosome 5p'), +('261893','Partial monosomy of chromosome 5p'), +('261893','Partial monosomy of the short arm of chromosome 5'), +('261920','Partial deletion of chromosome 8p'), +('261920','Partial monosomy of chromosome 8p'), +('261920','Partial monosomy of the short arm of chromosome 8'), +('261911','Partial deletion of chromosome 7p'), +('261911','Partial monosomy of chromosome 7p'), +('261911','Partial monosomy of the short arm of chromosome 7'), +('261938','Partial deletion of chromosome 10p'), +('261938','Partial monosomy of chromosome 10p'), +('261938','Partial monosomy of the short arm of chromosome 10'), +('261929','Partial deletion of chromosome 9p'), +('261929','Partial monosomy of chromosome 9p'), +('261929','Partial monosomy of the short arm of chromosome 9'), +('261956','Partial deletion of chromosome 16p'), +('261956','Partial monosomy of chromosome 16p'), +('261956','Partial monosomy of the short arm of chromosome 16'), +('2543','Congenital cataract-microphthalmia syndrome'), +('261947','Partial deletion of chromosome 11p'), +('261947','Partial monosomy of chromosome 11p'), +('261947','Partial monosomy of the short arm of chromosome 11'), +('261965','Partial deletion of chromosome 17p'), +('261965','Partial deletion of the short arm of chromosome 17'), +('261965','Partial monosomy of chromosome 17p'), +('2549','Hemifacial microsomia-radial defects syndrome'), +('2549','Moeschler-Clarren syndrome'), +('261974','Partial deletion of chromosome 18p'), +('261974','Partial monosomy of chromosome 18p'), +('261974','Partial monosomy of the short arm of chromosome 18'), +('261983','Partial deletion of chromosome 19p'), +('261983','Partial monosomy of chromosome 19p'), +('261983','Partial monosomy of the short arm of chromosome 19'), +('2551','Verloes-Van Maldergem-de Marneffe syndrome'), +('261992','Partial deletion of chromosome 20p'), +('261992','Partial deletion of the short arm of chromosome 20'), +('261992','Partial monosomy of chromosome 20p'), +('261992','Pure partial 20p deletion'), +('262001','Partial deletion of chromosome 1q'), +('262001','Partial monosomy of chromosome 1q'), +('262001','Partial monosomy of the long arm of chromosome 1'), +('2554','Meier-Gorlin syndrome'), +('262010','Partial deletion of chromosome 2q'), +('262010','Partial monosomy of chromosome 2q'), +('262010','Partial monosomy of the long arm of chromosome 2'), +('262019','Partial deletion of chromosome 3q'), +('262019','Partial monosomy of chromosome 3q'), +('262019','Partial monosomy of the long arm of chromosome 3'), +('2556','MCOPS7'), +('2556','MIDAS syndrome'), +('2556','MLS syndrome'), +('2556','Microphthalmia-dermal aplasia-sclerocornea syndrome'), +('2556','Syndromic microphthalmia type 7'), +('262029','Partial deletion of chromosome 4q'), +('262029','Partial monosomy of chromosome 4q'), +('262029','Partial monosomy of the long arm of chromosome 4'), +('262038','Partial deletion of chromosome 5q'), +('262038','Partial monosomy of chromosome 5q'), +('262038','Partial monosomy of the long arm of chromosome 5'), +('2558','Microcephaly-hypergonadotropic hypogonadism-short stature syndrome'), +('262047','Partial deletion of chromosome 6q'), +('262047','Partial monosomy of chromosome 6q'), +('262047','Partial monosomy of the long arm of chromosome 6'), +('2557','Intellectual disability, Mietens-Weber type'), +('2561','Ackerman fused molar roots syndrome'), +('262056','Partial deletion of chromosome 7q'), +('262056','Partial monosomy of chromosome 7q'), +('262056','Partial monosomy of the long arm of chromosome 7'), +('262065','Partial deletion of chromosome 8q'), +('262065','Partial monosomy of chromosome 8q'), +('262065','Partial monosomy of the long arm of chromosome 8'), +('2564','Sommer-Hines syndrome'), +('262074','Partial deletion of chromosome 9q'), +('262074','Partial deletion of the long arm of chromosome 9'), +('262074','Partial monosomy of chromosome 9q'), +('262083','Partial deletion of chromosome 10q'), +('262083','Partial deletion of the long arm of chromosome 10'), +('262083','Partial monosomy of chromosome 10q'), +('2563','Macrocephaly-obesity-mental disability-ocular abnormalities syndrome'), +('2563','Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome'), +('262092','Partial deletion of chromosome 11q'), +('262092','Partial monosomy of chromosome 11q'), +('262092','Partial monosomy of the long arm of chromosome 11'), +('262101','Partial deletion of chromosome 13q'), +('262101','Partial monosomy of chromosome 13q'), +('262101','Partial monosomy of the long arm of chromosome 13'), +('2565','Skeletal dysplasia-brachydactyly syndrome'), +('2574','Alopecia-epilepsy-intellectual disability syndrome, Moynahan type'), +('575','Neutrophilic urticaria'), +('2572','Bedouin spastic ataxia syndrome'), +('2572','Mousa-Al Din-Al Nassar syndrome'), +('2572','Spastic ataxia-ocular anomalies syndrome'), +('2573','Idiopathic Moyamoya disease'), +('2570','Morse-Rawnsley-Sargent syndrome'), +('2571','Woods-Black-Norbury syndrome'), +('2569','Dwarfism-stiff joint-ocular abnormalities syndrome'), +('261183','15q11.2 BP1-BP2 microdeletion syndrome'), +('261183','Del(15)(q11.2)'), +('261183','Monosomy 15q11.2'), +('2585','Myelocerebellar disorder'), +('261144','Del(14)(q12)'), +('261144','Monosomy 14q12'), +('261120','Del(14)(q11.2)'), +('261120','Monosomy 14q11.2'), +('2578','Atypical MRKH syndrome'), +('2578','MRKH syndrome type 2'), +('2578','MURCS association'), +('2578','Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome'), +('261112','9p deletion syndrome'), +('261112','9p- syndrome'), +('261112','Alfi syndrome'), +('2579','Furukawa-Takagi-Nakao syndrome'), +('261102','Distal dup(7)(q11.23)'), +('261102','Distal trisomy 7q11.23'), +('261102','Dup7q11.23D'), +('2576','MUL'), +('2576','Mulibrey growth disorder'), +('2576','Muscle-liver-brain-eye nanism'), +('261236','Del(16)(p13.11)'), +('261236','Monosomy 16p13.11'), +('261243','Dup(16)(p13.11)'), +('261243','Trisomy 16p13.11'), +('261222','Distal del(16)(p11.2)'), +('261222','Distal monosomy 16p11.2'), +('1359','Carney syndrome'), +('1359','Myxoma-spotty pigmentation-endocrine overactivity syndrome'), +('261229','Dup(14)(q11.2)'), +('261229','Trisomy 14q11.2'), +('2590','Hereditary myoclonus-progressive distal muscular atrophy syndrome'), +('2590','Jankovic-Rivera syndrome'), +('2590','SMA-PME'), +('261204','Dup(16)(p11.2p12.2)'), +('261204','Trisomy 16p11.2p12.2'), +('261211','Del(16)(p11.2p12.2)'), +('261211','Monosomy 16p11.2p12.2'), +('2589','Myoclonus-cerebellar ataxia-hearing loss syndrome'), +('261190','Del(15)(q14)'), +('261190','Monosomy 15q14'), +('2588','Facial dysmorphism-intellectual disability-short stature-deafness syndrome'), +('2588','Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome'), +('261197','Proximal del(16)(p11.2)'), +('261197','Proximal monosomy 16p11.2'), +('261295','Del(20)(p12.3)'), +('261295','Monosomy 20p12.3'), +('2621','Christian-Rosenberg syndrome'), +('261304','Paternal del(20)(q13.2q13.3)'), +('261304','Paternal monosomy 20q13.2q13.3'), +('261279','Del(17)(q23.1q23.2)'), +('261279','Monosomy 17q23.1q23.2'), +('261290','Dup(17p)'), +('2617','Bird-headed dwarfism, Montreal type'), +('261265','Del(17)(q12)'), +('261265','Monosomy 17q12'), +('261272','Dup(17)(q12)'), +('261272','Trisomy 17q12'), +('261250','Del(16)(q24.3)'), +('261250','Monosomy 16q24.3'), +('2616','3-M syndrome'), +('2616','Dolichospondylic dysplasia'), +('2616','Gloomy face syndrome'), +('2616','Le Merrer syndrome'), +('2616','Yakut short stature syndrome'), +('2613','Salcedo syndrome'), +('261257','Distal del(17)(p13.3 )'), +('261257','Distal monosomy 17p13.3'), +('261344','Duplication 1q'), +('261337','Distal dup(22)(q11.2)'), +('261337','Distal trisomy 22q11.2'), +('261476','Del(X)(p21)'), +('261476','Glycerol kinase deficiency-contiguous gene syndrome'), +('261476','Xp21 contiguous gene deletion syndrome'), +('261349','Del(2)(p15p16.1)'), +('261349','Monosomy 2p15p16.1'), +('261318','Dup(20p)'), +('261318','Duplication of 20p'), +('261318','Partial duplication of chromosome 20p'), +('261318','Partial duplication of the short arm of chromosome 20'), +('261318','Partial trisomy of chromosome 20p'), +('261318','Partial trisomy of the short arm of chromosome 20'), +('261311','Del(20)(q13.33)'), +('261311','Monosomy 20q13.33'), +('2623','Geleophysic dwarfism'), +('261330','Distal del(22)(q11.2)'), +('261330','Distal monosomy 22q11.2'), +('261323','Del(21)(q22.11q22.12)'), +('261323','Monosomy 21q22.11q22.12'), +('261524','UPD(X)pat'), +('2639','Du Pan syndrome'), +('261519','UPD(X)mat'), +('2640','McAlister-Crane syndrome'), +('261529','Ring chromosome Y'), +('261529','r(Y)'), +('2631','Mesomelic dysplasia, Kozlowski-Reardon type'), +('2631','Mesomelic dysplasia, Reardon type'), +('2631','Reardon-Hall-Slaney syndrome'), +('261483','Dup(X)(q27.3q28)'), +('261483','Trisomy Xq27.3-q28'), +('261483','Trisomy Xq27.3q28'), +('261483','Xq27.3-q28 microduplication syndrome'), +('2632','Mesomelic dwarfism, Langer type'), +('261512','Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion'), +('261512','Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)'), +('2633','Mesomelic dwarfism, Nievergelt type'), +('2633','Nievergelt syndrome'), +('261501','Atypical Norrie disease due to del(X)(p11.3)'), +('261501','Atypical Norrie disease due to nullisomy Xp11.3'), +('2634','Reinhardt-Pfeiffer mesomelic dysplasia'), +('2634','Reinhardt-Pfeiffer syndrome'), +('261579','Blepharophimosis types 1 and 2 due to copy number variations'), +('261579','Blepharophimosis-epicanthus inversus-ptosis due to a CNV'), +('2645','Osteoglophonic dwarfism'), +('261584','Colorectal adenomatous polyposis due to monosomy 5q22.2'), +('261584','FAP due to monosomy 5q22.2'), +('261584','Familial adenomatous polyposis due to del(5)(q22.2)'), +('261584','Familial adenomatous polyposis due to monosomy 5q22.2'), +('261584','Familial polyposis coli due to monosomy 5q22.2'), +('261600','Alagille syndrome due to del(20)(p12)'), +('261600','Alagille syndrome due to monosomy 20p12'), +('261600','Alagille-Watson syndrome due to monosomy 20p12'), +('261600','Arteriohepatic dysplasia due to monosomy 20p12'), +('261600','Syndromic bile duct paucity due to monosomy 20p12'), +('261619','Alagille-Watson syndrome due to a JAG1 point mutation'), +('261619','Arteriohepatic dysplasia due to a JAG1 point mutation'), +('261619','Syndromic bile duct paucity due to a JAG1 point mutation'), +('261537','Hirschsprung disease and intellectual disability due to 2q22 microdeletion'), +('261537','Hirschsprung disease and intellectual disability due to del(2)(q22)'), +('261537','Hirschsprung disease and intellectual disability due to monosomy 2q22'), +('261537','Mowat-Wilson syndrome due to 2q22 microdeletion'), +('261537','Mowat-Wilson syndrome due to del(2)q(22)'), +('261552','Hirschsprung disease and intellectual disability due to a ZEB2 point mutation'), +('261572','Blepharophimosis types 1 and 2 due to a point mutation'), +('2636','MOPD types I and III'), +('2636','Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type'), +('2636','Primordial microcephalic dwarfism, Crachami type'), +('2636','Taybi-Linder syndrome'), +('261629','Alagille-Watson syndrome due to a NOTCH2 point mutation'), +('261629','Arteriohepatic dysplasia due to a NOTCH2 point mutation'), +('261629','Syndromic bile duct paucity due to a NOTCH2 point mutation'), +('261638','Duane-radial ray syndrome due to monosomy 20q13'), +('261638','Okihiro syndrome due to del(20)(q13)'), +('261638','Okihiro syndrome due to monosomy 20q13'), +('2650','Mollica-Pavone-Antener syndrome'), +('261647','Duane-radial ray syndrome due to a point mutation'), +('2654','Laplane-Fontaine-Lagardere syndrome'), +('264200','14q22-q23 microdeletion syndrome'), +('264200','Del(14)(q22q23)'), +('264200','Monosomy 14q22-q23'), +('264200','Monosomy 14q22q23'), +('3059','MRX35'), +('263793','UPD(X)'), +('263783','Partial duplication of chromosome Xq'), +('263783','Partial trisomy of chromosome Xq'), +('263783','Partial trisomy of the long arm of chromosome X'), +('263775','Partial duplication of chromosome Xp'), +('263775','Partial trisomy of chromosome Xp'), +('263775','Partial trisomy of the short arm of chromosome X'), +('263768','Partial trisomy of chromosome X'), +('3057','Brunner syndrome'), +('3055','Young-Hughes syndrome'), +('263756','Partial deletion of chromosome Xq'), +('263756','Partial monosomy of chromosome Xq'), +('263756','Partial monosomy of the long arm of chromosome X'), +('3050','Medrano-Roldan syndrome'), +('3052','Tranebjaerg-Svejgaard syndrome'), +('263731','Partial deletion of chromosome Xp'), +('263731','Partial deletion of the short arm of chromosome X'), +('263731','Partial monosomy of chromosome Xp'), +('3046','Davis-Lafer syndrome'), +('263726','Partial monosomy of chromosome X'), +('3047','Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome'), +('3047','SBBYSS'), +('3047','Say-Barber-Biesecker-Young-Simpson syndrome'), +('3043','Morillo Cucci-Passarge syndrome'), +('3042','Primrose syndrome'), +('3041','Scholte-Begeer-van Essen syndrome'), +('3038','Mehes syndrome'), +('263558','Generalized deciduous skin type C'), +('263558','Generalized peeling skin syndrome type C'), +('3035','Game-Friedman-Paradice syndrome'), +('3034','Gonzales-del Angel syndrome'), +('263548','Generalized deciduous skin type A'), +('263548','Generalized peeling skin syndrome type A'), +('263548','Non-inflammatory generalized peeling skin syndrome type A.'), +('263548','Non-inflammatory peeling skin syndrome type A'), +('263548','PSS type A'), +('3033','Primitive renal tubule syndrome'), +('3033','Renotubular dysgenesis'), +('263553','Generalized deciduous skin type B'), +('263553','Generalized peeling skin syndrome type B'), +('263553','Inflammatory peeling skin syndrome'), +('263553','PSS type B'), +('3032','Goldston syndrome'), +('3032','Meckel syndrome type 7'), +('3032','Meckel-like syndrome type 1'), +('3032','Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome'), +('263534','Acral PSS'), +('263534','Acral deciduous skin'), +('263534','Localized PSS'), +('263534','Localized deciduous skin'), +('263543','Generalized PSS'), +('263543','Generalized deciduous skin'), +('263516','CLN14 disease'), +('263516','EPM3'), +('263516','PME type 3'), +('263516','Progressive myoclonic epilepsy due to KCTD7 deficiency'), +('263516','Progressive myoclonus epilepsy type 3'), +('263524','ANEC'), +('263524','Isolated ANE'), +('263524','Isolated acute necrotizing encephalopathy'), +('263501','CDG syndrome type IIj'), +('263501','CDG-IIj'), +('263501','CDG2J'), +('263501','Carbohydrate deficient glycoprotein syndrome type IIj'), +('263501','Congenital disorder of glycosylation type 2j'), +('263501','Congenital disorder of glycosylation type IIj'), +('3026','Goldblatt-Viljoen syndrome'), +('263508','CDG syndrome type IIg'), +('263508','CDG-IIg'), +('263508','CDG2G'), +('263508','Carbohydrate deficient glycoprotein syndrome type IIg'), +('263508','Congenital disorder of glycosylation type 2g'), +('263508','Congenital disorder of glycosylation type IIg'), +('263482','Pseudo-Morquio syndrome type 2'), +('3022','Anhidrotic ectodermic dysplasia-cleft lip/palate syndrome'), +('3022','Ectodermal dysplasia syndrome, Rapp-Hodgkin type'), +('3022','Ectodermal dysplasia, Rapp-Hodgkin type'), +('3022','RHS'), +('263479','FHI'), +('263494','CDG syndrome type Io'), +('263494','CDG-Io'), +('263494','CDG1O'), +('263494','Carbohydrate deficient glycoprotein syndrome type Io'), +('263494','Congenital disorder of glycosylation type 1o'), +('263494','Congenital disorder of glycosylation type Io'), +('3023','Rasmussen-Johnsen-Thomsen syndrome'), +('263487','CDG syndrome type IIi'), +('263487','CDG-IIi'), +('263487','CDG2I'), +('263487','Carbohydrate deficient glycoprotein syndrome type IIi'), +('263487','Congenital disorder of glycosylation type 2i'), +('263487','Congenital disorder of glycosylation type IIi'), +('263458','Hyperinsulinemic hypoglycemia due to INSR deficiency'), +('263458','Hyperinsulinemic hypoglycemia due to insulin receptor deficiency'), +('263455','Hyperinsulinemic hypoglycemia due to HNF4A deficiency'), +('1832','Raine syndrome'), +('3018','Rambaud-Gallian syndrome'), +('3018','Rambaud-Gallian-Touchard syndrome'), +('3019','Cherubism-gingival fibromatosis-intellectual disability syndrome'), +('263463','Chondrodysplasia with congenital joint dislocations, CHST3 type'), +('263463','SDCD, CHST3 type'), +('263463','Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type'), +('263432','Nevus fuscocaeruleus acromiodeltoideus'), +('263425','Nevus fusculoceruleus ophthalmomaxillaris'), +('3010','Dysharmonic skeletal maturation-muscular fiber disproportion syndrome'), +('3011','Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome'), +('3003','Camera syndrome'), +('3005','Metaphyseal dysplasia, Pyle type'), +('263347','Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome'), +('263310','Primary thymic epithelial neoplasm type A'), +('263310','Primary thymic epithelial tumor type A'), +('2997','Tucker syndrome'), +('263317','Primary thymic epithelial neoplasm type B'), +('263317','Primary thymic epithelial tumor type B'), +('263324','Primary thymic epithelial neoplasm type AB'), +('263324','Primary thymic epithelial tumor type AB'), +('2999','McPherson-Hall syndrome'), +('2998','3MC2 syndrome'), +('2998','Carnevale-Krajewska-Fischetto syndrome'), +('2998','Mingarelli syndrome'), +('2998','OSA syndrome'), +('2998','Oculo-skeletal-abdominal syndrome'), +('2998','Ptosis-strabismus-rectus abdominis diastasis syndrome'), +('263054','UPD(15)'), +('263059','UPD(20)'), +('2990','Autosomal recessive non-lethal multiple pterygium syndrome'), +('2990','EVMPS'), +('2990','Escobar syndrome'), +('2990','Escobar variant multiple pterygium syndrome'), +('263064','UPD(21)'), +('263297','GSD type 15'), +('263297','GSD type XV'), +('263297','GSD with severe cardiomyopathy due to glycogenin deficiency'), +('263297','Glycogen storage disease type 15'), +('263297','Glycogen storage disease type XV'), +('263297','Glycogenosis type 15'), +('263297','Glycogenosis type XV'), +('263297','Glycogenosis with severe cardiomyopathy due to glycogenin deficiency'), +('263034','UPD(11)'), +('2985','Absent eyebrows and eyelashes-intellectual disability syndrome'), +('2985','Hal-Berg-Rudolph syndrome'), +('263044','UPD(13)'), +('263049','UPD(14)'), +('2988','Khalifa-Graham syndrome'), +('262995','Partial duplication of chromosome 20q'), +('262995','Partial duplication of the long arm of chromosome 20'), +('262995','Partial trisomy of chromosome 20q'), +('262986','Partial duplication of chromosome 19q'), +('262986','Partial trisomy of chromosome 19q'), +('262986','Partial trisomy of the long arm of chromosome 19'), +('3138','Pallister ulnar-mammary syndrome'), +('3138','Schinzel syndrome'), +('3138','UMS'), +('262977','Partial duplication of chromosome 18q'), +('262977','Partial duplication of the long arm of chromosome 18'), +('262977','Partial trisomy of chromosome 18q'), +('262968','Partial duplication of chromosome 17q'), +('262968','Partial trisomy of chromosome 17q'), +('262968','Partial trisomy of the long arm of chromosome 17'), +('263029','UPD(7)'), +('263024','UPD(6)'), +('263019','UPD(1)'), +('3143','APS type 2'), +('3143','APS2'), +('3143','Autoimmune polyendocrine syndrome type 2'), +('3143','Autoimmune polyglandular syndrome type 2'), +('3143','Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome'), +('3143','Schmidt syndrome'), +('3144','Chondrodysplasia with snail-like pelvis'), +('3144','SLC35D1-CDG'), +('263004','Partial duplication of chromosome 22q'), +('263004','Partial trisomy of chromosome 22q'), +('263004','Partial trisomy of the long arm of chromosome 22'), +('262923','Partial duplication of chromosome 11q'), +('262923','Partial trisomy of chromosome 11q'), +('262923','Partial trisomy of the long arm of chromosome 11'), +('3132','Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome'), +('262914','Partial duplication of chromosome 10q'), +('262914','Partial trisomy of chromosome 10q'), +('262914','Partial trisomy of the long arm of chromosome 10'), +('262905','Partial duplication of chromosome 9q'), +('262905','Partial duplication of the long arm of chromosome 9'), +('262905','Partial trisomy of chromosome 9q'), +('3128','ACPS III'), +('3128','ACPS with leg hypoplasia'), +('3128','Acrocephalopolysyndactyly type 3'), +('3128','Sakati syndrome'), +('3128','Sakati-Nyhan-Tisdale syndrome'), +('3130','Komuragaeri disease'), +('262896','Partial duplication of chromosome 8q'), +('262896','Partial trisomy of chromosome 8q'), +('262896','Partial trisomy of the long arm of chromosome 8'), +('262959','Partial duplication of chromosome 16q'), +('262959','Partial duplication of the long arm of chromosome 16'), +('262959','Partial trisomy of chromosome 16q'), +('798','SGS'), +('262950','Partial duplication of chromosome 15q'), +('262950','Partial trisomy of chromosome 15q'), +('262950','Partial trisomy of the long arm of chromosome 15'), +('3133','Triphalangeal thumbs-dislocation of patella syndrome'), +('262941','Partial duplication of chromosome 14q'), +('262941','Partial trisomy of chromosome 14q'), +('262941','Partial trisomy of the long arm of chromosome 14'), +('262932','Partial duplication of chromosome 13q'), +('262932','Partial trisomy of chromosome 13q'), +('262932','Partial trisomy of the long arm of chromosome 13'), +('262842','Partial duplication of chromosome 2q'), +('262842','Partial trisomy of chromosome 2q'), +('262842','Partial trisomy of the long arm of chromosome 2'), +('262851','Partial duplication of chromosome 3q'), +('262851','Partial trisomy of chromosome 3q'), +('262833','Partial duplication of chromosome 1q'), +('262833','Partial trisomy of chromosome 1q'), +('262833','Partial trisomy of the long arm of chromosome 1'), +('262878','Partial duplication of chromosome 6q'), +('262878','Partial trisomy of chromosome 6q'), +('262878','Partial trisomy of the long arm of chromosome 6'), +('262887','Partial duplication of chromosome 7q'), +('262887','Partial trisomy of chromosome 7q'), +('262887','Partial trisomy of the long arm of chromosome 7'), +('262860','Partial duplication of chromosome 4q'), +('262860','Partial trisomy of chromosome 4q'), +('262860','Partial trisomy of the long arm of chromosome 4'), +('3123','Brittle hair-mental deficiency syndrome'), +('3123','Trichothiodystrophy type B'), +('262869','Partial duplication of chromosome 5q'), +('262869','Partial duplication of the long arm of chromosome 5'), +('262869','Partial trisomy of chromosome 5q'), +('262767','Partial duplication of chromosome 9p'), +('262767','Partial duplication of the short arm of chromosome 9'), +('262767','Partial trisomy of chromosome 9p'), +('262776','Partial duplication of chromosome 10p'), +('262776','Partial trisomy of chromosome 10p'), +('262776','Partial trisomy of the short arm of chromosome 10'), +('2909','Poikiloderma of Rothmund-Thomson'), +('2909','RTS'), +('262749','Partial duplication of chromosome 7p'), +('262749','Partial trisomy of chromosome 7p'), +('262749','Partial trisomy of the short arm of chromosome 7'), +('262758','Partial duplication of chromosome 8p'), +('262758','Partial trisomy of chromosome 8p'), +('262758','Partial trisomy of the short arm of chromosome 8'), +('262803','Partial duplication of chromosome 17p'), +('262803','Partial trisomy of chromosome 17p'), +('262803','Partial trisomy of the short arm of chromosome 17'), +('262812','Partial duplication/triplication of chromosome 18p'), +('262812','Partial duplication/triplication of the short arm of chromosome 18'), +('262812','Partial trisomy/tetrasomy of chromosome 18p'), +('3115','Hereditary areflexic dystasia, Roussy-Lévy type'), +('262785','Partial duplication of chromosome 11p'), +('262785','Partial trisomy of chromosome 11p'), +('262785','Partial trisomy of the short arm of chromosome 11'), +('262794','Partial duplication of chromosome 16p'), +('262794','Partial trisomy of chromosome 16p'), +('262794','Partial trisomy of the short arm of chromosome 16'), +('3101','Myotonia-intellectual disability-skeletal anomalies syndrome'), +('262687','Partial trisomy of chromosome 19'), +('3102','Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome'), +('3102','Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome'), +('262682','Partial duplication/triplication of chromosome 18'), +('3104','Pierre Robin sequence-oligodactyly syndrome'), +('262698','Partial duplication of chromosome 2p'), +('262698','Partial trisomy of chromosome 2p'), +('3105','Saal-Greenstein syndrome'), +('262692','Partial duplication of chromosome 20'), +('262716','Partial duplication of chromosome 4p'), +('262716','Partial trisomy of chromosome 4p'), +('262716','Partial trisomy of the short arm of chromosome 4'), +('262707','Partial duplication of chromosome 3p'), +('262707','Partial trisomy of chromosome 3p'), +('262707','Partial trisomy of the short arm of chromosome 3'), +('262740','Partial duplication of chromosome 6p'), +('262740','Partial trisomy of chromosome 6p'), +('262740','Partial trisomy of the short arm of chromosome 6'), +('262725','Partial duplication/triplication of chromosome 5p'), +('262725','Partial duplication/triplication of the short arm of chromosome 5'), +('262725','Partial trisomy/tetrasomy of chromosome 5p'), +('3109','MRKH syndrome'), +('3109','Rokitansky syndrome'), +('262643','Partial duplication/triplication of chromosome 9'), +('262638','Partial trisomy of chromosome 8'), +('3086','ADVIRC'), +('262653','Partial trisomy of chromosome 11'), +('3088','Dyskeratosis congenita with bilateral exudative retinopathy'), +('3088','Retinopathy-anemia-central nervous system anomalies syndrome'), +('3088','Revesz-DeBuse syndrome'), +('262648','Partial trisomy of chromosome 10'), +('3090','Congenital pulmonary venous connection anomaly'), +('262658','Partial duplication/triplication of chromosome 12p'), +('262658','Partial duplication/triplication of the short arm of chromosome 12'), +('262658','Partial trisomy/tetrasomy of chromosome 12p'), +('3097','Meacham-Winn-Culler syndrome'), +('3097','Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome'), +('262677','Partial trisomy of chromosome 17'), +('262672','Partial trisomy of chromosome 16'), +('262182','Partial deletion of chromosome 22q'), +('262182','Partial monosomy of chromosome 22q'), +('262182','Partial monosomy of the long arm of chromosome 22'), +('262191','Partial trisomy of chromosome 1'), +('262196','Partial trisomy of chromosome 2'), +('262201','Partial trisomy of chromosome 3'), +('262206','Partial trisomy of chromosome 4'), +('3077','Lindsay-Burn syndrome'), +('3077','PPM-X'), +('262211','Partial duplication/triplication of chromosome 5'), +('262628','Partial trisomy of chromosome 6'), +('3080','Wolff-Zimmermann syndrome'), +('262633','Partial trisomy of chromosome 7'), +('3079','Mutchinick syndrome'), +('262110','Partial deletion of chromosome 14q'), +('262110','Partial monosomy of chromosome 14q'), +('262110','Partial monosomy of the long arm of chromosome 14'), +('3063','Snyder-Robinson syndrome'), +('262119','Partial deletion of chromosome 15q'), +('262119','Partial monosomy of chromosome 15q'), +('262119','Partial monosomy of the long arm of chromosome 15'), +('262128','Partial deletion of chromosome 16q'), +('262128','Partial monosomy of chromosome 16q'), +('262128','Partial monosomy of the long arm of chromosome 16'), +('262137','Partial deletion of chromosome 17q'), +('262137','Partial monosomy of chromosome 17q'), +('262137','Partial monosomy of the long arm of chromosome 17'), +('262146','Partial deletion of chromosome 18q'), +('262146','Partial monosomy of chromosome 18q'), +('262146','Partial monosomy of the long arm of chromosome 18'), +('3068','Chudley-Rozdilsky syndrome'), +('262155','Partial deletion of chromosome 19q'), +('262155','Partial monosomy of chromosome 19q'), +('262155','Partial monosomy of the long arm of chromosome 19'), +('262164','Partial deletion of chromosome 20q'), +('262164','Partial monosomy of chromosome 20q'), +('262164','Partial monosomy of the long arm of chromosome 20'), +('262173','Partial deletion of chromosome 21q'), +('262173','Partial monosomy of chromosome 21q'), +('262173','Partial monosomy of the long arm of chromosome 21'), +('2886','Pierre Robin sequence-congenital heart defect-talipes syndrome'), +('2886','Pierre Robin syndrome-congenital heart defect-talipes syndrome'), +('2886','Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome'), +('268861','Primary tethered spinal cord syndrome'), +('2885','Telfer-Sugar-Jaeger syndrome'), +('2879','Al Awadi-Raas-Rothschild syndrome'), +('2879','Aplasia/hypoplasia of limbs and pelvis'), +('2879','Congenital absence of ulna and fibula'), +('2879','Severe limb deficit'), +('2878','Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome'), +('2878','Stoll-Lévy-Francfort syndrome'), +('2895','Microphthalmia-intellectual disability syndrome'), +('268920','Isolated macrencephaly'), +('268882','Arnold-Chiari malformation type 1'), +('268882','Chiari malformation type 1'), +('268882','Chiari malformation type I'), +('2892','Euhidrotic ectodermal dysplasia'), +('2892','Kopysc-Barczyk-Krol syndrome'), +('2889','Twisted hair'), +('2888','Chitayat-Meunier-Hodgkinson syndrome'), +('2888','Pierre Robin sequence-faciodigital anomaly syndrome'), +('2865','Al Gazali-Aziz-Salem syndrome'), +('2866','Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome'), +('2866','Thong-Douglas-Ferrante syndrome'), +('2863','Stratton-Parker syndrome'), +('2861','D`Ercole syndrome'), +('2860','Short stature-hyperkaliemia-acidosis syndrome'), +('2876','Powell-Chandra-Saal syndrome'), +('2872','Craniosynostosis-congenital heart disease-intellectual disability syndrome'), +('2872','Pfeiffer-Singer-Zschiesche syndrome'), +('2872','Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis'), +('2867','Mievis-Verellen-Dumoulin syndrome'), +('2848','Arthropathy-camptodactyly syndrome'), +('2848','CACP syndrome'), +('2848','Jacobs syndrome'), +('2848','Pericarditis-arthropathy-camptodactyly syndrome'), +('2838','Renal caliceal diverticuli-hearing loss syndrome'), +('2840','Ray-Peterson-Scott syndrome'), +('2839','Kosenow syndrome'), +('2839','Scapuloiliac dysostosis'), +('268337','RI-CMT'), +('2855','XX gonodal dysgenesis-deafness syndrome'), +('2855','XX gonodal dysgenesis-hearing loss syndrome'), +('2854','Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome'), +('2854','Fuhrmann-Rieger-de Sousa syndrome'), +('708','Peters congenital glaucoma'), +('2850','Perniola-Krajewska-Carnevale syndrome'), +('2853','Exner syndrome'), +('268114','RALD'), +('2825','Poikiloderma-alopecia-retrognathism-cleft palate syndrome'), +('268139','Orbital medulloepithelioma'), +('2819','Bahemuka-Brown syndrome'), +('2820','Fitzsimmons-Walson-Mellor syndrome'), +('2820','Spastic paraplegia-nephritis-hearing loss syndrome'), +('2821','Antinolo-Nieto-Borrego syndrome'), +('2822','Nakamura-Osame syndrome'), +('2822','SPG11'), +('2822','Spastic paraplegia-intellectual disability-thin corpus callosum syndrome'), +('2835','Zori-Stalker-Williams syndrome'), +('268261','21q22.13q22.2 microdeletion syndrome'), +('268261','Del(21)(q22.13q22.2)'), +('268261','Monosomy 21q22.13q22.2'), +('2836','Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy'), +('2836','Progressive encephalopathy-optic atrophy syndrome'), +('268249','MMF embryopathy'), +('268162','Intermediate BCKD deficiency'), +('268162','Intermediate MSUD'), +('268162','Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency'), +('2832','Lopes-Gorlin syndrome'), +('268145','Classic BCKD deficiency'), +('268145','Classic MSUD'), +('268145','Classic branched-chain alpha-ketoacid dehydrogenase deficiency'), +('268145','Classic branched-chain ketoaciduria'), +('268184','Thiamine-responsive BCKD deficiency'), +('268184','Thiamine-responsive MSUD'), +('268184','Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency'), +('2834','WSS'), +('2834','Wrinkled skin syndrome'), +('268173','Intermittent BCKD deficiency'), +('268173','Intermittent MSUD'), +('268173','Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency'), +('2969','Cohen-Hayden syndrome'), +('2962','Cutis laxa-corneal clouding-intellectual disability syndrome'), +('2962','Progeroid syndrome, De Barsy type'), +('2972','Stoelinga-de Koomen-Davis syndrome'), +('750','Pseudoachondroplastic dysplasia'), +('750','Pseudoachondroplastic spondyloepiphyseal dysplasia'), +('2976','Patterson pseudoleprechaunism syndrome'), +('2976','Patterson syndrome'), +('2980','Pseudopapilledema-blepharophimosis-hand anomalies syndrome'), +('2978','CIPO'), +('264973','Secondary ILD in childhood and adulthood associated with a systemic vasculitis'), +('264968','Secondary ILD in childhood and adulthood associated with a metabolic disease'), +('2946','Brachydactyly, long thumb type'), +('264955','Histiocytosis X in childhood and adulthood'), +('264955','Langerhans cell granulomatosis in childhood and adulthood'), +('264949','Secondary ILD in childhood and adulthood associated with a systemic disease'), +('2950','TPT-PS syndrome'), +('264992','Genetic ILD'), +('2947','Carnevale-Hernández-del Castillo syndrome'), +('2956','Brachydactyly-scoliosis-carpal fusion syndrome'), +('2956','Prata-Liberal-Goncalves syndrome'), +('740','HGPS'), +('740','Progeria'), +('2959','Mulvihill-Smith syndrome'), +('2957','Preaxial deficiency-postaxial polydactyly-hypospadias syndrome'), +('2958','Prieto-Badia-Mulas syndrome'), +('2924','ADPCLD'), +('2924','Autosomal dominant polycystic liver disease'), +('2924','PCLD'), +('264694','ILD specific to infancy'), +('264699','Secondary ILD specific to childhood associated with a systemic disease'), +('264704','Secondary ILD specific to childhood associated with a connective tissue disease'), +('2926','Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy'), +('2926','Hamanishi-Ueba-Tsuji syndrome'), +('2926','Polyneuropathy-hand defect syndrome'), +('264709','Secondary ILD specific to childhood associated with a systemic vasculitis'), +('264714','Secondary ILD specific to childhood associated with a granulomatous disease'), +('2928','Lundberg syndrome'), +('264719','Secondary ILD specific to childhood associated with a metabolic disease'), +('264724','Histiocytosis X specific to childhood'), +('264724','Langerhans cell granulomatosis specific to childhood'), +('2930','Gastrointestinal polyposis-ectodermal changes syndrome'), +('2930','Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome'), +('264735','ILD specific to adulthood'), +('264740','Primary ILD specific to adulthood'), +('264745','Secondary ILD specific to adulthood associated with a systemic disease'), +('2934','Bonneau syndrome'), +('264750','Histiocytosis X specific to adulthood'), +('264750','Langerhans cell granulomatosis specific to adulthood'), +('264757','ILD in childhood and adulthood'), +('264762','Primary ILD in childhood and adulthood'), +('264930','Primary ILD in childhood and adulthood due to alveolar structure disorder'), +('2941','Bonnemann-Meinecke syndrome'), +('264935','Primary ILD in childhood and adulthood due to alveolar vascular disorder'), +('264944','Secondary ILD in childhood and adulthood'), +('2899','Platyspondyly-amelogenesis imperfecta syndrome'), +('2899','Verloes-Bourguignon syndrome'), +('264431','Partial duplication of chromosome 1p'), +('264431','Partial trisomy of chromosome 1p'), +('2905','Crow-Fukase syndrome'), +('2905','Osteosclerotic myeloma'), +('2905','PEP syndrome'), +('2905','Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome'), +('2905','Takatsuki syndrome'), +('264450','Duplication 8p'), +('2907','Weary syndrome'), +('2911','Poland anomaly'), +('2911','Poland sequence'), +('264580','GSD due to liver phosphorylase kinase deficiency'), +('264580','GSD type 9A'), +('264580','GSD type 9C'), +('264580','GSD type IXa'), +('264580','GSD type IXc'), +('264580','Glycogen storage disease type 9A'), +('264580','Glycogen storage disease type 9C'), +('264580','Glycogen storage disease type IXa'), +('264580','Glycogen storage disease type IXc'), +('264580','Glycogenosis due to liver phosphorylase kinase deficiency'), +('264580','Glycogenosis type 9A'), +('264580','Glycogenosis type 9C'), +('264580','Glycogenosis type IXa'), +('264580','Glycogenosis type IXc'), +('264580','XLG'), +('264656','ILD specific to childhood'), +('264670','Primary ILD specific to childhood due to alveolar structure disorder'), +('2917','Czeizel-Brooser syndrome'), +('264665','Primary ILD specific to childhood'), +('264683','Primary ILD specific to childhood due to alveolar vascular disorder'), +('2919','OFD5'), +('2919','Oral-facial-digital syndrome type 5'), +('2919','Orofaciodigital syndrome, Thurston type'), +('2919','Polydactyly postaxial with median cleft of upper lip'), +('2919','Thurston syndrome'), +('264675','Congenital PAP'), +('264675','Congenital pulmonary alveolar proteinosis'), +('2920','Postaxial polydactyly-intellectual disability syndrome'), +('2921','Pfeiffer-Mayer syndrome'), +('275803','PAH associated with congenital heart disease'), +('275808','PAH associated with HIV infaction'), +('275813','PAH associated with portal hypertension'), +('275813','POPH'), +('275813','Portopulmonary hypertension'), +('1717','Distal duplication 19q'), +('1717','Telomeric duplication 19q'), +('1717','Trisomy 19qter'), +('3377','Distal arthrogryposis type 7'), +('3377','Dutch-Kentucky syndrome'), +('3377','Hecht syndrome'), +('3377','Hecht-Beals syndrome'), +('275823','PAH associated with schistosomiasis'), +('275777','FPAH'), +('275777','Familial pulmonary arterial hypertension'), +('275777','HPAH'), +('275777','Hereditary pulmonary arterial hypertension'), +('275786','Drug- or toxin-induced PAH'), +('275791','PAH associated with another disease'), +('275791','Secondary PAH'), +('3369','Say-Meyer syndrome'), +('275798','PAH associated with connective tissue disease'), +('3363','Long eyelashes-intellectual disability syndrome'), +('3363','Oliver-McFarlane syndrome'), +('3362','Goldstein-Hutt syndrome'), +('275761','LAL deficiency'), +('3366','Non-syndromic metopic craniosynostosis'), +('3365','Hunter-Rudd-Hoffmann syndrome'), +('275766','IPAH'), +('275766','Primary pulmonary arterial hypertension'), +('275729','Rare bleeding disorder due to a constitutional thrombocytopenia'), +('275729','Rare bleeding disorder due to a quantitative platelet defect'), +('275729','Rare coagulopathy due to a constitutional thrombocytopenia'), +('275729','Rare coagulopathy due to a quantitative platelet defect'), +('275729','Rare hemorrhagic disorder due to a quantitative platelet defect'), +('275736','Rare bleeding disorder due to a constitutional thrombopathy'), +('275736','Rare bleeding disorder due to a qualitative platelet defect'), +('275736','Rare coagulopathy due to a constitutional thrombopathy'), +('275736','Rare coagulopathy due to a qualitative platelet defect'), +('275736','Rare hemorrhagic disorder due to a constitutional thrombopathy'), +('3357','Trueb-Burg-Bottani syndrome'), +('3408','Hip dysplasia-enchondromata-ecchondroma syndrome'), +('3409','Intellectual disability-short stature-hand contractures-genital anomalies syndrome'), +('3409','Prader-Willi habitus-osteopenia-camptodactyly syndrome'), +('276161','MEN'), +('3412','Sujansky-Leonard syndrome'), +('276152','MEN4'), +('3391','Ectodermal dysplasia-adrenal cyst syndrome'), +('3391','Tuffli-Laxova syndrome'), +('3404','Renal dysplasia-limb defects syndrome'), +('3404','Renal dysplasia-mesomelia-radiohumeral fusion syndrome'), +('275872','FTD-ALS'), +('275872','FTD-MND'), +('275872','Frontotemporal dementia with amyotrophic lateral sclerosis'), +('3384','Common aorticopulmonary trunk'), +('3384','Common arterial trunk'), +('3384','TAC'), +('275864','bv-FTD'), +('275944','Anti-K HDN'), +('275944','Maternal anti-Kell alloimmunization'), +('3387','Hairy throat syndrome'), +('3387','Tsukahara-Kajii syndrome'), +('275938','HDFN'), +('275938','Hemolytic disease of the fetus and newborn'), +('275837','PH due to lung disease and/or hypoxia'), +('275837','PH owing to lung disease and/or hypoxia'), +('275837','Pulmonary hypertension due to lung disease and/or hypoxia'), +('1723','Mosaic trisomy chromosome 2'), +('1723','Trisomy 2 mosaicism'), +('275828','PAH associated with chronic hemolytic anemia'), +('1724','Mosaic trisomy chromosome 20'), +('1724','Trisomy 20 mosaicism'), +('1747','Mosaic trisomy chromosome 7'), +('1747','Trisomy 7 mosaicism'), +('275844','PH with unclear multifactorial mechanism'), +('3333','Spellacy-Gibbs-Watts syndrome'), +('271832','Genetic mesenchymal tumor'), +('3332','Hypoplastic tibia-polydactyly syndrome'), +('3332','Werner mesomelic syndrome'), +('3329','Aplasia of tibia with split-hand/split-foot deformity'), +('3329','SHFLD syndrome'), +('3329','SHFM associated with aplasia of long bones'), +('3329','Split hand/foot malformation with long bone deficiency'), +('3329','Split-hand/foot malformation associated with aplasia of long bones'), +('3329','TH-SHFM'), +('3329','Tibial hemimelia with split hand/foot malformation'), +('3329','Tibial hemimelia-ectrodactyly syndrome'), +('3328','Holmes-Collins syndrome'), +('3327','Cutler-Bass-Romshe syndrome'), +('3323','Thrombocytopenia-Robin sequence syndrome'), +('3322','Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome'), +('3317','Barnes syndrome'), +('3316','Potter sequence-cleft lip/palate-cardiopathy syndrome'), +('3314','Aseptic necrosis of phalangeal epiphyses'), +('3314','Osteochondrosis of phalangeal epiphyses'), +('3313','Thiele syndrome'), +('3355','Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region'), +('275543','CRASH syndrome'), +('275543','Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome'), +('275543','L1CAM syndrome'), +('3353','Pinheiro-Freire Maia-Miranda syndrome'), +('3354','Alves-dos Santos-Castelo syndrome'), +('3354','Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome'), +('275523','DALD'), +('3351','Kersey syndrome'), +('275517','ALPS with recurrent viral infections'), +('275517','CEDS'), +('275517','Caspase 8 deficiency syndrome'), +('3352','TDO syndrome'), +('3349','Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome'), +('3349','Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome'), +('3350','Neuhauser-Daly-Magnelli syndrome'), +('3344','Anterior bowing of legs with dwarfism'), +('3344','WNS'), +('3344','Weismann-Netter-Stuhl syndrome'), +('3347','Congenital tracheobronchomegaly'), +('3347','Idiopathic tracheobronchomegaly'), +('3347','Tracheobronchomegaly'), +('3342','ATS'), +('3339','Aplasia cutis congenita-epibulbar dermoids syndrome'), +('3339','Oculoectodermal syndrome'), +('271861','Familial TTR-related amyloidosis'), +('271861','Familial transthyretin-related amyloidosis'), +('3338','Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome'), +('3469','Garcia-Lurie syndrome'), +('3469','XK syndrome'), +('3469','XK-aprosencephaly'), +('3472','Cleidocranial dysplasia-micrognathia-absent thumbs syndrome'), +('3471','Azoospermia-sinopulmonary infections syndrome'), +('3319','CAMT'), +('3473','Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome'), +('3473','Laband syndrome'), +('3459','WTS'), +('3459','X-linked intellectual disability-gynecomastia-obesity syndrome'), +('3460','Winchester syndrome'), +('3464','Diabetes-hypogonadism-deafness-intellectual disability syndrome'), +('3464','Diabetes-hypogonadism-hearing loss-intellectual disability syndrome'), +('269553','Genetic brain malformation'), +('3465','Congenital suprabulbar paresis'), +('269564','Genetic syndrome with a CNS malformation as major feature'), +('2749','Oroacral syndrome'), +('3013','Marashi-Gorlin syndrome'), +('3200','Stoll-Alembik-Finck syndrome'), +('1570','De Smet-Fabry-Fryns syndrome'), +('3243','Acute febrile neutrophilic dermatosis'), +('1827','AFND'), +('1827','Acromelic frontonasal dysostosis'), +('1827','Toriello syndrome'), +('268980','FCD type Ib'), +('268987','FCD type Ic'), +('3423','Hypogonadism-gynecomastia-X-linked intellectual disability syndrome'), +('268973','FCD type Ia'), +('269008','FCD type IIb'), +('3433','Viljoen-Kallis-Voges syndrome'), +('268994','Cortical dysplasia, Taylor type'), +('268994','FCD type II'), +('268994','Isolated focal cortical dysplasia type 2'), +('3429','Cleft lip-limb and heart malformations syndrome'), +('269001','FCD type IIa'), +('2460','Marden-Walker-like syndrome'), +('2460','VDEGS'), +('3416','Hyperphosphatasemia tarda'), +('3416','Van Buchem disease'), +('268926','Midline brain malformation'), +('3421','CRV'), +('3421','Grand-Kaine-Fulling syndrome'), +('268961','FCD type I'), +('268950','Brain cortical dysplasia'), +('3450','Pierre Robin sequence-fetal chondrodysplasia syndrome'), +('3450','Pierre Robin syndrome-fetal chondrodysplasia syndrome'), +('269229','PTCD'), +('3453','APECED syndrome'), +('3453','APS type 1'), +('3453','APS1'), +('3453','Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome'), +('3453','Autoimmune polyendocrine syndrome type 1'), +('3453','Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome'), +('3453','Autoimmune polyglandular syndrome type 1'), +('3453','HAM syndrome'), +('3453','Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome'), +('3453','MEDAC syndrome'), +('3453','Multiple endocrine deficiency-Addison disease-candidiasis syndrome'), +('269224','Diffuse cerebellar malformation'), +('3449','Spherophakia-brachymorphia syndrome'), +('3456','Cervicooculoacoustic syndrome'), +('269510','Congenital obstructive hydrocephalus'), +('3454','Foot contractures-muscle atrophy-oculomotor apraxia syndrome'), +('3454','Wieacker-Wolff syndrome'), +('3455','Neonatal progeroid syndrome'), +('269505','Congenital non-obstructive hydrocephalus'), +('3438','Cholestatic jaundice-renal tubular insufficiency syndrome'), +('3438','Lutz-Richner-Landolt syndrome'), +('3434','MCOPS8'), +('3434','Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome'), +('3434','Syndromic microphthalmia type 8'), +('3434','Viljoen-Smart syndrome'), +('280315','AIP type 2'), +('280315','Duct-centric pancreatitis'), +('3181','High scapula'), +('280302','AIP type 1'), +('280302','IgG4-related pancreatitis'), +('280302','Lymphoplasmacytic sclerosing pancreatitis'), +('280333','Alpha-dystroglycan-related LGMD R16'), +('280333','Autosomal recessive limb-girdle muscular dystrophy type 2P'), +('280333','LGMD type 2P'), +('280333','LGMD2P'), +('280333','Limb-girdle muscular dystrophy type 2P'), +('280325','12p13.33 microdeletion syndrome'), +('280325','Del(12)(p13.33)'), +('280325','Distal deletion 12p'), +('280288','Mitochondrial HSP60 chaperonopathy'), +('3194','CDO syndrome'), +('3194','Stern-Lubinsky-Durrie syndrome'), +('3197','Congenital stiff man syndrome'), +('3197','Familial startle disease'), +('3197','Hereditary hyperexplexia'), +('3197','Kok disease'), +('3197','Stiff baby syndrome'), +('3186','Steinfeld syndrome'), +('3191','Onat syndrome'), +('3193','SVAS'), +('280356','FPLD4'), +('280356','PLIN1-related FPLD'), +('3214','Warburg-Thomsen syndrome'), +('3214','Yemenite deaf-blind hypopigmentation syndrome'), +('280400','Familial prion disease'), +('280400','Genetic human prion disease'), +('3213','Jensen syndrome'), +('3213','hearing loss-opticoacoustic nerve atrophy-dementia syndrome'), +('280406','Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss'), +('3215','Davenport-Donlan syndrome'), +('3201','Stoll-Kieny-Dott syndrome'), +('280384','IDMDC'), +('3212','Autosomal dominant optic atrophy and congenital hearing loss'), +('3212','Konigsmark-Knox-Hussels syndrome'), +('280576','NGPS'), +('3220','Hearing loss-enamel hypoplasia-nail defects syndrome'), +('3220','Heimler syndrome'), +('3219','Deafness-skeletal dysplasia-coarse face with full lips syndrome'), +('3219','Deafness-skeletal dysplasia-lip granuloma syndrome'), +('3219','Hearing loss-skeletal dysplasia-coarse face with full lips syndrome'), +('3219','Hearing loss-skeletal dysplasia-lip granuloma syndrome'), +('3222','PRPP synthetase superactivity'), +('3222','PRPS1 superactivity'), +('280586','gPAPP deficiency'), +('3221','Deafness-thyroid hormone resistance syndrome'), +('3221','Hearing loss-thyroid hormone resistance syndrome'), +('3221','Refetoff syndrome'), +('3217','Groll-Hirschowitz syndrome'), +('3217','Hearing loss-small bowel diverticulosis-neuropathy syndrome'), +('280558','WABS'), +('3216','Conductive hearing loss-malformed external ear syndrome'), +('3216','Mengel-Konigsmark syndrome'), +('3218','Chitty-Hall-Baraitser syndrome'), +('3218','Hearing loss-epiphyseal dysplasia-short stature syndrome'), +('280569','Crescentic glomerulonephritis'), +('280569','RPGN'), +('647','AT V1'), +('647','Ataxia-telangiectasia, variant 1'), +('647','Berlin breakage syndrome'), +('647','Immunodeficiency-microcephaly-chromosomal instability syndrome'), +('647','Microcephaly-immunodeficiency-lymphoreticuloma syndrome'), +('647','NBS'), +('647','Seemanova syndrome type 2'), +('279947','POIS'), +('3152','Cortical hyperostosis-syndactyly syndrome'), +('280142','SCID due to LCK deficiency'), +('280142','SCID due to lymphocyte-specific protein tyrosine kinase deficiency'), +('280142','Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency'), +('3168','Brachydactyly-symphalangism syndrome'), +('280133','C3 deficiency'), +('3163','Lipodystrophy-Rieger anomaly-diabetes syndrome'), +('3163','Rieger anomaly-partial lipodystrophy syndrome'), +('280110','Osteitis deformans'), +('3156','Nephronophthisis with retinal dystrophy'), +('3156','Renal dysplasia-retinal aplasia syndrome'), +('3156','SLSN'), +('280071','CDG syndrome type Ip'), +('280071','CDG-Ip'), +('280071','CDG1P'), +('280071','Carbohydrate deficient glycoprotein syndrome type Ip'), +('280071','Congenital disorder of glycosylation type 1p'), +('280071','Congenital disorder of glycosylation type Ip'), +('3157','De Morsier syndrome'), +('3157','SOD'), +('3157','Septo-optic dysplasia'), +('280210','Connatal PMD'), +('280210','Pelizaeus-Merzbacher disease type II'), +('280210','Severe PMD'), +('280219','Classic PMD'), +('280200','HPE, minor form'), +('280200','HPE-L'), +('280200','Holoprosencephaly, minor form'), +('280200','Holoprosencephaly-like'), +('280200','Microform HPE'), +('3177','Der Kaloustian-Jarudi-Khoury syndrome'), +('280205','LTEC0'), +('280205','Laryngo-tracheo-esophageal cleft type 0'), +('280195','Septopreoptic HPE'), +('280183','Methylmalonic acidemia, TCb1R type'), +('280183','Methylmalonic acidemia, TCbIR type'), +('280282','PMLD1'), +('280270','PMLD'), +('280234','PLP1 null syndrome'), +('280234','Pelizaeus-Merzbacher disease, null syndrome'), +('1855','SPENCD'), +('1855','Spondyloenchondromatosis'), +('1855','Spondylometaphyseal dysplasia with enchondromatous changes'), +('280224','Transitional PMD'), +('1797','Autosomal dominant spondylocostal dysplasia'), +('276580','Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency'), +('276580','Dominant KATP hyperinsulinism due to Kir6.2 deficiency'), +('3258','Cenani syndactyly'), +('3258','Cenani-Lenz syndactyly'), +('3258','Syndactyly type 7'), +('276575','Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency'), +('3262','Syngnathia-multiple anomalies syndrome'), +('276598','Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form'), +('276585','Diazoxide-resistant hyperinsulinemic hypoglycemia'), +('276608','NIPHS'), +('3265','Humero-radial fusion'), +('276603','Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form'), +('3266','Humero-radio-ulnar fusion'), +('3268','Giuffré-Tsukahara syndrome'), +('3268','Tsukahara syndrome'), +('3270','Der Kaloustian-McIntosh-Silver syndrome'), +('3274','Autoinflammatory granulomatosis of childhood'), +('3274','Granulomatous inflammatory arthritis, dermatitis, and uveitis'), +('3274','Granulomatous synovitis-uveitis syndrome'), +('3274','PGA'), +('3274','Pediatric granulomatous arthritis'), +('3275','Synspondylism'), +('425','ApoA-I deficiency'), +('425','Familial apoA-I deficiency'), +('425','Familial hypoalphalipoproteinemia'), +('3294','Hapnes-Boman-Skeie syndrome'), +('3301','Zimmer phocomelia'), +('279897','Primary oculocerebral non-Hodgkin lymphoma'), +('279904','PIOL'), +('279904','Primary intraocular non-Hodgkin lymphoma'), +('3304','Bindewald-Ulmer-Müller syndrome'), +('3312','Fetal thalidomide syndrome'), +('279914','IU'), +('276198','Asidan'), +('276198','SCA36'), +('3225','Tungland-Bellman syndrome'), +('276193','SCA35'), +('3226','Emberger syndrome'), +('3226','Hearing loss-lymphedema-leukemia syndrome'), +('276183','Cerebellar ataxia with azoospermia and intellectual disability'), +('276183','SCA32'), +('3224','Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome'), +('3224','Pfeiffer-Kapferer syndrome'), +('276238','SCA3, Joseph type'), +('276238','Spinocerebellar ataxia type 3, Joseph type'), +('276234','Non-syndromic male infertility due asthenozoospermia'), +('276223','Arylsulfatase B deficiency, slowly progressing'), +('276223','MPS6, slowly progressing'), +('276223','MPSVI, slowly progressing'), +('276223','Mucopolysaccharidosis type VI, slowly progressing'), +('3228','Neurosensory hearing loss-pituitary dwarfism syndrome'), +('3228','Winkelmann-Bethge-Pfeiffer syndrome'), +('276212','Arylsulfatase B deficiency, rapidly progressing'), +('276212','MPS6, rapidly progressing'), +('276212','MPSVI, rapidly progressing'), +('276212','Mucopolysaccharidosis type VI, rapidly progressing'), +('276252','XPB'), +('3230','Hearing loss-oligodontia syndrome'), +('276249','XPA'), +('3231','Hearing loss-onychodystrophy syndrome'), +('276244','SCA3, Machado type'), +('276244','Spinocerebellar ataxia type 3, Machado type'), +('276241','SCA3, Thomas type'), +('276241','Spinocerebellar ataxia, Thomas type'), +('3235','Progressive hearing loss with stapes fixation'), +('3235','Stapedo-vestibular ankylosis'), +('3235','Thies-Reis syndrome'), +('276264','XPF'), +('276261','XPE'), +('3236','Conductive hearing loss-ptosis-skeletal anomalies syndrome'), +('3236','Jackson-Barr syndrome'), +('276258','XPD'), +('3232','Hearing loss-ear malformation-facial palsy syndrome'), +('3232','Sellars-Beighton syndrome'), +('276255','XPC'), +('3241','Hearing loss-craniofacial syndrome'), +('276280','HHML'), +('276399','FMNG'), +('276399','Familial MNG'), +('3239','Hearing loss-vitiligo-achalasia syndrome'), +('276267','XPG'), +('3238','Forney syndrome'), +('3238','Forney-Robinson-Pascoe syndrome'), +('3238','Mitral regurgitation-deafness-skeletal anomalies syndrome'), +('3238','Mitral regurgitation-hearing loss-skeletal anomalies syndrome'), +('276271','Analbuminemia'), +('276271','Bisalbuminemia'), +('276271','FDH'), +('3237','Deafness-Hermann type symphalangism syndrome'), +('3237','Facio-audio-symphalangism'), +('3237','Hearing loss-Hermann type symphalangism syndrome'), +('3237','Symphalangism-brachydactyly syndrome'), +('3237','WL syndrome'), +('3246','Learman syndrome'), +('276413','Del(10)(q22.3q23.3)'), +('276413','Deletion 10q22.3q23.3'), +('276413','Monosomy 10q22.3q23.3'), +('3242','X-linked intellectual disability due to PQBP1 mutations'), +('3242','X-linked intellectual disability, Renpenning type'), +('276405','Green jaundice'), +('3250','Symphalangism, Cushing type'), +('276422','Dup(10)(q22.3q23.3)'), +('276422','Trisomy 10q22.3q23.3'), +('276525','FHI'), +('276525','Familial hyperinsulinemic hypoglycemia'), +('3255','Type 1 syndactyly-microcephaly-intellectual disability syndrome'), +('276556','Hyperinsulinemic hypoglycemia due to UCP2 deficiency'), +('276432','Premature aging appearance-developmental delay-cardiac arrhythmia syndrome'), +('3253','CLPED1'), +('3253','Cleft lip/palate-syndactyly-pili torti syndrome'), +('3253','Syndactyly-ectodermal dysplasia-cleft/lip palate'), +('3253','Zlotogora-Zilberman-Tenenbaum syndrome'), +('276435','SMAJ'), +('276435','Spinal muscular atrophy, Jokela type'), +('911','Zeta-associated-protein 70 deficiency'), +('3325','HAT'), +('3325','HIT'), +('3325','Heparin-associated thrombocytopenia'), +('3325','Heparin-induced thrombocytopenia type 2'), +('746','TFP deficiency'), +('746','TFPD'), +('943','Malonyl-CoA decarboxylase deficiency'), +('621','Autosomal recessive methemoglobinemia'), +('621','Congenital methemoglobinemia'), +('1002','CH'), +('1002','Ciliary neuralgia'), +('1002','Cluster migraine'), +('1002','Erythromelalgia of the head'), +('1002','Erythroprosopalgia of Bing'), +('1002','Histamine cephalalgia'), +('1002','Histamine headache'), +('1002','Histaminic cephalalgia'), +('1002','Horton headache'), +('1002','Migrainous neuralgia'), +('1002','Red migraine'), +('2089','GSD due to hepatic glycogen synthase deficiency'), +('2089','GSD type 0a'), +('2089','Glycogen storage disease due to liver glycogen synthase deficiency'), +('2089','Glycogen storage disease type 0a'), +('2089','Glycogenosis type 0a'), +('412','Broad-beta disease'), +('412','Familial dyslipidemia type 3'), +('412','HLP type 3'), +('412','Hyperlipidemia type 3'), +('412','Hyperlipoproteinemia type 3'), +('412','Remnant hyperlipoproteinemia'), +('743','Autosomal recessive thrombophilia due to congenital protein S deficiency'), +('424','Familial non-immune hyperthyroidism'), +('424','Resistance to thyroid stimulating hormone'), +('325','Dysprothrombinemia'), +('325','Hypoprothrombinemia'), +('325','Prothrombin deficiency'), +('343','HIDS'), +('343','Hyper-IgD syndrome'), +('343','Hyperimmunoglobinemia D with recurrent fever'), +('343','Hyperimmunoglobulinemia D syndrome'), +('343','Partial mevalonate kinase deficiency'), +('572','Bare lymphocyte syndrome type 2'), +('572','MHC class II deficiency'), +('1930','HSE'), +('1930','HSV encephalitis'), +('1930','HSVE'), +('1930','Herpes simplex meningo-encephalitis'), +('1930','Herpes simplex neuroinvasion'), +('1930','Herpetic encephalitis'), +('158','CDSP'), +('158','CUD'), +('158','Carnitine transporter defect'), +('158','Carnitine uptake deficiency'), +('158','Deficiency of plasma-membrane carnitine transporter'), +('158','SPCD'), +('202948','Syndromic microphthalmia'), +('2056','Fructokinase deficiency'), +('2056','Ketohexokinase deficiency'), +('206436','Krabbe disease, classic form'), +('206436','Krabbe disease, early-onset'), +('820','Ehrmann-Sneddon syndrome'), +('820','Livedo racemosa-cerebrovascular accident syndrome'), +('820','Livedo reticularis-cerebrovascular accident syndrome'), +('206428','HPRT deficiency'), +('206428','HPRT1 deficiency'), +('206428','Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency'), +('1945','BECRS'), +('1945','BECTS'), +('1945','BRE'), +('1945','Benign epilepsy of childhood with centrotemporal spikes'), +('1945','Benign familial epilepsy of childhood with rolandic spikes'), +('1945','Benign rolandic epilepsy'), +('1945','Centrotemporal epilepsy'), +('832','OXCT1 deficiency'), +('832','SCOT deficiency'), +('832','Succinyl-CoA acetoacetate transferase deficiency'), +('832','Succinyl-CoA:3-oxoacid CoA transferase deficiency'), +('6','3-methylcrotonylglycinuria'), +('6','MCC deficiency'), +('6','MCCD'), +('20','3-hydroxy-3-methylglutaryl-CoA lyase deficiency'), +('20','HMG-CoA lyase deficiency'), +('20','Hydroxymethylglutaric aciduria'), +('1129','Kosztolanyi syndrome'), +('1383','Cataract-hearing loss-hypogonadism syndrome'), +('1383','Schaap-Taylor-Baraitser syndrome'), +('206538','Non-dysgerminomatous germ cell cancer of ovary'), +('206554','Autosomal recessive LGMD type 2M'), +('206554','Autosomal recessive limb-girdle muscular dystrophy type 2M'), +('206554','Fukutin-related LGMD R13'), +('206554','LGMD type 2M'), +('206554','LGMD2M'), +('206549','Anoctamin-5-related LGMD R12'), +('206549','Autosomal recessive limb-girdle muscular dystrophy type 2L'), +('206549','LGMD type 2L'), +('206549','LGMD2L'), +('206549','Limb-girdle muscular dystrophy type 2L'), +('1123','Caudal appendage-hearing loss syndrome'), +('1123','Lynch-Lee-Murday syndrome'), +('206564','Autosomal recessive limb-girdle muscular dystrophy type 2O'), +('206564','LGMD type 2O'), +('206564','LGMD2O'), +('206564','Limb-girdle muscular dystrophy type 2O'), +('206564','POMGNT1-related LGMD R15'), +('206559','Autosomal recessive limb-girdle muscular dystrophy type 2N'), +('206559','LGMD type 2N'), +('206559','LGMD2N'), +('206559','Limb-girdle muscular dystrophy type 2N'), +('206559','POMT2-related LGMD R14'), +('206572','Adult-onset overlap myositis'), +('206572','Non-specific myositis'), +('206569','Anti-HMG-CoA myopathy'), +('206569','Anti-SRP myopathy'), +('206569','Autoimmune necrotizing myositis'), +('206569','IMNM'), +('206569','Immune myopathy with myocyte necrosis'), +('206569','NAM'), +('206580','Autosomal recessive distal spinal muscular atrophy type 4'), +('206580','Distal spinal muscular atrophy type 4'), +('206580','dSMA4'), +('206575','Acquired rippling muscle disease'), +('206575','Immune-mediated rippling muscle disease'), +('206443','Krabbe disease, late-onset'), +('3439','DK phocomelia syndrome'), +('3439','Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome'), +('206470','Cystadenoma of ovary in childhood'), +('1217','Hamano-Tsukamoto syndrome'), +('206473','Borderline ovarian epithelial tumor'), +('206473','Ovarian tumor of low malignant potential'), +('1681','Craniofacial duplication'), +('1681','Diprosopia'), +('206489','Vaginal germ cell cancer'), +('206489','Vaginal germ cell malignant tumor'), +('1534','Imaizumi-Kuroki syndrome'), +('1655','Urioste syndrome'), +('633','Complete growth hormone insensitivity'), +('633','GH receptor deficiency'), +('633','Growth hormone receptor deficiency'), +('633','Laron-type dwarfism'), +('633','Primary GH insensitivity'), +('633','Primary GH resistance'), +('633','Primary growth hormone insensitivity'), +('633','Primary growth hormone resistance'), +('633','Short stature due to growth hormone resistance'), +('478','Congenital hypogonadotropic hypogonadism with anosmia'), +('478','Olfacto-genital pathological sequence'), +('822','Minkowski-Chauffard disease'), +('229','Annuloaortic ectasia'), +('229','Cystic medial necrosis of aorta'), +('206959','Glycogen storage myopathy'), +('206953','Lipid storage myopathy'), +('766','Pyruvate kinase deficiency of erythrocytes'), +('411','HLP type 1'), +('28','Adenosylcobalamin deficiency'), +('28','Vitamin B12-responsive methylmalonic aciduria'), +('206594','Subacute inflammatory demyelinating polyradiculoneuropathy'), +('206599','Idiopathic asymptomatic hyperCKemia'), +('206599','Isolated asymptomatic hyperCKemia'), +('3206','Neonatal Schwartz-Jampel syndrome'), +('3206','SJS2'), +('3206','Schwartz-Jampel syndrome type 2'), +('3206','Stüve-Wiedemann dysplasia'), +('206583','APBD'), +('65','Amaurosis congenita of Leber'), +('321','Bessel-Hagen disease'), +('321','Multiple cartilaginous exostoses'), +('110','BBS'), +('207085','Dystrophinopathy'), +('2756','Figuera syndrome'), +('2756','OFD10'), +('2756','Oral-facial-digital syndrome type 10'), +('2756','Orofaciodigital syndrome with fibular aplasia'), +('3095','Atypical RTT'), +('3095','Rett syndrome variant'), +('207094','LAMA2-related muscular dystrophy'), +('207094','Qualitative or quantitative defects of merosin'), +('207098','Integrinopathy'), +('378','Sicca syndrome'), +('378','Sjögren-Gougerot syndrome'), +('1130','De Die-Smulders-Vles-Fryns syndrome'), +('207073','Dysferlinopathy'), +('2626','Blethen-Wenick-Hawkins syndrome'), +('207078','Caveolinopathy'), +('3207','Curatolo-Cilio-Pessagno syndrome'), +('207052','Sarcoglycanopathy'), +('2244','Kaplowitz-Bodurtha syndrome'), +('207038','Acute and subacute inflammatory demyelinating polyradiculoneuropathy'), +('1192','Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome'), +('1192','Feigenbaum-Bergeron-Richardson syndrome'), +('2062','Copenhagen syndrome'), +('2015','Mathieu-De Broca-Bony syndrome'), +('2427','Volcke-Soekarman syndrome'), +('2898','Hyde Forster-McCarthy-Berry syndrome'), +('1474','Hittner-Hirsch-Kreh syndrome'), +('1789','Van Biervliet-Hendrickx-van Ertbruggen syndrome'), +('2349','Hoffmann syndrome'), +('2349','Kocher-Debré-Semelaigne syndrome'), +('1423','Maroteaux-Stanescu-Cousin syndrome'), +('2183','Sengers-Hamel-Otten syndrome'), +('208999','Paraneoplastic sensory neuronopathy'), +('3271','Buntinx-Lormans-Martin syndrome'), +('208989','Non-paraneoplastic sensory neuronopathy'), +('208994','Other neuronopathy related to autoimmune diseases'), +('208984','Acquired sensory neuronopathy'), +('1894','Kasznica-Carlson-Coppedge syndrome'), +('208974','CADP'), +('1101','Cassia Stocco dos Santos syndrome'), +('208600','Cardiac papillary fibroelastoma'), +('2184','Palmer-Pagon syndrome'), +('208650','CAPS'), +('208650','Cryopyrinopathy'), +('208650','NLRP3-associated systemic autoinflammatory disease'), +('1272','Brachycephaly-deafness-cataract-intellectual disability syndrome'), +('1272','Brachycephaly-hearing loss-cataract-intellectual disability syndrome'), +('1272','Fine-Lubinsky syndrome'), +('208513','Congenital nonprogressive spinocerebellar ataxia'), +('208513','SCA29'), +('3331','Chitty-Hall-Webb syndrome'), +('1485','Johnston-Aarons-Schelley syndrome'), +('208508','ADCA2'), +('208508','ADCAII'), +('208508','Autosomal dominant cerebellar ataxia type 2'), +('3051','Nicolaides-Baraitser syndrome'), +('1134','Isolated nose agenesis'), +('1768','Rudd-Klimek syndrome'), +('2204','Kozlowski-Tsuruta syndrome'), +('207113','Secondary alpha-dystroglycanopathy'), +('207113','Secondary dystroglycanopathy'), +('2963','Fontaine progeroid syndrome'), +('2963','Petty syndrome'), +('2963','Petty-Laxova-Wiedemann syndrome'), +('2619','Mseleni joint disease'), +('1541','Craniosynostosis, Warman type'), +('1541','Warman-Mulliken-Hayward syndrome'), +('1415','Hardikar syndrome'), +('2653','Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome'), +('2653','Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome'), +('2653','Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome'), +('209335','Autosomal dominant adult-onset proximal SMA'), +('209335','Autosomal dominant late-onset spinal muscular atrophy, Finkel type'), +('209335','Finkel disease'), +('209335','SMAFK'), +('209341','DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy'), +('209341','SMALED1'), +('209224','Qualitative or quantitative defects of myotilin'), +('1277','Stratton-Garcia-Young syndrome'), +('2547','Thomas-Jewett-Raines syndrome'), +('1778','Seaver-Cassidy syndrome'), +('3074','Stoll-Géraudel-Chauvin syndrome'), +('2649','Richieri Costa-Guion Almeida syndrome'), +('1258','Rodini-Richieri Costa syndrome'), +('209024','Qualitative or quantitative defects of protein POMGNT1'), +('489','Thyroglossal tract cyst'), +('210110','Autosomal recessive intermediate osteopetrosis'), +('210115','Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency'), +('210115','DIRA'), +('210115','Interleukin-1 receptor antagonist deficiency'), +('210115','OMPP'), +('1884','Noble-Bass-Sherman syndrome'), +('209981','Iron-refractory iron deficiency anemia'), +('209989','Non-papillary urothelial carcinoma'), +('1459','CEC'), +('3360','Katsantoni-Papadakou Lagoyanni syndrome'), +('210122','ACDMPV'), +('210122','Alveolar capillary dysplasia with misalignment of pulmonary veins'), +('210122','Alveolar capillary dysplasia with misalignment of pulmonary vessels'), +('210128','Encephalopathy due to urocanase deficiency'), +('2254','Norman disease'), +('2254','PCH1'), +('209959','Endophthalmitis phacoanaphylactica'), +('209959','Lens-induced endophthalmitis'), +('209959','Lens-induced iridocyclitis'), +('209959','Lens-induced uveitis'), +('209959','Phacoallergic endophthalmitis'), +('209959','Phacoantigenic endophthalmitis'), +('209959','Phako-anaphylactic endophthalmitis'), +('209951','SPG18'), +('2795','Fowler syndrome'), +('2795','Fowler-Christmas-Chapple syndrome'), +('209908','CAS'), +('209908','Developmental verbal dyspraxia'), +('209908','Speech and language disorder with orofacial dyspraxia'), +('209908','Speech-language disorder type 1'), +('209905','Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome'), +('2458','Opitz-Reynolds-FitzGerald syndrome'), +('209893','Congenital isolated TBG deficiency'), +('209943','Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome'), +('209932','Cone dystrophy with supernormal rod ERG'), +('209932','Cone dystrophy with supernormal rod electroretinogram'), +('209932','Cone dystrophy with supernormal scotopic electroretinogram'), +('209919','Non-Wilsonian hepatic copper toxicosis of infancy and childhood'), +('1434','CHM-hypopituitarism syndrome'), +('1492','Ben Ari-Shuper-Mimouni syndrome'), +('209370','Severe congenital encephalopathy due to MECP2 mutation'), +('209886','FJHN type 1'), +('209886','Familial juvenile gouty nephropathy'), +('209886','Familial nephropathy with gout'), +('209886','UMOD-associated FJHN'), +('209886','UMOD-associated familial juvenile hyperuricemic nephropathy'), +('210566','DYT15'), +('210566','Myoclonus-dystonia type 15'), +('210571','DYT16'), +('210571','Early-onset dystonia parkinsonism'), +('3286','Bidirectional tachycardia induced by catecholamine'), +('3286','CPVT'), +('3286','Double tachycardia induced by catecholamines'), +('3286','Malignant paroxysmal ventricular tachycardia'), +('3286','Multifocal ventricular premature beats'), +('210272','Disembarkment syndrome'), +('210272','MdD'), +('210272','MdDS'), +('210272','Sickness of disembarkment'), +('210159','Adult HCC'), +('3283','JET'), +('3283','Junctional ectopic tachycardia'), +('3240','Central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome'), +('3240','Yoshimura-Takeshita syndrome'), +('210141','Inherited congenital spastic quadriplegia'), +('210584','Spindle cell hemangioendothelioma'), +('2023','UPS'), +('210576','Congenital trismus'), +('599','Distal muscular dystrophy'), +('1063','Nakagawa angioblastoma'), +('211053','Dysphasia'), +('211047','Specific learning difficulty'), +('211047','Specific learning disorder'), +('2583','Madura foot'), +('1685','Distomiasis'), +('1685','Fluke infection'), +('211017','SCA30'), +('656','Familial idiopathic steroid-resistant nephrotic syndrome'), +('656','Genetic SRNS'), +('656','Hereditary steroid-resistant nephrotic syndrome'), +('211277','Hemangiolymphangioma'), +('2415','LM'), +('2415','Lymphangioma'), +('35','Ketotic hyperglycinemia'), +('35','Propionic aciduria'), +('35','Propionyl-CoA carboxylase deficiency'), +('407','NKA'), +('407','Non-ketotic hyperglycinemia'), +('2968','LAD'), +('663','Maternally-inherited CPEO'), +('663','Maternally-inherited chronic progressive external ophthalmoplegia'), +('663','mtDNA-related progressive external ophthalmoplegia'), +('137','CDG'), +('137','Carbohydrate deficient glycoprotein syndrome'), +('220','Drash syndrome'), +('220','Wilms tumor-DSD syndrome'), +('220','Wilms tumor-disorder of sex development syndrome'), +('5','LCHAD deficiency'), +('5','LCHADD'), +('5','Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency'), +('85','CDA'), +('25','GA1'), +('25','GCDHD'), +('25','Glutaric acidemia type 1'), +('25','Glutaric aciduria type 1'), +('25','Glutaryl-coenzyme A dehydrogenase deficiency'), +('177','RCDP'), +('1246','Biemond syndrome'), +('213500','Ovarian malignant tumor'), +('2364','GSD due to lactate dehydrogenase deficiency'), +('2364','Glycogenosis due to lactate dehydrogenase deficiency'), +('2364','LDH deficiency'), +('711','GSD due to phosphoglucomutase deficiency'), +('711','GSD type 14'), +('711','GSDXIV'), +('711','Glycogen storage disease type 14'), +('711','Glycogen storage disease type XIV'), +('711','Glycogenosis due to phosphoglucomutase deficiency'), +('711','Glycogenosis type 14'), +('711','Glycogenosis type XIV'), +('711','Phosphoglucomutase 1 deficiency'), +('818','7-dehydrocholesterol reductase deficiency'), +('818','RSH syndrome'), +('818','SLOS'), +('213512','MMMT of the ovary'), +('213512','Ovarian carcinosarcoma'), +('213512','Ovarian malignant mixed Müllerian tumor'), +('213512','Ovarian malignant mixed epithelial mesenchymal tumor'), +('213504','Ovarian adenocarcinoma'), +('175','Autosomal recessive metaphyseal chondrodysplasia'), +('175','Metaphyseal chondrodysplasia, McKusick type'), +('42','ACADM deficiency'), +('42','Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency'), +('42','MCAD deficiency'), +('42','MCADD'), +('42','Medium chain acyl-coenzyme A dehydrogenase deficiency'), +('213564','Rare cancer of uterus'), +('213564','Rare malignant tumor of uterus'), +('213564','Rare uterine malignant tumor'), +('213557','Salivary gland type carcinoma of the breast'), +('1939','Envenomization by the Martinique lancehead viper'), +('213569','Rare malignant tumor of corpus uteri'), +('213517','Familial ovarian malignant tumor'), +('2066','GABA transaminase deficiency'), +('213610','Malignant mixed Müllerian tumor of the corpus uteri'), +('213610','Mixed Müllerian cancer of corpus uteri'), +('213610','Uterine carcinosarcoma'), +('3161','Congenital bronchopulmonary sequestration'), +('213589','Mixed epithelial and mesenchymal cancer of corpus uteri'), +('860','Congenitally uncorrected transposition of the great vessels'), +('860','D-transposition of the great arteries'), +('860','Dextro-transposition of the great arteries'), +('860','Isolated ventriculoarterial discordance'), +('860','Ventriculoarterial discordance with atrioventricular concordance'), +('185','Congenital pulmonary venolobar syndrome'), +('185','Epibronchial right pulmonary vein syndrome'), +('185','Halasz syndrome'), +('185','Hypogenetic lung syndrome'), +('213630','Malignant peripheral neuroectodermal tumor of the corpus uteri'), +('213630','Peripheral neuroectodermal cancer of the corpus uteri'), +('213721','Endometrial undifferentiated carcinoma'), +('1464','Double inlet left ventricle'), +('213726','Endometrial capillary carcinoma'), +('213711','Stromal sarcoma of the corpus uteri'), +('213716','Endometrial squamous cell carcinoma'), +('213741','Endometrial adenoid cystic carcinoma'), +('213746','Endometrial transitional cell carcinoma'), +('1572','CVID'), +('1572','Idiopathic immunoglobulin deficiency'), +('1572','Primary antibody deficiency'), +('1572','Primary hypogammaglobulinemia'), +('213731','High-grade neuroendocrine carcinoma of the uterine corpus'), +('213731','Poorly differentiated neuroendocrine carcinoma of the corpus uteri'), +('213731','Poorly differentiated neuroendocrine carcinoma of the endometrium'), +('3261','ALPS'), +('3261','Canale-Smith syndrome'), +('213736','Low-grade neuroendocrine tumor of the uterine corpus'), +('213736','Well-differentiated neuroendocrine neoplasm of the endometrium'), +('213736','Well-differentiated neuroendocrine tumor of the corpus uteri'), +('213736','Well-differentiated neuroendocrine tumor of the endometrium'), +('2849','Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome'), +('213772','Cervical adenocarcinoma'), +('213767','Cervical squamous cell carcinoma'), +('213761','Rare cervical cancer'), +('213761','Rare cervical malignant tumor'), +('213761','Rare malignant tumor of cervix uteri'), +('213751','Germ cell cancer of the corpus uteri'), +('213792','Cervical adenosarcoma'), +('213787','Cervical carcinosarcoma'), +('213787','Cervical malignant Müllerian mixed tumor'), +('213787','Malignant Müllerian mixed tumor of the cervix uteri'), +('213782','Cervical malignant mixed epithelial and mesenchymal tumor'), +('213782','Mixed epithelial and mesenchymal cancer of cervix uteri'), +('213777','High-grade neuroendocrine carcinoma of the uterine cervix'), +('213777','Poorly differentiated neuroendocrine carcinoma of the cervix uteri'), +('213777','Poorly differentiated neuroendocrine cervical carcinoma'), +('213812','Cervical malignant peripheral neuroectodermal tumor'), +('213812','Cervical peripheral neuroectodermal cancer'), +('213812','Malignant peripheral neuroectodermal tumor of the cervix uteri'), +('213812','Peripheral neuroectodermal cancer of cervix uteri'), +('747','Autoimmune PAP'), +('747','Idiopathic PAP'), +('747','Idiopathic pulmonary alveolar proteinosis'), +('747','aPAP'), +('747','iPAP'), +('213807','Cervical leiomyosarcoma'), +('213802','Cervical rhabdomyosarcoma'), +('2953','Adducted thumb-clubfoot syndrome'), +('2953','Distal arthrogryposis with peculiar facies and hydronephrosis'), +('2953','Dündar syndrome'), +('2953','Ehlers-Danlos syndrome, Kosho type'), +('2953','mcEDS'), +('213797','Cervical malignant mesenchymal tumor'), +('213797','Cervical sarcoma'), +('213797','Malignant mesenchymal tumor of cervix uteri'), +('213828','Cervical adenoid basal carcinoma'), +('213823','Cervical adenoid cystic carcinoma'), +('3082','Kozlowski-Krajewska syndrome'), +('213817','Cervical papillary carcinoma'), +('782','Axenfeld syndrome'), +('782','Rieger syndrome'), +('3269','Radioulnar fusion'), +('213837','Cervical germ cell cancer'), +('213837','Cervical malignant germ cell tumor'), +('213837','Germ cell cancer of the cervix uteri'), +('216445','Isolated prelingual genetic deafness'), +('216445','Isolated prelingual genetic hearing loss'), +('216445','Prelingual non-syndromic genetic hearing loss'), +('3309','Isochromosome 5p'), +('216452','Isolated postlingual genetic deafness'), +('216452','Isolated postlingual genetic hearing loss'), +('216452','Postlingual non-syndromic genetic hearing loss'), +('216675','Complete transposition'), +('216675','TGA'), +('216675','TGV'), +('216675','Transposition of the great vessels'), +('3379','Distal duplication 17q'), +('3379','Telomeric duplication 17q'), +('3379','Trisomy 17qter'), +('216694','Congenitally corrected transposition of the great vessels'), +('216694','Discordant ventriculoarterial and atrioventricular connections'), +('216694','Double discordance'), +('216694','L-transposition of the great arteries'), +('216694','Levo-transposition of the great arteries'), +('216694','Ventricular inversion'), +('216694','Ventriculoarterial and atrioventricular discordance'), +('216718','Isolated congenitally uncorrected transposition of the great vessels'), +('3411','Double uterus and obstructed hemivagina syndrome'), +('3411','Herlyn-Werner syndrome'), +('3411','OHVIRA syndrome'), +('3411','Obstructed hemivagina and ipsilateral renal anomaly'), +('3411','Wunderlich syndrome'), +('216729','Congenitally uncorrected transposition of the great vessels with cardiac malformation'), +('216729','TGA with cardiac malformation'), +('882','FAH deficiency'), +('882','Fumarylacetoacetase deficiency'), +('882','Fumarylacetoacetate hydrolase deficiency'), +('882','Hepatorenal tyrosinemia'), +('882','Tyrosinemia type I'), +('216796','Adair-Dighton syndrome'), +('216796','Mild osteogenesis imperfecta'), +('216796','Non-deforming osteogenesis imperfecta'), +('216796','OI type 1'), +('216796','Van der Hoeve syndrome'), +('903','Hereditary von Willebrand disease'), +('216804','Lethal osteogenesis imperfecta'), +('216804','OI type 2'), +('216812','OI type 3'), +('216812','Progressive deforming osteogenesis imperfecta'), +('216812','Severe osteogenesis imperfecta'), +('995','Holmes-Benacerraf syndrome'), +('216820','OI type 4'), +('216828','OI type 5'), +('3474','Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome'), +('3474','Congenital disorder of glycosylation due to PIGL deficiency'), +('3474','Neuroectodermal dysplasia, CHIME type'), +('3474','Neuroectodermal syndrome, Zunich type'), +('3474','PIGL-CDG'), +('3474','Zunich-Kaye syndrome'), +('216866','NBIA1, classic form'), +('216866','Neurodegeneration with brain iron accumulation type 1, classic form'), +('216866','PKAN, classic form'), +('216873','NBIA1, atypical form'), +('216873','Neurodegeneration with brain iron accumulation type 1, atypical form'), +('216873','PKAN, atypical form'), +('1441','Ring 17'), +('1441','Ring chromosome 17'), +('216981','Niemann-Pick disease type C, classic form'), +('1863','Femoral trochlear groove insufficiency'), +('1863','Hypoplasia of the femoral trochlea'), +('217008','Genuine diffuse phlebectasia'), +('216989','DDEB, Pasini type'), +('217017','Occipital atretic cephalocele-unusual facies-large feet syndrome'), +('217012','SCA31'), +('2088','GSD due to GLUT2 deficiency'), +('2088','GSD type 11'), +('2088','GSD type XI'), +('2088','Glycogen storage disease due to GLUT2 deficiency'), +('2088','Glycogen storage disease type 11'), +('2088','Glycogen storage disease type XI'), +('2088','Glycogenosis due to GLUT2 deficiency'), +('217026','Hadziselimovic syndrome'), +('217026','Microcephaly-faciocardioskeletal syndrome'), +('217023','Atypical HUS with thrombomodulin anomaly'), +('217023','D- HUS with thrombomodulin anomaly'), +('217023','Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly'), +('217023','aHUS with thrombomodulin anomaly'), +('217034','Azoospermia due to maturation arrest'), +('217034','Azoospermia due to meiosis defect'), +('217034','Male infertility with normal virilization due to maturation arrest'), +('217266','Bifid nose with or without anorectal and renal anomalies'), +('179','Birdshot chorioretinitis'), +('179','Birdshot retinochoroiditis'), +('179','Birdshot retinochoroidopathy'), +('179','Vitiliginous choroiditis'), +('217260','PML'), +('217260','Progressive multifocal leukoencephalitis'), +('292','Antenatal enterovirus infection'), +('292','Mother-to-child transmission of enterovirus infection'), +('217253','Limbic encephalitis with N-methyl-D-aspartate receptor antibodies'), +('767','Küssmaul-Maier disease'), +('767','PAN'), +('767','Periarteritis nodosa'), +('2584','Mycosis fungoides, Alibert-Bazin type'), +('217093','Hunter syndrome type B'), +('217093','Iduronate 2-sulfatase deficiency type B'), +('217093','MPS2B'), +('217093','MPSIIB'), +('217093','Mucopolysaccharidosis type 2B'), +('217093','Mucopolysaccharidosis type II, attenuated form'), +('217093','Mucopolysaccharidosis type IIB'), +('3162','Sézary lymphoma'), +('217085','Hunter syndrome type A'), +('217085','Iduronate 2-sulfatase deficiency type A'), +('217085','MPS2A'), +('217085','MPSIIA'), +('217085','Mucopolysaccharidosis type 2A'), +('217085','Mucopolysaccharidosis type II, severe form'), +('217085','Mucopolysaccharidosis type IIA'), +('217074','Rare pancreatic carcinoma'), +('2330','Hemangioma-thrombocytopenia syndrome'), +('217071','RCC'), +('2700','Cancrum oris'), +('217064','5-fluorouracil intoxication'), +('1451','Chronic infantile neurological cutaneous and articular syndrome'), +('1451','IOMID syndrome'), +('1451','Infantile-onset multisystem inflammatory disease'), +('1451','NOMID syndrome'), +('1451','Neonatal-onset multisystem inflammatory disease'), +('1451','Prieur-Griscelli syndrome'), +('217059','Isolated congenital acropachy'), +('217059','Isolated congenital nail clubbing'), +('217055','RI-CMT type A'), +('2778','Juvenile CRMO'), +('217335','MACS syndrome'), +('217335','Macrocephaly-alopecia-cutis laxa-scoliosis syndrome'), +('217335','RIN2 deficiency'), +('217335','Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome'), +('2745','Hypertelorism-oesophageal abnormality-hypospadias syndrome'), +('2745','Hypospadias-dysphagia syndrome'), +('2745','Hypospadias-hypertelorism syndrome'), +('2745','Opitz syndrome'), +('2745','Opitz-Frias syndrome'), +('217340','Dup(17)(q21.31)'), +('217340','Trisomy 17q21.31'), +('217315','Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome'), +('217315','Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome'), +('217315','Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome'), +('217330','ADTKD-REN'), +('217330','FJHN type 2'), +('217330','Familial juvenile hyperuricemic nephropathy type 2'), +('217330','REN-associated FJHN'), +('217330','REN-associated familial juvenile hyperuricemic nephropathy'), +('217330','REN-associated kidney disease'), +('1648','Cortical Lewy body disease'), +('1648','DLB'), +('1648','Diffuse Lewy body disease'), +('1648','Lewy body dementia'), +('2566','CAEBV syndrome'), +('2566','Chronic EBV infection syndrome'), +('3385','Sleeping sickness'), +('566','Congenital miosis'), +('340','Hantavirosis'), +('340','Hantavirus fever'), +('1171','CAPOS syndrome'), +('1171','Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome'), +('1463','Cor triatriatum'), +('217560','NCHI'), +('217560','NEHI'), +('217557','Infantile cellular interstitial pneumonitis'), +('217557','PIG'), +('217563','Neonatal acute respiratory distress due to surfactant protein B deficiency'), +('217410','Circumscribed lymphangioma'), +('1456','Coarctation of the abdominal aorta'), +('1456','Mid-aortic dysplastic syndrome'), +('1456','Mid-aortic syndrome'), +('1456','Midaortic syndrome'), +('1456','Middle aortic syndrome'), +('217467','Hereditary thrombophilia due to congenital HRG deficiency'), +('217390','CID due to DOCK8 deficiency'), +('217390','Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency'), +('217390','DOCK8 immunodeficiency syndrome'), +('217385','17p13.3 duplication syndrome'), +('217385','Dup(17)(p13.3)'), +('217385','Trisomy 17p13.3'), +('217399','Congenital absence of pain with hyperhidrosis'), +('217399','Congenital analgesia with hyperhidrosis'), +('217399','Congenital indifference to pain with hyperhidrosis'), +('982','Absent pulmonary valve syndrome'), +('982','Congenital absence of the pulmonary valve'), +('982','PVA'), +('217371','Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins'), +('217346','Del(19)(q13.11)'), +('217346','Monosomy 19q13.11'), +('980','Aplasia of pulmonary artery'), +('980','UAPA'), +('980','Unilateral Pulmonary Artery Absence'), +('980','Unilateral pulmonary artery agenesis'), +('217377','Dup(X)(p11.22p11.23)'), +('217377','Trisomy Xp11.22p11.23'), +('217622','Neurosensory deafness with dilated cardiomyopathy'), +('217622','Neurosensory hearing loss with dilated cardiomyopathy'), +('217622','Sensorineural hearing loss with dilated cardiomyopathy'), +('3427','DOLV'), +('3426','DORV'), +('422','Idiopathic and/or familial pulmonary arterial hypertension'), +('2038','PAVM'), +('2037','Congenital aortopulmonary artery fistula'), +('2037','Congenital aortopulmonary septal defect'), +('217572','GSD with hypertrophic cardiomyopathy'), +('217572','Glycogenosis with hypertrophic cardiomyopathy'), +('282','FTD'), +('331','Fibrin-stabilizing factor deficiency'), +('159','CACT deficiency'), +('707','Yersiniosis'), +('217656','Familial isolated ARVC'), +('217656','Familial isolated ARVD'), +('217656','Familial isolated arrhythmogenic right ventricular cardiomyopathy'), +('217656','Familial isolated arrhythmogenic ventricular cardiomyopathy'), +('217656','Familial isolated arrhythmogenic ventricular dysplasia'), +('2157','HAL deficiency'), +('2157','HIS deficiency'), +('2157','Histidase deficiency'), +('2157','Histidine ammonia-lyase deficiency'), +('2157','Histidinuria'), +('2157','Hyperhistidinemia'), +('220402','Limited cutaneous systemic scleroderma'), +('3124','Hyperlysinemia type II'), +('3124','Saccharopine dehydrogenase deficiency'), +('220407','Systemic sclerosis sine scleroderma'), +('2203','Hyperlysinemia type I'), +('2203','Lysine alpha-ketoglutarate reductase deficiency'), +('220393','Diffuse cutaneous systemic scleroderma'), +('220393','Progressive cutaneous systemic scleroderma'), +('220393','Progressive cutaneous systemic sclerosis'), +('332','Congenital pernicious anemia'), +('332','Gastric intrinsic factor deficiency'), +('332','Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency'), +('332','IFD'), +('332','Intrinsic factor deficiency'), +('2967','Haptocorrin deficiency'), +('2967','TCI deficiency'), +('2967','Transcobalamin-1 deficiency'), +('220452','Isolated hereditary macrothrombocytopenia'), +('220452','Isolated inherited giant platelet disorder'), +('220452','Isolated inherited macrothrombocytopenia'), +('220436','Factor V Quebec'), +('2168','Homocarnosinase deficiency'), +('2195','Glutamate-aspartate transport defect'), +('218432','RCM3'), +('2170','Functional methionine synthase deficiency type cblG'), +('220295','XP/CS complex'), +('414','HOGA'), +('414','Hyperornithinemia'), +('414','Hyperornithinemia-gyrate atrophy of choroid and retina syndrome'), +('414','Ornithine aminotransferase deficiency'), +('622','Functional methionine synthase deficiency'), +('622','Methylcobalamin deficiency'), +('927','NAGS deficiency'), +('3402','Transient tyrosinemia of the neonate'), +('34','Hyperpipecolatemia'), +('2880','PEPCK deficiency'), +('941','D-glycerate kinase deficiency'), +('941','D-glyceric acidemia'), +('220465','Laron-like syndrome'), +('220465','Short stature due to STAT5b deficiency'), +('220460','AFAP'), +('220460','Attenuated FAP'), +('220460','Attenuated familial polyposis coli'), +('220489','Iron overload disease'), +('19','2-hydroxyglutaric acidemia'), +('2843','Essential pentosuria'), +('2843','Xylitol dehydrogenase deficiency'), +('220497','JS-R'), +('212','Cystathionase deficiency'), +('212','Cystathionine gamma-lyase deficiency syndrome'), +('212','Gamma-cystathionase deficiency'), +('220493','JS-O'), +('220493','Joubert syndrome with retinopathy'), +('470','Hyperdibasic aminoaciduria'), +('470','LPI'), +('221074','MBD'), +('2965','Lactotroph adenoma'), +('2965','PRL-secreting pituitary adenoma'), +('2965','PRLoma'), +('2965','Pituitary lactotrophic adenoma'), +('2965','Prolactin-secreting pituitary adenoma'), +('221083','Facial hemispasm'), +('221083','Focal myoclonus of face'), +('538','LAM'), +('2942','Postpolio sequelae'), +('2942','Postpolio syndrome'), +('2942','Postpoliomyelitic syndrome'), +('2942','Postpoliomyelitis sequelae'), +('1578','Hyperphenylalaninemia due to dehydratase deficiency'), +('1578','Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency'), +('1578','Hyperphenylalaninemia with primapterinuria'), +('221109','Facial neuralgia'), +('3208','Isolated mitochondrial respiratory chain complex II deficiency'), +('3208','Isolated succinate dehydrogenase deficiency'), +('3208','Isolated succinate-coenzyme Q reductase deficiency'), +('3208','Isolated succinate-ubiquinone reductase deficiency'), +('221008','Poikiloderma of Rothmund-Thomson type 1'), +('221008','RTS1'), +('24','Fumarase deficiency'), +('221016','Poikiloderma of Rothmund-Thomson type 2'), +('221016','RTS2'), +('1561','Fatal infantile COX deficiency'), +('1561','Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency'), +('1460','Isolated CoQ-cytochrome C reductase deficiency'), +('1460','Isolated coenzyme Q-cytochrome C reductase deficiency'), +('1460','Isolated mitochondrial respiratory chain complex III deficiency'), +('1460','Isolated ubiquinone-cytochrome C reductase deficiency'), +('221043','POIKTMP syndrome'), +('221046','Poikiloderma with neutropenia, Clericuzio type'), +('745','Autosomal recessive thrombophilia due to PC deficiency'), +('745','Autosomal recessive thrombophilia due to congenital protein C deficiency'), +('221054','Acrocephalopolydactylous dysplasia'), +('221054','Elejalde syndrome'), +('221061','Familial brain cavernous angioma'), +('221061','Familial cerebral cavernoma'), +('221061','Hereditary brain cavernous angioma'), +('221061','Hereditary cerebral cavernoma'), +('221061','Hereditary cerebral cavernous malformation'), +('225154','Familial IBSN'), +('225154','Familial infantile striatonigral degeneration'), +('225154','Familial infantile striatonigral necrosis'), +('225123','TFR2-related hemochromatosis'), +('225147','ABSN'), +('225147','Acute bilateral striatal necrosis'), +('225147','Sporadic IBSN'), +('225147','Sporadic infantile striatonigral degeneration'), +('225147','Sporadic infantile striatonigral necrosis'), +('223713','OXPHOS disease'), +('221120','ASSA'), +('221120','Aminopterin syndrome-like sine aminopterin'), +('221126','Cerebral proliferative glomeruloid vasculopathy'), +('221126','Encephaloclastic proliferative vasculopathy'), +('221126','Hydrocephaly/hydranencephaly due to cerebral vasculopathy'), +('221126','Proliferative vasculopathy and hydranencephaly/hydrocephaly'), +('221139','Roifman-Chitayat syndrome'), +('221145','ARCL1C'), +('221145','Autosomal recessive cutis laxa type 1C'), +('221145','Urban-Rifkin-Davis syndrome'), +('228003','SCID due to CORO1A deficiency'), +('228003','SCID due to coronin-1A deficiency'), +('228003','Severe combined immunodeficiency due to coronin-1A deficiency'), +('3398','TEN'), +('3398','Thymic epithelial tumor'), +('547','NHL'), +('227990','APS type 4'), +('227990','APS4'), +('227990','Autoimmune polyendocrine syndrome type 4'), +('227990','Autoimmune polyglandular syndrome type 4'), +('842','Seminoma of testis'), +('842','Seminomatous germ cell tumor of testis'), +('842','Testicular seminoma'), +('227982','APS type 3'), +('227982','APS3'), +('227982','Autoimmune polyendocrine syndrome type 3'), +('227982','Autoimmune polyglandular syndrome type 3'), +('876','Endodermal sinus tumor'), +('228123','California disease'), +('228123','Coccidioides infection'), +('228123','Desert fever'), +('228123','Desert rheumatism'), +('228123','San Joaquin valley fever'), +('228123','Valley fever'), +('228119','Fusarium infection'), +('389','Histiocytosis X'), +('389','Langerhans cell granulomatosis'), +('228012','Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome'), +('228012','Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome'), +('228012','Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome'), +('541','Primary cutaneous Ki-1+ T-cell lymphoproliferative disease'), +('543','Small non-cleaved cell lymphoma'), +('319','Osseous Ewing sarcoma'), +('227535','Familial breast cancer'), +('227535','Familial breast carcinoma'), +('227535','Hereditary breast carcinoma'), +('668','Osteogenic sarcoma'), +('227786','Hereditary flecked retinopathy'), +('227510','MSA, cerebellar type'), +('227510','MSA-c'), +('227510','Sporadic OPCA type 1'), +('227510','Sporadic olivopontocerebellar atrophy type 1'), +('94','Astrocytic tumor'), +('360','GBM'), +('360','Glioblastoma multiforme'), +('513','ALL'), +('513','Acute lymphoblastic leukemia/lymphoma'), +('513','Acute lymphocytic leukemia'), +('1957','Olfactory neuroblastoma'), +('226298','Secondary hypothyroidism'), +('2126','SFT/HPC'), +('758','Gronblad-Strandberg-Touraine syndrome'), +('758','PXE'), +('419','Proline oxidase deficiency'), +('3148','MPNST'), +('3148','Malignant neurilemmoma'), +('3148','Malignant neurofibroma'), +('3148','Malignant schwannoma'), +('3148','Neurofibrosarcoma'), +('3148','Neurogenic sarcoma'), +('3273','Synovialosarcoma'), +('391','Classic Hodgkin disease'), +('2260','Oligomeganephronic renal hypoplasia'), +('1652','Dent syndrome'), +('1652','Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis'), +('1652','Renal Fanconi syndrome with nephrocalcinosis and renal stones'), +('1652','X-linked recessive hypercalciuric hypophosphatemic rickets'), +('1652','X-linked recessive nephrolithiasis'), +('2542','Isolated anophthalmia-microphthalmia syndrome'), +('3280','Hydromyelia'), +('2478','MLC'), +('2478','Megalencephalic leukodystrophy'), +('2478','Megalencephaly-cystic leukodystrophy syndrome'), +('2478','Vacuolating megalencephalic leukoencephalopathy with subcortical cysts'), +('2478','Van der Knaap syndrome'), +('225968','Familial essential thrombocythemia'), +('3337','DeToni-Debré-Fanconi syndrome'), +('3337','Primary Fanconi renal syndrome'), +('757','Chloride shunt syndrome'), +('757','Familial hyperkalemic hypertension'), +('757','Gordon hyperkalemia-hypertension syndrome'), +('757','Hyperkalemia-hypertension syndrome, Gordon type'), +('757','Hypertensive hyperkalemia'), +('757','Mineralocorticoid resistant hyperkalemia'), +('757','PHA2'), +('757','PHAII'), +('757','Spitzer-Weinstein syndrome'), +('228418','MCSZ'), +('228423','Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections'), +('228423','Dendritic cell, monocyte, B and NK lymphoid deficiency'), +('228423','MonoMAC'), +('228423','Monocyte-B-natural killer-dendritic cell deficiency syndrome'), +('228423','Monocytopenia and mycobacterial infection syndrome'), +('521','CML'), +('521','Chronic granulocytic leukemia'), +('521','Chronic myelogenous leukemia'), +('228415','Dup(5)(q35)'), +('228415','Trisomy 5q35'), +('132','Pseudocholinesterase deficiency'), +('1172','ARCA'), +('229717','Isolated hypogammaglobulinemia'), +('2345','Congenital cervical vertebral fusion'), +('2345','Congenital fused cervical segments'), +('2345','Klippel-Feil malformation'), +('2345','Klippel-Feil sequence'), +('1333','Familial pancreatic cancer'), +('228429','GCL4'), +('228429','Generalized congenital lipodystrophy type 4'), +('228390','ALX4-related FNDAG'), +('228390','Craniofrontonasal dysplasia with alopecia and hypogonadism'), +('228390','Frontonasal dysplasia type 2'), +('228390','Frontonasal dysplasia with alopecia and genital abnomality'), +('228407','TMCO1 defect syndrome'), +('228410','PHD syndrome'), +('228399','Dup(8)(q12)'), +('228399','Trisomy 8q12'), +('228402','Del(2)(q23.1)'), +('228402','Monosomy 2q23.1'), +('228402','Pseudo-Angelman syndrome'), +('228384','Del(5)(q14.3)'), +('228384','Monosomy 5q14.3'), +('228379','Cyclosporine-induced folliculodystrophy'), +('228379','Pilomatrix dysplasia'), +('228379','TS'), +('228379','Trichodysplasia spinulosa'), +('228379','VATS'), +('228374','AR-CMT2B5'), +('228374','Autosomal recessive Charcot-Marie-Tooth disease type 2B5'), +('228374','SEOAN due to NEFL deficiency'), +('228374','Severe early-onset axonal neuropathy due to NEFL deficiency'), +('228374','Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency'), +('228371','Intoxication botulism'), +('228337','Cathepsin D deficiency'), +('228349','Classic late infantile NCL'), +('228349','Classic late infantile neuronal ceroid lipofuscinosis'), +('228346','Classic juvenile NCL'), +('228346','Classic juvenile neuronal ceroid lipofuscinosis'), +('228293','PXE-like papillary dermal elastolysis'), +('228302','CPT2, adult-onset form'), +('228302','CPT2, myopathic form'), +('228302','CPTII, adult-onset form'), +('228302','CPTII, myopathic form'), +('228302','Carnitine palmitoyl transferase II deficiency, adult-onset form'), +('228302','Carnitine palmitoyl transferase deficiency type 2, adult-onset form'), +('228302','Carnitine palmitoyl transferase deficiency type 2, myopathic form'), +('228305','CPT2, hepatocardiomuscular form'), +('228305','CPT2, severe infantile form'), +('228305','CPTII, hepatocardiomuscular form'), +('228305','CPTII, severe infantile form'), +('228305','Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form'), +('228305','Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form'), +('228305','Carnitine palmitoyl transferase deficiency type 2, severe infantile form'), +('228308','CPT2, lethal systemic form'), +('228308','CPT2, neonatal form'), +('228308','CPTII, lethal systemic form'), +('228308','CPTII, neonatal form'), +('228308','Carnitine palmitoyl transferase II deficiency, lethal systemic form'), +('228308','Carnitine palmitoyl transferase deficiency type 2, lethal systemic form'), +('228308','Carnitine palmitoyl transferase deficiency type 2, neonatal form'), +('228312','Cold AIHA'), +('228312','cAHA'), +('228312','cAIHA'), +('135','Childhood ataxia with diffuse central nervous system hypomyelination'), +('135','Leukoencephalopathy with vanishing white matter'), +('135','Myelinosis centralis diffusa'), +('228247','Acquired Gronblad-Strandberg-Touraine syndrome'), +('228247','Acquired PXE'), +('228254','Juvenile elastoma without osteopoikilosis'), +('228254','Nevus elasticus'), +('228254','Weidman juvenile elastoma'), +('228272','Primary macular atrophy'), +('228277','Hereditary anetoderma'), +('228277','Hereditary macular atrophy'), +('228285','Cutis laxa acquisita'), +('228190','Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome'), +('3202','Hereditary xerocytosis'), +('1544','Adolescent benign focal crisis'), +('228236','Elastotic striae'), +('228236','Linear focal dermal elastosis'), +('228227','PXE-like late-onset focal dermal elastosis'), +('228227','Pseudoxanthoma-like late-onset focal dermal elastosis'), +('228140','Familial paroxysmal ventricular fibrillation, non Brugada type'), +('1018','Xq22.3 microdeletion syndrome'), +('228165','Concentric demyelination'), +('306','BFIE'), +('306','BFIS'), +('306','Benign familial infantile convulsions'), +('306','Benign familial infantile seizures'), +('228157','Acute multiple sclerosis, Marburg type'), +('228157','Acute multiple sclerosis, Marburg variant'), +('328','Congenital Stuart factor deficiency'), +('328','Stuart-Prower factor deficiency'), +('228174','CMT2N'), +('228169','ADSD'), +('228184','Atriodigital dysplasia'), +('228179','CMT2M'), +('288','HE'), +('231531','HPS7'), +('231537','HPS8'), +('231512','HPS without pulmonary fibrosis'), +('1320','Idiopathic camptocormism'), +('1320','Idiopathic progressive lumbar kyphosis'), +('256','Dystonia musculorum deformans'), +('256','EOTD'), +('256','Early-onset generalized torsion dystonia'), +('256','Early-onset isolated dystonia'), +('256','Early-onset primary dystonia'), +('256','Early-onset torsion dystonia'), +('256','Idiopathic torsion dystonia'), +('256','Oppenheim dystonia'), +('231500','HPS with pulmonary fibrosis'), +('441','Bradbury-Eggleston syndrome'), +('441','Idiopathic orthostatic hypotension'), +('441','PAF'), +('441','Pure dysautonomia'), +('441','Pure idiopatic dysautonomia'), +('231457','Acute panautonomic GBS'), +('231457','Acute panautonomic Guillain-Barré syndrome'), +('231457','Acute panautonomic neuropathy'), +('231466','ASAN'), +('231466','Acute sensory ataxic GBS'), +('231466','Acute sensory ataxic Guillain-Barré syndrome'), +('1576','IBSN'), +('1576','Infantile striatonigral degeneration'), +('1576','Infantile striatonigral necrosis'), +('231445','Paraparetic variant of GBS'), +('231450','Acute pure sensory GBS'), +('231450','Acute pure sensory Guillain-Barré syndrome'), +('2073','Gélineau disease'), +('2073','Narcolepsy-cataplexy'), +('231426','PCB variant of GBS'), +('231426','PCB variant of Guillain-Barré syndrome'), +('231426','Pharyngeal-cervical-brachial weakness'), +('231426','Pharyngo-cervico-brachial variant of GBS'), +('231426','Pharyngo-cervico-brachial variant of Guillain-Barré syndrome'), +('231416','Regional variant of GBS'), +('231419','Functional variant of GBS'), +('231401','ATMDS'), +('231401','Acquired HbH disease'), +('231401','Acquired hemoglobin H disease'), +('231413','Variant of GBS'), +('2611','Linear hamartoma syndrome'), +('231393','XLTT'), +('809','MCTD'), +('809','Sharp syndrome'), +('1309','Cacchi-Ricci disease'), +('1309','MSK'), +('1309','Precalicial canalicular ectasia'), +('231249','E-beta-thalassemia'), +('231249','HbE-beta-thalassemia syndrome'), +('231242','C-beta-thalassemia'), +('231242','HbC-beta-thalassemia syndrome'), +('231230','Beta-thalassemia associated with another Hb anomaly'), +('231226','Inclusion body beta-thalassemia'), +('18','Classic RTA'), +('18','Familial distal primary acidosis'), +('18','Renal tubular acidosis type 1'), +('18','dRTA'), +('160','Angiofollicular ganglionic hyperplasia'), +('160','Angiofollicular lymph hyperplasia'), +('231214','Cooley anemia'), +('231214','Mediterranean anemia'), +('2841','Benign chronic familial pemphigus of Hailey-Hailey'), +('2841','Hailey-Hailey disease'), +('231183','USH3'), +('231178','USH2'), +('231154','CID due to partial RAG1 deficiency'), +('231154','CID with expansion of gamma delta T cells'), +('231154','Combined immunodeficiency with expansion of gamma delta T cells'), +('231160','Familial berry aneurysm'), +('231160','Familial intracranial saccular aneurysm'), +('231169','USH1'), +('231137','Silver-Russell syndrome due to 7p11.2-p13 microduplication'), +('231137','Silver-Russell syndrome due to dup(7)(p11.2p13)'), +('231137','Silver-Russell syndrome due to trisomy 7p11.2-p13'), +('231137','Silver-Russell syndrome due to trisomy 7p11.2p13'), +('231147','UPD(11)mat'), +('231108','RTPS'), +('231108','Rhabdoid tumor predisposition syndrome'), +('405','FBH'), +('405','FBHH'), +('405','FHH'), +('405','Familial benign hypercalcemia'), +('405','Familial benign hypocalciuric hypercalcemia'), +('231111','DILE'), +('1223','Balantidiosis'), +('1223','Ciliary dysentery'), +('231040','Familial lentigines profusa'), +('231040','Familial multiple lentigines syndrome without systemic involvement'), +('3318','ET'), +('3318','Essential thrombocytosis'), +('230857','EDS/OI syndrome'), +('230851','Cardiac-valvular EDS'), +('230851','cvEDS'), +('231031','Lane disease'), +('231031','Red palms disease'), +('913','Gastrinoma'), +('230800','Toxin-mediated infective botulism'), +('230845','COL1A1-cEDS'), +('230845','Classic EDS-like with a propensity for arterial rupture'), +('230845','Classical EDS due to COL1A1 p.(Arg312Cys)'), +('230845','Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys)'), +('230845','Vascular-like classical EDS'), +('82','Hereditary thrombophilia due to congenital antithrombin 3 deficiency'), +('230839','Classical-like EDS type 1'), +('230839','Ehlers-Danlos syndrome due to tenascin-X deficiency'), +('230839','clEDS type 1'), +('519','AML'), +('519','Acute myelogenous leukemia'), +('235936','FH'), +('238269','Apolipoprotein A-II amyloidosis'), +('238269','Familial amyloid nephropathy due to apolipoprotein A-II variant'), +('238269','Familial renal amyloidosis due to apolipoprotein A-II variant'), +('238269','Hereditary amyloid nephropathy due to apolipoprotein A-II variant'), +('238269','Hereditary renal amyloidosis due to apolipoprotein A-II variant'), +('238446','15q11q13 duplication syndrome'), +('238446','Dup(15)(q11q13)'), +('238446','Trisomy 15q11q13'), +('238329','Mitochondrial encephalomyopathy due to COXPD6'), +('238329','Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6'), +('231573','CEVD'), +('231573','Congenital erosive and vesicular dermatosis with reticulated supple scarring'), +('231580','PUAH'), +('231568','Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types'), +('231568','DDEB, Pasini and Cockayne-Touraine types'), +('231568','DDEB, generalized'), +('231568','DDEB-gen'), +('231632','Extra-adrenal aldosterone-producing tumor'), +('231625','Pure APAC'), +('231625','Pure aldosterone-producing adrenocortical carcinoma'), +('231625','Pure aldosterone-secreting adrenocortical carcinoma'), +('1900','Cutis hyperelastica'), +('1900','EDS VIA'), +('1900','Ehlers-Danlos syndrome type 6A'), +('1900','Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency'), +('1900','Lysyl hydroxylase-deficient EDS'), +('1900','Ocular-scoliotic EDS'), +('1900','kEDS-PLOD1'), +('231671','Congenital IGHD type IB'), +('231671','Congenital isolated GH deficiency type IB'), +('231671','Congenital isolated growth hormone deficiency type IB'), +('286','Arterial-ecchymotic EDS'), +('286','EDS IV'), +('286','Ehlers-Danlos syndrome type 4'), +('286','Sack-Barabas syndrome'), +('286','vEDS'), +('231679','Congenital IGHD type II'), +('231679','Congenital isolated GH deficiency type II'), +('231679','Congenital isolated growth hormone deficiency type II'), +('285','EDS III'), +('285','EDS-HT'), +('285','Ehlers-Danlos syndrome hypermobility type'), +('285','Ehlers-Danlos syndrome type 3'), +('285','hEDS'), +('231662','Congenital IGHD type IA'), +('231662','Congenital isolated GH deficiency type IA'), +('231662','Congenital isolated growth hormone deficiency type IA'), +('231736','MPPC syndrome'), +('257','EBS-MD'), +('257','Limb-girdle muscular dystrophy with epidermolysis bullosa simplex'), +('1901','Ehlers-Danlos syndrome type 7C'), +('1901','Human dermatosparaxis EDS VIIC'), +('1901','dEDS'), +('231692','Congenital IGHD type III'), +('231692','Congenital isolated GH deficiency type III'), +('231692','Congenital isolated growth hormone deficiency type III'), +('231692','X-linked IGHD'), +('231692','X-linked isolated growth hormone deficiency'), +('231720','Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome'), +('1899','Arthrochalasis multiplex congenita'), +('1899','EDS VII'), +('1899','Ehlers-Danlos syndrome type 7'), +('1899','Ehlers-Danlos syndrome, arthrochalasia type'), +('1899','aEDS'), +('839','Finnish congenital nephrosis'), +('531','Lissencephaly due to 17p13.3 deletion'), +('531','Monosomy 17p13.3'), +('531','Telomeric deletion 17p'), +('3394','Malignant mesenchymal tumor'), +('3394','Malignant soft tissue tumor'), +('3394','Soft part sarcoma'), +('452','X-linked lissencephaly with ambiguous genitalia'), +('452','X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome'), +('452','XLAG (X-linked lissencephaly with abnormal genitalia) syndrome'), +('238750','Del(4)(q21)'), +('238750','Monosomy 4q21'), +('238755','LGMD1H'), +('238763','Megalocornea-spherophakia-secondary glaucoma syndrome'), +('238722','Familial congenital controlateral synkinesia'), +('238722','Hereditary congenital controlateral synkinesia'), +('238722','Hereditary congenital mirror movements'), +('238722','Isolated congenital controlateral synkinesia'), +('238722','Isolated congenital mirror movements'), +('238744','MDN syndrome'), +('238744','Onycho-digito-mammary syndrome'), +('238769','Del(1)(q44)'), +('238769','Monosomy 1q44'), +('238505','Autosomal recessive lymphoproliferative disease due to CD27 deficiency'), +('238505','CD27 deficiency'), +('238468','Anhidrotic ectodermal dysplasia'), +('238468','HED'), +('238475','Hereditary hypercholanemia'), +('238455','IPD'), +('238455','PKDYS'), +('238459','CDG syndrome type IIf'), +('238459','CDG-IIf'), +('238459','CDG2F'), +('238459','CMP-sialic acid transporter deficiency'), +('238459','Carbohydrate deficient glycoprotein syndrome type IIf'), +('238459','Congenital disorder of glycosylation type 2f'), +('238459','Congenital disorder of glycosylation type IIf'), +('238578','Hereditary clubfoot due to 17q23.1-q23.2 microduplication'), +('238583','Hyperphenylalaninemia due to BH4 deficiency'), +('238583','Non-phenylketonuric hyperphenylalaninemia'), +('238557','Chuvash polycythemia'), +('238557','Von Hippel-Lindau-dependent polycythemia'), +('238569','IL10-related early-onset IBD'), +('238569','IL10-related early-onset inflammatory bowel disease'), +('238547','Acquired secondary erythrocytosis'), +('238523','Atypical HCS'), +('238536','Congenital secondary erythrocytosis'), +('238637','Megaureter-megacystis syndrome'), +('238624','Benign intracranial hypertension'), +('238624','IIH'), +('238624','Pseudotumor cerebri'), +('238606','POT'), +('238593','Isolated mesenteric lipodystrophy'), +('238593','Lipomatous mesenteritis'), +('238593','Liposclerotic mesenteritis'), +('238593','Mesenteric lipogranuloma'), +('238593','Mesenteric panniculitis'), +('238593','Sclerosing mesenteritis'), +('238691','Congenital hepatic hemangioma'), +('238670','Isolated TRF deficiency'), +('238670','Isolated TRH deficiency'), +('238670','Isolated TSH-releasing factor deficiency'), +('238670','Isolated prothyroliberin deficiency'), +('238670','Isolated protirelin deficiency'), +('238670','Isolated thyroliberin deficiency'), +('238670','Isolated thyrotropin-releasing factor deficiency'), +('240071','Classic PSP syndrome'), +('240071','Richardson syndrome'), +('240071','Steele-Richardson-Olszewski disease'), +('240112','PSP-AOS'), +('240112','PSP-PNFA'), +('240112','Progressive supranuclear palsy-apraxia of speech syndrome'), +('240103','PSP-CBS'), +('240103','PSP-corticobasal syndrome'), +('240094','PSP-PAGF'), +('240094','PSP-pure akinesia with gait freezing'), +('240085','PSP-p'), +('240085','PSP-parkinsonism'), +('240760','Microcephaly and chromosomal instability without immunodeficiency'), +('240760','NBS-like disorder'), +('240760','NBSLD'), +('240760','RAD50 deficiency'), +('331226','Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency'), +('331235','Selective immunoglobulin M deficiency'), +('331176','SCN4'), +('331176','Severe congenital neutropenia type 4'), +('331176','Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome'), +('331206','SCID due to complete RAG1/2 deficiency'), +('330206','Genetic MCA'), +('330206','Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)'), +('330197','Genetic MCA/variable MR'), +('330197','Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome'), +('330064','Actinic reticuloid'), +('330064','Chronic photosensitivity dermatitis'), +('330001','ATTRwt amyloidosis'), +('330001','ATTRwt-related amyloidosis'), +('330001','SSA'), +('330001','Senile systemic amyloidosis'), +('330001','Wild type ATTR-related amyloidosis'), +('329977','Classic appendiceal neuroendocrine tumor'), +('329977','Classic appendix neuroendocrine tumor'), +('329984','GCC'), +('329984','Goblet cell adenocarcinoid'), +('329984','Goblet cell carcinoid'), +('329984','Goblet cell tumor'), +('330015','Lead intoxication'), +('330015','Plumbism'), +('330015','Saturnism'), +('330032','HbLepore-beta-thalassemia syndrome'), +('330032','Lepore-beta-thalassemia syndrome'), +('330041','M hemoglobinopathy'), +('330021','Hydrargyria'), +('330021','Mercurialism'), +('330021','Mercury intoxication'), +('330029','Hypotrichosis-hearing loss syndrome'), +('330061','Familial polymorphous light eruption of American Indians'), +('330061','Hereditary polymorphous light eruption of American Indians'), +('330061','Hutchinson summer prurigo'), +('330061','Hydroa aestivale'), +('330054','Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome'), +('329813','Androgenetic/biparental mosaicism'), +('329813','Genome-wide paternal uniparental disomy mosaicism'), +('329813','Mosaic genome-wide paternal UPD'), +('329802','Dup(5)(p13)'), +('329802','Trisomy 5p13'), +('329883','Hypertrophic gastropathy without hypoproteinemia'), +('329874','IGCM'), +('329481','LPG'), +('329942','Transient neonatal MAD deficiency'), +('329942','Transient neonatal MADD'), +('329942','Transient neonatal glutaric acidemia type 2'), +('329942','Transient neonatal glutaric aciduria type 2'), +('329888','JIIM'), +('329918','Non-Ig-mediated MPGN'), +('329918','Non-Ig-mediated membranoproliferative glomerulonephritis'), +('329918','Non-immunoglobulin-mediated MPGN'), +('329918','Non-immunoglobulin-mediated membranoproliferative glomerulonephritis'), +('329903','Ig-mediated MPGN'), +('329903','Ig-mediated membranoproliferative glomerulonephritis'), +('329903','Immunoglobulin-mediated MPGN'), +('329308','FAHN'), +('329314','Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency'), +('329319','Familial thrombocytosis with transverse limb defect'), +('329319','Hereditary thrombocytosis with transverse limb defect'), +('329324','Cutaneous hemangioma with muscle or bone atrophy'), +('329284','BPAN'), +('329284','NBIA5'), +('329284','Neurodegeneration with brain iron accumulation type 5'), +('329284','SENDA'), +('329284','Static encephalopathy of childhood with neurodegeneration in adulthood'), +('329303','PLAN'), +('329457','DA5D'), +('329457','Distal arthrogryposis type 5 without ophthalmoparesis'), +('329457','Distal arthrogryposis type 5 without ophthalmoplegia'), +('329466','DYT25'), +('329466','Dystonia 25'), +('329469','Non-DS-AMKL'), +('329332','Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome'), +('329336','Adult-onset CPEO with mitochondrial myopathy'), +('329341','Limbic encephalitis with DPPX antibodies'), +('329341','Limbic encephalitis with dipeptidyl-peptidase 6 antibodies'), +('329228','Microcephalic primordial dwarfism, Walsh type'), +('329217','CSVT'), +('329211','ADNIV'), +('329206','Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome'), +('329195','Developmental delay with ASD and gait instability'), +('329191','Tall stature-scoliosis-macrodactyly of the halluces syndrome'), +('329178','CDG syndrome type Iu'), +('329178','CDG-Iu'), +('329178','CDG1U'), +('329178','CMD with intellectual disability and severe epilepsy'), +('329178','Carbohydrate deficient glycoprotein syndrome type Iu'), +('329178','Congenital disorder of glycosylation type 1u'), +('329178','Congenital disorder of glycosylation type Iu'), +('329178','DPM2-CDG'), +('329258','CMT2Q'), +('329242','Congenital chronic diarrhea with exudative enteropathy'), +('329235','IGSF1 deficiency syndrome'), +('329235','X-linked central congenital hypothyroidism with late-onset macroorchidism'), +('328269','Rare bone disease with limb hypoplasia'), +('325697','Genetic 46,XX DSD'), +('325690','Genetic DSD'), +('325713','Genetic 46,XY DSD of endocrine origin'), +('325706','Genetic 46,XY DSD'), +('325638','Syndrome with DSD of gynecological interest'), +('325665','Genetic DSD of gynecological interest'), +('325620','DSD of gynecological interest'), +('325632','46,XY DSD of gynecological interest'), +('329','Hemophilia C'), +('329','PTA deficiency'), +('329','Plasma thromboplastin antecedent deficiency'), +('329','Rosenthal factor deficiency'), +('329','Rosenthal syndrome'), +('1243','BMD'), +('1243','BVMD'), +('1243','Best disease'), +('1243','Best macular dystrophy'), +('1243','Early-onset vitelliform macular dystrophy'), +('1243','Juvenile-onset vitelliform macular dystrophy'), +('1243','Polymorphic vitelline macular degeneration'), +('1243','Vitelliform macular dystrophy type 2'), +('325511','46,XY DSD due to a cholesterol synthesis defect'), +('325524','Classic CLAH'), +('325357','46,XY DSD due to impaired androgen production'), +('325448','46,XY DSD due to LHB deficiency'), +('325448','46,XY DSD due to luteinizing hormone subunit beta deficiency'), +('325448','46,XY disorder of sex development due to LHB deficiency'), +('325448','46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency'), +('325448','Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency'), +('325546','Sex chromosome DSD'), +('325537','46,XY DSD induced by maternal-exposure to endocrine disruptors'), +('325124','Bilateral anorchia'), +('325351','46,XY DSD of endocrine origin'), +('325345','46,XY ovotesticular DSD'), +('325109','Syndrome with 46,XX DSD'), +('325099','46,XX DSD induced by exogenous maternal-derived androgen'), +('325093','46,XX DSD induced by endogenous maternal-derived androgen'), +('325061','46,XX DSD induced by fetoplacental androgens excess'), +('324982','Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome'), +('324989','Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome'), +('324999','Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome'), +('325004','Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome'), +('324964','CNO/CRMO'), +('324972','Mouth and genital ulcers-inflamed cartilage syndrome'), +('324977','ALDD syndrome'), +('324977','Autoinflammation-lipodystrophy-dermatosis syndrome'), +('324977','PRAAS'), +('324977','Proteasome disability syndrome'), +('324718','ABeta amyloidosis, Flemish type'), +('324718','ABetaA21G-related amyloidosis'), +('324718','HCHWA, Flemish type'), +('324718','Hereditary cerebral hemorrhage with amyloidosis, Flemish type'), +('324713','ABetaE22K amyloidosis'), +('324713','HCHWA, Italian type'), +('324713','Hereditary cerebral hemorrhage with amyloidosis, Italian type'), +('324737','CDG syndrome type Iq'), +('324737','CDG-Iq'), +('324737','CDG1Q'), +('324737','Congenital disorder of glycosylation type 1q'), +('324737','Congenital disorder of glycosylation type Iq'), +('324723','ABetaE22G amyloidosis'), +('324723','HCHWA, Arctic type'), +('324723','Hereditary cerebral hemorrhage with amyloidosis, Arctic type'), +('324648','Invasive non-typhoidal salmonella disease'), +('324648','iNTS disease'), +('324636','GDS'), +('324636','Gardner-Diamond syndrome'), +('324636','Painful bruising syndrome'), +('324636','Psychogenic purpura'), +('324708','ABetaD23N amyloidosis'), +('324708','HCHWA, Iowa type'), +('324708','Hereditary cerebral hemorrhage with amyloidosis, Iowa type'), +('324703','ABeta amyloidosis, Piedmont type'), +('324703','ABetaL34V-related amyloidosis'), +('324703','HCHWA, Piedmont type'), +('324703','Hereditary cerebral hemorrhage with amyloidosis, Piedmont type'), +('324611','CMT2 due to KIF5A mutation'), +('324604','Classic MmD'), +('324604','Classic multiminicore disease'), +('324588','FDFM'), +('324569','PCH8'), +('324569','Pontocerebellar hypoplasia due to CHMP1A mutation'), +('324575','Hyperinsulinemic hypoglycemia due to HNF1A deficiency'), +('324540','Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome'), +('324540','Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome'), +('324561','Cole disease'), +('324561','Guttate hypopigmentation and punctate palmoplantar keratoderma'), +('324561','Hypopigmentation and punctate keratosis of the palms and soles'), +('324530','APLAID'), +('324535','COXPD11'), +('324525','Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation'), +('324442','ARAN-NM'), +('324442','ARCMT2-NM'), +('324442','Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia'), +('324422','CDG syndrome type Is'), +('324422','CDG-Is'), +('324422','CDG1S'), +('324422','Congenital disorder of glycosylation type 1s'), +('324422','Congenital disorder of glycosylation type Is'), +('324381','HIBM4'), +('324321','Sinoatrial node dysfunction and hearing loss'), +('324313','Del(9)(p13)'), +('324313','Monosomy 9p13'), +('324299','Multiple paragangliomas associated with erythrocytosis'), +('324299','Paraganglioma-somatostatinoma-polycythemia syndrome'), +('324294','T-cell immunodeficiency due to RHOH deficiency'), +('324262','Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency'), +('324262','Autosomal recessive spinocerebellar ataxia type 13'), +('324262','SCAR13'), +('319691','Partial achromatopsia, protan type'), +('319691','Protanopia'), +('319698','Deuteranopia'), +('319698','Partial achromatopsia, deutan type'), +('320335','Pure or complex familial spastic paraplegia'), +('320335','Pure or complicated familial spastic paraplegia'), +('320335','Pure or complicated hereditary spastic paraplegia'), +('320342','Pure or complicated autosomal dominant spastic paraplegia'), +('320346','Pure or complicated autosomal recessive spastic paraplegia'), +('320350','Pure or complicated X-linked spastic paraplegia'), +('320360','Maternally-inherited SPG'), +('320360','Maternally-inherited spastic paraplegia'), +('320355','SPG41'), +('320370','SPG43'), +('320365','SPG36'), +('320380','SPG54'), +('320375','SPG55'), +('320391','SPG46'), +('320385','Autosomal recessive spastic paraplegia type 49'), +('320385','HSAN due to TECPR2 mutation'), +('320385','SPG49'), +('320401','SPG44'), +('320396','Autosomal recessive spastic paraplegia type 65'), +('320396','SPG45'), +('320396','SPG65'), +('320411','SPG56'), +('320406','SPOAN'), +('319543','Autosomal dominant MSMD due to a partial deficiency'), +('319547','MSMD due to complete IFNgammaR2 deficiency'), +('319547','MSMD due to complete interferon gamma receptor 2 deficiency'), +('319547','Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency'), +('319535','Autosomal recessive MSMD due to a complete deficiency'), +('319539','Autosomal recessive MSMD due to a partial deficiency'), +('319519','COXPD14'), +('319524','COXPD15'), +('319509','COXPD9'), +('319514','COXPD13'), +('319589','Autosomal dominant MSMD due to partial IFNgammaR2 deficiency'), +('319589','Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency'), +('319589','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency'), +('319595','MSMD due to partial STAT1 deficiency'), +('319595','MSMD due to partial signal transducer and activator of transcription 1 deficiency'), +('319595','Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency'), +('319574','Autosomal recessive MSMD due to partial IFNgammaR2 deficiency'), +('319574','Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency'), +('319574','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency'), +('319581','Autosomal dominant MSMD due to partial IFNgammaR1 deficiency'), +('319581','Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency'), +('319581','Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency'), +('319563','MSMD due to complete ISG15 deficiency'), +('319569','Autosomal recessive MSMD due to partial IFNgammaR1 deficiency'), +('319569','Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency'), +('319569','Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency'), +('319552','MSMD due to complete IL12RB1 deficiency'), +('319552','MSMD due to complete interleukin 12 receptor beta 1 deficiency'), +('319552','Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency'), +('319558','MSMD due to complete IL12B deficiency'), +('319558','MSMD due to complete interleukin 12B deficiency'), +('319558','Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency'), +('319651','DHFR deficiency'), +('319651','Dihydrofolate reductase deficiency'), +('319646','CDG syndrome type It'), +('319646','CDG-It'), +('319646','CDG1T'), +('319646','Congenital disorder of glycosylation type 1t'), +('319646','Congenital disorder of glycosylation type It'), +('319646','PGM1-related congenital disorder of glycosylation'), +('319646','Phosphoglucomutase-1 deficiency'), +('319640','MCDR2'), +('319635','Amyloidosis cutis dyschromica'), +('319623','X-linked MSMD due to CYBB deficiency'), +('319612','X-linked MSMD due to IKBKG deficiency'), +('319612','X-linked MSMD due to NEMO deficiency'), +('319612','X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency'), +('319605','X-linked MSMD'), +('319600','MSMD due to partial IRF8 deficiency'), +('319600','MSMD due to partial interferon regulatory factor 8 deficiency'), +('319600','Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency'), +('319671','Alazami syndrome'), +('319667','Primary lymphoid conjunctival tumor'), +('319254','Kyasanur hemorrhagic fever'), +('319254','Monkey disease'), +('319254','Monkey fever'), +('319276','CCRCC'), +('319276','Clear cell renal cell adenocarcinoma'), +('319276','Clear cell renal cell carcinoma'), +('319239','Sabia hemorrhagic fever'), +('319314','Renal cell carcinoma after neuroblastoma'), +('319287','MCRCC'), +('319287','Multilocular clear cell adenocarcinoma'), +('319287','Multilocular clear cell carcinoma'), +('319287','Multilocular clear cell renal cell adenocarcinoma'), +('319287','Multilocular clear cell renal cell carcinoma'), +('319287','Multilocular cystic renal cell adenocarcinoma'), +('319287','Multilocular cystic renal cell carcinoma'), +('319298','Papillary renal cell adenocarcinoma'), +('319303','Chromophobe renal cell adenocarcinoma'), +('319308','Carcinoma associated with MITF/TFE translocation'), +('319308','Translocation renal cell carcinoma'), +('319332','Autosomal recessive myogenic AMC'), +('319332','SYNE1-related AMC'), +('319332','SYNE1-related arthrogryposis multiplex congenita'), +('319340','Carney complex variant'), +('319487','FNMTC'), +('319487','Familial pure nonmedullary thyroid carcinoma'), +('319480','AML with CEBPA somatic mutations'), +('319504','COXPD8'), +('319465','Familial AML'), +('319465','Inherited AML'), +('319465','Pure familial AML'), +('319465','Pure familial acute myeloid leukemia'), +('319205','BMAH'), +('319205','Bilateral adrenal hemorrhage'), +('319213','Zambian hemorrhagic fever'), +('319199','SPG53'), +('319229','Machupo hemorrhagic fever'), +('319234','Guanarito hemorrhagic fever'), +('319218','EHF'), +('319218','Ebola fever'), +('319218','Ebola virus disease'), +('319223','Argentinian hemorrhagic fever'), +('319223','Junin hemorrhagic fever'), +('319160','CNM4'), +('319160','Centronuclear myopathy type 4'), +('319171','Distal del(17)(p13.1)'), +('319182','Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome'), +('317419','T-B- SCID'), +('317416','T-B+ SCID'), +('317428','CID due to ORAI1 deficiency'), +('317425','SCID due to DNA-PKcs deficiency'), +('317430','CID due to STIM1 deficiency'), +('317473','CID due to IKAROS deficiency'), +('317473','Combined immunodeficiency due to IKAROS deficiency'), +('317476','CID due to MAGT1 deficiency'), +('317476','Combined immunodeficiency due to MAGT1 deficiency'), +('317476','XMEN'), +('315311','Classic 21-OHD CAH, simple virilizing form'), +('315306','Classic 21-OHD CAH, salt wasting form'), +('314970','HES-L'), +('314970','Lymphocytic variant HES'), +('314970','Lymphoid HES'), +('314962','HES-R'), +('314962','Reactive hypereosinophilic syndrome'), +('314962','Secondary HES'), +('314950','Clonal hypereosinophilic syndrome'), +('314950','HES-M'), +('314950','HES-N'), +('314950','Neoplastic hypereosinophilic syndrome'), +('314950','Primary HES'), +('314928','Chronic adult hydrocephalus'), +('314918','Juvenile Canavan disease'), +('314911','Infantile Canavan disease'), +('314911','Neonatal Canavan disease'), +('316244','Partial deletion of chromosome 12p'), +('316244','Partial monosomy of chromosome 12p'), +('316244','Partial monosomy of the short arm of chromosome 12'), +('316235','AD-SPAX'), +('316240','AR-SPAX'), +('316226','SPAX'), +('314701','Systemic AL amyloidosis'), +('314709','Localized AL amyloidosis'), +('314679','Van Maldergem syndrome'), +('314667','CDG syndrome type IIk'), +('314667','CDG-IIk'), +('314667','CDG2K'), +('314667','Carbohydrate deficient glycoprotein syndrome type IIk'), +('314667','Congenital disorder of glycosylation type 2k'), +('314667','Congenital disorder of glycosylation type IIk'), +('314689','CID due to STK4 deficiency'), +('314652','Autosomal dominant beta2-microglobulinic amyloidosis'), +('314655','5q31.3 microdeletion syndrome'), +('314655','Del(5)(q31.3)'), +('314655','Monosomy 5q31.3'), +('314621','DPG-plus syndrome'), +('314621','Duplication of the pituitary gland-plus syndrome'), +('314621','Hypophyseal duplication'), +('314637','COXPD10'), +('314637','Combined oxidative phosphorylation defect type 10'), +('314632','CLN12 disease'), +('314632','Juvenile parkinsonism-neuronal ceroid lipofuscinosis'), +('314802','Short stature due to partial growth hormone receptor deficiency'), +('314811','Ghrelin receptor deficiency'), +('314811','Short stature due to growth hormone secretagogue receptor deficiency'), +('314889','AD pRTA'), +('314777','FIPA'), +('314753','Endocrine active pituitary adenoma'), +('314753','Secreting pituitary adenoma'), +('314759','Mixed secreting pituitary adenoma'), +('314769','GH and PRL cosecreting pituitary adenoma'), +('314769','Growth hormone and prolactin cosecreting pituitary adenoma'), +('314769','Somatolactotropinoma'), +('314769','Somatoprolactinoma'), +('314721','Dentin dysplasia type 1 with microdontia and shape anomalies'), +('370127','Medich macrothrombocytopenia'), +('370109','v-AT'), +('370097','OCA6'), +('370091','OCA5'), +('370396','SCCO'), +('370396','Small cell ovarian carcinoma'), +('370348','PPNET'), +('370348','Peripheral PNET'), +('370348','Peripheral neuroepithelioma'), +('370334','EOE'), +('370334','Extraosseous Ewing sarcoma'), +('370334','Extraosseous Ewing tumor'), +('370334','Extraskeletal Ewing tumor'), +('370046','Aplasia cutis congenita-nevus sebaceus syndrome'), +('370039','Schauder syndrome'), +('370022','Poretti-Boltshauser syndrome'), +('370026','AML with t(8;16)(p11;p13) translocation'), +('370079','Proximal dup(16)(p11.2)'), +('370079','Proximal trisomy 16p11.2'), +('370068','FACS'), +('370068','Fetal AEDS'), +('370068','Fetal antiepileptic drug syndrome'), +('370052','Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome'), +('370052','Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome'), +('370059','Nevus epidermicus verrucosus with angiodysplasia and aneurysms'), +('371054','X-linked CDG with intellectual disability as a major feature'), +('371047','CDG with neurological involvement'), +('371071','CDG with epilepsy as a major feature'), +('371064','Non-X-linked CDG with intellectual disability as a major feature'), +('371007','CMDH'), +('370997','MEB disease with bilateral multicystic leucodystrophy'), +('371040','Primary alpha-dystroglycanopathy'), +('371040','Primary dystroglycanopathy'), +('371024','Alpha-dystroglycanopathy'), +('371024','Dystroglycanopathy'), +('371183','CDG with cardiac malformation as a major feature'), +('371176','CDG with dilated cardiomyopathy'), +('371195','CDG-related bone disorder'), +('371188','CDG with intestinal involvement'), +('371157','CDG with hepatic involvement'), +('370921','CDG syndrome type Iw'), +('370921','CDG-Iw'), +('370921','CDG1W'), +('370921','Congenital disorder of glycosylation type 1w'), +('370921','Congenital disorder of glycosylation type Iw'), +('370924','CDG syndrome type Ix'), +('370924','CDG-Ix'), +('370924','CDG1X'), +('370924','Carbohydrate deficient glycoprotein syndrome type Ix'), +('370924','Congenital disorder of glycosylation type 1x'), +('370924','Congenital disorder of glycosylation type Ix'), +('370927','CDG syndrome type Iy'), +('370927','CDG-Iy'), +('370927','CDG1Y'), +('370927','Carbohydrate deficient glycoprotein syndrome type Iy'), +('370927','Congenital disorder of glycosylation type 1y'), +('370927','Congenital disorder of glycosylation type Iy'), +('370953','CMD due to dystroglycanopathy'), +('370959','CMD with cerebellar involvement'), +('370959','CMD-CRB'), +('370968','CMD with intellectual disability'), +('370968','CMD-MR'), +('370980','CMD without intellectual disability'), +('370980','CMD-no MR'), +('370980','Congenital muscular dystrophy-dystroglycanopathy without intellectual disability'), +('370933','ST3GAL5-CDG'), +('370943','SLC35A3-CDG'), +('369920','PCH9'), +('369942','Contiguous ABCD1 DXS1357E deletion syndrome'), +('369942','Zellweger-like contiguous gene deletion syndrome'), +('369939','Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome'), +('369955','CblJ defects'), +('369955','Cobalamin J defect'), +('369955','Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ'), +('369955','Methylmalonic aciduria with homocystinuria, type cblJ'), +('369950','Der(8)t(8;12)'), +('369970','MMCAT syndrome'), +('369962','Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX'), +('369962','Methylmalonic aciduria with homocystinuria, type cblX'), +('369992','Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome'), +('369992','SAM syndrome'), +('369837','Congenital disorder of glycosylation due to PIGT deficiency'), +('369837','MCAHS type 3'), +('369837','Multiple congenital anomalies-hypotonia-seizures syndrome type 3'), +('369837','PIGT-CDG'), +('369840','Autosomal recessive limb-girdle muscular dystrophy type 2S'), +('369840','LGMD type 2S'), +('369840','LGMD2S'), +('369840','Limb-girdle muscular dystrophy type 2S'), +('369840','TRAPPC11-related LGMD R18'), +('369852','Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome'), +('369852','VPS45 deficiency'), +('369861','SIFD syndrome'), +('369867','RI-CMT type C'), +('369881','Del(2)(p21) without cystinuria'), +('369886','2p21 contiguous gene deletion syndrome'), +('369897','mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies'), +('369913','COXPD17'), +('364055','EOSRD'), +('364055','Early-onset severe retinal dystrophy'), +('364055','SECORD'), +('364039','Angiocentric cutaneous T-cell lymphoma of childhood'), +('364039','HVLL'), +('364039','Hydroa-like cutaneous T-cell lymphoma'), +('364043','ALK+ LBCL'), +('364043','ALK+ large B-cell lymphoma'), +('364033','Systemic EBV+ T-cell LPD of childhood'), +('364033','Systemic EBV-positive T-cell lymphoproliferative disease of childhood'), +('772','IRD'), +('1194','Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency'), +('1194','Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency'), +('1194','Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency'), +('363999','NIHF'), +('363999','Non-immune HF'), +('363999','Non-immune fetal edema'), +('363999','Non-immune fetal hydrops'), +('364013','IHF'), +('364013','Immune HF'), +('364013','Immune fetal edema'), +('364013','Immune fetal hydrops'), +('363992','15q26.3 microdeletion syndrome'), +('363976','GCT of bone'), +('363976','Osteoclastoma'), +('363981','CMT4B3'), +('363981','Charcot-Marie-Tooth disease with focally folded myelin'), +('363972','CBL syndrome'), +('363972','Noonan syndrome-like disorder with JMML'), +('363958','Del(17)(q21.31)'), +('363958','Monosomy 17q21.31'), +('363746','Balint-Holmes syndrome'), +('363746','Optic ataxia-gaze apraxia-simultanagnosia syndrome'), +('363722','AxD type II'), +('363717','AxD type I'), +('363710','SCA37'), +('363710','Spinocerebellar ataxia with altered vertical eye movements'), +('363705','Cantu craniofaciofrontodigital syndrome'), +('363700','Von Recklinghausen disease due to NF1 mutation or intragenic deletion'), +('363694','HUPRA syndrome'), +('363680','Del(2)(p13.2)'), +('364541','OPD spectrum disorder'), +('364541','OPSD'), +('364526','Primary osteodysplasia'), +('364526','Primary skeletal dysplasia'), +('364536','Primary osteodysplasia with micromelia'), +('364536','Primary skeletal dysplasia with micromelia'), +('364531','Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments'), +('364531','Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments'), +('363409','LCCS5'), +('363409','Lethal congenital contracture syndrome type 5'), +('363412','HBSL'), +('363432','Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency'), +('363432','SCAR18'), +('363424','IBA57 deficiency'), +('363424','MMDS3'), +('363314','Familial intestinal polyposis'), +('363396','High myopia-sensorineural hearing loss syndrome'), +('363400','Severe neurodegenerative syndrome due to BSCL2 deficiency'), +('363618','LCPS'), +('363623','Autosomal recessive limb-girdle muscular dystrophy type 2T'), +('363623','GMPPB-related LGMD R19'), +('363623','LGMD type 2T'), +('363623','LGMD2T'), +('363623','Limb-girdle muscular dystrophy type 2T'), +('363629','GMPPB-related CMD'), +('363649','MDP syndrome'), +('363649','MDPL syndrome'), +('363649','Mandibular hypoplasia-hearing loss-progeroid syndrome'), +('363654','XPDS'), +('363659','Dup(20)(q11.2)'), +('363665','Premature aging syndrome, Penttinen type'), +('363543','Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency'), +('363543','LGMD2R'), +('363549','AESD'), +('363549','AIEF'), +('363549','Acute infantile encephalopathy predominantly affecting the frontal lobes'), +('363558','NORSE'), +('363504','Testicular germ cell tumor'), +('363494','Non-dysgerminomatous germ cell tumor of testis'), +('363494','Testicular non seminomatous germ cell tumor'), +('363494','Testicular non-dysgerminomatous germ cell tumor'), +('363523','Shaheen syndrome'), +('363534','mtDNA depletion syndrome, hepatocerebrorenal form'), +('363444','BBIS'), +('363444','Beaulieu-Boycott-Innes syndrome'), +('363454','BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures'), +('363454','SMALED2'), +('363447','Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy'), +('363447','SMALED'), +('363478','Adenocarcinoma of the paratestis'), +('363472','Testicular and paratesticular tumor'), +('363489','Testicular sex cord-stromal tumor'), +('363483','Teratoma of the testis'), +('357332','Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome'), +('357332','Wahab syndrome'), +('357237','SCID due to CARD11 deficiency'), +('356978','Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia'), +('356978','Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria'), +('356978','D,L-2-HGA'), +('356978','D,L-2-hydroxyglutaric acidemia'), +('356947','Del(3)(q26q27)'), +('356947','Monosomy 3q26q27'), +('356961','CDG syndrome type IIm'), +('356961','CDG-IIm'), +('356961','CDG2M'), +('356961','Congenital disorder of glycosylation type 2m'), +('356961','Congenital disorder of glycosylation type IIm'), +('357008','HUS with DGKE deficiency'), +('357001','Del(19)(p13.13)'), +('357001','Monosomy 19p13.13'), +('357043','ALS4'), +('357043','Distal hereditary motor neuropathy with upper motor neuron signs'), +('357043','dHMN with upper motor neuron signs'), +('357074','ARCL2, Debré type'), +('357074','ARCL2, classic type'), +('357074','Autosomal recessive cutis laxa type 2, Debré type'), +('357064','ARCL2, progeroid type'), +('357064','ARCL2B'), +('357064','Autosomal recessive cutis laxa type 2, progeroid type'), +('357058','ARCL2A'), +('357158','Macroblepharon-ectropion-hypertelorism-macrostomia syndrome'), +('357154','OSMF'), +('357131','Effort subclavian vein thrombosis'), +('357131','Paget-Schrotter disease'), +('357131','VTOS'), +('357131','Venous TOS'), +('357131','Venous cervical rib syndrome'), +('357131','Venous costoclavicular syndrome'), +('357131','Venous hyperabduction syndrome'), +('357131','Venous scalenus anticus syndrome'), +('357131','Venous thoracic outlet compression syndrome'), +('357107','ATOS'), +('357107','Arterial TOS'), +('357107','Arterial cervical rib syndrome'), +('357107','Arterial costoclavicular syndrome'), +('357107','Arterial hyperabduction syndrome'), +('357107','Arterial scalenus anticus syndrome'), +('357107','Arterial thoracic outlet compression syndrome'), +('352657','HBID'), +('352657','Hereditary benign corneal intraepithelial dyskeratosis'), +('352641','Autosomal recessive cerebellar ataxia due to GBA2 deficiency'), +('352636','Phalangeal osteolysis'), +('352596','PMED'), +('352596','Progressive myoclonus epilepsy with dystonia'), +('352629','Del(16)(q24.1)'), +('352629','Monosomy 16q24.1'), +('352577','Bainbridge-Ropers syndrome'), +('352587','Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome'), +('352582','FIME'), +('352582','Familial infantile myoclonus epilepsy'), +('352731','OCA1'), +('352734','MP OCA type 1'), +('352734','OCA1-MP'), +('352737','OCA1-TS'), +('352737','TS OCA type 1'), +('352712','FILS syndrome'), +('352718','Retinol dystrophy-iris coloboma-comedogenic acne syndrome'), +('352723','Atypical Chédiak-Higashi syndrome'), +('352687','Lissencephaly type 2 with muscular and ocular involvement'), +('352687','MDDGA'), +('352694','Lissencephaly type 2A'), +('352699','Lissencephaly type 2C'), +('352704','Lissencephaly type 2B'), +('352665','9q21.3 microdeletion syndrome'), +('352665','Del(9)(q21.3)'), +('352670','CMTDIF'), +('352675','CMT6X'), +('352675','CMTX6'), +('352682','Cobblestone lissencephaly without muscular or eye involvement'), +('352682','Lissencephaly type 2 without muscular or eye involvement'), +('352682','Lissencephaly type 2 without muscular or ocular involvement'), +('353253','BMS'), +('353253','Oral dysesthesia'), +('353253','Orodynia'), +('353253','Stomatodynia'), +('353253','Stomatopyrosis'), +('353225','POAG'), +('353220','FPLCA'), +('353217','AGC1 deficiency'), +('353217','Mitochondrial aspartate-glutamate carrier 1 deficiency'), +('352763','Buschke scleredema'), +('352745','OCA7'), +('352740','Ocular albinism with congenital sensorineural hearing loss'), +('352740','Waardenburg syndrome type 2 with ocular albinism'), +('353356','Retinal vasoproliferative tumor'), +('353356','VPTR'), +('353356','Vasoproliferative tumor of the ocular fundus'), +('353344','Aneurysmal telangiectasia'), +('353344','Visible and exudative idiopathic juxtafoveolar retinal telangiectasis'), +('353351','Occlusive idiopathic juxtafoveolar retinal telangiectasis'), +('353334','Congenital arteriovenous anastomoses of the retina'), +('353334','Congenital arteriovenous communication of the retina'), +('353334','Congenital retinal arteriovenous anastomoses'), +('353320','Pyruvate carboxylase deficiency type C'), +('353308','Pyruvate carboxylase deficiency type A'), +('353314','Pyruvate carboxylase deficiency type B'), +('353298','Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome'), +('352403','Ataxie spinocérébelleuse à début infantile avec retard psychomoteur'), +('352403','Autosomal recessive spinocerebellar ataxia type 14'), +('352403','Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome'), +('352403','SCAR14'), +('352403','SPARCA'), +('352403','SPARCA1'), +('352403','Spectrin-associated autosomal recessive cerebellar ataxia type 1'), +('352333','Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome'), +('352328','3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome'), +('352328','3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome'), +('352447','Mitochondrial DNA maintenance syndrome due to MGME1 deficiency'), +('352447','PEO-myopathy-emaciation syndrome'), +('352447','mtDNA maintenance syndrome due to MGME1 deficiency'), +('352530','Autosomal recessive intellectual disability due to TRAPPC9 deficiency'), +('352563','COXPD16'), +('352563','Combined oxidative phosphorylation defect type 16'), +('352540','Oncogenic hypophosphatemic osteomalacia'), +('352540','TIO'), +('352540','Tumor-induced osteomalacia'), +('352479','Autosomal recessive limb-girdle muscular dystrophy type 2U'), +('352479','ISPD-related LGMD R20'), +('352479','LGMD type 2U'), +('352479','LGMD2U'), +('352479','Limb-girdle muscular dystrophy type 2U'), +('352482','Autosomal recessive LGMD with cerebellar involvement'), +('352456','mtDNA maintenance syndrome'), +('352470','Mitochondrial DNA deletion syndrome with limb-girdle weakness'), +('352470','Mitochondrial DNA deletion syndrome with progressive myopathy'), +('352470','mtDNA deletion syndrome with limb-girdle weakness'), +('352470','mtDNA deletion syndrome with progressive myopathy'), +('352504','L-DOPA-unresponsive juvenile parkinsonism'), +('352490','ASD due to AUTS2 deficiency'), +('352490','AUTS2 syndrome'), +('294942','Postaxial polydactyly of hand'), +('294939','Preaxial polydactyly of hand'), +('294931','Fingers absent'), +('294929','Terminal meromelia'), +('294927','Intercalary meromelia'), +('294415','Ivemark II syndrome'), +('294415','Renohepaticopancreatic dysplasia'), +('294422','CIF'), +('294049','Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome'), +('293987','ROHHAD'), +('293987','ROHHADNET'), +('293987','Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome'), +('294016','MIC-CAP syndrome'), +('294016','MIC-CM syndrome'), +('294016','Microcephaly-cutaneous capillary malformation syndrome'), +('294026','Syndactyly-nystagmus syndrome due to dup(2)(q31.1)'), +('294026','Syndactyly-nystagmus syndrome due to trisomy 2q31.1'), +('293967','Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome'), +('293978','DAVID syndrome'), +('293958','HPPD'), +('293958','Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome'), +('293948','Del(1)(p21.3)'), +('293948','Monosomy 1p21.3'), +('293939','Distal dup(X)q(28)'), +('293939','Distal trisomy Xq28'), +('293936','Autosomal dominant keratoconus with early-onset anterior polar cataracts'), +('293936','Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome'), +('293936','Familial keratoconus with cataract'), +('293936','KTCNCT'), +('293910','Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form'), +('293910','Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form'), +('293910','Familial isolated arrhythmogenic ventricular dysplasia, classic form'), +('293899','Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form'), +('293888','Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form'), +('293848','RTLA'), +('293848','rvFTD'), +('293843','Craniofacial-ulnar-renal syndrome'), +('293843','Malpuech-Michels-Mingarelli-Carnevale syndrome'), +('293825','CDA IV'), +('293825','CDA due to KLF1 mutation'), +('293825','CDA type 4'), +('293825','CDA type IV'), +('293825','CDAN4'), +('293825','Congenital dyserythropoietic anemia due to KLF1 mutation'), +('293825','Congenital dyserythropoietic anemia type 4'), +('293725','BMRS type V'), +('293725','BMRS, Verloes type'), +('293725','Blepharophimosis-intellectual disability syndrome type V'), +('293642','BMRS'), +('293707','BMRS, MKB type'), +('293707','BMRS, Maat-Kievit-Brunner type'), +('293707','Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type'), +('293707','X-linked Ohdo syndrome'), +('293633','PYCR1 deficiency'), +('293633','Pyrroline-5-carboxylate reductase 1 deficiency'), +('295075','Ulnar longitudinal meromelia, unilateral'), +('295073','Ulnar longitudinal meromelia, bilateral'), +('295079','Tibial longitudinal meromelia, bilateral'), +('295077','Tibial longitudinal meromelia, unilateral'), +('295083','Fibular longitudinal meromelia, bilateral'), +('295081','Fibular longitudinal meromelia, unilateral'), +('295087','Humero-radio-ulnar intercalary transverse meromelia, bilateral'), +('295085','Humero-radio-ulnar intercalary transverse meromelia, unilateral'), +('295063','Humeral intercalary meromelia, bilateral'), +('295061','Humeral intercalary meromelia, unilateral'), +('295067','Femoral intercalary meromelia, bilateral'), +('295065','Femoral intercalary meromelia, unilateral'), +('295071','Radial longitidinal meromelia, bilateral'), +('295069','Radial longitidinal meromelia, unilateral'), +('295044','Macrodactyly of hand'), +('295047','Macrodactyly of foot'), +('295022','Congenital pseudarthrosis of the fibula'), +('295024','Congenital pseudarthrosis of the radius'), +('295026','Congenital pseudarthrosis of the ulna'), +('295028','Tibio-fibular fusion'), +('295032','Isolated congenital elbow dislocation'), +('295012','Mitten hand'), +('295012','Syndactyly, mitten type'), +('295012','Unilateral syndactyly of digits 2-5'), +('295010','Central polydactyly of foot'), +('295010','Mesoaxial polydactyly of toes'), +('295010','Mirror foot'), +('295008','Postaxial polydactyly of foot'), +('295006','Bifid great toes'), +('295006','Bifid halluces'), +('295006','Bifid hallux'), +('295006','Preaxial polydactyly of foot'), +('295020','Congenital pseudarthrosis of the femur'), +('295018','Congenital pseudarthrosis of the tibia'), +('294996','Short fingers'), +('294992','Ectrodactyly of hand'), +('294990','Digits 2-5 hypodactyly'), +('294990','Digits 2-5 oligodactyly'), +('295004','Mesoaxial polydactyly'), +('295002','Supernumerary phalanges'), +('295002','Supernumerary phalanx'), +('295000','Amniotic band sequence'), +('295000','Amniotic band syndrome'), +('295000','Congenital ring constrictions'), +('295000','Constriction band syndrome'), +('295000','Streeter dysplasia'), +('294998','Short toes'), +('294977','Femorotibiofibular intercalary transverse meromelia'), +('294979','Radio-ulnar terminal transverse meromelia'), +('294973','Congenital absence of humerus'), +('294973','Congenital hypoplasia of humerus'), +('294973','Humeral intercalary meromelia'), +('294975','Humero-radio-ulnar intercalary transverse meromelia'), +('294986','Congenital absence of foot'), +('294988','Congenital absence/hypoplasia of thumb'), +('294988','Thumb hypodactyly'), +('294988','Thumb oligodactyly'), +('294981','Tibiofibular terminal transverse meromelia'), +('294983','Congenital absence of hand'), +('294971','Total amelia'), +('294965','LCCS'), +('289891','Glycine N-methyltransferase deficiency'), +('289891','Hypermethioninemia due to GNMT deficiency'), +('289863','Atypical NKA'), +('289863','Atypical non-ketotic hyperglycinemia'), +('289916','Complete deficiency of methylmalonyl-CoA mutase'), +('289916','Vitamin B12-unresponsive methylmalonic aciduria type mut0'), +('289661','EBV-positive DLBCL of the elderly'), +('289666','PBL'), +('289651','EBV-associated carcinoma'), +('289656','EBV-associated mesenchymal tumor'), +('289638','EBV-related tumor'), +('289644','EBV-associated lymphoproliferative disorder'), +('289857','Classic glycine encephalopathy'), +('289857','Neonatal NKH'), +('289857','Neonatal non-ketotic hyperglycinemia'), +('289860','Infantile NKH'), +('289860','Infantile non-ketotic hyperglycinemia'), +('289560','MPAN'), +('289560','NBIA due to C19orf12 mutation'), +('289560','NBIA4'), +('289560','Neurodegeneration with brain iron accumulation due to C19orf12 mutation'), +('289560','Neurodegeneration with brain iron accumulation type 4'), +('289539','Tumor susceptibility linked to germline BAP1 mutations'), +('289601','CALJA'), +('289601','Calcification of joints and arteries'), +('289596','JNA'), +('289586','Autosomal recessive exfoliative ichthyosis'), +('289586','Ichthyosis exfoliativa'), +('293355','Methylmalonic aciduria without homocystinuria'), +('293375','GWCD'), +('293381','Dystrophia Helsinglandica'), +('293381','Dystrophia Smolandiensis'), +('293381','ERED'), +('293381','Recurrent hereditary corneal erosions'), +('293462','PDCD'), +('293603','Autosomal recessive CHED'), +('293603','Autosomal recessive congenital hereditary endothelial dystrophy'), +('293603','CHED2'), +('293603','CHEDII'), +('293603','Congenital hereditary endothelial dystrophy type 2'), +('293603','Infantile hereditary endothelial dystrophy'), +('293603','Maumenee corneal dystrophy'), +('293621','XECD'), +('811','Pancreatic insufficiency and bone marrow dysfunction'), +('811','SDS'), +('811','Shwachman syndrome'), +('811','Shwachman-Bodian-Diamond syndrome'), +('293150','Hereditary clubfoot due to PITX1 point mutation'), +('293144','Hereditary clubfoot due to 5q31 microdeletion'), +('293168','IAHSP'), +('293165','Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome'), +('428','AD hypocalcemia'), +('293181','Epilepsy of infancy with migrating focal seizures'), +('293181','MMPEI'), +('293181','MMPSI'), +('293181','MPEI'), +('293181','MPSI'), +('293181','Malignant migrating partial epilepsy of infancy'), +('293181','Malignant migrating partial seizures of infancy'), +('293181','Migrating partial epilepsy of infancy'), +('293181','Migrating partial seizures of infancy'), +('293173','AGEP'), +('293173','Pustular drug eruption'), +('293173','Toxic pustuloderma'), +('393','46,XX testicular DSD'), +('393','De la Chapelle syndrome'), +('393','XX, male syndrome'), +('293284','BH4-responsive HPA/PKU'), +('293284','BH4-responsive hyperphenylalaninemia/phenylketonuria'), +('293284','Tetrahydrobiopterin-responsive HPA/PKU'), +('293208','Dunbar syndrome'), +('293208','MALS'), +('293208','Median arcuate ligament syndrome'), +('2459','Mansonellosis'), +('2394','DLD deficiency'), +('2394','Dihydrolipoamide dehydrogenase deficiency'), +('2394','E3-deficient maple syrup urine disease'), +('829','AOSD'), +('829','Wissler-Fanconi syndrome'), +('1929','Rasmussen syndrome'), +('1183','Ataxo-opso-myoclonus syndrome'), +('1183','Dancing eye syndrome'), +('1183','Dancing eye-dancing feet syndrome'), +('1183','Kinsbourne syndrome'), +('1183','OMA syndrome'), +('1183','OMS'), +('1183','Opsoclonus-myoclonus-ataxia syndrome'), +('1183','POMA syndrome'), +('1183','Paraneoplastic opsoclonus-myoclonus'), +('1183','Paraneoplastic opsoclonus-myoclonus-ataxia syndrome'), +('2688','Adult chronic idiopathic neutropenia'), +('890','Sinusoidal obstruction syndrome'), +('231','Dracunculosis'), +('231','Guinea worm disease'), +('231','Medina worm disease'), +('231','Medinensis'), +('80','APS'), +('80','Antiphospholipid antibody syndrome'), +('80','Familial lupus anticoagulant'), +('80','Hughes syndrome'), +('284448','Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids'), +('284454','AZOOR'), +('284460','AAOR'), +('284417','PSAT deficiency, infantile/juvenile form'), +('284426','GSD due to lactate dehydrogenase M-subunit deficiency'), +('284426','GSD type 11'), +('284426','Glycogen storage disease type 11'), +('284426','Glycogenosis due to lactate dehydrogenase M-subunit deficiency'), +('284426','Glycogenosis type 11'), +('284426','LDH-M subunit deficiency'), +('284426','Lactate dehydrogenase A deficiency'), +('284435','GSD due to lactate dehydrogenase H-subunit deficiency'), +('284435','Glycogenosis due to lactate dehydrogenase H-subunit deficiency'), +('284435','LDH-H subunit deficiency'), +('284435','Lactate dehydrogenase B deficiency'), +('284973','MFS2'), +('284963','MFS1'), +('284979','Neonatal MFS'), +('289362','Non-CNS-localized embryonal carcinoma'), +('289365','Familial VUR'), +('289347','IDH'), +('289347','Infective dermatitis associated with human T-lymphotropic virus type 1'), +('289347','Infective dermatitis associated with human T-lymphotropic virus type I'), +('289356','NGCO'), +('289356','Primary non-gestational ovarian choriocarcinoma'), +('289377','EOMFC'), +('289377','Salih myopathy'), +('289380','Congenital myosclerosis, Löwenthal type'), +('289290','ADK hypermethioninemia'), +('289290','Hypermethioninemia encephalopathy due to ADK deficiency'), +('289326','HAM/TSP'), +('289326','HTLV-1-associated myelopathy/tropical spastic paraparesis'), +('289326','Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis'), +('289326','Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis'), +('289326','TSP'), +('289307','Developmental delay due to ALDH6A1 deficiency'), +('289307','Developmental delay due to MMSDH deficiency'), +('289504','CMAMMA'), +('289504','Combined malonic and methylmalonic aciduria'), +('289499','CCMCO'), +('289494','POLR-related leukodystrophy'), +('289527','Fatal infantile HCM due to mitochondrial complex I deficiency'), +('289527','Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency'), +('289527','Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency'), +('289522','Tetrasomy 11q24.1'), +('289513','Del(12)(q15)(q21.1)'), +('289513','Deletion 12q15q21.1'), +('289513','Monosomy 12q15q21.1'), +('289465','Congenital absence of fingerprints'), +('289465','Immigration delay disease'), +('289395','Secondary Sjögren-Gougerot syndrome'), +('289390','Primary Sjögren-Gougerot syndrome'), +('289385','Cancer diagnosed during pregnancy'), +('289478','PASH syndrome'), +('289176','ARHR'), +('289157','1-alpha-hydroxylase deficiency'), +('289157','PDDRI'), +('289157','Pseudovitamin D-deficient rickets'), +('289157','VDDI'), +('289157','VDDR-I'), +('289157','Vitamin D dependent rickets type I'), +('289157','Vitamin D-dependency type I'), +('280898','Total uveitis'), +('280892','Choroiditis'), +('280886','Iridocyclitis'), +('281103','KPI'), +('281097','ARCI'), +('281090','Recessive X-linked ichthyosis with extracutaneous manifestations'), +('281090','Syndromic RXLI'), +('281190','CRIE'), +('281190','IWC'), +('281190','Ichthyosis variegata'), +('281190','Ichthyosis with confetti'), +('281201','KLICK syndrome'), +('281139','AEI'), +('281122','SHCB'), +('281122','SICI'), +('281122','Self-healing collodion baby'), +('281122','Self-improving congenital ichthyosis'), +('281127','Acral SHCB'), +('280628','FPHH'), +('280633','Congenital disorder of glycosylation due to PIGN deficiency'), +('280633','PIGN-CDG'), +('280615','Transient neonatal cyanosis and anemia due to Toms River Hemoglobin'), +('280620','EPM6'), +('280620','GOSR2-related progressive myoclonus ataxia'), +('280620','North Sea progressive myoclonus epilepsy'), +('280620','PME type 6'), +('280620','Progressive myoclonus epilepsy type 6'), +('280663','HPS9'), +('280671','Congenital megaconial myopathy'), +('280671','Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect'), +('280671','Congenital muscular dystrophy with mitochondrial structural abnormalities'), +('280640','Occipital MCD'), +('280640','Occipital malformations of cortical development'), +('280779','CCV'), +('280785','Bullous DCM'), +('280794','Infiltrative small vesicular DCM'), +('280794','Infiltrative small vesicular diffuse cutaneous mastocytosis'), +('280794','Pseudoxanthomatous DCM'), +('280802','Congenital intrapulmonary sequestration'), +('280802','Intralobar congenital bronchopulmonary sequestration'), +('280679','Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism'), +('280763','AP4 deficiency syndrome'), +('280774','GET'), +('280840','CCAM type 2'), +('280840','CPAM type 2'), +('280840','Congenital cystic adenomatoid malformation of the lung type 2'), +('280840','Congenital cystic adenomatous malformation of the lung type 2'), +('280840','Congenital cystic disease of the lung type 2'), +('280847','CCAM type 3'), +('280847','CPAM type 3'), +('280847','Congenital cystic adenomatoid malformation of the lung type 3'), +('280847','Congenital cystic adenomatous malformation of the lung type 3'), +('280847','Congenital cystic disease of the lung type 3'), +('280854','CPAM type 4'), +('280854','Congenital cystic adenomatoid malformation of the lung type 4'), +('280854','Congenital cystic adenomatous malformation of the lung type 4'), +('280811','Congenital extrapulmonary sequestration'), +('280811','Extralobar congenital bronchopulmonary sequestration'), +('280827','CPAM type 0'), +('280827','Congenital cystic adenomatoid malformation of the lung type 0'), +('280827','Congenital cystic adenomatous malformation of the lung type 0'), +('280832','CCAM type 1'), +('280832','CPAM type 1'), +('280832','Congenital cystic adenomatoid malformation of the lung type 1'), +('280832','Congenital cystic adenomatous malformation of the lung type 1'), +('280832','Congenital cystic disease of the lung type 1'), +('284149','Kreiborg-Pakistani syndrome'), +('284139','Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome'), +('284180','Dup(X)(p22)'), +('284180','Dup(X)(p22.13p22.2)'), +('284180','Duplication Xp22'), +('284169','10p12p11 microdeletion syndrome'), +('284169','Del(10)(p11.21p12.31)'), +('284169','Deletion 10p11.21p12.31'), +('284169','Monosomy 10p11.21p12.31'), +('284160','Del(8)(q21.11)'), +('284160','Deletion 8q21.11'), +('284160','Monosomy 8q21.11'), +('284247','FRAM'), +('284247','Retinal arterial macroaneurysm and supravalvular pulmonic stenosis'), +('284232','CMT2O'), +('284227','Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome'), +('284271','Autosomal recessive spinocerebellar ataxia type 11'), +('284271','SCAR11'), +('284264','IgG4-related sclerosing disease'), +('284264','IgG4-related systemic disease'), +('284264','Immunoglobulin G4-related sclerosing disease'), +('284324','Autosomal recessive spinocerebellar ataxia type 7'), +('284324','SCAR7'), +('284282','Autosomal recessive spinocerebellar ataxia type 12'), +('284282','SCAR12'), +('284289','Autosomal recessive spinocerebellar ataxia type 10'), +('284289','SCAR10'), +('284343','DICER1 syndrome'), +('284343','PPB familial tumor susceptibility syndrome'), +('284343','PPBFTDS'), +('284343','Pleuro-pulmonary blastoma familial tumor susceptibility syndrome'), +('284332','Autosomal recessive spinocerebellar ataxia type 6'), +('284332','SCAR6'), +('284339','PCH7'), +('284339','Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome'), +('284388','RCVS'), +('284362','FLIT'), +('284362','Immature interstitial mesenchymal tumor'), +('284395','WDFA'), +('284400','Poorly differentiated neuroendocrine carcinoma of the bladder'), +('284400','SCCB'), +('284400','Small cell bladder cancer'), +('284400','Small cell bladder carcinoma'), +('284400','Small cell carcinoma of the urinary bladder'), +('282124','Partial monosomy of chromosome 12'), +('282196','APS'), +('282196','Autoimmune polyglandular syndrome'), +('282166','Inherited CJD'), +('284130','RA'), +('309568','Defect in COG complex'), +('309515','Disorder of glycosphingolipid and GPI-anchored proteins glycosylation'), +('314029','High bone mass OI'), +('314022','Familial fundic gland polyposis with gastric cancer'), +('314022','GAPPS'), +('314002','Dinno syndrome'), +('313947','Dup(2)(q23.1)'), +('313947','Trisomy 2q23.1'), +('313936','Papular epidermal nevi with skyline basal cell layers syndrome'), +('313920','EBV-associated gastric carcinoma'), +('313920','EBVaGC'), +('313906','Neonatal congenital pancreatic cyst'), +('313906','True congenital pancreatic cyst'), +('313884','Del(12)(p12.1)'), +('313884','Monosomy 12p12.1'), +('313855','Perinatal lethal bent bone dysplasia'), +('313838','CRMCC'), +('313838','Cerebroretinal microangiopathy with calcifications and cysts'), +('313808','ALSP'), +('313808','Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia'), +('313808','Autosomal dominant leukoencephalopathy with neuroaxonal spheroids'), +('313808','FPSG'), +('313808','Familial dementia, Neumann type'), +('313808','Familial progressive subcortical gliosis'), +('313808','GPSC'), +('313808','HDLS'), +('313808','Hereditary diffuse leukoencephalopathy with spheroids'), +('313808','POLD'), +('313808','Pigmentary orthochromatic leukodystrophy'), +('313808','Subcortical gliosis of Neumann'), +('313781','20p subtelomeric deletion syndrome'), +('313781','Del(20)(p13)'), +('313781','Monosomy 20p13'), +('313772','AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome'), +('313772','Autosomal recessive spastic ataxia type 5'), +('313772','SPAX5'), +('314603','ARSAL'), +('314603','Autosomal recessive spastic ataxia type 3'), +('314603','SPAX3'), +('314588','Tetrasomy 15(q25-qter)'), +('314588','Tetrasomy 15q26'), +('314485','Autosomal recessive distal spinal muscular atrophy type 5'), +('314485','Young adult-onset dHMN'), +('314485','dSMA5'), +('314566','PPAOS'), +('314555','Hamamy syndrome'), +('314466','Atypical Demons-Meigs syndrome'), +('314466','Incomplete Meigs syndrome'), +('314459','Pseudo-Demons-Meigs syndrome'), +('314451','Demons-Meigs syndrome'), +('314394','SOFT syndrome'), +('314399','Autosomal dominant aplastic anemia and myelodysplasia'), +('314404','ADCA-DN syndrome'), +('314404','Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome'), +('314376','Meconium ileus due to guanylate cyclase 2C deficiency'), +('314381','Familial dysautonomia with contractures'), +('314381','HSAN6'), +('314381','Hereditary sensory and autonomic neuropathy type VI'), +('314389','Dup(X)(q12-q13.3)'), +('314034','Dup(7)(p22.1)'), +('314034','Trisomy 7p22.1'), +('314051','COXPD12'), +('314051','Combined oxidative phosphorylation defect type 12'), +('314051','LTBL'), +('307052','Rare genetic hypokinetic movement disorder'), +('307141','Diffuse PPK'), +('307141','Diffuse keratosis palmoplantaris'), +('307141','Diffuse palmoplantar hyperkeratosis'), +('306682','Manganese intoxication'), +('306682','Manganism'), +('306674','PARK9'), +('306669','HP-HA syndrome'), +('306686','Delayed encephalopathy due to CO poisoning'), +('306741','HD-HA syndrome'), +('306734','DYT21'), +('308380','Functional methionine synthase deficiency type cblDv1'), +('308386','Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A'), +('308386','MOCOD type A'), +('308393','Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B'), +('308393','MOCOD type B'), +('308400','Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C'), +('308400','MOCOD type C'), +('308425','MCEE deficiency'), +('308425','Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency'), +('308425','Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency'), +('308425','Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency'), +('307711','Disease with diffuse palmoplantar hyperkeratosis as a major feature'), +('307148','Isolated diffuse PPK'), +('307148','Isolated diffuse keratosis palmoplantaris'), +('307148','Isolated diffuse palmoplantar hyperkeratosis'), +('307766','CHAC syndrome'), +('307766','CHACS'), +('307804','Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature'), +('307773','Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis'), +('307846','Isolated focal PPK'), +('307846','Isolated focal keratosis palmoplantaris'), +('307846','Isolated focal palmoplantar hyperkeratosis'), +('307837','Focal PPK'), +('307837','Focal keratosis palmoplantaris'), +('307837','Focal palmoplantar hyperkeratosis'), +('307936','HOPP syndrome'), +('307936','Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome'), +('307936','Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome'), +('307936','Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome'), +('307871','Disease with focal palmoplantar hyperkeratosis as a major feature'), +('307995','Marginal papular palmoplantar hyperkeratosis'), +('307967','Punctate PPK'), +('307967','Punctate keratosis palmoplantaris'), +('307967','Punctate palmoplantar hyperkeratosis'), +('308023','Disease with punctate palmoplantar hyperkeratosis as a major feature'), +('308013','PPKP3 without elastoidosis'), +('308013','PPPK3 without elastoidosis'), +('308013','Punctate palmoplantar hyperkeratosis type 3 without elastoidosis'), +('308013','Punctate palmoplantar keratoderma type 3 without elastoidosis'), +('308041','Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature'), +('308031','Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature'), +('308698','GBE deficiency, childhood neuromuscular form'), +('308698','GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form'), +('308698','GSD type 4, childhood neuromuscular form'), +('308698','GSDIV, childhood neuromuscular form'), +('308698','Glycogen storage disease type 4, childhood neuromuscular form'), +('308698','Glycogen storage disease type IV, childhood neuromuscular form'), +('308698','Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form'), +('308698','Glycogenosis type 4, childhood neuromuscular form'), +('308698','Glycogenosis type IV, childhood neuromuscular form'), +('308712','GBE deficiency, adult neuromuscular form'), +('308712','GSD due to glycogen branching enzyme deficiency, adult neuromuscular form'), +('308712','GSD type 4, adult neuromuscular form'), +('308712','GSDIV, adult neuromuscular form'), +('308712','Glycogen storage disease type 4, adult neuromuscular form'), +('308712','Glycogen storage disease type IV, adult neuromuscular form'), +('308712','Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form'), +('308712','Glycogenosis type 4, adult neuromuscular form'), +('308712','Glycogenosis type IV, adult neuromuscular form'), +('308670','GBE deficiency, congenital neuromuscular form'), +('308670','GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form'), +('308670','GSD type 4, congenital neuromuscular form'), +('308670','GSDIV, congenital neuromuscular form'), +('308670','Glycogen storage disease type 4, congenital neuromuscular form'), +('308670','Glycogen storage disease type IV, congenital neuromuscular form'), +('308670','Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form'), +('308670','Glycogenosis type 4, congenital neuromuscular form'), +('308670','Glycogenosis type IV, congenital neuromuscular form'), +('308684','GBE deficiency, childhood combined hepatic and myopathic form'), +('308684','GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form'), +('308684','GSD type 4, childhood combined hepatic and myopathic form'), +('308684','GSDIV, childhood combined hepatic and myopathic form'), +('308684','Glycogen storage disease type 4, childhood combined hepatic and myopathic form'), +('308684','Glycogen storage disease type IV, childhood combined hepatic and myopathic form'), +('308684','Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form'), +('308684','Glycogenosis type 4, childhood combined hepatic and myopathic form'), +('308684','Glycogenosis type IV, childhood combined hepatic and myopathic form'), +('309031','Pancreatic triglyceride lipase deficiency'), +('309015','LPL deficiency'), +('309020','Familial APOC2 deficiency'), +('309020','Familial apoC-II deficiency'), +('308487','Generalized GALE deficiency'), +('308487','Generalized GALE-D'), +('308487','Generalized UDP-galactose-4-epimerase deficiency'), +('308487','Generalized epimerase deficiency galactosemia'), +('308487','Generalized uridine diphosphate galactose-4-epimerase deficiency'), +('178','Notochordal sarcoma'), +('308473','Erythrocyte GALE deficiency'), +('308473','Erythrocyte GALE-D'), +('308473','Erythrocyte UDP-galactose-4-epimerase deficiency'), +('308473','Erythrocyte epimerase deficiency galactosemia'), +('308473','Erythrocyte uridine diphosphate galactose-4-epimerase deficiency'), +('2637','MOPD type II'), +('2637','Majewski osteodysplastic primordial dwarfism type II'), +('592','MMF'), +('308442','Vitamin B12-responsive methylmalonic aciduria, type cblDv2'), +('308655','GBE deficiency, fatal perinatal neuromuscular form'), +('308655','GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form'), +('308655','GSD type 4, fatal perinatal neuromuscular form'), +('308655','GSDIV, fatal perinatal neuromuscular form'), +('308655','Glycogen storage disease type 4, fatal perinatal neuromuscular form'), +('308655','Glycogen storage disease type IV, fatal perinatal neuromuscular form'), +('308655','Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form'), +('308655','Glycogenosis type 4, fatal perinatal neuromuscular form'), +('308655','Glycogenosis type IV, fatal perinatal neuromuscular form'), +('308638','GBE deficiency, non progressive hepatic form'), +('308638','GSD due to glycogen branching enzyme deficiency, non progressive hepatic form'), +('308638','GSD type 4, non progressive hepatic form'), +('308638','GSDIV, non progressive hepatic form'), +('308638','Glycogen storage disease type 4, non progressive hepatic form'), +('308638','Glycogen storage disease type IV, non progressive hepatic form'), +('308638','Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form'), +('308638','Glycogenosis type 4, non progressive hepatic form'), +('308638','Glycogenosis type IV, non progressive hepatic form'), +('308621','GBE deficiency, progressive hepatic form'), +('308621','GSD due to glycogen branching enzyme deficiency, progressive hepatic form'), +('308621','GSD type 4, progressive hepatic form'), +('308621','GSDIV, progressive hepatic form'), +('308621','Glycogen storage disease type 4, progressive hepatic form'), +('308621','Glycogen storage disease type IV, progressive hepatic form'), +('308621','Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form'), +('308621','Glycogenosis type 4, progressive hepatic form'), +('308621','Glycogenosis type IV, progressive hepatic form'), +('308604','Alpha-1,4-glucosidase acid deficiency, adult onset'), +('308604','GSD due to acid maltase deficiency, adult onset'), +('308604','GSD type 2, adulte onset'), +('308604','Glycogen storage disease type 2, adult onset'), +('308604','Glycogenosis due to acid maltase deficiency, adult onset'), +('308604','Glycogenosis type 2, adult onset'), +('308604','Pompe disease, adult onset'), +('308573','Alpha-1,4-glucosidase acid deficiency, juvenile onset'), +('308573','GSD due to acid maltase deficiency, juvenile onset'), +('308573','GSD type 2, juvenile onset'), +('308573','Glycogen storage disease type 2, juvenile onset'), +('308573','Glycogenosis due to acid maltase deficiency, juvenile onset'), +('308573','Glycogenosis type 2, juvenile onset'), +('308573','Pompe disease, juvenile onset'), +('308552','Alpha-1,4-glucosidase acid deficiency, infantile onset'), +('308552','GSD due to acid maltase deficiency, infantile onset'), +('308552','GSD type 2, infantile onset'), +('308552','GSD type II, infantile onset'), +('308552','Glycogen storage disease type 2, infantile onset'), +('308552','Glycogen storage disease type II, infantile onset'), +('308552','Glycogenosis due to acid maltase deficiency, infantile onset'), +('308552','Glycogenosis type 2, infantile onset'), +('308552','Glycogenosis type II, infantile onset'), +('308552','Pompe disease, infantile onset'), +('308520','GSD due to glycogen synthase deficiency'), +('308520','Glycogenosis due to glycogen synthase deficiency'), +('309271','Arylsulfatase A deficiency, adult form'), +('309271','MLD, adult form'), +('309282','Lysosomal alpha-D-mannosidase deficiency, infantile form'), +('309288','Lysosomal alpha-D-mannosidase deficiency, adult form'), +('309246','Hexosaminidase activator deficiency'), +('309256','Arylsulfatase A deficiency, late infantile form'), +('309256','MLD, late infantile form'), +('309263','Arylsulfatase A deficiency, juvenile form'), +('309263','MLD, juvenile form'), +('309324','ISSD'), +('309297','GALNS deficiency'), +('309297','Galactosamine-6-sulfatase deficiency'), +('309297','MPS4A'), +('309297','MPSIVA'), +('309297','Morquio disease type A'), +('309297','Mucopolysaccharidosis type IVA'), +('309297','N-acetylgalactosamine-6-sulfate sulfatase deficiency'), +('309310','Beta-D-galactosidase deficiency'), +('309310','MPS4B'), +('309310','MPSIVB'), +('309310','Morquio disease type B'), +('309310','Mucopolysaccharidosis type IVB'), +('309139','Mitochondrial disorder due to a transcription or a translation defect of mtDNA'), +('309147','Hyperalaninemia'), +('309185','GM2 gangliosidosis, B variant, juvenile form'), +('309185','Hexosaminidase A deficiency, juvenile form'), +('309178','GM2 gangliosidosis, B variant, infantile form'), +('309178','Hexosaminidase A deficiency, infantile form'), +('309239','GM2 gangliosidosis, B1 variant'), +('309239','Hexosaminidase A deficiency, B1 variant'), +('309192','GM2 gangliosidosis, B variant, adult form'), +('309192','Hexosaminidase A deficiency, adult form'), +('309155','Hexosaminidases A and B deficiency, infantile form'), +('309155','Infantile GM2 gangliosidosis 0 variant'), +('309169','Adult GM2 gangliosidosis 0 variant'), +('309169','Hexosaminidases A and B deficiency, adult form'), +('309162','Hexosaminidases A and B deficiency, juvenile form'), +('309162','Juvenile GM2 gangliosidosis 0 variant'), +('300547','Familial infantile hypercalcemia with suppressed intact parathyroid hormone'), +('300552','Follicular pancreatocholangitis'), +('300557','Ampullary carcinoma'), +('300557','Ampulloma'), +('300564','CPFE'), +('300576','Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome'), +('300496','MCAHS type 2'), +('300504','Acanthoma of the nail matrix'), +('300525','PHA2D'), +('300530','PHA2E'), +('300536','CDG syndrome type Ir'), +('300536','CDG-Ir'), +('300536','CDG1R'), +('300536','Carbohydrate deficient glycoprotein syndrome type Ir'), +('300536','Congenital disorder of glycosylation type 1r'), +('300536','Congenital disorder of glycosylation type Ir'), +('300849','DLBCL of the CNS'), +('300846','Aggressive B-cell NHL'), +('300865','Primary C-ALCL'), +('300865','Regressive atypical histiocytosis'), +('300857','THRLBCL'), +('300878','HCL-v'), +('300878','Leukemic reticuloendotheliosis variant'), +('300878','Prolymphocytic variant of HCL'), +('300878','Prolymphocytic variant of hairy cell leukemia'), +('300869','SDRPL'), +('300869','Splenic diffuse red pulp lymphoma'), +('300895','ALK+ ALCL'), +('300895','ALK+ anaplastic large cell lymphoma'), +('300888','DLBCL with chronic inflammation'), +('300605','JALS'), +('300605','Juvenile Charcot disease'), +('300605','Juvenile Lou Gehrig disease'), +('300842','Indolent B-cell NHL'), +('300903','ALK- ALCL'), +('300903','ALK- anaplastic large cell lymphoma'), +('306436','CSID with starch intolerance'), +('306436','Congenital sucrase-isomaltose malabsorption with starch intolerance'), +('306436','Congenital sucrose intolerance with starch intolerance'), +('306436','Disaccharide intolerance with starch intolerance'), +('306431','Acquired adult-onset immunodeficiency'), +('306431','Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies'), +('306462','CSID without starch intolerance'), +('306462','Congenital sucrase-isomaltose malabsorption without starch intolerance'), +('306462','Congenital sucrose intolerance without starch intolerance'), +('306462','Disaccharide intolerance without starch intolerance'), +('306446','CSID with minimal starch tolerance'), +('306446','Congenital sucrase-isomaltose malabsorption with minimal starch tolerance'), +('306446','Congenital sucrose intolerance with minimal starch tolerance'), +('306446','Disaccharide intolerance with minimal starch tolerance'), +('306553','Spherulocytosis'), +('306553','Subcutaneous spherulocystic disease'), +('306542','ALX1-related frontonasal dysplasia'), +('306542','Frontonasal dysplasia type 3'), +('306530','Congenital hereditary facial palsy with variable deafness'), +('306530','Congenital hereditary facial palsy with variable hearing loss'), +('306530','Congenital hereditary facial paralysis with variable deafness'), +('306530','Congenital hereditary facial paralysis-variable deafness syndrome'), +('306516','FHHNC'), +('306516','Michellis-Castrillo syndrome'), +('306511','SPG48'), +('306498','PHTS'), +('306504','Congenital ILNEB syndrome'), +('306504','Congenital NEP syndrome'), +('306504','Congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome'), +('306504','Congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome'), +('306504','Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome'), +('306504','JEB with respiratory and renal involvement'), +('306504','JEB-RR'), +('306474','CSID with starch and lactose intolerance'), +('306474','Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance'), +('306474','Congenital sucrose intolerance with starch and lactose intolerance'), +('306474','Disaccharide intolerance with starch and lactose intolerance'), +('306486','CSID without sucrose intolerance'), +('306486','Congenital sucrose-isomaltose malabsorption without sucrose intolerance'), +('306486','Disaccharide intolerance without sucrose intolerance'), +('306661','Hypercalcemic tumoral calcinosis'), +('306648','Non-infectious iridocyclitis'), +('306636','Rare tumor of liver and IBT'), +('306633','Rare tumor of gallbladder and EBT'), +('306617','SPG1'), +('306597','X-linked Opitz BBB/G syndrome'), +('306597','X-linked Opitz syndrome'), +('306597','XLOS'), +('306588','ADOS'), +('306588','Autosomal dominant Opitz BBB/G syndrome'), +('306588','Autosomal dominant Opitz syndrome'), +('306561','Autosomal dominant childhood-onset progressive cortical cataract'), +('295091','Femorotibiofibular intercalary transverse meromelia, bilateral'), +('295089','Femorotibiofibular intercalary transverse meromelia, unilateral'), +('295095','Radio-ulnar terminal transverse meromelia, bilateral'), +('295093','Radio-ulnar terminal transverse meromelia, unilateral'), +('295099','Tibiofibular terminal transverse meromelia, bilateral'), +('295097','Tibiofibular terminal transverse meromelia, unilateral'), +('295103','Congenital absence of hand, bilateral'), +('295101','Congenital absence of hand, unilateral'), +('295107','Congenital absence of foot, bilateral'), +('295105','Congenital absence of foot, unilateral'), +('295112','Thumb hypodactyly, bilateral'), +('295112','Thumb oligodactyly, bilateral'), +('295110','Thumb hypodactyly, unilateral'), +('295110','Thumb oligodactyly, unilateral'), +('295116','Congenital absence of toes, unilateral'), +('295114','Adactyly of hand, bilateral'), +('295114','Digits 2-5 hypodactyly, bilateral'), +('295114','Digits 2-5 oligodactyly, bilateral'), +('295120','Ectrodactyly of hand, unilateral'), +('295118','Congenital absence of toes, bilateral'), +('295122','Ectrodactyly of hand, bilateral'), +('295128','Short fingers, unilateral'), +('295130','Short fingers, bilateral'), +('295132','Short toes, unilateral'), +('295134','Short toes, bilateral'), +('295140','Hyperphalangy in digits 2-5'), +('295140','Supernumerary phalanges, unilateral'), +('295140','Supernumerary phalanx, unilateral'), +('295142','Supernumerary phalanges, bilateral'), +('295142','Supernumerary phalanx, bilateral'), +('295144','Preaxial polydactyly type 1, unilateral'), +('295146','Preaxial polydactyly type 1, bilateral'), +('295148','Preaxial polydactyly type 2, unilateral'), +('295148','Unilateral PPD2'), +('295150','Bilateral PPD2'), +('295150','Preaxial polydactyly type 2, bilateral'), +('295152','Preaxial polydactyly type 3, unilateral'), +('295161','Preaxial polydactyly type 4, bilateral'), +('295159','Preaxial polydactyly type 4, unilateral'), +('295154','Preaxial polydactyly type 3, bilateral'), +('295171','Mesoaxial polydactyly of fingers, unilateral'), +('295171','Mirror hand, unilateral'), +('295177','Bifid great toes, bilateral'), +('295177','Bifid halluces, bilateral'), +('295177','Bifid hallux, bilateral'), +('295175','Bifid great toes, unilateral'), +('295175','Bifid halluces, unilateral'), +('295175','Bifid hallux, unilateral'), +('295173','Mesoaxial polydactyly of fingers, bilateral'), +('295173','Mirror hand, bilateral'), +('295187','SD1, Weidenreich type'), +('295187','SD1a'), +('295187','Syndactyly type 1, Weidenreich type'), +('295187','Syndactyly type 1a'), +('295187','Zygodactyly, Weidenreich type'), +('295185','Mesoaxial polydactyly of toes, bilateral'), +('295185','Mirror foot, bilateral'), +('295183','Mesoaxial polydactyly of toes, unilateral'), +('295183','Mirror foot, unilateral'), +('295193','SD1, Castilla type'), +('295193','SD1d'), +('295193','Syndactyly type 1, Castilla type'), +('295193','Syndactyly type 1d'), +('295193','Zygodactyly, Castilla type'), +('295195','SD2, Vordingborg type'), +('295195','SD2a'), +('295195','SPD, Vordingborg type'), +('295195','SPD1'), +('295195','Synpolydactyly, Vordingborg type'), +('295189','SD1, Lueken type'), +('295189','SD1b'), +('295189','Syndactyly type 1, Lueken type'), +('295189','Syndactyly type 1b'), +('295189','Zygodactyly, Lueken type'), +('295191','SD1, Montagu type'), +('295191','SD1c'), +('295191','Syndactyly type 1, Montagu type'), +('295191','Syndactyly type 1c'), +('295191','Zygodactyly, Montagu type'), +('295197','SD2, Debeer type'), +('295197','SD2b'), +('295197','SPD, Debeer type'), +('295197','SPD2'), +('295197','Synpolydactyly, Debeer type'), +('295199','SD2, Malik type'), +('295199','SD2c'), +('295199','SPD, Malik type'), +('295199','SPD3'), +('295199','Synpolydactyly, Malik type'), +('295209','Humero-radial fusion, unilateral'), +('295211','Humero-radial fusion, bilateral'), +('295205','Humero-radio-ulnar fusion, unilateral'), +('295207','Humero-radio-ulnar fusion, bilateral'), +('295217','Radio-ulnar fusion, unilateral'), +('295219','Radio-ulnar fusion, bilateral'), +('295213','Humero-ulnar fusion, unilateral'), +('295215','Humero-ulnar fusion, bilateral'), +('295241','Macrodactyly of hand, bilateral'), +('295239','Macrodactyly of hand, unilateral'), +('295245','Macrodactyly of foot, bilateral'), +('295243','Macrodactyly of foot, unilateral'), +('300179','Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness'), +('300179','Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss'), +('300179','FKBP14-related EDS'), +('300179','FKBP22-deficient EDS'), +('300179','Kyphoscoliotic EDS due to FKBP22 deficiency'), +('300179','kEDS-FKBP14'), +('300319','CMT2P'), +('300324','PPBL'), +('300324','Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes'), +('300313','Congenital cataract-deafness-severe developmental delay syndrome'), +('300313','Huppke-Brendel syndrome'), +('300313','Lethal neurodegenerative disorder due to copper transport defect'), +('300298','Severe congenital hypochromic sideroblastic anemia'), +('300305','Dup(11)p(15.4)'), +('300305','Trisomy 11p15.4'), +('300284','Bone fragility-contractures-arterial rupture-deafness syndrome'), +('300284','Bone fragility-contractures-arterial rupture-hearing loss syndrome'), +('300284','Connective tissue disorder due to LH3 deficiency'), +('300293','Transient infantile hypertriglyceridemia and fatty liver'), +('300373','Familial infantile gigantism'), +('300373','Hereditary infantile gigantism'), +('300373','Hereditary pituitary hyperplasia'), +('300373','Infantile gigantism due to pituitary hyperplasia'), +('300373','X-LAG'), +('300345','Autosomal SLE'), +('300345','Familial SLE'), +('300345','Familial systemic lupus erythematosus'), +('300359','FACU'), +('300359','Familial atypical cold urticaria'), +('300359','Familial cold urticaria with common variable immunodeficiency'), +('300359','PLAID'), +('300333','Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome'), +('464760','Familial CODA'), +('465508','Symptomatic form of HFE-related hereditary hemochromatosis'), +('465508','Symptomatic form of classic hemochromatosis'), +('464282','SPPRS syndrome'), +('464282','Spastic paraplegia-psychomotor retardation-seizures syndrome'), +('464288','SBIDDS'), +('464321','Cutaneovisceral angiomatosis-thrombocytopenia syndrome'), +('464321','MLT'), +('464321','Multifocal lymphangioendotheliomatosis with thrombocytopenia'), +('464311','DYRK1A-related intellectual disability syndrome due to a point mutation'), +('464366','Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome'), +('464343','CAPS'), +('464343','Catastrophic APS'), +('464336','B-cell expansion with NF-kB and T-cell anergy disease'), +('464453','Drug-induced methemoglobinemia'), +('464443','CDG syndrome type IIL'), +('464443','CDG-IIL'), +('464443','CDG2L'), +('464443','Congenital disorder of glycosylation type 2l'), +('464443','Congenital disorder of glycosylation type IIL'), +('464463','Gastric adenocarcinoma'), +('464458','Acetaminophen poisoning'), +('639','Anti-MAG neuropathy'), +('639','Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein'), +('662','Lymphedema with yellow nails'), +('662','YNS'), +('537','Lyell syndrome'), +('793','Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome'), +('456298','Del(1)(p35.2)'), +('456298','Deletion 1p35.2'), +('456298','Monosomy 1p35.2'), +('456328','Xq28 contiguous gene deletion syndrome'), +('456333','Hereditary neuroendocrine tumor of small bowel'), +('456312','IMNEPD'), +('456318','HSAN1E'), +('456318','HSN1E'), +('456318','Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome'), +('454840','NTHL1-related AFAP'), +('454840','NTHL1-related attenuated FAP'), +('454831','Acute radiation sickness'), +('454718','Adie syndrome'), +('454718','Tonic pupil-tendon areflexia syndrome'), +('454714','PCL'), +('454750','H-type tracheoesophageal fistula'), +('453521','SCAR17'), +('453521','Spinocerebellar ataxia autosomal recessive type 17'), +('454706','PMA'), +('453499','Au-Kline syndrome'), +('453510','Congenital absence of pain with severe intellectual disability'), +('453510','Congenital analgesia with severe intellectual disability'), +('453510','Congenital insensitivity to pain with preserved temperature sensation'), +('453510','Congenital insensitivity to pain with severe non-progressive cognitive delay'), +('449566','IgG4-related eosinophilic angiocentric fibrosis'), +('449432','IgG4-related sialadenitis'), +('449432','Küttner tumor'), +('449427','Idiopathic hypertrophic pachymeningitis'), +('448372','Familial infantile gigantism due to Xq26 microduplication'), +('448372','Familial infantile gigantism due to dup(X)q(26)'), +('448372','X-LAG due to dup(X)q(26)'), +('448348','Familial infantile gigantism due to a point mutation'), +('448348','X-LAG (X-linked acrogigantism) due to a point mutation'), +('448251','Lichtenstein-Knorr syndrome'), +('448251','Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome'), +('448251','SCAR19'), +('448010','CDG syndrome type Iz'), +('448010','CDG-Iz'), +('448010','CDG1Z'), +('448010','Carbohydrate deficient glycoprotein syndrome type Iz'), +('448010','Congenital disorder of glycosylation type 1z'), +('447997','ASCT1 deficiency'), +('447997','Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome'), +('448242','Brachyolmia, Hobaek/Toledo type'), +('448237','Zika virus infection'), +('447985','Partial duplication of chromosome 19p'), +('447985','Partial trisomy of chromosome 19p'), +('447985','Partial trisomy of the short arm of chromosome 19'), +('447980','Dup(19)(p13.13)'), +('447954','COXPD25'), +('447964','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation'), +('447964','CMT2V'), +('447964','Hereditary adult-onset painful axonal polyneuropathy'), +('459537','Genetic hemangiolymphangioma'), +('459033','AOA4'), +('459051','SED, Stanescu type'), +('459061','Developmental delay-short stature-dysmorphic features-sparse hair syndrome'), +('459056','SPG75'), +('459074','7q36.3 microduplication syndrome'), +('459074','Dup(7)(q36.3)'), +('458718','Idiopathic SCAD'), +('458768','Dabska tumor'), +('458792','Mixed cystic lymphangioma'), +('458798','SCA41'), +('458803','SCA42'), +('457485','MINDS syndrome'), +('457485','Smith-Kingsmore syndrome'), +('457265','EPM9'), +('457265','PME type 9'), +('457265','Progressive myoclonic epilepsy due to LMNB2 deficiency'), +('457265','Progressive myoclonus epilepsy type 9'), +('457252','OTSCC'), +('457252','Oral tongue squamous cell carcinoma'), +('457246','CCSK'), +('457406','MMDS4'), +('457375','Martsolf-like syndrome'), +('457378','Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type'), +('457351','Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome'), +('457185','COQ4-related neonatal encephalomyopathy'), +('457083','SGF'), +('457077','Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome'), +('457088','Invasive candidiasis-deep dermatophytosis syndrome'), +('457223','Syndromic sensorineural deafness due to COXPD'), +('457223','Syndromic sensorineural hearing loss due to COXPD'), +('457205','ANOAC'), +('457205','Axonal neuropathy-optic atrophy-cognitive deficit syndrome'), +('651','Congenital idiopathic nystagmus'), +('651','Infantile nystagmus syndrome'), +('651','Motor congenital nystagmus'), +('317','EKV'), +('317','Erythrokeratodermia variabilis, Mendes da Costa type'), +('629','Kowarski syndrome'), +('248','AR-HED'), +('248','Autosomal recessive anhidrotic ectodermal dysplasia'), +('1810','AD-HED'), +('1810','Autosomal dominant anhidrotic ectodermal dysplasia'), +('3437','Uveomenigitic syndrome'), +('2032','CFA'), +('2032','Cryptogenic fibrosing alveolitis'), +('2032','UIP'), +('2032','Usual interstitial pneumonia'), +('1303','Constrictive bronchiolitis'), +('1303','Obliterative bronchiolitis'), +('3348','Tracheopathia osteoplastica'), +('2902','Chronic eosinophilic pneumonia'), +('1302','BOOP'), +('1302','Bronchiolitis obliterans organizing pneumonia'), +('1302','COP'), +('198','EDS IX'), +('198','Ehlers-Danlos syndrome type 9'), +('198','Ehlers-Danlos syndrome type IX'), +('198','X-linked cutis laxa'), +('891','Criswick-Schepens syndrome'), +('891','FEVR'), +('225','MIDD'), +('225','Maternally-inherited diabetes and hearing loss'), +('225','Mitochondrial diabetes'), +('466682','Euthyroid Graves ophthalmopathy'), +('466650','Exertional heat stroke'), +('466962','SMARCA4-deficient thoracic sarcoma'), +('466926','SSM syndrome'), +('466934','VPS11-related autosomal recessive hypomyelinating leukoencephalopathy'), +('466801','Autosomal recessive limb-girdle muscular dystrophy type 2W'), +('466801','LGMD type 2W'), +('466801','LGMD2W'), +('466801','LIMS2-related LGM'), +('466801','Limb-girdle muscular dystrophy type 2W'), +('466794','Autosomal recessive spinocerebellar ataxia type 21'), +('466794','SCAR21'), +('466784','COXPD28'), +('466784','Combined oxidative phosphorylation defect type 28'), +('466775','ARCMT2X'), +('466775','Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation'), +('466775','CMT2X'), +('466768','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation'), +('466768','CMT2Z'), +('466732','Gillessen-Kaesbach-Nishimura syndrome'), +('466722','SPG77'), +('466718','MCRPE'), +('466703','CDG syndrome type IIp'), +('466703','CDG-IIp'), +('466703','CDG2P'), +('466703','Carbohydrate deficient glycoprotein syndrome type IIp'), +('466703','Congenital disorder of glycosylation type 2p'), +('466703','Congenital disorder of glycosylation type IIp'), +('466026','Class I G6PD deficiency'), +('466026','Severe hemolytic anemia due to G6PD deficiency'), +('467166','Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome'), +('468635','CMUSE'), +('468641','CEAS'), +('468661','SPG74'), +('468678','White-Sutton syndrome'), +('468684','CDG syndrome type IIo'), +('468684','CDG-IIo'), +('468684','CDG2O'), +('468684','Carbohydrate deficient glycoprotein syndrome type IIo'), +('468684','Congenital disorder of glycosylation type 2o'), +('468684','Congenital disorder of glycosylation type IIo'), +('468672','MACOM syndrome'), +('468726','TMAU'), +('468699','CDG syndrome type IIn'), +('468699','CDG-IIn'), +('468699','CDG2N'), +('468699','Carbohydrate deficient glycoprotein syndrome type IIn'), +('468699','Congenital disorder of glycosylation type 2n'), +('468699','Congenital disorder of glycosylation type IIn'), +('468699','SLC39A8 deficiency'), +('401785','SPG62'), +('401780','SPG61'), +('401800','SPG60'), +('401795','SPG59'), +('401764','Trilineage bone marrow failure-developmental delay syndrome'), +('401777','BBSOAS'), +('401777','Bosch-Boonstra-Schaaf optic atrophy syndrome'), +('401825','SPG68'), +('401830','SPG69'), +('401835','SPG70'), +('401840','SPG71'), +('401805','SPG63'), +('401810','SPG64'), +('401815','SPG66'), +('401820','SPG67'), +('401866','Childhood-onset spasticity with variant non-ketotic hyperglycinemia'), +('401866','Spasticity-ataxia-gait anomalies syndrome'), +('401869','MMDS1'), +('401869','NFU1 deficiency'), +('401874','BOLA3 deficiency'), +('401874','MMDS2'), +('401849','SPG72'), +('401854','Lipoate biosynthesis defect'), +('400003','Rare genetic disorder due to impaired sperm transport'), +('399998','Male infertility due to impaired sperm transport of genetic origin'), +('399983','Rare male infertility due to gonadotropic axis disorder of genetic origin'), +('399983','Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin'), +('399877','Rare female infertility due to ovarian dysgenesis'), +('400011','Rare female infertility due to gonadotropic axis disorder of genetic origin'), +('400011','Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin'), +('402823','HDV'), +('402823','Hepatitis D virus'), +('401920','FHCC'), +('401920','Fibrolamellar hepatocarcinoma'), +('401911','AXIN2-related AFAP'), +('401911','AXIN2-related attenuated FAP'), +('401911','AXIN2-related attenuated familial polyposis coli'), +('401901','C9ORF72-related Huntington disease phenocopy'), +('401901','C9ORF72-related Huntington disease-like syndrome'), +('401901','Huntington disease phenocopy due to C9ORF72 expansions'), +('401935','Del(14)(q24.1q24.3)'), +('401935','Monosomy 14q24.1q24.3'), +('401923','Del(9)(q31.1q31.3)'), +('401923','Monosomy 9q31.1q31.3'), +('401953','Episodic ataxia type 8'), +('401948','CA-VA deficiency'), +('401986','Del(1)(p31p32)'), +('401986','Monosomy 1p31p32'), +('401973','Male EBP disorder with neurological defects'), +('401964','Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons'), +('401964','CMT2 with giant axons'), +('401964','HMSN2 with giant axons'), +('401996','KIN'), +('401996','Systemic karyomegaly'), +('402017','AML with t(9;11)(p22;q23)'), +('402020','AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)'), +('402014','AML with t(6;9)(p23;q34)'), +('402029','EGID'), +('402023','Megakaryoblastic AML with t(1;22)(p13;q13)'), +('402026','AML with NPM1 somatic mutations'), +('402082','EPM5'), +('402082','PME type 5'), +('402082','Progressive myoclonus epilepsy type 5'), +('402041','AR dRTA'), +('402041','Autosomal recessive distal RTA'), +('402075','Familial BAV'), +('404580','Juvenile polyarthritis'), +('404580','Juvenile polyarticular arthritis'), +('404580','Polyarticular JIA'), +('404584','Rare genetic skeletal development disorder'), +('404473','CTNNB1 syndrome'), +('404454','NGLY1 deficiency'), +('404454','NGLY1-CDDG'), +('404443','DNMT3A-related overgrowth syndrome'), +('404443','Tatton-Brown-Rahman overgrowth syndrome'), +('404448','ADNP-related syndromic intellectual disability-autism spectrum disorder'), +('404448','HVDAS'), +('404448','Helsmoortel-Van Der Aa Syndrome'), +('404560','B-K mole syndrome'), +('404560','FAMM-PC syndrome'), +('404560','FAMMM syndrome'), +('404560','Familial atypical mole syndrome'), +('404560','Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome'), +('404560','Familial dysplastic nevus syndrome'), +('404560','Melanoma-pancreatic cancer syndrome'), +('404553','Vasculitis due to DADA2'), +('404546','Deficiency of IL-36R antagonist'), +('404546','Deficiency of IL-36Ra'), +('404538','X-linked dHMN'), +('404538','X-linked distal spinal muscular atrophy'), +('404521','Diaphragmatic spinal muscular atrophy type 2'), +('404521','SMARD2'), +('404521','Severe infantile axonal neuropathy with respiratory failure type 2'), +('404521','X-linked spinal muscular atrophy with respiratory distress'), +('404499','Autosomal recessive spinocerebellar ataxia type 15'), +('404499','SCAR15'), +('404499','Salih ataxia'), +('404493','SCAR23'), +('404493','Spinocerebellar ataxia autosomal recessive type 23'), +('404476','GLOW syndrome'), +('411527','CRVO'), +('411536','Mild PRPP synthetase superactivity'), +('411536','Mild PRPS1 superactivity'), +('411543','Severe PRPP synthetase superactivity'), +('411543','Severe PRPS1 superactivity'), +('411593','Hirata disease'), +('411602','Autosomal dominant late-onset Parkinson disease'), +('411602','LOPD'), +('411493','CLP1-related pontocerebellar hypoplasia'), +('411493','PCH10'), +('411777','GEKA'), +('411777','Generalized eruptive keratoacanthomas of Grzybowski'), +('411777','Grzybowski syndrome'), +('411986','Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome'), +('412035','Del(13)(q12.3)'), +('412035','Monosomy 13q12.3'), +('412022','FDLAB syndrome'), +('412022','Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome'), +('412022','Traboulsi syndrome'), +('411641','Adult-onset cystinosis'), +('411641','Non-nephropathic cystinosis'), +('411634','Intermediate cystinosis'), +('411634','Juvenile cystinosis'), +('411696','PPI-REE'), +('411696','PPI-responsive esophageal eosinophilia'), +('411696','PPIRee'), +('411703','Non-tuberculous mycobacterial lung disease'), +('371235','CDG with developmental anomaly'), +('371207','CDG with nephropathy as a major feature'), +('371200','CDG with skin involvement'), +('371212','CDG with deafness as a major feature'), +('371212','CDG with hearing loss as a major feature'), +('371212','Congenital disorder of glycosylation with hearing loss as a major feature'), +('371428','MONA spectrum'), +('371428','NAO syndrome'), +('371428','Nodulosis-arthropathy-osteolysis syndrome'), +('371428','Torg-Winchester syndrome'), +('371364','IHPRF syndrome'), +('371364','Infantile hypotonia-psychomotor retardation-characteristic facies syndrome'), +('391677','SOPH syndrome'), +('391723','Appendiceal mucinous adenocarcinoma'), +('391799','Rare genetic dystonic disorder'), +('391479','Syndromic median cleft syndrome'), +('391474','ALX3-related frontonasal dysplasia'), +('391474','Frontonasal dysplasia type 1'), +('391474','Isolated median cleft face syndrome'), +('391504','NMG'), +('391504','Neonatal myasthenia gravis'), +('391504','Transient neonatal acquired myasthenia'), +('391504','Transient neonatal autoimmune myasthenia gravis'), +('391497','Childhood myasthenia gravis'), +('391497','Juvenile acquired myasthenia'), +('391497','Juvenile autoimmune myasthenia gravis'), +('391490','Adult-onset acquired myasthenia'), +('391490','Adult-onset autoimmune myasthenia gravis'), +('391646','Brachydactyly-short stature-microcephaly syndrome'), +('391646','Brunner-Winter syndrome type 2'), +('391646','FGLDS2'), +('391646','FS2'), +('391646','MMT type 2'), +('391646','Microcephaly-digital anomalies-normal intelligence syndrome type 2'), +('391646','Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2'), +('391641','Brunner-Winter syndrome type 1'), +('391641','Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1'), +('391641','FGLDS1'), +('391641','FS1'), +('391641','MMT type 1'), +('391641','MODED syndrome type 1'), +('391641','Microcephaly-digital anomalies-normal intelligence syndrome type 1'), +('391641','Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1'), +('391641','Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1'), +('391641','ODED syndrome type 1'), +('391641','Oculo-digito-esophageal-duodenal syndrome type 1'), +('391665','HoFH'), +('391351','CMT4K'), +('391351','Charcot-Marie-Tooth disease type 4K'), +('391351','SURF1-related CMT4'), +('391351','SURF1-related severe demyelinating Charcot-Marie-Tooth disease'), +('391372','FOXP1 syndrome'), +('391376','Asparagine synthetase deficiency'), +('391384','FEPS'), +('391397','CIP with hyperhidrosis and gastrointestinal dysfunction'), +('391397','Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction'), +('391397','HSAN with hyperhidrosis and gastrointestinal dysfunction'), +('391397','HSAN7'), +('391397','Hereditary sensory and autonomic neuropathy type VII'), +('391397','Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction'), +('391417','2-methyl-3-hydroxybutyric aciduria'), +('391417','2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency'), +('391417','HSD10 deficiency'), +('391417','MHBD deficiency'), +('391428','2-methyl-3-hydroxybutyric aciduria, classic type'), +('391428','2-methyl-3-hydroxybutyric aciduria, infantile type'), +('391428','2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type'), +('391428','2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type'), +('391428','HSD10 deficiency, classic type'), +('391428','HSD10 deficiency, infantile type'), +('391428','HSD10 disease, classic type'), +('391428','MHBD deficiency, classic type'), +('391428','MHBD deficiency, infantile type'), +('391457','2-methyl-3-hydroxybutyric aciduria, neonatal type'), +('391457','2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type'), +('391457','HSD10 deficiency, neonatal type'), +('391457','MHBD deficiency, neonatal type'), +('391311','Predisposition to severe viral infection due to STAT1 deficiency'), +('391311','STAT1 deficiency'), +('398063','Refractory CD'), +('398063','Refractory sprue'), +('398058','Penile squamous cell carcinoma'), +('398053','Penile adenocarcinoma'), +('398043','Cancer of penis'), +('398043','Malignant penile tumor'), +('398043','Penile cancer'), +('397973','MOMES syndrome'), +('397968','CMT2R'), +('397959','TCR-alpha-beta+ T-cell deficiency'), +('397946','Autosomal spastic ataxia type 2'), +('397946','SPAX2'), +('397946','SPG58'), +('397941','Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency'), +('397941','Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency'), +('397941','Congenital disorder of glycosylation type II due to MAN1B1 deficiency'), +('397941','Intellectual disability-truncal obesity syndrome'), +('397937','PGBM1'), +('397933','IQSEC2-related syndromic intellectual disability'), +('397922','Cerebro-cutaneous syndrome with iron overload'), +('397787','SCID due to IKK2 deficiency'), +('397758','Retinal dystrophy with inner nuclear layer and ganglion cell anomalies'), +('397744','Peripheral neuropathy-myopathy-hoarseness-deafness syndrome'), +('397725','CoPAN'), +('397725','NBIA6'), +('397725','Neurodegeneration with brain iron accumulation due to COASY mutation'), +('397735','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation'), +('397735','CMT2U'), +('397709','Autosomal recessive spinocerebellar ataxia type 20'), +('397709','Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome'), +('397709','SCAR20'), +('397715','JBTS with JATD'), +('397715','Joubert syndrome with JATD'), +('397695','Del(3)(q27.3)'), +('397623','SAMS syndrome'), +('397685','Familial isolated prolactin receptor deficiency'), +('397618','FHONDA syndrome'), +('397596','APDS'), +('397596','Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation'), +('397606','Chronic diarrhea with HSAN'), +('397606','Chronic diarrhea with hereditary sensory and autonomic neuropathy'), +('397606','Prion protein systemic amyloidosis'), +('397587','Disseminated granulomatous dermatophytosis'), +('394532','Glutaric aciduria type 2, mild type'), +('394532','MAD deficiency, mild type'), +('394532','MADD, mild type'), +('394529','Glutaric aciduria type 2, severe neonatal type'), +('394529','MAD deficiency, severe neonatal type'), +('394529','MADD, severe neonatal type'), +('399831','Rare female infertility due to gonadotropic axis disorder'), +('399831','Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder'), +('399824','Rare disorder due to impaired sperm transport'), +('399813','Male infertility due to asthenozoospermia'), +('399764','Male infertility due to testicular dysgenesis or sperm disorder'), +('399329','Epiphysiolysis of the upper femur'), +('399329','Femoral head epiphysiolysis'), +('399329','SCFE'), +('399329','SUFE'), +('399329','Slipped capital femoral epiphysis'), +('399329','Slipped upper femoral epiphysis'), +('399572','Rare male infertility due to gonadotropic axis disorder'), +('399572','Rare male infertility due to hypothalamic-pituitary-testicular axis disorder'), +('399380','Bone necrosis of genetic origin'), +('399180','Secondary non-traumatic AVN'), +('399180','Secondary non-traumatic osteonecrosis'), +('399169','Secondary AVN'), +('399175','Traumatic AVN'), +('399307','Idiopathic AVN'), +('399302','Primary AVN'), +('399058','Alpha-B crystallin-related late-onset distal myopathy'), +('399058','Late-onset distal crystallinopathy'), +('398987','Immature teratoma of ovary'), +('398987','Ovarian immature teratoma'), +('398987','Ovarian malignant teratoma'), +('399086','Distal myopathy type 3'), +('399086','MPD3'), +('399103','Nebulin-related early-onset distal myopathy'), +('399096','MMD3'), +('399096','Miyoshi muscular dystrophy type 3'), +('399164','AVN'), +('399158','Bone necrosis'), +('398934','Epithelial cancer of ovary'), +('398934','Ovarian epithelial cancer'), +('398934','Ovarian malignant epithelial tumor'), +('398961','Ovarian mucinous adenocarcinoma'), +('398940','Non-epithelial cancer of ovary'), +('398940','Ovarian malignant non-epithelial tumor'), +('398940','Ovarian non-epithelial cancer'), +('398980','PPSPC'), +('398971','Ovarian clear cell adenocarcinoma'), +('398147','AFP'), +('398147','Atypical facial pain'), +('398147','PIFP'), +('398156','OAFNS'), +('398166','FFDD'), +('398173','FFDD type II'), +('398173','FFDD2'), +('398173','Focal facial dermal dysplasia 2, Brauer-Setleis type'), +('398189','FFDD type IV'), +('398189','FFDD4'), +('398189','Focal facial dermal dysplasia 4'), +('398189','Focal facial preauricular dysplasia'), +('398069','MAGEL2-related PWLS'), +('398069','Schaaf-Yang syndrome'), +('398073','PWS-like'), +('398079','SIM1-related PWLS'), +('398091','Transplacentally acquired neonatal autoimmune disease'), +('398097','Neonatal Hughes syndrome'), +('398097','Neonatal antiphospholipid antibody syndrome'), +('398109','Neonatal AHA'), +('398109','Neonatal AIHA'), +('398117','Neonatal DM'), +('435628','Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome'), +('435623','Congenital absence of toes'), +('435660','FPLD6'), +('435660','LIPE-related FPLD'), +('435651','CIDEC-related FPLD'), +('435651','FPLD5'), +('435638','Del(3)p(25.3)'), +('435638','Intellectual disability-epilepsy-stereotypic hand movement syndrome'), +('435638','Monosomy 3p25.3'), +('435845','Lethal neonatal rigidity-multifocal seizure syndrome'), +('435819','CMT2 due to TFG mutation'), +('435953','Ruijs-Aalfs syndrome'), +('435988','CAID syndrome'), +('435988','Chronic atrial dysrhythmia-intestinal motility disorder'), +('435934','COG2-related congenital disorder of glycosylation'), +('435998','RI-CMT type D'), +('436003','5q23 microdeletion syndrome'), +('436159','ALPS due to CTLA4 haploinsuffiency'), +('436159','CHAI'), +('436159','CTLA-4 haploinsufficiency with autoimmune infiltration disease'), +('436151','Intellectual disability-loss of expressive language-facial dysmorphism syndrome'), +('436169','THBD-related bleeding disorder'), +('436169','THBD-related coagulopathy'), +('436169','Thrombomodulin-related coagulopathy'), +('436166','NLRC4-related MAS'), +('436166','NLRC4-related autoinflammatory syndrome with MAS'), +('436166','NLRC4-related autoinflammatory syndrome with macrophage activation syndrome'), +('436166','NLRC4-related infantile enterocolitis-autoinflammatory syndrome'), +('436166','NLRC4-related macrophage activation syndrome'), +('436174','CAGSSS'), +('436245','Retinal dystrophy-juvenile cataract-short stature syndrome'), +('436252','CID-MIA/early-onset IBD'), +('436274','PXE-like syndrome with retinitis pigmentosa'), +('437552','Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity'), +('437552','CD16 deficiency'), +('437572','MYH7-related late-onset SPMD'), +('437572','MYH7-related late-onset scapuloperoneal syndrome'), +('438178','FAR1 deficiency'), +('438117','Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome'), +('438274','Mahvash disease'), +('438266','PERM'), +('439224','Leukocyte chemotactic factor-2 amyloidosis'), +('439232','Apolipoprotein A-IV amyloidosis'), +('439212','EMARDD'), +('439218','KCNQ2-NEE'), +('439218','KCNQ2-related neonatal epileptic encephalopathy'), +('439196','NAE'), +('439196','Necrolytic acral erythema'), +('439202','Chronic obstetric brachial plexus injury'), +('439202','Chronic obstetric brachial plexus palsy'), +('439202','Non-recovering OBPI'), +('439202','Non-recovering OBPL'), +('439167','Uteroplacental vascular insufficiency'), +('439175','Childhood AIS'), +('439175','Childhood arterial ischemic stroke'), +('439175','Pediatric AIS'), +('439762','Systemic PAN'), +('439762','Systemic periarteritis nodosa'), +('439746','Secondary PAN'), +('439746','Secondary periarteritis nodosa'), +('439755','Single-organ PAN'), +('439755','Single-organ periarteritis nodosa'), +('439729','Cutaneous PAN'), +('439729','Cutaneous periarteritis nodosa'), +('439737','Primary PAN'), +('439737','Primary periarteritis nodosa'), +('439246','Beta2-microglobulinic amyloidosis'), +('439254','Familial cerebral amyloid angiopathy'), +('439254','ITM2B-related amyloidosis'), +('439254','ITM2B-related cerebral amyloid angiopathy'), +('440221','Congenital CNIII lesion'), +('440221','Congenital third cranial nerve palsy'), +('440233','Benign congenital sixth cranial nerve palsy'), +('440233','Congenital CNVI palsy'), +('439854','Fatal congenital hypertrophic cardiomyopathy due to GSD'), +('439854','Fatal congenital hypertrophic cardiomyopathy due to glycogenosis'), +('439881','Croupous bronchitis'), +('439881','Fibrinous bronchitis'), +('439881','Pseudo-membranous bronchitis'), +('440402','Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency'), +('440354','Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome'), +('440392','Interstitial lung disease due to surfactant protein C deficiency'), +('440368','NSTI'), +('440713','Isolated SHPK deficiency'), +('440727','CHR-RPE'), +('440727','Combined hamartoma of the retina and RPE'), +('440427','Hereditary pulmonary alveolar proteinosis with hepatic involvement'), +('440427','Interstitial lung and liver disease'), +('440427','PAP, Reunion island type'), +('440427','Pulmonary alveolar proteinosis, Reunion island type'), +('440437','FCCTX'), +('443057','Porphyria cutanea tarda type I'), +('443062','Porphyria cutanea tarda type II'), +('443079','CSCR'), +('443073','CMT2S'), +('442835','Undetermined EOEE'), +('442582','Heavy chain amyloidosis'), +('443197','X-linked dominant erythropoietic protoporphyria'), +('443197','X-linked dominant protoporphyria'), +('443197','XLDPP'), +('443197','XLP'), +('443197','XLPP'), +('3008','Ataxia with lactic acidosis type 2'), +('3008','Ataxia with lactic acidosis type II'), +('3008','Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency'), +('3008','Leigh syndrome due to PC deficiency'), +('3008','Leigh syndrome due to pyruvate carboxylase deficiency'), +('443192','Classic SPS'), +('595','CNM'), +('443180','Spontaneous cerebrospinal fluid leak'), +('413','Familial hypertriglyceridemia'), +('413','HLP type 4'), +('443173','Puerperal psychosis'), +('443291','HIV-related cancer'), +('298','MNGIE'), +('443236','Familial orthostatic tachycardia due to norepinephrine transporter deficiency'), +('443236','Orthostatic intolerance due to NET deficiency'), +('443236','POTS due to NET deficiency'), +('552','Maturity-onset diabetes of the young'), +('854','Non-cirrhotic portal vein thrombosis'), +('443167','NMC'), +('130','Bangungut'), +('130','Dream disease'), +('130','Idiopathic ventricular fibrillation, Brugada type'), +('130','Pokkuri death syndrome'), +('130','SUNDS'), +('130','Sudden unexplained nocturnal death syndrome'), +('277','ADA deficiency'), +('277','SCID due to adenosine deaminase deficiency'), +('443162','MHAC'), +('443159','Lymphoplasmacytic lymphoma without Immunoglobulin M production'), +('443804','Focal stiff-person syndrome'), +('443804','Stiff leg syndrome'), +('443811','CID due to PGM3 deficiency'), +('443811','Combined immunodeficiency due to PGM3 deficiency'), +('443811','PGM3-related congenital disorder of glycosylation'), +('443909','Familial nonpolyposis colon cancer'), +('443909','Familial nonpolyposis colorectal cancer'), +('443909','HNPCC'), +('443909','Hereditary nonpolyposis colorectal cancer'), +('443950','DNAJB2-related CMT2'), +('443988','Congenital nephrosis-cerebral ventriculomegaly syndrome'), +('443988','VMCKD'), +('444092','COPA syndrome'), +('444099','SPG73'), +('444138','PLACK syndrome'), +('444002','Del(11)(q22.2q22.3)'), +('444002','Monosomy 11q22.2q22.3'), +('443995','MFDA'), +('444013','COXPD23'), +('444051','Del(20)(q11.2)'), +('444051','Monosomy 20q11'), +('444077','CHOPS syndrome'), +('444072','Cerebellofaciodental syndrome'), +('444463','Evans syndrome associated with primary immunodeficiency'), +('444463','TPPII deficiency'), +('444463','TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease'), +('444463','TRIANGLE disease'), +('444463','Tripeptidyl-peptidase II deficiency'), +('444316','Idiopathic phalangeal acroosteolysis'), +('444458','COXPD24'), +('445110','LGMD due to POMK deficiency'), +('445062','Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome'), +('445062','Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome'), +('445038','3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome'), +('445038','MGA7'), +('445018','CID due to LRBA deficiency'), +('447731','Primary immunodeficiency with multifaceted aberrant lymphoid immunity'), +('447881','Isolated neck extensor myopathy'), +('447877','PPAP'), +('447896','TACH syndrome'), +('447788','Cortical visual impairment'), +('447777','KTOC'), +('447777','Odontogenic keratocystoma'), +('447757','AD-SPG9B'), +('447753','AD-SPG9A'), +('447753','Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome'), +('447753','Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome'), +('447760','AR-SPG9B'), +('412057','SCAR16'), +('412057','Spinocerebellar ataxia autosomal recessive type 16'), +('412181','DST-related epidermolysis bullosa simplex'), +('412181','EBS-AR BP230'), +('412069','Xia-Gibbs syndrome'), +('412189','EBS-AR exophilin 5'), +('412206','PFE'), +('412206','Primary retention of teeth'), +('418959','Gastric squamous cell carcinoma'), +('418945','Esophageal carcinoma, salivary gland type'), +('418951','Undifferentiated esophageal carcinoma'), +('420259','Secondary PAP'), +('420179','Sotos syndrome 2'), +('414726','Genetic craniofacial cleft'), +('415675','Variola'), +('415300','NAION'), +('415286','Kernicterus'), +('415687','SIDS'), +('420789','Anti-IgLON5 disease'), +('420789','Anti-IgLON5 syndrome'), +('420794','Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome'), +('420728','COXPD20'), +('420733','COXPD21'), +('420741','RNF168 deficiency'), +('420741','Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome'), +('420492','DYT23'), +('420492','Dystonia 23'), +('420485','DYT24'), +('420485','Dystonia 24'), +('420402','SCD syndrome'), +('420429','Alpha-1,4-glucosidase acid deficiency, late-onset'), +('420429','GSD due to acid maltase deficiency, late-onset'), +('420429','GSD type 2, late-onset'), +('420429','GSD type II, late-onset'), +('420429','Glycogen storage disease type 2, late-onset'), +('420429','Glycogen storage disease type II, late-onset'), +('420429','Glycogenosis type 2, late-onset'), +('420429','Glycogenosis type II, late-onset'), +('420429','Pompe disease, late-onset'), +('420611','TMD'), +('420611','Transient abnormal myelopoiesis'), +('420611','Transient myeloproliferative disease'), +('420584','Culler-Jones syndrome'), +('420686','KWWH type IV'), +('420686','Keratoderma with woolly hair type IV'), +('420686','Woolly hair-palmoplantar hyperkeratosis syndrome'), +('420561','Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome'), +('420561','TMBTS'), +('420573','SCID due to CTPS1 deficiency'), +('420566','Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency'), +('423461','ML 3 alpha/beta'), +('423461','ML III alpha/beta'), +('423461','Mucolipidosis type 3 alpha/beta'), +('423470','ML 3 gamma'), +('423470','ML III gamma'), +('423470','Mucolipidosis type 3 gamma'), +('423454','Ectodermal dysplasia-short stature syndrome'), +('423454','Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome'), +('423296','SCA38'), +('423771','Rare gastric carcinoma'), +('423693','DORV with subaortic or doubly committed VSD'), +('423712','DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy'), +('422526','Hereditary clear cell renal cell adenocarcinoma'), +('422519','PHGDH deficiency'), +('423275','SCA40'), +('424065','Pancreatic solid pseudopapillary carcinoma'), +('424065','Solid pseudopapillary neoplasm of the pancreas'), +('424058','IPMN'), +('424058','Pancreatic intraductal papillary mucinous carcinoma'), +('424080','OGCT of pancreas'), +('424080','Pancreatic osteoclastic giant cell tumor'), +('424080','Pancreatic undifferentiated carcinoma with osteoclast-like giant cells'), +('424080','Undifferentiated carcinoma of pancreas with osteoclast-like giant cells'), +('424073','Pancreatic serous cystadenocarcinoma'), +('424099','Microphthalmia-coloboma-rhizomelic skeletal dysplasia'), +('424261','Autosomal recessive limb-girdle muscular dystrophy type 2Y'), +('424261','Autosomal recessive muscular dystrophy due to LAP1B deficiency'), +('424261','Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency'), +('424261','LGMD type 2Y'), +('424261','LGMD2Y'), +('424261','Muscular dystrophy with progressive weakness, distal contractures and rigid spine'), +('424261','TOR1AIP1-related LGMD'), +('424027','EPM8'), +('424027','PME type 8'), +('424027','Progressive myoclonic epilepsy due to CERS1 deficiency'), +('424027','Progressive myoclonus epilepsy type 8'), +('424039','Pancreatic squamous cell carcinoma'), +('424033','Rare pancreatic epithelial tumor'), +('424053','Pancreatic mucinous cystadenocarcinoma'), +('424046','Pancreatic acinar cell carcinoma'), +('423968','Squamous cell carcinoma of the small bowel'), +('423975','NET of the small intestine'), +('423975','Neuroendocrine neoplasm of the small intestine'), +('423975','Neuroendocrine tumor of small bowel'), +('423982','Appendiceal epithelial tumor'), +('423998','Rare rectal epithelial tumor'), +('424002','Rectal squamous cell carcinoma'), +('423776','Hereditary cancer of stomach'), +('423781','Gastric carcinoma, salivary gland type'), +('423786','Undifferentiated gastric carcinoma'), +('423793','Rare tumor of small bowel'), +('423798','Mesenchymal tumor of small bowel'), +('423957','Rare carcinoma of small bowel'), +('431140','X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome'), +('425368','Rare epithelial tumor of small bowel'), +('425120','SAVI'), +('424943','Adenocarcinoma of the liver and IBT'), +('424970','Undifferentiated carcinoma of liver and IBT'), +('424933','Rare malignant epithelial tumor of liver and IBT'), +('424936','Carcinoma of liver and IBT'), +('424991','Adenocarcinoma of the gallbladder and EBT'), +('424996','Squamous cell carcinoma of gallblader and EBT'), +('424975','Squamous cell carcinoma of liver and IBT'), +('424982','Intrahepatic bile duct cystadenocarcinoma'), +('431361','2,4-dienoyl-CoA reductase deficiency'), +('431361','DECR deficiency with hyperlysinemia'), +('431347','Vesicourachal diverticulum'), +('431272','X-linked SPMD'), +('431272','X-linked scapuloperoneal syndrome'), +('431320','SPOAN and SPOAN-related disorder'), +('431329','SPG57'), +('431329','Spastic paraplegia due to partial TFG deficiency'), +('431255','Neurogenic scapuloperoneal amyotrophy, New England type'), +('431255','SPSMA'), +('431255','Scapuloperoneal neuronopathy'), +('431263','Late-onset SPMD with hyaline bodies'), +('431263','Late-onset scapuloperoneal syndrome, myopathic type'), +('431149','Combined immunodeficiency with childhood-onset Kaposi sarcoma'), +('431149','Combined immunodeficiency with impaired immunity to HHV-8'), +('431149','Combined immunodeficiency with impaired immunity to human herpes virus 8'), +('431166','Primary immunodeficiency with post-MMR vaccine viral infection'), +('435438','EPM7'), +('435438','MEAK'), +('435438','Myoclonus epilepsy and ataxia due to potassium channel mutation'), +('435438','PME type 7'), +('435438','Progressive myoclonic epilepsy due to KV3.1 deficiency'), +('435438','Progressive myoclonus epilepsy type 7'), +('435387','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation'), +('435387','CMT2 due to VCP mutation'), +('435387','CMT2Y'), +('435365','LUTO'), +('435329','Multiple ossifying fibroma'), +('434179','Microcephaly-cerebral malformation-orofaciodigital syndrome'), +('434179','OFD14'), +('434179','Oral-facial-digital syndrome type 14'), +('504476','CABV syndrome'), +('504476','CANVAS'), +('504476','Cerebellar ataxia with bilateral vestibulopathy syndrome'), +('504523','SCID due to LAT deficiency'), +('504530','CID due to Moesin deficiency'), +('504530','MSN-related combined immunodeficiency'), +('504530','X-linked Moesin-associated immunodeficiency'), +('26793','VLCAD deficiency'), +('26793','VLCADD'), +('29072','Familial pheochromocytoma-paraganglioma'), +('28378','Keratosis palmoplantaris-corneal dystrophy syndrome'), +('28378','Oculocutaneous tyrosinemia'), +('28378','Richner-Hanhart syndrome'), +('28378','Tyrosinemia due to TAT deficiency'), +('28378','Tyrosinemia due to tyrosine aminotransferase deficiency'), +('28378','Tyrosinemia type II'), +('29207','Arthritis urethritica'), +('29207','Fiessinger-Leroy disease'), +('29207','Fiessinger-Leroy-Reiter syndrome'), +('29207','Polyarthritis enterica'), +('29207','Reiter disease'), +('29207','Reiter syndrome'), +('29207','Venereal arthritis'), +('29073','Kahler disease'), +('29073','Medullary plasmacytoma'), +('29073','Myelomatosis'), +('29073','Plasma cell myeloma'), +('29822','Episodic spontaneous hypothermia'), +('29822','Shapiro syndrome'), +('30391','Isolated atresia of bile ducts'), +('30391','Non-syndromic biliary atresia'), +('320','11-beta-hydroxysteroid dehydrogenase deficiency type 2'), +('320','Ulick syndrome'), +('724','IAEP'), +('230','Noradrenaline deficiency'), +('230','Norepinephrine deficiency'), +('725','CSWS'), +('725','CSWSS syndrome'), +('725','Continuous spikes and waves during slow-wave sleep'), +('725','Epileptic encephalopathy with continuous spike-and-wave during slow sleep'), +('590','CMS'), +('404','FH-II'), +('404','FH2'), +('404','Familial adrenal adenoma'), +('404','Familial hyperaldosteronism type 2'), +('756','PHA type 1'), +('544','DLBCL'), +('88','Idiopathic bone marrow failure'), +('102','MSA'), +('102','Multisystem atrophy'), +('824','Agnogenic myeloid metaplasia'), +('824','Idiopathic myelofibrosis'), +('824','Myelofibrosis with myeloid metaplasia'), +('824','Osteomyelofibrosis'), +('748','Idiopathic infection caused by BCG or atypical mycobacteria'), +('748','MSMD'), +('748','Mendelian susceptibility to atypical mycobacteria'), +('748','Mendelian susceptibility to mycobacterial infections'), +('729','Acquired primary erythrocytosis'), +('729','Osler-Vaquez disease'), +('729','PV'), +('729','Polycythemia rubra vera'), +('729','Vaquez disease'), +('25980','XMEA'), +('26137','JTA'), +('26137','Non-giant cell granulomatous temporal arteritis with eosinophilia'), +('26106','FDGC'), +('26106','Familial diffuse cancer of stomach'), +('26106','Familial diffuse gastric cancer'), +('26106','HDGC'), +('26106','Hereditary diffuse cancer of stomach'), +('26106','Hereditary diffuse gastric adenocarcinoma'), +('505395','VIDD'), +('807','Macrothrombocytopenia with leukocyte inclusions'), +('26790','Adenomucinosis'), +('26790','Gelatinous ascites'), +('26790','PMP'), +('26792','ACADS deficiency'), +('26792','SCAD deficiency'), +('26792','SCADD'), +('26791','Glutaric acidemia type 2'), +('26791','Glutaric aciduria type 2'), +('26791','MAD deficiency'), +('26791','MADD'), +('26348','Acquired hypoprothrombinemia'), +('620','Universal mesentery'), +('831','Congenital narrowing of cervical spinal canal'), +('831','Congenital stenosis of the cervical spine'), +('49','Aphallia'), +('49','Penis agenesis'), +('386','Biliary hamartoma'), +('386','MHL'), +('386','Mesenchymal hamartoma of liver'), +('386','VMC'), +('386','Von Meyenburg complexes disease'), +('266','LGMD1A'), +('266','Limb-girdle muscular dystrophy due to myotilin deficiency'), +('264','LGMD1B'), +('264','Limb-girdle muscular dystrophy due to lamin A/C deficiency'), +('353','Autosomal recessive limb-girdle muscular dystrophy type 2C'), +('353','Gamma-sarcoglycan-related LGMD R5'), +('353','Gamma-sarcoglycanopathy'), +('353','LGMD due to gamma-sarcoglycan deficiency'), +('353','LGMD type 2C'), +('353','LGMD2C'), +('353','Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency'), +('353','Limb-girdle muscular dystrophy type 2C'), +('219','Autosomal recessive limb-girdle muscular dystrophy type 2F'), +('219','Delta-sarcoglycan-related LGMD R6'), +('219','Delta-sarcoglycanopathy'), +('219','LGMD due to delta-sarcoglycan deficiency'), +('219','LGMD type 2F'), +('219','LGMD2F'), +('219','Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency'), +('219','Limb-girdle muscular dystrophy type 2F'), +('641','MMN'), +('641','MMNCB'), +('641','Multifocal motor neuropathy with conduction block'), +('119','Autosomal recessive limb-girdle muscular dystrophy type 2E'), +('119','Beta-sarcoglycan-related LGMD R4'), +('119','Beta-sarcoglycanopathy'), +('119','LGMD due to beta-sarcoglycan deficiency'), +('119','LGMD type 2E'), +('119','LGMD2E'), +('119','Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency'), +('119','Limb-girdle muscular dystrophy type 2E'), +('603','WDM'), +('505227','CID due to GINS1 deficiency'), +('505227','Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia'), +('505227','Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia'), +('588','MEB syndrome'), +('588','Muscle-eye-brain syndrome'), +('588','Santavuori congenital muscular dystrophy'), +('899','HARD syndrome'), +('899','Hydrocephalus-agyria-retinal dysplasia syndrome'), +('899','WWS'), +('505216','3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome'), +('505216','MGA9'), +('272','FCMD'), +('272','Fukuyama congenital muscular dystrophy'), +('505208','MGA8'), +('265','LGMD1C'), +('265','Limb-girdle muscular dystrophy due to caveolin-3 deficiency'), +('268','Autosomal recessive limb-girdle muscular dystrophy type 2B'), +('268','Dysferlin-related LGMD R2'), +('268','LGMD due to dysferlin deficiency'), +('268','LGMD type 2B'), +('268','LGMD2B'), +('268','Limb-girdle muscular dystrophy due to dysferlin deficiency'), +('268','Limb-girdle muscular dystrophy type 2B'), +('263','LGMD'), +('600','Distal myopathy with vocal cord weakness'), +('600','MATR3-related distal myopathy'), +('600','VCPDM'), +('505248','Mucopolysaccharidosis-like plus disease'), +('609','Distal myopathy, Udd type'), +('609','Distal titinopathy'), +('609','Finnish tibial muscular dystrophy'), +('609','TMD'), +('609','Udd myopathy'), +('602','DMRV'), +('602','Distal myopathy with rimmed vacuoles'), +('602','Distal myopathy, Nonaka type'), +('602','HIBM2'), +('602','Hereditary inclusion body myopathy type 2'), +('602','IBM2'), +('602','Inclusion body myopathy type 2'), +('602','Nonaka myopathy'), +('602','Quadriceps-sparing myopathy'), +('505242','Cerebrorenal syndrome, Perez type'), +('508093','Autosomal recessive childhood-onset dystonia, DYT29 type'), +('508093','Childhood-onset generalized dystonia-optic atrophy syndrome'), +('508093','DYT29'), +('508093','Dystonia 29'), +('508093','Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome'), +('508533','EXTL3-related neuro-immuno-skeletal dysplasia syndrome'), +('508533','Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency'), +('508542','MYSM1 deficiency'), +('508523','Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia'), +('508488','Del(8)(q24.3)'), +('508488','Deletion 8q24.3'), +('508488','Monosomy 8q24.3'), +('508488','Verheij syndrome'), +('508476','Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome'), +('508476','Hyaluronidase 2 deficiency'), +('508501','OFD18'), +('508501','Oral-facial-digital syndrome type 18'), +('508501','Orofaciodigital syndrome type 18'), +('505652','CDKL5 deficiency disorder'), +('506784','SJS/TEN overlap syndrome'), +('506784','Stevens-Johnson/TEN overlap syndrome'), +('506784','Stevens-Johnson/toxic epidermal necrolysis overlap syndrome'), +('506334','Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency'), +('506307','Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome'), +('506307','Jejunal atresia-microcephaly-ocular anomalies syndrome'), +('506358','YY1 haploinsufficiency syndrome'), +('506353','Autosomal recessive complex SPG due to Kennedy pathway dysfunction'), +('506136','Esophageal NEN'), +('506136','Esophageal neuroendocrine neoplasm'), +('506136','NEN of esophagus'), +('506090','Serotonin-producing PNET'), +('506090','Serotonin-producing pancreatic NET'), +('506090','Serotonin-producing pancreatic neuroendocrine tumor'), +('506098','Pancreatic NEC'), +('506098','Pancreatic neuroendocrine carcinoma'), +('506098','Poorly-differentiated NEN of pancreas'), +('506098','Poorly-differentiated neuroendocrine neoplasm of pancreas'), +('506098','Poorly-differentiated pancreatic NEN'), +('506098','Poorly-differentiated pancreatic neuroendocrine neoplasm'), +('506112','MiNEN of pancreas'), +('506112','Pancreatic MiNEN'), +('506112','Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm'), +('506124','NET of small intestine'), +('506052','PNEN'), +('506052','Pancreatic NEN'), +('506052','Pancreatic neuroendocrine neoplasm'), +('506060','Functioning PNET'), +('506060','Functioning pancreatic NET'), +('506060','Functioning pancreatic neuroendocrine tumor'), +('506060','Functioning well-differentiated NEN of pancreas'), +('506060','Functioning well-differentiated neuroendocrine neoplasm of pancreas'), +('506060','Functioning well-differentiated pancreatic NEN'), +('506060','Functioning well-differentiated pancreatic neuroendocrine neoplasm'), +('506075','Non-functioning PNET'), +('506075','Non-functioning pancreatic NET'), +('506075','Non-functioning pancreatic neuroendocrine tumor'), +('506075','Non-functioning well-differentiated NEN of pancreas'), +('506075','Non-functioning well-differentiated neuroendocrine neoplasm of pancreas'), +('506075','Non-functioning well-differentiated pancreatic NEN'), +('506075','Non-functioning well-differentiated pancreatic neuroendocrine neoplasm'), +('495274','AR-CMT2T'), +('495274','Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T'), +('495274','CMT2T'), +('495844','C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy'), +('495844','Hypomyelinating leukodystrophy due to hikeshi deficiency'), +('495818','Del(9)(q33.3q34.11)'), +('495818','Deletion 9q33.3q34.11'), +('495818','Monosomy 9q33.3q34.11'), +('495879','Congenital absence of the scrotum'), +('495879','Congenital scrotal absence'), +('495879','Congenital scrotal agenesis'), +('495875','Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome'), +('496689','Kyphoscoliosis-lateral tongue atrophy-HSP syndrome'), +('496693','Gershoni-Baruch syndrome'), +('496751','Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome'), +('496790','Harel-Yoon syndrome'), +('494433','Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome'), +('494433','Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome'), +('494439','Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome'), +('494424','ECAA'), +('494424','ECCA'), +('494428','IPPFE'), +('494428','Idiopathic pleuropulmonary fibroelastosis'), +('494451','Basal cell carcinoma of vulva'), +('494454','Adenocarcinoma of the vulva'), +('494444','DIAPH1-related sensorineural deafness-thrombocytopenia syndrome'), +('494448','Squamous cell carcinoma of the vulva'), +('494418','Carcinoma of vulva'), +('494526','Infantile-onset orofacial-trunk-limbs dyskinesia'), +('781','Coxiellosis'), +('781','Infection due to Coxiella burnetii'), +('781','Nine Mile fever'), +('781','Quadrilateral fever'), +('781','Query fever'), +('500150','ZTTK syndrome'), +('500150','Zhu-Tokita-Takenouchi-Kim syndrome'), +('302','Lewandowsky-Lutz syndrome'), +('302','Lutz-Lewandowsky epidermodysplasia verruciformis'), +('297','TBE'), +('182','Chromoblastomycosis'), +('128','Bothriocephalosis'), +('283','Demodicosis'), +('76','Anguilluliasis'), +('76','Anguillulosis'), +('78','Ancylostomiasis'), +('78','Hookworm infection'), +('500135','MARCH syndrome'), +('500055','Del(16)(p13.2)'), +('500055','Monosomy 16p13.2'), +('500095','Thauvin-Robinet-Faivre syndrome'), +('500062','ORAS'), +('500062','OTULIN deficiency'), +('500062','OTULIN-related autoinflammatory syndrome'), +('500062','Otulipenia'), +('123','Deafness-pili torti-hypogonadism syndrome'), +('123','Hearing loss-pili torti-hypogonadism syndrome'), +('898','Dominant hyaloideoretinal dystrophy of Wagner'), +('898','VCAN-related vitreoretinopathy'), +('898','Vitreoretinal degeneration, Wagner type'), +('898','Wagner syndrome'), +('518','AMKL'), +('518','AML M7'), +('518','Acute megakaryocytic leukemia'), +('518','Acute myeloid leukemia M7'), +('318','AML M6'), +('318','Acute myeloid leukemia M6'), +('318','Erythroleukemia'), +('514','AML M5'), +('514','Acute monoblastic or monocytic leukemia'), +('517','AML M4'), +('517','AMMoL'), +('505','Graham Little syndrome'), +('505','Piccardi-Lassueur-Little syndrome'), +('202','Alopecia-deafness-hypogonadism syndrome'), +('202','Alopecia-hearing loss-hypogonadism syndrome'), +('202','Alopecia-sensorineural deafness-hypogonadism syndrome'), +('202','Alopecia-sensorineural hearing loss-hypogonadism syndrome'), +('170','Familial woolly hair syndrome'), +('170','Familial wooly hair syndrome'), +('170','Hereditary woolly hair syndrome'), +('170','Hereditary wooly hair syndrome'), +('170','Wooly hair'), +('169','Pili annulati'), +('500533','PMSE syndrome'), +('591','Furunculoid myiasis'), +('591','Furunculous myiasis'), +('472','Cystoisosporiasis'), +('504','Migratory myiasis'), +('390','Darling disease'), +('400','Hydatid disease'), +('400','Hydatidosis'), +('500464','Squamous cell carcinoma of the nasal cavity and sinuses'), +('520','AML M3'), +('520','AML with t(15;17)(q22;q12);(PML/RARalpha) and variants'), +('520','APML'), +('520','Acute myeloblastic leukemia 3'), +('520','Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants'), +('450','Heterotaxy syndrome'), +('450','Lateralization defect'), +('450','Visceral heterotaxy'), +('224','NDM'), +('502423','Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome'), +('502437','Proximal del(4)(q25)'), +('502437','Proximal monosomy 4q25'), +('502499','Erythema exsudativum multiforme majus'), +('502499','Erythema multiforme majus'), +('502444','ACER3-related early childhood-onset progressive leukodystrophy'), +('502444','Leukodystrophy due to alkaline ceramidase 3 deficiency'), +('432','Gonadotropic deficiency'), +('432','Isolated congenital gonadotropin deficiency'), +('432','Normosmic idiopathic hypogonadotropic hypogonadism'), +('432','nIHH'), +('91','Congenital estrogen deficiency'), +('625','Clark nevus'), +('625','Dysplastic nevus'), +('873','Aggressive fibromatosis'), +('873','Desmoid type fibromatosis'), +('553','Hyperadrenocorticism'), +('553','Hypercortisolism'), +('679','Degos disease'), +('679','Köhlmeier-Degos disease'), +('679','Köhlmeier-Degos-Delort-Tricort syndrome'), +('679','Papulosis atrophican maligna'), +('901','Eosinophilic cellulitis'), +('841','Steatocystoma multiplex'), +('817','Deciduous skin'), +('817','Familial continuous skin peeling syndrome'), +('817','Idiopathic deciduous skin'), +('817','Keratosis exfoliativa congenita'), +('817','PSS'), +('817','Peeling skin disease'), +('497906','Lenk-Ploski syndrome'), +('659','Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques'), +('659','Olmsted syndrome'), +('659','Palmoplantar and periorificial keratoderma'), +('737','Palmar, plantar and disseminated porokeratosis'), +('497623','C12ORF65-related COXPD'), +('523','Familial leiomyomatosis and renal cell cancer'), +('523','Familial leiomyomatosis cutis et uteri'), +('523','Familial leiomyomatosis with renal carcinoma'), +('523','Familial multiple cutaneous leiomyomas'), +('523','HLRCC'), +('523','Hereditary leiomyomatosis'), +('523','Hereditary leiomyomatosis with renal carcinoma'), +('523','Hereditary multiple cutaneous leiomyomas'), +('523','MCUL'), +('523','Multiple cutaneous and uterine leiomyomas'), +('523','Reed syndrome'), +('497737','Epidermal nevus with epidermolytic hyperkeratosis'), +('497737','Epidermolytic epidermal nevus'), +('497737','Epidermolytic verrucous epidermal nevus'), +('314','Leiner disease'), +('497757','MME-related autosomal dominant CMT2'), +('497757','MME-related autosomal dominant hereditary motor and sensory neuropathy type 2'), +('623','Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome'), +('497764','SCA43'), +('530','Hyalinosis cutis et mucosae'), +('530','Urbach-Wiethe disease'), +('493','Hereditary keratoacanthoma'), +('493','Multiple keratoacanthoma'), +('497188','DIPG'), +('617','Congenital primary megalo-ureter'), +('105','Urethral atresia'), +('734','Alpha dense granule deficiency'), +('734','Combined alpha-delta platelet storage pool deficiency'), +('721','Alpha storage pool deficiency'), +('721','GPS'), +('721','Platelet alpha-granule deficiency'), +('722','Plasminogen deficiency type 1'), +('853','FNAIT'), +('853','NAIT'), +('498359','Aquagenic keratoderma'), +('498359','Aquagenic syringeal acrokeratoderma'), +('498359','Aquagenic wrinkling of the palms'), +('498359','Transient reactive papulotranslucent acrokeratoderma'), +('465','Congenital PAI-1 deficiency'), +('498251','Luteal-phase-dependent febrile episode'), +('498251','Luteal-phase-dependent periodic fever'), +('498251','Menstrual cycle-dependent febrile episode'), +('1332','MTC'), +('73','Gorham disease'), +('73','Gorham syndrome'), +('73','Idiopathic massive osteolysis'), +('73','Progressive massive osteolysis'), +('73','Vanishing bone disease'), +('498228','Cystic epithelial-stromal tumors of the prostate'), +('498228','Cystosarcoma phyllodes of the prostate'), +('498228','Phyllodes type of atypical prostatic hyperplasia'), +('728','Polychondropathia'), +('467','Congenital combined pituitary hormone deficiency'), +('467','Congenital hypopituitarism'), +('759','CPP'), +('759','Gonadotropin-dependant precocious puberty'), +('1461','Criss-cross atrioventricular relationships'), +('1461','Superoinferior ventricles'), +('1461','Twisted atrioventricular connections'), +('875','Cardiac tumor of child'), +('875','Heart tumor of child'), +('499085','CRION'), +('499085','Chronic recurrent isolated optic neuritis'), +('874','Adult cardiac tumor'), +('874','Adult heart tumor'), +('499009','MTCT of syphilis'), +('499009','Mother-to-child transmission of syphilis'), +('499004','TBM'), +('499004','Tubercular meningitis'), +('1330','PAVC'), +('1330','Partial AVSD'), +('1330','Partial atrioventricular canal defect'), +('498602','Sugarman-Hager-Kulik syndrome'), +('247','ARVC'), +('247','ARVD'), +('247','Arrhythmogenic right ventricular dysplasia'), +('498693','MYBPC1-related autosomal recessive non-lethal AMC syndrome'), +('444','Hypotrichosis, Marie Unna type'), +('444','MUHH'), +('444','Marie Unna congenital hypotrichosis'), +('573','Moniliform hair syndrome'), +('525','Follicular lichen planus'), +('525','LPP'), +('525','Lichen follicularis'), +('525','Lichen planus follicularis'), +('840','Fistulous vegetative verrucous hydradenoma'), +('840','Naevus syringocystadenomatosus papilliferus'), +('840','SCAP'), +('840','Syringadenoma papilliferum'), +('384','Palmoplantar hyperkeratosis-sclerodactyly syndrome'), +('384','Palmoplantar keratoderma-sclerodactyly syndrome'), +('384','Scleroatrophic syndrome'), +('384','Sclerotylosis'), +('315','Degos genodermatosis "en cocardes"'), +('409','Flegel disease'), +('41','Acropigmentation of Dohi'), +('122','Fibrofolliculomas with trichodiscomas and acrochordons'), +('38','AKE'), +('38','PPKP3'), +('38','Punctate palmoplantar hyperkeratosis type 3'), +('38','Punctate palmoplantar keratoderma type 3'), +('316','Darier-Gottron disease'), +('316','Erythrokeratodermia progressiva symmetrica'), +('316','Progressive symmetric erythrokeratodermia, Gottron type'), +('211','Turban tumor syndrome'), +('435','HI syndrome'), +('435','Hypomelanosis of Ito'), +('435','Pigmentary mosaicism, Ito type'), +('658','Angioneurotic edema'), +('658','Bradykinine-induced angioedema'), +('658','Non histamine-induced angioedema'), +('3282','Chaotic atrial tachycardia'), +('3282','MAT'), +('188','Capillary hyperpermeability syndrome'), +('188','Capillary leak syndrome'), +('188','Clarkson disease'), +('188','Idiopathic capillary leak syndrome'), +('188','SCLS'), +('303','DEB'), +('303','Dermolytic epidermolysis bullosa'), +('303','Epidermolysis bullosa dystrophica'), +('305','EBJ'), +('305','Epidermolysis bullosa atrophicans'), +('305','JEB'), +('499182','Calcified epithelial carcinoma of Malherbe'), +('499182','Calcifying epitheliocarcinoma'), +('499182','Malignant pilomatricoma'), +('499182','Trichomatrical carcinoma'), +('2908','Congenital bullous poikiloderma'), +('2908','Poikiloderma of Kindler'), +('81','AS syndrome'), +('81','Anti-Jo1 syndrome'), +('499107','Idiopathic OPN'), +('563','Postpartum cardiomyopathy'), +('764','Myositis purulenta tropica'), +('764','Myositis tropicans'), +('764','PM'), +('764','Suppurative myositis'), +('764','Tropical pyomyositis'), +('499096','ION'), +('779','Primary biliary cirrhosis and systemic scleroderma'), +('499103','RINR'), +('838','RED-M'), +('838','Retinocochleocerebral vasculopathy'), +('838','Retinopathy-encephalopathy-deafness associated with microangiopathy'), +('838','Retinopathy-encephalopathy-hearing loss associated with microangiopathy'), +('838','SICRET syndrome'), +('838','Small infarctions of cochlear, retinal and encephalic tissue'), +('889','Cutaneous hypersensitivity vasculitis'), +('482','Eosinophilic lymphogranuloma'), +('485631','BASD'), +('485426','Isolated CHF'), +('486811','SMABF'), +('486815','Congenital muscular dystrophy, Davignon-Chauveau type'), +('485421','Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome'), +('485421','Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome'), +('485405','Tetrasomy 16p12.1p12.3'), +('485405','Trip(16)(p12.1p12.3)'), +('485358','PTU embryofetopathy'), +('485358','PTU embryopathy'), +('485358','Propylthiouracil embryopathy'), +('482601','ADSSL1-related distal myopathy'), +('480880','X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females'), +('31740','Extrinsic allergic alveolitis'), +('480549','Non-SCID'), +('31709','ICCA syndrome'), +('31709','Paroxysmal kinesigenic dyskinesia and infantile convulsions'), +('480701','Facial diplegia with paresthesias variant of GBS'), +('480701','Facial diplegia with paresthesias variant of Guillain-Barré syndrome'), +('480682','Autosomal recessive limb-girdle muscular dystrophy type 2Z'), +('480682','LGMD type 2Z'), +('480682','LGMD2Z'), +('480682','Limb-girdle muscular dystrophy type 2Z'), +('480682','POGLUT1-related LGMD R21'), +('482072','HTRA1-related cerebral angiopathy'), +('482077','HTRA1-related autosomal dominant cerebral angiopathy'), +('481475','GNET type 2'), +('481478','GNET type 3'), +('481469','GNET type 1'), +('481481','GNET type 4'), +('480476','NR1H4 deficiency'), +('480476','PFIC5'), +('480491','MYO5B deficiency'), +('480483','PFIC4'), +('480483','TJP2 deficit'), +('480524','Idiopathic peliosis hepatitis'), +('480536','MSH3-related AFAP'), +('480536','MSH3-related attenuated FAP'), +('480536','MSH3-related attenuated familial polyposis coli'), +('480531','Congenital portosystemic venous fistula'), +('480506','PIHL'), +('480506','Primary hepatolithiasis'), +('480501','Congenital cystic dilatation of the biliary tract'), +('480512','IAD'), +('480512','Idiopathic adult ductopenia'), +('477797','Constitutional thrombocytopenia without extra-hematopoietic manifestations'), +('477797','Non-syndromic constitutional thrombocytopenia'), +('477781','Type 1 condylar hyperplasia'), +('477787','PLA2G4A-related platelet dysfunction'), +('477787','Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency'), +('478029','COXPD29'), +('478042','COXPD30'), +('477993','Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome'), +('477857','Autosomal recessive MSMD due to complete RORgamma receptor defiency'), +('477857','Autosomal recessive primary immunodeficiency due to RORC mutation'), +('477817','17p11.2p12 microduplication syndrome'), +('477817','Dup(17)(p11.2p12)'), +('477817','Trisomy 17p11.2-p12'), +('477817','Trisomy 17p11.2p12'), +('477817','Yuan-Harel-Lupski syndrome'), +('477831','Kosaki overgrowth syndrome'), +('478664','HSAN8'), +('478664','Hereditary sensory and autonomic neuropathy type VIII'), +('477661','IL21-related infantile IBD'), +('477684','COXPD26'), +('477697','Familial platelet disorder with predisposition to hematological cancer'), +('477749','PADMAL'), +('477742','Pseudosarcomatous fasciitis'), +('477742','Pseudosarcomatous fibromatosis'), +('477759','COL4A1 or COL4A2-related cerebral angiopathy'), +('477765','COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy'), +('477762','COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy'), +('477774','COXPD27'), +('476116','Demyelinating HMSN'), +('476109','Axonal HMSN'), +('476113','CID due to TFRC deficiency'), +('476113','TFRC-related combined immunodeficiency'), +('476123','Intermediate hereditary motor and sensory neuropathy'), +('476394','PMP2-related CMT1'), +('476394','PMP2-related Charcot-Marie-Tooth neuropathy type 1'), +('476394','PMP2-related hereditary motor and sensory neuropathy type 1'), +('488642','You-Hoover-Fong syndrome'), +('488618','Short stature-developmental delay-congenital heart defect syndrome'), +('488618','TKT deficiency'), +('488635','Congenital disorder of glycosylation due to PIGG deficiency'), +('488635','PIGG-CDG'), +('488265','OFD'), +('488239','AMNR'), +('488232','SFMMP'), +('488232','Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome'), +('488333','Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation'), +('488333','CMT2W'), +('488280','Dup(14)q(32)'), +('488280','Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication'), +('488280','Trisomy 14q32'), +('488586','Amyoplasia congenita'), +('488437','SIX2-related FND'), +('488594','SPG76'), +('488201','NSCLC'), +('488168','SMO deficiency'), +('488168','Sterol-C4-methyl oxidase deficiency'), +('487796','Takenouchi-Kosaki syndrome'), +('487814','CMT2 due to DGAT2 mutation'), +('487809','Childhood-onset collagenous gastritis'), +('487825','Plantar lipomatosis-facial dysmorphism-developmental delay syndrome'), +('487825','Plantar lipomatosis-unusual facies-developmental delay syndrome'), +('31150','ATP-binding cassette transporter A1 deficiency'), +('31150','Analphalipoproteinemia'), +('31150','Defective adenosine triphosphate-binding cassette transporter A1'), +('31043','FHHNC without severe ocular involvement'), +('31043','HOMG3'), +('31043','Renal hypomagnesemia type 3'), +('31112','DFSP'), +('30924','HOMG1'), +('30924','HSH'), +('30924','Hypomagnesemia caused by selective magnesium malabsorption'), +('30924','Hypomagnesemia intestinal type 1'), +('30924','Intestinal hypomagnesemia with secondary hypocalcemia'), +('30924','PHSH'), +('30925','Hereditary CDI'), +('30925','Hereditary neurogenic diabetes insipidus'), +('476084','Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome'), +('476084','BVES-related LGMD'), +('476084','LGMD type 2X'), +('476084','LGMD2X'), +('476084','Limb-girdle muscular dystrophy 2X'), +('476096','EKC syndrome'), +('476102','Behçet-like disease due to HA20'), +('476102','Behçet-like disease due to haploinsufficiency of A20'), +('474347','Congenital anomaly of interventricular communication'), +('474347','Congenital ventricular septal anomaly'), +('71278','Inherited GS deficiency'), +('71278','Inherited glutamine synthetase deficiency'), +('71279','CANDA syndrome'), +('71279','Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome'), +('71279','Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies'), +('71271','Split hand-split foot-hearing loss syndrome'), +('71273','Left renal vein entrapment syndrome'), +('71273','RNS'), +('71274','DPL'), +('71274','Diffuse peritoneal leiomyomatosis'), +('71274','LPD'), +('71274','Leiomyomatosis peritonealis disseminate'), +('71275','Rh-null syndrome'), +('71276','Imploding antrum syndrome'), +('71277','Classic GLUT1 deficiency syndrome'), +('71277','Classic GLUT1-DS'), +('71277','De Vivo disease'), +('71277','Encephalopathy due to GLUT1 deficiency'), +('71209','Rare mesenchymal tumor'), +('71212','Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency'), +('71212','Hyperinsulinism due to SCHAD deficiency'), +('71212','Hyperinsulinism due to glutamodehydrogenase deficiency'), +('71212','SCHAD deficiency'), +('71211','Devic disease'), +('71267','Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome'), +('71269','BES'), +('71202','Rare bleeding disorder due to a constitutional platelet anomaly'), +('71202','Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia'), +('71202','Rare coagulopathy due to a constitutional platelet anomaly'), +('71202','Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia'), +('71202','Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia'), +('70591','CTEPH'), +('70592','IRAK4 deficiency'), +('70589','BPD'), +('70590','Apnea of infancy'), +('70595','SANDO'), +('70596','Antenatal EBV infection'), +('70596','Antenatal Epstein-Barr virus infection'), +('70596','Congenital EBV infection'), +('70596','Mother-to-child transmission of Epstein-Barr virus infection'), +('70593','Specific anti-polysaccharide antibody deficiency'), +('70594','Autosomal recessive sepiapterin reductase-deficient DRD'), +('70594','DRD due to SRD'), +('70594','SPR deficiency'), +('70594','Sepiapterin reductase deficiency'), +('70578','Adult ARDS'), +('70573','SCLC'), +('70568','PTLD'), +('70587','Hyaline membrane disease'), +('70587','Infant ARDS'), +('70587','Infant respiratory distress syndrome'), +('70587','Neonatal respiratory distress syndrome'), +('70474','Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency'), +('70474','Cardiomyopathy with myopathy due to COX deficiency'), +('70474','Leigh disease with myopathy'), +('70472','COX deficiency, French-Canadian type'), +('70472','Cytochrome C oxidase deficiency, French-Canadian type'), +('70472','Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type'), +('70472','Leigh syndrome, French-Canadian type'), +('70472','Leigh syndrome, Saguenay-Lac-Saint-Jean type'), +('70472','SLSJ-COX deficiency'), +('70470','HLP type 5'), +('70470','Major hyperlipidemia'), +('70567','Bile duct cancer'), +('70567','CCA'), +('70482','Esophageal carcinoma'), +('70476','Spring catarrh'), +('69745','Follicular dyskeratoma'), +('69735','Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome'), +('69736','BADI'), +('69739','ABSD'), +('69739','Athabascan brainstem dysgenesis syndrome'), +('69739','Navajo brainstem syndrome'), +('69663','ABCB4-related cholelithiasis'), +('69663','LPAC'), +('69665','Gravidic intrahepatic cholestasis'), +('69665','Pregnancy-related cholestasis'), +('69665','Recurrent intrahepatic cholestasis of pregnancy'), +('69723','Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency'), +('69723','Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency'), +('69723','Tyrosinemia due to HPD deficiency'), +('69723','Tyrosinemia type III'), +('69127','IgA deficiency'), +('69127','IgAD'), +('69127','SIgAD'), +('69127','Selective immunoglobulin A deficiency'), +('69126','FRA'), +('69126','Familial recurrent arthritis'), +('69126','PAPA syndrome'), +('69087','NFJ syndrome'), +('69087','Naegeli syndrome'), +('69088','OL-EDA-ID'), +('69082','OTUDP syndrome'), +('69082','Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type'), +('69085','LMS'), +('69084','HNED'), +('69084','Hair-nail ectodermal dysplasia'), +('69084','PHNED'), +('69077','Malignant rhabdoid tumor'), +('69076','Familial renal glycosuria'), +('69076','SGLT2 deficiency'), +('69063','Alloimmune neonatal renal disease'), +('69063','FMAIG'), +('69063','Fetomaternal alloimmunization with antenatal glomerulopathies'), +('69063','Neonatal glomerulopathy due to neprilysin alloimmunization'), +('69063','Neonatal membranous glomerulopathy with maternal NEP deficiency'), +('69063','Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency'), +('67048','MGA4'), +('67046','3-methylglutaconyl-CoA hydratase deficiency'), +('67046','3MG-CoA hydratase deficiency'), +('67046','MGA1'), +('67047','Autosomal recessive optic atrophy plus syndrome'), +('67047','Autosomal recessive optic atrophy type 3'), +('67047','Costeff optic atrophy syndrome'), +('67047','Costeff syndrome'), +('67047','Infantile optic atrophy with chorea and spastic paraplegia'), +('67047','MGA3'), +('67044','Congenital dyserythropoietic anemia with thombocytopenia'), +('67044','X-linked congenital dyserythropoietic anemia with thrombocytopenia'), +('67044','XDAT'), +('67045','MRGH'), +('67042','Autosomal dominant late-onset retinal degeneration'), +('67042','LORD'), +('67041','MPS9'), +('67041','MPSIX'), +('67041','Mucopolysaccharidosis type 9'), +('67041','Mucopolysaccharidosis type IX'), +('67037','HNSCC'), +('67037','Head and neck squamous cell carcinoma'), +('67038','B-CLL'), +('67038','B-cell chronic lymphoid leukemia'), +('67038','Small lymphocytic lymphoma'), +('67036','Autosomal dominant optic atrophy type 3'), +('67036','OPA3, autosomal dominant'), +('66634','3-methylglutaconic aciduria type 5'), +('66634','DCMA syndrome'), +('66634','MGA5'), +('66633','Sensorineural deafness-early graying-essential tremor syndrome'), +('66631','Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome'), +('66630','Congenital pseudarthrosis of the clavicle'), +('66629','GOSHS'), +('66629','Megacolon-microcephaly syndrome'), +('66627','Diffuse-type GCT'), +('66627','Diffuse-type giant cell tumor'), +('66627','TGCT'), +('66627','TSGCT'), +('66627','Tenosynovial giant cell tumor'), +('66624','Pediatric autoimmune disorders associated with Streptococcus infections'), +('66624','Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections'), +('66529','Ampulla cardiomyopathy'), +('66529','Apical ballooning syndrome'), +('66529','Ballooning cardiomyopathy'), +('66529','Broken heart syndrome'), +('66529','Stress cardiomyopathy'), +('66529','Tako-Tsubo syndrome'), +('66529','Takotsubo cardiomyopathy'), +('66529','Takotsubo syndrome'), +('66529','Transient left ventricular apical ballooning syndrome'), +('65798','ACPS4'), +('65798','Acrocephalopolysyndactyly type 4'), +('65283','LQT8'), +('65283','Long QT syndrome type 8'), +('65283','Long QT syndrome-syndactyly syndrome'), +('65282','KWWH type II'), +('65282','Keratoderma with woolly hair type II'), +('65282','Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome'), +('65282','Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome'), +('65282','Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome'), +('65282','Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome'), +('562639','Overlap syndromes of autoimmune liver diseases'), +('562639','PBC/PSC and AIH overlap syndrome'), +('65285','Dysplastic gangliocytoma of the cerebellum'), +('65285','LDD'), +('65284','BBGD'), +('65284','BTBGD'), +('65284','Biotin-responsive basal ganglia disease'), +('65287','Beta-alanine synthase deficiency'), +('65286','3q subtelomere deletion syndrome'), +('65286','3qter deletion'), +('65286','Del(3)(q29)'), +('65286','Monosomy 3q29'), +('65286','Monosomy 3qter'), +('65288','Pancreatic and cerebellar agenesis'), +('65683','Epilepsy due to FCD'), +('65682','BRIC'), +('65682','Summerskill-Walshe-Tygstrup syndrome'), +('65720','Distal arthrogryposis type 4'), +('65720','Distal arthrogryposis type IID'), +('65684','Benign focal amyotrophy'), +('65684','Hirayama disease'), +('65684','JMADUE'), +('65684','Juvenile muscular atrophy of distal upper extremity'), +('65684','Juvenile muscular atrophy of the distal upper limb'), +('65748','Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type'), +('65748','Ferguson-Smith disease'), +('65748','MSSE'), +('65748','Multiple keratoacanthoma, Ferguson-Smith type'), +('65748','Self-healing squamous epithelioma type 1'), +('65743','Distal arthrogryposis type 8'), +('65759','ACPS2'), +('65759','Acrocephalopolysyndactyly type 2'), +('65753','Autosomal dominant demyelinating Charcot-Marie-Tooth disease'), +('65753','CMT1'), +('65753','Charcot-Marie-Tooth neuropathy type 1'), +('65753','Hereditary motor and sensory neuropathy type 1'), +('64744','Riedel disease'), +('64744','Riedel thyroiditis'), +('64745','PUPPP'), +('64745','Polymorphic eruption of pregnancy'), +('64746','Autosomal dominant axonal Charcot-Marie-Tooth disease'), +('64746','CMT2'), +('64746','Hereditary motor and sensory neuropathy type 2'), +('64747','CMTX'), +('64747','X-linked hereditary motor and sensory neuropathy'), +('64748','Charcot-Marie-Tooth disease type 3'), +('64748','HMSN 3'), +('64748','HMSN III'), +('64748','Hereditary motor and sensory neuropathy type 3'), +('64748','Hereditary motor and sensory neuropathy type III'), +('64749','AR-CMT1'), +('64749','Autosomal recessive demyelinating Charcot-Marie-Tooth'), +('64749','CMT4'), +('64751','Charcot-Marie-Tooth disease-pyramidal features syndrome'), +('64751','HMSN 5'), +('64751','HMSN V'), +('64751','Hereditary motor and sensory neuropathy type V'), +('562509','HO-1 deficiency'), +('64752','Congenital insensitivity to pain and thermal analgesia'), +('64752','HSAN5'), +('64752','Hereditary sensory and autonomic neuropathy type V'), +('64753','AOA2'), +('64753','Ataxia-oculomotor apraxia type 2'), +('64753','SCAN 2'), +('64753','SCAR1'), +('562528','CLIFAHDD syndrome'), +('64755','Pigmentary hairy epidermal nevus'), +('562559','MRAMS syndrome'), +('562538','MTO-deficiency'), +('562538','Methanethiol oxidase deficiency'), +('65250','Tarlov cyst'), +('64686','Painful ophthalmoplegia'), +('64545','BINS'), +('64545','Benign nonfamilial neonatal seizures'), +('64542','Kennedy-Teebi syndrome'), +('64280','Pyknolepsy'), +('64722','Idiopathic granulomatous mastitis'), +('64694','Bartonellosis due to Bartonella quintana infection'), +('64692','Bartonellosis due to Bartonella bacilliformis infection'), +('64692','Carrion disease'), +('64739','OHSS'), +('64734','ICE syndrome'), +('64743','Obliterative portal venopathy'), +('64741','Pneumoblastoma'), +('561854','FOXG1-related epileptic encephalopathy'), +('63261','Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome'), +('63269','Ambiguous genitalia-disordered steroidogenesis Antley-Bixler-like syndrome'), +('63269','Antley-Bixler syndrome type 2'), +('63269','Antley-Bixler syndrome, POR-related'), +('63440','Acrocephaly'), +('63440','Hypsicephaly'), +('63440','Hypsocephaly'), +('63440','Pyrgocephaly'), +('63440','Turricephaly'), +('63442','ASPED'), +('63273','Distal ABD-filaminopathy'), +('63275','Gestational pemphigoid'), +('63454','Patterned dystrophy of the retinal pigment epithelium'), +('63443','Rare gastric epithelial tumor'), +('63999','Fibrosing mediastinitis'), +('63999','Mediastinal fibrosis'), +('63999','Sclerosing mediastinitis'), +('60040','MCAP'), +('60040','MCM'), +('60040','MCMTC'), +('60040','Macrocephaly-capillary malformation syndrome'), +('60040','Macrocephaly-cutis marmorata telangiectatica congenita syndrome'), +('60040','Megalencephaly-capillary malformation syndrome'), +('60040','Megalencephaly-cutis marmorata telangiectatica congenita syndrome'), +('60039','Alcock syndrome'), +('60039','Pudendal algia'), +('60039','Pudendal nerve entrapment syndrome'), +('60039','Pudendal neuralgia by pudendal nerve entrapment'), +('60039','Pudendalgia'), +('60041','Congenital atrioventricular block'), +('59303','IHSC'), +('59303','Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome'), +('59303','NISCH syndrome'), +('59305','GTN'), +('59306','MLS'), +('59306','X-linked McLeod syndrome'), +('59298','Myelinoclastic diffuse sclerosis'), +('60015','Catlin marks'), +('60015','Fenestrae parietales symmetricae'), +('60015','Foramina parietalia permagna'), +('60015','Hereditary cranium bifidum'), +('60015','Symmetric parietal foramina'), +('564003','Avascular necrosis of the metatarsal bone'), +('564003','Freiberg disease'), +('564003','Freiberg infraction'), +('563991','Aseptic necrosis of the tarsal bone'), +('563991','Avascular necrosis of the tarsal bone'), +('563991','Kohler disease'), +('60026','Pulmonary pseudolymphoma'), +('564127','Hereditary nephrotic syndrome'), +('60030','Aortic aneurysm syndrome due to TGF-beta receptors anomalies'), +('60014','Silver staining'), +('57196','Osteitis condensans of the clavicle'), +('563690','Furunculoid myiasis due to Cordylobia rodhaini'), +('563690','Furunculous myiasis due to Cordylobia rodhaini'), +('563708','Syndromic congenital tufting enteropathy'), +('57145','Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing'), +('563684','Furunculoid myiasis due to Dermatobia hominis'), +('563684','Furunculous myiasis due to Dermatobia hominis'), +('563687','Furunculoid myiasis due to Cordylobia anthropophaga'), +('563687','Furunculous myiasis due to Cordylobia anthropophaga'), +('56970','TSE'), +('56970','Transmissible spongiform encephalopathy'), +('56965','Fazio-Londe disease'), +('56965','Progressive bulbar palsy of childhood'), +('563671','Mucinous cystadenoma of ovary in childhood'), +('56425','CAD'), +('56425','CAS'), +('56425','Chronic cold agglutinin disease'), +('56425','Cold agglutinin syndrome'), +('563676','Seromucinous cystadenoma of ovary in childhood'), +('59135','Distal myopathy type 1'), +('59135','Gowers disease'), +('59135','MPD1'), +('58017','HCL-C'), +('58017','Leukemic reticuloendotheliosis'), +('57782','Myxoma with fibrous dysplasia'), +('55595','Autosomal dominant limb-girdle muscular dystrophy type 1F'), +('55595','LGMD type 1F'), +('55595','LGMD1F'), +('55595','Limb-girdle muscular dystrophy type 1F'), +('55595','TNP03-related LGMD D2'), +('55596','Autosomal dominant limb-girdle muscular dystrophy type 1G'), +('55596','HNRNPDL-related LGMD D3'), +('55596','LGMD type 1G'), +('55596','LGMD1G'), +('55596','Limb-girdle muscular dystrophy type 1G'), +('54368','Sarcosporidiosis'), +('54370','Mesangiocapillary glomerulonephritis'), +('54370','Primary MPGN'), +('56304','AO2'), +('56304','AOII'), +('56304','Atelosteogenesis type 2'), +('56304','De la Chapelle dysplasia'), +('56304','Neonatal osseous dysplasia type 1'), +('563666','Serous cystadenoma of ovary in childhood'), +('56305','AO3'), +('56305','AOIII'), +('56305','Atelosteogenesis type 3'), +('56044','Carcinoma of gallbladder and EBT'), +('563589','Autoantibody-negative autoimmune hepatitis'), +('563589','Seronegative AIH'), +('563581','AIH type 2'), +('55881','Adamantinoma of long bones'), +('563576','AIH type 1'), +('55654','Hereditary hypotrichosis simplex'), +('565837','LGMD type R23'), +('565837','Laminin subunit alpha 2-related LGMD R23'), +('565837','Laminin subunit alpha 2-related late-onset muscular dystrophy'), +('565899','LGMD type R24'), +('565899','Limb-girdle muscular dystrophy type R24'), +('565899','POMGNT2-related LGMD R24'), +('565899','POMGNT2-related muscular dystrophy'), +('79211','Combined hyperlipoproteinemia'), +('79211','Mixed hyperlipidemia'), +('79211','Mixed hyperlipoproteinemia'), +('565909','Calpain-3-related LGMD D4'), +('565909','LGMD type D4'), +('565909','LGMD1I'), +('565909','Limb-girdle muscular dystrophy type D4'), +('79233','HPRT deficiency, grade I'), +('79233','HPRT partial deficiency'), +('79233','HPRT-related gout'), +('79233','HPRT-related hyperuricemia'), +('79233','HPRT1 partial deficiency'), +('79233','Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency'), +('79233','Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I'), +('79233','Kelley-Seegmiller syndrome'), +('79230','Juvenile hemochromatosis'), +('79237','GALK deficiency'), +('79237','GALK-D'), +('79237','Galactokinase deficiency galactosemia'), +('79237','Galactosemia type 2'), +('566067','CAIN'), +('79234','Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1'), +('79234','Bilirubin-UGT deficiency type 1'), +('79234','Hereditary unconjugated hyperbilirubinemia type 1'), +('79234','UGT deficiency type 1'), +('79235','Arias syndrome'), +('79235','Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2'), +('79235','Bilirubin-UGT deficiency type 2'), +('79235','Hereditary unconjugated hyperbilirubinemia type 2'), +('79235','UGT deficiency type 2'), +('79189','Peroxisome biogenesis disorder spectrum'), +('79175','Disorder of GABA metabolism'), +('565624','COXPD39'), +('565624','GFM2-related combined oxidative phosphorylation defect'), +('565612','Neutral lipid storage disease with severe cardiovascular involvement'), +('565612','TGCV'), +('79201','GSD'), +('79201','Glycogenosis'), +('565641','Aplastic desmosis coli'), +('79157','2-methylbutyric aciduria'), +('79157','Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency'), +('79157','SBCAD deficiency'), +('79157','Short/branched-chain acyl-coA dehydrogenase deficiency'), +('79155','Kynureninase deficiency'), +('79155','Xanthurenic aciduria'), +('79154','Alpha-aminoadipic aciduria'), +('79151','AKV of Hopf'), +('79150','LWNH'), +('79149','François syndrome'), +('79146','Melanosis diffusa congenita'), +('79146','Melanosis universalis hereditaria'), +('79146','Universal melanosis'), +('79145','Reticular pigment anomaly of flexures'), +('79144','COIF'), +('79144','COIF syndrome'), +('79144','Congenital onychodysplasia of the index fingers'), +('79144','Iso-Kikuchi syndrome'), +('79143','Isolated anonychia'), +('79172','CCDS'), +('79172','CDS'), +('79172','Cerebral creatine deficiency syndrome'), +('79173','Cytosolic methyl group transfer or sulfur amino acid metabolism disorder'), +('79159','Isobutyric aciduria'), +('79107','Developmental malformations-hearing loss-dystonia syndrome'), +('566231','RTHa'), +('566231','Resistance to thyroid hormone alpha'), +('566231','Resistance to thyroid hormone due to a mutation in TRa'), +('566243','RTHb'), +('566243','Resistance to thyroid hormone beta'), +('566243','Resistance to thyroid hormone due to a mutation in TRb'), +('566393','Acute MCL'), +('79113','MFDM syndrome'), +('79113','Mandibulofacial dysostosis, Guion-Almeida type'), +('79102','Thyrotoxic hypokalemic periodic paralysis'), +('79105','Fibromyxosarcoma'), +('79105','Myxoid malignant fibrous histiocytoma'), +('79099','Ackerman dermatitis syndrome'), +('79099','Ackerman syndrome'), +('79099','IGDA'), +('79098','Sympathetic uveitis'), +('79101','Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency'), +('566192','CARST'), +('79100','Folliculitis ulerythematosa reticulate'), +('79095','2-methylacyl-CoA racemase deficiency'), +('79095','AMACR deficiency'), +('79095','Alpha-methyl-acyl-CoA racemase deficiency'), +('79095','BASD4'), +('79095','Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome'), +('79094','Grange occlusive arterial syndrome'), +('79094','Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome'), +('566175','CD55 deficiency'), +('566175','CHAPLE syndrome'), +('79096','PNPO deficiency'), +('79096','PNPO-related neonatal epileptic encephalopathy'), +('79096','Pyridoxal phosphate-dependent seizures'), +('79096','Pyridoxamine 5`-oxidase deficiency'), +('79096','Pyridoxamine 5`-phosphate oxidase deficiency'), +('79140','MCC'), +('79140','Merkel cell carcinoma'), +('79141','Keratosis palmoplantaris nummularis'), +('79141','PPK nummularis'), +('79141','Plamoplantar hyperkeratosis nummularis'), +('79141','Plamoplantar keratoderma nummularis'), +('79134','Developmental delay-epilepsy-neonatal diabetes syndrome'), +('79135','Episodic ataxia-vertigo-tinnitus-myokymia syndrome'), +('79136','PATX'), +('79136','Periodic vestibulocerebellar ataxia'), +('79137','GEPD'), +('79133','Bitemporal aplasia cutis congenita'), +('79133','Brauer syndrome'), +('79133','FFDD type I'), +('79133','FFDD1'), +('79133','Focal facial dermal dysplasia 1, Brauer type'), +('79133','Focal facial dermal dysplasia type 1'), +('79124','VODI syndrome'), +('566396','Chronic MCL'), +('79126','Acute interstitial pneumonitis'), +('79126','Hamman-Rich syndrome'), +('79127','RB-ILD'), +('79128','Lymphocytic interstitial pneumonia'), +('77295','Dentoleukoencephalopathy'), +('77295','Leukodystrophy with oligodontia'), +('77261','Cerebral juvenile and adult form of Gaucher disease'), +('77261','Chronic neuronopathic Gaucher disease'), +('77261','Gaucher disease, subacute neuronopathic type'), +('77298','MCOPS3'), +('77298','Syndromic microphthalmia type 3'), +('77299','MCOPS10'), +('77299','MOBA syndrome'), +('77299','Syndromic microphthalmia type 10'), +('77296','Hyperostosis frontalis interna'), +('77297','Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome'), +('77303','CVID due to an intrinsic B cell defect'), +('567502','BILU syndrome'), +('567502','Hoffman syndrome'), +('77301','Microdeletion 9q22.3'), +('567548','Idiopathic SRNS'), +('567546','Idiopathic SSNS with secondary steroid resistance'), +('567546','Secondary SRNS'), +('567546','Secondary steroid-resistant nephrotic syndrome'), +('567544','Idiopathic non-lupus FHN'), +('79022','Lethal variant of Simpson-Golabi-Behmel syndrome'), +('79022','SGBS2'), +('567552','Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression'), +('79083','FPLD3'), +('79083','Familial partial lipodystrophy type 3'), +('79083','PPARG-related FPLD'), +('79078','Chronic dacryoadenitis and sialadenitis'), +('79078','Mikulicz disease'), +('79076','Infantile juvenile polyposis syndrome'), +('79087','Barraquer-Simons syndrome'), +('79087','Progressive cephalothoracic lipodystrophy'), +('79086','Acquired lipoatrophic diabetes'), +('79086','Lawrence syndrome'), +('79086','Lawrence-Seip syndrome'), +('79085','AKT2-related FPLD'), +('79084','FPLD1'), +('79084','Familial partial lipodystrophy type 1'), +('567983','PNAC'), +('79093','Angiodysgenetic necrotizing myelopathy'), +('79093','Familial osteosclerosis with abnormalities of the nervous system and meninges'), +('79093','Subacute angiohypertrophic myelomalacia'), +('79093','Subacute ascending necrotizing myelitis'), +('79093','Subacute necrotizing myelitis'), +('79091','HIBM3'), +('79091','Hereditary inclusion body myopathy type 3'), +('79091','IBM3'), +('79091','Inclusion body myopathy type 3'), +('75327','CAPE dystrophy'), +('75327','CAPED'), +('75327','Central areolar pigment epithelial dystrophy'), +('75327','Central retinal pigment epithelial dystrophy'), +('75327','MCDR1'), +('75327','NCMD'), +('75327','North Carolina macular dystrophy, retinal 1'), +('75327','Progressive foveal dystrophy'), +('75373','CRAPB'), +('75373','PBCRA'), +('75374','PERRS'), +('75374','Prolonged electroretinal response suppression'), +('75376','DHRD'), +('75376','Dominant drusen'), +('75376','Dominant radial drusen'), +('75376','Doyne honeycomb retinal dystrophy'), +('75376','Malattia leventinese'), +('75377','Areolar atrophy of the macula'), +('75377','CACD'), +('75377','Central areolar choroidal sclerosis'), +('75378','Oligocone syndrome'), +('75381','Autosomal dominant cystoid macular edema'), +('75381','DCMD'), +('75381','Familial macular edema'), +('75382','Congenital stationary night blindness, Oguchi type'), +('75382','Oguchi syndrome'), +('566847','AP/AT spectum'), +('75389','Goossens-Devriendt syndrome'), +('566841','Hepatic adenomatosis'), +('75391','Primary immunodeficiency due to MCM4 deficiency'), +('75392','EDS VIII'), +('75392','Ehlers-Danlos syndrome type 8'), +('75392','Ehlers-Danlos syndrome, periodontitis type'), +('75392','pEDS'), +('566852','Atelencephalic microcephaly'), +('75496','B4GALT7-related spondylodysplastic EDS'), +('75496','EDS progeroid type 1'), +('75496','EDS with short stature and limb anomalies'), +('75496','spEDS-B4GALT7'), +('75497','EDS V'), +('75497','Ehlers-Danlos syndrome type 5'), +('566862','Isomerism of left atrial appendage'), +('566862','LAI'), +('75501','EDS X'), +('75501','Ehlers-Danlos syndrome type 10'), +('75501','Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality'), +('75501','Ehlers-Danlos syndrome, fibronectin-deficient'), +('75508','Phlebectatic osteohypoplastic angiodysplasia'), +('75508','Servelle-Martorell syndrome'), +('75563','XLSA'), +('566943','Brailsford disease'), +('566943','Mueller-Weiss osteonecrosis of the tarsal bone'), +('75565','Davies disease'), +('75565','TEMF'), +('75564','AISA'), +('75564','Primary acquired sideroblastic anemia'), +('75564','RARS'), +('75564','Refractory anemia with ringed sideroblasts'), +('75567','PPFG'), +('75566','Eosinophilic endocarditis'), +('75790','Trichorrhexis nodosa syndrome'), +('75790','Trichothiodystrophy type C'), +('75790','Trichothiodystrophy-neurocutaneous syndrome syndrome'), +('75789','Trichothiodystrophy-osteosclerosis syndrome'), +('75840','Scleroatonic muscular dystrophy'), +('75840','UCMD'), +('75840','Ullrich disease'), +('75858','Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome'), +('77260','Acute neuronopathic Gaucher disease'), +('77260','Infantile cerebral Gaucher disease'), +('77259','Non-cerebral juvenile Gaucher disease'), +('73263','Mucormycosis'), +('73267','Hypernychthemeral syndrome'), +('73247','EoE'), +('569821','VEGFC-related congenital primary lymphedema'), +('73423','Acute intoxication by Blighia sapida'), +('73423','Jamaican vomiting sickness'), +('73423','Jamaican vomiting syndrome'), +('73272','Growth delay-deafness-intellectual disability syndrome'), +('73272','Growth delay-hearing loss-intellectual disability syndrome'), +('73272','IGF-1 deficiency'), +('73272','Primary insulin-like growth factor deficiency'), +('73273','Resistance to IGF-1'), +('75326','Retinal arteriolar tortuosity'), +('75326','Retinal hemorrhage with vascular tortuosity'), +('75326','Tortuosity of retinal arteries'), +('75325','Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome'), +('75249','Familial or idiopathic restrictive cardiomyopathy'), +('75234','Cholesterol ester storage disease'), +('568065','EPHB4-related LRHF/GLD'), +('568065','EPHB4-related generalized lymphatic dysplasia with atrial septal defect'), +('568065','EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis'), +('71290','FPD/AML'), +('71290','FPDMM'), +('71290','FPS/AML'), +('71290','Familial platelet disorder with predisposition to acute myelogenous leukemia'), +('71290','Familial platelet disorder with predisposition to myeloid malignancy'), +('71290','Familial platelet disorder with propensity to acute myeloid leukemia'), +('71290','Familial thrombocytopenia with propensity to acute myelogenous leukemia'), +('568062','Generalized lymphatic dysplasia of Fotiou'), +('568062','PIEZO1-related LRHF/GLD'), +('568062','PIEZO1-related generalized lymphatic dysplasia with systemic involvement'), +('568062','PIEZO1-related lymphatic-related hydrops fetalis'), +('71291','HVR'), +('71291','Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome'), +('71493','Familial thrombocythemia'), +('71493','Hereditary thrombocythemia'), +('71505','CAR syndrome'), +('71505','Paraneoplastic retinopathy'), +('568056','Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome'), +('568056','WILD syndrome'), +('71289','ATRUS syndrome'), +('71526','POMC deficiency'), +('71528','PCI deficiency'), +('71529','MC4R deficiency'), +('569164','AFH'), +('71517','DYT12'), +('71517','Dystonia 12'), +('71519','Psychogenic dystonia'), +('569274','ISCA1 deficiency'), +('569274','MMDS5'), +('71862','Retinal dystrophy'), +('569290','PMPCB deficiency'), +('569248','MCST'), +('73229','Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome'), +('73229','Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome'), +('73217','Aplasia of the Müllerian ducts'), +('73217','Müllerian duct failure'), +('73014','IDI'), +('40366','Fetal acitretin/etretinate syndrome'), +('40366','Retinoid embryopathy'), +('40923','Idiopathic retinal perivasculitis'), +('40923','Idiopathic retinal vasculitis'), +('39812','GVH'), +('530849','Familial APOA5 deficiency'), +('530849','Familial apolipoprotein A-V deficiency'), +('39041','Combined immunodeficiency with hypereosinophilia'), +('530838','KRT1-related diffuse NEPPK'), +('39044','Choroidal melanoma'), +('39044','Iris melanoma'), +('530792','Supratentorial C11ORF95-RELA fused ependymoma'), +('38874','Dihydropyrimidinase deficiency'), +('37748','Chronic urticaria with gammopathy'), +('37748','Chronic urticaria with macroglobulinemia'), +('530313','PROS'), +('530303','Late-onset familial encephalopathy with neuroserpin inclusion bodies'), +('37612','Episodic ataxia with myokymia'), +('530298','Early onset familial encephalopathy with neuroserpin inclusion bodies'), +('37553','Andersen syndrome'), +('37553','LQT7'), +('37553','Long QT syndrome type 7'), +('37202','Bladder pain syndrome'), +('37202','IC/BPS'), +('37202','IC/PBS'), +('37202','Interstitial cystitis/bladder pain syndrome'), +('37202','Interstitial cystitis/painful bladder syndrome'), +('37202','Painful bladder syndrome'), +('37042','Autoimmune enteropathy type 1'), +('37042','IPEX'), +('36899','Alcohol-responsive dystonia'), +('36899','Hereditary essential myoclonus'), +('36899','Myoclonic dystonia'), +('68346','Rare genodermatosis'), +('68334','Rare bleeding disorder due to a constitutional coagulation factors defect'), +('68334','Rare coagulopathy due to a constitutional coagulation factors defect'), +('68329','Rare maxillofacial anomaly'), +('530983','SOX5 haploinsufficiency syndrome'), +('530995','MPAL'), +('41751','BCD'), +('41751','Bietti crystalline corneoretinal dystrophy'), +('41751','Bietti crystalline retinopathy'), +('35705','Serine deficiency'), +('35706','Glutaric aciduria type 3'), +('35706','Glutaryl-CoA oxidase deficiency'), +('35704','AGAT deficiency'), +('35710','SGLT1 deficiency'), +('35737','Ectasic coloboma'), +('35737','Morning glory syndrome'), +('35708','AADC deficiency'), +('35696','COXPD'), +('35696','Combined OXPHOS defect'), +('35696','Combined OXPHOS deficiency'), +('35696','Combined oxidative phosphorylation defect'), +('35689','Adult-onset PLS'), +('35689','Adult-onset primary lateral sclerosis'), +('35689','PLS'), +('35701','HMG-CoA synthase deficiency'), +('35698','mtDNA depletion syndrome'), +('35612','Nanophthalmia'), +('35173','CDPX2'), +('35173','CDPXD'), +('35173','CPXD'), +('35173','Chondrodystrophia calcificans congenita'), +('35173','Conradi-Hünermann-Happle syndrome'), +('35173','X-linked chondrodysplasia punctata type 2'), +('35686','Geographic helicoid peripapillary choroidopathy'), +('35664','Delta-1-pyrroline 5-carboxylate synthetase deficiency'), +('35664','Neurocutaneous syndrome, Bicknell type'), +('35664','P5CS deficiency'), +('35656','CoQ10 deficiency'), +('35120','P5N deficiency'), +('35120','UMPH1 deficiency'), +('35120','Uridine 5`-monophosphate hydrolase deficiency'), +('35099','Non-syndromic bicoronal synostosis'), +('35098','Non-syndromic unicoronal synostosis'), +('35098','Synostotic plagiocephaly'), +('35125','Epidermal hamartoma syndrome'), +('35123','17b-hydroxysteroid dehydrogenase deficiency type 10'), +('35123','3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency'), +('35123','HSD deficiency'), +('35122','CSID'), +('35122','Congenital sucrase-isomaltose malabsorption'), +('35122','Congenital sucrose intolerance'), +('35122','Disaccharide intolerance'), +('36387','GEFS+'), +('36387','Genetic epilepsy with febrile seizures-plus'), +('36388','PCD'), +('36388','PNS'), +('36388','Paraneoplastic cerebellar degeneration'), +('36397','Adiposalgia'), +('36397','Adipose tissue rheumatism'), +('36397','Dercum disease'), +('36397','Lipomatosis dolorosa'), +('36412','Anti-C1q vasculitis'), +('36412','Mac Duffie hypocomplementemic urticarial vasculitis'), +('36412','Mac Duffie syndrome'), +('36412','McDuffie hypocomplementemic urticarial vasculitis'), +('36412','McDuffie syndrome'), +('36426','Dermatostomatitis, Stevens Johnson type'), +('36355','Bleeding disorder due to ADP platelet receptor P2Y12 defect'), +('36367','Distal deletion 1q'), +('36367','Monosomy 1qter'), +('36367','Telomeric deletion 1q'), +('36382','Familial CAD'), +('36382','Hereditary CAD'), +('36382','Hereditary cervical artery dissection'), +('36383','COL4A1-related brain small vessel disease with hemorrhage'), +('36383','COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome'), +('36386','HSAN1'), +('36386','Hereditary sensory and autonomic neuropathy type I'), +('36234','Bacterial TSS'), +('36236','Generalized exfoliative disease'), +('36236','SSSS'), +('36273','Borrmann gastric cancer type 4'), +('36273','Linitis plastica of the stomach'), +('36258','Thromboangiitis obliterans'), +('35808','Malignant ovarian SCST'), +('35808','Malignant ovarian sex cord-stromal tumor'), +('35807','MOGCT'), +('35807','Malignant ovarian germ cell tumor'), +('35807','Ovarian germ cell cancer'), +('35878','HI/HA syndrome'), +('35858','Familial megaloblastic anemia'), +('35858','Selective cobalamin malabsorption with proteinuria'), +('35909','F5F8D'), +('35909','FV and FVIII combined deficiency'), +('35909','Familial multiple coagulation factor deficiency'), +('33572','Oxoprolinuria due to oxoprolinase deficiency'), +('33445','Elejalde disease'), +('33409','Lichen sclerosus et atrophicus'), +('535458','Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency'), +('33402','Childhood-onset HCC'), +('33402','Childhood-onset hepatocellular carcinoma'), +('33402','Pediatric HCC'), +('34412','Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome'), +('34217','KWWH type I'), +('34217','Keratoderma with woolly hair type I'), +('34217','Keratosis palmoplantaris with arrythmogenic cardiomyopathy'), +('34217','Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy'), +('34217','Palmoplantar keratoderma with arrythmogenic cardiomyopathy'), +('34149','ADTKD'), +('34149','Autosomal dominant medullary cystic kidney disease'), +('34149','MCKD'), +('34145','IgA nephropathy'), +('33577','Idiopathic lobular panniculitis'), +('33577','Idiopathic nodular panniculitis'), +('33577','Pfeiffer-Weber-Christian syndrome'), +('33577','Relapsing febrile nodular nonsuppurative panniculitis'), +('33577','Relapsing febrile nodular panniculitis'), +('33577','WCD'), +('33577','Weber-Christian disease'), +('33577','Weber-Christian panniculitis'), +('33574','Gamma-glutamylcysteine synthetase deficiency'), +('33573','Gamma-glutamyl transferase deficiency'), +('33573','Glutathionuria'), +('33110','Agammaglobulinemia, non-Bruton type'), +('33108','Autosomal recessive lethal multiple pterygium syndrome'), +('33108','LMPS'), +('33069','DS'), +('33069','SMEI'), +('33069','Severe myoclonic epilepsy of infancy'), +('33069','Severe myoclonus epilepsy of infancy'), +('33355','AK2 deficiency'), +('33355','Congenital aleukocytosis'), +('33355','De Vaal disease'), +('33355','Generalized hematopoietic hypoplasia'), +('33355','SCID with leukopenia'), +('33355','Severe combined immunodeficiency with leukopenia'), +('535453','Familial LMF1 deficiency'), +('33314','Jessner-Kanof lymphocytic infiltration of the skin'), +('33271','NAFLD'), +('33208','Primary hypersomnia'), +('35056','Fish-odor syndrome'), +('35069','INAD'), +('35069','INAD1'), +('35069','PLAN'), +('35069','Phospholipase A2-associated neurodegeneration'), +('35069','Seitelberger disease'), +('35066','Idiopathic cutaneous and mucosal candidiasis'), +('35093','Isolated dolichocephaly'), +('35093','Non-syndromic sagittal synostosis'), +('35078','T-B+ SCID due to JAK3 deficiency'), +('35062','Idiopathic disseminated CMV infection'), +('34520','Congenital muscular dystrophy with ITGA7 deficiency'), +('34514','Autosomal recessive limb-girdle muscular dystrophy type 2G'), +('34514','LGMD due to telethonin deficiency'), +('34514','LGMD type 2G'), +('34514','LGMD2G'), +('34514','Limb-girdle muscular dystrophy due to telethonin deficiency'), +('34514','Limb-girdle muscular dystrophy type 2G'), +('34514','Telethonin-related LGMD R7'), +('34515','Autosomal recessive limb-girdle muscular dystrophy type 2I'), +('34515','FKRP-related LGMD R9'), +('34515','LGMD due to FKRP deficiency'), +('34515','LGMD type 2I'), +('34515','LGMD2I'), +('34515','Limb-girdle muscular dystrophy due to FKRP deficiency'), +('34515','Limb-girdle muscular dystrophy type 2I'), +('34516','Autosomal dominant limb-girdle muscular dystrophy type 1D'), +('34516','DNAJB6-related LGMD D1'), +('34516','LGMD type 1D'), +('34516','LGMD1D'), +('34516','Limb-girdle muscular dystrophy type 1D'), +('34517','LGMD1E'), +('34587','Danon disease'), +('34587','GSD due to LAMP-2 deficiency'), +('34587','Glycogenosis due to LAMP-2 deficiency'), +('34587','Lysosomal glycogen storage disease with normal acid maltase activity'), +('34592','Bare lymphocyte syndrome type 1'), +('34592','MHC class I deficiency'), +('34528','HOMG2'), +('34528','Isolated autosomal dominant hypomagnesemia'), +('34528','Isolated renal magnesium wasting'), +('34528','Renal hypomagnesemia type 2'), +('536516','EDS/myopathy overlap syndrome'), +('536516','Myopathic EDS'), +('536471','Spondylodysplastic EDS'), +('536471','spEDS'), +('536467','B3GALT6-related spEDS'), +('536467','Beta3GalT6-deficient EDS'), +('536467','Ehlers-Danlos syndrome progeroid type 2'), +('536467','spEDS-B3GALT6'), +('536545','EDS VI'), +('536545','Ehlers-Danlos syndrome type 6'), +('536545','Kyphoscoliotic EDS'), +('536545','kEDS'), +('536532','AEBP1-related EDS'), +('536532','AEBP1-related Ehlers-Danlos syndrome'), +('536532','Classical-like EDS type 2'), +('536532','clEDS type 2'), +('537072','PLG-related HAE with normal C1 inhibitor'), +('32960','Familial Hibernian fever'), +('32960','TNF receptor 1-associated periodic syndrome'), +('32960','TRAPS syndrome'), +('52662','Acquired embryofetopathy'), +('52530','PT-VWD'), +('52530','Platelet type-von Willebrand disease'), +('52530','Pseudo-von Willebrand disease type 2B'), +('537891','ANGPT1-related HAE with normal C1 inhibitor'), +('52428','CMD1C'), +('52428','MDC1C'), +('52503','Creatine transporter deficiency'), +('52503','SLC6A8 deficiency'), +('52430','IBMPFD'), +('52430','Limb-girdle muscular dystrophy with Paget disease of bone'), +('52430','Pagetoid amyotrophic lateral sclerosis'), +('52430','Pagetoid neuroskeletal syndrome'), +('52416','LCM'), +('52416','MCL'), +('52416','Mantle zone lymphoma'), +('52427','RPA'), +('52417','Extranodal marginal zone B-cell lymphoma'), +('52417','MALToma'), +('52417','Mucosa-associated lymphatic tissue lymphoma'), +('52417','Mucosa-associated lymphoid tissue lymphoma'), +('52056','Morava-Mehes syndrome'), +('52055','Graham-Cox syndrome'), +('52368','DDON syndrome'), +('52368','Deafness-dystonia-optic neuronopathy syndrome'), +('52368','Hearing loss-dystonia-optic neuronopathy syndrome'), +('52759','Systemic vasculitis'), +('52901','Isolated FSH deficiency'), +('538863','Ulcerative pyoderma gangrenosum'), +('538756','Familial multiple trichodiscomas'), +('538574','Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome'), +('53583','DYT9'), +('53583','Episodic choreoathetosis/spasticity'), +('53540','Enhanced S-cone syndrome'), +('53540','Retinoschisis with early nyctalopia'), +('53372','Familial trembling of the chin'), +('53372','Hereditary chin myoclonus'), +('53372','Hereditary chin-trembling'), +('53351','DYT3'), +('53351','Lubag'), +('53351','Lubag syndrome'), +('53351','XDP'), +('54260','LVNC'), +('54260','Left ventricular hypertrabeculation'), +('54260','Spongy myocardium'), +('54247','Benson syndrome'), +('54247','Biparietal Alzheimer disease'), +('54247','PCA'), +('538934','X-linked lymphoproliferative syndrome type 2'), +('538934','XIAP deficiency syndrome'), +('538934','XLP2'), +('54251','Aseptic abscesses syndrome'), +('54251','Aseptic systemic abscesses'), +('54251','Disseminated aseptic abscesses'), +('538931','SAP deficiency'), +('538931','SH2D1A/SLAM-associated protein deficiency'), +('538931','X-linked lymphoproliferative syndrome type 1'), +('538931','XLP1'), +('54057','Moschcowitz disease'), +('54057','TTP'), +('53739','Distal spinal muscular atrophy'), +('53739','dHMN'), +('53739','dSMA'), +('54028','Kelly-Paterson syndrome'), +('54028','Sideropenic dysphagia'), +('53719','Bonnet-Dechaume-Blanc syndrome'), +('53719','CAMS2'), +('53719','Cerebrofacial arteriovenous metameric syndrome type 2'), +('53721','Cobb syndrome'), +('53721','Cutaneomeningospinal angiomatosis'), +('53721','SAMS 1-31'), +('53696','AAHD'), +('53696','Vuopala disease'), +('538872','Granulomatous pyoderma gangrenosum'), +('53697','GDD'), +('538869','Phemphigoid pyoderma gangrenosum'), +('53693','Fellman disease'), +('53693','Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome'), +('48818','Hereditary ceruloplasmin deficiency'), +('48736','Embryonal carcinoma of the CNS'), +('49041','Idiopathic retroperitoneal fibrosis'), +('49041','Ormond disease'), +('48918','Focal nodular myositis'), +('48918','Inflammatory pseudotumor of skeletal muscle'), +('49382','ACHM'), +('49382','Complete or incomplete color blindness'), +('49382','Pingelapese blindness'), +('49382','Rod monochromacy'), +('49382','Rod monochromatism'), +('49382','Total color blindness'), +('49042','DGI'), +('49042','DGI without OI'), +('49042','DI'), +('49042','Dentinogenesis imperfecta without osteogenesis imperfecta'), +('49042','Non-syndromic DGI'), +('49042','Non-syndromic dentinogenesis imperfecta'), +('49042','Opalescent teeth without OI'), +('49042','Opalescent teeth without osteogenesis imperfecta'), +('538958','CID due to CD70 deficiency'), +('48431','CCFDN'), +('538963','Autosomal recessive lymphoproliferative disease due to ITK deficiency'), +('538963','ITK deficiency'), +('48686','Body cavity-based lymphoma'), +('48686','PEL'), +('48652','22q13.3 deletion'), +('48652','Phelan-McDermid syndrome'), +('50809','Singh-Williams-McAlister syndrome'), +('50810','Basel-Vanagaite-Sirota syndrome'), +('50811','Lipodystrophy-intellectual disability-hearing loss syndrome'), +('50811','Rajab-Spranger syndrome'), +('50812','Ahn-Lerman-Sagie syndrome'), +('50814','Boyadjiev-Jabs syndrome'), +('50815','Branchiogenic hearing loss syndrome'), +('50815','Mégarbané-Loiselet syndrome'), +('50816','Roifman-Melamed syndrome'), +('50816','SPENCDI'), +('50816','Spondyloenchondrodysplasia with immune dysregulation'), +('49804','Amyloid lichen'), +('49804','Lichen amyloidosus'), +('49827','Rogers syndrome'), +('49827','TRMA'), +('49827','Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness'), +('49827','Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss'), +('50945','BLC'), +('50945','BOCD'), +('50945','Blomstrand chondrodysplasia'), +('50945','Blomstrand osteochondrodysplasia'), +('50945','Chondrodysplasia, Blomstrand type'), +('50944','Eccrine tumors-ectodermal dysplasia'), +('50944','Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome'), +('50944','Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome'), +('50944','Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome'), +('50944','SSPS'), +('51083','SQTS'), +('50839','Bartonellosis due to Bartonella henselae infection'), +('50817','Verloes-Deprez syndrome'), +('50943','Erythrokeratolysis hiemalis'), +('50943','Oudtshoorn disease'), +('50942','Keratosis palmoplantaris striata'), +('50942','Keratosis palmoplantaris striata et areata'), +('50942','Keratosis palmoplantaris varians of Wachters'), +('50920','Mammary polyadenomatosis'), +('50918','Histiocytic necrotizing lymphadenitis'), +('50918','Kikuchi disease'), +('52054','Longman-Tolmie syndrome'), +('52022','11p11.2 deletion'), +('52022','Proximal 11p deletion syndrome'), +('52047','Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency'), +('51577','Lissencephaly type 2'), +('51608','Idiopathic infantile arterial calcification'), +('51608','Idiopathic obliterative arteriopathy'), +('51608','Infantile arteriosclerosis'), +('51608','Occlusive infantile arteriopathy'), +('51208','FTCD deficiency'), +('51208','Formiminotransferase cyclodeaminase deficiency'), +('51208','Glutamate formiminotransferase deficiency'), +('541507','ACAPA'), +('541478','AAOCA'), +('51636','WILM'), +('51636','Warts-hypogammaglobulinemia-infections-myelokathexis syndrome'), +('51636','Warts-infections-leukopenia-myelokatexis syndrome'), +('541454','AORCA'), +('541454','R-ACAOS'), +('541454','Right coronary artery from left aortic sinus'), +('51890','ACNES'), +('51890','Intercostal nerve syndrome'), +('51890','Rectus abdominis syndrome'), +('541443','AOLCA'), +('541443','L-ACAOS'), +('541443','Left coronary artery from right aortic sinus'), +('542301','Severe combined immunodeficiency due to RLTPR deficiency'), +('542310','LCC'), +('542310','Labrune syndrome'), +('42642','Marshall syndrome with periodic fever'), +('42642','Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome'), +('42665','Hypopigmentation-deafness syndrome'), +('42665','Hypopigmentation-hearing loss syndrome'), +('542323','CAR T cell therapy-associated CRS'), +('542323','Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome'), +('43116','Serotonergic syndrome'), +('43116','Serotonin storm'), +('43116','Serotonin toxicity'), +('43116','Serotonin toxidrome'), +('542592','Oppenheim-Urbach disease'), +('542643','Livedo reticularis with summer ulcerations'), +('542643','Milian atrophie blanche'), +('542643','Segmental hyalinizing vasculitis'), +('42775','PHACES syndrome'), +('42775','Pascual-Castroviejo syndrome type 2'), +('43115','Aconitase deficiency'), +('43115','ISCU myopathy'), +('43115','Iron-sulfur cluster deficiency myopathy'), +('43115','Myopathy with exercise intolerance, Swedish type'), +('542657','Carbonic anhydrase XII deficiency'), +('44890','GIST'), +('44890','Gastrointestinal stromal sarcoma'), +('45358','FEOM'), +('46487','Acquired epidermolysis bullosa'), +('544254','SYNGAP1-related DEE'), +('46486','Cicatricial pemphigoid'), +('46486','Mucosal pemphigoid'), +('46486','Mucosynechial pemphigoid'), +('46348','Familial rectal pain'), +('46059','Sterol C5-desaturase deficiency'), +('46135','PCNSL'), +('46135','Primary CNS lymphoma'), +('46135','Primary brain lymphoma'), +('544458','HUS'), +('47044','HPRCC'), +('46724','Intracranial arteriovenous malformation'), +('46627','Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits'), +('46489','BSLE'), +('46532','HPFH-beta-thalassemia syndrome'), +('48372','Non-cirrhotic nodulation'), +('48162','MADSAM'), +('48162','Multifocal acquired demyelinating sensory and motor neuropathy'), +('544493','S. pneumoniae-associated HUS'), +('544493','SP-HUS'), +('544503','RNF13-related severe EOEE'), +('47612','Splenomegaly-neutropenia-rheumatoid arthritis syndrome'), +('544482','Infection-related HUS'), +('47159','Renal tubular acidosis type 2'), +('47159','pRTA'), +('544488','Bachmann-Bupp syndrome'), +('544488','Ornithine decarboxylase deficiency'), +('544472','aHUS with complement gene abnormality'), +('47045','FCAS'), +('47045','FCU'), +('47045','Familial cold autoinflammatory syndrome'), +('544602','Congenital myopathy with fast-twitch fiber atrophy'), +('544602','Congenital myopathy with reduced type II muscle fibers'), +('544602','Congenital myopathy with type 2 muscle fiber atrophy'), +('544602','Congenital myopathy with type II fiber atrophy'), +('48377','Pustulosis subcornealis'), +('48377','Sneddon-Wilkinson disease'), +('48377','Subcorneal pustular dermatitis'), +('68361','Rare hearing loss'), +('68363','Rare dystonic disorder'), +('555402','CARKD deficiency'), +('555407','Apolipoprotein A-I binding protein deficiency'), +('68367','Rare metabolic disease'), +('555437','IgG4-related inflammatory pseudotumor of the liver'), +('555877','Dystrophie valvulaire associée à FLNA'), +('555877','FLNA-related valvular dystrophy'), +('555877','Filamin A-related X-linked myxomatous valvular dysplasia'), +('556030','Early-onset familial hyperreninemic hypoaldosteronism'), +('556030','Severe aldosterone synthase deficiency'), +('556037','Late-onset familial hyperreninemic hypoaldosteronism'), +('556037','Mild aldosterone synthase deficiency'), +('68402','Rare hypokinetic movement disorder'), +('557003','Oculo-cerebro-dental syndrome'), +('90061','Non-infectious choroiditis'), +('519384','Congenital anophthalmos with cyst'), +('90062','Acute hepatic failure'), +('90062','Fulminant hepatic failure'), +('519406','Thygeson superficial punctate keratopathy'), +('90070','Methotrexate intoxication'), +('90050','ROP'), +('90050','Retrolental fibroplasia'), +('90045','Congenital folate malabsorption'), +('519325','Syndromic retinal dystrophy'), +('90041','Stress erythrocytosis'), +('90041','Stress polycythemia'), +('90042','Congenital erythrocytosis due to erythropoietin receptor mutation'), +('90042','Congenital polycythemia due to erythropoietin receptor mutation'), +('90042','Familial erythrocytosis'), +('90042','PFCP'), +('90042','Primary congenital erythrocytosis'), +('90042','Primary familial and congenital polycythemia'), +('90053','Complications after HSCT'), +('90024','Hearing loss with labyrinthine aplasia, microtia, and microdontia'), +('90024','LAMM syndrome'), +('90024','Microdontia-type I microtia-deafness syndrome'), +('90024','Microdontia-type I microtia-hearing loss syndrome'), +('90023','Primary immunodeficiency syndrome due to p14 deficiency'), +('90023','Primary immunodeficiency syndrome with short stature'), +('90020','Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome'), +('90020','Guam disease'), +('90020','Lytico-Bodig disease'), +('90020','PDALS'), +('90020','Parkinsonism-dementia-ALS complex'), +('90002','UCTD'), +('90037','Drug-induced AIHA'), +('90038','D+ HUS'), +('90038','EHEC-HUS'), +('90038','Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli'), +('90038','Hemolytic uremic syndrome with diarrhea'), +('90038','STEC-HUS'), +('90038','Shiga-like toxin-associated HUS'), +('90038','Stx-HUS'), +('90038','Typical HUS'), +('90038','Typical hemolytic uremic syndrome'), +('90035','Donath-Landsteiner hemolytic anemia'), +('90035','Donath-Landsteiner syndrome'), +('90035','PCH'), +('90036','Mixed AIHA'), +('90033','Warm AIHA'), +('90033','wAHA'), +('90033','wAIHA'), +('90026','Primary erythermalgia'), +('89936','X-linked hypophosphatemic rickets'), +('89936','XLH'), +('89844','Microlissencephaly type A'), +('89843','DEB, pruriginosa'), +('89843','DEB-Pr'), +('89843','Pruriginous dystrophic epidermolysis bullosa'), +('89842','Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis'), +('89842','Autosomal recessive dystrophic epidermolysis bullosa, generalized other'), +('89842','Generalized mitis RDEB'), +('89842','RDEB generalisata mitis'), +('89842','RDEB, generalized intermediate'), +('89842','RDEB, non-Hallopeau-Siemens type'), +('89842','RDEB-O'), +('89842','RDEB-generalized other'), +('89842','Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type'), +('89842','Recessive dystrophic epidermolysis bullosa-generalized other'), +('89841','Centripetal dystrophic epidermolysis bullosa'), +('89841','Centripetal recessive dystrophic epidermolysis bullosa'), +('89841','RDEB, centripetalis'), +('89841','RDEB-Ce'), +('89840','JEN-nH'), +('89839','EBSS'), +('90001','Bornholm eye disease'), +('89939','Renal tubular acidosis type 4'), +('89938','Bartter syndrome type 4'), +('89938','Bartter syndrome type IV'), +('89938','Infantile Bartter syndrome with sensorineural hearing loss'), +('89937','ADHR'), +('89937','Autosomal dominant hypophosphatemia'), +('90342','XPV'), +('90348','ADCL'), +('90349','ARCL1'), +('90349','Autosomal recessive cutis laxa with severe systemic involvement'), +('90349','Autosomal recessive cutis laxa, pulmonary emphysema type'), +('90350','ARCL2'), +('90350','Cutis laxa with joint laxity and developmental delay'), +('90362','Waldmann disease'), +('90290','Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome'), +('90289','Localized fibrosing scleroderma'), +('90291','Systemic scleroderma'), +('90318','EDS II'), +('90309','EDS I'), +('90322','Cockayne syndrome type II'), +('90321','Cockayne syndrome type I'), +('90324','Cockayne syndrome type III'), +('90156','Lipodystrophia centrifugalis abdominalis infantilis'), +('90157','Lipoatrophy caused by injected drug'), +('90160','Lipoatrophia semicircularis'), +('90160','Semicircular lipoatrophy'), +('90185','Meige-like disease'), +('90186','Hereditary lymphedema type II'), +('90186','Meige lymphedema'), +('90285','Lupus erythematosus profundus'), +('90283','Intermittent cutaneous lupus'), +('90078','Invasive infections due to VRE'), +('90103','Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome'), +('90103','Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers'), +('90103','Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers'), +('90118','AR-CMT2, Ouvrier type'), +('90118','Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type'), +('90118','SEOAN due to MFN2 deficiency'), +('90117','HMSNP'), +('90117','Hereditary motor and sensory neuropathy, proximal type'), +('90114','CMTDI'), +('90120','CMT6'), +('90120','Charcot-Marie-Tooth disease type 6'), +('90120','HMSN 6'), +('90120','HMSN VI'), +('90120','Hereditary motor and sensory neuropathy type VI'), +('90120','Peripheral neuropathy and optic atrophy'), +('90119','AR-CMT2 with acrodystrophy'), +('90119','Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy'), +('90119','Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy'), +('90119','HMSN with acrodystrophy'), +('525731','Pediatric-onset Basedow disease'), +('88673','HCC'), +('88644','ARCA1'), +('88644','Autosomal recessive cerebellar ataxia type 1'), +('88644','SCAR8'), +('88660','Early-onset hypertension with exacerbation in pregnancy'), +('88660','Pseudohyperaldosteronism type 2'), +('88637','4H syndrome'), +('88639','HIBCH deficiency'), +('88639','Methacrylic aciduria'), +('88639','Valine metabolic defect'), +('88642','Channelopathy-associated CIP'), +('88632','Anterior segment dysgenesis'), +('88633','SLK'), +('88633','Theodore superior limbic keratoconjunctivitis'), +('88633','Theodore syndrome'), +('88635','Myopathy due to calsequestrin and SERCA1 protein overload'), +('88635','Vacuolar aggregate myopathy'), +('88621','Congenital ichthyosis type 4'), +('88621','IPS'), +('88628','Autosomal recessive posterior column ataxia and retinitis pigmentosa'), +('88628','PCARP'), +('88629','Blue colour blindness'), +('88629','Congenital tritanopia'), +('88629','Tritan colour blindness'), +('88619','ADANE'), +('88619','Recurrent acute necrotizing encephalopathy'), +('88618','Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency'), +('88616','AR-NSID'), +('88616','NS-ARID'), +('87884','Isolated genetic deafness'), +('87884','Isolated genetic hearing loss'), +('87884','Non-syndromic genetic hearing loss'), +('87876','Infantile dysmorphic sialidosis'), +('87503','Keratosis palmoplantaris transgrediens of Siemens'), +('87503','Meleda disease'), +('87503','Transgrediens palmoplantar keratoderma of Siemens'), +('86923','Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type'), +('86923','PPK, Gamborg-Nielsen type'), +('86919','Palmoplantar keratoderma-clinodactyly syndrome'), +('86918','Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome'), +('86915','Irons-Bhan syndrome'), +('86915','Irons-Bianchi syndrome'), +('522077','SYT1-related neurodevelopmental disorder'), +('86913','Myoclonic status in non-progressive encephalopathies'), +('86913','Myoclonus epilepsy in non-progressive encephalopathies'), +('86909','Benign myoclonic epilepsy of infancy'), +('86909','Benign myoclonus epilepsy of infancy'), +('86908','HHE syndrome'), +('86908','Hemiconvulsion-hemiplegia-epilepsy syndrome'), +('86908','IHHS'), +('86904','MTX-LPD'), +('86904','MTX-associated lymphoproliferative disorders'), +('521438','Congenital NAD deficiency disorder'), +('86900','Interdigitating cell sarcoma'), +('86900','Reticulum cell sarcoma'), +('521426','PLAAND'), +('521414','ATP1A1-related CMT2'), +('521414','ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2'), +('521414','CMT2DD'), +('521258','Dup(X)(q25)'), +('521258','Xq25 microtriplication'), +('521268','SLC5A6-related congenital disorder of glycosylation'), +('521390','SINO syndrome'), +('89838','EBS, autosomal recessive K14'), +('89838','EBS-AR KRT14'), +('89838','KRT14-related autosomal recessive EBS'), +('89838','KRT14-related autosomal recessive epidermolysis bullosa simplex'), +('521219','Extrinsic biliary compression syndrome'), +('88949','ADTKD-MUC1'), +('88949','MCKD1'), +('88949','MUC1-related autosomal dominant medullary cystic kidney disease'), +('88949','MUCI-related ADTKD'), +('88949','Medullary cystic kidney disease type 1'), +('88950','ADTKD-UMOD'), +('88950','Autosomal dominant medullary cystic kidney disease type 2'), +('88950','Familial juvenile hyperuricemic nephropathy type 1'), +('88950','MCKD2'), +('88950','UMOD-related ADTKD'), +('88950','Uromodulin kidney disease'), +('88950','Uromodulin-associated kidney disease'), +('88940','PHA2C'), +('88939','PHA2B'), +('519930','Keratomycosis'), +('519930','Mycotic keratitis'), +('88938','PHA2A'), +('88924','Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome'), +('93256','FXTAS syndrome'), +('528105','HELIX syndrome'), +('93218','Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis'), +('528084','Complex neurodevelopmental disorder'), +('93262','Crouzon-dermoskeletal syndrome'), +('93258','Classic Pfeiffer syndrome'), +('93271','Short rib-polydactyly syndrome type 3'), +('93269','Short rib-polydactyly syndrome type 2'), +('93270','Short rib-polydactyly syndrome type 1'), +('93268','Short rib-polydactyly syndrome type 4'), +('93282','Spondyloepimetaphyseal dysplasia, Pakistani type'), +('93277','Jaffe-Lichtenstein disease'), +('93274','Cloverleaf skull-micromelic bone dysplasia syndrome'), +('93274','TD2'), +('93274','Thanatophoric dwarfism type 2'), +('93274','Thanatophoric dwarfism-cloverleaf skull syndrome'), +('527497','Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia'), +('527497','SPAX8'), +('93110','PUV'), +('92050','IED'), +('92050','Intestinal epithelial dysplasia'), +('92050','Non-syndromic congenital tufting enteropathy'), +('93160','HVDRR'), +('93160','Hereditary vitamin D-resistant rickets'), +('93160','VDDR II'), +('93160','VDRR II'), +('93160','Vitamin D-dependent rickets type II'), +('93160','Vitamin D-resistant rickets type II'), +('93164','Secondary pseudohypoaldosteronism'), +('93164','TPHA'), +('93114','CMTDIE'), +('93114','Charcot-Marie-Tooth disease-nephropathy syndrome'), +('93111','ADTKD-HNF1B'), +('93111','HNF1B-MODY'), +('93111','MODY5'), +('93111','Maturity-onset diabetes of the young type 5'), +('93111','RCAD syndrome'), +('93111','Renal cysts and diabetes syndrome'), +('93111','Renal dysfunction-early-onset diabetes syndrome'), +('93207','Steroid-sensitive MCNS'), +('93213','Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis'), +('93206','Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis'), +('93322','Congenital absence of tibia'), +('93322','Congenital aplasia and dysplasia of the tibia with intact fibula'), +('93322','Congenital longitudinal deficiency of the tibia'), +('93322','Tibial longitudinal meromelia'), +('93321','Congenital longitudinal deficiency of the radius'), +('93321','Radial clubhand'), +('93321','Radial longitidinal meromelia'), +('93321','Radial ray agenesis'), +('93320','Congenital longitudinal deficiency of the ulna'), +('93320','Ulnar clubhand'), +('93320','Ulnar longitudinal meromelia'), +('93323','Congenital longitudinal deficiency of the fibula'), +('93323','Fibular longitudinal meromelia'), +('93329','Micromelic dysplasia-dislocation of radius syndrome'), +('93336','PPD2'), +('93336','Preaxial polydactyly type 2'), +('93333','Cousin syndrome'), +('93333','Familial pelvis-scapular dysplasia'), +('93339','PPD1'), +('93339','Preaxial polydactyly type 1'), +('93337','PPD3'), +('93337','Preaxial polydactyly type 3'), +('93338','PPD4'), +('93338','Preaxial polydactyly type 4'), +('93347','Spondyloepimetaphyseal dysplasia, Menger type'), +('93347','Spondyloepimetaphyseal dysplasia, anauxetic type'), +('93356','SEMD type 2'), +('93356','SEMD, Missouri type'), +('93356','Spondyloepimetaphyseal dysplasia type 2'), +('93351','SEMD, Irapa type'), +('93352','SEMD, Shohat type'), +('93292','Pancreatic adenoma'), +('93293','Duane-radial ray syndrome'), +('93296','Achondrogenesis, Langer-Saldino type'), +('93298','Achondrogenesis, Parenti-Fraccaro type'), +('93299','Achondrogenesis, Houston-Harris type'), +('93302','Brachyolmia type 2'), +('93304','Brachyolmia type 3'), +('93307','Autosomal recessive multiple epiphyseal dysplasia'), +('93307','EDM4'), +('93307','MED4'), +('93307','Polyepiphyseal dysplasia type 4'), +('93307','rMED'), +('93308','EDM1'), +('93308','MED1'), +('93308','Polyepiphyseal dysplasia type 1'), +('93311','BHMED'), +('93311','Bilateral hereditary micro-epiphyseal dysplasia'), +('93311','EDM5'), +('93311','MED5'), +('93311','Polyepiphyseal dysplasia type 5'), +('93315','Spondylometaphyseal dysplasia, Sutcliffe type'), +('93316','Spondylometaphyseal dysplasia with severe genu valgum'), +('93316','Spondylometaphyseal dysplasia, Algerian type'), +('529962','Del(17)(q24)'), +('529864','Secondary erythermalgia'), +('529852','Combined HCC-CC'), +('529852','Combined hepatocellular-cholangiocarcinoma'), +('529852','Hepatocholangiocarcinoma'), +('529852','cHCC-CC'), +('90674','Isolated TSH deficiency'), +('90674','Isolated thyrotropin deficiency'), +('529819','Pseudoexfoliation syndrome'), +('529819','XFS'), +('529808','BIND'), +('529808','Bilirubin-induced neurological dysfunction'), +('529808','CBE'), +('529808','KSD'), +('529808','Kernicterus spectrum disorder'), +('90658','CMT1E'), +('90658','Charcot-Marie-Tooth disease-deafness syndrome'), +('90658','Charcot-Marie-Tooth disease-hearing loss syndrome'), +('529799','ABE'), +('529799','Acute kernicterus'), +('90791','CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency'), +('90790','CLAH'), +('90787','46,XY DSD due to testicular steroidogenesis defect'), +('90786','46,XY DSD due to adrenal and testicular steroidogenesis defect'), +('90783','46,XY DSD due to a testosterone synthesis defect'), +('90776','46,XX DSD induced by fetal androgens excess'), +('90771','DSD'), +('529980','NFAT5 haploinsufficiency'), +('530033','Dermoid or epidermoid cyst of the CNS'), +('90695','Genetic panhypopituitarism'), +('529965','Pilarowski-Bjornsson syndrome'), +('529970','Acephalic spermatozoa syndrome'), +('90625','X-linked isolated neurosensory deafness type DFN'), +('90625','X-linked isolated neurosensory hearing loss type DFN'), +('90625','X-linked isolated sensorineural deafness type DFN'), +('90625','X-linked isolated sensorineural hearing loss type DFN'), +('90625','X-linked non-syndromic neurosensory deafness type DFN'), +('90625','X-linked non-syndromic neurosensory hearing loss type DFN'), +('90625','X-linked non-syndromic sensorineural hearing loss type DFN'), +('90635','Autosomal dominant isolated neurosensory deafness type DFNA'), +('90635','Autosomal dominant isolated neurosensory hearing loss type DFNA'), +('90635','Autosomal dominant isolated sensorineural deafness type DFNA'), +('90635','Autosomal dominant isolated sensorineural hearing loss type DFNA'), +('90635','Autosomal dominant non-syndromic neurosensory deafness type DFNA'), +('90635','Autosomal dominant non-syndromic neurosensory hearing loss type DFNA'), +('90635','Autosomal dominant non-syndromic sensorineural hearing loss type DFNA'), +('90636','Autosomal recessive isolated neurosensory deafness type DFNB'), +('90636','Autosomal recessive isolated neurosensory hearing loss type DFNB'), +('90636','Autosomal recessive isolated sensorineural deafness type DFNB'), +('90636','Autosomal recessive isolated sensorineural hearing loss type DFNB'), +('90636','Autosomal recessive non-syndromic neurosensory deafness type DFNB'), +('90636','Autosomal recessive non-syndromic neurosensory hearing loss type DFNB'), +('90636','Autosomal recessive non-syndromic sensorineural hearing loss type DFNB'), +('529468','Monoclonal MCAD'), +('529574','DRS with deafness'), +('529574','DRS with hearing loss'), +('529574','DURS with deafness'), +('529574','DURS with hearing loss'), +('529574','Duane retraction syndrome with congenital hearing loss'), +('90393','Atypical tuberous myxedema of Jadassohn-Dosseker'), +('90395','Cutaneous mucinosis of infancy'), +('90368','Hereditary hypotrichosis simplex of the scalp'), +('90652','OPD II syndrome'), +('90652','OPD syndrome 2'), +('529665','GPAA1-related biosynthesis defect'), +('90647','Long QT interval-deafness syndrome'), +('90647','Long QT interval-hearing loss syndrome'), +('90650','OPD I syndrome'), +('90650','OPD syndrome 1'), +('90650','Taybi syndrome'), +('90649','OFD7'), +('90649','Oral-facial-digital syndrome type 7'), +('90649','Whelan syndrome'), +('90646','Hearing loss-hypogonadism syndrome'), +('90642','Syndromic genetic hearing loss'), +('90641','Isolated mitochondrial neurosensory deafness'), +('90641','Isolated mitochondrial neurosensory hearing loss'), +('90641','Isolated mitochondrial sensorineural deafness'), +('90641','Isolated mitochondrial sensorineural hearing loss'), +('90641','Mitochondrial non-syndromic neurosensory deafness'), +('90641','Mitochondrial non-syndromic neurosensory hearing loss'), +('90641','Mitochondrial non-syndromic sensorineural hearing loss'), +('91387','Familial TAAD'), +('91378','Familial angioneurotic edema'), +('91378','HAE'), +('91378','Hereditary angioneurotic edema'), +('91378','Hereditary bradykinine-induced angioedema'), +('91378','Hereditary non histamine-induced angioedema'), +('91385','AAE'), +('91385','Acquired C1 inhibitor deficiency'), +('91385','Acquired angioneurotic edema'), +('91385','Acquired bradykinine-induced angioedema'), +('91385','Acquired non histamine-induced angioedema'), +('91412','Jaw-winking syndrome'), +('91412','Mandibulo-palpebral synkinesis-ptosis syndrome'), +('91412','Marcus-Gunn phenomenon'), +('91413','Congenital Claude-Bernard-Horner syndrome'), +('91354','Hypopituitarism due to empty sella turcica syndrome'), +('91364','NSIP'), +('91364','Non-specific idiopathic interstitial pneumonia'), +('91365','Acquired ciliary dyskinesia'), +('91358','Congenital esophageal pouch'), +('91359','CPI'), +('91495','Congenital retinal detachment'), +('91495','NCRNA disease'), +('91495','Non-syndromic congenital retinal non-attachment'), +('91495','PFVS'), +('91495','PHPV'), +('91495','Persistent fetal vasculature syndrome'), +('91546','Lyme borreliosis'), +('91500','Acute tubulointerstitial nephritis and uveitis syndrome'), +('91500','Dobrin syndrome'), +('91500','TINU syndrome'), +('91481','Ring dermoid syndrome'), +('91414','Epithelioma calcificans of Malherbe'), +('91414','Pilomatricoma'), +('91489','Congenital anterior megalophthalmia'), +('91131','CDG syndrome type Im'), +('91131','CDG-Im'), +('91131','CDG1M'), +('91131','Carbohydrate deficient glycoprotein syndrome type Im'), +('91131','Congenital disorder of glycosylation type 1m'), +('91131','Congenital disorder of glycosylation type Im'), +('91131','Dolichol kinase deficiency'), +('91131','Hypotonia and ichthyosis due to dolichol phosphate deficiency'), +('91132','Hypotrichosis-congenital ichthyosis syndrome'), +('91132','IFAH syndrome'), +('91132','IHS'), +('91132','Ichthyosis-follicular atrophoderma-hypotrichosis syndrome'), +('91132','Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome'), +('91133','Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome'), +('90793','CAH due to 17-alpha-hydroxylase deficiency'), +('90793','Combined 17-hydroxylase/17,20-lyase deficiency'), +('90794','Classic 21-OHD CAH'), +('90795','CAH due to 11-beta-hydroxylase deficiency'), +('90795','CYP11B1 deficiency'), +('90797','PAIS'), +('90797','Partial androgen resistance syndrome'), +('91024','AR-CMT2'), +('91024','Autosomal recessive axonal Charcot-Marie-Tooth disease type 2'), +('91347','Pituitary thyrotrophic adenoma'), +('91347','TSH-oma'), +('91347','Thyroid stimulating hormone-secreting pituitary adenoma'), +('91347','Thyrotroph adenoma'), +('91349','NFPA'), +('91348','Functioning pituitary gonadotropic adenoma'), +('91348','Gonadotroph adenoma'), +('91136','Acquired Fanconi syndrome secondary to monoclonal gammopathy'), +('91136','Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome'), +('91135','PXE-like syndrome'), +('91135','Pseudoxanthoma elasticum-like syndrome'), +('91138','Essential cryoglobulinemia'), +('91138','Essential mixed cryoglobulinemia'), +('91138','Mixed cryoglobulinemia'), +('91138','Primary cryoglobulinemia'), +('91137','Immunotactoid or fibrillary glomerulonephritis'), +('91140','Unspecified JIA'), +('91139','Cryoglobulinemia type 1'), +('528623','HAE with C1 inhibitor deficiency'), +('528623','HAE with C1Inh deficiency'), +('528623','Hereditary angioneurotic edema with C1 inhibitor deficiency'), +('528623','Hereditary angioneurotic edema with C1Inh deficiency'), +('91144','46,XX DSD induced by maternal-derived androgen'), +('528647','HAE with normal C1 inhibitor'), +('528647','HAE with normal C1Inh'), +('528647','Hereditary angioedema with normal C1 inhibitor'), +('528647','Hereditary angioneurotic edema with normal C1 inhibitor'), +('528647','Hereditary angioneurotic edema with normal C1Inh'), +('528663','Acquired angioneurotic edema with C1 inhibitor deficiency'), +('528663','Acquired angioneurotic edema with C1Inh deficiency'), +('79388','MPS with skin involvement'), +('79390','Rare skin photosensitivity'), +('79396','EBS, generalized severe'), +('79396','Epidermolysis bullosa simplex, Dowling-Meara type'), +('79396','Epidermolysis bullosa simplex, herpetiformis'), +('79397','EBS-MP'), +('79394','CIE'), +('79394','Erythrodermic ichthyosis'), +('79394','Non-bullous congenital ichthyosiform erythroderma'), +('79395','Camisa disease'), +('79395','Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome'), +('79395','Loricrin keratoderma'), +('79395','Vohwinkel syndrome with ichthyosis'), +('79373','Ectodermal dysplasia'), +('79414','Wooly hair nevus'), +('79399','EBS, generalized intermediate'), +('79399','Epidermolysis bullosa simplex, Koebner type'), +('79399','Epidermolysis bullosa simplex, Köbner type'), +('79399','Generalized EBS, non-Dowling-Meara type'), +('79399','Generalized epidermolysis bullosa simplex, non-Dowling-Meara type'), +('79401','EBS-O'), +('79400','EBS-loc'), +('79400','Epidermolysis bullosa simplex of palms and soles'), +('79400','Epidermolysis bullosa simplex, Weber-Cockayne type'), +('79403','Carmi syndrome'), +('79403','JEB-PA'), +('79402','GABEB'), +('79402','Generalized atrophic benign epidermolysis bullosa'), +('79402','Generalized junctional epidermolysis bullosa, non-Herlitz type'), +('79402','JEB, generalized intermediate'), +('79402','JEB-nH gen'), +('79402','Junctional epidermolysis bullosa generalisata mitis'), +('79402','Junctional epidermolysis bullosa, Disentis type'), +('79405','EBJ-I'), +('79405','Inverse JEB'), +('79405','JEB-I'), +('79404','Epidermolysis bullosa letalis'), +('79404','JEB, generalized severe'), +('79404','JEB-H'), +('79404','Junctional epidermolysis bullosa generalisata gravis'), +('79404','Junctional epidermolysis bullosa, Herlitz type'), +('79404','Junctional epidermolysis bullosa, Herlitz-Pearson type'), +('79407','DDEB, Cockayne-Touraine type'), +('79406','EB progressive'), +('79406','JEB-lo'), +('79409','Dystrophic epidermolysis bullosa inversa'), +('79409','Inverse RDEB'), +('79409','Inverse recessive dystrophic epidermolysis bullosa'), +('79409','RDEB-I'), +('79408','Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis'), +('79408','Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type'), +('79408','RDEB generalisata gravis'), +('79408','RDEB, Hallopeau-Siemens type'), +('79408','RDEB-sev gen'), +('79408','Severe generalized RDEB'), +('79411','DEB, bullous dermolysis of the newborn'), +('79411','DEB-BDN'), +('79410','DEB-Pt'), +('79410','Pretibial DEB'), +('79452','Hereditary lymphedema type I'), +('79452','Nonne-Milroy lymphedema'), +('79458','Congenital hypotrichosis-milia syndrome'), +('79456','DCM'), +('79456','Diffuse cutaneous maculopapulous mastocytosis'), +('79457','Urticaria pigmentosa'), +('79455','Cutaneous local mastocytoma'), +('79455','Multiple mastocytoma'), +('79455','Solitary mastocytoma'), +('79435','OCA4'), +('79434','OCA1B'), +('79434','Oculocutaneous albinism, Amish type'), +('79434','Platinum oculocutaneous albinism'), +('79434','Yellow oculocutaneous albinism'), +('79433','OCA3'), +('79433','Red oculocutaneous albinism'), +('79433','Rufous oculocutaneous albinism'), +('79433','Xanthous oculocutaneous albinism'), +('79432','OCA2'), +('79431','OCA1A'), +('79431','Tyrosinase-negative oculocutaneous albinism'), +('79430','HPS'), +('79445','AHO-PPHP syndrome'), +('79445','Albright hereditary osteodystrophy-PPHP syndrome'), +('79443','AHO-PHP syndrome Ia'), +('79443','Albright hereditary osteodystrophy-PHP syndrome Ia'), +('79482','Akesson syndrome'), +('79483','Phakomatosis pigmentovascularis type 2'), +('79484','Phakomatosis pigmentovascularis type 5'), +('79485','Phakomatosis pigmentovascularis type 3'), +('79478','Griscelli-Pruniéras syndrome type 3'), +('79480','Seborrheic pemphigus'), +('79480','Senear-Usher syndrome'), +('79490','Capillary lymphangioma'), +('79490','Capillary lymphatic malformation'), +('79490','Cutaneous lymphangioma circumscriptum'), +('79490','Microcystic infiltrating lymphatic malformation'), +('79490','Microcystic lymphangioma'), +('79490','Superficial lymphangioma'), +('79490','Superficial lymphatic malformation'), +('79492','Pili multigemini'), +('79493','CYLD cutaneous syndrome'), +('79489','Cavernous lymphangioma'), +('79489','Cavernous lymphatic malformation'), +('79489','Macrocystic lymphangioma'), +('79466','ILVEN'), +('79474','Atypical progeroid syndrome'), +('79477','Griscelli-Pruniéras syndrome type 2'), +('79477','Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome'), +('79476','Griscelli-Pruniéras syndrome type 1'), +('79476','Hypopigmentation-neurologic impairment syndrome'), +('79473','Protoporphyrinogen oxidase deficiency'), +('79473','Variegate porphyria'), +('79264','Batten disease'), +('79264','JNCL'), +('79264','Juvenile NCL'), +('79264','Spielmeyer-Vogt disease'), +('79263','Hagberg-Santavuori disease'), +('79263','INCL'), +('79263','Infantile NCL'), +('79263','Santavuori disease'), +('79263','Santavuori-Haltia disease'), +('79262','ANCL'), +('79262','Adult NCL'), +('79262','Kufs disease'), +('79269','Heparan sulfamidase deficiency'), +('79269','MPS3A'), +('79269','MPSIIIA'), +('79269','Mucopolysaccharidosis type 3A'), +('79269','Mucopolysaccharidosis type IIIA'), +('79257','Adult-onset GM1 gangliosidosis'), +('79256','Juvenile GM1 gangliosidosis'), +('79256','Late-infantile GM1 gangliosidosis'), +('79255','Infantile GM1 gangliosidosis'), +('79255','Norman-Landing disease'), +('79254','Classic PKU'), +('79261','Type 1D glycogenosis'), +('79260','Type 1C glycogenosis'), +('79259','G6P deficiency type Ib'), +('79259','G6P translocase deficiency'), +('79259','G6PT deficiency'), +('79259','GSD due to G6P deficiency type 1b'), +('79259','GSD due to G6P deficiency type Ib'), +('79259','GSD due to G6PT deficiency'), +('79259','GSD type 1 non a'), +('79259','GSD type 1b'), +('79259','GSD type Ib'), +('79259','GSDIb'), +('79259','Glycogen storage disease due to G6P deficiency type Ib'), +('79259','Glycogen storage disease type 1b'), +('79259','Glycogen storage disease type Ib'), +('79259','Glycogenosis due to glucose-6-phosphatase deficiency type 1b'), +('79259','Glycogenosis due to glucose-6-phosphatase transport defect type Ib'), +('79259','Glycogenosis type 1b'), +('79259','Glycogenosis type Ib'), +('79258','G6P deficiency type 1a'), +('79258','GSD due to G6P deficiency type 1a'), +('79258','GSD due to G6P deficiency type Ia'), +('79258','GSD type 1a'), +('79258','GSDIa'), +('79258','Glycogen storage disease due to G6P deficiency type Ia'), +('79258','Glycogen storage disease type 1a'), +('79258','Glycogenosis due to glucose-6-phosphatase deficiency type 1a'), +('79258','Glycogenosis due to glucose-6-phosphatase deficiency type Ia'), +('79258','Glycogenosis type Ia'), +('79246','PDH phosphatase deficiency'), +('79253','Mild PKU'), +('79253','Variant PKU'), +('79253','Variant phenylketonuria'), +('79253','mPKU'), +('79240','GSD due to liver and muscle phosphorylase kinase deficiency'), +('79240','GSD type 9B'), +('79240','GSD type IXb'), +('79240','Glycogen storage disease type 9B'), +('79240','Glycogen storage disease type IXb'), +('79240','Glycogenosis due to liver and muscle phosphorylase kinase deficiency'), +('79240','Glycogenosis type 9B'), +('79240','Glycogenosis type IXb'), +('79241','BTD deficiency'), +('79241','Juvenile-onset multiple carboxylase deficiency'), +('79241','Late-onset multiple carboxylase deficiency'), +('79238','Epimerase deficiency galactosemia'), +('79238','GALE deficiency'), +('79238','GALE-D'), +('79238','Galactosemia type 3'), +('79238','UDP-galactose-4-epimerase deficiency'), +('79238','Uridine diphosphate galactose-4-epimerase deficiency'), +('79239','GALT deficiency'), +('79239','Galactose-1-phosphate uridyltransferase deficiency'), +('79239','Galactosemia type 1'), +('79244','Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency'), +('79244','Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency'), +('79244','Pyruvate dehydrogenase complex component E2 deficiency'), +('79242','Early-onset multiple carboxylase deficiency'), +('79242','Neonatal multiple carboxylase deficiency'), +('79243','PDHAD'), +('79243','Pyruvate decarboxylase deficiency'), +('79243','Pyruvate dehydrogenase complex E1 component subunit alpha deficiency'), +('79299','Hyperinsulinemic hypoglycemia due to glucokinase deficiency'), +('79298','Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form'), +('79301','3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency'), +('79301','BASD1'), +('79289','Niemann-Pick disease, Nova Scotia type'), +('79293','Complete LCAT deficiency'), +('79293','FLD'), +('79293','Norum disease'), +('79292','FED'), +('79292','Partial LCAT deficiency'), +('79278','EPP'), +('79279','NAGA deficiency type 1'), +('79279','Schindler disease type 1'), +('79280','Adult-onset Alpha-N-acetylgalactosaminidase deficiency'), +('79280','Kanzaki disease'), +('79280','NAGA deficiency type 2'), +('79280','Schindler disease type 2'), +('79281','NAGA deficiency type 3'), +('79281','Schindler disease type 3'), +('79282','CblC defect'), +('79282','Cobalamin C defect'), +('79282','Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC'), +('79282','Methylmalonic aciduria with homocystinuria, type cblC'), +('79283','CblD defect'), +('79283','Cobalamin D defect'), +('79283','Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD'), +('79283','Methylmalonic aciduria with homocystinuria, type cblD'), +('79284','CblF defect'), +('79284','Cobalamin F defect'), +('79284','Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF'), +('79284','Lysosomal membrane cobalamin transporter deficiency'), +('79284','Methylmalonic aciduria with homocystinuria, type cblF'), +('79270','MPS3B'), +('79270','MPSIIIB'), +('79270','Mucopolysaccharidosis type 3B'), +('79270','Mucopolysaccharidosis type IIIB'), +('79270','N-acetyl-alpha-glucosaminidase deficiency'), +('79271','HGSNAT deficiency'), +('79271','Heparan-alpha-glucosaminide N-acetyltransferase deficiency'), +('79271','MPS3C'), +('79271','MPSIIIC'), +('79271','Mucopolysaccharidosis type 3C'), +('79271','Mucopolysaccharidosis type IIIC'), +('79272','GNS deficiency'), +('79272','Glucosamine N-acetyl-6-sulfatase deficiency'), +('79272','MPS3D'), +('79272','MPSIIID'), +('79272','Mucopolysaccharidosis type 3D'), +('79272','Mucopolysaccharidosis type IIID'), +('79277','CEP'), +('79277','Günther disease'), +('79333','CDG syndrome type IIe'), +('79333','CDG-IIe'), +('79333','CDG2E'), +('79333','Carbohydrate deficient glycoprotein syndrome type IIe'), +('79333','Congenital disorder of glycosylation type 2e'), +('79333','Congenital disorder of glycosylation type IIe'), +('79332','Beta-1,4-galactosyltransferase deficiency'), +('79332','CDG syndrome type IId'), +('79332','CDG-IId'), +('79332','CDG2D'), +('79332','Carbohydrate deficient glycoprotein syndrome type IId'), +('79332','Congenital disorder of glycosylation type 2d'), +('79332','Congenital disorder of glycosylation type IId'), +('79330','CDG syndrome type IIb'), +('79330','CDG-IIb'), +('79330','CDG2B'), +('79330','Carbohydrate deficient glycoprotein syndrome type IIb'), +('79330','Congenital disorder of glycosylation type 2b'), +('79330','Congenital disorder of glycosylation type IIb'), +('79330','Glucosidase 1 deficiency'), +('79329','CDG syndrome type IIa'), +('79329','CDG-IIa'), +('79329','CDG2A'), +('79329','Carbohydrate deficient glycoprotein syndrome type IIa'), +('79329','Congenital disorder of glycosylation type 2a'), +('79329','Congenital disorder of glycosylation type IIa'), +('79329','N-acetylglucosaminyltransferase 2 deficiency'), +('79328','CDG syndrome type IL'), +('79328','CDG-IL'), +('79328','CDG1L'), +('79328','Carbohydrate deficient glycoprotein syndrome type IL'), +('79328','Congenital disorder of glycosylation type 1L'), +('79328','Mannosyltransferase 7-9 deficiency'), +('79327','CDG syndrome type Ik'), +('79327','CDG-Ik'), +('79327','CDG1K'), +('79327','Carbohydrate deficient glycoprotein syndrome type Ik'), +('79327','Congenital disorder of glycosylation type 1k'), +('79327','Congenital disorder of glycosylation type Ik'), +('79327','Mannosyltransferase 1 deficiency'), +('79326','CDG syndrome type Ii'), +('79326','CDG-Ii'), +('79326','CDG1I'), +('79326','Carbohydrate deficient glycoprotein syndrome type Ii'), +('79326','Congenital disorder of glycosylation type 1i'), +('79326','Congenital disorder of glycosylation type Ii'), +('79326','Mannosyltransferase 2 deficiency'), +('79325','CDG syndrome type Ih'), +('79325','CDG-Ih'), +('79325','CDG1H'), +('79325','Carbohydrate deficient glycoprotein syndrome type Ih'), +('79325','Congenital disorder of glycosylation type 1h'), +('79325','Congenital disorder of glycosylation type Ih'), +('79325','Glucosyltransferase 2 deficiency'), +('79324','CDG syndrome type Ig'), +('79324','CDG-Ig'), +('79324','CDG1G'), +('79324','Carbohydrate deficient glycoprotein syndrome type Ig'), +('79324','Congenital disorder of glycosylation type 1g'), +('79324','Congenital disorder of glycosylation type Ig'), +('79324','Mannosyltransferase 8 deficiency'), +('79323','CDG syndrome type If'), +('79323','CDG-If'), +('79323','CDG1F'), +('79323','Carbohydrate deficient glycoprotein syndrome type If'), +('79323','Congenital disorder of glycosylation type 1f'), +('79323','Congenital disorder of glycosylation type If'), +('79322','CDG syndrome type Ie'), +('79322','CDG-Ie'), +('79322','CDG1E'), +('79322','Carbohydrate deficient glycoprotein syndrome type Ie'), +('79322','Congenital disorder of glycosylation type 1e'), +('79322','Congenital disorder of glycosylation type Ie'), +('79322','Dol-P-mannosyltransferase deficiency'), +('79321','CDG syndrome type Id'), +('79321','CDG-Id'), +('79321','CDG1D'), +('79321','Carbohydrate deficient glycoprotein syndrome type Id'), +('79321','Congenital disorder of glycosylation type 1d'), +('79321','Congenital disorder of glycosylation type Id'), +('79321','Mannosyltransferase 6 deficiency'), +('79320','CDG syndrome type Ic'), +('79320','CDG-Ic'), +('79320','CDG1C'), +('79320','Carbohydrate deficient glycoprotein syndrome type Ic'), +('79320','Congenital disorder of glycosylation type 1c'), +('79320','Congenital disorder of glycosylation type Ic'), +('79320','Glucosyltransferase 1 deficiency'), +('79319','CDG syndrome type Ib'), +('79319','CDG-Ib'), +('79319','CDG1B'), +('79319','Carbohydrate deficient glycoprotein syndrome type Ib'), +('79319','Congenital disorder of glycosylation type 1b'), +('79319','Congenital disorder of glycosylation type Ib'), +('79319','Phosphomannose isomerase deficiency'), +('79318','CDG syndrome type Ia'), +('79318','CDG-Ia'), +('79318','CDG1A'), +('79318','Carbohydrate deficient glycoprotein syndrome type Ia'), +('79318','Congenital disorder of glycosylation type 1a'), +('79318','Congenital disorder of glycosylation type Ia'), +('79318','Phosphomannomutase 2 deficiency'), +('79316','PEPCK1 deficiency'), +('79317','PEPCK2 deficiency'), +('79314','L-2-HGA'), +('79314','L-2-hydroxyglutaric acidemia'), +('79315','D-2-HGA'), +('79315','D-2-hydroxyglutaric acidemia'), +('79312','Partial deficiency of methylmalonyl-CoA mutase'), +('79312','Vitamin B12-unresponsive methylmalonic aciduria type mut-'), +('79310','Vitamin B12-responsive methylmalonic aciduria type cblA'), +('79311','Vitamin B12-responsive methylmalonic aciduria, type cblB'), +('79306','Byler disease'), +('79306','FIC1 deficiency'), +('79306','PFIC1'), +('79304','BSEP deficiency'), +('79304','PFIC2'), +('79305','PFIC3'), +('79302','BASD3'), +('79302','Oxysterol 7-alpha-hydroxylase deficiency'), +('79303','BASD2'), +('79303','Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency'), +('79361','Epidermolysis bullosa hereditaria'), +('79361','Hereditary epidermolysis bullosa'), +('79357','Hereditary PPK'), +('79357','Hereditary keratosis palmoplantaris'), +('79357','Hereditary palmoplantar hyperkeratosis'), +('79351','PHGDH deficiency, infantile/juvenile form'), +('79350','PSPH deficiency, infantile/juvenile form'), +('79347','Toriello-Higgins-Miller syndrome'), +('85191','Singleton-Merten syndrome'), +('85193','IJO'), +('85193','Juvenile osteoporosis'), +('85192','Familial doughnut lesions of skull'), +('85195','Hereditary expansile polyostotic osteolytic dysplasia'), +('85195','McCabe disease'), +('85196','NAO syndrome'), +('85199','CAP syndrome'), +('85199','CDAGS syndrome'), +('85201','Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome'), +('85200','Ischiospinal dysostosis'), +('85200','Ischiovertebral dysplasia'), +('85203','ACRP syndrome'), +('85203','Syndactyly-preaxial polydactyly-sternal deformity syndrome'), +('85202','Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome'), +('85212','Perinatal lethal Gaucher disease'), +('85274','MRXS7'), +('85274','X-linked intellectual disability, Ahmad type'), +('85275','MCOPS4'), +('85275','Syndromic microphthalmia type 4'), +('85276','Armfield syndrome'), +('85278','X-linked Angelman-like syndrome'), +('85281','Lubs-Arena syndrome'), +('85281','X-linked intellectual disability, Lubs type'), +('85281','X-linked intellectual disability-hypotonia-recurrent Infections syndrome'), +('85282','X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome'), +('85284','BRESHECK syndrome'), +('85286','Syndromic X-linked intellectual disability type 11'), +('85293','Cabezas syndrome'), +('85292','SCAX4'), +('85292','X-linked ataxia-dementia syndrome'), +('85291','Wittwer syndrome'), +('85297','SCAX3'), +('85297','X-linked ataxia-deafness syndrome'), +('85297','X-linked ataxia-hearing loss syndrome'), +('85295','HSD10 deficiency, atypical type'), +('85295','Syndromic X-linked intellectual disability type 10'), +('85295','X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome'), +('85321','Hearing loss-intellectual disability syndrome, Martin-Probst type'), +('85321','Martin-Probst syndrome'), +('85321','X-linked deafness-intellectual disability syndrome syndrome'), +('85321','X-linked hearing loss-intellectual disability syndrome syndrome'), +('85320','Johnson syndrome'), +('85324','MRXS9'), +('85332','Aldred syndrome'), +('85332','Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion'), +('85332','Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)'), +('85332','Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3'), +('85333','Arena syndrome'), +('85410','Oligoarticular JIA'), +('85410','Pauciarticular chronic arthritis'), +('85414','Still disease'), +('85414','Systemic polyarthritis'), +('85414','Systemic-onset JIA'), +('85408','Juvenile polyarthritis without rheumatoid factor'), +('85408','Juvenile rheumatoid factor-negative polyarthritis'), +('85408','Rheumatoid factor-negative polyarticular JIA'), +('85443','Light-chain amyloidosis'), +('85443','Primary amyloidosis'), +('85446','ABeta2Mwt amyloidosis'), +('85446','Dialysis-related amyloidosis'), +('85446','Dialysis-related arthropathy'), +('85446','Wild type ABeta2-microglobulinic amyloidosis'), +('85445','Inflammatory amyloidosis'), +('85445','Reactive amyloidosis'), +('85445','Secondary amyloidosis'), +('85436','Juvenile psoriatic arthritis'), +('85436','Psoriasis-related JIA'), +('85435','Juvenile idiopathic rheumatoid factor-positive polyarthritis'), +('85435','Juvenile polyarthritis with rheumatoid factor'), +('85435','Rheumatoid factor-positive polyarticular JIA'), +('85438','ERA'), +('85438','Enthesitis-related JIA'), +('85458','HCHWA'), +('85453','Familial cutaneous amyloidosis'), +('85453','PDR'), +('85453','Partington disease'), +('85453','X-linked cutaneous amyloidosis'), +('85453','XLPDR'), +('86309','CDG syndrome type Ij'), +('86309','CDG-Ij'), +('86309','CDG1J'), +('86309','Carbohydrate deficient glycoprotein syndrome type Ij'), +('86309','Congenital disorder of glycosylation type 1j'), +('86309','Congenital disorder of glycosylation type Ij'), +('86309','Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency'), +('85448','Familial amyloid polyneuropathy type IV'), +('85448','Familial amyloidosis, Finnish type'), +('85448','Gelsolin amyloidosis'), +('85448','Hereditary amyloidosis, Finnish type'), +('85447','ATTRV30M-related amyloidosis'), +('85447','Familial amyloid polyneuropathy type I'), +('85447','Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type'), +('85447','TTR amyloid neuropathy'), +('85447','Transthyretin amyloid neuropathy'), +('85447','Transthyretin amyloid polyneuropathy'), +('85451','ATTR cardiomyopathy'), +('85451','ATTRV122I-related amyloidosis'), +('85451','TTR-related amyloid cardiomyopathy'), +('85451','TTR-related cardiac amyloidosis'), +('85451','Transthyretin amyloid cardiopathy'), +('85451','Transthyretin-related familial amyloid cardiomyopathy'), +('85450','Amyloidosis, Ostertag type'), +('85450','Familial amyloid nephropathy'), +('85450','Familial renal amyloidosis'), +('85450','Hereditary amyloid nephropathy'), +('85450','Hereditary renal amyloidosis'), +('86812','Autosomal recessive limb-girdle muscular dystrophy type 2K'), +('86812','LGMD type 2K'), +('86812','LGMD2K'), +('86812','Limb-girdle muscular dystrophy type 2K'), +('86812','Limb-girdle muscular dystrophy-intellectual disability syndrome'), +('86812','POMT1-related LGMD R11'), +('86813','Atrophia areata'), +('86813','SCRA'), +('86813','Sveinsson chorioretinal atrophy'), +('86814','ADCME'), +('86814','Autosomal dominant cortical myoclonus and epilepsy'), +('86814','BAFME'), +('86814','Benign adult familial myoclonus epilepsy'), +('86814','FAME'), +('86814','FCMTE'), +('86814','Familial adult myoclonic epilepsy'), +('86814','Familial cortical myoclonic tremor and epilepsy'), +('86815','ALSG'), +('86815','Congenital absence of lacrimal puncta and salivary glands'), +('86789','PTLAH'), +('86795','Papular mucinosis'), +('86797','Intermediate lichen myxedematosus'), +('86820','Familial osteonecrosis of the femoral head'), +('86823','LCH'), +('512017','CLPD-NK'), +('512017','CNKL'), +('512017','Chronic NK lymphocytosis'), +('512017','Chronic NK-cell lymphocytosis'), +('512017','Chronic lymphoproliferative disorder of NK-cells'), +('512017','NK-cell lineage granular lymphocyte proliferative disorder'), +('86818','AMME complex'), +('86818','AMME syndrome'), +('86818','ATS-MR'), +('86819','Papular atrichia'), +('86843','Acute myelodysplasia with myelofibrosis'), +('86843','Acute myelofibrosis'), +('86843','Acute myelosclerosis'), +('86841','5q- syndrome'), +('86839','RAEB'), +('512103','AREI'), +('86834','JMML'), +('86834','Juvenile chronic myelomonocytic leukemia'), +('86830','CMPD-U'), +('86830','Undifferentiated myeloproliferative disease'), +('86855','Solitary plasmacytoma'), +('86854','SMZL'), +('86852','B-PLL'), +('86851','Acute leukemia of indeterminate lineage'), +('86851','Hybrid acute leukemia'), +('86851','Mixed lineage acute leukemia'), +('86850','Chloroma'), +('86850','Extramedullary myeloid tumor'), +('86850','Granulocytic sarcoma'), +('86846','Secondary AML'), +('86846','Secondary acute myeloid leukemia'), +('86846','Therapy-related AML and myelodysplastic syndrome'), +('86845','AML with multilineage dysplasia'), +('86845','AML with myelodysplasia-related features'), +('86845','Acute myeloid leukemia with multilineage dysplasia'), +('86872','Proliferation of large granular lymphocytes'), +('86872','T-LGL'), +('86872','T-cell LGL leukemia'), +('86873','ANKCL'), +('86873','Aggressive NK-cell lymphoma'), +('86873','NK-cell LGL leukemia'), +('86873','NK-cell large granular lymphocyte leukemia'), +('86870','BPDCN'), +('86870','Blastic NK-cell lymphoma'), +('86870','Blastic plasmacytoid dendritic cell neoplasm'), +('86870','Lymphoblastoid variant of NK-cell lymphoma'), +('86870','Monomorphic NK-cell lymphoma'), +('86871','T-PLL'), +('86871','T-cell chronic lymphocytic leukemia'), +('86867','NMZL'), +('86869','LYG'), +('86861','Non-amyloid MIDD'), +('86861','Randall disease'), +('86864','HCD'), +('86886','AILT'), +('86886','Immunoblastic lymphadenopathy'), +('86886','Lymphogranulomatosis X'), +('86886','T-cell lymphoma, AILD type'), +('86893','NLPHL'), +('86884','SPTCL'), +('86884','Subcutaneous panniculitic T-cell lymphoma'), +('86885','Primary cutaneous peripheral T-cell lymphoma NOS'), +('86885','Primary cutaneous unspecified peripheral T-cell lymphoma'), +('86880','EATL'), +('86880','ETTL'), +('86880','Enteropathy-type T-cell lymphoma'), +('86880','Intestinal T-cell lymphoma'), +('86875','ATLL'), +('86879','Angiocentric T-cell lymphoma'), +('86879','Lethal midline granuloma'), +('86879','NK/T-cell lymphoma'), +('86879','NKTCL'), +('86879','Nasal T/natural killer-cell lymphoma'), +('79502','PPKP2'), +('79502','PPPP'), +('79502','Punctate palmoplantar hyperkeratosis type 2'), +('79503','Ichthyosis hystrix, Curth-Macklin type'), +('79504','Ichthyosis, Lambert type'), +('79506','CEPT deficiency'), +('79506','Familial hyperalphalipoproteinemia'), +('79507','LTC4 synthase deficiency'), +('79507','Leukotriene C4 synthase deficiency'), +('79495','Congenital generalized hypertrichosis, Macias-Flores type'), +('79495','Macias Flores-Garcia Cruz-Rivera syndrome'), +('79499','Autosomal dominant hearing loss-onychodystrophy syndrome'), +('79499','DDOD syndrome'), +('79500','Autosomal recessive deafness-onychodystrophy syndrome'), +('79500','Autosomal recessive hearing loss-onychodystrophy syndrome'), +('79500','DOOR syndrome'), +('79500','Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome'), +('79500','Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome'), +('79500','Deafness-onychoosteodystrophy-intellectual disability syndrome'), +('79500','Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome'), +('79500','Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome'), +('79500','Hearing loss-onychoosteodystrophy-intellectual disability syndrome'), +('79501','Buschke-Fischer-Brauer syndrome'), +('79501','Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type'), +('79501','PPKP1'), +('82004','EDS with periventricular heterotopia'), +('82004','Filamin A-related EDS with periventricular nodular heterotopia'), +('79643','Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency'), +('79651','Mild HPA'), +('79651','Non-PKU HPA'), +('79651','mHPA'), +('79644','Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency'), +('83317','Tsutsugamushi disease'), +('83317','Tsutsugamushi fever'), +('83330','Infantile spinal muscular atrophy'), +('83330','SMA type 1'), +('83330','SMA type I'), +('83330','SMA-I'), +('83330','SMA1'), +('83330','Werdnig-Hoffmann disease'), +('83315','Endemic typhus'), +('83315','Flea-borne typhus'), +('83419','Juvenile spinal muscular atrophy'), +('83419','Kugelberg-Welander disease'), +('83419','SMA type 3'), +('83419','SMA type III'), +('83419','SMA-III'), +('83419','SMA3'), +('83420','SMA type 4'), +('83420','SMA type IV'), +('83420','SMA-IV'), +('83420','SMA4'), +('83420','Spinal muscular atrophy, adult form'), +('83418','Chronic infantile spinal muscular atrophy'), +('83418','Chronic spinal muscular atrophy'), +('83418','Intermediate spinal muscular atrophy'), +('83418','SMA type 2'), +('83418','SMA type II'), +('83418','SMA-II'), +('83418','SMA2'), +('83313','Mediterranean spotted fever'), +('83469','DSRCT'), +('83468','Unicameral bone cyst'), +('83467','Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome'), +('83467','Morvan fibrillary chorea'), +('83465','Narcolepsy without cataplexy'), +('83476','West-Nile fever'), +('83473','MPPH syndrome'), +('83472','Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome'), +('83472','SCAR5'), +('83471','Nezelof syndrome'), +('83451','Florid osseous dysplasia'), +('83451','Focal cemento-osseous dysplasia'), +('83450','Ghost teeth'), +('83449','SIADH'), +('83454','Glomangiomatosis'), +('83454','Hereditary multiple glomangiomas'), +('83454','Multiple glomus tumors'), +('83454','VMGLOM'), +('83454','Venous malformations with glomus cells'), +('514352','Serpentine-like syndrome'), +('83618','Severe dilated cardiomyopathy with or without myopathy'), +('83620','Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells'), +('83628','Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome'), +('83628','PELVIS syndrome'), +('83628','Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome'), +('83628','SACRAL syndrome'), +('83601','Hashimoto encephalitis'), +('83601','SREAT'), +('83594','Eastern equine encephalomyelitis'), +('83595','American mountain fever'), +('83595','Colorado tick encephalitis'), +('83595','Colorado tick-borne disease'), +('83595','Mountain fever'), +('83595','Mountain tick fever'), +('83597','ADEM'), +('83597','Acute disseminated encephalitis'), +('83600','Von Economo encephalitis'), +('83483','Californian encephalitis'), +('83484','Saint Louis encephalitis'), +('83593','Western equine encephalomyelitis'), +('84085','HAS'), +('84085','HS'), +('84085','Hinman-Allen syndrome'), +('84085','Non-neurogenic neurogenic bladder'), +('84085','Occult neuropathic bladder'), +('84081','Boichis disease'), +('84081','Nephronophthisis-hepatic fibrosis syndrome'), +('84090','GFND'), +('84090','Glomerulopathy with fibronectin deposits'), +('84087','Collagenofibrotic glomerulopathy'), +('84064','Phenotypic diarrhea'), +('84064','SD/THE'), +('84064','Syndromic diarrhea/Tricho-hepato-enteric syndrome'), +('84064','Tricho-hepato-enteric syndrome'), +('84064','Trichohepatoenteric syndrome'), +('84065','Idiopathic bile acid malabsorption'), +('513436','SPG78'), +('83639','Congenital disorder of glycosylation due to PIGM deficiency'), +('83639','PIGM-CDG'), +('83629','H-SMD'), +('83629','Hypomyelination-spondylometaphyseal dysplasia syndrome'), +('83629','Leukoencephalopathy-metaphyseal chondrodysplasia syndrome'), +('513456','Skraban-Deardorff syndrome'), +('85164','CATSHL syndrome'), +('85164','Camptodactyly-tall stature-scoliosis-deafness syndrome'), +('85146','Kaeser syndrome'), +('85146','Stark-Kaeser syndrome'), +('85162','FOSMN syndrome'), +('85138','Autoimmune Addison disease'), +('85138','Autoimmune adrenalitis'), +('85138','Classic Addison disease'), +('85138','Primary Addison disease'), +('85142','APA'), +('85142','Aldosterone-secreting adenoma'), +('85142','Aldosteronoma'), +('85142','Conn adenoma'), +('85142','Primary aldosteronism due to Conn adenoma'), +('85128','Västerbotten dystrophy'), +('85136','CLWM'), +('85110','FENIB'), +('85112','Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome'), +('84271','Sporadic idiopathic nephrosis'), +('84132','Early-onset desmin-related myopathy'), +('84142','Acquired neuromyotonia'), +('84142','Continuous muscle fiber activity syndrome'), +('84142','Isaac-Mertens syndrome'), +('84142','Quantal squander syndrome'), +('85182','Bone dysplasia-medullary fibrosarcoma syndrome'), +('85182','Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome'), +('85182','Hardcastle syndrome'), +('85173','Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome'), +('85170','Mesomelic dysplasia with absent fibulas and triangular tibias'), +('85170','Triangular tibia-fibular aplasia syndrome'), +('85167','SMD-CRD'), +('85166','PLSD-T'), +('85166','Platyspondylic dysplasia, Torrance-Luton type'), +('85166','Platyspondylic lethal skeletal dysplasia, Torrance type'), +('85165','SADDAN'), +('98130','Autosomal duplication'), +('98156','Allosome number anomaly'), +('98157','Allosome structural anomaly'), +('98155','Allosome anomaly'), +('98142','Partial autosomal deletion'), +('98058','Rare urinary tract cancer'), +('98058','Rare urinary tract neoplasm'), +('98059','Rare digestive cancer'), +('98059','Rare digestive neoplasm'), +('98060','Rare respiratory cancer'), +('98060','Rare respiratory neoplasm'), +('98061','Rare ORL cancer'), +('98061','Rare ORL neoplasm'), +('98061','Rare ORL tumor'), +('98057','Rare neoplasm'), +('98062','Rare nervous system neoplasm'), +('98063','Rare gynaecological cancer'), +('98063','Rare gynaecological neoplasm'), +('98050','Rare allergy'), +('98052','Rare respiratory allergy'), +('98087','Syndrome with 46,XY DSD'), +('98085','46,XY DSD'), +('98078','46,XX DSD induced by androgens excess'), +('98261','PME'), +('98261','Progressive myoclonus epilepsy'), +('98274','MPD'), +('98274','MPN'), +('98274','Myeloproliferative disorder'), +('98277','AML with recurrent genetic anomaly'), +('98267','Monogenic obesity due to a leptin-melanocortin pathway anomaly'), +('98196','Dysmorphologic diseases with phakomatosis'), +('98203','Dystonia-plus syndrome'), +('97244','Rigid spine congenital muscular dystrophy'), +('97242','CMD'), +('97242','MDC'), +('97261','GRF tumor'), +('97261','Growth hormone releasing factor tumor'), +('97253','PNET'), +('97253','Pancreatic NET'), +('97253','Pancreatic neuroendocrine tumor'), +('97253','Well-differentiated NEN of pancreas'), +('97253','Well-differentiated neuroendocrine neoplasm of pancreas'), +('97253','Well-differentiated pancreatic NEN'), +('97253','Well-differentiated pancreatic neuroendocrine neoplasm'), +('97249','CLAM'), +('97249','Cerebellar atrophy with progressive microcephaly'), +('97249','PCH with optic atrophy'), +('97249','PCH without dyskinesia'), +('97249','PCH3'), +('97278','Pancreatic polypeptidoma'), +('97282','Diarrheogenic islet cell tumor'), +('97282','Pancreatic cholera'), +('97282','VIP-secreting tumor'), +('97282','Verner-Morrison syndrome'), +('97282','WDHA syndrome'), +('97282','Watery diarrhea-hypokalemia-achlorhydria syndrome'), +('97280','Glucagonoma syndrome'), +('97290','PTC-RCC'), +('97286','Carney dyad'), +('97286','Carney-Stratakis dyad'), +('97286','GIST-paraganglioma dyad'), +('97286','Paraganglioma and gastric stromal sarcoma'), +('97287','Bronchial NET'), +('97295','Marfanoid habitus-craniosynostosis syndrome'), +('97332','Aseptic necrosis of the lunate bone'), +('97332','Lunatomalacia'), +('97332','Osteochondrosis of the lunate bone'), +('97335','Aseptic necrosis of the tibial tubercle'), +('97335','Osteochondrosis of the tibial tubercle'), +('97297','BOS syndrome'), +('97297','Bohring syndrome'), +('97297','C-like syndrome'), +('97297','Oberklaid-Danks syndrome'), +('97297','Opitz trigonocephaly-like syndrome'), +('97330','TOS'), +('97330','Thoracic outlet compression syndrome'), +('97338','Clear cell sarcoma of the tendons and aponeuroses'), +('97339','Cranial dural arteriovenous fistula'), +('97339','Cranial dural arteriovenous malformations'), +('97336','Aseptic necrosis of the capital humerus'), +('97336','Osteochondrosis of the capital humerus'), +('97337','Aseptic necrosis of patella'), +('97337','Osteochondrosis of patella'), +('97342','Braak disease'), +('97346','Familial dementia, Danish type'), +('97345','Familial dementia, British type'), +('97354','Dementia due to thiamine deficiency'), +('97353','Boxer`s dementia'), +('97353','Chronic traumatic encephalopathy'), +('97353','Punch-drunk syndrome'), +('97360','Acral dysostosis with facial and genital abnormalities'), +('97360','Fetal face syndrome'), +('97360','Mesomelic dwarfism-small genitalia syndrome'), +('97360','Robinow dwarfism'), +('97360','Robinow-Silverman-Smith syndrome'), +('97355','Atypical parkinsonism in the Caribbean'), +('97363','Unilateral MCDK'), +('97363','Unilateral multicystic renal dysplasia'), +('97364','Bilateral MCDK'), +('97364','Bilateral multicystic renal dysplasia'), +('97365','Simple kidney cyst'), +('97366','Multilocular cyst of the kidney'), +('97366','Multilocular renal cyst'), +('97548','Isomerism of right atrial appendage'), +('97548','Ivemark syndrome'), +('97548','RAI'), +('97557','Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome'), +('97560','Idiopathic membranous glomerulonephritis'), +('97560','Primary membranous nephropathy'), +('96183','UPD(9)mat'), +('96182','UPD(7)mat'), +('96181','UPD(6)mat'), +('96180','UPD(4)mat'), +('96179','UPD(2)mat'), +('96178','Ring 16'), +('96178','Ring chromosome 16'), +('96177','Ring 15'), +('96177','Ring chromosome 15'), +('96176','Ring 13'), +('96176','Ring chromosome 13'), +('96191','UPD(6)pat'), +('96190','UPD(5)pat'), +('96188','UPD(22)mat'), +('96187','UPD(21)mat'), +('96186','Maternal UPD(20)'), +('96186','UPD(20)mat'), +('96185','UPD(16)mat'), +('96184','UPD(14)mat'), +('96194','Paternal UPD(20)'), +('96194','UPD(20)pat'), +('96195','UPD(21)pat'), +('96192','UPD(7)pat'), +('96193','Mosaic paternal uniparental disomy of chromosome 11'), +('96193','UPD(11)pat'), +('96256','Somatotropinoma'), +('96210','Rare genetic hearing loss'), +('96253','Corticotroph pituitary adenoma'), +('96253','Pituitary corticotroph micro-adenoma'), +('96253','Pituitary-dependent Cushing syndrome'), +('96269','Congenital absence of vagina'), +('96266','46,XY DSD due to partial LH receptor inactivation'), +('96266','46,XY DSD due to partial LH resistance'), +('96266','46,XY DSD due to partial luteinizing hormone resistance'), +('96266','46,XY disorder of sex developement due to partial LH receptor inactivation'), +('96266','46,XY disorder of sex developement due to partial LH resistance'), +('96266','46,XY disorder of sex developement due to partial luteinizing hormone resistance'), +('96266','Leydig cell hypoplasia due to partial LH receptor inactivation'), +('96266','Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation'), +('96266','Leydig cell hypoplasia due to partial luteinizing hormone resistance'), +('96265','46,XY DSD due to complete LH receptor inactivation'), +('96265','46,XY DSD due to complete LH resistance'), +('96265','46,XY DSD due to complete luteinizing hormone receptor inactivation'), +('96265','46,XY DSD due to complete luteinizing hormone resistance'), +('96265','46,XY disorder of sex development due to complete LH receptor inactivation'), +('96265','46,XY disorder of sex development due to complete LH resistance'), +('96265','46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation'), +('96265','46,XY disorder of sex development due to complete luteinizing hormone resistance'), +('96265','Leydig cell hypoplasia due to complete LH receptor inactivation'), +('96265','Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation'), +('96265','Leydig cell hypoplasia due to complete luteinizing hormone resistance'), +('96334','UPD(14)pat'), +('97234','GSD due to phosphoglycerate mutase deficiency'), +('97234','GSD type 10'), +('97234','Glycogenosis due to phosphoglycerate mutase deficiency'), +('97234','Muscle phosphoglycerate mutase deficiency'), +('97234','Myopathy due to phosphoglycerate mutase deficiency'), +('97229','Brown-Vialetto-van Laere syndrome'), +('97229','Sensorineural deafness-pontobulbar palsy syndrome'), +('97229','Sensorineural hearing loss-pontobulbar palsy syndrome'), +('97231','Conjunctivitis lignosa'), +('98006','Rare nervous system disease'), +('97678','UPD(13)mat'), +('97598','Congenital renovascular hypoplasia'), +('97567','Immunotactoid glomerulonephritis'), +('97564','Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis'), +('97564','Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody'), +('97566','Congo red-negative amyloidosis-like glomerulopathy'), +('97566','Non-amyloid fibrillary glomerulonephritis'), +('97563','Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody'), +('97685','Del(17)(q11)'), +('97685','Monosomy 17q11'), +('97685','NF1 microdeletion syndrome'), +('97685','Neurofibromatosis type 1 microdeletion syndrome'), +('95706','Perineal, scrotal or penoscrotal hypospadias'), +('95702','X-linked congenital adrenal hypoplasia'), +('95716','Thyroid dyshormonogenesis'), +('95711','Primary congenital hypothyroidism due to developmental anomaly'), +('95613','Pituitary tumor apoplexy'), +('95700','Familial adrenal hypoplasia with absent pituitary LH'), +('95700','Familial adrenal hypoplasia, miniature type'), +('95699','Congenital adrenal hyperplasia due to cytochrome POR deficiency'), +('95699','POR deficiency'), +('95699','PORD'), +('95698','NCAH'), +('95626','Acquired CDI'), +('95626','Acquired neurogenic diabetes insipidus'), +('95506','Autoimmune hypophysitis'), +('95512','Anterior pituitary hypophysitis'), +('95513','Infundibulo-panhypophysitis'), +('95510','Atrial auricle anomaly'), +('95491','Congenital coronary aneurysm'), +('95485','Patent ductus arteriosus anomalies'), +('95487','Atypical patent ductus arteriosus'), +('95486','Premature closure of the patent ductus arteriosus'), +('95496','Ectopic neurohypophysis'), +('95496','PSIS'), +('95499','Congenital anomaly of the IVC'), +('95499','Congenital anomaly of the inferior caval vein'), +('95498','Congenital anomaly of superior caval vein'), +('95498','Congenital anomaly of the SVC'), +('95494','Familial congenital hypopituitarism'), +('95494','Multiple pituitary hormone deficiencies, genetic forms'), +('95443','Midline heart'), +('95433','Autosomal recessive spinocerebellar ataxia type 3'), +('95433','Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome'), +('95433','SCABD'), +('95433','SCAR3'), +('95434','SCAR4'), +('95434','SCASI'), +('95457','Congenital unguarded tricuspid orifice'), +('95455','SJS-TEN'), +('95455','Toxic epidermolysis'), +('95232','PAFAH1B1-related lissencephaly'), +('95159','HEP'), +('95428','CDG syndrome type IIh'), +('95428','CDG-IIh'), +('95428','CDG2H'), +('95428','Carbohydrate deficient glycoprotein syndrome type IIh'), +('95428','Congenital disorder of glycosylation type 2h'), +('95428','Congenital disorder of glycosylation type IIh'), +('95409','Acute adrenal failure'), +('95409','Acute adrenocortical insufficiency'), +('95409','Addisonian crisis'), +('95409','Adrenal crisis'), +('95409','Adrenocortical crisis'), +('95432','Mesulam syndrome'), +('95432','PPA'), +('95431','Feto-fetal transfusion syndrome'), +('95430','Congenital major airway collapse'), +('94095','Casamassima-Morton-Nance syndrome'), +('94122','Cayman ataxia'), +('94124','SCAN1'), +('94125','MIRAS'), +('94145','ADCA1'), +('94145','ADCAI'), +('94145','Autosomal dominant cerebellar ataxia type 1'), +('94145','Cerebellar plus syndrome'), +('94147','Ataxia with pigmentary retinopathy'), +('94147','Cerebellar syndrome-pigmentary maculopathy syndrome'), +('94147','SCA7'), +('94148','ADCA3'), +('94148','ADCAIII'), +('94148','Autosomal dominant cerebellar ataxia type 3'), +('94148','Pure cerebellar syndrome-mild pyramidal signs syndrome'), +('94149','ADCA4'), +('94149','ADCAIV'), +('94149','Autosomal dominant cerebellar ataxia type 4'), +('94064','DIS'), +('94064','Hearing loss-infertility syndrome'), +('94063','Del(12)(q14)'), +('94063','Deletion 12q14'), +('94063','Monosomy 12q14'), +('94063','Osteopoikilosis-short stature-intellectual disability syndrome'), +('94065','Del(15)(q24)'), +('94065','Monosomy 15q24'), +('94068','Congenital spondyloepiphyseal dysplasia'), +('94068','SEDC'), +('94068','Spranger-Wiedemann disease'), +('94075','Autoimmune enteropathy'), +('94075','Immune-mediated protracted diarrhea of infancy'), +('94083','Partington-Mulley syndrome'), +('94083','X-linked intellectual disability-dystonia-dysarthria syndrome'), +('94080','Non-secreting paraganglioma'), +('94086','Drummond syndrome'), +('94086','Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome'), +('94084','Fryns-Aftimos syndrome'), +('94087','CHP'), +('94087','Winkelmann cytophagic panniculitis'), +('96175','RC11'), +('96175','Ring 11'), +('96175','Ring chromosome 11'), +('96175','r(11) syndrome'), +('96173','Ring 9'), +('96173','Ring chromosome 9'), +('96172','Ring 3'), +('96172','Ring chromosome 3'), +('96171','Ring 2'), +('96171','Ring chromosome 2'), +('96170','Der(22)t(11;22) syndrome'), +('96170','Supernumerary der(22) syndrome'), +('96169','KdVS'), +('96168','Del(13)(q34)'), +('96168','Distal deletion 13q34'), +('96168','Subtelomeric deletion 13q34'), +('96167','Duplication 8q/deletion 8p'), +('96167','Rec(8) syndrome'), +('96167','Rec8 syndrome'), +('96167','Recombinant chromosome 8 syndrome'), +('96167','San Luis Valley syndrome'), +('96164','Non-distal deletion 20q'), +('96164','Non-telomeric monosomy 20q'), +('96160','Non-distal deletion 12q'), +('96160','Non-telomeric monosomy 12q'), +('96152','Distal deletion 20q'), +('96152','Monosomy 20qter'), +('96152','Telomeric deletion 20q'), +('96150','Distal deletion 14q'), +('96150','Telomeric deletion 14q'), +('96148','Distal deletion 10q'), +('96148','Monosomy 10qter'), +('96148','Telomeric deletion 10q'), +('96149','Distal deletion 12q'), +('96149','Monosomy 12qter'), +('96149','Telomeric deletion 12q'), +('96147','9q subtelomeric deletion syndrome'), +('96147','9qSTDS'), +('96147','Kleefstra syndrome due to 9q subtelomeric deletion'), +('96147','Kleefstra syndrome due to del(9)(q34)'), +('96147','Kleefstra syndrome due to monosomy 9q34'), +('96145','Distal deletion 4q'), +('96145','Monosomy 4qter'), +('96145','Telomeric deletion 4q'), +('96136','Non-distal deletion 7p'), +('96136','Non-telomeric monosomy 7p'), +('96129','Distal deletion 19p'), +('96129','Telomeric deletion 19p'), +('96125','6p subtelomeric deletion syndrome'), +('96125','6p25 microdeletion syndrome'), +('96125','Distal deletion 6p'), +('96125','Monosomy 6p25'), +('96126','Distal deletion 7p'), +('96126','Monosomy 7pter'), +('96126','Telomeric deletion 7p'), +('96121','Dup(7)(q11.23)'), +('96121','Trisomy 7q11.23'), +('96123','Del(22)'), +('96123','Deletion 22'), +('96112','Non-distal duplication 9q'), +('96112','Non-telomeric trisomy 9q'), +('96107','Distal duplication 20q'), +('96107','Telomeric duplication 20q'), +('96107','Trisomy 20qter'), +('96106','Distal duplication 16q'), +('96106','Telomeric duplication 16q'), +('96106','Trisomy 16qter'), +('96105','Distal duplication 13q'), +('96105','Telomeric duplication 13q'), +('96105','Trisomy 13qter'), +('96109','Distal duplication 22q'), +('96109','Telomeric duplication 22q'), +('96109','Trisomy 22qter'), +('96098','Distal duplication 6q'), +('96098','Telomeric duplication 6q'), +('96098','Trisomy 6qter'), +('96097','Distal duplication 5q'), +('96097','Telomeric duplication 5q'), +('96097','Trisomy 5qter'), +('96096','Distal duplication 4q'), +('96096','Telomeric duplication 4q'), +('96096','Trisomy 4qter'), +('96103','Distal duplication 11q'), +('96103','Telomeric duplication 11q'), +('96103','Trisomy 11qter'), +('96102','Distal duplication 10q'), +('96102','Telomeric duplication 10q'), +('96102','Trisomy 10qter'), +('96101','Distal duplication 9q'), +('96101','Telomeric duplication 9q'), +('96101','Trisomy 9qter'), +('96100','Distal duplication 8q'), +('96100','Telomeric duplication 8q'), +('96100','Trisomy 8qter'), +('96094','Distal duplication 2q'), +('96094','Telomeric duplication 2q'), +('96094','Trisomy 2qter'), +('96095','Dup(3)(q26)'), +('96095','Dup(3q) syndrome'), +('96095','Trisomy 3q26'), +('96092','Invdupdel(8p)'), +('96092','Inverted 8p duplication/deletion syndrome'), +('96072','Distal duplication 4p'), +('96072','Distal trisomy 4p'), +('96072','Telomeric duplication 4p'), +('96072','Trisomy 4pter'), +('96074','Distal duplication 7p'), +('96074','Telomeric duplication 7p'), +('96074','Trisomy 7pter'), +('96078','Distal duplication 16p'), +('96078','Distal trisomy 16p'), +('96078','Dup(16)(p13.3)'), +('96078','Telomeric duplication 16p'), +('96078','Trisomy 16pter'), +('96069','Distal duplication 1p36'), +('96069','Telomeric duplication 1p36'), +('96069','Trisomy 1pter'), +('96068','Mosaic trisomy chromosome 22'), +('96068','Trisomy 22 mosaicism'), +('96071','Distal duplication 3p'), +('96071','Telomeric duplication 3p'), +('96071','Trisomy 3pter'), +('96070','Distal duplication 2p'), +('96070','Telomeric duplication 2p'), +('96070','Trisomy 2pter'), +('96059','Mosaic trisomy chromosome 4'), +('96059','Trisomy 4 mosaicism'), +('96060','Mosaic trisomy chromosome 5'), +('96060','Trisomy 5 mosaicism'), +('96061','Mosaic trisomy chromosome 8'), +('96061','Trisomy 8 mosaicism'), +('96061','Warkany syndrome'), +('96063','Mosaic trisomy chromosome 10'), +('96063','Trisomy 10 mosaicism'), +('95854','Isolated levocardia'), +('95854','Levocardia with situs inversus'), +('96055','Isochromosome 21'), +('93545','CAKUT'), +('93545','Congenital anomalies of kidney and urinary tract'), +('93555','MC type III'), +('93554','MC type II'), +('93557','LHCDD'), +('93556','HCDD'), +('93552','SLE, pediatric onset'), +('93562','Familial amyloid nephropathy due to fibrinogen A alpha-chain variant'), +('93562','Fibrinogen A alpha-chain amyloidosis'), +('93562','Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant'), +('93562','Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant'), +('93564','PAN, pediatric onset'), +('93558','LCDD'), +('93560','Apolipoprotein A-I amyloidosis'), +('93560','Familial amyloid nephropathy due to apolipoprotein A-I variant'), +('93560','Familial renal amyloidosis due to apolipoprotein A-I variant'), +('93560','Hereditary amyloid nephropathy due to apolipoprotein A-I variant'), +('93560','Hereditary renal amyloidosis due to apolipoprotein A-I variant'), +('93561','Familial amyloid nephropathy due to lysozyme variant'), +('93561','Familial renal amyloidosis due to lysozyme variant'), +('93561','Hereditary amyloid nephropathy due to lysozyme variant'), +('93561','Hereditary renal amyloidosis due to lysozyme variant'), +('93561','Lysozyme amyloidosis'), +('93571','Membranoproliferative glomerulonephritis type 2'), +('93567','Pediatric systemic scleroderma'), +('93568','Juvenile PM'), +('93569','Rhizomelic pseudopolyarthritis'), +('93448','Dysostosis multiplex'), +('93447','Primary osteodysplasia with defective bone mineralization'), +('93447','Primary skeletal dysplasia with defective bone mineralization'), +('93446','Primary osteodysplasia with decreased bone density'), +('93446','Primary skeletal dysplasia with decreased bone density'), +('93444','Primary osteodysplasia with increased bone density'), +('93444','Primary skeletal dysplasia with increased bone density'), +('93444','Sclerosing bone dysplasia'), +('93442','CDP'), +('93441','Primary osteodysplasia with multiple joint dislocations'), +('93441','Primary skeletal dysplasia with multiple joint dislocations'), +('93456','Brachydactyly with or without extraskeletal manifestations'), +('93450','Primary osteodysplasia with disorganized development of skeletal components'), +('93450','Primary skeletal dysplasia with disorganized development of skeletal components'), +('93457','Non-syndromic limb hypoplasia'), +('93474','MPS1S'), +('93474','MPSIS'), +('93474','Mucopolysaccharidosis type 1S'), +('93474','Mucopolysaccharidosis type IS'), +('93476','MPS1H/S'), +('93476','MPSIH/S'), +('93476','Mucopolysaccharidosis type 1H/S'), +('93476','Mucopolysaccharidosis type IH/S'), +('93473','Hurler disease'), +('93473','MPS1H'), +('93473','MPSIH'), +('93473','Mucopolysaccharidosis type 1H'), +('93473','Mucopolysaccharidosis type IH'), +('93403','Synpolydactyly'), +('93405','Polysyndactyly, Haas type'), +('93404','SD3'), +('93404','Syndactyly of fingers 4 and 5'), +('93406','Postaxial syndactyly with metacarpal synostosis'), +('93406','SD5'), +('93425','Bone filaminopathy'), +('93426','SRP'), +('93426','Short rib dysplasia'), +('93439','Bent bone dysplasia'), +('93360','SEMD-MD'), +('93360','SEMDJL2'), +('93360','Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type'), +('93360','Spondyloepimetaphyseal dysplasia with joint laxity type 2'), +('93360','Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type'), +('93360','Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type'), +('93359','SEMD-JL'), +('93359','SEMDJL1'), +('93359','Spondyloepimetaphyseal dysplasia with joint laxity type 1'), +('93359','Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type'), +('93357','Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia'), +('93357','Spondyloepimetaphyseal dysplasia, Sponastrime type'), +('93372','FHH type 1'), +('93382','Osebold-Remondini syndrome'), +('93388','Brachydactyly, Farabee type'), +('93385','BDD'), +('93393','Brachydactyly-clinodactyly'), +('93393','Brachymesophalangy V'), +('93396','Brachydactyly, Mohr-Wriedt type'), +('93397','Brachydactyly, Smorgasbord type'), +('93394','Brachydactyly, Temtamy type'), +('93394','Brachymesophalangy II and V'), +('93395','Brachydactyly, combined B and E types'), +('93395','Pitt-Williams brachydactyly'), +('93963','Adult-onset focal torsion dystonia'), +('93963','Adult-onset idiopathic torsion dystonia'), +('93963','DYT7'), +('93964','Meige dystonia'), +('93964','Meige syndrome'), +('93961','Laryngeal dystonia'), +('93961','Spasmodic dysphonia'), +('93955','Primary blepharospasm'), +('94056','Humero-ulnar fusion'), +('93971','Chudley-Lowry syndrome'), +('93932','Opitz-Kaveggia syndrome'), +('93930','Classic exstrophy of the bladder'), +('93929','OEIS complex'), +('93929','Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome'), +('93926','MIH'), +('93926','MIH type HPE'), +('93926','MIHF'), +('93926','MIHV'), +('93926','Middle interhemispheric fusion variant'), +('93926','Middle interhemispheric variant of holoprosencephaly'), +('93926','Syntelencephaly'), +('93921','NF3'), +('93921','Neurilemmomatosis'), +('93921','Neurofibromatosis type 3'), +('93952','MRXSH'), +('93941','LTEC IV'), +('93941','LTEC4'), +('93941','Laryngo-tracheo-esophageal cleft type 4'), +('93940','LTEC III'), +('93940','LTEC3'), +('93940','Laryngo-tracheo-esophageal cleft type 3'), +('93939','LTEC II'), +('93939','LTEC2'), +('93939','Laryngo-tracheo-esophageal cleft type 2'), +('93938','LTEC I'), +('93938','LTEC1'), +('93938','Laryngo-tracheo-esophageal cleft type 1'), +('93937','Congenital limb amputation'), +('93668','Adult CRMO'), +('93616','Alpha-thalassemia intermedia'), +('93616','HbH disease'), +('93622','Nephrolithiasis type 1'), +('93623','Nephrolithiasis type 2'), +('93672','Juvenile DM'), +('93686','MCD'), +('93686','Multicentric giant lymph node hyperplasia'), +('93685','Localized Castleman disease'), +('93890','Malformation syndrome'), +('93591','Autosomal recessive infantile NPHP'), +('93591','Autosomal recessive infantile nephronophthisis'), +('93598','Glycolic aciduria'), +('93598','Peroxisomal alanine-glyoxylate aminotransferase deficiency'), +('93578','Atypical HUS with B factor anomaly'), +('93578','D- HUS with B factor anomaly'), +('93578','Hemolytic uremic syndrome without diarrhea with B factor anomaly'), +('93578','aHUS with B factor anomaly'), +('93579','Atypical HUS with H factor anomaly'), +('93579','D- HUS with H factor anomaly'), +('93579','Hemolytic uremic syndrome without diarrhea with H factor anomaly'), +('93579','aHUS with H factor anomaly'), +('93575','Atypical HUS with C3 anomaly'), +('93575','D- HUS with C3 anomaly'), +('93575','Hemolytic uremic syndrome without diarrhea with C3 anomaly'), +('93575','aHUS with C3 anomaly'), +('93576','Atypical HUS with MCP/CD46 anomaly'), +('93576','D- HUS with MCP/CD46 anomaly'), +('93576','Hemolytic uremic syndrome without diarrhea with MCP/CD46 anomaly'), +('93576','aHUS with MCP/CD46 anomaly'), +('93583','Congenital ADAMTS-13 deficiency'), +('93583','Congenital TTP'), +('93583','Familial TTP'), +('93583','Upshaw-Schulman syndrome'), +('93585','Acquired TTP'), +('93585','Autoimmune thrombotic thrombocytopenic purpura'), +('93585','Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies'), +('93580','Atypical HUS with I factor anomaly'), +('93580','D- HUS with I factor anomaly'), +('93580','Hemolytic uremic syndrome without diarrhea with I factor anomaly'), +('93580','Partial factor I deficiency'), +('93580','aHUS with I factor anomaly'), +('93581','Atypical HUS with anti-factor H antibodies'), +('93581','aHUS with anti-factor H antibodies'), +('93581','aHUS with neutralizing autoantibodies against factor H'), +('93610','dRTA with anemia'), +('93609','AR dRTA without deafness'), +('93609','AR dRTA without hearing loss'), +('93609','Autosomal recessive distal renal tubular acidosis without hearing loss'), +('93609','Distal renal tubular acidosis type 1c'), +('93609','dRTA type 1c'), +('93608','AD dRTA'), +('93607','AR pRTA'), +('93607','Proximal renal tubular acidosis with ocular abnormalities and intellectual disability'), +('93611','AR dRTA with deafness'), +('93611','AR dRTA with hearing loss'), +('93611','Autosomal recessive distal RTA with deafness'), +('93611','Autosomal recessive distal renal tubular acidosis with hearing loss'), +('93611','Distal renal tubular acidosis type 1b'), +('93611','dRTA type 1b'), +('93602','XDH and AOX dual deficiency'), +('93602','Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency'), +('93601','XDH deficiency'), +('93601','XO deficiency'), +('93601','XOR deficiency'), +('93601','Xanthine dehydrogenase deficiency'), +('93601','Xanthine oxidase deficiency'), +('93601','Xanthine oxidoreductase deficiency'), +('93599','D-glycerate dehydrogenase deficiency'), +('93599','L-glyceric aciduria'), +('93606','NSIAD'), +('93605','Adult Bartter syndrome'), +('93605','Bartter syndrome type 3'), +('93605','Bartter syndrome type III'), +('93604','Bartter syndrome, furosemide type'), +('93604','Bartter syndrome, furosemide-amiloride type'), +('93604','Hyperprostaglandin E syndrome'), +('99094','VSD with aortic insufficiency'), +('99094','Ventricular septal defect with aortic insufficiency'), +('99087','COSA'), +('99087','Congenital coronary arterial orifice stenosis or atresia'), +('99087','Congenital stenosis or atresia of a coronary ostium'), +('99083','PAH'), +('99083','Unilateral Pulmonary Artery Hypoplasia'), +('99084','Branch pulmonary artery stenosis'), +('99084','Pulmonary branch stenosis'), +('99068','CAVC-tetralogy of Fallot'), +('99068','Complete AVSD-tetralogy of Fallot'), +('99068','Complete atrioventricular canal defect-tetralogy of Fallot'), +('99067','CAVC with ventricular hypoplasia'), +('99067','Complete AVSD with ventricular hypoplasia'), +('99067','Complete atrioventricular canal defect with ventricular hypoplasia'), +('99067','Complete atrioventricular septal defect with ventricular imbalance'), +('99067','Unbalanced complete atrioventricular canal'), +('99066','CAVC-left heart obstruction syndrome'), +('99123','IVC interruption'), +('99123','Inferior caval vein interruption'), +('99121','Azygos continuation of the IVC'), +('99121','Azygos continuation of the inferior caval vein'), +('99121','Inferior vena cava interruption with azygos continuation'), +('99122','Congenital stenosis of the IVC'), +('99122','Congenital stenosis of the inferior caval vein'), +('99119','Right IVC connecting to left-sided atrium'), +('99119','Right inferior caval vein connecting to left-sided atrium'), +('99113','Subaortic course of brachiocephalic vein'), +('99114','Absence of the SVC'), +('99114','Absence of the superior caval vein'), +('99114','Absence of the superior vena cava'), +('99114','Agenesis of the SVC'), +('99114','Agenesis of the superior caval vein'), +('99111','Persistent left SVC connecting to left-sided atrium'), +('99111','Persistent left SVC connecting to the roof of left-sided atrium'), +('99111','Persistent left superior vena cava connecting to left-sided atrium'), +('99112','Absence of brachiocephalic vein'), +('99110','Right SVC connecting to left-sided atrium'), +('99110','Right superior caval vein connecting to left-sided atrium'), +('99109','Persistent left SVC connecting through coronary sinus to left-sided atrium'), +('99106','ASD, ostium primum type'), +('99105','ASD, sinus venosus type'), +('99104','ASD, coronary sinus type'), +('99104','Unroofed coronary sinus'), +('99103','ASD, ostium secundum type'), +('99102','Dilatation of the left atrial appendage'), +('99102','Dilatation of the left auricle'), +('99102','Ectasia of the left auricle'), +('99101','Dilatation of the right atrial appendage'), +('99101','Dilatation of the right atrial auricle'), +('99101','Ectasia of the right atrial auricle'), +('99100','Juxtaposition of the atrial auricles'), +('99099','Cor triatriatum sinistrum'), +('99099','Divided left atrium'), +('99098','Cor triatriatum dextrum'), +('99098','Divided right atrium'), +('99095','Left ventricular-to-right atrial communication'), +('99147','Acquired von Willebrand disease'), +('99324','UPD(13)pat'), +('99361','Familial MTC'), +('99657','DYT2'), +('99654','FCPD'), +('99654','Fibrocalculous pancreatic diabetes'), +('99654','Tropical pancreatic diabetes'), +('99429','CAIS'), +('99429','Complete androgen resistance syndrome'), +('99647','Generalized enchondromatosis with platyspondyly'), +('99715','Mitral valve-aorta-skeleton-skin syndrome'), +('99718','LHON plus disease'), +('99725','Hypophyseal gigantism'), +('99725','Infantile and juvenile forms of acromegaly'), +('99701','MTLE-HS'), +('99750','Atypical PSP syndrome'), +('99749','Infantile agranulocytosis'), +('99749','Severe congenital neutropenia type 3'), +('99734','Exercise-induced delayed-onset myotonia'), +('99734','Fluctuating myotonia'), +('99731','ISOD'), +('99731','Sulfocysteinuria'), +('99732','Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase'), +('99732','MOCOD'), +('99736','ACZ-responsive congenital myotonia'), +('99736','ACZ-responsive myotonia'), +('99736','Acetazolamide-responsive congenital myotonia'), +('99736','Myotonia-painful contractions syndrome'), +('99736','Painful congenital myotonia'), +('99736','Painful myotonia'), +('99741','Koussef-Nichols syndrome'), +('99739','Rare familial disorder with hypertrophic obstructive cardiomyopathy'), +('99739','Rare familial disorder with hypertrophic subaortic stenosis'), +('99745','Typhoid fever'), +('99745','Typhoidal salmonellosis'), +('98820','FFEVF'), +('98820','Familial partial epilepsy with variable foci'), +('98818','Acquired epileptic aphasia'), +('98818','LKS'), +('98816','Late-onset benign childhood occipital epilepsy'), +('98815','Early-onset benign childhood occipital epilepsy'), +('98815','Panayiotopoulos syndrome'), +('98813','Anhidrotic ectodermal dysplasia with immunodeficiency'), +('98813','EDA-ID'), +('98813','HED-ID'), +('98812','Nocturnal paroxysmal dystonia'), +('98812','Paroxysmal hypnagogic dyskinesia'), +('98812','Paroxysmal hypnagogic dystonia'), +('98812','Paroxysmal nocturnal dyskinesia'), +('98811','DYT18'), +('98811','Dystonia 18'), +('98811','PED'), +('98810','Paroxystic non-kinesigenic choreoathetosis'), +('98809','Familial PKD'), +('98809','Familial paroxysmal kinesigenic dyskinesia'), +('98809','Paroxysmal kinesigenic choreathetosis'), +('98808','Autosomal dominant Segawa syndrome'), +('98808','DYT5a'), +('98808','GTPCH1-deficient DRD'), +('98808','GTPCH1-deficient dopa-responsive dystonia'), +('98808','HPD with marked diurnal fluctuation'), +('98808','Hereditary progressive dystonia with marked diurnal fluctuation'), +('98807','DYT13'), +('98807','Primary dystonia with mixed phenotype'), +('98807','Primary torsion dystonia with predominant craniocervical or upper limb onset'), +('98838','Large cell lymphoma of the mediastinum'), +('98838','Med-DLBCL'), +('98838','Mediastinal diffuse large-cell lymphoma with sclerosis'), +('98838','Primary mediastinal clear cell lymphoma of B-cell type'), +('98835','Acute myeloid leukemia, minimal differentiation, FAB M0'), +('98833','AML M1'), +('98833','Acute myeloblastic leukemia M1'), +('98834','AML M2'), +('98834','Acute myeloblastic leukemia M2'), +('98831','AML with 11q23 abnormalities'), +('98832','AML M0'), +('98832','Minimally differentiated acute myeloblastic leukemia'), +('98829','AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)'), +('98825','Unclassified mixed myelodysplastic/myeloproliferatic syndrome'), +('98823','CMML'), +('98824','Subacute myeloid leukemia'), +('98853','EDMD2'), +('98849','SM-AHN'), +('98849','SM-AHNMD'), +('98849','Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease'), +('98839','Angioendotheliomatosis proliferans systemisata'), +('98839','Angiotropic large cell lymphoma'), +('98839','Intravascular lymphomatosis'), +('98839','Malignant angioendotheliomatosis'), +('98839','Tappeiner-Pfleger disease'), +('98842','LyP'), +('98841','ALCL'), +('98841','CD30 positive anaplastic large cell lymphoma'), +('98841','Ki-1 positive anaplastic large cell lymphoma'), +('98841','Primary systemic ALCL'), +('98841','sACL'), +('98868','Hereditary ovalocytosis'), +('98868','Melanesian elliptocytosis'), +('98868','Melanesian ovalocytosis'), +('98868','SAO'), +('98868','Stomatocytic elliptocytosis'), +('98869','CDA I'), +('98869','CDA type 1'), +('98869','CDA type I'), +('98869','Congenital dyserythropoietic anemia type 1'), +('98870','CDA III'), +('98870','CDA type 3'), +('98870','CDA type III'), +('98870','Congenital dyserythropoietic anemia type 3'), +('98861','Dextrocardia-bronchiectasis-sinusitis syndrome'), +('98861','Immotile cilia syndrome, Kartagener type'), +('98861','Kartagener syndrome'), +('98861','Siewert syndrome'), +('98855','EDMD3'), +('98856','AR-CMT2B1'), +('98856','Autosomal recessive Charcot-Marie-Tooth disease type 2B1'), +('98856','Autosomal recessive axonal CMT4C1'), +('98879','Christmas disease'), +('98879','Factor IX deficiency'), +('98873','CDA II'), +('98873','CDA type 2'), +('98873','CDA type II'), +('98873','Congenital dyserythropoietic anemia type 2'), +('98873','Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)'), +('98873','SEC23B-CDG'), +('98871','Transient acquired pure red cell aplasia'), +('98878','FVIII deficiency'), +('98878','Factor VIII deficiency'), +('98897','OPDM'), +('98897','Oculopharyngeal distal myopathy'), +('98895','BMD'), +('98895','Becker dystrophinopathy'), +('98896','DMD'), +('98896','Severe dystrophinopathy, Duchenne type'), +('98890','Non-Leber type optic atrophy with early-onset'), +('98890','OPA2'), +('98890','Optic atrophy type 2'), +('98888','Complex X-linked HSP'), +('98888','Complex X-linked SPG'), +('98888','Complicated X-linked HSP'), +('98888','Complicated X-linked SPG'), +('98888','X-linked complicated spastic paraplegia'), +('98893','CMD1B'), +('98893','MDC1B'), +('98894','MDC1D'), +('98892','PVNH'), +('98912','ZASP-related myofibrillar myopathy'), +('98916','AIDP'), +('98916','Acute idiopathic demyelinating polyneuropathy'), +('98916','Acute inflammatory polyneuropathy'), +('98916','GBS, acute inflammatory demyelinating polyradiculoneuropathic form'), +('98916','Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form'), +('98918','AMAN'), +('98918','Acute pure motor GBS'), +('98918','Acute pure motor Guillain-Barré syndrome'), +('98917','AMSAN'), +('98917','Acute motor-sensory axonal GBS'), +('98917','Acute motor-sensory axonal Guillain-Barré syndrome'), +('98904','Actin myopathy'), +('98908','NLSDM'), +('98908','Neutral lipid storage disease with myopathy without ichthyosis'), +('98907','Dorfman-Chanarin disease'), +('98907','NLSDI'), +('98910','CRYAB-related myofobrillar myopathy'), +('98909','Desmin-related myofibrillar myopathy'), +('98932','MSA-urinary dysfunction syndrome'), +('98932','Multiple system atrophy-urinary dysfunction syndrome'), +('98933','MSA, parkinsonian type'), +('98933','MSA-p'), +('98934','HDL2'), +('98919','Cranial variant of GBS'), +('98919','Cranial variant of Guillain-Barré syndrome'), +('98919','Fisher syndrome'), +('98920','Autosomal recessive distal spinal muscular atrophy type 1'), +('98920','Autosomal recessive spinal muscular atrophy with respiratory distress'), +('98920','Diaphragmatic spinal muscular atrophy'), +('98920','Distal hereditary motor neuropathy type 6'), +('98920','Distal-HMN type 6'), +('98920','SIANRF'), +('98920','SMARD1'), +('98920','Severe infantile axonal neuropathy with respiratory failure type 1'), +('98920','dHMN6'), +('98920','dSMA1'), +('98938','MAC'), +('98938','Microphthalmia with colobomatous cyst'), +('98938','Microphthalmia-anophthalmia-coloboma syndrome'), +('98947','Coloboma of optic papilla'), +('98958','Honey-droplet corneal dystrophy'), +('98957','GDCD'), +('98957','Primary familial amyloidosis of the cornea'), +('98957','Subepithelial amyloidosis of the cornea'), +('98956','Anterior basement membrane dystrophy'), +('98956','Cogan microcystic epithelial dystrophy'), +('98956','EBMD'), +('98956','Map-dot-fingerprint dystrophy'), +('98955','Band-shaped and whorled microcystic dystrophy of the corneal epithelium'), +('98955','LECD'), +('98954','Juvenile hereditary epithelial dystrophy of Meesmann'), +('98954','MECD'), +('98964','Biber-Haab-Dimmer dystrophy'), +('98964','Classic lattice corneal dystrophy'), +('98964','LCD1'), +('98964','LCDI'), +('98964','Lattice corneal dystrophy type 1'), +('98963','Avellino corneal dystrophy'), +('98963','GCD2'), +('98963','GCDII'), +('98963','Granular corneal dystrophy type 2'), +('98963','Granular-lattice corneal dystrophy'), +('98962','Classic GCD'), +('98962','Classic granular corneal dystrophy'), +('98962','Corneal dystrophy Groenouw type I'), +('98962','GCD1'), +('98962','GCDI'), +('98962','Granular corneal dystrophy type 1'), +('98961','Anterior limiting membrane dystrophy type 1'), +('98961','Anterior limiting membrane dystrophy type I'), +('98961','Atypical granular corneal dystrophy'), +('98961','Corneal dystrophy of Bowman layer type 1'), +('98961','Corneal dystrophy of Bowman layer type I'), +('98961','Geographic corneal dystrophy'), +('98961','Granular corneal dystrophy type 3'), +('98961','Granular corneal dystrophy type III'), +('98961','RBCD'), +('98961','Superficial granular corneal dystrophy'), +('98960','Anterior limiting membrane dystrophy type 2'), +('98960','Anterior limiting membrane dystrophy type II'), +('98960','Corneal dystrophy of Bowman layer type 2'), +('98960','Corneal dystrophy of Bowman layer type II'), +('98960','Curly fiber corneal dystrophy'), +('98960','Honeycomb corneal dystrophy'), +('98960','TBCD'), +('98960','Waardenburg-Jonker corneal dystrophy'), +('98959','SMCD'), +('98971','PACD'), +('98971','Posterior amorphous stromal dystrophy'), +('98972','CCDF'), +('98972','Central cloudy corneal dystrophy of François'), +('98973','PPCD'), +('98973','Posterior polymorphous dystrophy'), +('98973','Schlichting dystrophy'), +('98974','Endoepithelial corneal dystrophy'), +('98974','FECD'), +('98974','Late hereditary endothelial dystrophy'), +('98967','Crystalline stromal dystrophy'), +('98967','Hereditary crystalline stromal dystrophy of Schnyder'), +('98967','SCCD'), +('98967','SCD'), +('98967','Schnyder crystalline corneal dystrophy'), +('98967','Schnyder crystalline dystrophy sine crystals'), +('98969','Corneal dystrophy Groenouw type II'), +('98969','Fehr corneal dystrophy'), +('98969','MCD'), +('98970','FCD'), +('98970','François-Neetens speckled corneal dystrophy'), +('98975','Autosomal dominant CHED'), +('98975','Autosomal dominant congenital hereditary endothelial dystrophy'), +('98975','CHED1'), +('98975','CHEDI'), +('98975','Congenital hereditary endothelial dystrophy type 1'), +('98976','Buphthalmia'), +('98976','Buphthalmos'), +('98976','Buphthalmus'), +('98976','Primary congenital glaucoma'), +('98988','Early-onset anterior subcapsular cataract'), +('98989','Blue-dot cataract'), +('98984','Coppock-like cataract'), +('98984','Dusty cataract'), +('98985','Early-onset cataract with Y-shaped suture opacities'), +('99001','Butterfly-shaped pattern dystrophy'), +('99001','Butterfly-shaped pigmentary macular dystrophy'), +('99000','AOFMD'), +('99000','AVMD'), +('99000','Adult-onset foveomacular dystrophy'), +('99000','Adult-onset foveomacular dystrophy with choroidal neovascularization'), +('99000','Adult-onset vitelliform macular dystrophy'), +('99000','Gass disease'), +('99000','Pseudo-Best disease'), +('99000','Pseudo-vitelliform macular dystrophy'), +('99003','Multifocal pattern dystrophy simulating Stargardt disease'), +('99013','SPG7'), +('99014','CMT5X'), +('99014','CMTX5'), +('99015','SPG2'), +('99015','Spastic gait type 2'), +('99015','Spastic paraparesis type 2'), +('99015','X-linked spastic paraplegia type 2'), +('99027','ADLD'), +('99027','Adult-onset autosomal dominant demyelinating leukodystrophy'), +('99042','Congenitally uncorrected transposition of the great vessels with coarctation'), +('99042','TGA with coarctation'), +('99043','DORV with subaortic or doubly committed VSD with pulmonary stenosis'), +('99043','DORV, Fallot type'), +('99043','Double outlet right ventricle, Fallot type'), +('99045','DORV with subpulmonary VSD'), +('99045','DORV-TGA'), +('99045','Double outlet right ventricle with transposition of the great arteries'), +('99045','Taussig-Bing syndrome'), +('99046','DORV with non-committed subpulmonary VSD'), +('99048','APV/PDA, non-Fallot type'), +('99050','Hemitruncus arteriosus'), +('99050','Pulmonary artery coming from the aorta'), +('99055','Congenital anomaly of tricuspid chordae tendineae'), +('99055','Congenital anomaly of tricuspid tendinous chords'), +('98609','EEC syndrome and related syndrome'), +('98602','Rare lacrimal system disease'), +('98605','Excretory apparatus of the lacrimal system anomaly'), +('98606','Urrets-Zavalia syndrome'), +('98594','Rare eyebrow/eyelashes anomaly'), +('98597','Eyelashes polytrichia'), +('98597','Eyelashes trichomegalia'), +('98576','Malposition of external canthus'), +('98567','Eyelids malposition disorder'), +('98566','Syndromic palpebral coloboma'), +('98565','Syndromic ankyloblepharon'), +('98555','Anophthalmia-microphthalmia syndrome'), +('98676','Autosomal recessive non-syndromic optic atrophy'), +('98673','Autosomal dominant optic atrophy, Kjer type'), +('98673','Kjer optic atrophy'), +('98673','Optic atrophy type 1'), +('98672','ADOA'), +('98672','DOA'), +('98661','Syndromic retinitis pigmentosa'), +('98640','Rare cataract'), +('98635','Corneogoniodysgenesis'), +('98625','Anterior corneal dystrophy'), +('583602','Phosphoserine aminotransferase deficiency, prenatal form'), +('583607','3-phosphoglycerate dehydrogenase deficiency, prenatal form'), +('98727','Atrial defect and interauricular communication'), +('583612','3-phosphoserine phosphatase deficiency, prenatal form'), +('98722','AVSD'), +('98722','Atrioventricular canal defect'), +('98724','Congenital aorta, aortic arch or pulmonary arteries anomaly'), +('98683','Syndrome with a symptomatic strabismus'), +('98686','Congenital CNIV palsy'), +('98686','Congenital fourth cranial nerve palsy'), +('98686','Congenital superior oblique palsy'), +('583097','CIL-F'), +('583097','Facial infused lipomatosis'), +('583097','Fibroadipose infiltrating lipomatosis'), +('98795','UPD(15)pat'), +('98794','Angelman syndrome due to maternal monosomy 15q11q13'), +('98791','ATR syndrome linked to chromosome 16'), +('98791','ATR syndrome, deletion type'), +('98791','ATR-16 syndrome'), +('98791','Alpha thalassemia-intellectual disability syndrome, deletion type'), +('98806','DYT6'), +('98806','Generalized cervical and upper-limb-onset dystonia'), +('98806','Idiopathic torsion dystonia of mixed type'), +('98805','DYT4'), +('98805','Hereditary whispering dysphonia'), +('98788','Intellectual disability-dysmorphism-intrauterine growth retardation syndrome'), +('98784','ADNFLE'), +('98784','Autosomal dominant sleep-related hypermotor epilepsy'), +('98764','SCA27'), +('98763','SCA14'), +('98766','SCA5'), +('98765','SCA4'), +('98760','SCA8'), +('98759','HDL4'), +('98759','Huntington disease-like 4'), +('98759','SCA17'), +('98762','SCA12'), +('98761','SCA10'), +('98772','SCA19/22'), +('98771','SCA18'), +('98773','SCA21'), +('98768','SCA13'), +('98767','SCA11'), +('98770','SCA16'), +('98769','SCA15/16'), +('98755','SCA1'), +('98756','SCA2'), +('98757','Azorean disease of the nervous system'), +('98757','MJD'), +('98757','Machado disease'), +('98757','Machado-Joseph disease'), +('98757','Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia'), +('98757','SCA3'), +('98758','SCA6'), +('98754','UPD(15)mat'), +('98352','Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature'), +('98353','Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature'), +('98356','Autosomal recessive isolated diffuse palmoplantar hyperkeratosis'), +('98357','Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature'), +('98343','Male infertility due to impaired sperm transport'), +('580572','ITPN'), +('98349','Autosomal dominant isolated diffuse palmoplantar hyperkeratosis'), +('98306','FPLD'), +('98313','Male infertility due to testicular dysgenesis'), +('576232','PAVC with ventricular hypoplasia'), +('576232','Partial AVSD with ventricular hypoplasia'), +('576232','Partial atrioventricular canal defect with ventricular hypoplasia'), +('576232','Partial atrioventricular septal defect with ventricular imbalance'), +('576232','Unbalanced partial atrioventricular canal'), +('576235','Balanced partial atrioventricular canal'), +('576235','PAVC without ventricular hypoplasia'), +('576235','Partial AVSD without ventricular hypoplasia'), +('576235','Partial atrioventricular canal defect without ventricular hypoplasia'), +('576235','Partial atrioventricular septal defect with balanced ventricles'), +('576227','Balanced complete atrioventricular canal'), +('576227','CAVC without ventricular hypoplasia'), +('576227','Complete AVSD without ventricular hypoplasia'), +('576227','Complete atrioventricular canal defect without ventricular hypoplasia'), +('576227','Complete atrioventricular septal defect with balanced ventricles'), +('576074','MERS'), +('575553','CARASAL'), +('576742','Genetic HUS'), +('576379','Iatrogenic MCJ'), +('576379','iCJD'), +('576356','Idiopathic human prion disease'), +('576349','FCAS4'), +('576349','Familial cold autoinflammatory syndrome 4'), +('576349','NLRC4-related familial cold urticaria'), +('576370','Variant MCJ'), +('576370','vCJD'), +('576360','Infectious human prion disease'), +('576242','Intermediate AVSD'), +('576242','Intermediate atrioventricular canal defect'), +('576242','Transitional atrioventricular canal defect'), +('576283','SATB2-associated syndrome due to a point mutation'), +('576278','SAS'), +('98374','Hemolytic anemia due to an erythroenzymopathy'), +('573253','SCM type 2'), +('573253','SCM type II'), +('573253','Split cord malformation type 2'), +('98366','Constitutional hemolytic anemia due to acanthocytic disorder'), +('98365','Hereditary stomatocytic disease'), +('574957','Autosomal recessive MSMD due to partial JAK1 deficiency'), +('98375','AHA'), +('98375','AIHA'), +('573278','SCM'), +('98456','Delta granule disease'), +('98482','IMM'), +('98482','Idiopathic inflammatory myositis'), +('572361','BPES type 2'), +('98428','Secondary erythrocytosis'), +('572428','OAS1 deficiency'), +('572428','OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia'), +('98434','Hereditary combined deficiency of factors II, VII, IX and X'), +('572543','RTD2'), +('572543','Riboflavin transporter deficiency 2'), +('572550','RTD3'), +('572550','Riboflavin transporter deficiency 3'), +('572773','MISSLA'), +('98454','SPD'), +('572798','Mitochondrial tryptophanyl-tRNA synthetase deficiency'), +('572768','MIMIS'), +('98523','PCH'), +('98523','Pontoneocerebellar atrophy'), +('98523','Pontoneocerebllar hypoplasia'), +('572333','3q23 microdeletion syndrome'), +('572333','BPES plus'), +('572354','BPES type 1'), +('570762','Bacterial endocarditis'), +('570762','Infectious endocarditis'), +('570491','QRSL1-related COXPD'), +('570438','Human herpesvirus-8-associated multicentric Castleman disease'), +('570431','HHV-8-negative multicentric Castleman disease'), +('570431','Human herpesvirus-8-negative multicentric Castleman disease'), +('570422','GALM deficiency'), +('570422','Galactosemia type 4'), +('570371','Bartter syndrome type 5'), +('98506','Acquired anterior horn cell disease'), +('98505','Genetic anterior horn cell disease'), +('98503','Anterior horn cell disease'), +('104075','Adenocarcinoma of the small bowel'), +('104011','Rare intestinal tumor'), +('104011','Rare tumor of bowel'), +('103919','AIP'), +('103918','TCP'), +('103918','Tropical calcific chronic pancreatitis'), +('103915','IPSID'), +('103915','Mediterranean lymphoma'), +('103908','Na-H exchange deficiency'), +('103908','Non-syndromic congenital sodium diarrhea'), +('103909','Isolated trehalose intolerance'), +('103907','Maltase-glucoamylase deficiency'), +('102724','AML with t(8;21)(q22;q22) translocation'), +('102379','AML and myelodysplastic syndromes related to alkylating agent'), +('102381','AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor'), +('102024','HHV-8-related disorder'), +('102069','Cholestatic hepatic amyloidosis'), +('102283','MCA/MR'), +('102283','Multiple congenital anomalies-intellectual disability with or without dysmorphism'), +('102284','MCA/variable MR'), +('102284','Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome'), +('102285','MCA without intellectual disability'), +('102285','Multiple congenital anomalies without intellectual disability with or without dysmorphism'), +('102009','Lissencephaly type 1'), +('102013','Complex HSP'), +('102013','Complex SPG'), +('102013','Complex familial spastic paraplegia'), +('102013','Complicated HSP'), +('102013','Complicated SPG'), +('102013','Complicated familial spastic paraplegia'), +('102013','Complicated hereditary spastic paraplegia'), +('102012','Pure HSP'), +('102012','Pure SPG'), +('102012','Pure familial spastic paraplegia'), +('102012','Uncomplicated HSP'), +('102012','Uncomplicated SPG'), +('102012','Uncomplicated familial spastic paraplegia'), +('102012','Uncomplicated hereditary spastic paraplegia'), +('102021','Rickettsiae disease'), +('102020','Autosomal deletion'), +('102023','Typhus-group rickettsiae disease'), +('102022','Spotted fever rickettsiae disease'), +('101685','Rare NSID'), +('101435','Rare genetic ophthalmologic disease'), +('101959','CPAI'), +('101959','Chronic adrenocorticoid insufficiency'), +('101150','Autosomal recessive Segawa syndrome'), +('101150','DYT5b'), +('101150','Tyrosine hydroxylase deficiency'), +('101150','Tyrosine hydroxylase-deficient dopa-responsive dystonia'), +('101151','DYT14'), +('101111','SCA25'), +('101112','SCA26'), +('101109','SCA28'), +('101110','SCA20'), +('101107','SCA22'), +('101108','SCA23'), +('101336','Kenya tick-bite fever'), +('101330','PCT'), +('101206','APV/ADA, Fallot type'), +('101206','Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome'), +('101206','PVA/ADA, Fallot type'), +('101085','CMT1F'), +('101088','HIGM1'), +('101088','Hyper-IgM syndrome due to CD40 ligand deficiency'), +('101088','Hyper-IgM syndrome due to CD40L deficiency'), +('101088','Hyper-IgM syndrome type 1'), +('101088','XHIGM'), +('101081','CMT1A'), +('101081','Microduplication 17p12'), +('101082','CMT1B'), +('101083','CMT1C'), +('101084','CMT1D'), +('101077','CMT3X'), +('101077','CMTX3'), +('101078','CMT4X'), +('101078','CMTX4'), +('101078','Cowchock syndrome'), +('101075','CMT1X'), +('101075','CMTX1'), +('101076','CMTX2'), +('101102','AR-CMT2C'), +('101102','Autosomal recessive axonal CMT4C2'), +('101102','Axonal Charcot-Marie-Tooth disease with pyramidal involvement'), +('101102','CMT2H'), +('101101','AR-CMT2B2'), +('101101','Autosomal recessive axonal CMT4C3'), +('101101','Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2'), +('101097','ARCMT2K'), +('101097','Autosomal recessive axonal CMT4C4'), +('101097','Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K'), +('101090','HIGM3'), +('101090','Hyper-IgM syndrome due to CD40 deficiency'), +('101089','AID deficiency'), +('101089','Activation-induced cytidine deaminase deficiency'), +('101089','HIGM2'), +('101092','HIGM5'), +('101092','Hyper-IgM syndrome due to UNG deficiency'), +('101092','Hyper-IgM syndrome due to uracil N-glycosylase'), +('101091','HIGM4'), +('101049','FHH type 2'), +('101050','FHH type 3'), +('101046','ADEAF'), +('101046','ADLTE'), +('101046','ADPEAF'), +('101046','Autosomal dominant lateral temporal lobe epilepsy'), +('101046','Partial epilepsy with auditory aura'), +('101046','Partial epilepsy with auditory features'), +('101068','CSCD'), +('101068','Congenital hereditary stromal dystrophy'), +('101068','Witschel dystrophy'), +('101063','Complete situs inversus'), +('101063','Complete situs inversus viscerum'), +('101063','Situs inversus'), +('101009','SPG29'), +('101010','SPG30'), +('101011','SPG31'), +('101016','Romano-Ward long QT syndrome'), +('101039','EFMR'), +('101039','Juberg-Hellman syndrome'), +('101028','TALDO deficiency'), +('100984','Strümpell disease'), +('100982','Autosomal recessive pure HSP'), +('100982','Autosomal recessive pure SPG'), +('100982','Autosomal recessive uncomplicated HSP'), +('100982','Autosomal recessive uncomplicated SPG'), +('100982','Autosomal recessive uncomplicated spastic paraplegia'), +('100981','Autosomal recessive complex HSP'), +('100981','Autosomal recessive complex SPG'), +('100981','Autosomal recessive complicated HSP'), +('100981','Autosomal recessive complicated SPG'), +('100981','Autosomal recessive complicated spastic paraplegia'), +('100980','Autosomal dominant pure HSP'), +('100980','Autosomal dominant pure SPG'), +('100980','Autosomal dominant uncomplicated HSP'), +('100980','Autosomal dominant uncomplicated SPG'), +('100980','Autosomal dominant uncomplicated spastic paraplegia'), +('100979','Autosomal dominant complex HSP'), +('100979','Autosomal dominant complex SPG'), +('100979','Autosomal dominant complicated HSP'), +('100979','Autosomal dominant complicated SPG'), +('100979','Autosomal dominant complicated spastic paraplegia'), +('100978','Benallegue-Lacete syndrome'), +('100991','SPG10'), +('100990','SPG9'), +('100989','SPG8'), +('100988','SPG6'), +('100986','SPG5A'), +('100985','SPG4'), +('100999','SPG19'), +('101000','Childhood-onset spastic paraparesis-distal muscle wasting syndrome'), +('101000','SPG20'), +('101000','Troyer syndrome'), +('100997','SPG16'), +('100998','SPG17'), +('100998','Silver syndrome'), +('100998','Spastic paraplegia-amyotrophy of hands and feet'), +('100995','SPG14'), +('100996','Hereditary spastic paraparesis type 15'), +('100996','Kjellin syndrome'), +('100996','SPG15'), +('100996','Spastic paraplegia-retinal degeneration syndrome'), +('100993','SPG12'), +('100994','SPG13'), +('101007','SPG27'), +('101008','SPG28'), +('101005','Autosomal recessive spastic paraplegia-disc herniation syndrome'), +('101005','SPG25'), +('101006','GM2 synthase deficiency'), +('101006','SPG26'), +('101003','Lison syndrome'), +('101003','SPG23'), +('101003','Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome'), +('101004','SPG24'), +('101001','Mast syndrome'), +('101001','SPG21'), +('100093','Malignant carcinoid syndrome'), +('100092','GEP-NEN'), +('100924','ALAD porphyria'), +('100924','Porphyria due to ALAD deficiency'), +('100924','Porphyria due to delta-aminolevulinate dehydratase deficiency'), +('100924','Porphyria of Doss'), +('100973','Intellectual disability associated with fragile site FRAXE'), +('100976','BSI'), +('100054','F12-related HAE with normal C1 inhibitor'), +('100054','HAE 3'), +('100054','HAE-III'), +('100054','Hereditary angioedema type 3'), +('100054','Hereditary angioneurotic edema type 3'), +('100054','Inherited estrogen-associated angioedema'), +('100054','Inherited estrogen-associated angioneurotic edema'), +('100054','Inherited estrogen-dependent angioedema'), +('100054','Inherited estrogen-dependent angioneurotic edema'), +('100051','HAE 2'), +('100051','HAE-II'), +('100051','Hereditary angioneurotic edema type 2'), +('100057','ACE inhibitor-related acquired angioedema'), +('100057','ACEI-related acquired angioedema'), +('100057','Acquired angioedema with normal C1 inhibitor'), +('100057','Acquired angioedema with normal C1INH'), +('100057','RAAS-blocker-induced angioedema'), +('100057','RAAS-blocker-induced angioneurotic edema'), +('100057','RAE'), +('100057','Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema'), +('100056','Acquired angioneurotic edema type 1'), +('100055','AAE 2'), +('100055','AAE II'), +('100055','Acquired angioneurotic edema type 2'), +('100069','Semantic primary progressive aphasia'), +('100069','Semantic variant PPA'), +('100070','Agramatic variant of PPA'), +('100070','Agramatic variant of primary progressive aphasia'), +('100070','Non-fluent variant PPA'), +('100073','NTOS'), +('100073','Neurogenic TOS'), +('100073','Neurogenic cervical rib syndrome'), +('100073','Neurogenic costoclavicular syndrome'), +('100073','Neurogenic thoracic outlet compression syndrome'), +('100075','GNET'), +('100075','Gastric NET'), +('100075','Gastric neuroendocrine tumor'), +('100075','NET of stomach'), +('100071','Mosaic trisomy chromosome 3'), +('100071','Trisomy 3 mosaicism'), +('100078','Ileal neuroendocrine neoplasm'), +('100079','Appendiceal NEN'), +('100079','Appendiceal neuroendocrine neoplasm'), +('100079','NEN of appendix'), +('100077','Jejunal neuroendocrine neoplasm'), +('100082','NET of anal canal'), +('100080','Colonic NET'), +('100080','NET of the colon'), +('100080','Neuroendocrine neoplasm of the colon'), +('100081','NET of the rectum'), +('100081','Rectal NET'), +('100081','Rectal neuroendocrine tumor'), +('100020','RAEB-2'), +('100019','RAEB-1'), +('100024','mu-HCD'), +('100026','Franklin disease'), +('100026','Gamma-HCD'), +('100025','Alpha-HCD'), +('100025','IPSID'), +('100025','Immunoproliferative small intestinal disease'), +('100025','Mediterranean lymphoma'), +('100032','Amelogenesis imperfecta type 3'), +('100031','Amelogenesis imperfecta type 1'), +('100034','Amelogenesis imperfecta type 4'), +('100033','Amelogenesis imperfecta type 2'), +('100035','Hepatic solitary necrotic nodule'), +('100043','CMTDIA'), +('100044','CMTDIB'), +('100045','CMTDIC'), +('100046','CMTDID'), +('100049','Primary ILD specific to childhood due to pulmonary surfactant protein anomalies'), +('100050','HAE 1'), +('100050','HAE-I'), +('100050','Hereditary angioneurotic edema type 1'), +('100008','CST3-related amyloidosis'), +('100008','Cystatin amyloidosis'), +('100008','HCHWA, Icelandic type'), +('100008','Hereditary cerebral hemorrhage with amyloidosis, Icelandic type'), +('100008','Hereditary cystatin C amyloid angiopathy'), +('100006','ABetaE22Q amyloidosis'), +('100006','HCHWA, Dutch type'), +('100006','HCHWA-D'), +('100006','Hereditary cerebral hemorrhage with amyloidosis, Dutch type'), +('100002','Soft tissue perineurioma'), +('99995','Algodystrophy'), +('99995','Reflex sympathetic dystrophy'), +('99994','Causalgia'), +('99989','Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form'), +('99990','Brill disease'), +('99990','Recrudescent typhus'), +('99978','Hilar CCA'), +('99978','Hilar cholangiocarcinoma'), +('99977','ESCC'), +('99977','Esophageal epidermoid carcinoma'), +('99977','Esophageal squamous cell carcinoma'), +('99976','Esophageal adenocarcinoma'), +('99973','IgA2 deficiency'), +('99972','IgA1 deficiency'), +('99971','ALT'), +('99971','Atypical lipoma'), +('99971','Atypical lipomatous tumor'), +('99971','WDLS'), +('99969','PLS'), +('99970','DDLS'), +('99967','MRCLS'), +('99966','ATRT'), +('99961','BRIC type 2'), +('99961','BRIC2'), +('99960','BRIC type 1'), +('99960','BRIC1'), +('99955','CMT4B1'), +('99956','CMT4B2'), +('99948','CMT4A'), +('99947','CMT2A2'), +('99950','CMT4D'), +('99950','HMSN, Lom type'), +('99950','HMSN-Lom'), +('99950','Hereditary motor and sensory neuropathy, Lom type'), +('99949','CMT4C'), +('99952','CMT4F'), +('99951','Autosomal recessive congenital hypomyelinating neuropathy'), +('99951','CMT4E'), +('99954','CMT4H'), +('99953','CMT4G'), +('99953','HMSNR'), +('99953','Hereditary motor and sensory neuropathy, Russe Type'), +('99940','CMT2F'), +('99939','CMT2E'), +('99942','CMT2I'), +('99941','CMT2G'), +('99944','CMT2K'), +('99943','CMT2J'), +('99946','CMT2A1'), +('99945','CMT2L'), +('99932','Cow`s milk hypersensitivity'), +('99936','CMT2B'), +('99937','CMT2C'), +('99938','CMT2D'), +('99927','Molar pregnancy'), +('99928','PSST'), +('99918','Streptococcal TSS'), +('99917','Theca (steroid-producing) cell cancer, not further specified'), +('99916','Androblastoma'), +('99916','Arrhenoblastoma'), +('99916','Ovarian Sertoli-Leydig cell cancer'), +('99916','Ovarian malignant Sertoli-Leydig cell tumor'), +('99916','Virilizing ovarian tumor'), +('99915','Granulosa cell cancer'), +('99915','Granulosa cell malignant tumor'), +('99919','Staphylococcal TSS'), +('99908','Bird fancier lung'), +('99912','Dysgerminomatous germ cell cancer of the ovary'), +('99912','Malignant ovarian dysgerminoma'), +('99901','ACAD9 deficiency'), +('99900','LCAD'), +('99903','Sodoku'), +('99893','Adrenal Cushing syndrome'), +('99893','Adrenocorticotropic hormone-independent Cushing syndrome'), +('99893','Corticotropin-independent Cushing syndrome'), +('99892','ACTH-dependent CS'), +('99892','Adrenocorticotropic hormone-dependent Cushing syndrome'), +('99892','Corticotropin-dependent Cushing syndrome'), +('99898','MSMD due to complete IFNgammaR1 deficiency'), +('99898','MSMD due to complete interferon gamma receptor 1 deficiency'), +('99898','Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency'), +('99879','FIHPT'), +('99880','HPT-JT'), +('99875','EDS VIIA'), +('99876','EDS VIIB'), +('99878','Familial parathyroids hyperplasia'), +('99878','Hereditary parathyroids hyperplasia'), +('99887','DS-AMKL'), +('99889','Adrenocorticotropic hormone secretion syndrome'), +('99889','Ectopic ACTH secreting tumor'), +('99889','Ectopic Cushing syndrome'), +('99889','Occult ectopic ACTH secretion'), +('99889','Paraneoplastic Cushing syndrome'), +('99885','Monogenic diabetes of infancy'), +('99885','PNDM'), +('99886','TNDM'), +('99860','B-ALL'), +('99860','Precursor B-cell acute lymphoblastic leukemia/lymphoma'), +('99860','Precursor B-cell acute lymphocytic leukemia'), +('99860','Precursor B-cell acute lymphocytic leukemia/lymphoma'), +('99861','Precursor T-cell acute lymphoblastic leukemia/lymphoma'), +('99861','Precursor T-cell acute lymphocytic leukemia'), +('99861','Precursor T-cell acute lymphocytic leukemia/lymphoma'), +('99861','T-ALL'), +('99872','Congenital Langerhans cell histiocytosis'), +('99871','Chronic and localized Langerhans cell histiocytosis'), +('99874','Pulmonary histiocytosis X'), +('99873','Chronic multifocal Langerhans cell histiocytosis'), +('99873','Multifocal eosinophilic granuloma'), +('99868','Malignant thymoma'), +('99867','Primary thymic epithelial neoplasm'), +('99867','Primary thymic epithelial tumor'), +('99870','Acute and disseminated Langerhans cell histiocytosis'), +('99849','GSD due to muscle beta-enolase deficiency'), +('99849','GSDXIII'), +('99849','Glycogenosis due to muscle beta-enolase deficiency'), +('99849','Glycogenosis type 13'), +('99849','Muscle enolase deficiency'), +('99849','Muscular enolase deficiency'), +('99843','CDG syndrome type IIc'), +('99843','CDG-IIc'), +('99843','CDG2C'), +('99843','LAD-II'), +('99843','Rambam-Hasharon syndrome'), +('99843','SLC35C1-CDG'), +('99844','LAD-1 variant'), +('99844','LAD-III'), +('99844','Leukocyte adhesion deficiency-1 variant'), +('99856','Congenital syringomyelia'), +('99852','Progressive encephalopathy with severe infantile anorexia'), +('99852','Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome'), +('99832','Central hypothyroidism due to TRH receptor deficiency'), +('99832','TRH resistance syndrome'), +('99831','CVID due to an intrinsic T cell defect'), +('99829','Bronze John'), +('99829','YF'), +('99829','Yellow Jack'), +('99828','DF'), +('99828','Dengue virus infection'), +('99827','CCHF'), +('99827','Congo fever'), +('99827','Congo hemorrhagic fever'), +('99827','Crimean hemorrhagic fever'), +('99842','LAD-I'), +('99812','DNA ligase IV deficiency'), +('99812','Ligase 4 syndrome'), +('99824','LF'), +('99824','Lassa hemorrhagic fever'), +('99825','Nipah encephalitis'), +('99825','Nipah fever'), +('99826','Green monkey disease'), +('99826','MHF'), +('99826','Marburg virus disease'), +('99796','Subcortical laminar heterotopia'), +('99798','Selective tooth agenesis'), +('99802','Unilateral megalencephaly'), +('99803','Congenital central alveolar hypoventilation-Hirschsprung disease syndrome'), +('99803','Ondine-Hirschsprung disease'), +('99803','Ondine-Hirschsprung syndrome'), +('99806','OOD'), +('99781','CCAL1'), +('99782','CCAL2'), +('99789','DD-I'), +('99789','DTDP1'), +('99789','Radicular dentin dysplasia'), +('99791','DD-II'), +('99791','DTDP2'), +('99764','Aldosterone synthase deficiency unrelated to CYP11B2'), +('99764','Aldosterone synthase deficiency unrelated to the aldosterone synthase gene'), +('99764','FHHA2'), +('99763','18-hydroxylase deficiency'), +('99763','18-oxidase deficiency'), +('99763','Aldosterone synthase deficiency'), +('99763','CMO I'), +('99763','CMO II'), +('99763','Corticosterone methyloxidase deficiency type I'), +('99763','FHHA1'), +('99772','Cleft soft palate'), +('99772','Cleft velum palatinum'), +('99771','Bifidity of the uvula'), +('99771','Uvular cleft'), +('99776','Mosaic trisomy chromosome 9'), +('99776','Trisomy 9 mosaicism'), +; \ No newline at end of file diff --git a/Database/insertDiseases.sql b/Database/insertDiseases.sql index 974fcd2..77fcb55 100644 --- a/Database/insertDiseases.sql +++ b/Database/insertDiseases.sql @@ -1,6 +1,6 @@ USE RareDiagnostics; -INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali type', 'Disease', 'Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.'), +INSERT INTO Diseases VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali type', 'Disease', 'Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.'), ('58', 'Alexander disease', 'Disease', 'A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.'), ('166032', 'Multiple epiphyseal dysplasia, with miniepiphyses', 'Disease', 'Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.'), ('61', 'Alpha-mannosidosis', 'Disease', 'An inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.'), @@ -42,7 +42,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('166260', 'Dentinogenesis imperfecta type 2', 'Clinical subtype', 'Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth.'), ('166265', 'Dentinogenesis imperfecta type 3', 'Clinical subtype', 'Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).'), ('583', 'Mucopolysaccharidosis type 6', 'Disease', 'Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.'), -('166272', 'Odontochondrodysplasia', 'Malformation syndrome', 'Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.'), +('166272', 'Odontochondrodysplasia', 'Malformation syndrome', 'A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.'), ('576', 'Mucolipidosis type II', 'Disease', 'Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.'), ('166277', 'Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia', 'Malformation syndrome', 'Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.'), ('812', 'Sialidosis type 1', 'Disease', 'Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.'), @@ -83,7 +83,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('166457', 'OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis', 'Clinical group', 'no definition available'), ('586', 'Cystic fibrosis', 'Disease', 'Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.'), ('166463', 'Epilepsy syndrome', 'Category', 'no definition available'), -('262', 'Duchenne and Becker muscular dystrophy', 'Clinical group', 'Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.'), +('262', 'Duchenne and Becker muscular dystrophy', 'Clinical group', 'A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females.'), ('166478', 'Cerebral malformation with epilepsy', 'Category', 'no definition available'), ('166481', 'Metabolic diseases with epilepsy', 'Category', 'no definition available'), ('166472', 'Monogenic disease with epilepsy', 'Category', 'no definition available'), @@ -219,7 +219,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('163637', 'Rare disorder related with pregnancy, childbirth and puerperium', 'Category', 'no definition available'), ('104', 'Leber hereditary optic neuropathy', 'Disease', 'Leber`s hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.'), ('163631', 'Bile acid synthesis defect with cholestasis and malabsorption', 'Category', 'no definition available'), -('2182', 'Hydrocephalus with stenosis of the aqueduct of Sylvius', 'Clinical subtype', 'Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.'), +('2182', 'Hydrocephalus with stenosis of the aqueduct of Sylvius', 'Clinical subtype', 'A congenital, X-linked, clinical subtype of L1 syndrome, characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.'), ('163634', 'Maffucci syndrome', 'Disease', 'Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.'), ('163717', 'Benign familial mesial temporal lobe epilepsy', 'Disease', 'Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.'), ('163708', 'Cryptogenic late-onset epileptic spasms', 'Disease', 'Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.'), @@ -578,7 +578,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('181371', 'Rare diabetes mellitus type 1', 'Category', 'no definition available'), ('763', 'Pycnodysostosis', 'Disease', 'Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.'), ('181376', 'Rare diabetes mellitus type 2', 'Category', 'no definition available'), -('2983', 'Disorder of sex development-intellectual disability syndrome', 'Disease', 'Verloes-Gillerot-Fryns syndrome is a rare association of malformations.'), +('2983', 'Disorder of sex development-intellectual disability syndrome', 'Disease', 'A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.'), ('2982', '46,XX disorder of sex development', 'Category', 'no definition available'), ('181368', 'Rare insulin-resistance syndrome', 'Category', 'no definition available'), ('2981', 'Pseudo-Zellweger syndrome', 'Disease', 'no definition available'), @@ -898,7 +898,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('199323', 'Endophthalmitis', 'Disease', 'no definition available'), ('1928', 'Congenital lobar emphysema', 'Morphological anomaly', 'A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.'), ('199332', 'Endocrine-cerebro-osteodysplasia syndrome', 'Malformation syndrome', 'Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.'), -('199329', 'Congenital myopathy, Paradas type', 'Disease', 'Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.'), +('199329', 'Congenital myopathy, Paradas type', 'Disease', 'A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.'), ('2665', 'Congenital mesoblastic nephroma', 'Disease', 'no definition available'), ('3463', 'Wolfram syndrome', 'Disease', 'A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.'), ('1549', 'Cryptosporidiosis', 'Disease', 'Cryptosporidiosis is a protozoan disease caused by small coccidia, e.g. Cryptosporidium spp, that colonize the intestinal epithelial cells of humans and of a wide variety of animals.'), @@ -907,7 +907,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('199639', 'Syndrome with corpus callosum agenesis/dysgenesis as a major feature', 'Category', 'no definition available'), ('549', 'Legionellosis', 'Disease', 'Legionellosis or Legionnaires` disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.'), ('704', 'Pemphigus vulgaris', 'Disease', 'A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.'), -('199354', 'Cerebral autosomal recessive arteriopathy-subcortical infracts-leukoencephalopathy', 'Disease', 'CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.'), +('199354', 'Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy', 'Disease', 'CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.'), ('199351', 'Adult-onset dystonia-parkinsonism', 'Disease', 'A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.'), ('356', 'Gerstmann-Straussler-Scheinker syndrome', 'Disease', 'Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.'), ('466', 'Fatal familial insomnia', 'Disease', 'Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.'), @@ -924,7 +924,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('2102', 'GTP cyclohydrolase I deficiency', 'Clinical subtype', 'GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.'), ('199279', 'Familial angiolipomatosis', 'Disease', 'Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.'), ('199260', 'Calcifying aponeurotic fibroma', 'Disease', 'A rare, superficial fibromatosis characterized by non-malignant, locally invading, fibrosing tumour of differentiated fibroblasts, slowly growing subcutaneously, occurring predominantly distally on the extremities, especially the hands and feet. Histologic examination shows a multinodular pattern with large areas of calcification and fibrosis, and the presence of elongated spindle cells with hyperchromatic plump vesicular nuclei interspersed within fine bands of collagen.'), -('3002', 'Immune thrombocytopenia', 'Disease', 'Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.'), +('3002', 'Immune thrombocytopenia', 'Disease', 'A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.'), ('199267', 'Infantile digital fibromatosis', 'Disease', 'Infantile digital fibromatosis is a rare, benign, superficial fibromatosis characterized by firm, pinkish to flesh-colored, solitary or multiple nodular growths, typically less than 2 cm in size. They occur on the dorsal or lateral aspect of fingers and toes and have a tendency to recur. Histology reveals bland intradermal spindle cells with spherical perinuclear inclusion bodies.'), ('199315', 'Familial clubfoot with or without associated lower limb anomalies', 'Malformation syndrome', 'Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.'), ('2040', 'Congenital respiratory-biliary fistula', 'Morphological anomaly', 'Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.'), @@ -1440,7 +1440,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('1264', 'Tricho-retino-dento-digital syndrome', 'Malformation syndrome', 'Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.'), ('1262', 'Böök syndrome', 'Malformation syndrome', 'Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.'), ('1263', 'Boomerang dysplasia', 'Disease', 'Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.'), -('1259', 'Blepharoptosis-myopia-ectopia lentis syndrome', 'Disease', 'This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.'), +('1259', 'Blepharoptosis-myopia-ectopia lentis syndrome', 'Disease', 'A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.'), ('1261', 'Bonnemann-Meinecke-Reich syndrome', 'Malformation syndrome', 'Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.'), ('1256', 'OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome', 'Malformation syndrome', 'no definition available'), ('1235', 'OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome', 'Disease', 'no definition available'), @@ -1489,7 +1489,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('137596', 'Neurotrophic keratopathy', 'Disease', 'Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.'), ('1278', 'Brachydactyly-preaxial hallux varus syndrome', 'Malformation syndrome', 'A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals.'), ('137599', 'Herpes simplex virus stromal keratitis', 'Disease', 'Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.'), -('137602', 'Endotheliitis', 'Disease', 'no definition available'), +('137602', 'Endotheliitis', 'Disease', 'A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.'), ('1166', 'Congenital unilateral hypoplasia of depressor anguli oris', 'Morphological anomaly', 'Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).'), ('1168', 'Ataxia-oculomotor apraxia type 1', 'Disease', 'A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.'), ('137820', 'Extrapelvic endometriosis', 'Disease', 'Rare endometriosis is a rare, non-malformative gynecologic disease characterized by the presence of functional endometrial glands and stroma in extrapelvic locations, such as lungs, pleura, kidneys, bladder, abdominal wall, umbilicus, and cesarean section scar among others. Clinical manifestations are menstrually-related and depend on the location of the ectopic tissue, but in general include pain, mass/nodule, swelling and/or bleeding in the involved area.'), @@ -1689,7 +1689,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('157823', 'Klüver-Bucy syndrome', 'Clinical syndrome', 'A rare neurologic disease characterized by visual agnosia, hyperorality (strong tendency to examine objects orally), hypermetamorphosis (described as the irresistible impulse to notice and react to everything within sight), hypersexuality, changes in dietary habits and hyperphagia, placidity, and amnesia, due to bilateral lesions of the temporal lobe including the hippocampus and amygdala.'), ('157826', 'Congenital epulis', 'Disease', 'A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported.'), ('157808', 'Congenital pseudoarthrosis of the limbs', 'Morphological anomaly', 'Congenital pseudoarthrosis of the limbs is a rare, genetic, non-syndromic limb malformation characterized by delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated.'), -('1390', 'Night blindness-skeletal anomalies-dysmorphism syndrome', 'Malformation syndrome', 'This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).'), +('1390', 'Night blindness-skeletal anomalies-dysmorphism syndrome', 'Malformation syndrome', 'A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.'), ('157820', 'Cold-induced sweating syndrome', 'Disease', 'Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.'), ('1389', 'Cortical blindness-intellectual disability-polydactyly syndrome', 'Malformation syndrome', 'A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.'), ('157798', 'Hyperplastic polyposis syndrome', 'Disease', 'Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.'), @@ -1882,7 +1882,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('1569', 'De Sanctis-Cacchione syndrome', 'Disease', 'no definition available'), ('1499', 'OBSOLETE: Cortada-Koussef-Matsumoto syndrome', 'Malformation syndrome', 'no definition available'), ('140432', 'OBSOLETE: Hereditary iron overload with anemia', 'Category', 'no definition available'), -('1497', 'X-linked complicated corpus callosum dysgenesis', 'Clinical subtype', 'X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.'), +('1497', 'X-linked complicated corpus callosum dysgenesis', 'Clinical subtype', 'A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. This subtype represents an unusual clinical presentation of the L1 syndrome spectrum in which no hydrocephalus, adducted thumbs, or absent speech are observed.'), ('140436', 'Primary intraosseous venous malformation', 'Disease', 'Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.'), ('140450', 'OBSOLETE: Hereditary motor and sensory neuropathy', 'Category', 'no definition available'), ('140453', 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy', 'Category', 'no definition available'), @@ -2070,7 +2070,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('157835', 'Paroxysmal hemicrania', 'Disease', 'A rare primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with ipsilateral cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.'), ('2065', 'Galloway-Mowat syndrome', 'Malformation syndrome', 'A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.'), ('2075', 'Genitopalatocardiac syndrome', 'Malformation syndrome', 'Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.'), -('157938', 'OBSOLETE: Joker disease', 'Disease', 'no definition available'), ('157941', 'Huntington disease-like 1', 'Disease', 'A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities.'), ('2074', 'Gemignani syndrome', 'Malformation syndrome', 'Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.'), ('157850', 'Pantothenate kinase-associated neurodegeneration', 'Disease', 'Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.'), @@ -2112,7 +2111,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('2019', 'Femur-fibula-ulna complex', 'Malformation syndrome', 'Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.'), ('2024', 'Hereditary gingival fibromatosis', 'Malformation syndrome', 'Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.'), ('2022', 'Endocardial fibroelastosis', 'Disease', 'Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.'), -('2824', 'Paraplegia-intellectual disability-hyperkeratosis syndrome', 'Malformation syndrome', 'A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis.'), +('2824', 'Paraplegia-intellectual disability-hyperkeratosis syndrome', 'Malformation syndrome', 'A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.'), ('2045', 'FLOTCH syndrome', 'Disease', 'FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.'), ('2044', 'Floating-Harbor syndrome', 'Malformation syndrome', 'A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.'), ('2031', 'Hepatic fibrosis-renal cysts-intellectual disability syndrome', 'Malformation syndrome', 'Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.'), @@ -2458,7 +2457,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('2256', 'Fibulo-ulnar hypoplasia-renal anomalies syndrome', 'Malformation syndrome', 'Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.'), ('2257', 'Primary pulmonary hypoplasia', 'Malformation syndrome', 'Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.'), ('250977', 'AICA-ribosiduria', 'Disease', 'An extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.'), -('2258', 'Congenital unilateral pulmonary hypoplasia', 'Disease', 'no definition available'), ('250994', '1q21.1 microduplication syndrome', 'Malformation syndrome', '1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.'), ('250989', '1q21.1 microdeletion syndrome', 'Malformation syndrome', '1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.'), ('2250', 'Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome', 'Disease', 'This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.'), @@ -3010,7 +3008,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('2987', 'Antecubital pterygium syndrome', 'Malformation syndrome', 'A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.'), ('2985', 'Pseudoprogeria syndrome', 'Malformation syndrome', 'A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallerman-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.'), ('263044', 'Uniparental disomy of chromosome 13', 'Category', 'no definition available'), -('2989', 'Familial pterygium of the conjunctiva', 'Morphological anomaly', 'A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.'), ('263049', 'Uniparental disomy of chromosome 14', 'Category', 'no definition available'), ('2988', 'Pterygium colli-intellectual disability-digital anomalies syndrome', 'Malformation syndrome', 'A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.'), ('262995', 'Partial trisomy of the long arm of chromosome 20', 'Category', 'no definition available'), @@ -3714,7 +3711,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('206959', 'Muscular glycogenosis', 'Clinical group', 'no definition available'), ('777', 'X-linked non-syndromic intellectual disability', 'Etiological subtype', 'no definition available'), ('206953', 'Muscular lipidosis', 'Category', 'no definition available'), -('766', 'Hemolytic anemia due to red cell pyruvate kinase deficiency', 'Disease', 'Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.'), +('766', 'Hemolytic anemia due to red cell pyruvate kinase deficiency', 'Disease', 'A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.'), ('206979', 'OBSOLETE: Granulomatous myositis', 'Category', 'no definition available'), ('206976', 'Periodic paralysis', 'Clinical group', 'no definition available'), ('411', 'Hyperlipoproteinemia type 1', 'Disease', 'no definition available'), @@ -4306,7 +4303,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('3399', 'Germ cell tumor', 'Category', 'no definition available'), ('389', 'Langerhans cell histiocytosis', 'Disease', 'Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.'), ('228012', 'Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome', 'Disease', 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.'), -('616', 'Medulloblastoma', 'Disease', 'Medulloblastoma (MB) is an embryonic tumor of the neuroepithelial tissue and the most frequent primary pediatric solid malignancy. MB represents a heterogeneous group of cerebellar tumors characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia.'), +('616', 'Medulloblastoma', 'Disease', 'A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and ataxia. The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehoc-activated, group 3, group 4).'), ('301', 'Ependymal tumor', 'Clinical group', 'Ependymal tumor is a tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (benign or low grade tumors) or anaplastic ependymoma (malignant or grade III tumors).'), ('541', 'Primary cutaneous CD30+ T-cell lymphoproliferative disease', 'Clinical group', 'no definition available'), ('543', 'Burkitt lymphoma', 'Disease', 'Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.'), @@ -5733,8 +5730,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('306597', 'X-linked Opitz G/BBB syndrome', 'Etiological subtype', 'no definition available'), ('306588', 'Autosomal dominant Opitz G/BBB syndrome', 'Etiological subtype', 'no definition available'), ('306577', 'Sodium channelopathy-related small fiber neuropathy', 'Disease', 'Sodium channelopathy-related small fiber neuropathy is a rare, genetic, peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extermities and with a burning quality) associated with autonomic dysfunction (e.g. orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing, and reduction in intraepidermal nerve fiber density. Large fiber functions (i.e. normal strength, tendon reflexes, and vibration sense) and nerve conduction studies are typically normal.'), -('306574', 'OBSOLETE: Methotrexate dose selection', 'Particular clinical situation in a disease or syndrome', 'no definition available'), -('306566', 'OBSOLETE: Susceptibility to myopathies due to statin treatment', 'Particular clinical situation in a disease or syndrome', 'no definition available'), ('306561', 'OBSOLETE: Autosomal dominant childhood-onset cortical cataract', 'Clinical subtype', 'no definition available'), ('306558', 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome', 'Disease', 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.'), ('295091', 'OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral', 'Clinical subtype', 'no definition available'), @@ -5862,7 +5857,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('456298', '1p35.2 microdeletion syndrome', 'Malformation syndrome', 'A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.'), ('456328', 'X-linked myotubular myopathy-abnormal genitalia syndrome', 'Disease', 'X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.'), ('456333', 'Hereditary neuroendocrine tumor of small intestine', 'Disease', 'no definition available'), -('456312', 'Infantile multisystem neurologic-endocrine-pancreatic disease', 'Disease', 'no definition available'), +('456312', 'Infantile multisystem neurologic-endocrine-pancreatic disease', 'Disease', 'A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients.'), ('456318', 'Hereditary sensory neuropathy-deafness-dementia syndrome', 'Disease', 'A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade.'), ('454840', 'NTHL1-related attenuated familial adenomatous polyposis', 'Clinical subtype', 'no definition available'), ('454872', 'OBSOLETE: Type 1 interferonopathy with immunodeficiency', 'Category', 'no definition available'), @@ -5904,7 +5899,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('448348', 'OBSOLETE: X-linked acrogigantism due to a point mutation', 'Etiological subtype', 'no definition available'), ('448264', 'Isolated focal non-epidermolytic palmoplantar keratoderma', 'Disease', 'no definition available'), ('448251', 'Progressive autosomal recessive ataxia-deafness syndrome', 'Disease', 'A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.'), -('448270', 'Ectopia cordis', 'Morphological anomaly', 'no definition available'), +('448270', 'Ectopia cordis', 'Morphological anomaly', 'A rare, life-threatening, congenital non-syndromic heart malformation characterized by complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.'), ('448267', 'Regressive spondylometaphyseal dysplasia', 'Malformation syndrome', 'Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.'), ('448010', 'CAD-CDG', 'Disease', 'CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.'), ('447997', 'Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome', 'Disease', 'A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy.'), @@ -5970,7 +5965,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('457077', 'TAFRO syndrome', 'Disease', 'no definition available'), ('457095', 'Actinomycosis', 'Disease', 'A rare bacterial infectious disease characterized by a chronic granulomatous infection by Actinomyces species which are commensals in the human gastrointestinal and urogenital tract and oropharynx. Corresponding to the affected site, the disease presents as cervicofacial, respiratory tract, genitourinary tract, digestive tract, central nervous system, or cutaneous actinomycosis and leads to the formation of abscesses and fistulae in the respective region.'), ('457088', 'Predisposition to invasive fungal disease due to CARD9 deficiency', 'Disease', 'A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.'), -('457223', 'Syndromic sensorineural deafness due to combined oxidative phosphorylation defect', 'Disease', 'no definition available'), +('457223', 'Syndromic sensorineural deafness due to combined oxidative phosphorylation defect', 'Disease', 'A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.'), ('457212', 'Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome', 'Disease', 'no definition available'), ('457193', 'Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome', 'Malformation syndrome', 'no definition available'), ('457205', 'Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome', 'Disease', 'A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.'), @@ -6332,10 +6327,10 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('436003', 'Contractures-developmental delay-Pierre Robin syndrome', 'Malformation syndrome', 'no definition available'), ('436159', 'Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency', 'Disease', 'A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.'), ('436151', 'Intellectual disability-expressive aphasia-facial dysmorphism syndrome', 'Disease', 'A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures.'), -('436169', 'Thrombomodulin-related bleeding disorder', 'Disease', 'no definition available'), +('436169', 'Thrombomodulin-related bleeding disorder', 'Disease', 'A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation.'), ('436166', 'Periodic fever-infantile enterocolitis-autoinflammatory syndrome', 'Disease', 'no definition available'), ('436182', 'Microcephalic primordial dwarfism-insulin resistance syndrome', 'Malformation syndrome', 'no definition available'), -('436174', 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome', 'Disease', 'no definition available'), +('436174', 'Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome', 'Disease', 'A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging.'), ('436245', 'Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome', 'Disease', 'A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium).'), ('436242', 'Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease', 'Disease', 'no definition available'), ('436271', 'Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy', 'Disease', 'A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.'), @@ -6348,14 +6343,14 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('438134', 'PCNA-related progressive neurodegenerative photosensitivity syndrome', 'Disease', 'PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.'), ('438117', 'Steel syndrome', 'Disease', 'no definition available'), ('438114', 'RARS-related autosomal recessive hypomyelinating leukodystrophy', 'Disease', 'A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.'), -('438075', 'Ketoacidosis due to monocarboxylate transporter-1 deficiency', 'Disease', 'no definition available'), +('438075', 'Ketoacidosis due to monocarboxylate transporter-1 deficiency', 'Disease', 'A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.'), ('438072', 'Disorder of keton body transport', 'Category', 'no definition available'), ('438279', 'Human infection by orthopoxvirus', 'Disease', 'A rare viral disease characterized by fever, malaise, lymphadenopathy, and a maculopapular exanthema spreading from the site of infection to other regions of the body. The skin lesions eventually dry out and may leave behind scars. The most relevant orthopox species for human disease after the eradication of the variola virus, which was responsible for smallpox, are the monkeypox virus and the cowpox virus. Infections with these viruses typically take a benign course.'), ('438274', 'GCGR-related hyperglucagonemia', 'Disease', 'A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.'), ('438266', 'Progressive encephalomyelitis with rigidity and myoclonus', 'Clinical subtype', 'no definition available'), ('438216', 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation', 'Etiological subtype', 'no definition available'), ('438213', 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome', 'Disease', 'A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.'), -('438207', 'Severe autosomal recessive macrothrombocytopenia', 'Disease', 'no definition available'), +('438207', 'Severe autosomal recessive macrothrombocytopenia', 'Disease', 'A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.'), ('439224', 'ALECT2 amyloidosis', 'Disease', 'A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.'), ('439232', 'AApoAIV amyloidosis', 'Disease', 'A rare, systemic amyloidosis characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. Cardiac involvement presents as hypertrophic obstructive cardiomyopathy, left ventricular outflow tract obstruction, coronary artery disease and conduction system abnormalities. Histology reveals renal tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullar amyloid deposits.'), ('439212', 'Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome', 'Disease', 'no definition available'), @@ -6393,7 +6388,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('441434', 'Syndromic hereditary optic neuropathy', 'Category', 'no definition available'), ('441447', 'Early-onset posterior subcapsular cataract', 'Clinical subtype', 'no definition available'), ('441452', 'Early-onset lamellar cataract', 'Clinical subtype', 'no definition available'), -('440987', 'Isolated agenesis of gallbladder', 'Morphological anomaly', 'no definition available'), +('440987', 'Isolated agenesis of gallbladder', 'Morphological anomaly', 'A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.'), ('441344', 'OBSOLETE: Autosomal recessive optic atrophy, OPA9 type', 'Clinical subtype', 'no definition available'), ('443057', 'Sporadic porphyria cutanea tarda', 'Clinical subtype', 'no definition available'), ('443062', 'Familial porphyria cutanea tarda', 'Clinical subtype', 'no definition available'), @@ -6452,7 +6447,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('444002', '11q22.2q22.3 microdeletion syndrome', 'Malformation syndrome', '11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.'), ('443995', 'Mandibulofacial dysostosis with alopecia', 'Malformation syndrome', 'no definition available'), ('444048', '46,XX ovarian dysgenesis-short stature syndrome', 'Disease', 'A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.'), -('444013', 'Combined oxidative phosphorylation defect type 23', 'Disease', 'no definition available'), +('444013', 'Combined oxidative phosphorylation defect type 23', 'Disease', 'A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.'), ('444069', 'Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome', 'Malformation syndrome', 'no definition available'), ('444051', '20q11.2 microdeletion syndrome', 'Malformation syndrome', 'A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.'), ('444077', 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome', 'Malformation syndrome', 'no definition available'), @@ -6656,7 +6651,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('219', 'Delta-sarcoglycan-related limb-girdle muscular dystrophy R6', 'Disease', 'A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.'), ('641', 'Multifocal motor neuropathy', 'Disease', 'Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.'), ('119', 'Beta-sarcoglycan-related limb-girdle muscular dystrophy R4', 'Disease', 'A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.'), -('788', 'OBSOLETE: Hereditary resistance to anti-vitamin K', 'Disease', 'no definition available'), ('603', 'Distal myopathy, Welander type', 'Disease', 'A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.'), ('505227', 'Combined immunodeficiency due to GINS1 deficiency', 'Disease', 'no definition available'), ('505237', 'Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome', 'Malformation syndrome', 'no definition available'), @@ -6754,7 +6748,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('74', 'Angiostrongyliasis', 'Disease', 'A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.'), ('108', 'Babesiosis', 'Disease', 'Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.'), ('78', 'Ankylostomiasis', 'Disease', 'A hookworm infection caused primarily by the species Ancylostoma duodenale or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.'), -('500135', 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome', 'Malformation syndrome', 'no definition available'), +('500135', 'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome', 'Malformation syndrome', 'A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.'), ('500144', 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome', 'Malformation syndrome', 'no definition available'), ('500055', '16p13.2 microdeletion syndrome', 'Malformation syndrome', 'A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.'), ('500095', 'Tall stature-intellectual disability-renal anomalies syndrome', 'Malformation syndrome', 'no definition available'), @@ -6943,7 +6937,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('499107', 'Idiopathic optic perineuritis', 'Disease', 'no definition available'), ('563', 'Peripartum cardiomyopathy', 'Disease', 'Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.'), ('764', 'Pyomyositis', 'Disease', 'Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.'), -('499096', 'Isolated optic neuritis', 'Disease', 'no definition available'), +('499096', 'Isolated optic neuritis', 'Disease', 'A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis.'), ('779', 'Reynolds syndrome', 'Disease', 'Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).'), ('499103', 'Recurrent idiopathic neuroretinitis', 'Disease', 'no definition available'), ('838', 'Susac syndrome', 'Disease', 'A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.'), @@ -7004,8 +6998,8 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('480536', 'MSH3-related attenuated familial adenomatous polyposis', 'Clinical subtype', 'no definition available'), ('480531', 'Congenital portosystemic shunt', 'Morphological anomaly', 'Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.'), ('480506', 'Primary intrahepatic lithiasis', 'Disease', 'no definition available'), -('480501', 'Choledochal cyst', 'Morphological anomaly', 'no definition available'), -('480520', 'Caroli syndrome', 'Malformation syndrome', 'no definition available'), +('480501', 'Choledochal cyst', 'Morphological anomaly', 'A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.'), +('480520', 'Caroli syndrome', 'Malformation syndrome', 'A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.'), ('480512', 'Idiopathic ductopenia', 'Disease', 'no definition available'), ('477811', 'Rare hypercholesterolemia', 'Category', 'no definition available'), ('477814', 'Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome', 'Malformation syndrome', 'Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.'), @@ -7014,7 +7008,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('477794', 'Syndromic constitutional thrombocytopenia', 'Category', 'no definition available'), ('477797', 'Isolated constitutional thrombocytopenia', 'Category', 'no definition available'), ('477781', 'Primary condylar hyperplasia', 'Disease', 'no definition available'), -('477787', 'Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder', 'Disease', 'no definition available'), +('477787', 'Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder', 'Disease', 'A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition.'), ('478029', 'Combined oxidative phosphorylation defect type 29', 'Disease', 'no definition available'), ('478042', 'Combined oxidative phosphorylation defect type 30', 'Disease', 'no definition available'), ('477993', 'Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome', 'Malformation syndrome', 'Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.'), @@ -7045,7 +7039,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('476109', 'Axonal hereditary motor and sensory neuropathy', 'Clinical group', 'no definition available'), ('476113', 'Combined immunodeficiency due to TFRC deficiency', 'Disease', 'no definition available'), ('476123', 'Intermediate Charcot-Marie-Tooth disease', 'Clinical group', 'no definition available'), -('476126', 'Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome', 'Malformation syndrome', 'no definition available'), +('476126', 'Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome', 'Malformation syndrome', 'A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others.'), ('476406', 'Congenital generalized hypercontractile muscle stiffness syndrome', 'Disease', 'A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation, and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features.'), ('476394', 'PMP2-related Charcot-Marie-Tooth disease type 1', 'Disease', 'A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.'), ('476403', 'Hypercontractile muscle stiffness syndrome', 'Clinical group', 'no definition available'), @@ -7055,7 +7049,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('488647', 'DDX41-related hematologic malignancy predisposition syndrome', 'Disease', 'no definition available'), ('488650', 'Distal myopathy, Tateyama type', 'Disease', 'Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.'), ('488618', 'Transketolase deficiency', 'Malformation syndrome', 'no definition available'), -('488627', 'Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome', 'Malformation syndrome', 'no definition available'), +('488627', 'Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome', 'Malformation syndrome', 'A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.'), ('488632', 'TBCK-related intellectual disability syndrome', 'Malformation syndrome', 'TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.'), ('488635', 'Early-onset epilepsy-intellectual disability-brain anomalies syndrome', 'Disease', 'A rare congenital disorder of glycosylation characterized by early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism, and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy, and thin corpus callosum.'), ('488265', 'Osteofibrous dysplasia', 'Disease', 'Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.'), @@ -7072,7 +7066,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('488201', 'NON RARE IN EUROPE: Non-small cell lung cancer', 'Disease', 'no definition available'), ('488168', 'Microcephaly-congenital cataract-psoriasiform dermatitis syndrome', 'Malformation syndrome', 'no definition available'), ('488191', 'Female infertility due to oocyte meiotic arrest', 'Disease', 'no definition available'), -('487796', 'Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome', 'Malformation syndrome', 'no definition available'), +('487796', 'Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome', 'Malformation syndrome', 'A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.'), ('487814', 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation', 'Disease', 'A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor.'), ('487809', 'Pediatric collagenous gastritis', 'Disease', 'no definition available'), ('487825', 'Pierpont syndrome', 'Malformation syndrome', 'Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.'), @@ -7090,7 +7084,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('30925', 'Hereditary central diabetes insipidus', 'Clinical subtype', 'Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.'), ('476084', 'BVES-related limb-girdle muscular dystrophy', 'Disease', 'A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.'), ('476096', 'Erythrokeratodermia-cardiomyopathy syndrome', 'Disease', 'Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.'), -('476102', 'Hereditary pediatric Behçet-like disease', 'Disease', 'no definition available'), +('476102', 'Hereditary pediatric Behçet-like disease', 'Disease', 'A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines, variably manifesting with recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis, and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding).'), ('476093', 'Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome', 'Disease', 'A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.'), ('471383', 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome', 'Category', 'no definition available'), ('474347', 'Rare congenital anomaly of ventricular septum', 'Clinical group', 'no definition available'), @@ -7102,7 +7096,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('71272', 'Sandifer syndrome', 'Disease', 'Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.'), ('71273', 'Renal nutcracker syndrome', 'Disease', 'A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices.'), ('71274', 'Disseminated peritoneal leiomyomatosis', 'Disease', 'Disseminated peritoneal leiomyomatosis (DPL) is characterized by the proliferation of multiple benign smooth muscle cell-containing nodules in the peritoneal cavity.'), -('71275', 'Rh deficiency syndrome', 'Disease', 'no definition available'), +('71275', 'Rh deficiency syndrome', 'Disease', 'A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the RHAG gene), while the amorph type is due to mutations at the RH locus itself.'), ('71276', 'Silent sinus syndrome', 'Disease', 'Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.'), ('71277', 'Classic glucose transporter type 1 deficiency syndrome', 'Disease', 'Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.'), ('71209', 'Rare soft tissue tumor', 'Category', 'no definition available'), @@ -7157,7 +7151,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('69077', 'Rhabdoid tumor', 'Disease', 'Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).'), ('69076', 'Familial renal glucosuria', 'Disease', 'A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.'), ('69078', 'Liposarcoma', 'Disease', 'Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.'), -('69061', 'Idiopathic steroid-sensitive nephrotic syndrome', 'Clinical syndrome', 'Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.'), +('69061', 'Idiopathic steroid-sensitive nephrotic syndrome', 'Clinical syndrome', 'A rare primary glomerulopathy of unknown cause characterized by edema, nephrotic-range proteinuria and hypoalbuminemia that responds to standard prednisone treatment within 4-6 weeks.'), ('69063', 'Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization', 'Disease', 'A rare, congenital glomerular disease due to maternal anti-neutral endopeptidase (NEP) alloimmunization characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life.'), ('67048', '3-methylglutaconic aciduria type 4', 'Disease', '3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).'), ('69028', 'Dysostosis with brachydactyly', 'Category', 'Brachydactyly (`short digits`) is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.'), @@ -7174,7 +7168,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('66662', 'Extracutaneous mastocytoma', 'Disease', 'no definition available'), ('67036', 'Autosomal dominant optic atrophy and cataract', 'Disease', 'A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).'), ('66661', 'Mast cell sarcoma', 'Disease', 'Mast cell sarcoma is a rare, neoplastic disease characterized by locally destructive sarcoma-like growth of a solitary mass, composed of atypical mast cells, and without systemic involvement. It can affect any organ and the symptoms depend on the location. Cells are medium to large, pleomorphic or epithelioid, with oval, bilobed or multilobulated nuclei, sometimes prominent multinucleated giant cells. The disease closely resembles other neoplasms and may share associated markers, however the tumor is positive for mast cell tryptase.'), -('66646', 'Cutaneous mastocytosis', 'Clinical group', 'Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis (see this term).'), +('66646', 'Cutaneous mastocytosis', 'Clinical group', 'A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.'), ('66637', 'Diaphanospondylodysostosis', 'Malformation syndrome', 'Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.'), ('66634', 'Dilated cardiomyopathy with ataxia', 'Disease', 'Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.'), ('66633', 'Sensorineural hearing loss-early graying-essential tremor syndrome', 'Malformation syndrome', 'Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.'), @@ -7608,7 +7602,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('35612', 'Nanophthalmos', 'Malformation syndrome', 'A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.'), ('35173', 'X-linked dominant chondrodysplasia punctata', 'Disease', 'A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.'), ('35687', 'Erdheim-Chester disease', 'Disease', 'Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.'), -('35686', 'Serpiginous choroiditis', 'Disease', 'no definition available'), +('35686', 'Serpiginous choroiditis', 'Disease', 'A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes.'), ('35664', 'ALDH18A1-related De Barsy syndrome', 'Etiological subtype', 'A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.'), ('35656', 'Coenzyme Q10 deficiency', 'Clinical group', 'no definition available'), ('35120', 'Hemolytic anemia due to pyrimidine 5` nucleotidase deficiency', 'Disease', 'Hemolytic anemia due to pyrimidine 5` nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.'), @@ -7827,7 +7821,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('42775', 'PHACE syndrome', 'Malformation syndrome', 'PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.'), ('42738', 'Severe congenital neutropenia', 'Clinical group', 'Severe congenital neutropenia is an immunodeficiency characterized by low levels of granulocytes (< 200/mm3) without an associated lymphocyte deficit.'), ('43115', 'Hereditary myopathy with lactic acidosis due to ISCU deficiency', 'Disease', 'A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.'), -('542568', 'Quadricuspid aortic valve', 'Morphological anomaly', 'no definition available'), +('542568', 'Quadricuspid aortic valve', 'Morphological anomaly', 'A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom.'), ('45448', 'Miyoshi myopathy', 'Disease', 'A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.'), ('543470', 'Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome', 'Disease', 'no definition available'), ('45453', 'Incessant infant ventricular tachycardia', 'Disease', 'Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.'), @@ -7893,7 +7887,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('556037', 'Late-onset familial hypoaldosteronism', 'Clinical subtype', 'no definition available'), ('68388', 'OBSOLETE: Neurofibromatosis', 'Clinical group', 'no definition available'), ('556985', 'Early-onset calcifying leukoencephalopathy-skeletal dysplasia', 'Disease', 'A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.'), -('556955', 'Pancreatic agenesis-holoprosencephaly syndrome', 'Disease', 'no definition available'), +('556955', 'Pancreatic agenesis-holoprosencephaly syndrome', 'Disease', 'A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.'), ('556508', 'Rare disorder due to poisoning', 'Category', 'no definition available'), ('68402', 'Rare parkinsonian disorder', 'Category', 'no definition available'), ('557064', 'Neonatal epileptic encephalopathy due to glutaminase deficiency', 'Disease', 'A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.'), @@ -7908,7 +7902,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('519390', 'Isolated blepharochalasis', 'Disease', 'no definition available'), ('519396', 'Isolated microspherophakia', 'Morphological anomaly', 'no definition available'), ('90068', 'Cocaine intoxication', 'Disease', 'A rare disorder due to poisoning characterized by variable combination and dose-dependent severity of clinical manifestations, affecting behavior, central nervous and cardiovascular system. Patients present with euphoria, irritability, agitation, psychosis, hallucinations, paranoia, seizures, decreased responsiveness, mydriasis, tachyarrhythmia, chest pain, and cardiovascular collapse. Sometimes also dyspnea, hypertension, hyperthermia, hypothermia, lack of sleep and serotonin syndrome are present. Severe intoxication may lead to coma and death.'), -('519394', 'Isolated microphakia', 'Morphological anomaly', 'no definition available'), ('90061', 'Non-infectious posterior uveitis', 'Category', 'no definition available'), ('519384', 'Congenital cystic eye', 'Morphological anomaly', 'no definition available'), ('519357', 'OBSOLETE: Syndromic malformation of the optic disc', 'Category', 'no definition available'), @@ -8178,7 +8171,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('521123', 'Radiation-induced plexopathy', 'Disease', 'A rare radiation-induced disorder characterized by impairment of the peripheral nervous system at the level of the brachial or lumbosacral plexus following radiation therapy. Onset of symptoms can occur between several months up to decades after the last dose of radiation. Patients with radiation-induced brachial plexopathy typically present with mostly unilateral progressive paresthesia, followed by weakness, atrophy, and pain. Symptoms in radiation-induced lumbosacral plexopathy include more variable combinations of numbness, paresthesia, pain, and weakness, and are more often bilateral.'), ('521127', 'Osteoradionecrosis of the mandible', 'Disease', 'no definition available'), ('521132', 'Radiation-induced disorder', 'Category', 'no definition available'), -('521219', 'Mirizzi syndrome', 'Clinical syndrome', 'no definition available'), +('521219', 'Mirizzi syndrome', 'Clinical syndrome', 'A rare biliary tract disease characterized by external compression and subsequent obstruction of an extrahepatic biliary duct by one or more gallstones in the cystic duct or the gallbladder. Patients may present with acute or chronic cholecystitis with right upper abdominal pain, nausea, and vomiting, jaundice, or cholangitis. Cholecystobiliary or -enteric fistulae can arise due to chronic inflammation and ulceration.'), ('89043', 'Rare dementia', 'Category', 'no definition available'), ('521232', 'Genetic primary orthostatic disorder', 'Category', 'no definition available'), ('521236', 'Primary orthostatic disorder', 'Category', 'no definition available'), @@ -8229,7 +8222,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('93101', 'Renal hypoplasia', 'Morphological anomaly', 'A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient`s age) with normal corticomedullary differentiation and reduced number of nephrons.'), ('93110', 'Posterior urethral valve', 'Morphological anomaly', 'Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.'), ('93109', 'Congenital megacalycosis', 'Morphological anomaly', 'Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.'), -('527450', 'Severe myopia-generalized joint laxity-short stature syndrome', 'Malformation syndrome', 'no definition available'), +('527450', 'Severe myopia-generalized joint laxity-short stature syndrome', 'Malformation syndrome', 'A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss.'), ('91547', 'Relapsing fever', 'Disease', 'Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease (see this term) belonging to the Borrelia burgdorferi complex.'), ('93100', 'Renal agenesis, unilateral', 'Clinical subtype', 'Unilateral renal agenesis (URA) is a form of renal agenesis (see this term) characterized by the complete absence of development of one kidney accompanied by an absent ureter.'), ('527468', 'Diaphragmatic hernia-short bowel-asplenia syndrome', 'Malformation syndrome', 'no definition available'), @@ -8238,7 +8231,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('93164', 'Transient pseudohypoaldosteronism', 'Disease', 'A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.'), ('93114', 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E', 'Disease', 'A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).'), ('93111', 'HNF1B-related autosomal dominant tubulointerstitial kidney disease', 'Clinical subtype', 'Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.'), -('93126', 'Pauci-immune glomerulonephritis', 'Disease', 'Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN, see this term). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis (see these terms)), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA (see these terms).'), +('93126', 'Pauci-immune glomerulonephritis', 'Disease', 'A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abonormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and the absence of distinguished by the absence of immune depositis on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis.'), ('93177', 'Congenital bilateral megacalycosis', 'Clinical subtype', 'no definition available'), ('93178', 'OBSOLETE: Partial prune belly syndrome', 'Clinical subtype', 'no definition available'), ('93172', 'Renal dysplasia, unilateral', 'Clinical subtype', 'Unilateral renal dysplasia is a form of renal dysplasia (RD; see this term), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.'), @@ -9093,7 +9086,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('95433', 'Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome', 'Disease', 'no definition available'), ('95434', 'Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome', 'Disease', 'A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.'), ('95457', 'Tricuspid valve agenesis', 'Morphological anomaly', 'A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice. It can be isolated or associated with other heart anomalies. Clinical presentation is variable and may include syncope, arrhythmias, cyanosis, right heart dilatation and failure.'), -('95458', 'Tricuspid valve prolapse', 'Morphological anomaly', 'A rare, congenital, non-syndromic heart malformation characterized by bulking of tricuspid valve into the right atrium during systole. It can be isolated, but is more often associated with mitral valve prolapse or with other cardiac and lung diseases. Clinical presentation depends on severity and associated findings and there is a high incidence of cardiac arrhythmias and possible bacterial endocarditis.'), ('95449', 'OBSOLETE: Congenital aortic valve insufficiency', 'Morphological anomaly', 'no definition available'), ('95455', 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum', 'Disease', 'Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.'), ('95462', 'Accessory tricuspid valve tissue', 'Morphological anomaly', 'A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.'), @@ -9414,7 +9406,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('99066', 'OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome', 'Clinical subtype', 'no definition available'), ('99125', 'Congenital total pulmonary venous return anomaly', 'Morphological anomaly', 'Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return (see this term)where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.'), ('99126', 'OBSOLETE: Pulmonary vein atresia', 'Morphological anomaly', 'no definition available'), -('99123', 'Inferior vena cava interruption without azygos continuation', 'Morphological anomaly', 'no definition available'), +('99123', 'Inferior vena cava interruption without azygos continuation', 'Morphological anomaly', 'A rare congenital anomaly of the inferior vena cava characterized by complete interruption of the vessel in which no direct continuity exists between the inferior vena cava and the azygos/hemiazygos system. Clinical manifestations depend on the variant drainage patterns or collaterals and include lower extremity deep vein thrombosis, thromboembolic attacks, leg swelling and pain, lower extremity varices, abdominal pain, intraabdominal varices, and hematochezia, among others. Additional venous abnormalities or cardiac malformations are frequently present.'), ('99124', 'Congenital partial pulmonary venous return anomaly', 'Morphological anomaly', 'Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return (see this term) where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.'), ('99121', 'Azygos continuation of the inferior vena cava', 'Morphological anomaly', 'no definition available'), ('99122', 'Congenital stenosis of the inferior vena cava', 'Morphological anomaly', 'no definition available'), @@ -9429,7 +9421,7 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('99110', 'Right superior vena cava connecting to left-sided atrium', 'Morphological anomaly', 'Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.'), ('99109', 'Persistent left superior vena cava connecting through coronary sinus to left-sided atrium', 'Morphological anomaly', 'Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.'), ('99108', 'NON RARE IN EUROPE: Patent foramen ovale', 'Morphological anomaly', 'no definition available'), -('99107', 'Atrial septal aneurysm', 'Morphological anomaly', 'no definition available'), +('99107', 'Atrial septal aneurysm', 'Morphological anomaly', 'A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.'), ('99106', 'Atrial septal defect, ostium primum type', 'Clinical subtype', 'no definition available'), ('99105', 'Atrial septal defect, sinus venosus type', 'Clinical subtype', 'no definition available'), ('99104', 'Atrial septal defect, coronary sinus type', 'Clinical subtype', 'no definition available'), @@ -9698,7 +9690,6 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('98603', 'OBSOLETE: Secretory apparatus of the lacrimal system anomaly', 'Category', 'no definition available'), ('98604', 'Congenital alacrima', 'Category', 'no definition available'), ('98594', 'Rare eyebrow/eyelash disorder', 'Category', 'no definition available'), -('98593', 'Neurogenic palpebral tumor', 'Disease', 'A rare ophthalmic disorder characterized by origin from peripheral nerves or neuroendocrine cells, and variable clinical features, depending on the type of tumor. The most common benign tumors are plexiform neurofibroma associated with von Recklinghausen disease, solitary neurofibroma, and schwannoma. Malignant tumors are less frequent and include malignant peripheral nerve sheath tumor and Merkel cell tumor.'), ('98592', 'OBSOLETE: Palpebral tumor with a vascular malformation', 'Category', 'no definition available'), ('98591', 'OBSOLETE: Mesenchymatous palpebral tumor', 'Category', 'no definition available'), ('98598', 'OBSOLETE: Congenital absence of the eyebrow/eyelashes', 'Category', 'no definition available'), @@ -10476,5 +10467,5 @@ INSERT INTO Disease VALUES('166024', 'Multiple epiphyseal dysplasia, Al-Gazali t ('99772', 'Cleft velum', 'Morphological anomaly', 'Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.'), ('99771', 'Bifid uvula', 'Morphological anomaly', 'Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.'), ('99777', 'Achalasia-alacrimia syndrome', 'Disease', 'no definition available'), -('99776', 'Mosaic trisomy 9', 'Malformation syndrome', 'Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.') -; +('99776', 'Mosaic trisomy 9', 'Malformation syndrome', 'Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.'), +; \ No newline at end of file diff --git a/Database/insertSymptomInheritance.sql b/Database/insertSymptomInheritance.sql index ef8fc1a..477c13d 100644 --- a/Database/insertSymptomInheritance.sql +++ b/Database/insertSymptomInheritance.sql @@ -1,6 +1,6 @@ USE RareDiagnostics; -INSERT INTO SymptomInheritance VALUES('HP:0001507', 'HP:0000002'), +INSERT INTO SymptomInheritances VALUES('HP:0001507', 'HP:0000002'), ('HP:0000107', 'HP:0000003'), ('HP:0000001', 'HP:0000005'), ('HP:0000005', 'HP:0000006'), diff --git a/Database/insertSymptoms.sql b/Database/insertSymptoms.sql index 6f0edac..31727a1 100644 --- a/Database/insertSymptoms.sql +++ b/Database/insertSymptoms.sql @@ -1,6 +1,6 @@ USE RareDiagnostics; -INSERT INTO Symptom VALUES('HP:0000001', 'All', ''), +INSERT INTO Symptoms VALUES('HP:0000001', 'All', ''), ('HP:0000002', 'Abnormality of body height', 'Deviation from the norm of height with respect to that which is expected according to age and gender norms.'), ('HP:0000003', 'Multicystic kidney dysplasia', 'Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.'), ('HP:0000005', 'Mode of inheritance', 'The pattern in which a particular genetic trait or disorder is passed from one generation to the next.'), diff --git a/Database/schema.sql b/Database/schema.sql index f012546..74eb222 100644 --- a/Database/schema.sql +++ b/Database/schema.sql @@ -1,13 +1,14 @@ CREATE DATABASE IF NOT EXISTS RareDiagnostics; USE RareDiagnostics; -DROP TABLE IF EXISTS Correlation; -DROP TABLE IF EXISTS SymptomInheritance; -DROP TABLE IF EXISTS Symptom; -DROP TABLE IF EXISTS Disease; +DROP TABLE IF EXISTS Correlations; +DROP TABLE IF EXISTS SymptomInheritances; +DROP TABLE IF EXISTS DiseaseSynonyms; +DROP TABLE IF EXISTS Symptoms; +DROP TABLE IF EXISTS Diseases; -CREATE TABLE Disease ( +CREATE TABLE Diseases ( orpha_number VARCHAR(10), disease_name VARCHAR(255), type VARCHAR(100), @@ -15,13 +16,13 @@ CREATE TABLE Disease ( PRIMARY KEY (orpha_number) ); -CREATE TABLE Symptom( +CREATE TABLE Symptoms( id VARCHAR(255), symptom_name VARCHAR(255), definition TEXT, PRIMARY KEY (id) ); -CREATE TABLE Correlation( +CREATE TABLE Correlations( disease_orpha VARCHAR(10), symptom_id VARCHAR(255), frequency FLOAT(3), @@ -29,7 +30,13 @@ CREATE TABLE Correlation( FOREIGN KEY (symptom_id) REFERENCES Symptom(id) ON DELETE CASCADE ); -CREATE TABLE SymptomInheritance( +CREATE TABLE DiseaseSynonyms( + disease_orpha VARCHAR(10), + synonym VARCHAR(255), + FOREIGN KEY (disease_orpha) REFERENCES Disease(orpha_number) ON DELETE CASCADE +); + +CREATE TABLE SymptomInheritances( superclass_id VARCHAR(255), subclass_id VARCHAR(255), FOREIGN KEY (superclass_id) REFERENCES Symptom(id) ON DELETE SET NULL, diff --git a/DistanceAlgorithm/calculate_distance.js b/DistanceAlgorithm/calculate_distance.js deleted file mode 100644 index 385b04a..0000000 --- a/DistanceAlgorithm/calculate_distance.js +++ /dev/null @@ -1,89 +0,0 @@ -var queries = require('./BayesianAlgorithm/queries'); -var q = require('q'); -var database = require('./BayesianAlgorithm/db_connection') -var getdata_controller = require('./BayesianAlgorithm/getData'); -var bayesionmodel = require('./BayesianAlgorithm/bayesionmodel'); -var distance = require('euclidean-distance') - -let inputsymptoms = ['Arthritis', 'Fever', 'Anorexia', 'Immunodeficiency', 'Arthralgia', 'Erythema', 'Neutrophilia', 'Hepatitis','Pharyngitis'] - -queries.getSymptoms(database, q, getdata_controller).then(function(query) { - let symptoms = query; - -queries.getDiseases(database, q, getdata_controller).then(function(query) { - let diseases = query; - -queries.getInheritance(database, q, getdata_controller).then(function(query) { - let inheritance = query; - -queries.getCorrelations(database, q, getdata_controller).then(function(query) { - var correlations = list; - // matrix of diseases and corresponding symptoms - let matrix = getdata_controller.getCorrelationMatrix(correlations); - - var diseaselist = [] - - var input = []; - for (i of inputsymptoms) { - input.push(symptoms.get(i)); - } - - // symptom matrix is a vector of 1.5s - var symptom_vector = [] - for (const symptom of inputsymptoms) {symptom_vector.push(1.5)} - - for (correlation of matrix) { - var disease_vector = [] - - for (const symptom of correlation.slice(1)) { - // symptom = [HP, frequency] - if (input.includes(symptom[0])) { - let frequency = parseFloat(symptom[1]); - if (frequency == 0.895) { - disease_vector.push(3); - } - else if (frequency == 0.545) { - disease_vector.push(2); - } - else if (frequency = 0.17) { - disease_vector.push(1); - } - } - - } - // need to fill in the vectors - - // symptom vector = 5 input symptoms - // disease vector = 3 matches - - // s = 1.5 1.5 1.5 1.5 1.5 - // d = 1 2 3 0 0 - - for (var i=1; i < symptom_vector.length - disease_vector.length; i++ ) { disease_vector.push(0) } - - if (disease_vector[0] != 0) { - var d = (distance(disease_vector, symptom_vector))^(2/500); - diseaselist.push([correlation[0],d]) - } - } - diseaselist.sort(function(a,b){return a[1] - b[1];}); - for (var i=0; i< 10; i++) { - console.log(diseases.get(diseaselist[i][0])); - } - - let count = 0; - - for (var i=0; i< 300; i++) { - count += 1; - if (diseases.get(diseaselist[i][0]) == "Adult-onset Still disease") { - console.log(count) - } - } - - database.end(); - - }); - -}); -}); -}); diff --git a/DistanceAlgorithm/calculate_distance0.js b/DistanceAlgorithm/calculate_distance0.js deleted file mode 100644 index bf3c2d5..0000000 --- a/DistanceAlgorithm/calculate_distance0.js +++ /dev/null @@ -1,94 +0,0 @@ -var queries = require('./BayesianAlgorithm/queries'); -var q = require('q'); -var database = require('./BayesianAlgorithm/db_connection') -var getdata_controller = require('./BayesianAlgorithm/getData'); -var bayesionmodel = require('./BayesianAlgorithm/bayesionmodel'); -var distance = require('euclidean-distance') - -let inputsymptoms = ['Arthritis', 'Fever', 'Anorexia', 'Immunodeficiency', 'Arthralgia', 'Erythema', 'Neutrophilia', 'Hepatitis','Pharyngitis'] - - - -queries.getSymptoms(database, q, getdata_controller).then(function(query) { - let symptoms = query; - -queries.getDiseases(database, q, getdata_controller).then(function(query) { - let diseases = query; - -queries.getInheritance(database, q, getdata_controller).then(function(query) { - let inheritance = query; - -queries.getCorrelations(database, q, getdata_controller).then(function(query) { - var correlations = list; - // matrix of diseases and corresponding symptoms - let matrix = getdata_controller.getCorrelationMatrix(correlations); - - var diseaselist = [] - - var input = []; - for (i of inputsymptoms) { - input.push(symptoms.get(i)); - } - - // symptom matrix is a vector of 1.5s - - for (correlation of matrix) { - var symptom_vector = [] - for (const symptom of inputsymptoms) {symptom_vector.push(1.5)} - var disease_vector = [] - - for (const symptom of correlation.slice(1)) { - // symptom = [HP, frequency] - if (input.includes(symptom[0])) { - let frequency = parseFloat(symptom[1]); - if (frequency == 0.895) { - disease_vector.push(3); - } - else if (frequency == 0.545) { - disease_vector.push(2); - } - else if (frequency = 0.17) { - disease_vector.push(1); - } - } - else { - disease_vector.push(0); - } - - } - - if (disease_vector.length == 0) { - disease_vector.push(0) - } - - for (var i=0; i < (correlation.slice(1).length - input.length); i++ ) {symptom_vector.push(0)} - - - if (disease_vector[0] != 0) { - var d = (distance(disease_vector, symptom_vector))^(2/500); - console.log(d) - diseaselist.push([correlation[0],d]) - } - } - - diseaselist.sort(function(a,b){return a[1] - b[1];}); - for (var i=0; i< 35; i++) { - console.log(diseases.get(diseaselist[i][0])); - } - - let count = 0; - - for (var i=0; i< 35; i++) { - count += 1; - if (diseases.get(diseaselist[i][0]) == "Adult-onset Still disease") { - console.log(count) - } - } - - database.end(); - - }); - -}); -}); -}); diff --git a/DistanceAlgorithm/test.py b/DistanceAlgorithm/test.py deleted file mode 100644 index b74073b..0000000 --- a/DistanceAlgorithm/test.py +++ /dev/null @@ -1 +0,0 @@ -input symptoms = diff --git a/README.md b/README.md index 000937c..eb9cd5a 100644 --- a/README.md +++ b/README.md @@ -1 +1,51 @@ -# RareDiagnosticsAlgorithm \ No newline at end of file +# RareDiagnosticsAlgorithm + +## Running the Application +The application boilerplate was generated using `express-generator`. Run `npm install` to install all the dependencies. You can then start the server with `npm start`. However I recommend installing nodemon: `npm install -g nodemon` and running `nodemon` in the root directory. This will restart the server every time a change is detected. +### The environment variables +Before running the application, make sure you have got the proper environment variables set. Either set them manually on your environment, or create (or edit) +the file `.env` in the root directory. For example the following is my `.env` file. + + NODE_ENV=development + SQL_HOST=localhost + SQL_USER=axel + SQL_PASSWORD=pass + SQL_DB=RareDiagnostics + +The `.env` file is especially practical for us to go from machine to machine, etc... Note however that **in production environment or in the AWS Cloud, this file +will not be read and the environment variables need to be set in the EC2 (or ElasticBeanstalk in our case) instance's configuration.** See for example [this link](https://alexdisler.com/2016/03/26/nodejs-environment-variables-elastic-beanstalk-aws/#:~:text=Elastic%20Beanstalk%20lets%20you%20enter,of%20properties%20you%20can%20configure.) +for examples on how to this. The application expect an additional `IS_AWS` environment variable (which is true or false), which tells us if it is running on the AWS cloud. +This variable is currently set in the existing instances, but don't forget to set it if you create new instances to run this application. + +### Running Single Tests +To run single tests, run the server using `nodemon` (otherwise you'll have to restart manually every time), and require the file you want to run at the bottom of the `app.js` file under Testing Ground. + +## Database Interaction +We are currently using Sequelize v6 to interact with MariaDB. The [documentation](https://sequelize.org/master/index.html) is very complete. The Core Concepts are all relevant. To get started, the most relevant section of the Docs is probably Model Querying - Finders. Understanding the Associations section is important, how to perform Lazy vs. Eager loading. +The center of database interaction in the project is in the file `controllers/DatabaseConnection.js`. Currently the `testConnection` function in that file contains some examples which are commented out. For other places to see how to use Sequelize in the project, check out the file `Algorithms/BayesianAlgorithm/bayesian.js` + +### Flattening an object to JSON +Before passing our database objects to a view, it is best (possibly even necessary) to turn them into JSON. When debugging, it also useful to turn the objects to JSON to see what the data. See the following snippet + + var db = require('controllers/DatabaseConnection') + var symptom = db.Symptom.findByPk('HP:0002077') + + //Bad for display! + console.log(symptom) + + //Good for display and passing to view + console.log(symptom.toJSON()) + +## Adding an Algorithm +Adding an algorithm has never been easier! The `Algorithm` class takes the name of an algorithm and a ranking function. See for example the top of the `index.js` file in `routes/`: + + var bayesian = require('../Algorithms/BayesianAlgorithm/bayesian'); + var Algorithm = require('../controllers/Algorithm') + let bayesian_algorithm = new Algorithm("Bayesian Algorithm", bayesian.likelihoodCalculator); + +The next step is to simply 'register' the algorithm: + + let test_algorithms = [bayesian_algorithm]; //Add other Algorithms to this array. + +The only thing to be careful about is the ranking function: it must take as input a list of symptom names, and return a Promise which will handle an array of +objects of the form `[{score: Float, disease: Disease}]`. This is also mentioned in the `controllers/Algorithm` algorithm file. To see what the rank function returns (concretely), try playing around with the file `Algorithms/BayesianAlgorithm/bayesiantest.js`. diff --git a/Testing/article_scraper.js b/Testing/article_scraper.js index 92dd623..a6153b5 100644 --- a/Testing/article_scraper.js +++ b/Testing/article_scraper.js @@ -2,10 +2,10 @@ var cheerio = require('cheerio'); var request = require('request'); // var read = require('node-readability'); var urlParser = require('url'); -var queries = require('./BayesianAlgorithm/queries'); +var queries = require('../BayesianAlgorithm/queries'); var q = require('q'); -var database = require('./BayesianAlgorithm/db_connection') -var getdata_controller = require('./BayesianAlgorithm/getData'); +var database = require('../BayesianAlgorithm/db_connection') +var getdata_controller = require('../BayesianAlgorithm/getData'); //Very specific scraper, but the code is flexible. Load the 'Case Presentation' section //of a Cureus article. @@ -28,7 +28,6 @@ Scraper.prototype.scrape = function(callback){ if (!error) { var $ = cheerio.load(data); var article = $("div.article-content-body:nth-child(4)"); - console.log(article) var casepresentation = article.text(); console.log(article.text()) callback(null,casepresentation); @@ -54,3 +53,5 @@ scraper.scrape(function(error,data){ console.log(returnsymptoms) }) }) + +module.exports = {Scraper,getSymptomsList} diff --git a/app.js b/app.js new file mode 100644 index 0000000..b6e3043 --- /dev/null +++ b/app.js @@ -0,0 +1,64 @@ +var express = require('express'); +var path = require('path'); +var favicon = require('serve-favicon'); +var logger = require('morgan'); +var cookieParser = require('cookie-parser'); +var bodyParser = require('body-parser'); +var routes = require('./routes/index'); +var users = require('./routes/users'); + +var app = express(); + +// view engine setup +app.set('views', path.join(__dirname, 'views')); +app.set('view engine', 'ejs'); + +// uncomment after placing your favicon in /public +//app.use(favicon(path.join(__dirname, 'public', 'favicon.ico'))); +app.use(logger('dev')); +app.use(bodyParser.json()); +app.use(bodyParser.urlencoded({ extended: false })); +app.use(cookieParser()); +app.use(express.static(path.join(__dirname, 'public'))); + +app.use('/', routes); +app.use('/users', users); + +// catch 404 and forward to error handler +app.use(function(req, res, next) { + var err = new Error('Not Found'); + err.status = 404; + next(err); +}); + +// error handlers + +// development error handler +// will print stacktrace +if (app.get('env') === 'development') { + app.use(function(err, req, res, next) { + res.status(err.status || 500); + res.render('error', { + message: err.message, + error: err + }); + }); +} + +// production error handler +// no stacktraces leaked to user +app.use(function(err, req, res, next) { + res.status(err.status || 500); + res.render('error', { + message: err.message, + error: {} + }); +}); + +//Testing Ground + +//Just calling require will run the code automatically. This code is run every time +// the server is started. +//var bayesianTest = require('./Algorithms/BayesianAlgorithm/bayesiantest') +var distanceTest = require('./Algorithms/test.js') +module.exports = app; diff --git a/bin/www b/bin/www new file mode 100755 index 0000000..7c65148 --- /dev/null +++ b/bin/www @@ -0,0 +1,90 @@ +#!/usr/bin/env node + +/** + * Module dependencies. + */ + +var app = require('../app'); +var debug = require('debug')('RareDiagnosticsAlgorithm:server'); +var http = require('http'); + +/** + * Get port from environment and store in Express. + */ + +var port = normalizePort(process.env.PORT || '3000'); +app.set('port', port); + +/** + * Create HTTP server. + */ + +var server = http.createServer(app); + +/** + * Listen on provided port, on all network interfaces. + */ + +server.listen(port); +server.on('error', onError); +server.on('listening', onListening); + +/** + * Normalize a port into a number, string, or false. + */ + +function normalizePort(val) { + var port = parseInt(val, 10); + + if (isNaN(port)) { + // named pipe + return val; + } + + if (port >= 0) { + // port number + return port; + } + + return false; +} + +/** + * Event listener for HTTP server "error" event. + */ + +function onError(error) { + if (error.syscall !== 'listen') { + throw error; + } + + var bind = typeof port === 'string' + ? 'Pipe ' + port + : 'Port ' + port; + + // handle specific listen errors with friendly messages + switch (error.code) { + case 'EACCES': + console.error(bind + ' requires elevated privileges'); + process.exit(1); + break; + case 'EADDRINUSE': + console.error(bind + ' is already in use'); + process.exit(1); + break; + default: + throw error; + } +} + +/** + * Event listener for HTTP server "listening" event. + */ + +function onListening() { + var addr = server.address(); + var bind = typeof addr === 'string' + ? 'pipe ' + addr + : 'port ' + addr.port; + debug('Listening on ' + bind); +} diff --git a/controllers/Algorithm.js b/controllers/Algorithm.js new file mode 100644 index 0000000..0757917 --- /dev/null +++ b/controllers/Algorithm.js @@ -0,0 +1,14 @@ +//Class for an Algorithm. + +// This class is just a blueprint for a generic algorithm. +// Using this will allows for swift testing/adding/deleting of algorithms. +// Name: Displayed name of the alogorithm. +// rankFunction: The function which performs the search and returns results (unsorted). +// input: AlgorithmQuery structure (see below for example) +// returns: a Promise which hands of over an array [{score: Float, disease: Disease}]. +var Algorithm = function(name, rankFunction) { + this.name = name; + this.rank = rankFunction; +} + +module.exports = Algorithm diff --git a/controllers/DatabaseConnection.js b/controllers/DatabaseConnection.js new file mode 100644 index 0000000..fbdcd32 --- /dev/null +++ b/controllers/DatabaseConnection.js @@ -0,0 +1,189 @@ +const { Sequelize,DataTypes } = require('sequelize'); + +//Check that we are not in production environment or in the AWS cloud. +//In these cases, the environment variables should be set on the machine +if (process.env.NODE_ENV != 'prod' && !process.env.IS_AWS) { + require('dotenv').config(); +} + +// Option 2: Passing parameters separately (other dialects) +const sequelize = new Sequelize('RareDiagnostics', process.env.SQL_USER, process.env.SQL_PASSWORD, { + host: process.env.SQL_HOST, + dialect: 'mariadb', + logging: false, + + // Avoid auto-pluralization + define: { + timestamps: false + } +}); + +//Now we define the Model +const Disease = sequelize.define('Disease',{ + orpha_number: { + type: DataTypes.STRING(10), + primaryKey: true + }, + + disease_name: { + type: DataTypes.STRING(255) + }, + + type: { + type: DataTypes.STRING(100) + }, + + definition: { + type: DataTypes.TEXT + }, +}) + +const Symptom = sequelize.define('Symptom',{ + id: { + type: DataTypes.STRING, + primaryKey: true + }, + + symptom_name: { + type: DataTypes.STRING + }, + + definition: { + type: DataTypes.TEXT + } +}) + +const Correlation = sequelize.define('Correlation',{ + disease_orpha: { + type: DataTypes.STRING, + references: { + model: Disease, + key: 'orpha_number' + } + }, + + symptom_id: { + type: DataTypes.STRING, + references: { + model: Symptom, + key: 'id' + } + }, + + frequency: { + type: DataTypes.FLOAT(3) + } +}) + +const SymptomInheritance = sequelize.define('SymptomInheritance', { + superclass_id: { + type: DataTypes.STRING, + references: { + model: Symptom, + key: 'id' + } + }, + + subclass_id: { + type: DataTypes.STRING, + references: { + model: Symptom, + key: 'id' + } + } +}) + +const TestCase = sequelize.define('TestCase',{ + origin: { + type: DataTypes.STRING + }, + + origin_url: { + type: DataTypes.STRING(1024) + }, + + disease_orpha: { + type: DataTypes.STRING + }, + + symptoms_list: { + type: DataTypes.STRING(1024) + } +}) + +TestCase.sync() + +//Define associations. +Disease.belongsToMany(Symptom, {through: 'Correlation', foreignKey: 'disease_orpha'}); +Symptom.belongsToMany(Disease, {through: 'Correlation', foreignKey: 'symptom_id'}); + +//Careful about this line: the symptom is the child of another symptom through the superclass ID. +Symptom.belongsToMany(Symptom,{through: 'SymptomInheritance', as: 'Children', foreignKey:'superclass_id', onDelete: 'SET NULL'}); + +Symptom.belongsToMany(Symptom,{through: 'SymptomInheritance', as: 'Parents', foreignKey:'subclass_id', onDelete: 'SET NULL'}); + +async function getParentSymptoms(input_symptoms) { + return Symptom.findAll({ + include: { + model: Symptom, + as: 'Children', + where: { + symptom_name:{ + [Op.in]: input_symptoms + } + } + } + }) +} + +async function getParentSymptoms(input_symptoms) { + const {Op} = require('sequelize'); + return Symptom.findAll({ + include: { + model: Symptom, + as: 'Children', + where: { + symptom_name:{ + [Op.in]: input_symptoms + } + } + } + }) +} + +//Test connection +async function testConnection(){ + await sequelize.authenticate(); + console.log('Connection to RareDiagnostics DB has been established successfully.'); + // const test_disease = await Disease.findOne({ + // where:{ + // orpha_number: '564' + // }, + // include: Symptom + // }) + // console.log(test_disease.disease_name); + // console.log(test_disease.Symptoms) + // let symptoms = await test_disease.getSymptoms().catch((err)=> console.log(err)) + + // const migrainewaura = await Symptom.findOne({where: {id: 'HP:0002083'}}) + // let parent_symptoms = await migrainewaura.getParent(); + // console.log(migrainewaura) + // console.log(parent_symptoms) + // console.log(symptoms[0].toJSON()) +} +try { + testConnection() +} catch (error) { + console.error('Unable to connect to the database:', error); +} + + +module.exports = { + sequelize: sequelize, + Disease: Disease, + Symptom: Symptom, + Correlation: Correlation, + SymptomInheritance: SymptomInheritance, + getParentSymptoms, + Op: sequelize.Op +}; diff --git a/node_modules/bignumber.js/CHANGELOG.md b/node_modules/bignumber.js/CHANGELOG.md deleted file mode 100644 index e288a93..0000000 --- a/node_modules/bignumber.js/CHANGELOG.md +++ /dev/null @@ -1,266 +0,0 @@ -#### 9.0.0 -* 27/05/2019 -* For compatibility with legacy browsers, remove `Symbol` references. - -#### 8.1.1 -* 24/02/2019 -* [BUGFIX] #222 Restore missing `var` to `export BigNumber`. -* Allow any key in BigNumber.Instance in *bignumber.d.ts*. - -#### 8.1.0 -* 23/02/2019 -* [NEW FEATURE] #220 Create a BigNumber using `{s, e, c}`. -* [NEW FEATURE] `isBigNumber`: if `BigNumber.DEBUG` is `true`, also check that the BigNumber instance is well-formed. -* Remove `instanceof` checks; just use `_isBigNumber` to identify a BigNumber instance. -* Add `_isBigNumber` to prototype in *bignumber.mjs*. -* Add tests for BigNumber creation from object. -* Update *API.html*. - -#### 8.0.2 -* 13/01/2019 -* #209 `toPrecision` without argument should follow `toString`. -* Improve *Use* section of *README*. -* Optimise `toString(10)`. -* Add verson number to API doc. - -#### 8.0.1 -* 01/11/2018 -* Rest parameter must be array type in *bignumber.d.ts*. - -#### 8.0.0 -* 01/11/2018 -* [NEW FEATURE] Add `BigNumber.sum` method. -* [NEW FEATURE]`toFormat`: add `prefix` and `suffix` options. -* [NEW FEATURE] #178 Pass custom formatting to `toFormat`. -* [BREAKING CHANGE] #184 `toFraction`: return array of BigNumbers not strings. -* [NEW FEATURE] #185 Enable overwrite of `valueOf` to prevent accidental addition to string. -* #183 Add Node.js `crypto` requirement to documentation. -* [BREAKING CHANGE] #198 Disallow signs and whitespace in custom alphabet. -* [NEW FEATURE] #188 Implement `util.inspect.custom` for Node.js REPL. -* #170 Make `isBigNumber` a type guard in *bignumber.d.ts*. -* [BREAKING CHANGE] `BigNumber.min` and `BigNumber.max`: don't accept an array. -* Update *.travis.yml*. -* Remove *bower.json*. - -#### 7.2.1 -* 24/05/2018 -* Add `browser` field to *package.json*. - -#### 7.2.0 -* 22/05/2018 -* #166 Correct *.mjs* file. Remove extension from `main` field in *package.json*. - -#### 7.1.0 -* 18/05/2018 -* Add `module` field to *package.json* for *bignumber.mjs*. - -#### 7.0.2 -* 17/05/2018 -* #165 Bugfix: upper-case letters for bases 11-36 in a custom alphabet. -* Add note to *README* regarding creating BigNumbers from Number values. - -#### 7.0.1 -* 26/04/2018 -* #158 Fix global object variable name typo. - -#### 7.0.0 -* 26/04/2018 -* #143 Remove global BigNumber from typings. -* #144 Enable compatibility with `Object.freeze(Object.prototype)`. -* #148 #123 #11 Only throw on a number primitive with more than 15 significant digits if `BigNumber.DEBUG` is `true`. -* Only throw on an invalid BigNumber value if `BigNumber.DEBUG` is `true`. Return BigNumber `NaN` instead. -* #154 `exponentiatedBy`: allow BigNumber exponent. -* #156 Prevent Content Security Policy *unsafe-eval* issue. -* `toFraction`: allow `Infinity` maximum denominator. -* Comment-out some excess tests to reduce test time. -* Amend indentation and other spacing. - -#### 6.0.0 -* 26/01/2018 -* #137 Implement `APLHABET` configuration option. -* Remove `ERRORS` configuration option. -* Remove `toDigits` method; extend `precision` method accordingly. -* Remove s`round` method; extend `decimalPlaces` method accordingly. -* Remove methods: `ceil`, `floor`, and `truncated`. -* Remove method aliases: `add`, `cmp`, `isInt`, `isNeg`, `trunc`, `mul`, `neg` and `sub`. -* Rename methods: `shift` to `shiftedBy`, `another` to `clone`, `toPower` to `exponentiatedBy`, and `equals` to `isEqualTo`. -* Rename methods: add `is` prefix to `greaterThan`, `greaterThanOrEqualTo`, `lessThan` and `lessThanOrEqualTo`. -* Add methods: `multipliedBy`, `isBigNumber`, `isPositive`, `integerValue`, `maximum` and `minimum`. -* Refactor test suite. -* Add *CHANGELOG.md*. -* Rewrite *bignumber.d.ts*. -* Redo API image. - -#### 5.0.0 -* 27/11/2017 -* #81 Don't throw on constructor call without `new`. - -#### 4.1.0 -* 26/09/2017 -* Remove node 0.6 from *.travis.yml*. -* Add *bignumber.mjs*. - -#### 4.0.4 -* 03/09/2017 -* Add missing aliases to *bignumber.d.ts*. - -#### 4.0.3 -* 30/08/2017 -* Add types: *bignumber.d.ts*. - -#### 4.0.2 -* 03/05/2017 -* #120 Workaround Safari/Webkit bug. - -#### 4.0.1 -* 05/04/2017 -* #121 BigNumber.default to BigNumber['default']. - -#### 4.0.0 -* 09/01/2017 -* Replace BigNumber.isBigNumber method with isBigNumber prototype property. - -#### 3.1.2 -* 08/01/2017 -* Minor documentation edit. - -#### 3.1.1 -* 08/01/2017 -* Uncomment `isBigNumber` tests. -* Ignore dot files. - -#### 3.1.0 -* 08/01/2017 -* Add `isBigNumber` method. - -#### 3.0.2 -* 08/01/2017 -* Bugfix: Possible incorrect value of `ERRORS` after a `BigNumber.another` call (due to `parseNumeric` declaration in outer scope). - -#### 3.0.1 -* 23/11/2016 -* Apply fix for old ipads with `%` issue, see #57 and #102. -* Correct error message. - -#### 3.0.0 -* 09/11/2016 -* Remove `require('crypto')` - leave it to the user. -* Add `BigNumber.set` as `BigNumber.config` alias. -* Default `POW_PRECISION` to `0`. - -#### 2.4.0 -* 14/07/2016 -* #97 Add exports to support ES6 imports. - -#### 2.3.0 -* 07/03/2016 -* #86 Add modulus parameter to `toPower`. - -#### 2.2.0 -* 03/03/2016 -* #91 Permit larger JS integers. - -#### 2.1.4 -* 15/12/2015 -* Correct UMD. - -#### 2.1.3 -* 13/12/2015 -* Refactor re global object and crypto availability when bundling. - -#### 2.1.2 -* 10/12/2015 -* Bugfix: `window.crypto` not assigned to `crypto`. - -#### 2.1.1 -* 09/12/2015 -* Prevent code bundler from adding `crypto` shim. - -#### 2.1.0 -* 26/10/2015 -* For `valueOf` and `toJSON`, include the minus sign with negative zero. - -#### 2.0.8 -* 2/10/2015 -* Internal round function bugfix. - -#### 2.0.6 -* 31/03/2015 -* Add bower.json. Tweak division after in-depth review. - -#### 2.0.5 -* 25/03/2015 -* Amend README. Remove bitcoin address. - -#### 2.0.4 -* 25/03/2015 -* Critical bugfix #58: division. - -#### 2.0.3 -* 18/02/2015 -* Amend README. Add source map. - -#### 2.0.2 -* 18/02/2015 -* Correct links. - -#### 2.0.1 -* 18/02/2015 -* Add `max`, `min`, `precision`, `random`, `shiftedBy`, `toDigits` and `truncated` methods. -* Add the short-forms: `add`, `mul`, `sd`, `sub` and `trunc`. -* Add an `another` method to enable multiple independent constructors to be created. -* Add support for the base 2, 8 and 16 prefixes `0b`, `0o` and `0x`. -* Enable a rounding mode to be specified as a second parameter to `toExponential`, `toFixed`, `toFormat` and `toPrecision`. -* Add a `CRYPTO` configuration property so cryptographically-secure pseudo-random number generation can be specified. -* Add a `MODULO_MODE` configuration property to enable the rounding mode used by the `modulo` operation to be specified. -* Add a `POW_PRECISION` configuration property to enable the number of significant digits calculated by the power operation to be limited. -* Improve code quality. -* Improve documentation. - -#### 2.0.0 -* 29/12/2014 -* Add `dividedToIntegerBy`, `isInteger` and `toFormat` methods. -* Remove the following short-forms: `isF`, `isZ`, `toE`, `toF`, `toFr`, `toN`, `toP`, `toS`. -* Store a BigNumber's coefficient in base 1e14, rather than base 10. -* Add fast path for integers to BigNumber constructor. -* Incorporate the library into the online documentation. - -#### 1.5.0 -* 13/11/2014 -* Add `toJSON` and `decimalPlaces` methods. - -#### 1.4.1 -* 08/06/2014 -* Amend README. - -#### 1.4.0 -* 08/05/2014 -* Add `toNumber`. - -#### 1.3.0 -* 08/11/2013 -* Ensure correct rounding of `sqrt` in all, rather than almost all, cases. -* Maximum radix to 64. - -#### 1.2.1 -* 17/10/2013 -* Sign of zero when x < 0 and x + (-x) = 0. - -#### 1.2.0 -* 19/9/2013 -* Throw Error objects for stack. - -#### 1.1.1 -* 22/8/2013 -* Show original value in constructor error message. - -#### 1.1.0 -* 1/8/2013 -* Allow numbers with trailing radix point. - -#### 1.0.1 -* Bugfix: error messages with incorrect method name - -#### 1.0.0 -* 8/11/2012 -* Initial release diff --git a/node_modules/bignumber.js/LICENCE b/node_modules/bignumber.js/LICENCE deleted file mode 100644 index 87a9b15..0000000 --- a/node_modules/bignumber.js/LICENCE +++ /dev/null @@ -1,23 +0,0 @@ -The MIT Licence. - -Copyright (c) 2019 Michael Mclaughlin - -Permission is hereby granted, free of charge, to any person obtaining -a copy of this software and associated documentation files (the -'Software'), to deal in the Software without restriction, including -without limitation the rights to use, copy, modify, merge, publish, -distribute, sublicense, and/or sell copies of the Software, and to -permit persons to whom the Software is furnished to do so, subject to -the following conditions: - -The above copyright notice and this permission notice shall be -included in all copies or substantial portions of the Software. - -THE SOFTWARE IS PROVIDED 'AS IS', WITHOUT WARRANTY OF ANY KIND, -EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF -MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. -IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY -CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION OF CONTRACT, -TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE -SOFTWARE OR THE USE OR OTHER DEALINGS IN THE SOFTWARE. - diff --git a/node_modules/bignumber.js/README.md b/node_modules/bignumber.js/README.md deleted file mode 100644 index fc3c84c..0000000 --- a/node_modules/bignumber.js/README.md +++ /dev/null @@ -1,268 +0,0 @@ -![bignumber.js](https://raw.githubusercontent.com/MikeMcl/bignumber.js/gh-pages/bignumberjs.png) - -A JavaScript library for arbitrary-precision decimal and non-decimal arithmetic. - -[![Build Status](https://travis-ci.org/MikeMcl/bignumber.js.svg)](https://travis-ci.org/MikeMcl/bignumber.js) - -
- -## Features - - - Integers and decimals - - Simple API but full-featured - - Faster, smaller, and perhaps easier to use than JavaScript versions of Java's BigDecimal - - 8 KB minified and gzipped - - Replicates the `toExponential`, `toFixed`, `toPrecision` and `toString` methods of JavaScript's Number type - - Includes a `toFraction` and a correctly-rounded `squareRoot` method - - Supports cryptographically-secure pseudo-random number generation - - No dependencies - - Wide platform compatibility: uses JavaScript 1.5 (ECMAScript 3) features only - - Comprehensive [documentation](http://mikemcl.github.io/bignumber.js/) and test set - -![API](https://raw.githubusercontent.com/MikeMcl/bignumber.js/gh-pages/API.png) - -If a smaller and simpler library is required see [big.js](https://github.com/MikeMcl/big.js/). -It's less than half the size but only works with decimal numbers and only has half the methods. -It also does not allow `NaN` or `Infinity`, or have the configuration options of this library. - -See also [decimal.js](https://github.com/MikeMcl/decimal.js/), which among other things adds support for non-integer powers, and performs all operations to a specified number of significant digits. - -## Load - -The library is the single JavaScript file *bignumber.js* (or minified, *bignumber.min.js*). - -Browser: - -```html - -``` - -[Node.js](http://nodejs.org): - -```bash -$ npm install bignumber.js -``` - -```javascript -const BigNumber = require('bignumber.js'); -``` - -ES6 module: - -```javascript -import BigNumber from "./bignumber.mjs" -``` - -AMD loader libraries such as [requireJS](http://requirejs.org/): - -```javascript -require(['bignumber'], function(BigNumber) { - // Use BigNumber here in local scope. No global BigNumber. -}); -``` - -## Use - -The library exports a single constructor function, [`BigNumber`](http://mikemcl.github.io/bignumber.js/#bignumber), which accepts a value of type Number, String or BigNumber, - -```javascript -let x = new BigNumber(123.4567); -let y = BigNumber('123456.7e-3'); -let z = new BigNumber(x); -x.isEqualTo(y) && y.isEqualTo(z) && x.isEqualTo(z); // true -``` - -To get the string value of a BigNumber use [`toString()`](http://mikemcl.github.io/bignumber.js/#toS) or [`toFixed()`](http://mikemcl.github.io/bignumber.js/#toFix). Using `toFixed()` prevents exponential notation being returned, no matter how large or small the value. - -```javascript -let x = new BigNumber('1111222233334444555566'); -x.toString(); // "1.111222233334444555566e+21" -x.toFixed(); // "1111222233334444555566" -``` - -If the limited precision of Number values is not well understood, it is recommended to create BigNumbers from String values rather than Number values to avoid a potential loss of precision. - -*In all further examples below, `let`, semicolons and `toString` calls are not shown. If a commented-out value is in quotes it means `toString` has been called on the preceding expression.* - -```javascript -// Precision loss from using numeric literals with more than 15 significant digits. -new BigNumber(1.0000000000000001) // '1' -new BigNumber(88259496234518.57) // '88259496234518.56' -new BigNumber(99999999999999999999) // '100000000000000000000' - -// Precision loss from using numeric literals outside the range of Number values. -new BigNumber(2e+308) // 'Infinity' -new BigNumber(1e-324) // '0' - -// Precision loss from the unexpected result of arithmetic with Number values. -new BigNumber(0.7 + 0.1) // '0.7999999999999999' -``` - -When creating a BigNumber from a Number, note that a BigNumber is created from a Number's decimal `toString()` value not from its underlying binary value. If the latter is required, then pass the Number's `toString(2)` value and specify base 2. - -```javascript -new BigNumber(Number.MAX_VALUE.toString(2), 2) -``` - -BigNumbers can be created from values in bases from 2 to 36. See [`ALPHABET`](http://mikemcl.github.io/bignumber.js/#alphabet) to extend this range. - -```javascript -a = new BigNumber(1011, 2) // "11" -b = new BigNumber('zz.9', 36) // "1295.25" -c = a.plus(b) // "1306.25" -``` - -Performance is better if base 10 is NOT specified for decimal values. Only specify base 10 when it is desired that the number of decimal places of the input value be limited to the current [`DECIMAL_PLACES`](http://mikemcl.github.io/bignumber.js/#decimal-places) setting. - -A BigNumber is immutable in the sense that it is not changed by its methods. - -```javascript -0.3 - 0.1 // 0.19999999999999998 -x = new BigNumber(0.3) -x.minus(0.1) // "0.2" -x // "0.3" -``` - -The methods that return a BigNumber can be chained. - -```javascript -x.dividedBy(y).plus(z).times(9) -x.times('1.23456780123456789e+9').plus(9876.5432321).dividedBy('4444562598.111772').integerValue() -``` - -Some of the longer method names have a shorter alias. - -```javascript -x.squareRoot().dividedBy(y).exponentiatedBy(3).isEqualTo(x.sqrt().div(y).pow(3)) // true -x.modulo(y).multipliedBy(z).eq(x.mod(y).times(z)) // true -``` - -As with JavaScript's Number type, there are [`toExponential`](http://mikemcl.github.io/bignumber.js/#toE), [`toFixed`](http://mikemcl.github.io/bignumber.js/#toFix) and [`toPrecision`](http://mikemcl.github.io/bignumber.js/#toP) methods. - -```javascript -x = new BigNumber(255.5) -x.toExponential(5) // "2.55500e+2" -x.toFixed(5) // "255.50000" -x.toPrecision(5) // "255.50" -x.toNumber() // 255.5 -``` - - A base can be specified for [`toString`](http://mikemcl.github.io/bignumber.js/#toS). Performance is better if base 10 is NOT specified, i.e. use `toString()` not `toString(10)`. Only specify base 10 when it is desired that the number of decimal places be limited to the current [`DECIMAL_PLACES`](http://mikemcl.github.io/bignumber.js/#decimal-places) setting. - - ```javascript - x.toString(16) // "ff.8" - ``` - -There is a [`toFormat`](http://mikemcl.github.io/bignumber.js/#toFor) method which may be useful for internationalisation. - -```javascript -y = new BigNumber('1234567.898765') -y.toFormat(2) // "1,234,567.90" -``` - -The maximum number of decimal places of the result of an operation involving division (i.e. a division, square root, base conversion or negative power operation) is set using the `set` or `config` method of the `BigNumber` constructor. - -The other arithmetic operations always give the exact result. - -```javascript -BigNumber.set({ DECIMAL_PLACES: 10, ROUNDING_MODE: 4 }) - -x = new BigNumber(2) -y = new BigNumber(3) -z = x.dividedBy(y) // "0.6666666667" -z.squareRoot() // "0.8164965809" -z.exponentiatedBy(-3) // "3.3749999995" -z.toString(2) // "0.1010101011" -z.multipliedBy(z) // "0.44444444448888888889" -z.multipliedBy(z).decimalPlaces(10) // "0.4444444445" -``` - -There is a [`toFraction`](http://mikemcl.github.io/bignumber.js/#toFr) method with an optional *maximum denominator* argument - -```javascript -y = new BigNumber(355) -pi = y.dividedBy(113) // "3.1415929204" -pi.toFraction() // [ "7853982301", "2500000000" ] -pi.toFraction(1000) // [ "355", "113" ] -``` - -and [`isNaN`](http://mikemcl.github.io/bignumber.js/#isNaN) and [`isFinite`](http://mikemcl.github.io/bignumber.js/#isF) methods, as `NaN` and `Infinity` are valid `BigNumber` values. - -```javascript -x = new BigNumber(NaN) // "NaN" -y = new BigNumber(Infinity) // "Infinity" -x.isNaN() && !y.isNaN() && !x.isFinite() && !y.isFinite() // true -``` - -The value of a BigNumber is stored in a decimal floating point format in terms of a coefficient, exponent and sign. - -```javascript -x = new BigNumber(-123.456); -x.c // [ 123, 45600000000000 ] coefficient (i.e. significand) -x.e // 2 exponent -x.s // -1 sign -``` - -For advanced usage, multiple BigNumber constructors can be created, each with their own independent configuration. - -```javascript -// Set DECIMAL_PLACES for the original BigNumber constructor -BigNumber.set({ DECIMAL_PLACES: 10 }) - -// Create another BigNumber constructor, optionally passing in a configuration object -BN = BigNumber.clone({ DECIMAL_PLACES: 5 }) - -x = new BigNumber(1) -y = new BN(1) - -x.div(3) // '0.3333333333' -y.div(3) // '0.33333' -``` - -For further information see the [API](http://mikemcl.github.io/bignumber.js/) reference in the *doc* directory. - -## Test - -The *test/modules* directory contains the test scripts for each method. - -The tests can be run with Node.js or a browser. For Node.js use - - $ npm test - -or - - $ node test/test - -To test a single method, use, for example - - $ node test/methods/toFraction - -For the browser, open *test/test.html*. - -## Build - -For Node, if [uglify-js](https://github.com/mishoo/UglifyJS2) is installed - - npm install uglify-js -g - -then - - npm run build - -will create *bignumber.min.js*. - -A source map will also be created in the root directory. - -## Feedback - -Open an issue, or email - -Michael - -M8ch88l@gmail.com - -## Licence - -The MIT Licence. - -See [LICENCE](https://github.com/MikeMcl/bignumber.js/blob/master/LICENCE). diff --git a/node_modules/bignumber.js/bignumber.d.ts b/node_modules/bignumber.js/bignumber.d.ts deleted file mode 100644 index ac6a3e4..0000000 --- a/node_modules/bignumber.js/bignumber.d.ts +++ /dev/null @@ -1,1829 +0,0 @@ -// Type definitions for bignumber.js >=8.1.0 -// Project: https://github.com/MikeMcl/bignumber.js -// Definitions by: Michael Mclaughlin -// Definitions: https://github.com/MikeMcl/bignumber.js - -// Documentation: http://mikemcl.github.io/bignumber.js/ -// -// Exports: -// -// class BigNumber (default export) -// type BigNumber.Constructor -// type BigNumber.ModuloMode -// type BigNumber.RoundingMOde -// type BigNumber.Value -// interface BigNumber.Config -// interface BigNumber.Format -// interface BigNumber.Instance -// -// Example: -// -// import {BigNumber} from "bignumber.js" -// //import BigNumber from "bignumber.js" -// -// let rm: BigNumber.RoundingMode = BigNumber.ROUND_UP; -// let f: BigNumber.Format = { decimalSeparator: ',' }; -// let c: BigNumber.Config = { DECIMAL_PLACES: 4, ROUNDING_MODE: rm, FORMAT: f }; -// BigNumber.config(c); -// -// let v: BigNumber.Value = '12345.6789'; -// let b: BigNumber = new BigNumber(v); -// -// The use of compiler option `--strictNullChecks` is recommended. - -export default BigNumber; - -export namespace BigNumber { - - /** See `BigNumber.config` (alias `BigNumber.set`) and `BigNumber.clone`. */ - interface Config { - - /** - * An integer, 0 to 1e+9. Default value: 20. - * - * The maximum number of decimal places of the result of operations involving division, i.e. - * division, square root and base conversion operations, and exponentiation when the exponent is - * negative. - * - * ```ts - * BigNumber.config({ DECIMAL_PLACES: 5 }) - * BigNumber.set({ DECIMAL_PLACES: 5 }) - * ``` - */ - DECIMAL_PLACES?: number; - - /** - * An integer, 0 to 8. Default value: `BigNumber.ROUND_HALF_UP` (4). - * - * The rounding mode used in operations that involve division (see `DECIMAL_PLACES`) and the - * default rounding mode of the `decimalPlaces`, `precision`, `toExponential`, `toFixed`, - * `toFormat` and `toPrecision` methods. - * - * The modes are available as enumerated properties of the BigNumber constructor. - * - * ```ts - * BigNumber.config({ ROUNDING_MODE: 0 }) - * BigNumber.set({ ROUNDING_MODE: BigNumber.ROUND_UP }) - * ``` - */ - ROUNDING_MODE?: BigNumber.RoundingMode; - - /** - * An integer, 0 to 1e+9, or an array, [-1e+9 to 0, 0 to 1e+9]. - * Default value: `[-7, 20]`. - * - * The exponent value(s) at which `toString` returns exponential notation. - * - * If a single number is assigned, the value is the exponent magnitude. - * - * If an array of two numbers is assigned then the first number is the negative exponent value at - * and beneath which exponential notation is used, and the second number is the positive exponent - * value at and above which exponential notation is used. - * - * For example, to emulate JavaScript numbers in terms of the exponent values at which they begin - * to use exponential notation, use `[-7, 20]`. - * - * ```ts - * BigNumber.config({ EXPONENTIAL_AT: 2 }) - * new BigNumber(12.3) // '12.3' e is only 1 - * new BigNumber(123) // '1.23e+2' - * new BigNumber(0.123) // '0.123' e is only -1 - * new BigNumber(0.0123) // '1.23e-2' - * - * BigNumber.config({ EXPONENTIAL_AT: [-7, 20] }) - * new BigNumber(123456789) // '123456789' e is only 8 - * new BigNumber(0.000000123) // '1.23e-7' - * - * // Almost never return exponential notation: - * BigNumber.config({ EXPONENTIAL_AT: 1e+9 }) - * - * // Always return exponential notation: - * BigNumber.config({ EXPONENTIAL_AT: 0 }) - * ``` - * - * Regardless of the value of `EXPONENTIAL_AT`, the `toFixed` method will always return a value in - * normal notation and the `toExponential` method will always return a value in exponential form. - * Calling `toString` with a base argument, e.g. `toString(10)`, will also always return normal - * notation. - */ - EXPONENTIAL_AT?: number | [number, number]; - - /** - * An integer, magnitude 1 to 1e+9, or an array, [-1e+9 to -1, 1 to 1e+9]. - * Default value: `[-1e+9, 1e+9]`. - * - * The exponent value(s) beyond which overflow to Infinity and underflow to zero occurs. - * - * If a single number is assigned, it is the maximum exponent magnitude: values wth a positive - * exponent of greater magnitude become Infinity and those with a negative exponent of greater - * magnitude become zero. - * - * If an array of two numbers is assigned then the first number is the negative exponent limit and - * the second number is the positive exponent limit. - * - * For example, to emulate JavaScript numbers in terms of the exponent values at which they - * become zero and Infinity, use [-324, 308]. - * - * ```ts - * BigNumber.config({ RANGE: 500 }) - * BigNumber.config().RANGE // [ -500, 500 ] - * new BigNumber('9.999e499') // '9.999e+499' - * new BigNumber('1e500') // 'Infinity' - * new BigNumber('1e-499') // '1e-499' - * new BigNumber('1e-500') // '0' - * - * BigNumber.config({ RANGE: [-3, 4] }) - * new BigNumber(99999) // '99999' e is only 4 - * new BigNumber(100000) // 'Infinity' e is 5 - * new BigNumber(0.001) // '0.01' e is only -3 - * new BigNumber(0.0001) // '0' e is -4 - * ``` - * The largest possible magnitude of a finite BigNumber is 9.999...e+1000000000. - * The smallest possible magnitude of a non-zero BigNumber is 1e-1000000000. - */ - RANGE?: number | [number, number]; - - /** - * A boolean: `true` or `false`. Default value: `false`. - * - * The value that determines whether cryptographically-secure pseudo-random number generation is - * used. If `CRYPTO` is set to true then the random method will generate random digits using - * `crypto.getRandomValues` in browsers that support it, or `crypto.randomBytes` if using a - * version of Node.js that supports it. - * - * If neither function is supported by the host environment then attempting to set `CRYPTO` to - * `true` will fail and an exception will be thrown. - * - * If `CRYPTO` is `false` then the source of randomness used will be `Math.random` (which is - * assumed to generate at least 30 bits of randomness). - * - * See `BigNumber.random`. - * - * ```ts - * // Node.js - * global.crypto = require('crypto') - * - * BigNumber.config({ CRYPTO: true }) - * BigNumber.config().CRYPTO // true - * BigNumber.random() // 0.54340758610486147524 - * ``` - */ - CRYPTO?: boolean; - - /** - * An integer, 0, 1, 3, 6 or 9. Default value: `BigNumber.ROUND_DOWN` (1). - * - * The modulo mode used when calculating the modulus: `a mod n`. - * The quotient, `q = a / n`, is calculated according to the `ROUNDING_MODE` that corresponds to - * the chosen `MODULO_MODE`. - * The remainder, `r`, is calculated as: `r = a - n * q`. - * - * The modes that are most commonly used for the modulus/remainder operation are shown in the - * following table. Although the other rounding modes can be used, they may not give useful - * results. - * - * Property | Value | Description - * :------------------|:------|:------------------------------------------------------------------ - * `ROUND_UP` | 0 | The remainder is positive if the dividend is negative. - * `ROUND_DOWN` | 1 | The remainder has the same sign as the dividend. - * | | Uses 'truncating division' and matches JavaScript's `%` operator . - * `ROUND_FLOOR` | 3 | The remainder has the same sign as the divisor. - * | | This matches Python's `%` operator. - * `ROUND_HALF_EVEN` | 6 | The IEEE 754 remainder function. - * `EUCLID` | 9 | The remainder is always positive. - * | | Euclidian division: `q = sign(n) * floor(a / abs(n))` - * - * The rounding/modulo modes are available as enumerated properties of the BigNumber constructor. - * - * See `modulo`. - * - * ```ts - * BigNumber.config({ MODULO_MODE: BigNumber.EUCLID }) - * BigNumber.set({ MODULO_MODE: 9 }) // equivalent - * ``` - */ - MODULO_MODE?: BigNumber.ModuloMode; - - /** - * An integer, 0 to 1e+9. Default value: 0. - * - * The maximum precision, i.e. number of significant digits, of the result of the power operation - * - unless a modulus is specified. - * - * If set to 0, the number of significant digits will not be limited. - * - * See `exponentiatedBy`. - * - * ```ts - * BigNumber.config({ POW_PRECISION: 100 }) - * ``` - */ - POW_PRECISION?: number; - - /** - * An object including any number of the properties shown below. - * - * The object configures the format of the string returned by the `toFormat` method. - * The example below shows the properties of the object that are recognised, and - * their default values. - * - * Unlike the other configuration properties, the values of the properties of the `FORMAT` object - * will not be checked for validity - the existing object will simply be replaced by the object - * that is passed in. - * - * See `toFormat`. - * - * ```ts - * BigNumber.config({ - * FORMAT: { - * // string to prepend - * prefix: '', - * // the decimal separator - * decimalSeparator: '.', - * // the grouping separator of the integer part - * groupSeparator: ',', - * // the primary grouping size of the integer part - * groupSize: 3, - * // the secondary grouping size of the integer part - * secondaryGroupSize: 0, - * // the grouping separator of the fraction part - * fractionGroupSeparator: ' ', - * // the grouping size of the fraction part - * fractionGroupSize: 0, - * // string to append - * suffix: '' - * } - * }) - * ``` - */ - FORMAT?: BigNumber.Format; - - /** - * The alphabet used for base conversion. The length of the alphabet corresponds to the maximum - * value of the base argument that can be passed to the BigNumber constructor or `toString`. - * - * Default value: `'0123456789abcdefghijklmnopqrstuvwxyz'`. - * - * There is no maximum length for the alphabet, but it must be at least 2 characters long, - * and it must not contain whitespace or a repeated character, or the sign indicators '+' and - * '-', or the decimal separator '.'. - * - * ```ts - * // duodecimal (base 12) - * BigNumber.config({ ALPHABET: '0123456789TE' }) - * x = new BigNumber('T', 12) - * x.toString() // '10' - * x.toString(12) // 'T' - * ``` - */ - ALPHABET?: string; - } - - /** See `FORMAT` and `toFormat`. */ - interface Format { - - /** The string to prepend. */ - prefix?: string; - - /** The decimal separator. */ - decimalSeparator?: string; - - /** The grouping separator of the integer part. */ - groupSeparator?: string; - - /** The primary grouping size of the integer part. */ - groupSize?: number; - - /** The secondary grouping size of the integer part. */ - secondaryGroupSize?: number; - - /** The grouping separator of the fraction part. */ - fractionGroupSeparator?: string; - - /** The grouping size of the fraction part. */ - fractionGroupSize?: number; - - /** The string to append. */ - suffix?: string; - } - - interface Instance { - - /** The coefficient of the value of this BigNumber, an array of base 1e14 integer numbers, or null. */ - readonly c: number[] | null; - - /** The exponent of the value of this BigNumber, an integer number, -1000000000 to 1000000000, or null. */ - readonly e: number | null; - - /** The sign of the value of this BigNumber, -1, 1, or null. */ - readonly s: number | null; - - [key: string]: any; - } - - type Constructor = typeof BigNumber; - type ModuloMode = 0 | 1 | 3 | 6 | 9; - type RoundingMode = 0 | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8; - type Value = string | number | Instance; -} - -export declare class BigNumber implements BigNumber.Instance { - - /** Used internally to identify a BigNumber instance. */ - private readonly _isBigNumber: true; - - /** The coefficient of the value of this BigNumber, an array of base 1e14 integer numbers, or null. */ - readonly c: number[] | null; - - /** The exponent of the value of this BigNumber, an integer number, -1000000000 to 1000000000, or null. */ - readonly e: number | null; - - /** The sign of the value of this BigNumber, -1, 1, or null. */ - readonly s: number | null; - - /** - * Returns a new instance of a BigNumber object with value `n`, where `n` is a numeric value in - * the specified `base`, or base 10 if `base` is omitted or is `null` or `undefined`. - * - * ```ts - * x = new BigNumber(123.4567) // '123.4567' - * // 'new' is optional - * y = BigNumber(x) // '123.4567' - * ``` - * - * If `n` is a base 10 value it can be in normal (fixed-point) or exponential notation. - * Values in other bases must be in normal notation. Values in any base can have fraction digits, - * i.e. digits after the decimal point. - * - * ```ts - * new BigNumber(43210) // '43210' - * new BigNumber('4.321e+4') // '43210' - * new BigNumber('-735.0918e-430') // '-7.350918e-428' - * new BigNumber('123412421.234324', 5) // '607236.557696' - * ``` - * - * Signed `0`, signed `Infinity` and `NaN` are supported. - * - * ```ts - * new BigNumber('-Infinity') // '-Infinity' - * new BigNumber(NaN) // 'NaN' - * new BigNumber(-0) // '0' - * new BigNumber('.5') // '0.5' - * new BigNumber('+2') // '2' - * ``` - * - * String values in hexadecimal literal form, e.g. `'0xff'`, are valid, as are string values with - * the octal and binary prefixs `'0o'` and `'0b'`. String values in octal literal form without the - * prefix will be interpreted as decimals, e.g. `'011'` is interpreted as 11, not 9. - * - * ```ts - * new BigNumber(-10110100.1, 2) // '-180.5' - * new BigNumber('-0b10110100.1') // '-180.5' - * new BigNumber('ff.8', 16) // '255.5' - * new BigNumber('0xff.8') // '255.5' - * ``` - * - * If a base is specified, `n` is rounded according to the current `DECIMAL_PLACES` and - * `ROUNDING_MODE` settings. This includes base 10, so don't include a `base` parameter for decimal - * values unless this behaviour is desired. - * - * ```ts - * BigNumber.config({ DECIMAL_PLACES: 5 }) - * new BigNumber(1.23456789) // '1.23456789' - * new BigNumber(1.23456789, 10) // '1.23457' - * ``` - * - * An error is thrown if `base` is invalid. - * - * There is no limit to the number of digits of a value of type string (other than that of - * JavaScript's maximum array size). See `RANGE` to set the maximum and minimum possible exponent - * value of a BigNumber. - * - * ```ts - * new BigNumber('5032485723458348569331745.33434346346912144534543') - * new BigNumber('4.321e10000000') - * ``` - * - * BigNumber `NaN` is returned if `n` is invalid (unless `BigNumber.DEBUG` is `true`, see below). - * - * ```ts - * new BigNumber('.1*') // 'NaN' - * new BigNumber('blurgh') // 'NaN' - * new BigNumber(9, 2) // 'NaN' - * ``` - * - * To aid in debugging, if `BigNumber.DEBUG` is `true` then an error will be thrown on an - * invalid `n`. An error will also be thrown if `n` is of type number with more than 15 - * significant digits, as calling `toString` or `valueOf` on these numbers may not result in the - * intended value. - * - * ```ts - * console.log(823456789123456.3) // 823456789123456.2 - * new BigNumber(823456789123456.3) // '823456789123456.2' - * BigNumber.DEBUG = true - * // 'Error: Number has more than 15 significant digits' - * new BigNumber(823456789123456.3) - * // 'Error: Not a base 2 number' - * new BigNumber(9, 2) - * ``` - * - * A BigNumber can also be created from an object literal. - * Use `isBigNumber` to check that it is well-formed. - * - * ```ts - * new BigNumber({ s: 1, e: 2, c: [ 777, 12300000000000 ], _isBigNumber: true }) // '777.123' - * ``` - * - * @param n A numeric value. - * @param base The base of `n`, integer, 2 to 36 (or `ALPHABET.length`, see `ALPHABET`). - */ - constructor(n: BigNumber.Value, base?: number); - - /** - * Returns a BigNumber whose value is the absolute value, i.e. the magnitude, of the value of this - * BigNumber. - * - * The return value is always exact and unrounded. - * - * ```ts - * x = new BigNumber(-0.8) - * x.absoluteValue() // '0.8' - * ``` - */ - absoluteValue(): BigNumber; - - /** - * Returns a BigNumber whose value is the absolute value, i.e. the magnitude, of the value of this - * BigNumber. - * - * The return value is always exact and unrounded. - * - * ```ts - * x = new BigNumber(-0.8) - * x.abs() // '0.8' - * ``` - */ - abs(): BigNumber; - - /** - * Returns | | - * :-------:|:--------------------------------------------------------------| - * 1 | If the value of this BigNumber is greater than the value of `n` - * -1 | If the value of this BigNumber is less than the value of `n` - * 0 | If this BigNumber and `n` have the same value - * `null` | If the value of either this BigNumber or `n` is `NaN` - * - * ```ts - * - * x = new BigNumber(Infinity) - * y = new BigNumber(5) - * x.comparedTo(y) // 1 - * x.comparedTo(x.minus(1)) // 0 - * y.comparedTo(NaN) // null - * y.comparedTo('110', 2) // -1 - * ``` - * @param n A numeric value. - * @param [base] The base of n. - */ - comparedTo(n: BigNumber.Value, base?: number): number; - - /** - * Returns a BigNumber whose value is the value of this BigNumber rounded by rounding mode - * `roundingMode` to a maximum of `decimalPlaces` decimal places. - * - * If `decimalPlaces` is omitted, or is `null` or `undefined`, the return value is the number of - * decimal places of the value of this BigNumber, or `null` if the value of this BigNumber is - * ±`Infinity` or `NaN`. - * - * If `roundingMode` is omitted, or is `null` or `undefined`, `ROUNDING_MODE` is used. - * - * Throws if `decimalPlaces` or `roundingMode` is invalid. - * - * ```ts - * x = new BigNumber(1234.56) - * x.decimalPlaces() // 2 - * x.decimalPlaces(1) // '1234.6' - * x.decimalPlaces(2) // '1234.56' - * x.decimalPlaces(10) // '1234.56' - * x.decimalPlaces(0, 1) // '1234' - * x.decimalPlaces(0, 6) // '1235' - * x.decimalPlaces(1, 1) // '1234.5' - * x.decimalPlaces(1, BigNumber.ROUND_HALF_EVEN) // '1234.6' - * x // '1234.56' - * y = new BigNumber('9.9e-101') - * y.decimalPlaces() // 102 - * ``` - * - * @param [decimalPlaces] Decimal places, integer, 0 to 1e+9. - * @param [roundingMode] Rounding mode, integer, 0 to 8. - */ - decimalPlaces(): number; - decimalPlaces(decimalPlaces: number, roundingMode?: BigNumber.RoundingMode): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber rounded by rounding mode - * `roundingMode` to a maximum of `decimalPlaces` decimal places. - * - * If `decimalPlaces` is omitted, or is `null` or `undefined`, the return value is the number of - * decimal places of the value of this BigNumber, or `null` if the value of this BigNumber is - * ±`Infinity` or `NaN`. - * - * If `roundingMode` is omitted, or is `null` or `undefined`, `ROUNDING_MODE` is used. - * - * Throws if `decimalPlaces` or `roundingMode` is invalid. - * - * ```ts - * x = new BigNumber(1234.56) - * x.dp() // 2 - * x.dp(1) // '1234.6' - * x.dp(2) // '1234.56' - * x.dp(10) // '1234.56' - * x.dp(0, 1) // '1234' - * x.dp(0, 6) // '1235' - * x.dp(1, 1) // '1234.5' - * x.dp(1, BigNumber.ROUND_HALF_EVEN) // '1234.6' - * x // '1234.56' - * y = new BigNumber('9.9e-101') - * y.dp() // 102 - * ``` - * - * @param [decimalPlaces] Decimal places, integer, 0 to 1e+9. - * @param [roundingMode] Rounding mode, integer, 0 to 8. - */ - dp(): number; - dp(decimalPlaces: number, roundingMode?: BigNumber.RoundingMode): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber divided by `n`, rounded - * according to the current `DECIMAL_PLACES` and `ROUNDING_MODE` settings. - * - * ```ts - * x = new BigNumber(355) - * y = new BigNumber(113) - * x.dividedBy(y) // '3.14159292035398230088' - * x.dividedBy(5) // '71' - * x.dividedBy(47, 16) // '5' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - dividedBy(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber divided by `n`, rounded - * according to the current `DECIMAL_PLACES` and `ROUNDING_MODE` settings. - * - * ```ts - * x = new BigNumber(355) - * y = new BigNumber(113) - * x.div(y) // '3.14159292035398230088' - * x.div(5) // '71' - * x.div(47, 16) // '5' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - div(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the integer part of dividing the value of this BigNumber by - * `n`. - * - * ```ts - * x = new BigNumber(5) - * y = new BigNumber(3) - * x.dividedToIntegerBy(y) // '1' - * x.dividedToIntegerBy(0.7) // '7' - * x.dividedToIntegerBy('0.f', 16) // '5' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - dividedToIntegerBy(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the integer part of dividing the value of this BigNumber by - * `n`. - * - * ```ts - * x = new BigNumber(5) - * y = new BigNumber(3) - * x.idiv(y) // '1' - * x.idiv(0.7) // '7' - * x.idiv('0.f', 16) // '5' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - idiv(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber exponentiated by `n`, i.e. - * raised to the power `n`, and optionally modulo a modulus `m`. - * - * If `n` is negative the result is rounded according to the current `DECIMAL_PLACES` and - * `ROUNDING_MODE` settings. - * - * As the number of digits of the result of the power operation can grow so large so quickly, - * e.g. 123.456**10000 has over 50000 digits, the number of significant digits calculated is - * limited to the value of the `POW_PRECISION` setting (unless a modulus `m` is specified). - * - * By default `POW_PRECISION` is set to 0. This means that an unlimited number of significant - * digits will be calculated, and that the method's performance will decrease dramatically for - * larger exponents. - * - * If `m` is specified and the value of `m`, `n` and this BigNumber are integers and `n` is - * positive, then a fast modular exponentiation algorithm is used, otherwise the operation will - * be performed as `x.exponentiatedBy(n).modulo(m)` with a `POW_PRECISION` of 0. - * - * Throws if `n` is not an integer. - * - * ```ts - * Math.pow(0.7, 2) // 0.48999999999999994 - * x = new BigNumber(0.7) - * x.exponentiatedBy(2) // '0.49' - * BigNumber(3).exponentiatedBy(-2) // '0.11111111111111111111' - * ``` - * - * @param n The exponent, an integer. - * @param [m] The modulus. - */ - exponentiatedBy(n: BigNumber.Value, m?: BigNumber.Value): BigNumber; - exponentiatedBy(n: number, m?: BigNumber.Value): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber exponentiated by `n`, i.e. - * raised to the power `n`, and optionally modulo a modulus `m`. - * - * If `n` is negative the result is rounded according to the current `DECIMAL_PLACES` and - * `ROUNDING_MODE` settings. - * - * As the number of digits of the result of the power operation can grow so large so quickly, - * e.g. 123.456**10000 has over 50000 digits, the number of significant digits calculated is - * limited to the value of the `POW_PRECISION` setting (unless a modulus `m` is specified). - * - * By default `POW_PRECISION` is set to 0. This means that an unlimited number of significant - * digits will be calculated, and that the method's performance will decrease dramatically for - * larger exponents. - * - * If `m` is specified and the value of `m`, `n` and this BigNumber are integers and `n` is - * positive, then a fast modular exponentiation algorithm is used, otherwise the operation will - * be performed as `x.pow(n).modulo(m)` with a `POW_PRECISION` of 0. - * - * Throws if `n` is not an integer. - * - * ```ts - * Math.pow(0.7, 2) // 0.48999999999999994 - * x = new BigNumber(0.7) - * x.pow(2) // '0.49' - * BigNumber(3).pow(-2) // '0.11111111111111111111' - * ``` - * - * @param n The exponent, an integer. - * @param [m] The modulus. - */ - pow(n: BigNumber.Value, m?: BigNumber.Value): BigNumber; - pow(n: number, m?: BigNumber.Value): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber rounded to an integer using - * rounding mode `rm`. - * - * If `rm` is omitted, or is `null` or `undefined`, `ROUNDING_MODE` is used. - * - * Throws if `rm` is invalid. - * - * ```ts - * x = new BigNumber(123.456) - * x.integerValue() // '123' - * x.integerValue(BigNumber.ROUND_CEIL) // '124' - * y = new BigNumber(-12.7) - * y.integerValue() // '-13' - * x.integerValue(BigNumber.ROUND_DOWN) // '-12' - * ``` - * - * @param {BigNumber.RoundingMode} [rm] The roundng mode, an integer, 0 to 8. - */ - integerValue(rm?: BigNumber.RoundingMode): BigNumber; - - /** - * Returns `true` if the value of this BigNumber is equal to the value of `n`, otherwise returns - * `false`. - * - * As with JavaScript, `NaN` does not equal `NaN`. - * - * ```ts - * 0 === 1e-324 // true - * x = new BigNumber(0) - * x.isEqualTo('1e-324') // false - * BigNumber(-0).isEqualTo(x) // true ( -0 === 0 ) - * BigNumber(255).isEqualTo('ff', 16) // true - * - * y = new BigNumber(NaN) - * y.isEqualTo(NaN) // false - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - isEqualTo(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is equal to the value of `n`, otherwise returns - * `false`. - * - * As with JavaScript, `NaN` does not equal `NaN`. - * - * ```ts - * 0 === 1e-324 // true - * x = new BigNumber(0) - * x.eq('1e-324') // false - * BigNumber(-0).eq(x) // true ( -0 === 0 ) - * BigNumber(255).eq('ff', 16) // true - * - * y = new BigNumber(NaN) - * y.eq(NaN) // false - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - eq(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is a finite number, otherwise returns `false`. - * - * The only possible non-finite values of a BigNumber are `NaN`, `Infinity` and `-Infinity`. - * - * ```ts - * x = new BigNumber(1) - * x.isFinite() // true - * y = new BigNumber(Infinity) - * y.isFinite() // false - * ``` - */ - isFinite(): boolean; - - /** - * Returns `true` if the value of this BigNumber is greater than the value of `n`, otherwise - * returns `false`. - * - * ```ts - * 0.1 > (0.3 - 0.2) // true - * x = new BigNumber(0.1) - * x.isGreaterThan(BigNumber(0.3).minus(0.2)) // false - * BigNumber(0).isGreaterThan(x) // false - * BigNumber(11, 3).isGreaterThan(11.1, 2) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - isGreaterThan(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is greater than the value of `n`, otherwise - * returns `false`. - * - * ```ts - * 0.1 > (0.3 - 0 // true - * x = new BigNumber(0.1) - * x.gt(BigNumber(0.3).minus(0.2)) // false - * BigNumber(0).gt(x) // false - * BigNumber(11, 3).gt(11.1, 2) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - gt(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is greater than or equal to the value of `n`, - * otherwise returns `false`. - * - * ```ts - * (0.3 - 0.2) >= 0.1 // false - * x = new BigNumber(0.3).minus(0.2) - * x.isGreaterThanOrEqualTo(0.1) // true - * BigNumber(1).isGreaterThanOrEqualTo(x) // true - * BigNumber(10, 18).isGreaterThanOrEqualTo('i', 36) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - isGreaterThanOrEqualTo(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is greater than or equal to the value of `n`, - * otherwise returns `false`. - * - * ```ts - * (0.3 - 0.2) >= 0.1 // false - * x = new BigNumber(0.3).minus(0.2) - * x.gte(0.1) // true - * BigNumber(1).gte(x) // true - * BigNumber(10, 18).gte('i', 36) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - gte(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is an integer, otherwise returns `false`. - * - * ```ts - * x = new BigNumber(1) - * x.isInteger() // true - * y = new BigNumber(123.456) - * y.isInteger() // false - * ``` - */ - isInteger(): boolean; - - /** - * Returns `true` if the value of this BigNumber is less than the value of `n`, otherwise returns - * `false`. - * - * ```ts - * (0.3 - 0.2) < 0.1 // true - * x = new BigNumber(0.3).minus(0.2) - * x.isLessThan(0.1) // false - * BigNumber(0).isLessThan(x) // true - * BigNumber(11.1, 2).isLessThan(11, 3) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - isLessThan(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is less than the value of `n`, otherwise returns - * `false`. - * - * ```ts - * (0.3 - 0.2) < 0.1 // true - * x = new BigNumber(0.3).minus(0.2) - * x.lt(0.1) // false - * BigNumber(0).lt(x) // true - * BigNumber(11.1, 2).lt(11, 3) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - lt(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is less than or equal to the value of `n`, - * otherwise returns `false`. - * - * ```ts - * 0.1 <= (0.3 - 0.2) // false - * x = new BigNumber(0.1) - * x.isLessThanOrEqualTo(BigNumber(0.3).minus(0.2)) // true - * BigNumber(-1).isLessThanOrEqualTo(x) // true - * BigNumber(10, 18).isLessThanOrEqualTo('i', 36) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - isLessThanOrEqualTo(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is less than or equal to the value of `n`, - * otherwise returns `false`. - * - * ```ts - * 0.1 <= (0.3 - 0.2) // false - * x = new BigNumber(0.1) - * x.lte(BigNumber(0.3).minus(0.2)) // true - * BigNumber(-1).lte(x) // true - * BigNumber(10, 18).lte('i', 36) // true - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - lte(n: BigNumber.Value, base?: number): boolean; - - /** - * Returns `true` if the value of this BigNumber is `NaN`, otherwise returns `false`. - * - * ```ts - * x = new BigNumber(NaN) - * x.isNaN() // true - * y = new BigNumber('Infinity') - * y.isNaN() // false - * ``` - */ - isNaN(): boolean; - - /** - * Returns `true` if the value of this BigNumber is negative, otherwise returns `false`. - * - * ```ts - * x = new BigNumber(-0) - * x.isNegative() // true - * y = new BigNumber(2) - * y.isNegative() // false - * ``` - */ - isNegative(): boolean; - - /** - * Returns `true` if the value of this BigNumber is positive, otherwise returns `false`. - * - * ```ts - * x = new BigNumber(-0) - * x.isPositive() // false - * y = new BigNumber(2) - * y.isPositive() // true - * ``` - */ - isPositive(): boolean; - - /** - * Returns `true` if the value of this BigNumber is zero or minus zero, otherwise returns `false`. - * - * ```ts - * x = new BigNumber(-0) - * x.isZero() // true - * ``` - */ - isZero(): boolean; - - /** - * Returns a BigNumber whose value is the value of this BigNumber minus `n`. - * - * The return value is always exact and unrounded. - * - * ```ts - * 0.3 - 0.1 // 0.19999999999999998 - * x = new BigNumber(0.3) - * x.minus(0.1) // '0.2' - * x.minus(0.6, 20) // '0' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - minus(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber modulo `n`, i.e. the integer - * remainder of dividing this BigNumber by `n`. - * - * The value returned, and in particular its sign, is dependent on the value of the `MODULO_MODE` - * setting of this BigNumber constructor. If it is 1 (default value), the result will have the - * same sign as this BigNumber, and it will match that of Javascript's `%` operator (within the - * limits of double precision) and BigDecimal's `remainder` method. - * - * The return value is always exact and unrounded. - * - * See `MODULO_MODE` for a description of the other modulo modes. - * - * ```ts - * 1 % 0.9 // 0.09999999999999998 - * x = new BigNumber(1) - * x.modulo(0.9) // '0.1' - * y = new BigNumber(33) - * y.modulo('a', 33) // '3' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - modulo(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber modulo `n`, i.e. the integer - * remainder of dividing this BigNumber by `n`. - * - * The value returned, and in particular its sign, is dependent on the value of the `MODULO_MODE` - * setting of this BigNumber constructor. If it is 1 (default value), the result will have the - * same sign as this BigNumber, and it will match that of Javascript's `%` operator (within the - * limits of double precision) and BigDecimal's `remainder` method. - * - * The return value is always exact and unrounded. - * - * See `MODULO_MODE` for a description of the other modulo modes. - * - * ```ts - * 1 % 0.9 // 0.09999999999999998 - * x = new BigNumber(1) - * x.mod(0.9) // '0.1' - * y = new BigNumber(33) - * y.mod('a', 33) // '3' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - mod(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber multiplied by `n`. - * - * The return value is always exact and unrounded. - * - * ```ts - * 0.6 * 3 // 1.7999999999999998 - * x = new BigNumber(0.6) - * y = x.multipliedBy(3) // '1.8' - * BigNumber('7e+500').multipliedBy(y) // '1.26e+501' - * x.multipliedBy('-a', 16) // '-6' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - multipliedBy(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber multiplied by `n`. - * - * The return value is always exact and unrounded. - * - * ```ts - * 0.6 * 3 // 1.7999999999999998 - * x = new BigNumber(0.6) - * y = x.times(3) // '1.8' - * BigNumber('7e+500').times(y) // '1.26e+501' - * x.times('-a', 16) // '-6' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - times(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber negated, i.e. multiplied by -1. - * - * ```ts - * x = new BigNumber(1.8) - * x.negated() // '-1.8' - * y = new BigNumber(-1.3) - * y.negated() // '1.3' - * ``` - */ - negated(): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber plus `n`. - * - * The return value is always exact and unrounded. - * - * ```ts - * 0.1 + 0.2 // 0.30000000000000004 - * x = new BigNumber(0.1) - * y = x.plus(0.2) // '0.3' - * BigNumber(0.7).plus(x).plus(y) // '1' - * x.plus('0.1', 8) // '0.225' - * ``` - * - * @param n A numeric value. - * @param [base] The base of n. - */ - plus(n: BigNumber.Value, base?: number): BigNumber; - - /** - * Returns the number of significant digits of the value of this BigNumber, or `null` if the value - * of this BigNumber is ±`Infinity` or `NaN`. - * - * If `includeZeros` is true then any trailing zeros of the integer part of the value of this - * BigNumber are counted as significant digits, otherwise they are not. - * - * Throws if `includeZeros` is invalid. - * - * ```ts - * x = new BigNumber(9876.54321) - * x.precision() // 9 - * y = new BigNumber(987000) - * y.precision(false) // 3 - * y.precision(true) // 6 - * ``` - * - * @param [includeZeros] Whether to include integer trailing zeros in the significant digit count. - */ - precision(includeZeros?: boolean): number; - - /** - * Returns a BigNumber whose value is the value of this BigNumber rounded to a precision of - * `significantDigits` significant digits using rounding mode `roundingMode`. - * - * If `roundingMode` is omitted or is `null` or `undefined`, `ROUNDING_MODE` will be used. - * - * Throws if `significantDigits` or `roundingMode` is invalid. - * - * ```ts - * x = new BigNumber(9876.54321) - * x.precision(6) // '9876.54' - * x.precision(6, BigNumber.ROUND_UP) // '9876.55' - * x.precision(2) // '9900' - * x.precision(2, 1) // '9800' - * x // '9876.54321' - * ``` - * - * @param significantDigits Significant digits, integer, 1 to 1e+9. - * @param [roundingMode] Rounding mode, integer, 0 to 8. - */ - precision(significantDigits: number, roundingMode?: BigNumber.RoundingMode): BigNumber; - - /** - * Returns the number of significant digits of the value of this BigNumber, - * or `null` if the value of this BigNumber is ±`Infinity` or `NaN`. - * - * If `includeZeros` is true then any trailing zeros of the integer part of - * the value of this BigNumber are counted as significant digits, otherwise - * they are not. - * - * Throws if `includeZeros` is invalid. - * - * ```ts - * x = new BigNumber(9876.54321) - * x.sd() // 9 - * y = new BigNumber(987000) - * y.sd(false) // 3 - * y.sd(true) // 6 - * ``` - * - * @param [includeZeros] Whether to include integer trailing zeros in the significant digit count. - */ - sd(includeZeros?: boolean): number; - - /** - * Returns a BigNumber whose value is the value of this BigNumber rounded to a precision of - * `significantDigits` significant digits using rounding mode `roundingMode`. - * - * If `roundingMode` is omitted or is `null` or `undefined`, `ROUNDING_MODE` will be used. - * - * Throws if `significantDigits` or `roundingMode` is invalid. - * - * ```ts - * x = new BigNumber(9876.54321) - * x.sd(6) // '9876.54' - * x.sd(6, BigNumber.ROUND_UP) // '9876.55' - * x.sd(2) // '9900' - * x.sd(2, 1) // '9800' - * x // '9876.54321' - * ``` - * - * @param significantDigits Significant digits, integer, 1 to 1e+9. - * @param [roundingMode] Rounding mode, integer, 0 to 8. - */ - sd(significantDigits: number, roundingMode?: BigNumber.RoundingMode): BigNumber; - - /** - * Returns a BigNumber whose value is the value of this BigNumber shifted by `n` places. - * - * The shift is of the decimal point, i.e. of powers of ten, and is to the left if `n` is negative - * or to the right if `n` is positive. - * - * The return value is always exact and unrounded. - * - * Throws if `n` is invalid. - * - * ```ts - * x = new BigNumber(1.23) - * x.shiftedBy(3) // '1230' - * x.shiftedBy(-3) // '0.00123' - * ``` - * - * @param n The shift value, integer, -9007199254740991 to 9007199254740991. - */ - shiftedBy(n: number): BigNumber; - - /** - * Returns a BigNumber whose value is the square root of the value of this BigNumber, rounded - * according to the current `DECIMAL_PLACES` and `ROUNDING_MODE` settings. - * - * The return value will be correctly rounded, i.e. rounded as if the result was first calculated - * to an infinite number of correct digits before rounding. - * - * ```ts - * x = new BigNumber(16) - * x.squareRoot() // '4' - * y = new BigNumber(3) - * y.squareRoot() // '1.73205080756887729353' - * ``` - */ - squareRoot(): BigNumber; - - /** - * Returns a BigNumber whose value is the square root of the value of this BigNumber, rounded - * according to the current `DECIMAL_PLACES` and `ROUNDING_MODE` settings. - * - * The return value will be correctly rounded, i.e. rounded as if the result was first calculated - * to an infinite number of correct digits before rounding. - * - * ```ts - * x = new BigNumber(16) - * x.sqrt() // '4' - * y = new BigNumber(3) - * y.sqrt() // '1.73205080756887729353' - * ``` - */ - sqrt(): BigNumber; - - /** - * Returns a string representing the value of this BigNumber in exponential notation rounded using - * rounding mode `roundingMode` to `decimalPlaces` decimal places, i.e with one digit before the - * decimal point and `decimalPlaces` digits after it. - * - * If the value of this BigNumber in exponential notation has fewer than `decimalPlaces` fraction - * digits, the return value will be appended with zeros accordingly. - * - * If `decimalPlaces` is omitted, or is `null` or `undefined`, the number of digits after the - * decimal point defaults to the minimum number of digits necessary to represent the value - * exactly. - * - * If `roundingMode` is omitted or is `null` or `undefined`, `ROUNDING_MODE` is used. - * - * Throws if `decimalPlaces` or `roundingMode` is invalid. - * - * ```ts - * x = 45.6 - * y = new BigNumber(x) - * x.toExponential() // '4.56e+1' - * y.toExponential() // '4.56e+1' - * x.toExponential(0) // '5e+1' - * y.toExponential(0) // '5e+1' - * x.toExponential(1) // '4.6e+1' - * y.toExponential(1) // '4.6e+1' - * y.toExponential(1, 1) // '4.5e+1' (ROUND_DOWN) - * x.toExponential(3) // '4.560e+1' - * y.toExponential(3) // '4.560e+1' - * ``` - * - * @param [decimalPlaces] Decimal places, integer, 0 to 1e+9. - * @param [roundingMode] Rounding mode, integer, 0 to 8. - */ - toExponential(decimalPlaces: number, roundingMode?: BigNumber.RoundingMode): string; - toExponential(): string; - - /** - * Returns a string representing the value of this BigNumber in normal (fixed-point) notation - * rounded to `decimalPlaces` decimal places using rounding mode `roundingMode`. - * - * If the value of this BigNumber in normal notation has fewer than `decimalPlaces` fraction - * digits, the return value will be appended with zeros accordingly. - * - * Unlike `Number.prototype.toFixed`, which returns exponential notation if a number is greater or - * equal to 10**21, this method will always return normal notation. - * - * If `decimalPlaces` is omitted or is `null` or `undefined`, the return value will be unrounded - * and in normal notation. This is also unlike `Number.prototype.toFixed`, which returns the value - * to zero decimal places. It is useful when normal notation is required and the current - * `EXPONENTIAL_AT` setting causes `toString` to return exponential notation. - * - * If `roundingMode` is omitted or is `null` or `undefined`, `ROUNDING_MODE` is used. - * - * Throws if `decimalPlaces` or `roundingMode` is invalid. - * - * ```ts - * x = 3.456 - * y = new BigNumber(x) - * x.toFixed() // '3' - * y.toFixed() // '3.456' - * y.toFixed(0) // '3' - * x.toFixed(2) // '3.46' - * y.toFixed(2) // '3.46' - * y.toFixed(2, 1) // '3.45' (ROUND_DOWN) - * x.toFixed(5) // '3.45600' - * y.toFixed(5) // '3.45600' - * ``` - * - * @param [decimalPlaces] Decimal places, integer, 0 to 1e+9. - * @param [roundingMode] Rounding mode, integer, 0 to 8. - */ - toFixed(decimalPlaces: number, roundingMode?: BigNumber.RoundingMode): string; - toFixed(): string; - - /** - * Returns a string representing the value of this BigNumber in normal (fixed-point) notation - * rounded to `decimalPlaces` decimal places using rounding mode `roundingMode`, and formatted - * according to the properties of the `format` or `FORMAT` object. - * - * The formatting object may contain some or all of the properties shown in the examples below. - * - * If `decimalPlaces` is omitted or is `null` or `undefined`, then the return value is not - * rounded to a fixed number of decimal places. - * - * If `roundingMode` is omitted or is `null` or `undefined`, `ROUNDING_MODE` is used. - * - * If `format` is omitted or is `null` or `undefined`, `FORMAT` is used. - * - * Throws if `decimalPlaces`, `roundingMode`, or `format` is invalid. - * - * ```ts - * fmt = { - * decimalSeparator: '.', - * groupSeparator: ',', - * groupSize: 3, - * secondaryGroupSize: 0, - * fractionGroupSeparator: ' ', - * fractionGroupSize: 0 - * } - * - * x = new BigNumber('123456789.123456789') - * - * // Set the global formatting options - * BigNumber.config({ FORMAT: fmt }) - * - * x.toFormat() // '123,456,789.123456789' - * x.toFormat(3) // '123,456,789.123' - * - * // If a reference to the object assigned to FORMAT has been retained, - * // the format properties can be changed directly - * fmt.groupSeparator = ' ' - * fmt.fractionGroupSize = 5 - * x.toFormat() // '123 456 789.12345 6789' - * - * // Alternatively, pass the formatting options as an argument - * fmt = { - * decimalSeparator: ',', - * groupSeparator: '.', - * groupSize: 3, - * secondaryGroupSize: 2 - * } - * - * x.toFormat() // '123 456 789.12345 6789' - * x.toFormat(fmt) // '12.34.56.789,123456789' - * x.toFormat(2, fmt) // '12.34.56.789,12' - * x.toFormat(3, BigNumber.ROUND_UP, fmt) // '12.34.56.789,124' - * ``` - * - * @param [decimalPlaces] Decimal places, integer, 0 to 1e+9. - * @param [roundingMode] Rounding mode, integer, 0 to 8. - * @param [format] Formatting options object. See `BigNumber.Format`. - */ - toFormat(decimalPlaces: number, roundingMode: BigNumber.RoundingMode, format?: BigNumber.Format): string; - toFormat(decimalPlaces: number, roundingMode?: BigNumber.RoundingMode): string; - toFormat(decimalPlaces?: number): string; - toFormat(decimalPlaces: number, format: BigNumber.Format): string; - toFormat(format: BigNumber.Format): string; - - /** - * Returns an array of two BigNumbers representing the value of this BigNumber as a simple - * fraction with an integer numerator and an integer denominator. - * The denominator will be a positive non-zero value less than or equal to `max_denominator`. - * If a maximum denominator, `max_denominator`, is not specified, or is `null` or `undefined`, the - * denominator will be the lowest value necessary to represent the number exactly. - * - * Throws if `max_denominator` is invalid. - * - * ```ts - * x = new BigNumber(1.75) - * x.toFraction() // '7, 4' - * - * pi = new BigNumber('3.14159265358') - * pi.toFraction() // '157079632679,50000000000' - * pi.toFraction(100000) // '312689, 99532' - * pi.toFraction(10000) // '355, 113' - * pi.toFraction(100) // '311, 99' - * pi.toFraction(10) // '22, 7' - * pi.toFraction(1) // '3, 1' - * ``` - * - * @param [max_denominator] The maximum denominator, integer > 0, or Infinity. - */ - toFraction(max_denominator?: BigNumber.Value): [BigNumber, BigNumber]; - - /** As `valueOf`. */ - toJSON(): string; - - /** - * Returns the value of this BigNumber as a JavaScript primitive number. - * - * Using the unary plus operator gives the same result. - * - * ```ts - * x = new BigNumber(456.789) - * x.toNumber() // 456.789 - * +x // 456.789 - * - * y = new BigNumber('45987349857634085409857349856430985') - * y.toNumber() // 4.598734985763409e+34 - * - * z = new BigNumber(-0) - * 1 / z.toNumber() // -Infinity - * 1 / +z // -Infinity - * ``` - */ - toNumber(): number; - - /** - * Returns a string representing the value of this BigNumber rounded to `significantDigits` - * significant digits using rounding mode `roundingMode`. - * - * If `significantDigits` is less than the number of digits necessary to represent the integer - * part of the value in normal (fixed-point) notation, then exponential notation is used. - * - * If `significantDigits` is omitted, or is `null` or `undefined`, then the return value is the - * same as `n.toString()`. - * - * If `roundingMode` is omitted or is `null` or `undefined`, `ROUNDING_MODE` is used. - * - * Throws if `significantDigits` or `roundingMode` is invalid. - * - * ```ts - * x = 45.6 - * y = new BigNumber(x) - * x.toPrecision() // '45.6' - * y.toPrecision() // '45.6' - * x.toPrecision(1) // '5e+1' - * y.toPrecision(1) // '5e+1' - * y.toPrecision(2, 0) // '4.6e+1' (ROUND_UP) - * y.toPrecision(2, 1) // '4.5e+1' (ROUND_DOWN) - * x.toPrecision(5) // '45.600' - * y.toPrecision(5) // '45.600' - * ``` - * - * @param [significantDigits] Significant digits, integer, 1 to 1e+9. - * @param [roundingMode] Rounding mode, integer 0 to 8. - */ - toPrecision(significantDigits: number, roundingMode?: BigNumber.RoundingMode): string; - toPrecision(): string; - - /** - * Returns a string representing the value of this BigNumber in base `base`, or base 10 if `base` - * is omitted or is `null` or `undefined`. - * - * For bases above 10, and using the default base conversion alphabet (see `ALPHABET`), values - * from 10 to 35 are represented by a-z (the same as `Number.prototype.toString`). - * - * If a base is specified the value is rounded according to the current `DECIMAL_PLACES` and - * `ROUNDING_MODE` settings, otherwise it is not. - * - * If a base is not specified, and this BigNumber has a positive exponent that is equal to or - * greater than the positive component of the current `EXPONENTIAL_AT` setting, or a negative - * exponent equal to or less than the negative component of the setting, then exponential notation - * is returned. - * - * If `base` is `null` or `undefined` it is ignored. - * - * Throws if `base` is invalid. - * - * ```ts - * x = new BigNumber(750000) - * x.toString() // '750000' - * BigNumber.config({ EXPONENTIAL_AT: 5 }) - * x.toString() // '7.5e+5' - * - * y = new BigNumber(362.875) - * y.toString(2) // '101101010.111' - * y.toString(9) // '442.77777777777777777778' - * y.toString(32) // 'ba.s' - * - * BigNumber.config({ DECIMAL_PLACES: 4 }); - * z = new BigNumber('1.23456789') - * z.toString() // '1.23456789' - * z.toString(10) // '1.2346' - * ``` - * - * @param [base] The base, integer, 2 to 36 (or `ALPHABET.length`, see `ALPHABET`). - */ - toString(base?: number): string; - - /** - * As `toString`, but does not accept a base argument and includes the minus sign for negative - * zero. - * - * ``ts - * x = new BigNumber('-0') - * x.toString() // '0' - * x.valueOf() // '-0' - * y = new BigNumber('1.777e+457') - * y.valueOf() // '1.777e+457' - * ``` - */ - valueOf(): string; - - /** Helps ES6 import. */ - private static readonly default?: BigNumber.Constructor; - - /** Helps ES6 import. */ - private static readonly BigNumber?: BigNumber.Constructor; - - /** Rounds away from zero. */ - static readonly ROUND_UP: 0; - - /** Rounds towards zero. */ - static readonly ROUND_DOWN: 1; - - /** Rounds towards Infinity. */ - static readonly ROUND_CEIL: 2; - - /** Rounds towards -Infinity. */ - static readonly ROUND_FLOOR: 3; - - /** Rounds towards nearest neighbour. If equidistant, rounds away from zero . */ - static readonly ROUND_HALF_UP: 4; - - /** Rounds towards nearest neighbour. If equidistant, rounds towards zero. */ - static readonly ROUND_HALF_DOWN: 5; - - /** Rounds towards nearest neighbour. If equidistant, rounds towards even neighbour. */ - static readonly ROUND_HALF_EVEN: 6; - - /** Rounds towards nearest neighbour. If equidistant, rounds towards Infinity. */ - static readonly ROUND_HALF_CEIL: 7; - - /** Rounds towards nearest neighbour. If equidistant, rounds towards -Infinity. */ - static readonly ROUND_HALF_FLOOR: 8; - - /** See `MODULO_MODE`. */ - static readonly EUCLID: 9; - - /** - * To aid in debugging, if a `BigNumber.DEBUG` property is `true` then an error will be thrown - * if the BigNumber constructor receives an invalid `BigNumber.Value`, or if `BigNumber.isBigNumber` - * receives a BigNumber instance that is malformed. - * - * ```ts - * // No error, and BigNumber NaN is returned. - * new BigNumber('blurgh') // 'NaN' - * new BigNumber(9, 2) // 'NaN' - * BigNumber.DEBUG = true - * new BigNumber('blurgh') // '[BigNumber Error] Not a number' - * new BigNumber(9, 2) // '[BigNumber Error] Not a base 2 number' - * ``` - * - * An error will also be thrown if a `BigNumber.Value` is of type number with more than 15 - * significant digits, as calling `toString` or `valueOf` on such numbers may not result - * in the intended value. - * - * ```ts - * console.log(823456789123456.3) // 823456789123456.2 - * // No error, and the returned BigNumber does not have the same value as the number literal. - * new BigNumber(823456789123456.3) // '823456789123456.2' - * BigNumber.DEBUG = true - * new BigNumber(823456789123456.3) - * // '[BigNumber Error] Number primitive has more than 15 significant digits' - * ``` - * - * Check that a BigNumber instance is well-formed: - * - * ```ts - * x = new BigNumber(10) - * - * BigNumber.DEBUG = false - * // Change x.c to an illegitimate value. - * x.c = NaN - * // No error, as BigNumber.DEBUG is false. - * BigNumber.isBigNumber(x) // true - * - * BigNumber.DEBUG = true - * BigNumber.isBigNumber(x) // '[BigNumber Error] Invalid BigNumber' - * ``` - */ - static DEBUG?: boolean; - - /** - * Returns a new independent BigNumber constructor with configuration as described by `object`, or - * with the default configuration if object is `null` or `undefined`. - * - * Throws if `object` is not an object. - * - * ```ts - * BigNumber.config({ DECIMAL_PLACES: 5 }) - * BN = BigNumber.clone({ DECIMAL_PLACES: 9 }) - * - * x = new BigNumber(1) - * y = new BN(1) - * - * x.div(3) // 0.33333 - * y.div(3) // 0.333333333 - * - * // BN = BigNumber.clone({ DECIMAL_PLACES: 9 }) is equivalent to: - * BN = BigNumber.clone() - * BN.config({ DECIMAL_PLACES: 9 }) - * ``` - * - * @param [object] The configuration object. - */ - static clone(object?: BigNumber.Config): BigNumber.Constructor; - - /** - * Configures the settings that apply to this BigNumber constructor. - * - * The configuration object, `object`, contains any number of the properties shown in the example - * below. - * - * Returns an object with the above properties and their current values. - * - * Throws if `object` is not an object, or if an invalid value is assigned to one or more of the - * properties. - * - * ```ts - * BigNumber.config({ - * DECIMAL_PLACES: 40, - * ROUNDING_MODE: BigNumber.ROUND_HALF_CEIL, - * EXPONENTIAL_AT: [-10, 20], - * RANGE: [-500, 500], - * CRYPTO: true, - * MODULO_MODE: BigNumber.ROUND_FLOOR, - * POW_PRECISION: 80, - * FORMAT: { - * groupSize: 3, - * groupSeparator: ' ', - * decimalSeparator: ',' - * }, - * ALPHABET: '0123456789abcdefghijklmnopqrstuvwxyzABCDEFGHIJKLMNOPQRSTUVWXYZ$_' - * }); - * - * BigNumber.config().DECIMAL_PLACES // 40 - * ``` - * - * @param object The configuration object. - */ - static config(object: BigNumber.Config): BigNumber.Config; - - /** - * Returns `true` if `value` is a BigNumber instance, otherwise returns `false`. - * - * If `BigNumber.DEBUG` is `true`, throws if a BigNumber instance is not well-formed. - * - * ```ts - * x = 42 - * y = new BigNumber(x) - * - * BigNumber.isBigNumber(x) // false - * y instanceof BigNumber // true - * BigNumber.isBigNumber(y) // true - * - * BN = BigNumber.clone(); - * z = new BN(x) - * z instanceof BigNumber // false - * BigNumber.isBigNumber(z) // true - * ``` - * - * @param value The value to test. - */ - static isBigNumber(value: any): value is BigNumber; - - /** - * Returns a BigNumber whose value is the maximum of the arguments. - * - * The return value is always exact and unrounded. - * - * ```ts - * x = new BigNumber('3257869345.0378653') - * BigNumber.maximum(4e9, x, '123456789.9') // '4000000000' - * - * arr = [12, '13', new BigNumber(14)] - * BigNumber.maximum.apply(null, arr) // '14' - * ``` - * - * @param n A numeric value. - */ - static maximum(...n: BigNumber.Value[]): BigNumber; - - /** - * Returns a BigNumber whose value is the maximum of the arguments. - * - * The return value is always exact and unrounded. - * - * ```ts - * x = new BigNumber('3257869345.0378653') - * BigNumber.max(4e9, x, '123456789.9') // '4000000000' - * - * arr = [12, '13', new BigNumber(14)] - * BigNumber.max.apply(null, arr) // '14' - * ``` - * - * @param n A numeric value. - */ - static max(...n: BigNumber.Value[]): BigNumber; - - /** - * Returns a BigNumber whose value is the minimum of the arguments. - * - * The return value is always exact and unrounded. - * - * ```ts - * x = new BigNumber('3257869345.0378653') - * BigNumber.minimum(4e9, x, '123456789.9') // '123456789.9' - * - * arr = [2, new BigNumber(-14), '-15.9999', -12] - * BigNumber.minimum.apply(null, arr) // '-15.9999' - * ``` - * - * @param n A numeric value. - */ - static minimum(...n: BigNumber.Value[]): BigNumber; - - /** - * Returns a BigNumber whose value is the minimum of the arguments. - * - * The return value is always exact and unrounded. - * - * ```ts - * x = new BigNumber('3257869345.0378653') - * BigNumber.min(4e9, x, '123456789.9') // '123456789.9' - * - * arr = [2, new BigNumber(-14), '-15.9999', -12] - * BigNumber.min.apply(null, arr) // '-15.9999' - * ``` - * - * @param n A numeric value. - */ - static min(...n: BigNumber.Value[]): BigNumber; - - /** - * Returns a new BigNumber with a pseudo-random value equal to or greater than 0 and less than 1. - * - * The return value will have `decimalPlaces` decimal places, or less if trailing zeros are - * produced. If `decimalPlaces` is omitted, the current `DECIMAL_PLACES` setting will be used. - * - * Depending on the value of this BigNumber constructor's `CRYPTO` setting and the support for the - * `crypto` object in the host environment, the random digits of the return value are generated by - * either `Math.random` (fastest), `crypto.getRandomValues` (Web Cryptography API in recent - * browsers) or `crypto.randomBytes` (Node.js). - * - * To be able to set `CRYPTO` to true when using Node.js, the `crypto` object must be available - * globally: - * - * ```ts - * global.crypto = require('crypto') - * ``` - * - * If `CRYPTO` is true, i.e. one of the `crypto` methods is to be used, the value of a returned - * BigNumber should be cryptographically secure and statistically indistinguishable from a random - * value. - * - * Throws if `decimalPlaces` is invalid. - * - * ```ts - * BigNumber.config({ DECIMAL_PLACES: 10 }) - * BigNumber.random() // '0.4117936847' - * BigNumber.random(20) // '0.78193327636914089009' - * ``` - * - * @param [decimalPlaces] Decimal places, integer, 0 to 1e+9. - */ - static random(decimalPlaces?: number): BigNumber; - - /** - * Returns a BigNumber whose value is the sum of the arguments. - * - * The return value is always exact and unrounded. - * - * ```ts - * x = new BigNumber('3257869345.0378653') - * BigNumber.sum(4e9, x, '123456789.9') // '7381326134.9378653' - * - * arr = [2, new BigNumber(14), '15.9999', 12] - * BigNumber.sum.apply(null, arr) // '43.9999' - * ``` - * - * @param n A numeric value. - */ - static sum(...n: BigNumber.Value[]): BigNumber; - - /** - * Configures the settings that apply to this BigNumber constructor. - * - * The configuration object, `object`, contains any number of the properties shown in the example - * below. - * - * Returns an object with the above properties and their current values. - * - * Throws if `object` is not an object, or if an invalid value is assigned to one or more of the - * properties. - * - * ```ts - * BigNumber.set({ - * DECIMAL_PLACES: 40, - * ROUNDING_MODE: BigNumber.ROUND_HALF_CEIL, - * EXPONENTIAL_AT: [-10, 20], - * RANGE: [-500, 500], - * CRYPTO: true, - * MODULO_MODE: BigNumber.ROUND_FLOOR, - * POW_PRECISION: 80, - * FORMAT: { - * groupSize: 3, - * groupSeparator: ' ', - * decimalSeparator: ',' - * }, - * ALPHABET: '0123456789abcdefghijklmnopqrstuvwxyzABCDEFGHIJKLMNOPQRSTUVWXYZ$_' - * }); - * - * BigNumber.set().DECIMAL_PLACES // 40 - * ``` - * - * @param object The configuration object. - */ - static set(object: BigNumber.Config): BigNumber.Config; -} diff --git a/node_modules/bignumber.js/bignumber.js b/node_modules/bignumber.js/bignumber.js deleted file mode 100644 index f2ea883..0000000 --- a/node_modules/bignumber.js/bignumber.js +++ /dev/null @@ -1,2902 +0,0 @@ -;(function (globalObject) { - 'use strict'; - -/* - * bignumber.js v9.0.0 - * A JavaScript library for arbitrary-precision arithmetic. - * https://github.com/MikeMcl/bignumber.js - * Copyright (c) 2019 Michael Mclaughlin - * MIT Licensed. - * - * BigNumber.prototype methods | BigNumber methods - * | - * absoluteValue abs | clone - * comparedTo | config set - * decimalPlaces dp | DECIMAL_PLACES - * dividedBy div | ROUNDING_MODE - * dividedToIntegerBy idiv | EXPONENTIAL_AT - * exponentiatedBy pow | RANGE - * integerValue | CRYPTO - * isEqualTo eq | MODULO_MODE - * isFinite | POW_PRECISION - * isGreaterThan gt | FORMAT - * isGreaterThanOrEqualTo gte | ALPHABET - * isInteger | isBigNumber - * isLessThan lt | maximum max - * isLessThanOrEqualTo lte | minimum min - * isNaN | random - * isNegative | sum - * isPositive | - * isZero | - * minus | - * modulo mod | - * multipliedBy times | - * negated | - * plus | - * precision sd | - * shiftedBy | - * squareRoot sqrt | - * toExponential | - * toFixed | - * toFormat | - * toFraction | - * toJSON | - * toNumber | - * toPrecision | - * toString | - * valueOf | - * - */ - - - var BigNumber, - isNumeric = /^-?(?:\d+(?:\.\d*)?|\.\d+)(?:e[+-]?\d+)?$/i, - mathceil = Math.ceil, - mathfloor = Math.floor, - - bignumberError = '[BigNumber Error] ', - tooManyDigits = bignumberError + 'Number primitive has more than 15 significant digits: ', - - BASE = 1e14, - LOG_BASE = 14, - MAX_SAFE_INTEGER = 0x1fffffffffffff, // 2^53 - 1 - // MAX_INT32 = 0x7fffffff, // 2^31 - 1 - POWS_TEN = [1, 10, 100, 1e3, 1e4, 1e5, 1e6, 1e7, 1e8, 1e9, 1e10, 1e11, 1e12, 1e13], - SQRT_BASE = 1e7, - - // EDITABLE - // The limit on the value of DECIMAL_PLACES, TO_EXP_NEG, TO_EXP_POS, MIN_EXP, MAX_EXP, and - // the arguments to toExponential, toFixed, toFormat, and toPrecision. - MAX = 1E9; // 0 to MAX_INT32 - - - /* - * Create and return a BigNumber constructor. - */ - function clone(configObject) { - var div, convertBase, parseNumeric, - P = BigNumber.prototype = { constructor: BigNumber, toString: null, valueOf: null }, - ONE = new BigNumber(1), - - - //----------------------------- EDITABLE CONFIG DEFAULTS ------------------------------- - - - // The default values below must be integers within the inclusive ranges stated. - // The values can also be changed at run-time using BigNumber.set. - - // The maximum number of decimal places for operations involving division. - DECIMAL_PLACES = 20, // 0 to MAX - - // The rounding mode used when rounding to the above decimal places, and when using - // toExponential, toFixed, toFormat and toPrecision, and round (default value). - // UP 0 Away from zero. - // DOWN 1 Towards zero. - // CEIL 2 Towards +Infinity. - // FLOOR 3 Towards -Infinity. - // HALF_UP 4 Towards nearest neighbour. If equidistant, up. - // HALF_DOWN 5 Towards nearest neighbour. If equidistant, down. - // HALF_EVEN 6 Towards nearest neighbour. If equidistant, towards even neighbour. - // HALF_CEIL 7 Towards nearest neighbour. If equidistant, towards +Infinity. - // HALF_FLOOR 8 Towards nearest neighbour. If equidistant, towards -Infinity. - ROUNDING_MODE = 4, // 0 to 8 - - // EXPONENTIAL_AT : [TO_EXP_NEG , TO_EXP_POS] - - // The exponent value at and beneath which toString returns exponential notation. - // Number type: -7 - TO_EXP_NEG = -7, // 0 to -MAX - - // The exponent value at and above which toString returns exponential notation. - // Number type: 21 - TO_EXP_POS = 21, // 0 to MAX - - // RANGE : [MIN_EXP, MAX_EXP] - - // The minimum exponent value, beneath which underflow to zero occurs. - // Number type: -324 (5e-324) - MIN_EXP = -1e7, // -1 to -MAX - - // The maximum exponent value, above which overflow to Infinity occurs. - // Number type: 308 (1.7976931348623157e+308) - // For MAX_EXP > 1e7, e.g. new BigNumber('1e100000000').plus(1) may be slow. - MAX_EXP = 1e7, // 1 to MAX - - // Whether to use cryptographically-secure random number generation, if available. - CRYPTO = false, // true or false - - // The modulo mode used when calculating the modulus: a mod n. - // The quotient (q = a / n) is calculated according to the corresponding rounding mode. - // The remainder (r) is calculated as: r = a - n * q. - // - // UP 0 The remainder is positive if the dividend is negative, else is negative. - // DOWN 1 The remainder has the same sign as the dividend. - // This modulo mode is commonly known as 'truncated division' and is - // equivalent to (a % n) in JavaScript. - // FLOOR 3 The remainder has the same sign as the divisor (Python %). - // HALF_EVEN 6 This modulo mode implements the IEEE 754 remainder function. - // EUCLID 9 Euclidian division. q = sign(n) * floor(a / abs(n)). - // The remainder is always positive. - // - // The truncated division, floored division, Euclidian division and IEEE 754 remainder - // modes are commonly used for the modulus operation. - // Although the other rounding modes can also be used, they may not give useful results. - MODULO_MODE = 1, // 0 to 9 - - // The maximum number of significant digits of the result of the exponentiatedBy operation. - // If POW_PRECISION is 0, there will be unlimited significant digits. - POW_PRECISION = 0, // 0 to MAX - - // The format specification used by the BigNumber.prototype.toFormat method. - FORMAT = { - prefix: '', - groupSize: 3, - secondaryGroupSize: 0, - groupSeparator: ',', - decimalSeparator: '.', - fractionGroupSize: 0, - fractionGroupSeparator: '\xA0', // non-breaking space - suffix: '' - }, - - // The alphabet used for base conversion. It must be at least 2 characters long, with no '+', - // '-', '.', whitespace, or repeated character. - // '0123456789abcdefghijklmnopqrstuvwxyzABCDEFGHIJKLMNOPQRSTUVWXYZ$_' - ALPHABET = '0123456789abcdefghijklmnopqrstuvwxyz'; - - - //------------------------------------------------------------------------------------------ - - - // CONSTRUCTOR - - - /* - * The BigNumber constructor and exported function. - * Create and return a new instance of a BigNumber object. - * - * v {number|string|BigNumber} A numeric value. - * [b] {number} The base of v. Integer, 2 to ALPHABET.length inclusive. - */ - function BigNumber(v, b) { - var alphabet, c, caseChanged, e, i, isNum, len, str, - x = this; - - // Enable constructor call without `new`. - if (!(x instanceof BigNumber)) return new BigNumber(v, b); - - if (b == null) { - - if (v && v._isBigNumber === true) { - x.s = v.s; - - if (!v.c || v.e > MAX_EXP) { - x.c = x.e = null; - } else if (v.e < MIN_EXP) { - x.c = [x.e = 0]; - } else { - x.e = v.e; - x.c = v.c.slice(); - } - - return; - } - - if ((isNum = typeof v == 'number') && v * 0 == 0) { - - // Use `1 / n` to handle minus zero also. - x.s = 1 / v < 0 ? (v = -v, -1) : 1; - - // Fast path for integers, where n < 2147483648 (2**31). - if (v === ~~v) { - for (e = 0, i = v; i >= 10; i /= 10, e++); - - if (e > MAX_EXP) { - x.c = x.e = null; - } else { - x.e = e; - x.c = [v]; - } - - return; - } - - str = String(v); - } else { - - if (!isNumeric.test(str = String(v))) return parseNumeric(x, str, isNum); - - x.s = str.charCodeAt(0) == 45 ? (str = str.slice(1), -1) : 1; - } - - // Decimal point? - if ((e = str.indexOf('.')) > -1) str = str.replace('.', ''); - - // Exponential form? - if ((i = str.search(/e/i)) > 0) { - - // Determine exponent. - if (e < 0) e = i; - e += +str.slice(i + 1); - str = str.substring(0, i); - } else if (e < 0) { - - // Integer. - e = str.length; - } - - } else { - - // '[BigNumber Error] Base {not a primitive number|not an integer|out of range}: {b}' - intCheck(b, 2, ALPHABET.length, 'Base'); - - // Allow exponential notation to be used with base 10 argument, while - // also rounding to DECIMAL_PLACES as with other bases. - if (b == 10) { - x = new BigNumber(v); - return round(x, DECIMAL_PLACES + x.e + 1, ROUNDING_MODE); - } - - str = String(v); - - if (isNum = typeof v == 'number') { - - // Avoid potential interpretation of Infinity and NaN as base 44+ values. - if (v * 0 != 0) return parseNumeric(x, str, isNum, b); - - x.s = 1 / v < 0 ? (str = str.slice(1), -1) : 1; - - // '[BigNumber Error] Number primitive has more than 15 significant digits: {n}' - if (BigNumber.DEBUG && str.replace(/^0\.0*|\./, '').length > 15) { - throw Error - (tooManyDigits + v); - } - } else { - x.s = str.charCodeAt(0) === 45 ? (str = str.slice(1), -1) : 1; - } - - alphabet = ALPHABET.slice(0, b); - e = i = 0; - - // Check that str is a valid base b number. - // Don't use RegExp, so alphabet can contain special characters. - for (len = str.length; i < len; i++) { - if (alphabet.indexOf(c = str.charAt(i)) < 0) { - if (c == '.') { - - // If '.' is not the first character and it has not be found before. - if (i > e) { - e = len; - continue; - } - } else if (!caseChanged) { - - // Allow e.g. hexadecimal 'FF' as well as 'ff'. - if (str == str.toUpperCase() && (str = str.toLowerCase()) || - str == str.toLowerCase() && (str = str.toUpperCase())) { - caseChanged = true; - i = -1; - e = 0; - continue; - } - } - - return parseNumeric(x, String(v), isNum, b); - } - } - - // Prevent later check for length on converted number. - isNum = false; - str = convertBase(str, b, 10, x.s); - - // Decimal point? - if ((e = str.indexOf('.')) > -1) str = str.replace('.', ''); - else e = str.length; - } - - // Determine leading zeros. - for (i = 0; str.charCodeAt(i) === 48; i++); - - // Determine trailing zeros. - for (len = str.length; str.charCodeAt(--len) === 48;); - - if (str = str.slice(i, ++len)) { - len -= i; - - // '[BigNumber Error] Number primitive has more than 15 significant digits: {n}' - if (isNum && BigNumber.DEBUG && - len > 15 && (v > MAX_SAFE_INTEGER || v !== mathfloor(v))) { - throw Error - (tooManyDigits + (x.s * v)); - } - - // Overflow? - if ((e = e - i - 1) > MAX_EXP) { - - // Infinity. - x.c = x.e = null; - - // Underflow? - } else if (e < MIN_EXP) { - - // Zero. - x.c = [x.e = 0]; - } else { - x.e = e; - x.c = []; - - // Transform base - - // e is the base 10 exponent. - // i is where to slice str to get the first element of the coefficient array. - i = (e + 1) % LOG_BASE; - if (e < 0) i += LOG_BASE; // i < 1 - - if (i < len) { - if (i) x.c.push(+str.slice(0, i)); - - for (len -= LOG_BASE; i < len;) { - x.c.push(+str.slice(i, i += LOG_BASE)); - } - - i = LOG_BASE - (str = str.slice(i)).length; - } else { - i -= len; - } - - for (; i--; str += '0'); - x.c.push(+str); - } - } else { - - // Zero. - x.c = [x.e = 0]; - } - } - - - // CONSTRUCTOR PROPERTIES - - - BigNumber.clone = clone; - - BigNumber.ROUND_UP = 0; - BigNumber.ROUND_DOWN = 1; - BigNumber.ROUND_CEIL = 2; - BigNumber.ROUND_FLOOR = 3; - BigNumber.ROUND_HALF_UP = 4; - BigNumber.ROUND_HALF_DOWN = 5; - BigNumber.ROUND_HALF_EVEN = 6; - BigNumber.ROUND_HALF_CEIL = 7; - BigNumber.ROUND_HALF_FLOOR = 8; - BigNumber.EUCLID = 9; - - - /* - * Configure infrequently-changing library-wide settings. - * - * Accept an object with the following optional properties (if the value of a property is - * a number, it must be an integer within the inclusive range stated): - * - * DECIMAL_PLACES {number} 0 to MAX - * ROUNDING_MODE {number} 0 to 8 - * EXPONENTIAL_AT {number|number[]} -MAX to MAX or [-MAX to 0, 0 to MAX] - * RANGE {number|number[]} -MAX to MAX (not zero) or [-MAX to -1, 1 to MAX] - * CRYPTO {boolean} true or false - * MODULO_MODE {number} 0 to 9 - * POW_PRECISION {number} 0 to MAX - * ALPHABET {string} A string of two or more unique characters which does - * not contain '.'. - * FORMAT {object} An object with some of the following properties: - * prefix {string} - * groupSize {number} - * secondaryGroupSize {number} - * groupSeparator {string} - * decimalSeparator {string} - * fractionGroupSize {number} - * fractionGroupSeparator {string} - * suffix {string} - * - * (The values assigned to the above FORMAT object properties are not checked for validity.) - * - * E.g. - * BigNumber.config({ DECIMAL_PLACES : 20, ROUNDING_MODE : 4 }) - * - * Ignore properties/parameters set to null or undefined, except for ALPHABET. - * - * Return an object with the properties current values. - */ - BigNumber.config = BigNumber.set = function (obj) { - var p, v; - - if (obj != null) { - - if (typeof obj == 'object') { - - // DECIMAL_PLACES {number} Integer, 0 to MAX inclusive. - // '[BigNumber Error] DECIMAL_PLACES {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'DECIMAL_PLACES')) { - v = obj[p]; - intCheck(v, 0, MAX, p); - DECIMAL_PLACES = v; - } - - // ROUNDING_MODE {number} Integer, 0 to 8 inclusive. - // '[BigNumber Error] ROUNDING_MODE {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'ROUNDING_MODE')) { - v = obj[p]; - intCheck(v, 0, 8, p); - ROUNDING_MODE = v; - } - - // EXPONENTIAL_AT {number|number[]} - // Integer, -MAX to MAX inclusive or - // [integer -MAX to 0 inclusive, 0 to MAX inclusive]. - // '[BigNumber Error] EXPONENTIAL_AT {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'EXPONENTIAL_AT')) { - v = obj[p]; - if (v && v.pop) { - intCheck(v[0], -MAX, 0, p); - intCheck(v[1], 0, MAX, p); - TO_EXP_NEG = v[0]; - TO_EXP_POS = v[1]; - } else { - intCheck(v, -MAX, MAX, p); - TO_EXP_NEG = -(TO_EXP_POS = v < 0 ? -v : v); - } - } - - // RANGE {number|number[]} Non-zero integer, -MAX to MAX inclusive or - // [integer -MAX to -1 inclusive, integer 1 to MAX inclusive]. - // '[BigNumber Error] RANGE {not a primitive number|not an integer|out of range|cannot be zero}: {v}' - if (obj.hasOwnProperty(p = 'RANGE')) { - v = obj[p]; - if (v && v.pop) { - intCheck(v[0], -MAX, -1, p); - intCheck(v[1], 1, MAX, p); - MIN_EXP = v[0]; - MAX_EXP = v[1]; - } else { - intCheck(v, -MAX, MAX, p); - if (v) { - MIN_EXP = -(MAX_EXP = v < 0 ? -v : v); - } else { - throw Error - (bignumberError + p + ' cannot be zero: ' + v); - } - } - } - - // CRYPTO {boolean} true or false. - // '[BigNumber Error] CRYPTO not true or false: {v}' - // '[BigNumber Error] crypto unavailable' - if (obj.hasOwnProperty(p = 'CRYPTO')) { - v = obj[p]; - if (v === !!v) { - if (v) { - if (typeof crypto != 'undefined' && crypto && - (crypto.getRandomValues || crypto.randomBytes)) { - CRYPTO = v; - } else { - CRYPTO = !v; - throw Error - (bignumberError + 'crypto unavailable'); - } - } else { - CRYPTO = v; - } - } else { - throw Error - (bignumberError + p + ' not true or false: ' + v); - } - } - - // MODULO_MODE {number} Integer, 0 to 9 inclusive. - // '[BigNumber Error] MODULO_MODE {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'MODULO_MODE')) { - v = obj[p]; - intCheck(v, 0, 9, p); - MODULO_MODE = v; - } - - // POW_PRECISION {number} Integer, 0 to MAX inclusive. - // '[BigNumber Error] POW_PRECISION {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'POW_PRECISION')) { - v = obj[p]; - intCheck(v, 0, MAX, p); - POW_PRECISION = v; - } - - // FORMAT {object} - // '[BigNumber Error] FORMAT not an object: {v}' - if (obj.hasOwnProperty(p = 'FORMAT')) { - v = obj[p]; - if (typeof v == 'object') FORMAT = v; - else throw Error - (bignumberError + p + ' not an object: ' + v); - } - - // ALPHABET {string} - // '[BigNumber Error] ALPHABET invalid: {v}' - if (obj.hasOwnProperty(p = 'ALPHABET')) { - v = obj[p]; - - // Disallow if only one character, - // or if it contains '+', '-', '.', whitespace, or a repeated character. - if (typeof v == 'string' && !/^.$|[+-.\s]|(.).*\1/.test(v)) { - ALPHABET = v; - } else { - throw Error - (bignumberError + p + ' invalid: ' + v); - } - } - - } else { - - // '[BigNumber Error] Object expected: {v}' - throw Error - (bignumberError + 'Object expected: ' + obj); - } - } - - return { - DECIMAL_PLACES: DECIMAL_PLACES, - ROUNDING_MODE: ROUNDING_MODE, - EXPONENTIAL_AT: [TO_EXP_NEG, TO_EXP_POS], - RANGE: [MIN_EXP, MAX_EXP], - CRYPTO: CRYPTO, - MODULO_MODE: MODULO_MODE, - POW_PRECISION: POW_PRECISION, - FORMAT: FORMAT, - ALPHABET: ALPHABET - }; - }; - - - /* - * Return true if v is a BigNumber instance, otherwise return false. - * - * If BigNumber.DEBUG is true, throw if a BigNumber instance is not well-formed. - * - * v {any} - * - * '[BigNumber Error] Invalid BigNumber: {v}' - */ - BigNumber.isBigNumber = function (v) { - if (!v || v._isBigNumber !== true) return false; - if (!BigNumber.DEBUG) return true; - - var i, n, - c = v.c, - e = v.e, - s = v.s; - - out: if ({}.toString.call(c) == '[object Array]') { - - if ((s === 1 || s === -1) && e >= -MAX && e <= MAX && e === mathfloor(e)) { - - // If the first element is zero, the BigNumber value must be zero. - if (c[0] === 0) { - if (e === 0 && c.length === 1) return true; - break out; - } - - // Calculate number of digits that c[0] should have, based on the exponent. - i = (e + 1) % LOG_BASE; - if (i < 1) i += LOG_BASE; - - // Calculate number of digits of c[0]. - //if (Math.ceil(Math.log(c[0] + 1) / Math.LN10) == i) { - if (String(c[0]).length == i) { - - for (i = 0; i < c.length; i++) { - n = c[i]; - if (n < 0 || n >= BASE || n !== mathfloor(n)) break out; - } - - // Last element cannot be zero, unless it is the only element. - if (n !== 0) return true; - } - } - - // Infinity/NaN - } else if (c === null && e === null && (s === null || s === 1 || s === -1)) { - return true; - } - - throw Error - (bignumberError + 'Invalid BigNumber: ' + v); - }; - - - /* - * Return a new BigNumber whose value is the maximum of the arguments. - * - * arguments {number|string|BigNumber} - */ - BigNumber.maximum = BigNumber.max = function () { - return maxOrMin(arguments, P.lt); - }; - - - /* - * Return a new BigNumber whose value is the minimum of the arguments. - * - * arguments {number|string|BigNumber} - */ - BigNumber.minimum = BigNumber.min = function () { - return maxOrMin(arguments, P.gt); - }; - - - /* - * Return a new BigNumber with a random value equal to or greater than 0 and less than 1, - * and with dp, or DECIMAL_PLACES if dp is omitted, decimal places (or less if trailing - * zeros are produced). - * - * [dp] {number} Decimal places. Integer, 0 to MAX inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp}' - * '[BigNumber Error] crypto unavailable' - */ - BigNumber.random = (function () { - var pow2_53 = 0x20000000000000; - - // Return a 53 bit integer n, where 0 <= n < 9007199254740992. - // Check if Math.random() produces more than 32 bits of randomness. - // If it does, assume at least 53 bits are produced, otherwise assume at least 30 bits. - // 0x40000000 is 2^30, 0x800000 is 2^23, 0x1fffff is 2^21 - 1. - var random53bitInt = (Math.random() * pow2_53) & 0x1fffff - ? function () { return mathfloor(Math.random() * pow2_53); } - : function () { return ((Math.random() * 0x40000000 | 0) * 0x800000) + - (Math.random() * 0x800000 | 0); }; - - return function (dp) { - var a, b, e, k, v, - i = 0, - c = [], - rand = new BigNumber(ONE); - - if (dp == null) dp = DECIMAL_PLACES; - else intCheck(dp, 0, MAX); - - k = mathceil(dp / LOG_BASE); - - if (CRYPTO) { - - // Browsers supporting crypto.getRandomValues. - if (crypto.getRandomValues) { - - a = crypto.getRandomValues(new Uint32Array(k *= 2)); - - for (; i < k;) { - - // 53 bits: - // ((Math.pow(2, 32) - 1) * Math.pow(2, 21)).toString(2) - // 11111 11111111 11111111 11111111 11100000 00000000 00000000 - // ((Math.pow(2, 32) - 1) >>> 11).toString(2) - // 11111 11111111 11111111 - // 0x20000 is 2^21. - v = a[i] * 0x20000 + (a[i + 1] >>> 11); - - // Rejection sampling: - // 0 <= v < 9007199254740992 - // Probability that v >= 9e15, is - // 7199254740992 / 9007199254740992 ~= 0.0008, i.e. 1 in 1251 - if (v >= 9e15) { - b = crypto.getRandomValues(new Uint32Array(2)); - a[i] = b[0]; - a[i + 1] = b[1]; - } else { - - // 0 <= v <= 8999999999999999 - // 0 <= (v % 1e14) <= 99999999999999 - c.push(v % 1e14); - i += 2; - } - } - i = k / 2; - - // Node.js supporting crypto.randomBytes. - } else if (crypto.randomBytes) { - - // buffer - a = crypto.randomBytes(k *= 7); - - for (; i < k;) { - - // 0x1000000000000 is 2^48, 0x10000000000 is 2^40 - // 0x100000000 is 2^32, 0x1000000 is 2^24 - // 11111 11111111 11111111 11111111 11111111 11111111 11111111 - // 0 <= v < 9007199254740992 - v = ((a[i] & 31) * 0x1000000000000) + (a[i + 1] * 0x10000000000) + - (a[i + 2] * 0x100000000) + (a[i + 3] * 0x1000000) + - (a[i + 4] << 16) + (a[i + 5] << 8) + a[i + 6]; - - if (v >= 9e15) { - crypto.randomBytes(7).copy(a, i); - } else { - - // 0 <= (v % 1e14) <= 99999999999999 - c.push(v % 1e14); - i += 7; - } - } - i = k / 7; - } else { - CRYPTO = false; - throw Error - (bignumberError + 'crypto unavailable'); - } - } - - // Use Math.random. - if (!CRYPTO) { - - for (; i < k;) { - v = random53bitInt(); - if (v < 9e15) c[i++] = v % 1e14; - } - } - - k = c[--i]; - dp %= LOG_BASE; - - // Convert trailing digits to zeros according to dp. - if (k && dp) { - v = POWS_TEN[LOG_BASE - dp]; - c[i] = mathfloor(k / v) * v; - } - - // Remove trailing elements which are zero. - for (; c[i] === 0; c.pop(), i--); - - // Zero? - if (i < 0) { - c = [e = 0]; - } else { - - // Remove leading elements which are zero and adjust exponent accordingly. - for (e = -1 ; c[0] === 0; c.splice(0, 1), e -= LOG_BASE); - - // Count the digits of the first element of c to determine leading zeros, and... - for (i = 1, v = c[0]; v >= 10; v /= 10, i++); - - // adjust the exponent accordingly. - if (i < LOG_BASE) e -= LOG_BASE - i; - } - - rand.e = e; - rand.c = c; - return rand; - }; - })(); - - - /* - * Return a BigNumber whose value is the sum of the arguments. - * - * arguments {number|string|BigNumber} - */ - BigNumber.sum = function () { - var i = 1, - args = arguments, - sum = new BigNumber(args[0]); - for (; i < args.length;) sum = sum.plus(args[i++]); - return sum; - }; - - - // PRIVATE FUNCTIONS - - - // Called by BigNumber and BigNumber.prototype.toString. - convertBase = (function () { - var decimal = '0123456789'; - - /* - * Convert string of baseIn to an array of numbers of baseOut. - * Eg. toBaseOut('255', 10, 16) returns [15, 15]. - * Eg. toBaseOut('ff', 16, 10) returns [2, 5, 5]. - */ - function toBaseOut(str, baseIn, baseOut, alphabet) { - var j, - arr = [0], - arrL, - i = 0, - len = str.length; - - for (; i < len;) { - for (arrL = arr.length; arrL--; arr[arrL] *= baseIn); - - arr[0] += alphabet.indexOf(str.charAt(i++)); - - for (j = 0; j < arr.length; j++) { - - if (arr[j] > baseOut - 1) { - if (arr[j + 1] == null) arr[j + 1] = 0; - arr[j + 1] += arr[j] / baseOut | 0; - arr[j] %= baseOut; - } - } - } - - return arr.reverse(); - } - - // Convert a numeric string of baseIn to a numeric string of baseOut. - // If the caller is toString, we are converting from base 10 to baseOut. - // If the caller is BigNumber, we are converting from baseIn to base 10. - return function (str, baseIn, baseOut, sign, callerIsToString) { - var alphabet, d, e, k, r, x, xc, y, - i = str.indexOf('.'), - dp = DECIMAL_PLACES, - rm = ROUNDING_MODE; - - // Non-integer. - if (i >= 0) { - k = POW_PRECISION; - - // Unlimited precision. - POW_PRECISION = 0; - str = str.replace('.', ''); - y = new BigNumber(baseIn); - x = y.pow(str.length - i); - POW_PRECISION = k; - - // Convert str as if an integer, then restore the fraction part by dividing the - // result by its base raised to a power. - - y.c = toBaseOut(toFixedPoint(coeffToString(x.c), x.e, '0'), - 10, baseOut, decimal); - y.e = y.c.length; - } - - // Convert the number as integer. - - xc = toBaseOut(str, baseIn, baseOut, callerIsToString - ? (alphabet = ALPHABET, decimal) - : (alphabet = decimal, ALPHABET)); - - // xc now represents str as an integer and converted to baseOut. e is the exponent. - e = k = xc.length; - - // Remove trailing zeros. - for (; xc[--k] == 0; xc.pop()); - - // Zero? - if (!xc[0]) return alphabet.charAt(0); - - // Does str represent an integer? If so, no need for the division. - if (i < 0) { - --e; - } else { - x.c = xc; - x.e = e; - - // The sign is needed for correct rounding. - x.s = sign; - x = div(x, y, dp, rm, baseOut); - xc = x.c; - r = x.r; - e = x.e; - } - - // xc now represents str converted to baseOut. - - // THe index of the rounding digit. - d = e + dp + 1; - - // The rounding digit: the digit to the right of the digit that may be rounded up. - i = xc[d]; - - // Look at the rounding digits and mode to determine whether to round up. - - k = baseOut / 2; - r = r || d < 0 || xc[d + 1] != null; - - r = rm < 4 ? (i != null || r) && (rm == 0 || rm == (x.s < 0 ? 3 : 2)) - : i > k || i == k &&(rm == 4 || r || rm == 6 && xc[d - 1] & 1 || - rm == (x.s < 0 ? 8 : 7)); - - // If the index of the rounding digit is not greater than zero, or xc represents - // zero, then the result of the base conversion is zero or, if rounding up, a value - // such as 0.00001. - if (d < 1 || !xc[0]) { - - // 1^-dp or 0 - str = r ? toFixedPoint(alphabet.charAt(1), -dp, alphabet.charAt(0)) : alphabet.charAt(0); - } else { - - // Truncate xc to the required number of decimal places. - xc.length = d; - - // Round up? - if (r) { - - // Rounding up may mean the previous digit has to be rounded up and so on. - for (--baseOut; ++xc[--d] > baseOut;) { - xc[d] = 0; - - if (!d) { - ++e; - xc = [1].concat(xc); - } - } - } - - // Determine trailing zeros. - for (k = xc.length; !xc[--k];); - - // E.g. [4, 11, 15] becomes 4bf. - for (i = 0, str = ''; i <= k; str += alphabet.charAt(xc[i++])); - - // Add leading zeros, decimal point and trailing zeros as required. - str = toFixedPoint(str, e, alphabet.charAt(0)); - } - - // The caller will add the sign. - return str; - }; - })(); - - - // Perform division in the specified base. Called by div and convertBase. - div = (function () { - - // Assume non-zero x and k. - function multiply(x, k, base) { - var m, temp, xlo, xhi, - carry = 0, - i = x.length, - klo = k % SQRT_BASE, - khi = k / SQRT_BASE | 0; - - for (x = x.slice(); i--;) { - xlo = x[i] % SQRT_BASE; - xhi = x[i] / SQRT_BASE | 0; - m = khi * xlo + xhi * klo; - temp = klo * xlo + ((m % SQRT_BASE) * SQRT_BASE) + carry; - carry = (temp / base | 0) + (m / SQRT_BASE | 0) + khi * xhi; - x[i] = temp % base; - } - - if (carry) x = [carry].concat(x); - - return x; - } - - function compare(a, b, aL, bL) { - var i, cmp; - - if (aL != bL) { - cmp = aL > bL ? 1 : -1; - } else { - - for (i = cmp = 0; i < aL; i++) { - - if (a[i] != b[i]) { - cmp = a[i] > b[i] ? 1 : -1; - break; - } - } - } - - return cmp; - } - - function subtract(a, b, aL, base) { - var i = 0; - - // Subtract b from a. - for (; aL--;) { - a[aL] -= i; - i = a[aL] < b[aL] ? 1 : 0; - a[aL] = i * base + a[aL] - b[aL]; - } - - // Remove leading zeros. - for (; !a[0] && a.length > 1; a.splice(0, 1)); - } - - // x: dividend, y: divisor. - return function (x, y, dp, rm, base) { - var cmp, e, i, more, n, prod, prodL, q, qc, rem, remL, rem0, xi, xL, yc0, - yL, yz, - s = x.s == y.s ? 1 : -1, - xc = x.c, - yc = y.c; - - // Either NaN, Infinity or 0? - if (!xc || !xc[0] || !yc || !yc[0]) { - - return new BigNumber( - - // Return NaN if either NaN, or both Infinity or 0. - !x.s || !y.s || (xc ? yc && xc[0] == yc[0] : !yc) ? NaN : - - // Return ±0 if x is ±0 or y is ±Infinity, or return ±Infinity as y is ±0. - xc && xc[0] == 0 || !yc ? s * 0 : s / 0 - ); - } - - q = new BigNumber(s); - qc = q.c = []; - e = x.e - y.e; - s = dp + e + 1; - - if (!base) { - base = BASE; - e = bitFloor(x.e / LOG_BASE) - bitFloor(y.e / LOG_BASE); - s = s / LOG_BASE | 0; - } - - // Result exponent may be one less then the current value of e. - // The coefficients of the BigNumbers from convertBase may have trailing zeros. - for (i = 0; yc[i] == (xc[i] || 0); i++); - - if (yc[i] > (xc[i] || 0)) e--; - - if (s < 0) { - qc.push(1); - more = true; - } else { - xL = xc.length; - yL = yc.length; - i = 0; - s += 2; - - // Normalise xc and yc so highest order digit of yc is >= base / 2. - - n = mathfloor(base / (yc[0] + 1)); - - // Not necessary, but to handle odd bases where yc[0] == (base / 2) - 1. - // if (n > 1 || n++ == 1 && yc[0] < base / 2) { - if (n > 1) { - yc = multiply(yc, n, base); - xc = multiply(xc, n, base); - yL = yc.length; - xL = xc.length; - } - - xi = yL; - rem = xc.slice(0, yL); - remL = rem.length; - - // Add zeros to make remainder as long as divisor. - for (; remL < yL; rem[remL++] = 0); - yz = yc.slice(); - yz = [0].concat(yz); - yc0 = yc[0]; - if (yc[1] >= base / 2) yc0++; - // Not necessary, but to prevent trial digit n > base, when using base 3. - // else if (base == 3 && yc0 == 1) yc0 = 1 + 1e-15; - - do { - n = 0; - - // Compare divisor and remainder. - cmp = compare(yc, rem, yL, remL); - - // If divisor < remainder. - if (cmp < 0) { - - // Calculate trial digit, n. - - rem0 = rem[0]; - if (yL != remL) rem0 = rem0 * base + (rem[1] || 0); - - // n is how many times the divisor goes into the current remainder. - n = mathfloor(rem0 / yc0); - - // Algorithm: - // product = divisor multiplied by trial digit (n). - // Compare product and remainder. - // If product is greater than remainder: - // Subtract divisor from product, decrement trial digit. - // Subtract product from remainder. - // If product was less than remainder at the last compare: - // Compare new remainder and divisor. - // If remainder is greater than divisor: - // Subtract divisor from remainder, increment trial digit. - - if (n > 1) { - - // n may be > base only when base is 3. - if (n >= base) n = base - 1; - - // product = divisor * trial digit. - prod = multiply(yc, n, base); - prodL = prod.length; - remL = rem.length; - - // Compare product and remainder. - // If product > remainder then trial digit n too high. - // n is 1 too high about 5% of the time, and is not known to have - // ever been more than 1 too high. - while (compare(prod, rem, prodL, remL) == 1) { - n--; - - // Subtract divisor from product. - subtract(prod, yL < prodL ? yz : yc, prodL, base); - prodL = prod.length; - cmp = 1; - } - } else { - - // n is 0 or 1, cmp is -1. - // If n is 0, there is no need to compare yc and rem again below, - // so change cmp to 1 to avoid it. - // If n is 1, leave cmp as -1, so yc and rem are compared again. - if (n == 0) { - - // divisor < remainder, so n must be at least 1. - cmp = n = 1; - } - - // product = divisor - prod = yc.slice(); - prodL = prod.length; - } - - if (prodL < remL) prod = [0].concat(prod); - - // Subtract product from remainder. - subtract(rem, prod, remL, base); - remL = rem.length; - - // If product was < remainder. - if (cmp == -1) { - - // Compare divisor and new remainder. - // If divisor < new remainder, subtract divisor from remainder. - // Trial digit n too low. - // n is 1 too low about 5% of the time, and very rarely 2 too low. - while (compare(yc, rem, yL, remL) < 1) { - n++; - - // Subtract divisor from remainder. - subtract(rem, yL < remL ? yz : yc, remL, base); - remL = rem.length; - } - } - } else if (cmp === 0) { - n++; - rem = [0]; - } // else cmp === 1 and n will be 0 - - // Add the next digit, n, to the result array. - qc[i++] = n; - - // Update the remainder. - if (rem[0]) { - rem[remL++] = xc[xi] || 0; - } else { - rem = [xc[xi]]; - remL = 1; - } - } while ((xi++ < xL || rem[0] != null) && s--); - - more = rem[0] != null; - - // Leading zero? - if (!qc[0]) qc.splice(0, 1); - } - - if (base == BASE) { - - // To calculate q.e, first get the number of digits of qc[0]. - for (i = 1, s = qc[0]; s >= 10; s /= 10, i++); - - round(q, dp + (q.e = i + e * LOG_BASE - 1) + 1, rm, more); - - // Caller is convertBase. - } else { - q.e = e; - q.r = +more; - } - - return q; - }; - })(); - - - /* - * Return a string representing the value of BigNumber n in fixed-point or exponential - * notation rounded to the specified decimal places or significant digits. - * - * n: a BigNumber. - * i: the index of the last digit required (i.e. the digit that may be rounded up). - * rm: the rounding mode. - * id: 1 (toExponential) or 2 (toPrecision). - */ - function format(n, i, rm, id) { - var c0, e, ne, len, str; - - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - - if (!n.c) return n.toString(); - - c0 = n.c[0]; - ne = n.e; - - if (i == null) { - str = coeffToString(n.c); - str = id == 1 || id == 2 && (ne <= TO_EXP_NEG || ne >= TO_EXP_POS) - ? toExponential(str, ne) - : toFixedPoint(str, ne, '0'); - } else { - n = round(new BigNumber(n), i, rm); - - // n.e may have changed if the value was rounded up. - e = n.e; - - str = coeffToString(n.c); - len = str.length; - - // toPrecision returns exponential notation if the number of significant digits - // specified is less than the number of digits necessary to represent the integer - // part of the value in fixed-point notation. - - // Exponential notation. - if (id == 1 || id == 2 && (i <= e || e <= TO_EXP_NEG)) { - - // Append zeros? - for (; len < i; str += '0', len++); - str = toExponential(str, e); - - // Fixed-point notation. - } else { - i -= ne; - str = toFixedPoint(str, e, '0'); - - // Append zeros? - if (e + 1 > len) { - if (--i > 0) for (str += '.'; i--; str += '0'); - } else { - i += e - len; - if (i > 0) { - if (e + 1 == len) str += '.'; - for (; i--; str += '0'); - } - } - } - } - - return n.s < 0 && c0 ? '-' + str : str; - } - - - // Handle BigNumber.max and BigNumber.min. - function maxOrMin(args, method) { - var n, - i = 1, - m = new BigNumber(args[0]); - - for (; i < args.length; i++) { - n = new BigNumber(args[i]); - - // If any number is NaN, return NaN. - if (!n.s) { - m = n; - break; - } else if (method.call(m, n)) { - m = n; - } - } - - return m; - } - - - /* - * Strip trailing zeros, calculate base 10 exponent and check against MIN_EXP and MAX_EXP. - * Called by minus, plus and times. - */ - function normalise(n, c, e) { - var i = 1, - j = c.length; - - // Remove trailing zeros. - for (; !c[--j]; c.pop()); - - // Calculate the base 10 exponent. First get the number of digits of c[0]. - for (j = c[0]; j >= 10; j /= 10, i++); - - // Overflow? - if ((e = i + e * LOG_BASE - 1) > MAX_EXP) { - - // Infinity. - n.c = n.e = null; - - // Underflow? - } else if (e < MIN_EXP) { - - // Zero. - n.c = [n.e = 0]; - } else { - n.e = e; - n.c = c; - } - - return n; - } - - - // Handle values that fail the validity test in BigNumber. - parseNumeric = (function () { - var basePrefix = /^(-?)0([xbo])(?=\w[\w.]*$)/i, - dotAfter = /^([^.]+)\.$/, - dotBefore = /^\.([^.]+)$/, - isInfinityOrNaN = /^-?(Infinity|NaN)$/, - whitespaceOrPlus = /^\s*\+(?=[\w.])|^\s+|\s+$/g; - - return function (x, str, isNum, b) { - var base, - s = isNum ? str : str.replace(whitespaceOrPlus, ''); - - // No exception on ±Infinity or NaN. - if (isInfinityOrNaN.test(s)) { - x.s = isNaN(s) ? null : s < 0 ? -1 : 1; - } else { - if (!isNum) { - - // basePrefix = /^(-?)0([xbo])(?=\w[\w.]*$)/i - s = s.replace(basePrefix, function (m, p1, p2) { - base = (p2 = p2.toLowerCase()) == 'x' ? 16 : p2 == 'b' ? 2 : 8; - return !b || b == base ? p1 : m; - }); - - if (b) { - base = b; - - // E.g. '1.' to '1', '.1' to '0.1' - s = s.replace(dotAfter, '$1').replace(dotBefore, '0.$1'); - } - - if (str != s) return new BigNumber(s, base); - } - - // '[BigNumber Error] Not a number: {n}' - // '[BigNumber Error] Not a base {b} number: {n}' - if (BigNumber.DEBUG) { - throw Error - (bignumberError + 'Not a' + (b ? ' base ' + b : '') + ' number: ' + str); - } - - // NaN - x.s = null; - } - - x.c = x.e = null; - } - })(); - - - /* - * Round x to sd significant digits using rounding mode rm. Check for over/under-flow. - * If r is truthy, it is known that there are more digits after the rounding digit. - */ - function round(x, sd, rm, r) { - var d, i, j, k, n, ni, rd, - xc = x.c, - pows10 = POWS_TEN; - - // if x is not Infinity or NaN... - if (xc) { - - // rd is the rounding digit, i.e. the digit after the digit that may be rounded up. - // n is a base 1e14 number, the value of the element of array x.c containing rd. - // ni is the index of n within x.c. - // d is the number of digits of n. - // i is the index of rd within n including leading zeros. - // j is the actual index of rd within n (if < 0, rd is a leading zero). - out: { - - // Get the number of digits of the first element of xc. - for (d = 1, k = xc[0]; k >= 10; k /= 10, d++); - i = sd - d; - - // If the rounding digit is in the first element of xc... - if (i < 0) { - i += LOG_BASE; - j = sd; - n = xc[ni = 0]; - - // Get the rounding digit at index j of n. - rd = n / pows10[d - j - 1] % 10 | 0; - } else { - ni = mathceil((i + 1) / LOG_BASE); - - if (ni >= xc.length) { - - if (r) { - - // Needed by sqrt. - for (; xc.length <= ni; xc.push(0)); - n = rd = 0; - d = 1; - i %= LOG_BASE; - j = i - LOG_BASE + 1; - } else { - break out; - } - } else { - n = k = xc[ni]; - - // Get the number of digits of n. - for (d = 1; k >= 10; k /= 10, d++); - - // Get the index of rd within n. - i %= LOG_BASE; - - // Get the index of rd within n, adjusted for leading zeros. - // The number of leading zeros of n is given by LOG_BASE - d. - j = i - LOG_BASE + d; - - // Get the rounding digit at index j of n. - rd = j < 0 ? 0 : n / pows10[d - j - 1] % 10 | 0; - } - } - - r = r || sd < 0 || - - // Are there any non-zero digits after the rounding digit? - // The expression n % pows10[d - j - 1] returns all digits of n to the right - // of the digit at j, e.g. if n is 908714 and j is 2, the expression gives 714. - xc[ni + 1] != null || (j < 0 ? n : n % pows10[d - j - 1]); - - r = rm < 4 - ? (rd || r) && (rm == 0 || rm == (x.s < 0 ? 3 : 2)) - : rd > 5 || rd == 5 && (rm == 4 || r || rm == 6 && - - // Check whether the digit to the left of the rounding digit is odd. - ((i > 0 ? j > 0 ? n / pows10[d - j] : 0 : xc[ni - 1]) % 10) & 1 || - rm == (x.s < 0 ? 8 : 7)); - - if (sd < 1 || !xc[0]) { - xc.length = 0; - - if (r) { - - // Convert sd to decimal places. - sd -= x.e + 1; - - // 1, 0.1, 0.01, 0.001, 0.0001 etc. - xc[0] = pows10[(LOG_BASE - sd % LOG_BASE) % LOG_BASE]; - x.e = -sd || 0; - } else { - - // Zero. - xc[0] = x.e = 0; - } - - return x; - } - - // Remove excess digits. - if (i == 0) { - xc.length = ni; - k = 1; - ni--; - } else { - xc.length = ni + 1; - k = pows10[LOG_BASE - i]; - - // E.g. 56700 becomes 56000 if 7 is the rounding digit. - // j > 0 means i > number of leading zeros of n. - xc[ni] = j > 0 ? mathfloor(n / pows10[d - j] % pows10[j]) * k : 0; - } - - // Round up? - if (r) { - - for (; ;) { - - // If the digit to be rounded up is in the first element of xc... - if (ni == 0) { - - // i will be the length of xc[0] before k is added. - for (i = 1, j = xc[0]; j >= 10; j /= 10, i++); - j = xc[0] += k; - for (k = 1; j >= 10; j /= 10, k++); - - // if i != k the length has increased. - if (i != k) { - x.e++; - if (xc[0] == BASE) xc[0] = 1; - } - - break; - } else { - xc[ni] += k; - if (xc[ni] != BASE) break; - xc[ni--] = 0; - k = 1; - } - } - } - - // Remove trailing zeros. - for (i = xc.length; xc[--i] === 0; xc.pop()); - } - - // Overflow? Infinity. - if (x.e > MAX_EXP) { - x.c = x.e = null; - - // Underflow? Zero. - } else if (x.e < MIN_EXP) { - x.c = [x.e = 0]; - } - } - - return x; - } - - - function valueOf(n) { - var str, - e = n.e; - - if (e === null) return n.toString(); - - str = coeffToString(n.c); - - str = e <= TO_EXP_NEG || e >= TO_EXP_POS - ? toExponential(str, e) - : toFixedPoint(str, e, '0'); - - return n.s < 0 ? '-' + str : str; - } - - - // PROTOTYPE/INSTANCE METHODS - - - /* - * Return a new BigNumber whose value is the absolute value of this BigNumber. - */ - P.absoluteValue = P.abs = function () { - var x = new BigNumber(this); - if (x.s < 0) x.s = 1; - return x; - }; - - - /* - * Return - * 1 if the value of this BigNumber is greater than the value of BigNumber(y, b), - * -1 if the value of this BigNumber is less than the value of BigNumber(y, b), - * 0 if they have the same value, - * or null if the value of either is NaN. - */ - P.comparedTo = function (y, b) { - return compare(this, new BigNumber(y, b)); - }; - - - /* - * If dp is undefined or null or true or false, return the number of decimal places of the - * value of this BigNumber, or null if the value of this BigNumber is ±Infinity or NaN. - * - * Otherwise, if dp is a number, return a new BigNumber whose value is the value of this - * BigNumber rounded to a maximum of dp decimal places using rounding mode rm, or - * ROUNDING_MODE if rm is omitted. - * - * [dp] {number} Decimal places: integer, 0 to MAX inclusive. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp|rm}' - */ - P.decimalPlaces = P.dp = function (dp, rm) { - var c, n, v, - x = this; - - if (dp != null) { - intCheck(dp, 0, MAX); - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - - return round(new BigNumber(x), dp + x.e + 1, rm); - } - - if (!(c = x.c)) return null; - n = ((v = c.length - 1) - bitFloor(this.e / LOG_BASE)) * LOG_BASE; - - // Subtract the number of trailing zeros of the last number. - if (v = c[v]) for (; v % 10 == 0; v /= 10, n--); - if (n < 0) n = 0; - - return n; - }; - - - /* - * n / 0 = I - * n / N = N - * n / I = 0 - * 0 / n = 0 - * 0 / 0 = N - * 0 / N = N - * 0 / I = 0 - * N / n = N - * N / 0 = N - * N / N = N - * N / I = N - * I / n = I - * I / 0 = I - * I / N = N - * I / I = N - * - * Return a new BigNumber whose value is the value of this BigNumber divided by the value of - * BigNumber(y, b), rounded according to DECIMAL_PLACES and ROUNDING_MODE. - */ - P.dividedBy = P.div = function (y, b) { - return div(this, new BigNumber(y, b), DECIMAL_PLACES, ROUNDING_MODE); - }; - - - /* - * Return a new BigNumber whose value is the integer part of dividing the value of this - * BigNumber by the value of BigNumber(y, b). - */ - P.dividedToIntegerBy = P.idiv = function (y, b) { - return div(this, new BigNumber(y, b), 0, 1); - }; - - - /* - * Return a BigNumber whose value is the value of this BigNumber exponentiated by n. - * - * If m is present, return the result modulo m. - * If n is negative round according to DECIMAL_PLACES and ROUNDING_MODE. - * If POW_PRECISION is non-zero and m is not present, round to POW_PRECISION using ROUNDING_MODE. - * - * The modular power operation works efficiently when x, n, and m are integers, otherwise it - * is equivalent to calculating x.exponentiatedBy(n).modulo(m) with a POW_PRECISION of 0. - * - * n {number|string|BigNumber} The exponent. An integer. - * [m] {number|string|BigNumber} The modulus. - * - * '[BigNumber Error] Exponent not an integer: {n}' - */ - P.exponentiatedBy = P.pow = function (n, m) { - var half, isModExp, i, k, more, nIsBig, nIsNeg, nIsOdd, y, - x = this; - - n = new BigNumber(n); - - // Allow NaN and ±Infinity, but not other non-integers. - if (n.c && !n.isInteger()) { - throw Error - (bignumberError + 'Exponent not an integer: ' + valueOf(n)); - } - - if (m != null) m = new BigNumber(m); - - // Exponent of MAX_SAFE_INTEGER is 15. - nIsBig = n.e > 14; - - // If x is NaN, ±Infinity, ±0 or ±1, or n is ±Infinity, NaN or ±0. - if (!x.c || !x.c[0] || x.c[0] == 1 && !x.e && x.c.length == 1 || !n.c || !n.c[0]) { - - // The sign of the result of pow when x is negative depends on the evenness of n. - // If +n overflows to ±Infinity, the evenness of n would be not be known. - y = new BigNumber(Math.pow(+valueOf(x), nIsBig ? 2 - isOdd(n) : +valueOf(n))); - return m ? y.mod(m) : y; - } - - nIsNeg = n.s < 0; - - if (m) { - - // x % m returns NaN if abs(m) is zero, or m is NaN. - if (m.c ? !m.c[0] : !m.s) return new BigNumber(NaN); - - isModExp = !nIsNeg && x.isInteger() && m.isInteger(); - - if (isModExp) x = x.mod(m); - - // Overflow to ±Infinity: >=2**1e10 or >=1.0000024**1e15. - // Underflow to ±0: <=0.79**1e10 or <=0.9999975**1e15. - } else if (n.e > 9 && (x.e > 0 || x.e < -1 || (x.e == 0 - // [1, 240000000] - ? x.c[0] > 1 || nIsBig && x.c[1] >= 24e7 - // [80000000000000] [99999750000000] - : x.c[0] < 8e13 || nIsBig && x.c[0] <= 9999975e7))) { - - // If x is negative and n is odd, k = -0, else k = 0. - k = x.s < 0 && isOdd(n) ? -0 : 0; - - // If x >= 1, k = ±Infinity. - if (x.e > -1) k = 1 / k; - - // If n is negative return ±0, else return ±Infinity. - return new BigNumber(nIsNeg ? 1 / k : k); - - } else if (POW_PRECISION) { - - // Truncating each coefficient array to a length of k after each multiplication - // equates to truncating significant digits to POW_PRECISION + [28, 41], - // i.e. there will be a minimum of 28 guard digits retained. - k = mathceil(POW_PRECISION / LOG_BASE + 2); - } - - if (nIsBig) { - half = new BigNumber(0.5); - if (nIsNeg) n.s = 1; - nIsOdd = isOdd(n); - } else { - i = Math.abs(+valueOf(n)); - nIsOdd = i % 2; - } - - y = new BigNumber(ONE); - - // Performs 54 loop iterations for n of 9007199254740991. - for (; ;) { - - if (nIsOdd) { - y = y.times(x); - if (!y.c) break; - - if (k) { - if (y.c.length > k) y.c.length = k; - } else if (isModExp) { - y = y.mod(m); //y = y.minus(div(y, m, 0, MODULO_MODE).times(m)); - } - } - - if (i) { - i = mathfloor(i / 2); - if (i === 0) break; - nIsOdd = i % 2; - } else { - n = n.times(half); - round(n, n.e + 1, 1); - - if (n.e > 14) { - nIsOdd = isOdd(n); - } else { - i = +valueOf(n); - if (i === 0) break; - nIsOdd = i % 2; - } - } - - x = x.times(x); - - if (k) { - if (x.c && x.c.length > k) x.c.length = k; - } else if (isModExp) { - x = x.mod(m); //x = x.minus(div(x, m, 0, MODULO_MODE).times(m)); - } - } - - if (isModExp) return y; - if (nIsNeg) y = ONE.div(y); - - return m ? y.mod(m) : k ? round(y, POW_PRECISION, ROUNDING_MODE, more) : y; - }; - - - /* - * Return a new BigNumber whose value is the value of this BigNumber rounded to an integer - * using rounding mode rm, or ROUNDING_MODE if rm is omitted. - * - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {rm}' - */ - P.integerValue = function (rm) { - var n = new BigNumber(this); - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - return round(n, n.e + 1, rm); - }; - - - /* - * Return true if the value of this BigNumber is equal to the value of BigNumber(y, b), - * otherwise return false. - */ - P.isEqualTo = P.eq = function (y, b) { - return compare(this, new BigNumber(y, b)) === 0; - }; - - - /* - * Return true if the value of this BigNumber is a finite number, otherwise return false. - */ - P.isFinite = function () { - return !!this.c; - }; - - - /* - * Return true if the value of this BigNumber is greater than the value of BigNumber(y, b), - * otherwise return false. - */ - P.isGreaterThan = P.gt = function (y, b) { - return compare(this, new BigNumber(y, b)) > 0; - }; - - - /* - * Return true if the value of this BigNumber is greater than or equal to the value of - * BigNumber(y, b), otherwise return false. - */ - P.isGreaterThanOrEqualTo = P.gte = function (y, b) { - return (b = compare(this, new BigNumber(y, b))) === 1 || b === 0; - - }; - - - /* - * Return true if the value of this BigNumber is an integer, otherwise return false. - */ - P.isInteger = function () { - return !!this.c && bitFloor(this.e / LOG_BASE) > this.c.length - 2; - }; - - - /* - * Return true if the value of this BigNumber is less than the value of BigNumber(y, b), - * otherwise return false. - */ - P.isLessThan = P.lt = function (y, b) { - return compare(this, new BigNumber(y, b)) < 0; - }; - - - /* - * Return true if the value of this BigNumber is less than or equal to the value of - * BigNumber(y, b), otherwise return false. - */ - P.isLessThanOrEqualTo = P.lte = function (y, b) { - return (b = compare(this, new BigNumber(y, b))) === -1 || b === 0; - }; - - - /* - * Return true if the value of this BigNumber is NaN, otherwise return false. - */ - P.isNaN = function () { - return !this.s; - }; - - - /* - * Return true if the value of this BigNumber is negative, otherwise return false. - */ - P.isNegative = function () { - return this.s < 0; - }; - - - /* - * Return true if the value of this BigNumber is positive, otherwise return false. - */ - P.isPositive = function () { - return this.s > 0; - }; - - - /* - * Return true if the value of this BigNumber is 0 or -0, otherwise return false. - */ - P.isZero = function () { - return !!this.c && this.c[0] == 0; - }; - - - /* - * n - 0 = n - * n - N = N - * n - I = -I - * 0 - n = -n - * 0 - 0 = 0 - * 0 - N = N - * 0 - I = -I - * N - n = N - * N - 0 = N - * N - N = N - * N - I = N - * I - n = I - * I - 0 = I - * I - N = N - * I - I = N - * - * Return a new BigNumber whose value is the value of this BigNumber minus the value of - * BigNumber(y, b). - */ - P.minus = function (y, b) { - var i, j, t, xLTy, - x = this, - a = x.s; - - y = new BigNumber(y, b); - b = y.s; - - // Either NaN? - if (!a || !b) return new BigNumber(NaN); - - // Signs differ? - if (a != b) { - y.s = -b; - return x.plus(y); - } - - var xe = x.e / LOG_BASE, - ye = y.e / LOG_BASE, - xc = x.c, - yc = y.c; - - if (!xe || !ye) { - - // Either Infinity? - if (!xc || !yc) return xc ? (y.s = -b, y) : new BigNumber(yc ? x : NaN); - - // Either zero? - if (!xc[0] || !yc[0]) { - - // Return y if y is non-zero, x if x is non-zero, or zero if both are zero. - return yc[0] ? (y.s = -b, y) : new BigNumber(xc[0] ? x : - - // IEEE 754 (2008) 6.3: n - n = -0 when rounding to -Infinity - ROUNDING_MODE == 3 ? -0 : 0); - } - } - - xe = bitFloor(xe); - ye = bitFloor(ye); - xc = xc.slice(); - - // Determine which is the bigger number. - if (a = xe - ye) { - - if (xLTy = a < 0) { - a = -a; - t = xc; - } else { - ye = xe; - t = yc; - } - - t.reverse(); - - // Prepend zeros to equalise exponents. - for (b = a; b--; t.push(0)); - t.reverse(); - } else { - - // Exponents equal. Check digit by digit. - j = (xLTy = (a = xc.length) < (b = yc.length)) ? a : b; - - for (a = b = 0; b < j; b++) { - - if (xc[b] != yc[b]) { - xLTy = xc[b] < yc[b]; - break; - } - } - } - - // x < y? Point xc to the array of the bigger number. - if (xLTy) t = xc, xc = yc, yc = t, y.s = -y.s; - - b = (j = yc.length) - (i = xc.length); - - // Append zeros to xc if shorter. - // No need to add zeros to yc if shorter as subtract only needs to start at yc.length. - if (b > 0) for (; b--; xc[i++] = 0); - b = BASE - 1; - - // Subtract yc from xc. - for (; j > a;) { - - if (xc[--j] < yc[j]) { - for (i = j; i && !xc[--i]; xc[i] = b); - --xc[i]; - xc[j] += BASE; - } - - xc[j] -= yc[j]; - } - - // Remove leading zeros and adjust exponent accordingly. - for (; xc[0] == 0; xc.splice(0, 1), --ye); - - // Zero? - if (!xc[0]) { - - // Following IEEE 754 (2008) 6.3, - // n - n = +0 but n - n = -0 when rounding towards -Infinity. - y.s = ROUNDING_MODE == 3 ? -1 : 1; - y.c = [y.e = 0]; - return y; - } - - // No need to check for Infinity as +x - +y != Infinity && -x - -y != Infinity - // for finite x and y. - return normalise(y, xc, ye); - }; - - - /* - * n % 0 = N - * n % N = N - * n % I = n - * 0 % n = 0 - * -0 % n = -0 - * 0 % 0 = N - * 0 % N = N - * 0 % I = 0 - * N % n = N - * N % 0 = N - * N % N = N - * N % I = N - * I % n = N - * I % 0 = N - * I % N = N - * I % I = N - * - * Return a new BigNumber whose value is the value of this BigNumber modulo the value of - * BigNumber(y, b). The result depends on the value of MODULO_MODE. - */ - P.modulo = P.mod = function (y, b) { - var q, s, - x = this; - - y = new BigNumber(y, b); - - // Return NaN if x is Infinity or NaN, or y is NaN or zero. - if (!x.c || !y.s || y.c && !y.c[0]) { - return new BigNumber(NaN); - - // Return x if y is Infinity or x is zero. - } else if (!y.c || x.c && !x.c[0]) { - return new BigNumber(x); - } - - if (MODULO_MODE == 9) { - - // Euclidian division: q = sign(y) * floor(x / abs(y)) - // r = x - qy where 0 <= r < abs(y) - s = y.s; - y.s = 1; - q = div(x, y, 0, 3); - y.s = s; - q.s *= s; - } else { - q = div(x, y, 0, MODULO_MODE); - } - - y = x.minus(q.times(y)); - - // To match JavaScript %, ensure sign of zero is sign of dividend. - if (!y.c[0] && MODULO_MODE == 1) y.s = x.s; - - return y; - }; - - - /* - * n * 0 = 0 - * n * N = N - * n * I = I - * 0 * n = 0 - * 0 * 0 = 0 - * 0 * N = N - * 0 * I = N - * N * n = N - * N * 0 = N - * N * N = N - * N * I = N - * I * n = I - * I * 0 = N - * I * N = N - * I * I = I - * - * Return a new BigNumber whose value is the value of this BigNumber multiplied by the value - * of BigNumber(y, b). - */ - P.multipliedBy = P.times = function (y, b) { - var c, e, i, j, k, m, xcL, xlo, xhi, ycL, ylo, yhi, zc, - base, sqrtBase, - x = this, - xc = x.c, - yc = (y = new BigNumber(y, b)).c; - - // Either NaN, ±Infinity or ±0? - if (!xc || !yc || !xc[0] || !yc[0]) { - - // Return NaN if either is NaN, or one is 0 and the other is Infinity. - if (!x.s || !y.s || xc && !xc[0] && !yc || yc && !yc[0] && !xc) { - y.c = y.e = y.s = null; - } else { - y.s *= x.s; - - // Return ±Infinity if either is ±Infinity. - if (!xc || !yc) { - y.c = y.e = null; - - // Return ±0 if either is ±0. - } else { - y.c = [0]; - y.e = 0; - } - } - - return y; - } - - e = bitFloor(x.e / LOG_BASE) + bitFloor(y.e / LOG_BASE); - y.s *= x.s; - xcL = xc.length; - ycL = yc.length; - - // Ensure xc points to longer array and xcL to its length. - if (xcL < ycL) zc = xc, xc = yc, yc = zc, i = xcL, xcL = ycL, ycL = i; - - // Initialise the result array with zeros. - for (i = xcL + ycL, zc = []; i--; zc.push(0)); - - base = BASE; - sqrtBase = SQRT_BASE; - - for (i = ycL; --i >= 0;) { - c = 0; - ylo = yc[i] % sqrtBase; - yhi = yc[i] / sqrtBase | 0; - - for (k = xcL, j = i + k; j > i;) { - xlo = xc[--k] % sqrtBase; - xhi = xc[k] / sqrtBase | 0; - m = yhi * xlo + xhi * ylo; - xlo = ylo * xlo + ((m % sqrtBase) * sqrtBase) + zc[j] + c; - c = (xlo / base | 0) + (m / sqrtBase | 0) + yhi * xhi; - zc[j--] = xlo % base; - } - - zc[j] = c; - } - - if (c) { - ++e; - } else { - zc.splice(0, 1); - } - - return normalise(y, zc, e); - }; - - - /* - * Return a new BigNumber whose value is the value of this BigNumber negated, - * i.e. multiplied by -1. - */ - P.negated = function () { - var x = new BigNumber(this); - x.s = -x.s || null; - return x; - }; - - - /* - * n + 0 = n - * n + N = N - * n + I = I - * 0 + n = n - * 0 + 0 = 0 - * 0 + N = N - * 0 + I = I - * N + n = N - * N + 0 = N - * N + N = N - * N + I = N - * I + n = I - * I + 0 = I - * I + N = N - * I + I = I - * - * Return a new BigNumber whose value is the value of this BigNumber plus the value of - * BigNumber(y, b). - */ - P.plus = function (y, b) { - var t, - x = this, - a = x.s; - - y = new BigNumber(y, b); - b = y.s; - - // Either NaN? - if (!a || !b) return new BigNumber(NaN); - - // Signs differ? - if (a != b) { - y.s = -b; - return x.minus(y); - } - - var xe = x.e / LOG_BASE, - ye = y.e / LOG_BASE, - xc = x.c, - yc = y.c; - - if (!xe || !ye) { - - // Return ±Infinity if either ±Infinity. - if (!xc || !yc) return new BigNumber(a / 0); - - // Either zero? - // Return y if y is non-zero, x if x is non-zero, or zero if both are zero. - if (!xc[0] || !yc[0]) return yc[0] ? y : new BigNumber(xc[0] ? x : a * 0); - } - - xe = bitFloor(xe); - ye = bitFloor(ye); - xc = xc.slice(); - - // Prepend zeros to equalise exponents. Faster to use reverse then do unshifts. - if (a = xe - ye) { - if (a > 0) { - ye = xe; - t = yc; - } else { - a = -a; - t = xc; - } - - t.reverse(); - for (; a--; t.push(0)); - t.reverse(); - } - - a = xc.length; - b = yc.length; - - // Point xc to the longer array, and b to the shorter length. - if (a - b < 0) t = yc, yc = xc, xc = t, b = a; - - // Only start adding at yc.length - 1 as the further digits of xc can be ignored. - for (a = 0; b;) { - a = (xc[--b] = xc[b] + yc[b] + a) / BASE | 0; - xc[b] = BASE === xc[b] ? 0 : xc[b] % BASE; - } - - if (a) { - xc = [a].concat(xc); - ++ye; - } - - // No need to check for zero, as +x + +y != 0 && -x + -y != 0 - // ye = MAX_EXP + 1 possible - return normalise(y, xc, ye); - }; - - - /* - * If sd is undefined or null or true or false, return the number of significant digits of - * the value of this BigNumber, or null if the value of this BigNumber is ±Infinity or NaN. - * If sd is true include integer-part trailing zeros in the count. - * - * Otherwise, if sd is a number, return a new BigNumber whose value is the value of this - * BigNumber rounded to a maximum of sd significant digits using rounding mode rm, or - * ROUNDING_MODE if rm is omitted. - * - * sd {number|boolean} number: significant digits: integer, 1 to MAX inclusive. - * boolean: whether to count integer-part trailing zeros: true or false. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {sd|rm}' - */ - P.precision = P.sd = function (sd, rm) { - var c, n, v, - x = this; - - if (sd != null && sd !== !!sd) { - intCheck(sd, 1, MAX); - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - - return round(new BigNumber(x), sd, rm); - } - - if (!(c = x.c)) return null; - v = c.length - 1; - n = v * LOG_BASE + 1; - - if (v = c[v]) { - - // Subtract the number of trailing zeros of the last element. - for (; v % 10 == 0; v /= 10, n--); - - // Add the number of digits of the first element. - for (v = c[0]; v >= 10; v /= 10, n++); - } - - if (sd && x.e + 1 > n) n = x.e + 1; - - return n; - }; - - - /* - * Return a new BigNumber whose value is the value of this BigNumber shifted by k places - * (powers of 10). Shift to the right if n > 0, and to the left if n < 0. - * - * k {number} Integer, -MAX_SAFE_INTEGER to MAX_SAFE_INTEGER inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {k}' - */ - P.shiftedBy = function (k) { - intCheck(k, -MAX_SAFE_INTEGER, MAX_SAFE_INTEGER); - return this.times('1e' + k); - }; - - - /* - * sqrt(-n) = N - * sqrt(N) = N - * sqrt(-I) = N - * sqrt(I) = I - * sqrt(0) = 0 - * sqrt(-0) = -0 - * - * Return a new BigNumber whose value is the square root of the value of this BigNumber, - * rounded according to DECIMAL_PLACES and ROUNDING_MODE. - */ - P.squareRoot = P.sqrt = function () { - var m, n, r, rep, t, - x = this, - c = x.c, - s = x.s, - e = x.e, - dp = DECIMAL_PLACES + 4, - half = new BigNumber('0.5'); - - // Negative/NaN/Infinity/zero? - if (s !== 1 || !c || !c[0]) { - return new BigNumber(!s || s < 0 && (!c || c[0]) ? NaN : c ? x : 1 / 0); - } - - // Initial estimate. - s = Math.sqrt(+valueOf(x)); - - // Math.sqrt underflow/overflow? - // Pass x to Math.sqrt as integer, then adjust the exponent of the result. - if (s == 0 || s == 1 / 0) { - n = coeffToString(c); - if ((n.length + e) % 2 == 0) n += '0'; - s = Math.sqrt(+n); - e = bitFloor((e + 1) / 2) - (e < 0 || e % 2); - - if (s == 1 / 0) { - n = '1e' + e; - } else { - n = s.toExponential(); - n = n.slice(0, n.indexOf('e') + 1) + e; - } - - r = new BigNumber(n); - } else { - r = new BigNumber(s + ''); - } - - // Check for zero. - // r could be zero if MIN_EXP is changed after the this value was created. - // This would cause a division by zero (x/t) and hence Infinity below, which would cause - // coeffToString to throw. - if (r.c[0]) { - e = r.e; - s = e + dp; - if (s < 3) s = 0; - - // Newton-Raphson iteration. - for (; ;) { - t = r; - r = half.times(t.plus(div(x, t, dp, 1))); - - if (coeffToString(t.c).slice(0, s) === (n = coeffToString(r.c)).slice(0, s)) { - - // The exponent of r may here be one less than the final result exponent, - // e.g 0.0009999 (e-4) --> 0.001 (e-3), so adjust s so the rounding digits - // are indexed correctly. - if (r.e < e) --s; - n = n.slice(s - 3, s + 1); - - // The 4th rounding digit may be in error by -1 so if the 4 rounding digits - // are 9999 or 4999 (i.e. approaching a rounding boundary) continue the - // iteration. - if (n == '9999' || !rep && n == '4999') { - - // On the first iteration only, check to see if rounding up gives the - // exact result as the nines may infinitely repeat. - if (!rep) { - round(t, t.e + DECIMAL_PLACES + 2, 0); - - if (t.times(t).eq(x)) { - r = t; - break; - } - } - - dp += 4; - s += 4; - rep = 1; - } else { - - // If rounding digits are null, 0{0,4} or 50{0,3}, check for exact - // result. If not, then there are further digits and m will be truthy. - if (!+n || !+n.slice(1) && n.charAt(0) == '5') { - - // Truncate to the first rounding digit. - round(r, r.e + DECIMAL_PLACES + 2, 1); - m = !r.times(r).eq(x); - } - - break; - } - } - } - } - - return round(r, r.e + DECIMAL_PLACES + 1, ROUNDING_MODE, m); - }; - - - /* - * Return a string representing the value of this BigNumber in exponential notation and - * rounded using ROUNDING_MODE to dp fixed decimal places. - * - * [dp] {number} Decimal places. Integer, 0 to MAX inclusive. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp|rm}' - */ - P.toExponential = function (dp, rm) { - if (dp != null) { - intCheck(dp, 0, MAX); - dp++; - } - return format(this, dp, rm, 1); - }; - - - /* - * Return a string representing the value of this BigNumber in fixed-point notation rounding - * to dp fixed decimal places using rounding mode rm, or ROUNDING_MODE if rm is omitted. - * - * Note: as with JavaScript's number type, (-0).toFixed(0) is '0', - * but e.g. (-0.00001).toFixed(0) is '-0'. - * - * [dp] {number} Decimal places. Integer, 0 to MAX inclusive. - * [rm] {number} Rounding mode. 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If equidistant, towards -Infinity. - ROUNDING_MODE = 4, // 0 to 8 - - // EXPONENTIAL_AT : [TO_EXP_NEG , TO_EXP_POS] - - // The exponent value at and beneath which toString returns exponential notation. - // Number type: -7 - TO_EXP_NEG = -7, // 0 to -MAX - - // The exponent value at and above which toString returns exponential notation. - // Number type: 21 - TO_EXP_POS = 21, // 0 to MAX - - // RANGE : [MIN_EXP, MAX_EXP] - - // The minimum exponent value, beneath which underflow to zero occurs. - // Number type: -324 (5e-324) - MIN_EXP = -1e7, // -1 to -MAX - - // The maximum exponent value, above which overflow to Infinity occurs. - // Number type: 308 (1.7976931348623157e+308) - // For MAX_EXP > 1e7, e.g. new BigNumber('1e100000000').plus(1) may be slow. - MAX_EXP = 1e7, // 1 to MAX - - // Whether to use cryptographically-secure random number generation, if available. - CRYPTO = false, // true or false - - // The modulo mode used when calculating the modulus: a mod n. - // The quotient (q = a / n) is calculated according to the corresponding rounding mode. - // The remainder (r) is calculated as: r = a - n * q. - // - // UP 0 The remainder is positive if the dividend is negative, else is negative. - // DOWN 1 The remainder has the same sign as the dividend. - // This modulo mode is commonly known as 'truncated division' and is - // equivalent to (a % n) in JavaScript. - // FLOOR 3 The remainder has the same sign as the divisor (Python %). - // HALF_EVEN 6 This modulo mode implements the IEEE 754 remainder function. - // EUCLID 9 Euclidian division. q = sign(n) * floor(a / abs(n)). - // The remainder is always positive. - // - // The truncated division, floored division, Euclidian division and IEEE 754 remainder - // modes are commonly used for the modulus operation. - // Although the other rounding modes can also be used, they may not give useful results. - MODULO_MODE = 1, // 0 to 9 - - // The maximum number of significant digits of the result of the exponentiatedBy operation. - // If POW_PRECISION is 0, there will be unlimited significant digits. - POW_PRECISION = 0, // 0 to MAX - - // The format specification used by the BigNumber.prototype.toFormat method. - FORMAT = { - prefix: '', - groupSize: 3, - secondaryGroupSize: 0, - groupSeparator: ',', - decimalSeparator: '.', - fractionGroupSize: 0, - fractionGroupSeparator: '\xA0', // non-breaking space - suffix: '' - }, - - // The alphabet used for base conversion. It must be at least 2 characters long, with no '+', - // '-', '.', whitespace, or repeated character. - // '0123456789abcdefghijklmnopqrstuvwxyzABCDEFGHIJKLMNOPQRSTUVWXYZ$_' - ALPHABET = '0123456789abcdefghijklmnopqrstuvwxyz'; - - - //------------------------------------------------------------------------------------------ - - - // CONSTRUCTOR - - - /* - * The BigNumber constructor and exported function. - * Create and return a new instance of a BigNumber object. - * - * v {number|string|BigNumber} A numeric value. - * [b] {number} The base of v. Integer, 2 to ALPHABET.length inclusive. - */ - function BigNumber(v, b) { - var alphabet, c, caseChanged, e, i, isNum, len, str, - x = this; - - // Enable constructor call without `new`. - if (!(x instanceof BigNumber)) return new BigNumber(v, b); - - if (b == null) { - - if (v && v._isBigNumber === true) { - x.s = v.s; - - if (!v.c || v.e > MAX_EXP) { - x.c = x.e = null; - } else if (v.e < MIN_EXP) { - x.c = [x.e = 0]; - } else { - x.e = v.e; - x.c = v.c.slice(); - } - - return; - } - - if ((isNum = typeof v == 'number') && v * 0 == 0) { - - // Use `1 / n` to handle minus zero also. - x.s = 1 / v < 0 ? (v = -v, -1) : 1; - - // Fast path for integers, where n < 2147483648 (2**31). - if (v === ~~v) { - for (e = 0, i = v; i >= 10; i /= 10, e++); - - if (e > MAX_EXP) { - x.c = x.e = null; - } else { - x.e = e; - x.c = [v]; - } - - return; - } - - str = String(v); - } else { - - if (!isNumeric.test(str = String(v))) return parseNumeric(x, str, isNum); - - x.s = str.charCodeAt(0) == 45 ? (str = str.slice(1), -1) : 1; - } - - // Decimal point? - if ((e = str.indexOf('.')) > -1) str = str.replace('.', ''); - - // Exponential form? - if ((i = str.search(/e/i)) > 0) { - - // Determine exponent. - if (e < 0) e = i; - e += +str.slice(i + 1); - str = str.substring(0, i); - } else if (e < 0) { - - // Integer. - e = str.length; - } - - } else { - - // '[BigNumber Error] Base {not a primitive number|not an integer|out of range}: {b}' - intCheck(b, 2, ALPHABET.length, 'Base'); - - // Allow exponential notation to be used with base 10 argument, while - // also rounding to DECIMAL_PLACES as with other bases. - if (b == 10) { - x = new BigNumber(v); - return round(x, DECIMAL_PLACES + x.e + 1, ROUNDING_MODE); - } - - str = String(v); - - if (isNum = typeof v == 'number') { - - // Avoid potential interpretation of Infinity and NaN as base 44+ values. - if (v * 0 != 0) return parseNumeric(x, str, isNum, b); - - x.s = 1 / v < 0 ? (str = str.slice(1), -1) : 1; - - // '[BigNumber Error] Number primitive has more than 15 significant digits: {n}' - if (BigNumber.DEBUG && str.replace(/^0\.0*|\./, '').length > 15) { - throw Error - (tooManyDigits + v); - } - } else { - x.s = str.charCodeAt(0) === 45 ? (str = str.slice(1), -1) : 1; - } - - alphabet = ALPHABET.slice(0, b); - e = i = 0; - - // Check that str is a valid base b number. - // Don't use RegExp, so alphabet can contain special characters. - for (len = str.length; i < len; i++) { - if (alphabet.indexOf(c = str.charAt(i)) < 0) { - if (c == '.') { - - // If '.' is not the first character and it has not be found before. - if (i > e) { - e = len; - continue; - } - } else if (!caseChanged) { - - // Allow e.g. hexadecimal 'FF' as well as 'ff'. - if (str == str.toUpperCase() && (str = str.toLowerCase()) || - str == str.toLowerCase() && (str = str.toUpperCase())) { - caseChanged = true; - i = -1; - e = 0; - continue; - } - } - - return parseNumeric(x, String(v), isNum, b); - } - } - - // Prevent later check for length on converted number. - isNum = false; - str = convertBase(str, b, 10, x.s); - - // Decimal point? - if ((e = str.indexOf('.')) > -1) str = str.replace('.', ''); - else e = str.length; - } - - // Determine leading zeros. - for (i = 0; str.charCodeAt(i) === 48; i++); - - // Determine trailing zeros. - for (len = str.length; str.charCodeAt(--len) === 48;); - - if (str = str.slice(i, ++len)) { - len -= i; - - // '[BigNumber Error] Number primitive has more than 15 significant digits: {n}' - if (isNum && BigNumber.DEBUG && - len > 15 && (v > MAX_SAFE_INTEGER || v !== mathfloor(v))) { - throw Error - (tooManyDigits + (x.s * v)); - } - - // Overflow? - if ((e = e - i - 1) > MAX_EXP) { - - // Infinity. - x.c = x.e = null; - - // Underflow? - } else if (e < MIN_EXP) { - - // Zero. - x.c = [x.e = 0]; - } else { - x.e = e; - x.c = []; - - // Transform base - - // e is the base 10 exponent. - // i is where to slice str to get the first element of the coefficient array. - i = (e + 1) % LOG_BASE; - if (e < 0) i += LOG_BASE; // i < 1 - - if (i < len) { - if (i) x.c.push(+str.slice(0, i)); - - for (len -= LOG_BASE; i < len;) { - x.c.push(+str.slice(i, i += LOG_BASE)); - } - - i = LOG_BASE - (str = str.slice(i)).length; - } else { - i -= len; - } - - for (; i--; str += '0'); - x.c.push(+str); - } - } else { - - // Zero. - x.c = [x.e = 0]; - } - } - - - // CONSTRUCTOR PROPERTIES - - - BigNumber.clone = clone; - - BigNumber.ROUND_UP = 0; - BigNumber.ROUND_DOWN = 1; - BigNumber.ROUND_CEIL = 2; - BigNumber.ROUND_FLOOR = 3; - BigNumber.ROUND_HALF_UP = 4; - BigNumber.ROUND_HALF_DOWN = 5; - BigNumber.ROUND_HALF_EVEN = 6; - BigNumber.ROUND_HALF_CEIL = 7; - BigNumber.ROUND_HALF_FLOOR = 8; - BigNumber.EUCLID = 9; - - - /* - * Configure infrequently-changing library-wide settings. - * - * Accept an object with the following optional properties (if the value of a property is - * a number, it must be an integer within the inclusive range stated): - * - * DECIMAL_PLACES {number} 0 to MAX - * ROUNDING_MODE {number} 0 to 8 - * EXPONENTIAL_AT {number|number[]} -MAX to MAX or [-MAX to 0, 0 to MAX] - * RANGE {number|number[]} -MAX to MAX (not zero) or [-MAX to -1, 1 to MAX] - * CRYPTO {boolean} true or false - * MODULO_MODE {number} 0 to 9 - * POW_PRECISION {number} 0 to MAX - * ALPHABET {string} A string of two or more unique characters which does - * not contain '.'. - * FORMAT {object} An object with some of the following properties: - * prefix {string} - * groupSize {number} - * secondaryGroupSize {number} - * groupSeparator {string} - * decimalSeparator {string} - * fractionGroupSize {number} - * fractionGroupSeparator {string} - * suffix {string} - * - * (The values assigned to the above FORMAT object properties are not checked for validity.) - * - * E.g. - * BigNumber.config({ DECIMAL_PLACES : 20, ROUNDING_MODE : 4 }) - * - * Ignore properties/parameters set to null or undefined, except for ALPHABET. - * - * Return an object with the properties current values. - */ - BigNumber.config = BigNumber.set = function (obj) { - var p, v; - - if (obj != null) { - - if (typeof obj == 'object') { - - // DECIMAL_PLACES {number} Integer, 0 to MAX inclusive. - // '[BigNumber Error] DECIMAL_PLACES {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'DECIMAL_PLACES')) { - v = obj[p]; - intCheck(v, 0, MAX, p); - DECIMAL_PLACES = v; - } - - // ROUNDING_MODE {number} Integer, 0 to 8 inclusive. - // '[BigNumber Error] ROUNDING_MODE {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'ROUNDING_MODE')) { - v = obj[p]; - intCheck(v, 0, 8, p); - ROUNDING_MODE = v; - } - - // EXPONENTIAL_AT {number|number[]} - // Integer, -MAX to MAX inclusive or - // [integer -MAX to 0 inclusive, 0 to MAX inclusive]. - // '[BigNumber Error] EXPONENTIAL_AT {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'EXPONENTIAL_AT')) { - v = obj[p]; - if (v && v.pop) { - intCheck(v[0], -MAX, 0, p); - intCheck(v[1], 0, MAX, p); - TO_EXP_NEG = v[0]; - TO_EXP_POS = v[1]; - } else { - intCheck(v, -MAX, MAX, p); - TO_EXP_NEG = -(TO_EXP_POS = v < 0 ? -v : v); - } - } - - // RANGE {number|number[]} Non-zero integer, -MAX to MAX inclusive or - // [integer -MAX to -1 inclusive, integer 1 to MAX inclusive]. - // '[BigNumber Error] RANGE {not a primitive number|not an integer|out of range|cannot be zero}: {v}' - if (obj.hasOwnProperty(p = 'RANGE')) { - v = obj[p]; - if (v && v.pop) { - intCheck(v[0], -MAX, -1, p); - intCheck(v[1], 1, MAX, p); - MIN_EXP = v[0]; - MAX_EXP = v[1]; - } else { - intCheck(v, -MAX, MAX, p); - if (v) { - MIN_EXP = -(MAX_EXP = v < 0 ? -v : v); - } else { - throw Error - (bignumberError + p + ' cannot be zero: ' + v); - } - } - } - - // CRYPTO {boolean} true or false. - // '[BigNumber Error] CRYPTO not true or false: {v}' - // '[BigNumber Error] crypto unavailable' - if (obj.hasOwnProperty(p = 'CRYPTO')) { - v = obj[p]; - if (v === !!v) { - if (v) { - if (typeof crypto != 'undefined' && crypto && - (crypto.getRandomValues || crypto.randomBytes)) { - CRYPTO = v; - } else { - CRYPTO = !v; - throw Error - (bignumberError + 'crypto unavailable'); - } - } else { - CRYPTO = v; - } - } else { - throw Error - (bignumberError + p + ' not true or false: ' + v); - } - } - - // MODULO_MODE {number} Integer, 0 to 9 inclusive. - // '[BigNumber Error] MODULO_MODE {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'MODULO_MODE')) { - v = obj[p]; - intCheck(v, 0, 9, p); - MODULO_MODE = v; - } - - // POW_PRECISION {number} Integer, 0 to MAX inclusive. - // '[BigNumber Error] POW_PRECISION {not a primitive number|not an integer|out of range}: {v}' - if (obj.hasOwnProperty(p = 'POW_PRECISION')) { - v = obj[p]; - intCheck(v, 0, MAX, p); - POW_PRECISION = v; - } - - // FORMAT {object} - // '[BigNumber Error] FORMAT not an object: {v}' - if (obj.hasOwnProperty(p = 'FORMAT')) { - v = obj[p]; - if (typeof v == 'object') FORMAT = v; - else throw Error - (bignumberError + p + ' not an object: ' + v); - } - - // ALPHABET {string} - // '[BigNumber Error] ALPHABET invalid: {v}' - if (obj.hasOwnProperty(p = 'ALPHABET')) { - v = obj[p]; - - // Disallow if only one character, - // or if it contains '+', '-', '.', whitespace, or a repeated character. - if (typeof v == 'string' && !/^.$|[+-.\s]|(.).*\1/.test(v)) { - ALPHABET = v; - } else { - throw Error - (bignumberError + p + ' invalid: ' + v); - } - } - - } else { - - // '[BigNumber Error] Object expected: {v}' - throw Error - (bignumberError + 'Object expected: ' + obj); - } - } - - return { - DECIMAL_PLACES: DECIMAL_PLACES, - ROUNDING_MODE: ROUNDING_MODE, - EXPONENTIAL_AT: [TO_EXP_NEG, TO_EXP_POS], - RANGE: [MIN_EXP, MAX_EXP], - CRYPTO: CRYPTO, - MODULO_MODE: MODULO_MODE, - POW_PRECISION: POW_PRECISION, - FORMAT: FORMAT, - ALPHABET: ALPHABET - }; - }; - - - /* - * Return true if v is a BigNumber instance, otherwise return false. - * - * If BigNumber.DEBUG is true, throw if a BigNumber instance is not well-formed. - * - * v {any} - * - * '[BigNumber Error] Invalid BigNumber: {v}' - */ - BigNumber.isBigNumber = function (v) { - if (!v || v._isBigNumber !== true) return false; - if (!BigNumber.DEBUG) return true; - - var i, n, - c = v.c, - e = v.e, - s = v.s; - - out: if ({}.toString.call(c) == '[object Array]') { - - if ((s === 1 || s === -1) && e >= -MAX && e <= MAX && e === mathfloor(e)) { - - // If the first element is zero, the BigNumber value must be zero. - if (c[0] === 0) { - if (e === 0 && c.length === 1) return true; - break out; - } - - // Calculate number of digits that c[0] should have, based on the exponent. - i = (e + 1) % LOG_BASE; - if (i < 1) i += LOG_BASE; - - // Calculate number of digits of c[0]. - //if (Math.ceil(Math.log(c[0] + 1) / Math.LN10) == i) { - if (String(c[0]).length == i) { - - for (i = 0; i < c.length; i++) { - n = c[i]; - if (n < 0 || n >= BASE || n !== mathfloor(n)) break out; - } - - // Last element cannot be zero, unless it is the only element. - if (n !== 0) return true; - } - } - - // Infinity/NaN - } else if (c === null && e === null && (s === null || s === 1 || s === -1)) { - return true; - } - - throw Error - (bignumberError + 'Invalid BigNumber: ' + v); - }; - - - /* - * Return a new BigNumber whose value is the maximum of the arguments. - * - * arguments {number|string|BigNumber} - */ - BigNumber.maximum = BigNumber.max = function () { - return maxOrMin(arguments, P.lt); - }; - - - /* - * Return a new BigNumber whose value is the minimum of the arguments. - * - * arguments {number|string|BigNumber} - */ - BigNumber.minimum = BigNumber.min = function () { - return maxOrMin(arguments, P.gt); - }; - - - /* - * Return a new BigNumber with a random value equal to or greater than 0 and less than 1, - * and with dp, or DECIMAL_PLACES if dp is omitted, decimal places (or less if trailing - * zeros are produced). - * - * [dp] {number} Decimal places. Integer, 0 to MAX inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp}' - * '[BigNumber Error] crypto unavailable' - */ - BigNumber.random = (function () { - var pow2_53 = 0x20000000000000; - - // Return a 53 bit integer n, where 0 <= n < 9007199254740992. - // Check if Math.random() produces more than 32 bits of randomness. - // If it does, assume at least 53 bits are produced, otherwise assume at least 30 bits. - // 0x40000000 is 2^30, 0x800000 is 2^23, 0x1fffff is 2^21 - 1. - var random53bitInt = (Math.random() * pow2_53) & 0x1fffff - ? function () { return mathfloor(Math.random() * pow2_53); } - : function () { return ((Math.random() * 0x40000000 | 0) * 0x800000) + - (Math.random() * 0x800000 | 0); }; - - return function (dp) { - var a, b, e, k, v, - i = 0, - c = [], - rand = new BigNumber(ONE); - - if (dp == null) dp = DECIMAL_PLACES; - else intCheck(dp, 0, MAX); - - k = mathceil(dp / LOG_BASE); - - if (CRYPTO) { - - // Browsers supporting crypto.getRandomValues. - if (crypto.getRandomValues) { - - a = crypto.getRandomValues(new Uint32Array(k *= 2)); - - for (; i < k;) { - - // 53 bits: - // ((Math.pow(2, 32) - 1) * Math.pow(2, 21)).toString(2) - // 11111 11111111 11111111 11111111 11100000 00000000 00000000 - // ((Math.pow(2, 32) - 1) >>> 11).toString(2) - // 11111 11111111 11111111 - // 0x20000 is 2^21. - v = a[i] * 0x20000 + (a[i + 1] >>> 11); - - // Rejection sampling: - // 0 <= v < 9007199254740992 - // Probability that v >= 9e15, is - // 7199254740992 / 9007199254740992 ~= 0.0008, i.e. 1 in 1251 - if (v >= 9e15) { - b = crypto.getRandomValues(new Uint32Array(2)); - a[i] = b[0]; - a[i + 1] = b[1]; - } else { - - // 0 <= v <= 8999999999999999 - // 0 <= (v % 1e14) <= 99999999999999 - c.push(v % 1e14); - i += 2; - } - } - i = k / 2; - - // Node.js supporting crypto.randomBytes. - } else if (crypto.randomBytes) { - - // buffer - a = crypto.randomBytes(k *= 7); - - for (; i < k;) { - - // 0x1000000000000 is 2^48, 0x10000000000 is 2^40 - // 0x100000000 is 2^32, 0x1000000 is 2^24 - // 11111 11111111 11111111 11111111 11111111 11111111 11111111 - // 0 <= v < 9007199254740992 - v = ((a[i] & 31) * 0x1000000000000) + (a[i + 1] * 0x10000000000) + - (a[i + 2] * 0x100000000) + (a[i + 3] * 0x1000000) + - (a[i + 4] << 16) + (a[i + 5] << 8) + a[i + 6]; - - if (v >= 9e15) { - crypto.randomBytes(7).copy(a, i); - } else { - - // 0 <= (v % 1e14) <= 99999999999999 - c.push(v % 1e14); - i += 7; - } - } - i = k / 7; - } else { - CRYPTO = false; - throw Error - (bignumberError + 'crypto unavailable'); - } - } - - // Use Math.random. - if (!CRYPTO) { - - for (; i < k;) { - v = random53bitInt(); - if (v < 9e15) c[i++] = v % 1e14; - } - } - - k = c[--i]; - dp %= LOG_BASE; - - // Convert trailing digits to zeros according to dp. - if (k && dp) { - v = POWS_TEN[LOG_BASE - dp]; - c[i] = mathfloor(k / v) * v; - } - - // Remove trailing elements which are zero. - for (; c[i] === 0; c.pop(), i--); - - // Zero? - if (i < 0) { - c = [e = 0]; - } else { - - // Remove leading elements which are zero and adjust exponent accordingly. - for (e = -1 ; c[0] === 0; c.splice(0, 1), e -= LOG_BASE); - - // Count the digits of the first element of c to determine leading zeros, and... - for (i = 1, v = c[0]; v >= 10; v /= 10, i++); - - // adjust the exponent accordingly. - if (i < LOG_BASE) e -= LOG_BASE - i; - } - - rand.e = e; - rand.c = c; - return rand; - }; - })(); - - - /* - * Return a BigNumber whose value is the sum of the arguments. - * - * arguments {number|string|BigNumber} - */ - BigNumber.sum = function () { - var i = 1, - args = arguments, - sum = new BigNumber(args[0]); - for (; i < args.length;) sum = sum.plus(args[i++]); - return sum; - }; - - - // PRIVATE FUNCTIONS - - - // Called by BigNumber and BigNumber.prototype.toString. - convertBase = (function () { - var decimal = '0123456789'; - - /* - * Convert string of baseIn to an array of numbers of baseOut. - * Eg. toBaseOut('255', 10, 16) returns [15, 15]. - * Eg. toBaseOut('ff', 16, 10) returns [2, 5, 5]. - */ - function toBaseOut(str, baseIn, baseOut, alphabet) { - var j, - arr = [0], - arrL, - i = 0, - len = str.length; - - for (; i < len;) { - for (arrL = arr.length; arrL--; arr[arrL] *= baseIn); - - arr[0] += alphabet.indexOf(str.charAt(i++)); - - for (j = 0; j < arr.length; j++) { - - if (arr[j] > baseOut - 1) { - if (arr[j + 1] == null) arr[j + 1] = 0; - arr[j + 1] += arr[j] / baseOut | 0; - arr[j] %= baseOut; - } - } - } - - return arr.reverse(); - } - - // Convert a numeric string of baseIn to a numeric string of baseOut. - // If the caller is toString, we are converting from base 10 to baseOut. - // If the caller is BigNumber, we are converting from baseIn to base 10. - return function (str, baseIn, baseOut, sign, callerIsToString) { - var alphabet, d, e, k, r, x, xc, y, - i = str.indexOf('.'), - dp = DECIMAL_PLACES, - rm = ROUNDING_MODE; - - // Non-integer. - if (i >= 0) { - k = POW_PRECISION; - - // Unlimited precision. - POW_PRECISION = 0; - str = str.replace('.', ''); - y = new BigNumber(baseIn); - x = y.pow(str.length - i); - POW_PRECISION = k; - - // Convert str as if an integer, then restore the fraction part by dividing the - // result by its base raised to a power. - - y.c = toBaseOut(toFixedPoint(coeffToString(x.c), x.e, '0'), - 10, baseOut, decimal); - y.e = y.c.length; - } - - // Convert the number as integer. - - xc = toBaseOut(str, baseIn, baseOut, callerIsToString - ? (alphabet = ALPHABET, decimal) - : (alphabet = decimal, ALPHABET)); - - // xc now represents str as an integer and converted to baseOut. e is the exponent. - e = k = xc.length; - - // Remove trailing zeros. - for (; xc[--k] == 0; xc.pop()); - - // Zero? - if (!xc[0]) return alphabet.charAt(0); - - // Does str represent an integer? If so, no need for the division. - if (i < 0) { - --e; - } else { - x.c = xc; - x.e = e; - - // The sign is needed for correct rounding. - x.s = sign; - x = div(x, y, dp, rm, baseOut); - xc = x.c; - r = x.r; - e = x.e; - } - - // xc now represents str converted to baseOut. - - // THe index of the rounding digit. - d = e + dp + 1; - - // The rounding digit: the digit to the right of the digit that may be rounded up. - i = xc[d]; - - // Look at the rounding digits and mode to determine whether to round up. - - k = baseOut / 2; - r = r || d < 0 || xc[d + 1] != null; - - r = rm < 4 ? (i != null || r) && (rm == 0 || rm == (x.s < 0 ? 3 : 2)) - : i > k || i == k &&(rm == 4 || r || rm == 6 && xc[d - 1] & 1 || - rm == (x.s < 0 ? 8 : 7)); - - // If the index of the rounding digit is not greater than zero, or xc represents - // zero, then the result of the base conversion is zero or, if rounding up, a value - // such as 0.00001. - if (d < 1 || !xc[0]) { - - // 1^-dp or 0 - str = r ? toFixedPoint(alphabet.charAt(1), -dp, alphabet.charAt(0)) : alphabet.charAt(0); - } else { - - // Truncate xc to the required number of decimal places. - xc.length = d; - - // Round up? - if (r) { - - // Rounding up may mean the previous digit has to be rounded up and so on. - for (--baseOut; ++xc[--d] > baseOut;) { - xc[d] = 0; - - if (!d) { - ++e; - xc = [1].concat(xc); - } - } - } - - // Determine trailing zeros. - for (k = xc.length; !xc[--k];); - - // E.g. [4, 11, 15] becomes 4bf. - for (i = 0, str = ''; i <= k; str += alphabet.charAt(xc[i++])); - - // Add leading zeros, decimal point and trailing zeros as required. - str = toFixedPoint(str, e, alphabet.charAt(0)); - } - - // The caller will add the sign. - return str; - }; - })(); - - - // Perform division in the specified base. Called by div and convertBase. - div = (function () { - - // Assume non-zero x and k. - function multiply(x, k, base) { - var m, temp, xlo, xhi, - carry = 0, - i = x.length, - klo = k % SQRT_BASE, - khi = k / SQRT_BASE | 0; - - for (x = x.slice(); i--;) { - xlo = x[i] % SQRT_BASE; - xhi = x[i] / SQRT_BASE | 0; - m = khi * xlo + xhi * klo; - temp = klo * xlo + ((m % SQRT_BASE) * SQRT_BASE) + carry; - carry = (temp / base | 0) + (m / SQRT_BASE | 0) + khi * xhi; - x[i] = temp % base; - } - - if (carry) x = [carry].concat(x); - - return x; - } - - function compare(a, b, aL, bL) { - var i, cmp; - - if (aL != bL) { - cmp = aL > bL ? 1 : -1; - } else { - - for (i = cmp = 0; i < aL; i++) { - - if (a[i] != b[i]) { - cmp = a[i] > b[i] ? 1 : -1; - break; - } - } - } - - return cmp; - } - - function subtract(a, b, aL, base) { - var i = 0; - - // Subtract b from a. - for (; aL--;) { - a[aL] -= i; - i = a[aL] < b[aL] ? 1 : 0; - a[aL] = i * base + a[aL] - b[aL]; - } - - // Remove leading zeros. - for (; !a[0] && a.length > 1; a.splice(0, 1)); - } - - // x: dividend, y: divisor. - return function (x, y, dp, rm, base) { - var cmp, e, i, more, n, prod, prodL, q, qc, rem, remL, rem0, xi, xL, yc0, - yL, yz, - s = x.s == y.s ? 1 : -1, - xc = x.c, - yc = y.c; - - // Either NaN, Infinity or 0? - if (!xc || !xc[0] || !yc || !yc[0]) { - - return new BigNumber( - - // Return NaN if either NaN, or both Infinity or 0. - !x.s || !y.s || (xc ? yc && xc[0] == yc[0] : !yc) ? NaN : - - // Return ±0 if x is ±0 or y is ±Infinity, or return ±Infinity as y is ±0. - xc && xc[0] == 0 || !yc ? s * 0 : s / 0 - ); - } - - q = new BigNumber(s); - qc = q.c = []; - e = x.e - y.e; - s = dp + e + 1; - - if (!base) { - base = BASE; - e = bitFloor(x.e / LOG_BASE) - bitFloor(y.e / LOG_BASE); - s = s / LOG_BASE | 0; - } - - // Result exponent may be one less then the current value of e. - // The coefficients of the BigNumbers from convertBase may have trailing zeros. - for (i = 0; yc[i] == (xc[i] || 0); i++); - - if (yc[i] > (xc[i] || 0)) e--; - - if (s < 0) { - qc.push(1); - more = true; - } else { - xL = xc.length; - yL = yc.length; - i = 0; - s += 2; - - // Normalise xc and yc so highest order digit of yc is >= base / 2. - - n = mathfloor(base / (yc[0] + 1)); - - // Not necessary, but to handle odd bases where yc[0] == (base / 2) - 1. - // if (n > 1 || n++ == 1 && yc[0] < base / 2) { - if (n > 1) { - yc = multiply(yc, n, base); - xc = multiply(xc, n, base); - yL = yc.length; - xL = xc.length; - } - - xi = yL; - rem = xc.slice(0, yL); - remL = rem.length; - - // Add zeros to make remainder as long as divisor. - for (; remL < yL; rem[remL++] = 0); - yz = yc.slice(); - yz = [0].concat(yz); - yc0 = yc[0]; - if (yc[1] >= base / 2) yc0++; - // Not necessary, but to prevent trial digit n > base, when using base 3. - // else if (base == 3 && yc0 == 1) yc0 = 1 + 1e-15; - - do { - n = 0; - - // Compare divisor and remainder. - cmp = compare(yc, rem, yL, remL); - - // If divisor < remainder. - if (cmp < 0) { - - // Calculate trial digit, n. - - rem0 = rem[0]; - if (yL != remL) rem0 = rem0 * base + (rem[1] || 0); - - // n is how many times the divisor goes into the current remainder. - n = mathfloor(rem0 / yc0); - - // Algorithm: - // product = divisor multiplied by trial digit (n). - // Compare product and remainder. - // If product is greater than remainder: - // Subtract divisor from product, decrement trial digit. - // Subtract product from remainder. - // If product was less than remainder at the last compare: - // Compare new remainder and divisor. - // If remainder is greater than divisor: - // Subtract divisor from remainder, increment trial digit. - - if (n > 1) { - - // n may be > base only when base is 3. - if (n >= base) n = base - 1; - - // product = divisor * trial digit. - prod = multiply(yc, n, base); - prodL = prod.length; - remL = rem.length; - - // Compare product and remainder. - // If product > remainder then trial digit n too high. - // n is 1 too high about 5% of the time, and is not known to have - // ever been more than 1 too high. - while (compare(prod, rem, prodL, remL) == 1) { - n--; - - // Subtract divisor from product. - subtract(prod, yL < prodL ? yz : yc, prodL, base); - prodL = prod.length; - cmp = 1; - } - } else { - - // n is 0 or 1, cmp is -1. - // If n is 0, there is no need to compare yc and rem again below, - // so change cmp to 1 to avoid it. - // If n is 1, leave cmp as -1, so yc and rem are compared again. - if (n == 0) { - - // divisor < remainder, so n must be at least 1. - cmp = n = 1; - } - - // product = divisor - prod = yc.slice(); - prodL = prod.length; - } - - if (prodL < remL) prod = [0].concat(prod); - - // Subtract product from remainder. - subtract(rem, prod, remL, base); - remL = rem.length; - - // If product was < remainder. - if (cmp == -1) { - - // Compare divisor and new remainder. - // If divisor < new remainder, subtract divisor from remainder. - // Trial digit n too low. - // n is 1 too low about 5% of the time, and very rarely 2 too low. - while (compare(yc, rem, yL, remL) < 1) { - n++; - - // Subtract divisor from remainder. - subtract(rem, yL < remL ? yz : yc, remL, base); - remL = rem.length; - } - } - } else if (cmp === 0) { - n++; - rem = [0]; - } // else cmp === 1 and n will be 0 - - // Add the next digit, n, to the result array. - qc[i++] = n; - - // Update the remainder. - if (rem[0]) { - rem[remL++] = xc[xi] || 0; - } else { - rem = [xc[xi]]; - remL = 1; - } - } while ((xi++ < xL || rem[0] != null) && s--); - - more = rem[0] != null; - - // Leading zero? - if (!qc[0]) qc.splice(0, 1); - } - - if (base == BASE) { - - // To calculate q.e, first get the number of digits of qc[0]. - for (i = 1, s = qc[0]; s >= 10; s /= 10, i++); - - round(q, dp + (q.e = i + e * LOG_BASE - 1) + 1, rm, more); - - // Caller is convertBase. - } else { - q.e = e; - q.r = +more; - } - - return q; - }; - })(); - - - /* - * Return a string representing the value of BigNumber n in fixed-point or exponential - * notation rounded to the specified decimal places or significant digits. - * - * n: a BigNumber. - * i: the index of the last digit required (i.e. the digit that may be rounded up). - * rm: the rounding mode. - * id: 1 (toExponential) or 2 (toPrecision). - */ - function format(n, i, rm, id) { - var c0, e, ne, len, str; - - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - - if (!n.c) return n.toString(); - - c0 = n.c[0]; - ne = n.e; - - if (i == null) { - str = coeffToString(n.c); - str = id == 1 || id == 2 && (ne <= TO_EXP_NEG || ne >= TO_EXP_POS) - ? toExponential(str, ne) - : toFixedPoint(str, ne, '0'); - } else { - n = round(new BigNumber(n), i, rm); - - // n.e may have changed if the value was rounded up. - e = n.e; - - str = coeffToString(n.c); - len = str.length; - - // toPrecision returns exponential notation if the number of significant digits - // specified is less than the number of digits necessary to represent the integer - // part of the value in fixed-point notation. - - // Exponential notation. - if (id == 1 || id == 2 && (i <= e || e <= TO_EXP_NEG)) { - - // Append zeros? - for (; len < i; str += '0', len++); - str = toExponential(str, e); - - // Fixed-point notation. - } else { - i -= ne; - str = toFixedPoint(str, e, '0'); - - // Append zeros? - if (e + 1 > len) { - if (--i > 0) for (str += '.'; i--; str += '0'); - } else { - i += e - len; - if (i > 0) { - if (e + 1 == len) str += '.'; - for (; i--; str += '0'); - } - } - } - } - - return n.s < 0 && c0 ? '-' + str : str; - } - - - // Handle BigNumber.max and BigNumber.min. - function maxOrMin(args, method) { - var n, - i = 1, - m = new BigNumber(args[0]); - - for (; i < args.length; i++) { - n = new BigNumber(args[i]); - - // If any number is NaN, return NaN. - if (!n.s) { - m = n; - break; - } else if (method.call(m, n)) { - m = n; - } - } - - return m; - } - - - /* - * Strip trailing zeros, calculate base 10 exponent and check against MIN_EXP and MAX_EXP. - * Called by minus, plus and times. - */ - function normalise(n, c, e) { - var i = 1, - j = c.length; - - // Remove trailing zeros. - for (; !c[--j]; c.pop()); - - // Calculate the base 10 exponent. First get the number of digits of c[0]. - for (j = c[0]; j >= 10; j /= 10, i++); - - // Overflow? - if ((e = i + e * LOG_BASE - 1) > MAX_EXP) { - - // Infinity. - n.c = n.e = null; - - // Underflow? - } else if (e < MIN_EXP) { - - // Zero. - n.c = [n.e = 0]; - } else { - n.e = e; - n.c = c; - } - - return n; - } - - - // Handle values that fail the validity test in BigNumber. - parseNumeric = (function () { - var basePrefix = /^(-?)0([xbo])(?=\w[\w.]*$)/i, - dotAfter = /^([^.]+)\.$/, - dotBefore = /^\.([^.]+)$/, - isInfinityOrNaN = /^-?(Infinity|NaN)$/, - whitespaceOrPlus = /^\s*\+(?=[\w.])|^\s+|\s+$/g; - - return function (x, str, isNum, b) { - var base, - s = isNum ? str : str.replace(whitespaceOrPlus, ''); - - // No exception on ±Infinity or NaN. - if (isInfinityOrNaN.test(s)) { - x.s = isNaN(s) ? null : s < 0 ? -1 : 1; - } else { - if (!isNum) { - - // basePrefix = /^(-?)0([xbo])(?=\w[\w.]*$)/i - s = s.replace(basePrefix, function (m, p1, p2) { - base = (p2 = p2.toLowerCase()) == 'x' ? 16 : p2 == 'b' ? 2 : 8; - return !b || b == base ? p1 : m; - }); - - if (b) { - base = b; - - // E.g. '1.' to '1', '.1' to '0.1' - s = s.replace(dotAfter, '$1').replace(dotBefore, '0.$1'); - } - - if (str != s) return new BigNumber(s, base); - } - - // '[BigNumber Error] Not a number: {n}' - // '[BigNumber Error] Not a base {b} number: {n}' - if (BigNumber.DEBUG) { - throw Error - (bignumberError + 'Not a' + (b ? ' base ' + b : '') + ' number: ' + str); - } - - // NaN - x.s = null; - } - - x.c = x.e = null; - } - })(); - - - /* - * Round x to sd significant digits using rounding mode rm. Check for over/under-flow. - * If r is truthy, it is known that there are more digits after the rounding digit. - */ - function round(x, sd, rm, r) { - var d, i, j, k, n, ni, rd, - xc = x.c, - pows10 = POWS_TEN; - - // if x is not Infinity or NaN... - if (xc) { - - // rd is the rounding digit, i.e. the digit after the digit that may be rounded up. - // n is a base 1e14 number, the value of the element of array x.c containing rd. - // ni is the index of n within x.c. - // d is the number of digits of n. - // i is the index of rd within n including leading zeros. - // j is the actual index of rd within n (if < 0, rd is a leading zero). - out: { - - // Get the number of digits of the first element of xc. - for (d = 1, k = xc[0]; k >= 10; k /= 10, d++); - i = sd - d; - - // If the rounding digit is in the first element of xc... - if (i < 0) { - i += LOG_BASE; - j = sd; - n = xc[ni = 0]; - - // Get the rounding digit at index j of n. - rd = n / pows10[d - j - 1] % 10 | 0; - } else { - ni = mathceil((i + 1) / LOG_BASE); - - if (ni >= xc.length) { - - if (r) { - - // Needed by sqrt. - for (; xc.length <= ni; xc.push(0)); - n = rd = 0; - d = 1; - i %= LOG_BASE; - j = i - LOG_BASE + 1; - } else { - break out; - } - } else { - n = k = xc[ni]; - - // Get the number of digits of n. - for (d = 1; k >= 10; k /= 10, d++); - - // Get the index of rd within n. - i %= LOG_BASE; - - // Get the index of rd within n, adjusted for leading zeros. - // The number of leading zeros of n is given by LOG_BASE - d. - j = i - LOG_BASE + d; - - // Get the rounding digit at index j of n. - rd = j < 0 ? 0 : n / pows10[d - j - 1] % 10 | 0; - } - } - - r = r || sd < 0 || - - // Are there any non-zero digits after the rounding digit? - // The expression n % pows10[d - j - 1] returns all digits of n to the right - // of the digit at j, e.g. if n is 908714 and j is 2, the expression gives 714. - xc[ni + 1] != null || (j < 0 ? n : n % pows10[d - j - 1]); - - r = rm < 4 - ? (rd || r) && (rm == 0 || rm == (x.s < 0 ? 3 : 2)) - : rd > 5 || rd == 5 && (rm == 4 || r || rm == 6 && - - // Check whether the digit to the left of the rounding digit is odd. - ((i > 0 ? j > 0 ? n / pows10[d - j] : 0 : xc[ni - 1]) % 10) & 1 || - rm == (x.s < 0 ? 8 : 7)); - - if (sd < 1 || !xc[0]) { - xc.length = 0; - - if (r) { - - // Convert sd to decimal places. - sd -= x.e + 1; - - // 1, 0.1, 0.01, 0.001, 0.0001 etc. - xc[0] = pows10[(LOG_BASE - sd % LOG_BASE) % LOG_BASE]; - x.e = -sd || 0; - } else { - - // Zero. - xc[0] = x.e = 0; - } - - return x; - } - - // Remove excess digits. - if (i == 0) { - xc.length = ni; - k = 1; - ni--; - } else { - xc.length = ni + 1; - k = pows10[LOG_BASE - i]; - - // E.g. 56700 becomes 56000 if 7 is the rounding digit. - // j > 0 means i > number of leading zeros of n. - xc[ni] = j > 0 ? mathfloor(n / pows10[d - j] % pows10[j]) * k : 0; - } - - // Round up? - if (r) { - - for (; ;) { - - // If the digit to be rounded up is in the first element of xc... - if (ni == 0) { - - // i will be the length of xc[0] before k is added. - for (i = 1, j = xc[0]; j >= 10; j /= 10, i++); - j = xc[0] += k; - for (k = 1; j >= 10; j /= 10, k++); - - // if i != k the length has increased. - if (i != k) { - x.e++; - if (xc[0] == BASE) xc[0] = 1; - } - - break; - } else { - xc[ni] += k; - if (xc[ni] != BASE) break; - xc[ni--] = 0; - k = 1; - } - } - } - - // Remove trailing zeros. - for (i = xc.length; xc[--i] === 0; xc.pop()); - } - - // Overflow? Infinity. - if (x.e > MAX_EXP) { - x.c = x.e = null; - - // Underflow? Zero. - } else if (x.e < MIN_EXP) { - x.c = [x.e = 0]; - } - } - - return x; - } - - - function valueOf(n) { - var str, - e = n.e; - - if (e === null) return n.toString(); - - str = coeffToString(n.c); - - str = e <= TO_EXP_NEG || e >= TO_EXP_POS - ? toExponential(str, e) - : toFixedPoint(str, e, '0'); - - return n.s < 0 ? '-' + str : str; - } - - - // PROTOTYPE/INSTANCE METHODS - - - /* - * Return a new BigNumber whose value is the absolute value of this BigNumber. - */ - P.absoluteValue = P.abs = function () { - var x = new BigNumber(this); - if (x.s < 0) x.s = 1; - return x; - }; - - - /* - * Return - * 1 if the value of this BigNumber is greater than the value of BigNumber(y, b), - * -1 if the value of this BigNumber is less than the value of BigNumber(y, b), - * 0 if they have the same value, - * or null if the value of either is NaN. - */ - P.comparedTo = function (y, b) { - return compare(this, new BigNumber(y, b)); - }; - - - /* - * If dp is undefined or null or true or false, return the number of decimal places of the - * value of this BigNumber, or null if the value of this BigNumber is ±Infinity or NaN. - * - * Otherwise, if dp is a number, return a new BigNumber whose value is the value of this - * BigNumber rounded to a maximum of dp decimal places using rounding mode rm, or - * ROUNDING_MODE if rm is omitted. - * - * [dp] {number} Decimal places: integer, 0 to MAX inclusive. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp|rm}' - */ - P.decimalPlaces = P.dp = function (dp, rm) { - var c, n, v, - x = this; - - if (dp != null) { - intCheck(dp, 0, MAX); - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - - return round(new BigNumber(x), dp + x.e + 1, rm); - } - - if (!(c = x.c)) return null; - n = ((v = c.length - 1) - bitFloor(this.e / LOG_BASE)) * LOG_BASE; - - // Subtract the number of trailing zeros of the last number. - if (v = c[v]) for (; v % 10 == 0; v /= 10, n--); - if (n < 0) n = 0; - - return n; - }; - - - /* - * n / 0 = I - * n / N = N - * n / I = 0 - * 0 / n = 0 - * 0 / 0 = N - * 0 / N = N - * 0 / I = 0 - * N / n = N - * N / 0 = N - * N / N = N - * N / I = N - * I / n = I - * I / 0 = I - * I / N = N - * I / I = N - * - * Return a new BigNumber whose value is the value of this BigNumber divided by the value of - * BigNumber(y, b), rounded according to DECIMAL_PLACES and ROUNDING_MODE. - */ - P.dividedBy = P.div = function (y, b) { - return div(this, new BigNumber(y, b), DECIMAL_PLACES, ROUNDING_MODE); - }; - - - /* - * Return a new BigNumber whose value is the integer part of dividing the value of this - * BigNumber by the value of BigNumber(y, b). - */ - P.dividedToIntegerBy = P.idiv = function (y, b) { - return div(this, new BigNumber(y, b), 0, 1); - }; - - - /* - * Return a BigNumber whose value is the value of this BigNumber exponentiated by n. - * - * If m is present, return the result modulo m. - * If n is negative round according to DECIMAL_PLACES and ROUNDING_MODE. - * If POW_PRECISION is non-zero and m is not present, round to POW_PRECISION using ROUNDING_MODE. - * - * The modular power operation works efficiently when x, n, and m are integers, otherwise it - * is equivalent to calculating x.exponentiatedBy(n).modulo(m) with a POW_PRECISION of 0. - * - * n {number|string|BigNumber} The exponent. An integer. - * [m] {number|string|BigNumber} The modulus. - * - * '[BigNumber Error] Exponent not an integer: {n}' - */ - P.exponentiatedBy = P.pow = function (n, m) { - var half, isModExp, i, k, more, nIsBig, nIsNeg, nIsOdd, y, - x = this; - - n = new BigNumber(n); - - // Allow NaN and ±Infinity, but not other non-integers. - if (n.c && !n.isInteger()) { - throw Error - (bignumberError + 'Exponent not an integer: ' + valueOf(n)); - } - - if (m != null) m = new BigNumber(m); - - // Exponent of MAX_SAFE_INTEGER is 15. - nIsBig = n.e > 14; - - // If x is NaN, ±Infinity, ±0 or ±1, or n is ±Infinity, NaN or ±0. - if (!x.c || !x.c[0] || x.c[0] == 1 && !x.e && x.c.length == 1 || !n.c || !n.c[0]) { - - // The sign of the result of pow when x is negative depends on the evenness of n. - // If +n overflows to ±Infinity, the evenness of n would be not be known. - y = new BigNumber(Math.pow(+valueOf(x), nIsBig ? 2 - isOdd(n) : +valueOf(n))); - return m ? y.mod(m) : y; - } - - nIsNeg = n.s < 0; - - if (m) { - - // x % m returns NaN if abs(m) is zero, or m is NaN. - if (m.c ? !m.c[0] : !m.s) return new BigNumber(NaN); - - isModExp = !nIsNeg && x.isInteger() && m.isInteger(); - - if (isModExp) x = x.mod(m); - - // Overflow to ±Infinity: >=2**1e10 or >=1.0000024**1e15. - // Underflow to ±0: <=0.79**1e10 or <=0.9999975**1e15. - } else if (n.e > 9 && (x.e > 0 || x.e < -1 || (x.e == 0 - // [1, 240000000] - ? x.c[0] > 1 || nIsBig && x.c[1] >= 24e7 - // [80000000000000] [99999750000000] - : x.c[0] < 8e13 || nIsBig && x.c[0] <= 9999975e7))) { - - // If x is negative and n is odd, k = -0, else k = 0. - k = x.s < 0 && isOdd(n) ? -0 : 0; - - // If x >= 1, k = ±Infinity. - if (x.e > -1) k = 1 / k; - - // If n is negative return ±0, else return ±Infinity. - return new BigNumber(nIsNeg ? 1 / k : k); - - } else if (POW_PRECISION) { - - // Truncating each coefficient array to a length of k after each multiplication - // equates to truncating significant digits to POW_PRECISION + [28, 41], - // i.e. there will be a minimum of 28 guard digits retained. - k = mathceil(POW_PRECISION / LOG_BASE + 2); - } - - if (nIsBig) { - half = new BigNumber(0.5); - if (nIsNeg) n.s = 1; - nIsOdd = isOdd(n); - } else { - i = Math.abs(+valueOf(n)); - nIsOdd = i % 2; - } - - y = new BigNumber(ONE); - - // Performs 54 loop iterations for n of 9007199254740991. - for (; ;) { - - if (nIsOdd) { - y = y.times(x); - if (!y.c) break; - - if (k) { - if (y.c.length > k) y.c.length = k; - } else if (isModExp) { - y = y.mod(m); //y = y.minus(div(y, m, 0, MODULO_MODE).times(m)); - } - } - - if (i) { - i = mathfloor(i / 2); - if (i === 0) break; - nIsOdd = i % 2; - } else { - n = n.times(half); - round(n, n.e + 1, 1); - - if (n.e > 14) { - nIsOdd = isOdd(n); - } else { - i = +valueOf(n); - if (i === 0) break; - nIsOdd = i % 2; - } - } - - x = x.times(x); - - if (k) { - if (x.c && x.c.length > k) x.c.length = k; - } else if (isModExp) { - x = x.mod(m); //x = x.minus(div(x, m, 0, MODULO_MODE).times(m)); - } - } - - if (isModExp) return y; - if (nIsNeg) y = ONE.div(y); - - return m ? y.mod(m) : k ? round(y, POW_PRECISION, ROUNDING_MODE, more) : y; - }; - - - /* - * Return a new BigNumber whose value is the value of this BigNumber rounded to an integer - * using rounding mode rm, or ROUNDING_MODE if rm is omitted. - * - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {rm}' - */ - P.integerValue = function (rm) { - var n = new BigNumber(this); - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - return round(n, n.e + 1, rm); - }; - - - /* - * Return true if the value of this BigNumber is equal to the value of BigNumber(y, b), - * otherwise return false. - */ - P.isEqualTo = P.eq = function (y, b) { - return compare(this, new BigNumber(y, b)) === 0; - }; - - - /* - * Return true if the value of this BigNumber is a finite number, otherwise return false. - */ - P.isFinite = function () { - return !!this.c; - }; - - - /* - * Return true if the value of this BigNumber is greater than the value of BigNumber(y, b), - * otherwise return false. - */ - P.isGreaterThan = P.gt = function (y, b) { - return compare(this, new BigNumber(y, b)) > 0; - }; - - - /* - * Return true if the value of this BigNumber is greater than or equal to the value of - * BigNumber(y, b), otherwise return false. - */ - P.isGreaterThanOrEqualTo = P.gte = function (y, b) { - return (b = compare(this, new BigNumber(y, b))) === 1 || b === 0; - - }; - - - /* - * Return true if the value of this BigNumber is an integer, otherwise return false. - */ - P.isInteger = function () { - return !!this.c && bitFloor(this.e / LOG_BASE) > this.c.length - 2; - }; - - - /* - * Return true if the value of this BigNumber is less than the value of BigNumber(y, b), - * otherwise return false. - */ - P.isLessThan = P.lt = function (y, b) { - return compare(this, new BigNumber(y, b)) < 0; - }; - - - /* - * Return true if the value of this BigNumber is less than or equal to the value of - * BigNumber(y, b), otherwise return false. - */ - P.isLessThanOrEqualTo = P.lte = function (y, b) { - return (b = compare(this, new BigNumber(y, b))) === -1 || b === 0; - }; - - - /* - * Return true if the value of this BigNumber is NaN, otherwise return false. - */ - P.isNaN = function () { - return !this.s; - }; - - - /* - * Return true if the value of this BigNumber is negative, otherwise return false. - */ - P.isNegative = function () { - return this.s < 0; - }; - - - /* - * Return true if the value of this BigNumber is positive, otherwise return false. - */ - P.isPositive = function () { - return this.s > 0; - }; - - - /* - * Return true if the value of this BigNumber is 0 or -0, otherwise return false. - */ - P.isZero = function () { - return !!this.c && this.c[0] == 0; - }; - - - /* - * n - 0 = n - * n - N = N - * n - I = -I - * 0 - n = -n - * 0 - 0 = 0 - * 0 - N = N - * 0 - I = -I - * N - n = N - * N - 0 = N - * N - N = N - * N - I = N - * I - n = I - * I - 0 = I - * I - N = N - * I - I = N - * - * Return a new BigNumber whose value is the value of this BigNumber minus the value of - * BigNumber(y, b). - */ - P.minus = function (y, b) { - var i, j, t, xLTy, - x = this, - a = x.s; - - y = new BigNumber(y, b); - b = y.s; - - // Either NaN? - if (!a || !b) return new BigNumber(NaN); - - // Signs differ? - if (a != b) { - y.s = -b; - return x.plus(y); - } - - var xe = x.e / LOG_BASE, - ye = y.e / LOG_BASE, - xc = x.c, - yc = y.c; - - if (!xe || !ye) { - - // Either Infinity? - if (!xc || !yc) return xc ? (y.s = -b, y) : new BigNumber(yc ? x : NaN); - - // Either zero? - if (!xc[0] || !yc[0]) { - - // Return y if y is non-zero, x if x is non-zero, or zero if both are zero. - return yc[0] ? (y.s = -b, y) : new BigNumber(xc[0] ? x : - - // IEEE 754 (2008) 6.3: n - n = -0 when rounding to -Infinity - ROUNDING_MODE == 3 ? -0 : 0); - } - } - - xe = bitFloor(xe); - ye = bitFloor(ye); - xc = xc.slice(); - - // Determine which is the bigger number. - if (a = xe - ye) { - - if (xLTy = a < 0) { - a = -a; - t = xc; - } else { - ye = xe; - t = yc; - } - - t.reverse(); - - // Prepend zeros to equalise exponents. - for (b = a; b--; t.push(0)); - t.reverse(); - } else { - - // Exponents equal. Check digit by digit. - j = (xLTy = (a = xc.length) < (b = yc.length)) ? a : b; - - for (a = b = 0; b < j; b++) { - - if (xc[b] != yc[b]) { - xLTy = xc[b] < yc[b]; - break; - } - } - } - - // x < y? Point xc to the array of the bigger number. - if (xLTy) t = xc, xc = yc, yc = t, y.s = -y.s; - - b = (j = yc.length) - (i = xc.length); - - // Append zeros to xc if shorter. - // No need to add zeros to yc if shorter as subtract only needs to start at yc.length. - if (b > 0) for (; b--; xc[i++] = 0); - b = BASE - 1; - - // Subtract yc from xc. - for (; j > a;) { - - if (xc[--j] < yc[j]) { - for (i = j; i && !xc[--i]; xc[i] = b); - --xc[i]; - xc[j] += BASE; - } - - xc[j] -= yc[j]; - } - - // Remove leading zeros and adjust exponent accordingly. - for (; xc[0] == 0; xc.splice(0, 1), --ye); - - // Zero? - if (!xc[0]) { - - // Following IEEE 754 (2008) 6.3, - // n - n = +0 but n - n = -0 when rounding towards -Infinity. - y.s = ROUNDING_MODE == 3 ? -1 : 1; - y.c = [y.e = 0]; - return y; - } - - // No need to check for Infinity as +x - +y != Infinity && -x - -y != Infinity - // for finite x and y. - return normalise(y, xc, ye); - }; - - - /* - * n % 0 = N - * n % N = N - * n % I = n - * 0 % n = 0 - * -0 % n = -0 - * 0 % 0 = N - * 0 % N = N - * 0 % I = 0 - * N % n = N - * N % 0 = N - * N % N = N - * N % I = N - * I % n = N - * I % 0 = N - * I % N = N - * I % I = N - * - * Return a new BigNumber whose value is the value of this BigNumber modulo the value of - * BigNumber(y, b). The result depends on the value of MODULO_MODE. - */ - P.modulo = P.mod = function (y, b) { - var q, s, - x = this; - - y = new BigNumber(y, b); - - // Return NaN if x is Infinity or NaN, or y is NaN or zero. - if (!x.c || !y.s || y.c && !y.c[0]) { - return new BigNumber(NaN); - - // Return x if y is Infinity or x is zero. - } else if (!y.c || x.c && !x.c[0]) { - return new BigNumber(x); - } - - if (MODULO_MODE == 9) { - - // Euclidian division: q = sign(y) * floor(x / abs(y)) - // r = x - qy where 0 <= r < abs(y) - s = y.s; - y.s = 1; - q = div(x, y, 0, 3); - y.s = s; - q.s *= s; - } else { - q = div(x, y, 0, MODULO_MODE); - } - - y = x.minus(q.times(y)); - - // To match JavaScript %, ensure sign of zero is sign of dividend. - if (!y.c[0] && MODULO_MODE == 1) y.s = x.s; - - return y; - }; - - - /* - * n * 0 = 0 - * n * N = N - * n * I = I - * 0 * n = 0 - * 0 * 0 = 0 - * 0 * N = N - * 0 * I = N - * N * n = N - * N * 0 = N - * N * N = N - * N * I = N - * I * n = I - * I * 0 = N - * I * N = N - * I * I = I - * - * Return a new BigNumber whose value is the value of this BigNumber multiplied by the value - * of BigNumber(y, b). - */ - P.multipliedBy = P.times = function (y, b) { - var c, e, i, j, k, m, xcL, xlo, xhi, ycL, ylo, yhi, zc, - base, sqrtBase, - x = this, - xc = x.c, - yc = (y = new BigNumber(y, b)).c; - - // Either NaN, ±Infinity or ±0? - if (!xc || !yc || !xc[0] || !yc[0]) { - - // Return NaN if either is NaN, or one is 0 and the other is Infinity. - if (!x.s || !y.s || xc && !xc[0] && !yc || yc && !yc[0] && !xc) { - y.c = y.e = y.s = null; - } else { - y.s *= x.s; - - // Return ±Infinity if either is ±Infinity. - if (!xc || !yc) { - y.c = y.e = null; - - // Return ±0 if either is ±0. - } else { - y.c = [0]; - y.e = 0; - } - } - - return y; - } - - e = bitFloor(x.e / LOG_BASE) + bitFloor(y.e / LOG_BASE); - y.s *= x.s; - xcL = xc.length; - ycL = yc.length; - - // Ensure xc points to longer array and xcL to its length. - if (xcL < ycL) zc = xc, xc = yc, yc = zc, i = xcL, xcL = ycL, ycL = i; - - // Initialise the result array with zeros. - for (i = xcL + ycL, zc = []; i--; zc.push(0)); - - base = BASE; - sqrtBase = SQRT_BASE; - - for (i = ycL; --i >= 0;) { - c = 0; - ylo = yc[i] % sqrtBase; - yhi = yc[i] / sqrtBase | 0; - - for (k = xcL, j = i + k; j > i;) { - xlo = xc[--k] % sqrtBase; - xhi = xc[k] / sqrtBase | 0; - m = yhi * xlo + xhi * ylo; - xlo = ylo * xlo + ((m % sqrtBase) * sqrtBase) + zc[j] + c; - c = (xlo / base | 0) + (m / sqrtBase | 0) + yhi * xhi; - zc[j--] = xlo % base; - } - - zc[j] = c; - } - - if (c) { - ++e; - } else { - zc.splice(0, 1); - } - - return normalise(y, zc, e); - }; - - - /* - * Return a new BigNumber whose value is the value of this BigNumber negated, - * i.e. multiplied by -1. - */ - P.negated = function () { - var x = new BigNumber(this); - x.s = -x.s || null; - return x; - }; - - - /* - * n + 0 = n - * n + N = N - * n + I = I - * 0 + n = n - * 0 + 0 = 0 - * 0 + N = N - * 0 + I = I - * N + n = N - * N + 0 = N - * N + N = N - * N + I = N - * I + n = I - * I + 0 = I - * I + N = N - * I + I = I - * - * Return a new BigNumber whose value is the value of this BigNumber plus the value of - * BigNumber(y, b). - */ - P.plus = function (y, b) { - var t, - x = this, - a = x.s; - - y = new BigNumber(y, b); - b = y.s; - - // Either NaN? - if (!a || !b) return new BigNumber(NaN); - - // Signs differ? - if (a != b) { - y.s = -b; - return x.minus(y); - } - - var xe = x.e / LOG_BASE, - ye = y.e / LOG_BASE, - xc = x.c, - yc = y.c; - - if (!xe || !ye) { - - // Return ±Infinity if either ±Infinity. - if (!xc || !yc) return new BigNumber(a / 0); - - // Either zero? - // Return y if y is non-zero, x if x is non-zero, or zero if both are zero. - if (!xc[0] || !yc[0]) return yc[0] ? y : new BigNumber(xc[0] ? x : a * 0); - } - - xe = bitFloor(xe); - ye = bitFloor(ye); - xc = xc.slice(); - - // Prepend zeros to equalise exponents. Faster to use reverse then do unshifts. - if (a = xe - ye) { - if (a > 0) { - ye = xe; - t = yc; - } else { - a = -a; - t = xc; - } - - t.reverse(); - for (; a--; t.push(0)); - t.reverse(); - } - - a = xc.length; - b = yc.length; - - // Point xc to the longer array, and b to the shorter length. - if (a - b < 0) t = yc, yc = xc, xc = t, b = a; - - // Only start adding at yc.length - 1 as the further digits of xc can be ignored. - for (a = 0; b;) { - a = (xc[--b] = xc[b] + yc[b] + a) / BASE | 0; - xc[b] = BASE === xc[b] ? 0 : xc[b] % BASE; - } - - if (a) { - xc = [a].concat(xc); - ++ye; - } - - // No need to check for zero, as +x + +y != 0 && -x + -y != 0 - // ye = MAX_EXP + 1 possible - return normalise(y, xc, ye); - }; - - - /* - * If sd is undefined or null or true or false, return the number of significant digits of - * the value of this BigNumber, or null if the value of this BigNumber is ±Infinity or NaN. - * If sd is true include integer-part trailing zeros in the count. - * - * Otherwise, if sd is a number, return a new BigNumber whose value is the value of this - * BigNumber rounded to a maximum of sd significant digits using rounding mode rm, or - * ROUNDING_MODE if rm is omitted. - * - * sd {number|boolean} number: significant digits: integer, 1 to MAX inclusive. - * boolean: whether to count integer-part trailing zeros: true or false. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {sd|rm}' - */ - P.precision = P.sd = function (sd, rm) { - var c, n, v, - x = this; - - if (sd != null && sd !== !!sd) { - intCheck(sd, 1, MAX); - if (rm == null) rm = ROUNDING_MODE; - else intCheck(rm, 0, 8); - - return round(new BigNumber(x), sd, rm); - } - - if (!(c = x.c)) return null; - v = c.length - 1; - n = v * LOG_BASE + 1; - - if (v = c[v]) { - - // Subtract the number of trailing zeros of the last element. - for (; v % 10 == 0; v /= 10, n--); - - // Add the number of digits of the first element. - for (v = c[0]; v >= 10; v /= 10, n++); - } - - if (sd && x.e + 1 > n) n = x.e + 1; - - return n; - }; - - - /* - * Return a new BigNumber whose value is the value of this BigNumber shifted by k places - * (powers of 10). Shift to the right if n > 0, and to the left if n < 0. - * - * k {number} Integer, -MAX_SAFE_INTEGER to MAX_SAFE_INTEGER inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {k}' - */ - P.shiftedBy = function (k) { - intCheck(k, -MAX_SAFE_INTEGER, MAX_SAFE_INTEGER); - return this.times('1e' + k); - }; - - - /* - * sqrt(-n) = N - * sqrt(N) = N - * sqrt(-I) = N - * sqrt(I) = I - * sqrt(0) = 0 - * sqrt(-0) = -0 - * - * Return a new BigNumber whose value is the square root of the value of this BigNumber, - * rounded according to DECIMAL_PLACES and ROUNDING_MODE. - */ - P.squareRoot = P.sqrt = function () { - var m, n, r, rep, t, - x = this, - c = x.c, - s = x.s, - e = x.e, - dp = DECIMAL_PLACES + 4, - half = new BigNumber('0.5'); - - // Negative/NaN/Infinity/zero? - if (s !== 1 || !c || !c[0]) { - return new BigNumber(!s || s < 0 && (!c || c[0]) ? NaN : c ? x : 1 / 0); - } - - // Initial estimate. - s = Math.sqrt(+valueOf(x)); - - // Math.sqrt underflow/overflow? - // Pass x to Math.sqrt as integer, then adjust the exponent of the result. - if (s == 0 || s == 1 / 0) { - n = coeffToString(c); - if ((n.length + e) % 2 == 0) n += '0'; - s = Math.sqrt(+n); - e = bitFloor((e + 1) / 2) - (e < 0 || e % 2); - - if (s == 1 / 0) { - n = '1e' + e; - } else { - n = s.toExponential(); - n = n.slice(0, n.indexOf('e') + 1) + e; - } - - r = new BigNumber(n); - } else { - r = new BigNumber(s + ''); - } - - // Check for zero. - // r could be zero if MIN_EXP is changed after the this value was created. - // This would cause a division by zero (x/t) and hence Infinity below, which would cause - // coeffToString to throw. - if (r.c[0]) { - e = r.e; - s = e + dp; - if (s < 3) s = 0; - - // Newton-Raphson iteration. - for (; ;) { - t = r; - r = half.times(t.plus(div(x, t, dp, 1))); - - if (coeffToString(t.c).slice(0, s) === (n = coeffToString(r.c)).slice(0, s)) { - - // The exponent of r may here be one less than the final result exponent, - // e.g 0.0009999 (e-4) --> 0.001 (e-3), so adjust s so the rounding digits - // are indexed correctly. - if (r.e < e) --s; - n = n.slice(s - 3, s + 1); - - // The 4th rounding digit may be in error by -1 so if the 4 rounding digits - // are 9999 or 4999 (i.e. approaching a rounding boundary) continue the - // iteration. - if (n == '9999' || !rep && n == '4999') { - - // On the first iteration only, check to see if rounding up gives the - // exact result as the nines may infinitely repeat. - if (!rep) { - round(t, t.e + DECIMAL_PLACES + 2, 0); - - if (t.times(t).eq(x)) { - r = t; - break; - } - } - - dp += 4; - s += 4; - rep = 1; - } else { - - // If rounding digits are null, 0{0,4} or 50{0,3}, check for exact - // result. If not, then there are further digits and m will be truthy. - if (!+n || !+n.slice(1) && n.charAt(0) == '5') { - - // Truncate to the first rounding digit. - round(r, r.e + DECIMAL_PLACES + 2, 1); - m = !r.times(r).eq(x); - } - - break; - } - } - } - } - - return round(r, r.e + DECIMAL_PLACES + 1, ROUNDING_MODE, m); - }; - - - /* - * Return a string representing the value of this BigNumber in exponential notation and - * rounded using ROUNDING_MODE to dp fixed decimal places. - * - * [dp] {number} Decimal places. Integer, 0 to MAX inclusive. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp|rm}' - */ - P.toExponential = function (dp, rm) { - if (dp != null) { - intCheck(dp, 0, MAX); - dp++; - } - return format(this, dp, rm, 1); - }; - - - /* - * Return a string representing the value of this BigNumber in fixed-point notation rounding - * to dp fixed decimal places using rounding mode rm, or ROUNDING_MODE if rm is omitted. - * - * Note: as with JavaScript's number type, (-0).toFixed(0) is '0', - * but e.g. (-0.00001).toFixed(0) is '-0'. - * - * [dp] {number} Decimal places. Integer, 0 to MAX inclusive. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp|rm}' - */ - P.toFixed = function (dp, rm) { - if (dp != null) { - intCheck(dp, 0, MAX); - dp = dp + this.e + 1; - } - return format(this, dp, rm); - }; - - - /* - * Return a string representing the value of this BigNumber in fixed-point notation rounded - * using rm or ROUNDING_MODE to dp decimal places, and formatted according to the properties - * of the format or FORMAT object (see BigNumber.set). - * - * The formatting object may contain some or all of the properties shown below. - * - * FORMAT = { - * prefix: '', - * groupSize: 3, - * secondaryGroupSize: 0, - * groupSeparator: ',', - * decimalSeparator: '.', - * fractionGroupSize: 0, - * fractionGroupSeparator: '\xA0', // non-breaking space - * suffix: '' - * }; - * - * [dp] {number} Decimal places. Integer, 0 to MAX inclusive. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * [format] {object} Formatting options. See FORMAT pbject above. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {dp|rm}' - * '[BigNumber Error] Argument not an object: {format}' - */ - P.toFormat = function (dp, rm, format) { - var str, - x = this; - - if (format == null) { - if (dp != null && rm && typeof rm == 'object') { - format = rm; - rm = null; - } else if (dp && typeof dp == 'object') { - format = dp; - dp = rm = null; - } else { - format = FORMAT; - } - } else if (typeof format != 'object') { - throw Error - (bignumberError + 'Argument not an object: ' + format); - } - - str = x.toFixed(dp, rm); - - if (x.c) { - var i, - arr = str.split('.'), - g1 = +format.groupSize, - g2 = +format.secondaryGroupSize, - groupSeparator = format.groupSeparator || '', - intPart = arr[0], - fractionPart = arr[1], - isNeg = x.s < 0, - intDigits = isNeg ? intPart.slice(1) : intPart, - len = intDigits.length; - - if (g2) i = g1, g1 = g2, g2 = i, len -= i; - - if (g1 > 0 && len > 0) { - i = len % g1 || g1; - intPart = intDigits.substr(0, i); - for (; i < len; i += g1) intPart += groupSeparator + intDigits.substr(i, g1); - if (g2 > 0) intPart += groupSeparator + intDigits.slice(i); - if (isNeg) intPart = '-' + intPart; - } - - str = fractionPart - ? intPart + (format.decimalSeparator || '') + ((g2 = +format.fractionGroupSize) - ? fractionPart.replace(new RegExp('\\d{' + g2 + '}\\B', 'g'), - '$&' + (format.fractionGroupSeparator || '')) - : fractionPart) - : intPart; - } - - return (format.prefix || '') + str + (format.suffix || ''); - }; - - - /* - * Return an array of two BigNumbers representing the value of this BigNumber as a simple - * fraction with an integer numerator and an integer denominator. - * The denominator will be a positive non-zero value less than or equal to the specified - * maximum denominator. If a maximum denominator is not specified, the denominator will be - * the lowest value necessary to represent the number exactly. - * - * [md] {number|string|BigNumber} Integer >= 1, or Infinity. The maximum denominator. - * - * '[BigNumber Error] Argument {not an integer|out of range} : {md}' - */ - P.toFraction = function (md) { - var d, d0, d1, d2, e, exp, n, n0, n1, q, r, s, - x = this, - xc = x.c; - - if (md != null) { - n = new BigNumber(md); - - // Throw if md is less than one or is not an integer, unless it is Infinity. - if (!n.isInteger() && (n.c || n.s !== 1) || n.lt(ONE)) { - throw Error - (bignumberError + 'Argument ' + - (n.isInteger() ? 'out of range: ' : 'not an integer: ') + valueOf(n)); - } - } - - if (!xc) return new BigNumber(x); - - d = new BigNumber(ONE); - n1 = d0 = new BigNumber(ONE); - d1 = n0 = new BigNumber(ONE); - s = coeffToString(xc); - - // Determine initial denominator. - // d is a power of 10 and the minimum max denominator that specifies the value exactly. - e = d.e = s.length - x.e - 1; - d.c[0] = POWS_TEN[(exp = e % LOG_BASE) < 0 ? LOG_BASE + exp : exp]; - md = !md || n.comparedTo(d) > 0 ? (e > 0 ? d : n1) : n; - - exp = MAX_EXP; - MAX_EXP = 1 / 0; - n = new BigNumber(s); - - // n0 = d1 = 0 - n0.c[0] = 0; - - for (; ;) { - q = div(n, d, 0, 1); - d2 = d0.plus(q.times(d1)); - if (d2.comparedTo(md) == 1) break; - d0 = d1; - d1 = d2; - n1 = n0.plus(q.times(d2 = n1)); - n0 = d2; - d = n.minus(q.times(d2 = d)); - n = d2; - } - - d2 = div(md.minus(d0), d1, 0, 1); - n0 = n0.plus(d2.times(n1)); - d0 = d0.plus(d2.times(d1)); - n0.s = n1.s = x.s; - e = e * 2; - - // Determine which fraction is closer to x, n0/d0 or n1/d1 - r = div(n1, d1, e, ROUNDING_MODE).minus(x).abs().comparedTo( - div(n0, d0, e, ROUNDING_MODE).minus(x).abs()) < 1 ? [n1, d1] : [n0, d0]; - - MAX_EXP = exp; - - return r; - }; - - - /* - * Return the value of this BigNumber converted to a number primitive. - */ - P.toNumber = function () { - return +valueOf(this); - }; - - - /* - * Return a string representing the value of this BigNumber rounded to sd significant digits - * using rounding mode rm or ROUNDING_MODE. If sd is less than the number of digits - * necessary to represent the integer part of the value in fixed-point notation, then use - * exponential notation. - * - * [sd] {number} Significant digits. Integer, 1 to MAX inclusive. - * [rm] {number} Rounding mode. Integer, 0 to 8 inclusive. - * - * '[BigNumber Error] Argument {not a primitive number|not an integer|out of range}: {sd|rm}' - */ - P.toPrecision = function (sd, rm) { - if (sd != null) intCheck(sd, 1, MAX); - return format(this, sd, rm, 2); - }; - - - /* - * Return a string representing the value of this BigNumber in base b, or base 10 if b is - * omitted. If a base is specified, including base 10, round according to DECIMAL_PLACES and - * ROUNDING_MODE. If a base is not specified, and this BigNumber has a positive exponent - * that is equal to or greater than TO_EXP_POS, or a negative exponent equal to or less than - * TO_EXP_NEG, return exponential notation. - * - * [b] {number} Integer, 2 to ALPHABET.length inclusive. - * - * '[BigNumber Error] Base {not a primitive number|not an integer|out of range}: {b}' - */ - P.toString = function (b) { - var str, - n = this, - s = n.s, - e = n.e; - - // Infinity or NaN? - if (e === null) { - if (s) { - str = 'Infinity'; - if (s < 0) str = '-' + str; - } else { - str = 'NaN'; - } - } else { - if (b == null) { - str = e <= TO_EXP_NEG || e >= TO_EXP_POS - ? toExponential(coeffToString(n.c), e) - : toFixedPoint(coeffToString(n.c), e, '0'); - } else if (b === 10) { - n = round(new BigNumber(n), DECIMAL_PLACES + e + 1, ROUNDING_MODE); - str = toFixedPoint(coeffToString(n.c), n.e, '0'); - } else { - intCheck(b, 2, ALPHABET.length, 'Base'); - str = convertBase(toFixedPoint(coeffToString(n.c), e, '0'), 10, b, s, true); - } - - if (s < 0 && n.c[0]) str = '-' + str; - } - - return str; - }; - - - /* - * Return as toString, but do not accept a base argument, and include the minus sign for - * negative zero. - */ - P.valueOf = P.toJSON = function () { - return valueOf(this); - }; - - - P._isBigNumber = true; - - P[Symbol.toStringTag] = 'BigNumber'; - - // Node.js v10.12.0+ - P[Symbol.for('nodejs.util.inspect.custom')] = P.valueOf; - - if (configObject != null) BigNumber.set(configObject); - - return BigNumber; -} - - -// PRIVATE HELPER FUNCTIONS - -// These functions don't need access to variables, -// e.g. DECIMAL_PLACES, in the scope of the `clone` function above. - - -function bitFloor(n) { - var i = n | 0; - return n > 0 || n === i ? i : i - 1; -} - - -// Return a coefficient array as a string of base 10 digits. -function coeffToString(a) { - var s, z, - i = 1, - j = a.length, - r = a[0] + ''; - - for (; i < j;) { - s = a[i++] + ''; - z = LOG_BASE - s.length; - for (; z--; s = '0' + s); - r += s; - } - - // Determine trailing zeros. - for (j = r.length; r.charCodeAt(--j) === 48;); - - return r.slice(0, j + 1 || 1); -} - - -// Compare the value of BigNumbers x and y. -function compare(x, y) { - var a, b, - xc = x.c, - yc = y.c, - i = x.s, - j = y.s, - k = x.e, - l = y.e; - - // Either NaN? - if (!i || !j) return null; - - a = xc && !xc[0]; - b = yc && !yc[0]; - - // Either zero? - if (a || b) return a ? b ? 0 : -j : i; - - // Signs differ? - if (i != j) return i; - - a = i < 0; - b = k == l; - - // Either Infinity? - if (!xc || !yc) return b ? 0 : !xc ^ a ? 1 : -1; - - // Compare exponents. - if (!b) return k > l ^ a ? 1 : -1; - - j = (k = xc.length) < (l = yc.length) ? k : l; - - // Compare digit by digit. - for (i = 0; i < j; i++) if (xc[i] != yc[i]) return xc[i] > yc[i] ^ a ? 1 : -1; - - // Compare lengths. - return k == l ? 0 : k > l ^ a ? 1 : -1; -} - - -/* - * Check that n is a primitive number, an integer, and in range, otherwise throw. - */ -function intCheck(n, min, max, name) { - if (n < min || n > max || n !== mathfloor(n)) { - throw Error - (bignumberError + (name || 'Argument') + (typeof n == 'number' - ? n < min || n > max ? ' out of range: ' : ' not an integer: ' - : ' not a primitive number: ') + String(n)); - } -} - - -// Assumes finite n. -function isOdd(n) { - var k = n.c.length - 1; - return bitFloor(n.e / LOG_BASE) == k && n.c[k] % 2 != 0; -} - - -function toExponential(str, e) { - return (str.length > 1 ? str.charAt(0) + '.' + str.slice(1) : str) + - (e < 0 ? 'e' : 'e+') + e; -} - - -function toFixedPoint(str, e, z) { - var len, zs; - - // Negative exponent? - if (e < 0) { - - // Prepend zeros. - for (zs = z + '.'; ++e; zs += z); - str = zs + str; - - // Positive exponent - } else { - len = str.length; - - // Append zeros. - if (++e > len) { - for (zs = z, e -= len; --e; zs += z); - str += zs; - } else if (e < len) { - str = str.slice(0, e) + '.' + str.slice(e); - } - } - - return str; -} - - -// EXPORT - - -export var BigNumber = clone(); - -export default BigNumber; diff --git a/node_modules/bignumber.js/doc/API.html b/node_modules/bignumber.js/doc/API.html deleted file mode 100644 index 1ed4a87..0000000 --- a/node_modules/bignumber.js/doc/API.html +++ /dev/null @@ -1,2237 +0,0 @@ - - - - - - -bignumber.js API - - - - -
- - v8.1.0 - - API - - CONSTRUCTOR - - - Methods - - - Properties - - - INSTANCE - - Methods - - - Properties - - - Zero, NaN & Infinity - Errors - Type coercion - FAQ - -
- -
- -

bignumber.js

- -

A JavaScript library for arbitrary-precision arithmetic.

-

Hosted on GitHub.

- -

API

- -

- See the README on GitHub for a - quick-start introduction. -

-

- In all examples below, var and semicolons are not shown, and if a commented-out - value is in quotes it means toString has been called on the preceding expression. -

- - -

CONSTRUCTOR

- - -
- BigNumberBigNumber(n [, base]) ⇒ BigNumber -
-

- n: number|string|BigNumber
- base: number: integer, 2 to 36 inclusive. (See - ALPHABET to extend this range). -

-

- Returns a new instance of a BigNumber object with value n, where n - is a numeric value in the specified base, or base 10 if - base is omitted or is null or undefined. -

- 
-x = new BigNumber(123.4567)                // '123.4567'
-// 'new' is optional
-y = BigNumber(x)                           // '123.4567'
-

- If n is a base 10 value it can be in normal (fixed-point) or - exponential notation. Values in other bases must be in normal notation. Values in any base can - have fraction digits, i.e. digits after the decimal point. -

- 
-new BigNumber(43210)                       // '43210'
-new BigNumber('4.321e+4')                  // '43210'
-new BigNumber('-735.0918e-430')            // '-7.350918e-428'
-new BigNumber('123412421.234324', 5)       // '607236.557696'
-

- Signed 0, signed Infinity and NaN are supported. -

- 
-new BigNumber('-Infinity')                 // '-Infinity'
-new BigNumber(NaN)                         // 'NaN'
-new BigNumber(-0)                          // '0'
-new BigNumber('.5')                        // '0.5'
-new BigNumber('+2')                        // '2'
-

- String values in hexadecimal literal form, e.g. '0xff', are valid, as are - string values with the octal and binary prefixs '0o' and '0b'. - String values in octal literal form without the prefix will be interpreted as - decimals, e.g. '011' is interpreted as 11, not 9. -

- 
-new BigNumber(-10110100.1, 2)              // '-180.5'
-new BigNumber('-0b10110100.1')             // '-180.5'
-new BigNumber('ff.8', 16)                  // '255.5'
-new BigNumber('0xff.8')                    // '255.5'
-

- If a base is specified, n is rounded according to the current - DECIMAL_PLACES and - ROUNDING_MODE settings. This includes base - 10 so don't include a base parameter for decimal values unless - this behaviour is wanted. -

- 
BigNumber.config({ DECIMAL_PLACES: 5 })
-new BigNumber(1.23456789)                  // '1.23456789'
-new BigNumber(1.23456789, 10)              // '1.23457'
-

An error is thrown if base is invalid. See Errors.

-

- There is no limit to the number of digits of a value of type string (other than - that of JavaScript's maximum array size). See RANGE to set - the maximum and minimum possible exponent value of a BigNumber. -

- 
-new BigNumber('5032485723458348569331745.33434346346912144534543')
-new BigNumber('4.321e10000000')
-

BigNumber NaN is returned if n is invalid - (unless BigNumber.DEBUG is true, see below).

- 
-new BigNumber('.1*')                       // 'NaN'
-new BigNumber('blurgh')                    // 'NaN'
-new BigNumber(9, 2)                        // 'NaN'
-

- To aid in debugging, if BigNumber.DEBUG is true then an error will - be thrown on an invalid n. An error will also be thrown if n is of - type number with more than 15 significant digits, as calling - toString or valueOf on - these numbers may not result in the intended value. -

- 
-console.log(823456789123456.3)            //  823456789123456.2
-new BigNumber(823456789123456.3)          // '823456789123456.2'
-BigNumber.DEBUG = true
-// '[BigNumber Error] Number primitive has more than 15 significant digits'
-new BigNumber(823456789123456.3)
-// '[BigNumber Error] Not a base 2 number'
-new BigNumber(9, 2)
-

- A BigNumber can also be created from an object literal. - Use isBigNumber to check that it is well-formed. -

- 
new BigNumber({ s: 1, e: 2, c: [ 777, 12300000000000 ], _isBigNumber: true })    // '777.123'
- - - - -

Methods

-

The static methods of a BigNumber constructor.

- - - - -
clone - .clone([object]) ⇒ BigNumber constructor -
-

object: object

-

- Returns a new independent BigNumber constructor with configuration as described by - object (see config), or with the default - configuration if object is null or undefined. -

-

- Throws if object is not an object. See Errors. -

- 
BigNumber.config({ DECIMAL_PLACES: 5 })
-BN = BigNumber.clone({ DECIMAL_PLACES: 9 })
-
-x = new BigNumber(1)
-y = new BN(1)
-
-x.div(3)                        // 0.33333
-y.div(3)                        // 0.333333333
-
-// BN = BigNumber.clone({ DECIMAL_PLACES: 9 }) is equivalent to:
-BN = BigNumber.clone()
-BN.config({ DECIMAL_PLACES: 9 })
- - - -
configset([object]) ⇒ object
-

- object: object: an object that contains some or all of the following - properties. -

-

Configures the settings for this particular BigNumber constructor.

- -
-
DECIMAL_PLACES
-
- number: integer, 0 to 1e+9 inclusive
- Default value: 20 -
-
- The maximum number of decimal places of the results of operations involving - division, i.e. division, square root and base conversion operations, and power - operations with negative exponents.
-
-
- 
BigNumber.config({ DECIMAL_PLACES: 5 })
-BigNumber.set({ DECIMAL_PLACES: 5 })    // equivalent
-
- - - -
ROUNDING_MODE
-
- number: integer, 0 to 8 inclusive
- Default value: 4 (ROUND_HALF_UP) -
-
- The rounding mode used in the above operations and the default rounding mode of - decimalPlaces, - precision, - toExponential, - toFixed, - toFormat and - toPrecision. -
-
The modes are available as enumerated properties of the BigNumber constructor.
-
- 
BigNumber.config({ ROUNDING_MODE: 0 })
-BigNumber.set({ ROUNDING_MODE: BigNumber.ROUND_UP })    // equivalent
-
- - - -
EXPONENTIAL_AT
-
- number: integer, magnitude 0 to 1e+9 inclusive, or -
- number[]: [ integer -1e+9 to 0 inclusive, integer - 0 to 1e+9 inclusive ]
- Default value: [-7, 20] -
-
- The exponent value(s) at which toString returns exponential notation. -
-
- If a single number is assigned, the value is the exponent magnitude.
- If an array of two numbers is assigned then the first number is the negative exponent - value at and beneath which exponential notation is used, and the second number is the - positive exponent value at and above which the same. -
-
- For example, to emulate JavaScript numbers in terms of the exponent values at which they - begin to use exponential notation, use [-7, 20]. -
-
- 
BigNumber.config({ EXPONENTIAL_AT: 2 })
-new BigNumber(12.3)         // '12.3'        e is only 1
-new BigNumber(123)          // '1.23e+2'
-new BigNumber(0.123)        // '0.123'       e is only -1
-new BigNumber(0.0123)       // '1.23e-2'
-
-BigNumber.config({ EXPONENTIAL_AT: [-7, 20] })
-new BigNumber(123456789)    // '123456789'   e is only 8
-new BigNumber(0.000000123)  // '1.23e-7'
-
-// Almost never return exponential notation:
-BigNumber.config({ EXPONENTIAL_AT: 1e+9 })
-
-// Always return exponential notation:
-BigNumber.config({ EXPONENTIAL_AT: 0 })
-
-
- Regardless of the value of EXPONENTIAL_AT, the toFixed method - will always return a value in normal notation and the toExponential method - will always return a value in exponential form. -
-
- Calling toString with a base argument, e.g. toString(10), will - also always return normal notation. -
- - - -
RANGE
-
- number: integer, magnitude 1 to 1e+9 inclusive, or -
- number[]: [ integer -1e+9 to -1 inclusive, integer - 1 to 1e+9 inclusive ]
- Default value: [-1e+9, 1e+9] -
-
- The exponent value(s) beyond which overflow to Infinity and underflow to - zero occurs. -
-
- If a single number is assigned, it is the maximum exponent magnitude: values wth a - positive exponent of greater magnitude become Infinity and those with a - negative exponent of greater magnitude become zero. -
- If an array of two numbers is assigned then the first number is the negative exponent - limit and the second number is the positive exponent limit. -
-
- For example, to emulate JavaScript numbers in terms of the exponent values at which they - become zero and Infinity, use [-324, 308]. -
-
- 
BigNumber.config({ RANGE: 500 })
-BigNumber.config().RANGE     // [ -500, 500 ]
-new BigNumber('9.999e499')   // '9.999e+499'
-new BigNumber('1e500')       // 'Infinity'
-new BigNumber('1e-499')      // '1e-499'
-new BigNumber('1e-500')      // '0'
-
-BigNumber.config({ RANGE: [-3, 4] })
-new BigNumber(99999)         // '99999'      e is only 4
-new BigNumber(100000)        // 'Infinity'   e is 5
-new BigNumber(0.001)         // '0.01'       e is only -3
-new BigNumber(0.0001)        // '0'          e is -4
-
-
- The largest possible magnitude of a finite BigNumber is - 9.999...e+1000000000.
- The smallest possible magnitude of a non-zero BigNumber is 1e-1000000000. -
- - - -
CRYPTO
-
- boolean: true or false.
- Default value: false -
-
- The value that determines whether cryptographically-secure pseudo-random number - generation is used. -
-
- If CRYPTO is set to true then the - random method will generate random digits using - crypto.getRandomValues in browsers that support it, or - crypto.randomBytes if using Node.js. -
-
- If neither function is supported by the host environment then attempting to set - CRYPTO to true will fail and an exception will be thrown. -
-
- If CRYPTO is false then the source of randomness used will be - Math.random (which is assumed to generate at least 30 bits of - randomness). -
-
See random.
-
- 
-// Node.js
-global.crypto = require('crypto')
-
-BigNumber.config({ CRYPTO: true })
-BigNumber.config().CRYPTO       // true
-BigNumber.random()              // 0.54340758610486147524
-
- - - -
MODULO_MODE
-
- number: integer, 0 to 9 inclusive
- Default value: 1 (ROUND_DOWN) -
-
The modulo mode used when calculating the modulus: a mod n.
-
- The quotient, q = a / n, is calculated according to the - ROUNDING_MODE that corresponds to the chosen - MODULO_MODE. -
-
The remainder, r, is calculated as: r = a - n * q.
-
- The modes that are most commonly used for the modulus/remainder operation are shown in - the following table. Although the other rounding modes can be used, they may not give - useful results. -
-
- - - - - - - - - - - - - - - - - - - - - - -
PropertyValueDescription
ROUND_UP0 - The remainder is positive if the dividend is negative, otherwise it is negative. -
ROUND_DOWN1 - The remainder has the same sign as the dividend.
- This uses 'truncating division' and matches the behaviour of JavaScript's - remainder operator %. -
ROUND_FLOOR3 - The remainder has the same sign as the divisor.
- This matches Python's % operator. -
ROUND_HALF_EVEN6The IEEE 754 remainder function.
EUCLID9 - The remainder is always positive. Euclidian division:
- q = sign(n) * floor(a / abs(n)) -
-
-
- The rounding/modulo modes are available as enumerated properties of the BigNumber - constructor. -
-
See modulo.
-
- 
BigNumber.config({ MODULO_MODE: BigNumber.EUCLID })
-BigNumber.config({ MODULO_MODE: 9 })          // equivalent
-
- - - -
POW_PRECISION
-
- number: integer, 0 to 1e+9 inclusive.
- Default value: 0 -
-
- The maximum precision, i.e. number of significant digits, of the result of the power - operation (unless a modulus is specified). -
-
If set to 0, the number of significant digits will not be limited.
-
See exponentiatedBy.
- 
BigNumber.config({ POW_PRECISION: 100 })
- - - -
FORMAT
-
object
-
- The FORMAT object configures the format of the string returned by the - toFormat method. -
-
- The example below shows the properties of the FORMAT object that are - recognised, and their default values. -
-
- Unlike the other configuration properties, the values of the properties of the - FORMAT object will not be checked for validity. The existing - FORMAT object will simply be replaced by the object that is passed in. - The object can include any number of the properties shown below. -
-
See toFormat for examples of usage.
-
- 
-BigNumber.config({
-  FORMAT: {
-    // string to prepend
-    prefix: '',
-    // decimal separator
-    decimalSeparator: '.',
-    // grouping separator of the integer part
-    groupSeparator: ',',
-    // primary grouping size of the integer part
-    groupSize: 3,
-    // secondary grouping size of the integer part
-    secondaryGroupSize: 0,
-    // grouping separator of the fraction part
-    fractionGroupSeparator: ' ',
-    // grouping size of the fraction part
-    fractionGroupSize: 0,
-    // string to append
-    suffix: ''
-  }
-});
-
- - - -
ALPHABET
-
- string
- Default value: '0123456789abcdefghijklmnopqrstuvwxyz' -
-
- The alphabet used for base conversion. The length of the alphabet corresponds to the - maximum value of the base argument that can be passed to the - BigNumber constructor or - toString. -
-
- There is no maximum length for the alphabet, but it must be at least 2 characters long, and - it must not contain whitespace or a repeated character, or the sign indicators - '+' and '-', or the decimal separator '.'. -
-
- 
// duodecimal (base 12)
-BigNumber.config({ ALPHABET: '0123456789TE' })
-x = new BigNumber('T', 12)
-x.toString()                // '10'
-x.toString(12)              // 'T'
-
- - - -
-

-

Returns an object with the above properties and their current values.

-

- Throws if object is not an object, or if an invalid value is assigned to - one or more of the above properties. See Errors. -

- 
-BigNumber.config({
-  DECIMAL_PLACES: 40,
-  ROUNDING_MODE: BigNumber.ROUND_HALF_CEIL,
-  EXPONENTIAL_AT: [-10, 20],
-  RANGE: [-500, 500],
-  CRYPTO: true,
-  MODULO_MODE: BigNumber.ROUND_FLOOR,
-  POW_PRECISION: 80,
-  FORMAT: {
-    groupSize: 3,
-    groupSeparator: ' ',
-    decimalSeparator: ','
-  },
-  ALPHABET: '0123456789abcdefghijklmnopqrstuvwxyzABCDEFGHIJKLMNOPQRSTUVWXYZ$_'
-});
-
-obj = BigNumber.config();
-obj.DECIMAL_PLACES        // 40
-obj.RANGE                 // [-500, 500]
- - - -
- isBigNumber.isBigNumber(value) ⇒ boolean -
-

value: any

-

- Returns true if value is a BigNumber instance, otherwise returns - false. -

- 
x = 42
-y = new BigNumber(x)
-
-BigNumber.isBigNumber(x)             // false
-y instanceof BigNumber               // true
-BigNumber.isBigNumber(y)             // true
-
-BN = BigNumber.clone();
-z = new BN(x)
-z instanceof BigNumber               // false
-BigNumber.isBigNumber(z)             // true
-

- If value is a BigNumber instance and BigNumber.DEBUG is true, - then this method will also check if value is well-formed, and throw if it is not. - See Errors. -

-

- The check can be useful if creating a BigNumber from an object literal. - See BigNumber. -

- 
-x = new BigNumber(10)
-
-// Change x.c to an illegitimate value.
-x.c = NaN
-
-BigNumber.DEBUG = false
-
-// No error.
-BigNumber.isBigNumber(x)    // true
-
-BigNumber.DEBUG = true
-
-// Error.
-BigNumber.isBigNumber(x)    // '[BigNumber Error] Invalid BigNumber'
- - - -
maximum.max(n...) ⇒ BigNumber
-

- n: number|string|BigNumber
- See BigNumber for further parameter details. -

-

- Returns a BigNumber whose value is the maximum of the arguments. -

-

The return value is always exact and unrounded.

- 
x = new BigNumber('3257869345.0378653')
-BigNumber.maximum(4e9, x, '123456789.9')      // '4000000000'
-
-arr = [12, '13', new BigNumber(14)]
-BigNumber.max.apply(null, arr)                // '14'
- - - -
minimum.min(n...) ⇒ BigNumber
-

- n: number|string|BigNumber
- See BigNumber for further parameter details. -

-

- Returns a BigNumber whose value is the minimum of the arguments. -

-

The return value is always exact and unrounded.

- 
x = new BigNumber('3257869345.0378653')
-BigNumber.minimum(4e9, x, '123456789.9')      // '123456789.9'
-
-arr = [2, new BigNumber(-14), '-15.9999', -12]
-BigNumber.min.apply(null, arr)                // '-15.9999'
- - - -
- random.random([dp]) ⇒ BigNumber -
-

dp: number: integer, 0 to 1e+9 inclusive

-

- Returns a new BigNumber with a pseudo-random value equal to or greater than 0 and - less than 1. -

-

- The return value will have dp decimal places (or less if trailing zeros are - produced).
- If dp is omitted then the number of decimal places will default to the current - DECIMAL_PLACES setting. -

-

- Depending on the value of this BigNumber constructor's - CRYPTO setting and the support for the - crypto object in the host environment, the random digits of the return value are - generated by either Math.random (fastest), crypto.getRandomValues - (Web Cryptography API in recent browsers) or crypto.randomBytes (Node.js). -

-

- To be able to set CRYPTO to true when using - Node.js, the crypto object must be available globally: -

- 
global.crypto = require('crypto')
-

- If CRYPTO is true, i.e. one of the - crypto methods is to be used, the value of a returned BigNumber should be - cryptographically-secure and statistically indistinguishable from a random value. -

-

- Throws if dp is invalid. See Errors. -

- 
BigNumber.config({ DECIMAL_PLACES: 10 })
-BigNumber.random()              // '0.4117936847'
-BigNumber.random(20)            // '0.78193327636914089009'
- - - -
sum.sum(n...) ⇒ BigNumber
-

- n: number|string|BigNumber
- See BigNumber for further parameter details. -

-

Returns a BigNumber whose value is the sum of the arguments.

-

The return value is always exact and unrounded.

- 
x = new BigNumber('3257869345.0378653')
-BigNumber.sum(4e9, x, '123456789.9')      // '7381326134.9378653'
-
-arr = [2, new BigNumber(14), '15.9999', 12]
-BigNumber.sum.apply(null, arr)            // '43.9999'
- - - -

Properties

-

- The library's enumerated rounding modes are stored as properties of the constructor.
- (They are not referenced internally by the library itself.) -

-

- Rounding modes 0 to 6 (inclusive) are the same as those of Java's - BigDecimal class. -

- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
PropertyValueDescription
ROUND_UP0Rounds away from zero
ROUND_DOWN1Rounds towards zero
ROUND_CEIL2Rounds towards Infinity
ROUND_FLOOR3Rounds towards -Infinity
ROUND_HALF_UP4 - Rounds towards nearest neighbour.
- If equidistant, rounds away from zero -
ROUND_HALF_DOWN5 - Rounds towards nearest neighbour.
- If equidistant, rounds towards zero -
ROUND_HALF_EVEN6 - Rounds towards nearest neighbour.
- If equidistant, rounds towards even neighbour -
ROUND_HALF_CEIL7 - Rounds towards nearest neighbour.
- If equidistant, rounds towards Infinity -
ROUND_HALF_FLOOR8 - Rounds towards nearest neighbour.
- If equidistant, rounds towards -Infinity -
- 
-BigNumber.config({ ROUNDING_MODE: BigNumber.ROUND_CEIL })
-BigNumber.config({ ROUNDING_MODE: 2 })     // equivalent
- -
DEBUG
-

undefined|false|true

-

- If BigNumber.DEBUG is set true then an error will be thrown - if this BigNumber constructor receives an invalid value, such as - a value of type number with more than 15 significant digits. - See BigNumber. -

-

- An error will also be thrown if the isBigNumber - method receives a BigNumber that is not well-formed. - See isBigNumber. -

- 
BigNumber.DEBUG = true
- - -

INSTANCE

- - -

Methods

-

The methods inherited by a BigNumber instance from its constructor's prototype object.

-

A BigNumber is immutable in the sense that it is not changed by its methods.

-

- The treatment of ±0, ±Infinity and NaN is - consistent with how JavaScript treats these values. -

-

Many method names have a shorter alias.

- - - -
absoluteValue.abs() ⇒ BigNumber
-

- Returns a BigNumber whose value is the absolute value, i.e. the magnitude, of the value of - this BigNumber. -

-

The return value is always exact and unrounded.

- 
-x = new BigNumber(-0.8)
-y = x.absoluteValue()           // '0.8'
-z = y.abs()                     // '0.8'
- - - -
- comparedTo.comparedTo(n [, base]) ⇒ number -
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

- - - - - - - - - - - - - - - - - - -
Returns 
1If the value of this BigNumber is greater than the value of n
-1If the value of this BigNumber is less than the value of n
0If this BigNumber and n have the same value
nullIf the value of either this BigNumber or n is NaN
- 
-x = new BigNumber(Infinity)
-y = new BigNumber(5)
-x.comparedTo(y)                 // 1
-x.comparedTo(x.minus(1))        // 0
-y.comparedTo(NaN)               // null
-y.comparedTo('110', 2)          // -1
- - - -
- decimalPlaces.dp([dp [, rm]]) ⇒ BigNumber|number -
-

- dp: number: integer, 0 to 1e+9 inclusive
- rm: number: integer, 0 to 8 inclusive -

-

- If dp is a number, returns a BigNumber whose value is the value of this BigNumber - rounded by rounding mode rm to a maximum of dp decimal places. -

-

- If dp is omitted, or is null or undefined, the return - value is the number of decimal places of the value of this BigNumber, or null if - the value of this BigNumber is ±Infinity or NaN. -

-

- If rm is omitted, or is null or undefined, - ROUNDING_MODE is used. -

-

- Throws if dp or rm is invalid. See Errors. -

- 
-x = new BigNumber(1234.56)
-x.decimalPlaces(1)                     // '1234.6'
-x.dp()                                 // 2
-x.decimalPlaces(2)                     // '1234.56'
-x.dp(10)                               // '1234.56'
-x.decimalPlaces(0, 1)                  // '1234'
-x.dp(0, 6)                             // '1235'
-x.decimalPlaces(1, 1)                  // '1234.5'
-x.dp(1, BigNumber.ROUND_HALF_EVEN)     // '1234.6'
-x                                      // '1234.56'
-y = new BigNumber('9.9e-101')
-y.dp()                                 // 102
- - - -
dividedBy.div(n [, base]) ⇒ BigNumber -
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns a BigNumber whose value is the value of this BigNumber divided by - n, rounded according to the current - DECIMAL_PLACES and - ROUNDING_MODE settings. -

- 
-x = new BigNumber(355)
-y = new BigNumber(113)
-x.dividedBy(y)                  // '3.14159292035398230088'
-x.div(5)                        // '71'
-x.div(47, 16)                   // '5'
- - - -
- dividedToIntegerBy.idiv(n [, base]) ⇒ - BigNumber -
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns a BigNumber whose value is the integer part of dividing the value of this BigNumber by - n. -

- 
-x = new BigNumber(5)
-y = new BigNumber(3)
-x.dividedToIntegerBy(y)         // '1'
-x.idiv(0.7)                     // '7'
-x.idiv('0.f', 16)               // '5'
- - - -
- exponentiatedBy.pow(n [, m]) ⇒ BigNumber -
-

- n: number|string|BigNumber: integer
- m: number|string|BigNumber -

-

- Returns a BigNumber whose value is the value of this BigNumber exponentiated by - n, i.e. raised to the power n, and optionally modulo a modulus - m. -

-

- Throws if n is not an integer. See Errors. -

-

- If n is negative the result is rounded according to the current - DECIMAL_PLACES and - ROUNDING_MODE settings. -

-

- As the number of digits of the result of the power operation can grow so large so quickly, - e.g. 123.45610000 has over 50000 digits, the number of significant - digits calculated is limited to the value of the - POW_PRECISION setting (unless a modulus - m is specified). -

-

- By default POW_PRECISION is set to 0. - This means that an unlimited number of significant digits will be calculated, and that the - method's performance will decrease dramatically for larger exponents. -

-

- If m is specified and the value of m, n and this - BigNumber are integers, and n is positive, then a fast modular exponentiation - algorithm is used, otherwise the operation will be performed as - x.exponentiatedBy(n).modulo(m) with a - POW_PRECISION of 0. -

- 
-Math.pow(0.7, 2)                // 0.48999999999999994
-x = new BigNumber(0.7)
-x.exponentiatedBy(2)            // '0.49'
-BigNumber(3).pow(-2)            // '0.11111111111111111111'
- - - -
- integerValue.integerValue([rm]) ⇒ BigNumber -
-

- rm: number: integer, 0 to 8 inclusive -

-

- Returns a BigNumber whose value is the value of this BigNumber rounded to an integer using - rounding mode rm. -

-

- If rm is omitted, or is null or undefined, - ROUNDING_MODE is used. -

-

- Throws if rm is invalid. See Errors. -

- 
-x = new BigNumber(123.456)
-x.integerValue()                        // '123'
-x.integerValue(BigNumber.ROUND_CEIL)    // '124'
-y = new BigNumber(-12.7)
-y.integerValue()                        // '-13'
-y.integerValue(BigNumber.ROUND_DOWN)    // '-12'
-

- The following is an example of how to add a prototype method that emulates JavaScript's - Math.round function. Math.ceil, Math.floor and - Math.trunc can be emulated in the same way with - BigNumber.ROUND_CEIL, BigNumber.ROUND_FLOOR and - BigNumber.ROUND_DOWN respectively. -

- 
-BigNumber.prototype.round = function (n) {
-  return n.integerValue(BigNumber.ROUND_HALF_CEIL);
-};
-x.round()                               // '123'
- - - -
isEqualTo.eq(n [, base]) ⇒ boolean
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns true if the value of this BigNumber is equal to the value of - n, otherwise returns false.
- As with JavaScript, NaN does not equal NaN. -

-

Note: This method uses the comparedTo method internally.

- 
-0 === 1e-324                    // true
-x = new BigNumber(0)
-x.isEqualTo('1e-324')           // false
-BigNumber(-0).eq(x)             // true  ( -0 === 0 )
-BigNumber(255).eq('ff', 16)     // true
-
-y = new BigNumber(NaN)
-y.isEqualTo(NaN)                // false
- - - -
isFinite.isFinite() ⇒ boolean
-

- Returns true if the value of this BigNumber is a finite number, otherwise - returns false. -

-

- The only possible non-finite values of a BigNumber are NaN, Infinity - and -Infinity. -

- 
-x = new BigNumber(1)
-x.isFinite()                    // true
-y = new BigNumber(Infinity)
-y.isFinite()                    // false
-

- Note: The native method isFinite() can be used if - n <= Number.MAX_VALUE. -

- - - -
isGreaterThan.gt(n [, base]) ⇒ boolean
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns true if the value of this BigNumber is greater than the value of - n, otherwise returns false. -

-

Note: This method uses the comparedTo method internally.

- 
-0.1 > (0.3 - 0.2)                             // true
-x = new BigNumber(0.1)
-x.isGreaterThan(BigNumber(0.3).minus(0.2))    // false
-BigNumber(0).gt(x)                            // false
-BigNumber(11, 3).gt(11.1, 2)                  // true
- - - -
- isGreaterThanOrEqualTo.gte(n [, base]) ⇒ boolean -
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns true if the value of this BigNumber is greater than or equal to the value - of n, otherwise returns false. -

-

Note: This method uses the comparedTo method internally.

- 
-(0.3 - 0.2) >= 0.1                     // false
-x = new BigNumber(0.3).minus(0.2)
-x.isGreaterThanOrEqualTo(0.1)          // true
-BigNumber(1).gte(x)                    // true
-BigNumber(10, 18).gte('i', 36)         // true
- - - -
isInteger.isInteger() ⇒ boolean
-

- Returns true if the value of this BigNumber is an integer, otherwise returns - false. -

- 
-x = new BigNumber(1)
-x.isInteger()                   // true
-y = new BigNumber(123.456)
-y.isInteger()                   // false
- - - -
isLessThan.lt(n [, base]) ⇒ boolean
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns true if the value of this BigNumber is less than the value of - n, otherwise returns false. -

-

Note: This method uses the comparedTo method internally.

- 
-(0.3 - 0.2) < 0.1                       // true
-x = new BigNumber(0.3).minus(0.2)
-x.isLessThan(0.1)                       // false
-BigNumber(0).lt(x)                      // true
-BigNumber(11.1, 2).lt(11, 3)            // true
- - - -
- isLessThanOrEqualTo.lte(n [, base]) ⇒ boolean -
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns true if the value of this BigNumber is less than or equal to the value of - n, otherwise returns false. -

-

Note: This method uses the comparedTo method internally.

- 
-0.1 <= (0.3 - 0.2)                                // false
-x = new BigNumber(0.1)
-x.isLessThanOrEqualTo(BigNumber(0.3).minus(0.2))  // true
-BigNumber(-1).lte(x)                              // true
-BigNumber(10, 18).lte('i', 36)                    // true
- - - -
isNaN.isNaN() ⇒ boolean
-

- Returns true if the value of this BigNumber is NaN, otherwise - returns false. -

- 
-x = new BigNumber(NaN)
-x.isNaN()                       // true
-y = new BigNumber('Infinity')
-y.isNaN()                       // false
-

Note: The native method isNaN() can also be used.

- - - -
isNegative.isNegative() ⇒ boolean
-

- Returns true if the sign of this BigNumber is negative, otherwise returns - false. -

- 
-x = new BigNumber(-0)
-x.isNegative()                  // true
-y = new BigNumber(2)
-y.isNegative()                  // false
-

Note: n < 0 can be used if n <= -Number.MIN_VALUE.

- - - -
isPositive.isPositive() ⇒ boolean
-

- Returns true if the sign of this BigNumber is positive, otherwise returns - false. -

- 
-x = new BigNumber(-0)
-x.isPositive()                  // false
-y = new BigNumber(2)
-y.isPositive()                  // true
- - - -
isZero.isZero() ⇒ boolean
-

- Returns true if the value of this BigNumber is zero or minus zero, otherwise - returns false. -

- 
-x = new BigNumber(-0)
-x.isZero() && x.isNegative()         // true
-y = new BigNumber(Infinity)
-y.isZero()                      // false
-

Note: n == 0 can be used if n >= Number.MIN_VALUE.

- - - -
- minus.minus(n [, base]) ⇒ BigNumber -
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

Returns a BigNumber whose value is the value of this BigNumber minus n.

-

The return value is always exact and unrounded.

- 
-0.3 - 0.1                       // 0.19999999999999998
-x = new BigNumber(0.3)
-x.minus(0.1)                    // '0.2'
-x.minus(0.6, 20)                // '0'
- - - -
modulo.mod(n [, base]) ⇒ BigNumber
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns a BigNumber whose value is the value of this BigNumber modulo n, i.e. - the integer remainder of dividing this BigNumber by n. -

-

- The value returned, and in particular its sign, is dependent on the value of the - MODULO_MODE setting of this BigNumber constructor. - If it is 1 (default value), the result will have the same sign as this BigNumber, - and it will match that of Javascript's % operator (within the limits of double - precision) and BigDecimal's remainder method. -

-

The return value is always exact and unrounded.

-

- See MODULO_MODE for a description of the other - modulo modes. -

- 
-1 % 0.9                         // 0.09999999999999998
-x = new BigNumber(1)
-x.modulo(0.9)                   // '0.1'
-y = new BigNumber(33)
-y.mod('a', 33)                  // '3'
- - - -
- multipliedBy.times(n [, base]) ⇒ BigNumber -
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

- Returns a BigNumber whose value is the value of this BigNumber multiplied by n. -

-

The return value is always exact and unrounded.

- 
-0.6 * 3                         // 1.7999999999999998
-x = new BigNumber(0.6)
-y = x.multipliedBy(3)           // '1.8'
-BigNumber('7e+500').times(y)    // '1.26e+501'
-x.multipliedBy('-a', 16)        // '-6'
- - - -
negated.negated() ⇒ BigNumber
-

- Returns a BigNumber whose value is the value of this BigNumber negated, i.e. multiplied by - -1. -

- 
-x = new BigNumber(1.8)
-x.negated()                     // '-1.8'
-y = new BigNumber(-1.3)
-y.negated()                     // '1.3'
- - - -
plus.plus(n [, base]) ⇒ BigNumber
-

- n: number|string|BigNumber
- base: number
- See BigNumber for further parameter details. -

-

Returns a BigNumber whose value is the value of this BigNumber plus n.

-

The return value is always exact and unrounded.

- 
-0.1 + 0.2                       // 0.30000000000000004
-x = new BigNumber(0.1)
-y = x.plus(0.2)                 // '0.3'
-BigNumber(0.7).plus(x).plus(y)  // '1'
-x.plus('0.1', 8)                // '0.225'
- - - -
- precision.sd([d [, rm]]) ⇒ BigNumber|number -
-

- d: number|boolean: integer, 1 to 1e+9 - inclusive, or true or false
- rm: number: integer, 0 to 8 inclusive. -

-

- If d is a number, returns a BigNumber whose value is the value of this BigNumber - rounded to a precision of d significant digits using rounding mode - rm. -

-

- If d is omitted or is null or undefined, the return - value is the number of significant digits of the value of this BigNumber, or null - if the value of this BigNumber is ±Infinity or NaN.

-

-

- If d is true then any trailing zeros of the integer - part of a number are counted as significant digits, otherwise they are not. -

-

- If rm is omitted or is null or undefined, - ROUNDING_MODE will be used. -

-

- Throws if d or rm is invalid. See Errors. -

- 
-x = new BigNumber(9876.54321)
-x.precision(6)                         // '9876.54'
-x.sd()                                 // 9
-x.precision(6, BigNumber.ROUND_UP)     // '9876.55'
-x.sd(2)                                // '9900'
-x.precision(2, 1)                      // '9800'
-x                                      // '9876.54321'
-y = new BigNumber(987000)
-y.precision()                          // 3
-y.sd(true)                             // 6
- - - -
shiftedBy.shiftedBy(n) ⇒ BigNumber
-

- n: number: integer, - -9007199254740991 to 9007199254740991 inclusive -

-

- Returns a BigNumber whose value is the value of this BigNumber shifted by n - places. -

- The shift is of the decimal point, i.e. of powers of ten, and is to the left if n - is negative or to the right if n is positive. -

-

The return value is always exact and unrounded.

-

- Throws if n is invalid. See Errors. -

- 
-x = new BigNumber(1.23)
-x.shiftedBy(3)                      // '1230'
-x.shiftedBy(-3)                     // '0.00123'
- - - -
squareRoot.sqrt() ⇒ BigNumber
-

- Returns a BigNumber whose value is the square root of the value of this BigNumber, - rounded according to the current - DECIMAL_PLACES and - ROUNDING_MODE settings. -

-

- The return value will be correctly rounded, i.e. rounded as if the result was first calculated - to an infinite number of correct digits before rounding. -

- 
-x = new BigNumber(16)
-x.squareRoot()                  // '4'
-y = new BigNumber(3)
-y.sqrt()                        // '1.73205080756887729353'
- - - -
- toExponential.toExponential([dp [, rm]]) ⇒ string -
-

- dp: number: integer, 0 to 1e+9 inclusive
- rm: number: integer, 0 to 8 inclusive -

-

- Returns a string representing the value of this BigNumber in exponential notation rounded - using rounding mode rm to dp decimal places, i.e with one digit - before the decimal point and dp digits after it. -

-

- If the value of this BigNumber in exponential notation has fewer than dp fraction - digits, the return value will be appended with zeros accordingly. -

-

- If dp is omitted, or is null or undefined, the number - of digits after the decimal point defaults to the minimum number of digits necessary to - represent the value exactly.
- If rm is omitted or is null or undefined, - ROUNDING_MODE is used. -

-

- Throws if dp or rm is invalid. See Errors. -

- 
-x = 45.6
-y = new BigNumber(x)
-x.toExponential()               // '4.56e+1'
-y.toExponential()               // '4.56e+1'
-x.toExponential(0)              // '5e+1'
-y.toExponential(0)              // '5e+1'
-x.toExponential(1)              // '4.6e+1'
-y.toExponential(1)              // '4.6e+1'
-y.toExponential(1, 1)           // '4.5e+1'  (ROUND_DOWN)
-x.toExponential(3)              // '4.560e+1'
-y.toExponential(3)              // '4.560e+1'
- - - -
- toFixed.toFixed([dp [, rm]]) ⇒ string -
-

- dp: number: integer, 0 to 1e+9 inclusive
- rm: number: integer, 0 to 8 inclusive -

-

- Returns a string representing the value of this BigNumber in normal (fixed-point) notation - rounded to dp decimal places using rounding mode rm. -

-

- If the value of this BigNumber in normal notation has fewer than dp fraction - digits, the return value will be appended with zeros accordingly. -

-

- Unlike Number.prototype.toFixed, which returns exponential notation if a number - is greater or equal to 1021, this method will always return normal - notation. -

-

- If dp is omitted or is null or undefined, the return - value will be unrounded and in normal notation. This is also unlike - Number.prototype.toFixed, which returns the value to zero decimal places.
- It is useful when fixed-point notation is required and the current - EXPONENTIAL_AT setting causes - toString to return exponential notation.
- If rm is omitted or is null or undefined, - ROUNDING_MODE is used. -

-

- Throws if dp or rm is invalid. See Errors. -

- 
-x = 3.456
-y = new BigNumber(x)
-x.toFixed()                     // '3'
-y.toFixed()                     // '3.456'
-y.toFixed(0)                    // '3'
-x.toFixed(2)                    // '3.46'
-y.toFixed(2)                    // '3.46'
-y.toFixed(2, 1)                 // '3.45'  (ROUND_DOWN)
-x.toFixed(5)                    // '3.45600'
-y.toFixed(5)                    // '3.45600'
- - - -
- toFormat.toFormat([dp [, rm[, format]]]) ⇒ string -
-

- dp: number: integer, 0 to 1e+9 inclusive
- rm: number: integer, 0 to 8 inclusive
- format: object: see FORMAT -

-

-

- Returns a string representing the value of this BigNumber in normal (fixed-point) notation - rounded to dp decimal places using rounding mode rm, and formatted - according to the properties of the format object. -

-

- See FORMAT and the examples below for the properties of the - format object, their types, and their usage. A formatting object may contain - some or all of the recognised properties. -

-

- If dp is omitted or is null or undefined, then the - return value is not rounded to a fixed number of decimal places.
- If rm is omitted or is null or undefined, - ROUNDING_MODE is used.
- If format is omitted or is null or undefined, the - FORMAT object is used. -

-

- Throws if dp, rm or format is invalid. See - Errors. -

- 
-fmt = {
-  prefix = '',
-  decimalSeparator: '.',
-  groupSeparator: ',',
-  groupSize: 3,
-  secondaryGroupSize: 0,
-  fractionGroupSeparator: ' ',
-  fractionGroupSize: 0,
-  suffix = ''
-}
-
-x = new BigNumber('123456789.123456789')
-
-// Set the global formatting options
-BigNumber.config({ FORMAT: fmt })
-
-x.toFormat()                              // '123,456,789.123456789'
-x.toFormat(3)                             // '123,456,789.123'
-
-// If a reference to the object assigned to FORMAT has been retained,
-// the format properties can be changed directly
-fmt.groupSeparator = ' '
-fmt.fractionGroupSize = 5
-x.toFormat()                              // '123 456 789.12345 6789'
-
-// Alternatively, pass the formatting options as an argument
-fmt = {
-  prefix: '=> ',
-  decimalSeparator: ',',
-  groupSeparator: '.',
-  groupSize: 3,
-  secondaryGroupSize: 2
-}
-
-x.toFormat()                              // '123 456 789.12345 6789'
-x.toFormat(fmt)                           // '=> 12.34.56.789,123456789'
-x.toFormat(2, fmt)                        // '=> 12.34.56.789,12'
-x.toFormat(3, BigNumber.ROUND_UP, fmt)    // '=> 12.34.56.789,124'
- - - -
- toFraction.toFraction([maximum_denominator]) - ⇒ [BigNumber, BigNumber] -
-

- maximum_denominator: - number|string|BigNumber: integer >= 1 and <= - Infinity -

-

- Returns an array of two BigNumbers representing the value of this BigNumber as a simple - fraction with an integer numerator and an integer denominator. The denominator will be a - positive non-zero value less than or equal to maximum_denominator. -

-

- If a maximum_denominator is not specified, or is null or - undefined, the denominator will be the lowest value necessary to represent the - number exactly. -

-

- Throws if maximum_denominator is invalid. See Errors. -

- 
-x = new BigNumber(1.75)
-x.toFraction()                  // '7, 4'
-
-pi = new BigNumber('3.14159265358')
-pi.toFraction()                 // '157079632679,50000000000'
-pi.toFraction(100000)           // '312689, 99532'
-pi.toFraction(10000)            // '355, 113'
-pi.toFraction(100)              // '311, 99'
-pi.toFraction(10)               // '22, 7'
-pi.toFraction(1)                // '3, 1'
- - - -
toJSON.toJSON() ⇒ string
-

As valueOf.

- 
-x = new BigNumber('177.7e+457')
-y = new BigNumber(235.4325)
-z = new BigNumber('0.0098074')
-
-// Serialize an array of three BigNumbers
-str = JSON.stringify( [x, y, z] )
-// "["1.777e+459","235.4325","0.0098074"]"
-
-// Return an array of three BigNumbers
-JSON.parse(str, function (key, val) {
-    return key === '' ? val : new BigNumber(val)
-})
- - - -
toNumber.toNumber() ⇒ number
-

Returns the value of this BigNumber as a JavaScript number primitive.

-

- This method is identical to using type coercion with the unary plus operator. -

- 
-x = new BigNumber(456.789)
-x.toNumber()                    // 456.789
-+x                              // 456.789
-
-y = new BigNumber('45987349857634085409857349856430985')
-y.toNumber()                    // 4.598734985763409e+34
-
-z = new BigNumber(-0)
-1 / z.toNumber()                // -Infinity
-1 / +z                          // -Infinity
- - - -
- toPrecision.toPrecision([sd [, rm]]) ⇒ string -
-

- sd: number: integer, 1 to 1e+9 inclusive
- rm: number: integer, 0 to 8 inclusive -

-

- Returns a string representing the value of this BigNumber rounded to sd - significant digits using rounding mode rm. -

-

- If sd is less than the number of digits necessary to represent the integer part - of the value in normal (fixed-point) notation, then exponential notation is used. -

-

- If sd is omitted, or is null or undefined, then the - return value is the same as n.toString().
- If rm is omitted or is null or undefined, - ROUNDING_MODE is used. -

-

- Throws if sd or rm is invalid. See Errors. -

- 
-x = 45.6
-y = new BigNumber(x)
-x.toPrecision()                 // '45.6'
-y.toPrecision()                 // '45.6'
-x.toPrecision(1)                // '5e+1'
-y.toPrecision(1)                // '5e+1'
-y.toPrecision(2, 0)             // '4.6e+1'  (ROUND_UP)
-y.toPrecision(2, 1)             // '4.5e+1'  (ROUND_DOWN)
-x.toPrecision(5)                // '45.600'
-y.toPrecision(5)                // '45.600'
- - - -
toString.toString([base]) ⇒ string
-

- base: number: integer, 2 to ALPHABET.length - inclusive (see ALPHABET). -

-

- Returns a string representing the value of this BigNumber in the specified base, or base - 10 if base is omitted or is null or - undefined. -

-

- For bases above 10, and using the default base conversion alphabet - (see ALPHABET), values from 10 to - 35 are represented by a-z - (as with Number.prototype.toString). -

-

- If a base is specified the value is rounded according to the current - DECIMAL_PLACES - and ROUNDING_MODE settings. -

-

- If a base is not specified, and this BigNumber has a positive - exponent that is equal to or greater than the positive component of the - current EXPONENTIAL_AT setting, - or a negative exponent equal to or less than the negative component of the - setting, then exponential notation is returned. -

-

If base is null or undefined it is ignored.

-

- Throws if base is invalid. See Errors. -

- 
-x = new BigNumber(750000)
-x.toString()                    // '750000'
-BigNumber.config({ EXPONENTIAL_AT: 5 })
-x.toString()                    // '7.5e+5'
-
-y = new BigNumber(362.875)
-y.toString(2)                   // '101101010.111'
-y.toString(9)                   // '442.77777777777777777778'
-y.toString(32)                  // 'ba.s'
-
-BigNumber.config({ DECIMAL_PLACES: 4 });
-z = new BigNumber('1.23456789')
-z.toString()                    // '1.23456789'
-z.toString(10)                  // '1.2346'
- - - -
valueOf.valueOf() ⇒ string
-

- As toString, but does not accept a base argument and includes - the minus sign for negative zero. -

- 
-x = new BigNumber('-0')
-x.toString()                    // '0'
-x.valueOf()                     // '-0'
-y = new BigNumber('1.777e+457')
-y.valueOf()                     // '1.777e+457'
- - - -

Properties

-

The properties of a BigNumber instance:

- - - - - - - - - - - - - - - - - - - - - - - - - -
PropertyDescriptionTypeValue
ccoefficient*number[] Array of base 1e14 numbers
eexponentnumberInteger, -1000000000 to 1000000000 inclusive
ssignnumber-1 or 1
-

*significand

-

- The value of any of the c, e and s properties may also - be null. -

-

- The above properties are best considered to be read-only. In early versions of this library it - was okay to change the exponent of a BigNumber by writing to its exponent property directly, - but this is no longer reliable as the value of the first element of the coefficient array is - now dependent on the exponent. -

-

- Note that, as with JavaScript numbers, the original exponent and fractional trailing zeros are - not necessarily preserved. -

- 
x = new BigNumber(0.123)              // '0.123'
-x.toExponential()                     // '1.23e-1'
-x.c                                   // '1,2,3'
-x.e                                   // -1
-x.s                                   // 1
-
-y = new Number(-123.4567000e+2)       // '-12345.67'
-y.toExponential()                     // '-1.234567e+4'
-z = new BigNumber('-123.4567000e+2')  // '-12345.67'
-z.toExponential()                     // '-1.234567e+4'
-z.c                                   // '1,2,3,4,5,6,7'
-z.e                                   // 4
-z.s                                   // -1
- - - -

Zero, NaN and Infinity

-

- The table below shows how ±0, NaN and - ±Infinity are stored. -

- - - - - - - - - - - - - - - - - - - - - - - - - -
ces
±0[0]0±1
NaNnullnullnull
±Infinitynullnull±1
- 
-x = new Number(-0)              // 0
-1 / x == -Infinity              // true
-
-y = new BigNumber(-0)           // '0'
-y.c                             // '0' ( [0].toString() )
-y.e                             // 0
-y.s                             // -1
- - - -

Errors

-

The table below shows the errors that are thrown.

-

- The errors are generic Error objects whose message begins - '[BigNumber Error]'. -

- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
MethodThrows
- BigNumber
- comparedTo
- dividedBy
- dividedToIntegerBy
- isEqualTo
- isGreaterThan
- isGreaterThanOrEqualTo
- isLessThan
- isLessThanOrEqualTo
- minus
- modulo
- plus
- multipliedBy - 		Base not a primitive number
Base not an integer
Base out of range
Number primitive has more than 15 significant digits*
Not a base... number*
Not a number*
cloneObject expected
configObject expected
DECIMAL_PLACES not a primitive number
DECIMAL_PLACES not an integer
DECIMAL_PLACES out of range
ROUNDING_MODE not a primitive number
ROUNDING_MODE not an integer
ROUNDING_MODE out of range
EXPONENTIAL_AT not a primitive number
EXPONENTIAL_AT not an integer
EXPONENTIAL_AT out of range
RANGE not a primitive number
RANGE not an integer
RANGE cannot be zero
RANGE cannot be zero
CRYPTO not true or false
crypto unavailable
MODULO_MODE not a primitive number
MODULO_MODE not an integer
MODULO_MODE out of range
POW_PRECISION not a primitive number
POW_PRECISION not an integer
POW_PRECISION out of range
FORMAT not an object
ALPHABET invalid
- decimalPlaces
- precision
- random
- shiftedBy
- toExponential
- toFixed
- toFormat
- toPrecision - 		Argument not a primitive number
Argument not an integer
Argument out of range
- decimalPlaces
- precision - 		Argument not true or false
exponentiatedByArgument not an integer
isBigNumberInvalid BigNumber*
- minimum
- maximum - 		Not a number*
- random - crypto unavailable
- toFormat - Argument not an object
toFractionArgument not an integer
Argument out of range
toStringBase not a primitive number
Base not an integer
Base out of range
-

*Only thrown if BigNumber.DEBUG is true.

-

To determine if an exception is a BigNumber Error:

- 
-try {
-  // ...
-} catch (e) {
-  if (e instanceof Error && e.message.indexOf('[BigNumber Error]') === 0) {
-      // ...
-  }
-}
- - - -

Type coercion

-

- To prevent the accidental use of a BigNumber in primitive number operations, or the - accidental addition of a BigNumber to a string, the valueOf method can be safely - overwritten as shown below. -

-

- The valueOf method is the same as the - toJSON method, and both are the same as the - toString method except they do not take a base - argument and they include the minus sign for negative zero. -

- 
-BigNumber.prototype.valueOf = function () {
-  throw Error('valueOf called!')
-}
-
-x = new BigNumber(1)
-x / 2                    // '[BigNumber Error] valueOf called!'
-x + 'abc'                // '[BigNumber Error] valueOf called!'
-
- - - -

FAQ

- -
Why are trailing fractional zeros removed from BigNumbers?
-

- Some arbitrary-precision libraries retain trailing fractional zeros as they can indicate the - precision of a value. This can be useful but the results of arithmetic operations can be - misleading. -

- 
-x = new BigDecimal("1.0")
-y = new BigDecimal("1.1000")
-z = x.add(y)                      // 2.1000
-
-x = new BigDecimal("1.20")
-y = new BigDecimal("3.45000")
-z = x.multiply(y)                 // 4.1400000
-

- To specify the precision of a value is to specify that the value lies - within a certain range. -

-

- In the first example, x has a value of 1.0. The trailing zero shows - the precision of the value, implying that it is in the range 0.95 to - 1.05. Similarly, the precision indicated by the trailing zeros of y - indicates that the value is in the range 1.09995 to 1.10005. -

-

- If we add the two lowest values in the ranges we have, 0.95 + 1.09995 = 2.04995, - and if we add the two highest values we have, 1.05 + 1.10005 = 2.15005, so the - range of the result of the addition implied by the precision of its operands is - 2.04995 to 2.15005. -

-

- The result given by BigDecimal of 2.1000 however, indicates that the value is in - the range 2.09995 to 2.10005 and therefore the precision implied by - its trailing zeros may be misleading. -

-

- In the second example, the true range is 4.122744 to 4.157256 yet - the BigDecimal answer of 4.1400000 indicates a range of 4.13999995 - to 4.14000005. Again, the precision implied by the trailing zeros may be - misleading. -

-

- This library, like binary floating point and most calculators, does not retain trailing - fractional zeros. Instead, the toExponential, toFixed and - toPrecision methods enable trailing zeros to be added if and when required.
-

-
- - - diff --git a/node_modules/bignumber.js/package.json b/node_modules/bignumber.js/package.json deleted file mode 100644 index 3985ba7..0000000 --- a/node_modules/bignumber.js/package.json +++ /dev/null @@ -1,69 +0,0 @@ -{ - "_from": "bignumber.js@9.0.0", - "_id": "bignumber.js@9.0.0", - "_inBundle": false, - "_integrity": "sha512-t/OYhhJ2SD+YGBQcjY8GzzDHEk9f3nerxjtfa6tlMXfe7frs/WozhvCNoGvpM0P3bNf3Gq5ZRMlGr5f3r4/N8A==", - "_location": "/bignumber.js", - "_phantomChildren": {}, - "_requested": { - "type": "version", - "registry": true, - "raw": "bignumber.js@9.0.0", - "name": "bignumber.js", - "escapedName": "bignumber.js", - "rawSpec": "9.0.0", - "saveSpec": null, - "fetchSpec": "9.0.0" - }, - "_requiredBy": [ - "/mysql" - ], - "_resolved": "https://registry.npmjs.org/bignumber.js/-/bignumber.js-9.0.0.tgz", - "_shasum": "805880f84a329b5eac6e7cb6f8274b6d82bdf075", - "_spec": "bignumber.js@9.0.0", - "_where": "/Users/daphnedemekas/Desktop/Rare Diagnostics/RareDiagnosticsAlgorithm/node_modules/mysql", - "author": { - "name": "Michael Mclaughlin", - "email": "M8ch88l@gmail.com" - }, - "browser": "bignumber.js", - "bugs": { - "url": "https://github.com/MikeMcl/bignumber.js/issues" - }, - "bundleDependencies": false, - "dependencies": {}, - "deprecated": false, - "description": "A library for arbitrary-precision decimal and non-decimal arithmetic", - "engines": { - "node": "*" - }, - "homepage": "https://github.com/MikeMcl/bignumber.js#readme", - "keywords": [ - "arbitrary", - "precision", - "arithmetic", - "big", - "number", - "decimal", - "float", - "biginteger", - "bigdecimal", - "bignumber", - "bigint", - "bignum" - ], - "license": "MIT", - "main": "bignumber", - "module": "bignumber.mjs", - "name": "bignumber.js", - "repository": { - "type": "git", - "url": "git+https://github.com/MikeMcl/bignumber.js.git" - }, - "scripts": { - "build": "uglifyjs bignumber.js --source-map -c -m -o bignumber.min.js", - "test": "node test/test" - }, - "types": "bignumber.d.ts", - "version": "9.0.0" -} diff --git a/node_modules/core-util-is/LICENSE b/node_modules/core-util-is/LICENSE deleted file mode 100644 index d8d7f94..0000000 --- a/node_modules/core-util-is/LICENSE +++ /dev/null @@ -1,19 +0,0 @@ -Copyright Node.js contributors. All rights reserved. - -Permission is hereby granted, free of charge, to any person obtaining a copy -of this software and associated documentation files (the "Software"), to -deal in the Software without restriction, including without limitation the -rights to use, copy, modify, merge, publish, distribute, sublicense, and/or -sell copies of the Software, and to permit persons to whom the Software is -furnished to do so, subject to the following conditions: - -The above copyright notice and this permission notice shall be included in -all copies or substantial portions of the Software. - -THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR -IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, -FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE -AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER -LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS -IN THE SOFTWARE. diff --git a/node_modules/core-util-is/README.md b/node_modules/core-util-is/README.md deleted file mode 100644 index 5a76b41..0000000 --- a/node_modules/core-util-is/README.md +++ /dev/null @@ -1,3 +0,0 @@ -# core-util-is - -The `util.is*` functions introduced in Node v0.12. diff --git a/node_modules/core-util-is/float.patch b/node_modules/core-util-is/float.patch deleted file mode 100644 index a06d5c0..0000000 --- a/node_modules/core-util-is/float.patch +++ /dev/null @@ -1,604 +0,0 @@ -diff --git a/lib/util.js b/lib/util.js -index a03e874..9074e8e 100644 ---- a/lib/util.js -+++ b/lib/util.js -@@ -19,430 +19,6 @@ - // OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE - // USE OR OTHER DEALINGS IN THE SOFTWARE. - --var formatRegExp = /%[sdj%]/g; --exports.format = function(f) { -- if (!isString(f)) { -- var objects = []; -- for (var i = 0; i < arguments.length; i++) { -- objects.push(inspect(arguments[i])); -- } -- return objects.join(' '); -- } -- -- var i = 1; -- var args = arguments; -- var len = args.length; -- var str = String(f).replace(formatRegExp, function(x) { -- if (x === '%%') return '%'; -- if (i >= len) return x; -- switch (x) { -- case '%s': return String(args[i++]); -- case '%d': return Number(args[i++]); -- case '%j': -- try { -- return JSON.stringify(args[i++]); -- } catch (_) { -- return '[Circular]'; -- } -- default: -- return x; -- } -- }); -- for (var x = args[i]; i < len; x = args[++i]) { -- if (isNull(x) || !isObject(x)) { -- str += ' ' + x; -- } else { -- str += ' ' + inspect(x); -- } -- } -- return str; --}; -- -- --// Mark that a method should not be used. --// Returns a modified function which warns once by default. --// If --no-deprecation is set, then it is a no-op. --exports.deprecate = function(fn, msg) { -- // Allow for deprecating things in the process of starting up. -- if (isUndefined(global.process)) { -- return function() { -- return exports.deprecate(fn, msg).apply(this, arguments); -- }; -- } -- -- if (process.noDeprecation === true) { -- return fn; -- } -- -- var warned = false; -- function deprecated() { -- if (!warned) { -- if (process.throwDeprecation) { -- throw new Error(msg); -- } else if (process.traceDeprecation) { -- console.trace(msg); -- } else { -- console.error(msg); -- } -- warned = true; -- } -- return fn.apply(this, arguments); -- } -- -- return deprecated; --}; -- -- --var debugs = {}; --var debugEnviron; --exports.debuglog = function(set) { -- if (isUndefined(debugEnviron)) -- debugEnviron = process.env.NODE_DEBUG || ''; -- set = set.toUpperCase(); -- if (!debugs[set]) { -- if (new RegExp('\\b' + set + '\\b', 'i').test(debugEnviron)) { -- var pid = process.pid; -- debugs[set] = function() { -- var msg = exports.format.apply(exports, arguments); -- console.error('%s %d: %s', set, pid, msg); -- }; -- } else { -- debugs[set] = function() {}; -- } -- } -- return debugs[set]; --}; -- -- --/** -- * Echos the value of a value. Trys to print the value out -- * in the best way possible given the different types. -- * -- * @param {Object} obj The object to print out. -- * @param {Object} opts Optional options object that alters the output. -- */ --/* legacy: obj, showHidden, depth, colors*/ --function inspect(obj, opts) { -- // default options -- var ctx = { -- seen: [], -- stylize: stylizeNoColor -- }; -- // legacy... -- if (arguments.length >= 3) ctx.depth = arguments[2]; -- if (arguments.length >= 4) ctx.colors = arguments[3]; -- if (isBoolean(opts)) { -- // legacy... -- ctx.showHidden = opts; -- } else if (opts) { -- // got an "options" object -- exports._extend(ctx, opts); -- } -- // set default options -- if (isUndefined(ctx.showHidden)) ctx.showHidden = false; -- if (isUndefined(ctx.depth)) ctx.depth = 2; -- if (isUndefined(ctx.colors)) ctx.colors = false; -- if (isUndefined(ctx.customInspect)) ctx.customInspect = true; -- if (ctx.colors) ctx.stylize = stylizeWithColor; -- return formatValue(ctx, obj, ctx.depth); --} --exports.inspect = inspect; -- -- --// http://en.wikipedia.org/wiki/ANSI_escape_code#graphics --inspect.colors = { -- 'bold' : [1, 22], -- 'italic' : [3, 23], -- 'underline' : [4, 24], -- 'inverse' : [7, 27], -- 'white' : [37, 39], -- 'grey' : [90, 39], -- 'black' : [30, 39], -- 'blue' : [34, 39], -- 'cyan' : [36, 39], -- 'green' : [32, 39], -- 'magenta' : [35, 39], -- 'red' : [31, 39], -- 'yellow' : [33, 39] --}; -- --// Don't use 'blue' not visible on cmd.exe --inspect.styles = { -- 'special': 'cyan', -- 'number': 'yellow', -- 'boolean': 'yellow', -- 'undefined': 'grey', -- 'null': 'bold', -- 'string': 'green', -- 'date': 'magenta', -- // "name": intentionally not styling -- 'regexp': 'red' --}; -- -- --function stylizeWithColor(str, styleType) { -- var style = inspect.styles[styleType]; -- -- if (style) { -- return '\u001b[' + inspect.colors[style][0] + 'm' + str + -- '\u001b[' + inspect.colors[style][1] + 'm'; -- } else { -- return str; -- } --} -- -- --function stylizeNoColor(str, styleType) { -- return str; --} -- -- --function arrayToHash(array) { -- var hash = {}; -- -- array.forEach(function(val, idx) { -- hash[val] = true; -- }); -- -- return hash; --} -- -- --function formatValue(ctx, value, recurseTimes) { -- // Provide a hook for user-specified inspect functions. -- // Check that value is an object with an inspect function on it -- if (ctx.customInspect && -- value && -- isFunction(value.inspect) && -- // Filter out the util module, it's inspect function is special -- value.inspect !== exports.inspect && -- // Also filter out any prototype objects using the circular check. -- !(value.constructor && value.constructor.prototype === value)) { -- var ret = value.inspect(recurseTimes, ctx); -- if (!isString(ret)) { -- ret = formatValue(ctx, ret, recurseTimes); -- } -- return ret; -- } -- -- // Primitive types cannot have properties -- var primitive = formatPrimitive(ctx, value); -- if (primitive) { -- return primitive; -- } -- -- // Look up the keys of the object. -- var keys = Object.keys(value); -- var visibleKeys = arrayToHash(keys); -- -- if (ctx.showHidden) { -- keys = Object.getOwnPropertyNames(value); -- } -- -- // Some type of object without properties can be shortcutted. -- if (keys.length === 0) { -- if (isFunction(value)) { -- var name = value.name ? ': ' + value.name : ''; -- return ctx.stylize('[Function' + name + ']', 'special'); -- } -- if (isRegExp(value)) { -- return ctx.stylize(RegExp.prototype.toString.call(value), 'regexp'); -- } -- if (isDate(value)) { -- return ctx.stylize(Date.prototype.toString.call(value), 'date'); -- } -- if (isError(value)) { -- return formatError(value); -- } -- } -- -- var base = '', array = false, braces = ['{', '}']; -- -- // Make Array say that they are Array -- if (isArray(value)) { -- array = true; -- braces = ['[', ']']; -- } -- -- // Make functions say that they are functions -- if (isFunction(value)) { -- var n = value.name ? ': ' + value.name : ''; -- base = ' [Function' + n + ']'; -- } -- -- // Make RegExps say that they are RegExps -- if (isRegExp(value)) { -- base = ' ' + RegExp.prototype.toString.call(value); -- } -- -- // Make dates with properties first say the date -- if (isDate(value)) { -- base = ' ' + Date.prototype.toUTCString.call(value); -- } -- -- // Make error with message first say the error -- if (isError(value)) { -- base = ' ' + formatError(value); -- } -- -- if (keys.length === 0 && (!array || value.length == 0)) { -- return braces[0] + base + braces[1]; -- } -- -- if (recurseTimes < 0) { -- if (isRegExp(value)) { -- return ctx.stylize(RegExp.prototype.toString.call(value), 'regexp'); -- } else { -- return ctx.stylize('[Object]', 'special'); -- } -- } -- -- ctx.seen.push(value); -- -- var output; -- if (array) { -- output = formatArray(ctx, value, recurseTimes, visibleKeys, keys); -- } else { -- output = keys.map(function(key) { -- return formatProperty(ctx, value, recurseTimes, visibleKeys, key, array); -- }); -- } -- -- ctx.seen.pop(); -- -- return reduceToSingleString(output, base, braces); --} -- -- --function formatPrimitive(ctx, value) { -- if (isUndefined(value)) -- return ctx.stylize('undefined', 'undefined'); -- if (isString(value)) { -- var simple = '\'' + JSON.stringify(value).replace(/^"|"$/g, '') -- .replace(/'/g, "\\'") -- .replace(/\\"/g, '"') + '\''; -- return ctx.stylize(simple, 'string'); -- } -- if (isNumber(value)) { -- // Format -0 as '-0'. Strict equality won't distinguish 0 from -0, -- // so instead we use the fact that 1 / -0 < 0 whereas 1 / 0 > 0 . -- if (value === 0 && 1 / value < 0) -- return ctx.stylize('-0', 'number'); -- return ctx.stylize('' + value, 'number'); -- } -- if (isBoolean(value)) -- return ctx.stylize('' + value, 'boolean'); -- // For some reason typeof null is "object", so special case here. -- if (isNull(value)) -- return ctx.stylize('null', 'null'); --} -- -- --function formatError(value) { -- return '[' + Error.prototype.toString.call(value) + ']'; --} -- -- --function formatArray(ctx, value, recurseTimes, visibleKeys, keys) { -- var output = []; -- for (var i = 0, l = value.length; i < l; ++i) { -- if (hasOwnProperty(value, String(i))) { -- output.push(formatProperty(ctx, value, recurseTimes, visibleKeys, -- String(i), true)); -- } else { -- output.push(''); -- } -- } -- keys.forEach(function(key) { -- if (!key.match(/^\d+$/)) { -- output.push(formatProperty(ctx, value, recurseTimes, visibleKeys, -- key, true)); -- } -- }); -- return output; --} -- -- --function formatProperty(ctx, value, recurseTimes, visibleKeys, key, array) { -- var name, str, desc; -- desc = Object.getOwnPropertyDescriptor(value, key) || { value: value[key] }; -- if (desc.get) { -- if (desc.set) { -- str = ctx.stylize('[Getter/Setter]', 'special'); -- } else { -- str = ctx.stylize('[Getter]', 'special'); -- } -- } else { -- if (desc.set) { -- str = ctx.stylize('[Setter]', 'special'); -- } -- } -- if (!hasOwnProperty(visibleKeys, key)) { -- name = '[' + key + ']'; -- } -- if (!str) { -- if (ctx.seen.indexOf(desc.value) < 0) { -- if (isNull(recurseTimes)) { -- str = formatValue(ctx, desc.value, null); -- } else { -- str = formatValue(ctx, desc.value, recurseTimes - 1); -- } -- if (str.indexOf('\n') > -1) { -- if (array) { -- str = str.split('\n').map(function(line) { -- return ' ' + line; -- }).join('\n').substr(2); -- } else { -- str = '\n' + str.split('\n').map(function(line) { -- return ' ' + line; -- }).join('\n'); -- } -- } -- } else { -- str = ctx.stylize('[Circular]', 'special'); -- } -- } -- if (isUndefined(name)) { -- if (array && key.match(/^\d+$/)) { -- return str; -- } -- name = JSON.stringify('' + key); -- if (name.match(/^"([a-zA-Z_][a-zA-Z_0-9]*)"$/)) { -- name = name.substr(1, name.length - 2); -- name = ctx.stylize(name, 'name'); -- } else { -- name = name.replace(/'/g, "\\'") -- .replace(/\\"/g, '"') -- .replace(/(^"|"$)/g, "'"); -- name = ctx.stylize(name, 'string'); -- } -- } -- -- return name + ': ' + str; --} -- -- --function reduceToSingleString(output, base, braces) { -- var numLinesEst = 0; -- var length = output.reduce(function(prev, cur) { -- numLinesEst++; -- if (cur.indexOf('\n') >= 0) numLinesEst++; -- return prev + cur.replace(/\u001b\[\d\d?m/g, '').length + 1; -- }, 0); -- -- if (length > 60) { -- return braces[0] + -- (base === '' ? '' : base + '\n ') + -- ' ' + -- output.join(',\n ') + -- ' ' + -- braces[1]; -- } -- -- return braces[0] + base + ' ' + output.join(', ') + ' ' + braces[1]; --} -- -- - // NOTE: These type checking functions intentionally don't use `instanceof` - // because it is fragile and can be easily faked with `Object.create()`. - function isArray(ar) { -@@ -522,166 +98,10 @@ function isPrimitive(arg) { - exports.isPrimitive = isPrimitive; - - function isBuffer(arg) { -- return arg instanceof Buffer; -+ return Buffer.isBuffer(arg); - } - exports.isBuffer = isBuffer; - - function objectToString(o) { - return Object.prototype.toString.call(o); --} -- -- --function pad(n) { -- return n < 10 ? '0' + n.toString(10) : n.toString(10); --} -- -- --var months = ['Jan', 'Feb', 'Mar', 'Apr', 'May', 'Jun', 'Jul', 'Aug', 'Sep', -- 'Oct', 'Nov', 'Dec']; -- --// 26 Feb 16:19:34 --function timestamp() { -- var d = new Date(); -- var time = [pad(d.getHours()), -- pad(d.getMinutes()), -- pad(d.getSeconds())].join(':'); -- return [d.getDate(), months[d.getMonth()], time].join(' '); --} -- -- --// log is just a thin wrapper to console.log that prepends a timestamp --exports.log = function() { -- console.log('%s - %s', timestamp(), exports.format.apply(exports, arguments)); --}; -- -- --/** -- * Inherit the prototype methods from one constructor into another. -- * -- * The Function.prototype.inherits from lang.js rewritten as a standalone -- * function (not on Function.prototype). NOTE: If this file is to be loaded -- * during bootstrapping this function needs to be rewritten using some native -- * functions as prototype setup using normal JavaScript does not work as -- * expected during bootstrapping (see mirror.js in r114903). -- * -- * @param {function} ctor Constructor function which needs to inherit the -- * prototype. -- * @param {function} superCtor Constructor function to inherit prototype from. -- */ --exports.inherits = function(ctor, superCtor) { -- ctor.super_ = superCtor; -- ctor.prototype = Object.create(superCtor.prototype, { -- constructor: { -- value: ctor, -- enumerable: false, -- writable: true, -- configurable: true -- } -- }); --}; -- --exports._extend = function(origin, add) { -- // Don't do anything if add isn't an object -- if (!add || !isObject(add)) return origin; -- -- var keys = Object.keys(add); -- var i = keys.length; -- while (i--) { -- origin[keys[i]] = add[keys[i]]; -- } -- return origin; --}; -- --function hasOwnProperty(obj, prop) { -- return Object.prototype.hasOwnProperty.call(obj, prop); --} -- -- --// Deprecated old stuff. -- --exports.p = exports.deprecate(function() { -- for (var i = 0, len = arguments.length; i < len; ++i) { -- console.error(exports.inspect(arguments[i])); -- } --}, 'util.p: Use console.error() instead'); -- -- --exports.exec = exports.deprecate(function() { -- return require('child_process').exec.apply(this, arguments); --}, 'util.exec is now called `child_process.exec`.'); -- -- --exports.print = exports.deprecate(function() { -- for (var i = 0, len = arguments.length; i < len; ++i) { -- process.stdout.write(String(arguments[i])); -- } --}, 'util.print: Use console.log instead'); -- -- --exports.puts = exports.deprecate(function() { -- for (var i = 0, len = arguments.length; i < len; ++i) { -- process.stdout.write(arguments[i] + '\n'); -- } --}, 'util.puts: Use console.log instead'); -- -- --exports.debug = exports.deprecate(function(x) { -- process.stderr.write('DEBUG: ' + x + '\n'); --}, 'util.debug: Use console.error instead'); -- -- --exports.error = exports.deprecate(function(x) { -- for (var i = 0, len = arguments.length; i < len; ++i) { -- process.stderr.write(arguments[i] + '\n'); -- } --}, 'util.error: Use console.error instead'); -- -- --exports.pump = exports.deprecate(function(readStream, writeStream, callback) { -- var callbackCalled = false; -- -- function call(a, b, c) { -- if (callback && !callbackCalled) { -- callback(a, b, c); -- callbackCalled = true; -- } -- } -- -- readStream.addListener('data', function(chunk) { -- if (writeStream.write(chunk) === false) readStream.pause(); -- }); -- -- writeStream.addListener('drain', function() { -- readStream.resume(); -- }); -- -- readStream.addListener('end', function() { -- writeStream.end(); -- }); -- -- readStream.addListener('close', function() { -- call(); -- }); -- -- readStream.addListener('error', function(err) { -- writeStream.end(); -- call(err); -- }); -- -- writeStream.addListener('error', function(err) { -- readStream.destroy(); -- call(err); -- }); --}, 'util.pump(): Use readableStream.pipe() instead'); -- -- --var uv; --exports._errnoException = function(err, syscall) { -- if (isUndefined(uv)) uv = process.binding('uv'); -- var errname = uv.errname(err); -- var e = new Error(syscall + ' ' + errname); -- e.code = errname; -- e.errno = errname; -- e.syscall = syscall; -- return e; --}; -+} \ No newline at end of file diff --git a/node_modules/core-util-is/lib/util.js b/node_modules/core-util-is/lib/util.js deleted file mode 100644 index ff4c851..0000000 --- a/node_modules/core-util-is/lib/util.js +++ /dev/null @@ -1,107 +0,0 @@ -// Copyright Joyent, Inc. and other Node contributors. -// -// Permission is hereby granted, free of charge, to any person obtaining a -// copy of this software and associated documentation files (the -// "Software"), to deal in the Software without restriction, including -// without limitation the rights to use, copy, modify, merge, publish, -// distribute, sublicense, and/or sell copies of the Software, and to permit -// persons to whom the Software is furnished to do so, subject to the -// following conditions: -// -// The above copyright notice and this permission notice shall be included -// in all copies or substantial portions of the Software. -// -// THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS -// OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF -// MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN -// NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, -// DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR -// OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE -// USE OR OTHER DEALINGS IN THE SOFTWARE. - -// NOTE: These type checking functions intentionally don't use `instanceof` -// because it is fragile and can be easily faked with `Object.create()`. - -function isArray(arg) { - if (Array.isArray) { - return Array.isArray(arg); - } - return objectToString(arg) === '[object Array]'; -} -exports.isArray = isArray; - -function isBoolean(arg) { - return typeof arg === 'boolean'; -} -exports.isBoolean = isBoolean; - -function isNull(arg) { - return arg === null; -} -exports.isNull = isNull; - -function isNullOrUndefined(arg) { - return arg == null; -} -exports.isNullOrUndefined = isNullOrUndefined; - -function isNumber(arg) { - return typeof arg === 'number'; -} -exports.isNumber = isNumber; - -function isString(arg) { - return typeof arg === 'string'; -} -exports.isString = isString; - -function isSymbol(arg) { - return typeof arg === 'symbol'; -} -exports.isSymbol = isSymbol; - -function isUndefined(arg) { - return arg === void 0; -} -exports.isUndefined = isUndefined; - -function isRegExp(re) { - return objectToString(re) === '[object RegExp]'; -} -exports.isRegExp = isRegExp; - -function isObject(arg) { - return typeof arg === 'object' && arg !== null; -} -exports.isObject = isObject; - -function isDate(d) { - return objectToString(d) === '[object Date]'; -} -exports.isDate = isDate; - -function isError(e) { - return (objectToString(e) === '[object Error]' || e instanceof Error); -} -exports.isError = isError; - -function isFunction(arg) { - return typeof arg === 'function'; -} -exports.isFunction = isFunction; - -function isPrimitive(arg) { - return arg === null || - typeof arg === 'boolean' || - typeof arg === 'number' || - typeof arg === 'string' || - typeof arg === 'symbol' || // ES6 symbol - typeof arg === 'undefined'; -} -exports.isPrimitive = isPrimitive; - -exports.isBuffer = Buffer.isBuffer; - -function objectToString(o) { - return Object.prototype.toString.call(o); -} diff --git a/node_modules/core-util-is/package.json b/node_modules/core-util-is/package.json deleted file mode 100644 index bdcec81..0000000 --- a/node_modules/core-util-is/package.json +++ /dev/null @@ -1,62 +0,0 @@ -{ - "_from": "core-util-is@~1.0.0", - "_id": "core-util-is@1.0.2", - "_inBundle": false, - "_integrity": "sha1-tf1UIgqivFq1eqtxQMlAdUUDwac=", - "_location": "/core-util-is", - "_phantomChildren": {}, - "_requested": { - "type": "range", - "registry": true, - "raw": "core-util-is@~1.0.0", - "name": "core-util-is", - "escapedName": "core-util-is", - "rawSpec": "~1.0.0", - "saveSpec": null, - "fetchSpec": "~1.0.0" - }, - "_requiredBy": [ - "/readable-stream" - ], - "_resolved": "https://registry.npmjs.org/core-util-is/-/core-util-is-1.0.2.tgz", - "_shasum": "b5fd54220aa2bc5ab57aab7140c940754503c1a7", - "_spec": "core-util-is@~1.0.0", - "_where": "/Users/daphnedemekas/Desktop/Rare Diagnostics/RareDiagnosticsAlgorithm/node_modules/readable-stream", - "author": { - "name": "Isaac Z. Schlueter", - "email": "i@izs.me", - "url": "http://blog.izs.me/" - }, - "bugs": { - "url": "https://github.com/isaacs/core-util-is/issues" - }, - "bundleDependencies": false, - "deprecated": false, - "description": "The `util.is*` functions introduced in Node v0.12.", - "devDependencies": { - "tap": "^2.3.0" - }, - "homepage": "https://github.com/isaacs/core-util-is#readme", - "keywords": [ - "util", - "isBuffer", - "isArray", - "isNumber", - "isString", - "isRegExp", - "isThis", - "isThat", - "polyfill" - ], - "license": "MIT", - "main": "lib/util.js", - "name": "core-util-is", - "repository": { - "type": "git", - "url": "git://github.com/isaacs/core-util-is.git" - }, - "scripts": { - "test": "tap test.js" - }, - "version": "1.0.2" -} diff --git a/node_modules/core-util-is/test.js b/node_modules/core-util-is/test.js deleted file mode 100644 index 1a490c6..0000000 --- a/node_modules/core-util-is/test.js +++ /dev/null @@ -1,68 +0,0 @@ -var assert = require('tap'); - -var t = require('./lib/util'); - -assert.equal(t.isArray([]), true); -assert.equal(t.isArray({}), false); - -assert.equal(t.isBoolean(null), false); -assert.equal(t.isBoolean(true), true); -assert.equal(t.isBoolean(false), true); - -assert.equal(t.isNull(null), true); -assert.equal(t.isNull(undefined), false); -assert.equal(t.isNull(false), false); -assert.equal(t.isNull(), false); - -assert.equal(t.isNullOrUndefined(null), true); -assert.equal(t.isNullOrUndefined(undefined), true); -assert.equal(t.isNullOrUndefined(false), false); -assert.equal(t.isNullOrUndefined(), true); - -assert.equal(t.isNumber(null), false); -assert.equal(t.isNumber('1'), false); -assert.equal(t.isNumber(1), true); - -assert.equal(t.isString(null), false); -assert.equal(t.isString('1'), true); -assert.equal(t.isString(1), false); - -assert.equal(t.isSymbol(null), false); -assert.equal(t.isSymbol('1'), false); -assert.equal(t.isSymbol(1), false); -assert.equal(t.isSymbol(Symbol()), true); - -assert.equal(t.isUndefined(null), false); -assert.equal(t.isUndefined(undefined), true); -assert.equal(t.isUndefined(false), false); -assert.equal(t.isUndefined(), true); - -assert.equal(t.isRegExp(null), false); -assert.equal(t.isRegExp('1'), false); -assert.equal(t.isRegExp(new RegExp()), true); - -assert.equal(t.isObject({}), true); -assert.equal(t.isObject([]), true); -assert.equal(t.isObject(new RegExp()), true); -assert.equal(t.isObject(new Date()), true); - -assert.equal(t.isDate(null), false); -assert.equal(t.isDate('1'), false); -assert.equal(t.isDate(new Date()), true); - -assert.equal(t.isError(null), false); -assert.equal(t.isError({ err: true }), false); -assert.equal(t.isError(new Error()), true); - -assert.equal(t.isFunction(null), false); -assert.equal(t.isFunction({ }), false); -assert.equal(t.isFunction(function() {}), true); - -assert.equal(t.isPrimitive(null), true); -assert.equal(t.isPrimitive(''), true); -assert.equal(t.isPrimitive(0), true); -assert.equal(t.isPrimitive(new Date()), false); - -assert.equal(t.isBuffer(null), false); -assert.equal(t.isBuffer({}), false); -assert.equal(t.isBuffer(new Buffer(0)), true); diff --git a/node_modules/db_connection/package.json b/node_modules/db_connection/package.json deleted file mode 100644 index 9a55f19..0000000 --- a/node_modules/db_connection/package.json +++ /dev/null @@ -1,39 +0,0 @@ -{ - "_from": "db_connection", - "_id": "db_connection@1.0.0", - "_inBundle": false, - "_integrity": "sha512-p45+ueF8dkDgDoi2ByrY2Yyi43Z5BHKDXSqDzplkDwJAkThKt1o9PstUfAGW6GiinzBVGQ0DGBufGaEwkjGXjA==", - "_location": "/db_connection", - "_phantomChildren": {}, - "_requested": { - "type": "tag", - "registry": true, - "raw": "db_connection", - "name": "db_connection", - "escapedName": "db_connection", - "rawSpec": "", - "saveSpec": null, - "fetchSpec": "latest" - }, - "_requiredBy": [ - "#USER", - "/" - ], - "_resolved": "https://registry.npmjs.org/db_connection/-/db_connection-1.0.0.tgz", - "_shasum": "162c11e1ee1e02302af6e03e56c763ab706a81f1", - "_spec": "db_connection", - "_where": "/Users/daphnedemekas/Desktop/Rare Diagnostics/RareDiagnosticsAlgorithm", - "author": { - "name": "SRIKKANTH SREERAM" - }, - "bundleDependencies": false, - "deprecated": false, - "description": "This is a private package for db connection to the hsblox database used by various applications", - "license": "ISC", - "main": "index.js", - "name": "db_connection", - "scripts": { - "test": "echo \"Error: no test specified\" && exit 1" - }, - "version": "1.0.0" -} diff --git a/node_modules/db_connection/test.js b/node_modules/db_connection/test.js deleted file mode 100644 index efe6280..0000000 --- a/node_modules/db_connection/test.js +++ /dev/null @@ -1,3 +0,0 @@ -exports.printMsg = function() { - console.log("This is a message from the demo package"); -} \ No newline at end of file diff --git a/node_modules/inherits/LICENSE b/node_modules/inherits/LICENSE deleted file mode 100644 index dea3013..0000000 --- a/node_modules/inherits/LICENSE +++ /dev/null @@ -1,16 +0,0 @@ -The ISC License - -Copyright (c) Isaac Z. Schlueter - -Permission to use, copy, modify, and/or distribute this software for any -purpose with or without fee is hereby granted, provided that the above -copyright notice and this permission notice appear in all copies. - -THE SOFTWARE IS PROVIDED "AS IS" AND THE AUTHOR DISCLAIMS ALL WARRANTIES WITH -REGARD TO THIS SOFTWARE INCLUDING ALL IMPLIED WARRANTIES OF MERCHANTABILITY AND -FITNESS. IN NO EVENT SHALL THE AUTHOR BE LIABLE FOR ANY SPECIAL, DIRECT, -INDIRECT, OR CONSEQUENTIAL DAMAGES OR ANY DAMAGES WHATSOEVER RESULTING FROM -LOSS OF USE, DATA OR PROFITS, WHETHER IN AN ACTION OF CONTRACT, NEGLIGENCE OR -OTHER TORTIOUS ACTION, ARISING OUT OF OR IN CONNECTION WITH THE USE OR -PERFORMANCE OF THIS SOFTWARE. - diff --git a/node_modules/inherits/README.md b/node_modules/inherits/README.md deleted file mode 100644 index b1c5665..0000000 --- a/node_modules/inherits/README.md +++ /dev/null @@ -1,42 +0,0 @@ -Browser-friendly inheritance fully compatible with standard node.js -[inherits](http://nodejs.org/api/util.html#util_util_inherits_constructor_superconstructor). - -This package exports standard `inherits` from node.js `util` module in -node environment, but also provides alternative browser-friendly -implementation through [browser -field](https://gist.github.com/shtylman/4339901). Alternative -implementation is a literal copy of standard one located in standalone -module to avoid requiring of `util`. It also has a shim for old -browsers with no `Object.create` support. - -While keeping you sure you are using standard `inherits` -implementation in node.js environment, it allows bundlers such as -[browserify](https://github.com/substack/node-browserify) to not -include full `util` package to your client code if all you need is -just `inherits` function. It worth, because browser shim for `util` -package is large and `inherits` is often the single function you need -from it. - -It's recommended to use this package instead of -`require('util').inherits` for any code that has chances to be used -not only in node.js but in browser too. - -## usage - -```js -var inherits = require('inherits'); -// then use exactly as the standard one -``` - -## note on version ~1.0 - -Version ~1.0 had completely different motivation and is not compatible -neither with 2.0 nor with standard node.js `inherits`. - -If you are using version ~1.0 and planning to switch to ~2.0, be -careful: - -* new version uses `super_` instead of `super` for referencing - superclass -* new version overwrites current prototype while old one preserves any - existing fields on it diff --git a/node_modules/inherits/inherits.js b/node_modules/inherits/inherits.js deleted file mode 100644 index f71f2d9..0000000 --- a/node_modules/inherits/inherits.js +++ /dev/null @@ -1,9 +0,0 @@ -try { - var util = require('util'); - /* istanbul ignore next */ - if (typeof util.inherits !== 'function') throw ''; - module.exports = util.inherits; -} catch (e) { - /* istanbul ignore next */ - module.exports = require('./inherits_browser.js'); -} diff --git a/node_modules/inherits/inherits_browser.js b/node_modules/inherits/inherits_browser.js deleted file mode 100644 index 86bbb3d..0000000 --- a/node_modules/inherits/inherits_browser.js +++ /dev/null @@ -1,27 +0,0 @@ -if (typeof Object.create === 'function') { - // implementation from standard node.js 'util' module - module.exports = function inherits(ctor, superCtor) { - if (superCtor) { - ctor.super_ = superCtor - ctor.prototype = Object.create(superCtor.prototype, { - constructor: { - value: ctor, - enumerable: false, - writable: true, - configurable: true - } - }) - } - }; -} else { - // old school shim for old browsers - module.exports = function inherits(ctor, superCtor) { - if (superCtor) { - ctor.super_ = superCtor - var TempCtor = function () {} - TempCtor.prototype = superCtor.prototype - ctor.prototype = new TempCtor() - ctor.prototype.constructor = ctor - } - } -} diff --git a/node_modules/inherits/package.json b/node_modules/inherits/package.json deleted file mode 100644 index 1d70e77..0000000 --- a/node_modules/inherits/package.json +++ /dev/null @@ -1,61 +0,0 @@ -{ - "_from": "inherits@~2.0.3", - "_id": "inherits@2.0.4", - "_inBundle": false, - "_integrity": "sha512-k/vGaX4/Yla3WzyMCvTQOXYeIHvqOKtnqBduzTHpzpQZzAskKMhZ2K+EnBiSM9zGSoIFeMpXKxa4dYeZIQqewQ==", - "_location": "/inherits", - "_phantomChildren": {}, - "_requested": { - "type": "range", - "registry": true, - "raw": "inherits@~2.0.3", - "name": "inherits", - "escapedName": "inherits", - "rawSpec": "~2.0.3", - "saveSpec": null, - "fetchSpec": "~2.0.3" - }, - "_requiredBy": [ - "/readable-stream" - ], - "_resolved": "https://registry.npmjs.org/inherits/-/inherits-2.0.4.tgz", - "_shasum": "0fa2c64f932917c3433a0ded55363aae37416b7c", - "_spec": "inherits@~2.0.3", - "_where": "/Users/daphnedemekas/Desktop/Rare Diagnostics/RareDiagnosticsAlgorithm/node_modules/readable-stream", - "browser": "./inherits_browser.js", - "bugs": { - "url": "https://github.com/isaacs/inherits/issues" - }, - "bundleDependencies": false, - "deprecated": false, - "description": "Browser-friendly inheritance fully compatible with standard node.js inherits()", - "devDependencies": { - "tap": "^14.2.4" - }, - "files": [ - "inherits.js", - "inherits_browser.js" - ], - "homepage": "https://github.com/isaacs/inherits#readme", - "keywords": [ - "inheritance", - "class", - "klass", - "oop", - "object-oriented", - "inherits", - "browser", - "browserify" - ], - "license": "ISC", - "main": "./inherits.js", - "name": "inherits", - "repository": { - "type": "git", - "url": "git://github.com/isaacs/inherits.git" - }, - "scripts": { - "test": "tap" - }, - "version": "2.0.4" -} diff --git a/node_modules/isarray/.npmignore b/node_modules/isarray/.npmignore deleted file mode 100644 index 3c3629e..0000000 --- a/node_modules/isarray/.npmignore +++ /dev/null @@ -1 +0,0 @@ -node_modules diff --git a/node_modules/isarray/.travis.yml b/node_modules/isarray/.travis.yml deleted file mode 100644 index cc4dba2..0000000 --- a/node_modules/isarray/.travis.yml +++ /dev/null @@ -1,4 +0,0 @@ -language: node_js -node_js: - - "0.8" - - "0.10" diff --git a/node_modules/isarray/Makefile b/node_modules/isarray/Makefile deleted file mode 100644 index 787d56e..0000000 --- a/node_modules/isarray/Makefile +++ /dev/null @@ -1,6 +0,0 @@ - -test: - @node_modules/.bin/tape test.js - -.PHONY: test - diff --git a/node_modules/isarray/README.md b/node_modules/isarray/README.md deleted file mode 100644 index 16d2c59..0000000 --- a/node_modules/isarray/README.md +++ /dev/null @@ -1,60 +0,0 @@ - -# isarray - -`Array#isArray` for older browsers. - -[![build status](https://secure.travis-ci.org/juliangruber/isarray.svg)](http://travis-ci.org/juliangruber/isarray) -[![downloads](https://img.shields.io/npm/dm/isarray.svg)](https://www.npmjs.org/package/isarray) - -[![browser support](https://ci.testling.com/juliangruber/isarray.png) -](https://ci.testling.com/juliangruber/isarray) - -## Usage - -```js -var isArray = require('isarray'); - -console.log(isArray([])); // => true -console.log(isArray({})); // => false -``` - -## Installation - -With [npm](http://npmjs.org) do - -```bash -$ npm install isarray -``` - -Then bundle for the browser with -[browserify](https://github.com/substack/browserify). - -With [component](http://component.io) do - -```bash -$ component install juliangruber/isarray -``` - -## License - -(MIT) - -Copyright (c) 2013 Julian Gruber <julian@juliangruber.com> - -Permission is hereby granted, free of charge, to any person obtaining a copy of -this software and associated documentation files (the "Software"), to deal in -the Software without restriction, including without limitation the rights to -use, copy, modify, merge, publish, distribute, sublicense, and/or sell copies -of the Software, and to permit persons to whom the Software is furnished to do -so, subject to the following conditions: - -The above copyright notice and this permission notice shall be included in all -copies or substantial portions of the Software. - -THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR -IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, -FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE -AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER -LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, -OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE -SOFTWARE. diff --git a/node_modules/isarray/component.json b/node_modules/isarray/component.json deleted file mode 100644 index 9e31b68..0000000 --- a/node_modules/isarray/component.json +++ /dev/null @@ -1,19 +0,0 @@ -{ - "name" : "isarray", - "description" : "Array#isArray for older browsers", - "version" : "0.0.1", - "repository" : "juliangruber/isarray", - "homepage": "https://github.com/juliangruber/isarray", - "main" : "index.js", - "scripts" : [ - "index.js" - ], - "dependencies" : {}, - "keywords": ["browser","isarray","array"], - "author": { - "name": "Julian Gruber", - "email": "mail@juliangruber.com", - "url": "http://juliangruber.com" - }, - "license": "MIT" -} diff --git a/node_modules/isarray/index.js b/node_modules/isarray/index.js deleted file mode 100644 index a57f634..0000000 --- a/node_modules/isarray/index.js +++ /dev/null @@ -1,5 +0,0 @@ -var toString = {}.toString; - -module.exports = Array.isArray || function (arr) { - return toString.call(arr) == '[object Array]'; -}; diff --git a/node_modules/isarray/package.json b/node_modules/isarray/package.json deleted file mode 100644 index b95b715..0000000 --- a/node_modules/isarray/package.json +++ /dev/null @@ -1,73 +0,0 @@ -{ - "_from": "isarray@~1.0.0", - "_id": "isarray@1.0.0", - "_inBundle": false, - "_integrity": "sha1-u5NdSFgsuhaMBoNJV6VKPgcSTxE=", - "_location": "/isarray", - "_phantomChildren": {}, - "_requested": { - "type": "range", - "registry": true, - "raw": "isarray@~1.0.0", - "name": "isarray", - "escapedName": "isarray", - "rawSpec": "~1.0.0", - "saveSpec": null, - "fetchSpec": "~1.0.0" - }, - "_requiredBy": [ - "/readable-stream" - ], - "_resolved": "https://registry.npmjs.org/isarray/-/isarray-1.0.0.tgz", - "_shasum": "bb935d48582cba168c06834957a54a3e07124f11", - "_spec": "isarray@~1.0.0", - "_where": "/Users/daphnedemekas/Desktop/Rare Diagnostics/RareDiagnosticsAlgorithm/node_modules/readable-stream", - "author": { - "name": "Julian Gruber", - "email": "mail@juliangruber.com", - "url": "http://juliangruber.com" - }, - "bugs": { - "url": "https://github.com/juliangruber/isarray/issues" - }, - "bundleDependencies": false, - "dependencies": {}, - "deprecated": false, - "description": "Array#isArray for older browsers", - "devDependencies": { - "tape": "~2.13.4" - }, - "homepage": "https://github.com/juliangruber/isarray", - "keywords": [ - "browser", - "isarray", - "array" - ], - "license": "MIT", - "main": "index.js", - "name": "isarray", - "repository": { - "type": "git", - "url": "git://github.com/juliangruber/isarray.git" - }, - "scripts": { - "test": "tape test.js" - }, - "testling": { - "files": "test.js", - "browsers": [ - "ie/8..latest", - "firefox/17..latest", - "firefox/nightly", - "chrome/22..latest", - "chrome/canary", - "opera/12..latest", - "opera/next", - "safari/5.1..latest", - "ipad/6.0..latest", - "iphone/6.0..latest", - "android-browser/4.2..latest" - ] - }, - "version": "1.0.0" -} diff --git a/node_modules/isarray/test.js b/node_modules/isarray/test.js deleted file mode 100644 index e0c3444..0000000 --- a/node_modules/isarray/test.js +++ /dev/null @@ -1,20 +0,0 @@ -var isArray = require('./'); -var test = require('tape'); - -test('is array', function(t){ - t.ok(isArray([])); - t.notOk(isArray({})); - t.notOk(isArray(null)); - t.notOk(isArray(false)); - - var obj = {}; - obj[0] = true; - t.notOk(isArray(obj)); - - var arr = []; - arr.foo = 'bar'; - t.ok(isArray(arr)); - - t.end(); -}); - diff --git a/node_modules/mysql/Changes.md b/node_modules/mysql/Changes.md deleted file mode 100644 index 73e549c..0000000 --- a/node_modules/mysql/Changes.md +++ /dev/null @@ -1,569 +0,0 @@ -# Changes - -This file is a manually maintained list of changes for each release. Feel free -to add your changes here when sending pull requests. Also send corrections if -you spot any mistakes. - -## v2.18.1 (2020-01-23) - -* Fix Amazon RDS profile for yaSSL MySQL servers with 2019 CA #2292 - -## v2.18.0 (2020-01-21) - -* Add `localInfile` option to control `LOAD DATA LOCAL INFILE` -* Add new Amazon RDS Root 2019 CA to Amazon RDS SSL profile #2280 -* Add new error codes up to MySQL 5.7.29 -* Fix early detection of bad callback to `connection.query` -* Support Node.js 12.x #2211 -* Support Node.js 13.x -* Support non-enumerable properties in object argument to `connection.query` #2253 -* Update `bignumber.js` to 9.0.0 -* Update `readable-stream` to 2.3.7 - -## v2.17.1 (2019-04-18) - -* Update `bignumber.js` to 7.2.1 #2206 - - Fix npm deprecation warning - -## v2.17.0 (2019-04-17) - -* Add reverse type lookup for small performance gain #2170 -* Fix `connection.threadId` missing on handshake failure -* Fix duplicate packet name in debug output -* Fix no password support for old password protocol -* Remove special case for handshake in determine packet code -* Small performance improvement starting command sequence -* Support auth switch in change user flow #1776 -* Support Node.js 11.x -* Update `bignumber.js` to 6.0.0 - -## v2.16.0 (2018-07-17) - -* Add Amazon RDS GovCloud SSL certificates #1876 -* Add new error codes up to MySQL 5.7.21 -* Include connection ID in debug output -* Support Node.js 9.x -* Support Node.js 10.x #2003 #2024 #2026 #2034 -* Update Amazon RDS SSL certificates -* Update `bignumber.js` to 4.1.0 -* Update `readable-stream` to 2.3.6 -* Update `sqlstring` to 2.3.1 - - Fix incorrectly replacing non-placeholders in SQL - -## v2.15.0 (2017-10-05) - -* Add new Amazon RDS ca-central-1 certificate CA to Amazon RDS SSL profile #1809 -* Add new error codes up to MySQL 5.7.19 -* Add `mysql.raw()` to generate pre-escaped values #877 #1821 -* Fix "changedRows" to work on non-English servers #1819 -* Fix error when server sends RST on `QUIT` #1811 -* Fix typo in insecure auth error message -* Support `mysql_native_password` auth switch request for Azure #1396 #1729 #1730 -* Update `sqlstring` to 2.3.0 - - Add `.toSqlString()` escape overriding - - Small performance improvement on `escapeId` -* Update `bignumber.js` to 4.0.4 - -## v2.14.1 (2017-08-01) - -* Fix holding first closure for lifetime of connection #1785 - -## v2.14.0 (2017-07-25) - -* Add new Amazon RDS ap-south-1 certificate CA to Amazon RDS SSL profile #1780 -* Add new Amazon RDS eu-west-2 certificate CA to Amazon RDS SSL profile #1770 -* Add `sql` property to query `Error` objects #1462 #1628 #1629 -* Add `sqlMessage` property to `Error` objects #1714 -* Fix the MySQL 5.7.17 error codes -* Support Node.js 8.x -* Update `bignumber.js` to 4.0.2 -* Update `readable-stream` to 2.3.3 -* Use `safe-buffer` for improved Buffer API - -## v2.13.0 (2017-01-24) - -* Accept regular expression as pool cluster pattern #1572 -* Accept wildcard anywhere in pool cluster pattern #1570 -* Add `acquire` and `release` events to `Pool` for tracking #1366 #1449 #1528 #1625 -* Add new error codes up to MySQL 5.7.17 -* Fix edge cases when determing Query result packets #1547 -* Fix memory leak when using long-running domains #1619 #1620 -* Remove unnecessary buffer copies when receiving large packets -* Update `bignumber.js` to 3.1.2 -* Use a simple buffer list to improve performance #566 #1590 - -## v2.12.0 (2016-11-02) - -* Accept array of type names to `dateStrings` option #605 #1481 -* Add `query` method to `PoolNamespace` #1256 #1505 #1506 - - Used as `cluster.of(...).query(...)` -* Add new error codes up to MySQL 5.7.16 -* Fix edge cases writing certain length coded values -* Fix typo in `HANDSHAKE_NO_SSL_SUPPORT` error message #1534 -* Support Node.js 7.x -* Update `bignumber.js` to 2.4.0 -* Update `sqlstring` to 2.2.0 - - Accept numbers and other value types in `escapeId` - - Escape invalid `Date` objects as `NULL` - - Run `buffer.toString()` through escaping - -## v2.11.1 (2016-06-07) - -* Fix writing truncated packets starting with large string/buffer #1438 - -## v2.11.0 (2016-06-06) - -* Add `POOL_CLOSED` code to "Pool is closed." error -* Add `POOL_CONNLIMIT` code to "No connections available." error #1332 -* Bind underlying connections in pool to same domain as pool #1242 -* Bind underlying socket to same domain as connection #1243 -* Fix allocation errors receiving many result rows #918 #1265 #1324 #1415 -* Fix edge cases constructing long stack traces #1387 -* Fix handshake inactivity timeout on Node.js v4.2.0 #1223 #1236 #1239 #1240 #1241 #1252 -* Fix Query stream to emit close after ending #1349 #1350 -* Fix type cast for BIGINT columns when number is negative #1376 -* Performance improvements for array/object escaping in SqlString #1331 -* Performance improvements for formatting in SqlString #1431 -* Performance improvements for string escaping in SqlString #1390 -* Performance improvements for writing packets to network -* Support Node.js 6.x -* Update `bignumber.js` to 2.3.0 -* Update `readable-stream` to 1.1.14 -* Use the `sqlstring` module for SQL escaping and formatting - -## v2.10.2 (2016-01-12) - -* Fix exception/hang from certain SSL connection errors #1153 -* Update `bignumber.js` to 2.1.4 - -## v2.10.1 (2016-01-11) - -* Add new Amazon RDS ap-northeast-2 certificate CA to Amazon RDS SSL profile #1329 - -## v2.10.0 (2015-12-15) - -* Add new error codes up to MySQL 5.7.9 #1294 -* Add new JSON type constant #1295 -* Add types for fractional seconds support -* Fix `connection.destroy()` on pool connection creating sequences #1291 -* Fix error code 139 `HA_ERR_TO_BIG_ROW` to be `HA_ERR_TOO_BIG_ROW` -* Fix error when call site error is missing stack #1179 -* Fix reading password from MySQL URL that has bare colon #1278 -* Handle MySQL servers not closing TCP connection after QUIT -> OK exchange #1277 -* Minor SqlString Date to string performance improvement #1233 -* Support Node.js 4.x -* Support Node.js 5.x -* Update `bignumber.js` to 2.1.2 - -## v2.9.0 (2015-08-19) - -* Accept the `ciphers` property in connection `ssl` option #1185 -* Fix bad timezone conversion from `Date` to string for certain times #1045 #1155 - -## v2.8.0 (2015-07-13) - -* Add `connect` event to `Connection` #1129 -* Default `timeout` for `connection.end` to 30 seconds #1057 -* Fix a sync callback when sequence enqueue fails #1147 -* Provide static require analysis -* Re-use connection from pool after `conn.changeUser` is used #837 #1088 - -## v2.7.0 (2015-05-27) - -* Destroy/end connections removed from the pool on error -* Delay implied connect until after `.query` argument validation -* Do not remove connections with non-fatal errors from the pool -* Error early if `callback` argument to `.query` is not a function #1060 -* Lazy-load modules from many entry point; reduced memory use - -## v2.6.2 (2015-04-14) - -* Fix `Connection.createQuery` for no SQL #1058 -* Update `bignumber.js` to 2.0.7 - -## v2.6.1 (2015-03-26) - -* Update `bignumber.js` to 2.0.5 #1037 #1038 - -## v2.6.0 (2015-03-24) - -* Add `poolCluster.remove` to remove pools from the cluster #1006 #1007 -* Add optional callback to `poolCluster.end` -* Add `restoreNodeTimeout` option to `PoolCluster` #880 #906 -* Fix LOAD DATA INFILE handling in multiple statements #1036 -* Fix `poolCluster.add` to throw if `PoolCluster` has been closed -* Fix `poolCluster.add` to throw if `id` already defined -* Fix un-catchable error from `PoolCluster` when MySQL server offline #1033 -* Improve speed formatting SQL #1019 -* Support io.js - -## v2.5.5 (2015-02-23) - -* Store SSL presets in JS instead of JSON #959 -* Support Node.js 0.12 -* Update Amazon RDS SSL certificates #1001 - -## v2.5.4 (2014-12-16) - -* Fix error if falsy error thrown in callback handler #960 -* Fix various error code strings #954 - -## v2.5.3 (2014-11-06) - -* Fix `pool.query` streaming interface not emitting connection errors #941 - -## v2.5.2 (2014-10-10) - -* Fix receiving large text fields #922 - -## v2.5.1 (2014-09-22) - -* Fix `pool.end` race conditions #915 -* Fix `pool.getConnection` race conditions - -## v2.5.0 (2014-09-07) - -* Add code `POOL_ENQUEUELIMIT` to error reaching `queueLimit` -* Add `enqueue` event to pool #716 -* Add `enqueue` event to protocol and connection #381 -* Blacklist unsupported connection flags #881 -* Make only column names enumerable in `RowDataPacket` #549 #895 -* Support Node.js 0.6 #718 - -## v2.4.3 (2014-08-25) - -* Fix `pool.query` to use `typeCast` configuration - -## v2.4.2 (2014-08-03) - -* Fix incorrect sequence packet errors to be catchable #867 -* Fix stray protocol packet errors to be catchable #867 -* Fix timing of fatal protocol errors bubbling to user #879 - -## v2.4.1 (2014-07-17) - -* Fix `pool.query` not invoking callback on connection error #872 - -## v2.4.0 (2014-07-13) - -* Add code `POOL_NOEXIST` in PoolCluster error #846 -* Add `acquireTimeout` pool option to specify a timeout for acquiring a connection #821 #854 -* Add `connection.escapeId` -* Add `pool.escapeId` -* Add `timeout` option to all sequences #855 #863 -* Default `connectTimeout` to 10 seconds -* Fix domain binding with `conn.connect` -* Fix `packet.default` to actually be a string -* Fix `PARSER_*` errors to be catchable -* Fix `PROTOCOL_PACKETS_OUT_OF_ORDER` error to be catchable #844 -* Include packets that failed parsing under `debug` -* Return `Query` object from `pool.query` like `conn.query` #830 -* Use `EventEmitter.listenerCount` when possible for faster counting - -## v2.3.2 (2014-05-29) - -* Fix pool leaking connections after `conn.changeUser` #833 - -## v2.3.1 (2014-05-26) - -* Add database errors to error constants -* Add global errors to error constants -* Throw when calling `conn.release` multiple times #824 #827 -* Update known error codes - -## v2.3.0 (2014-05-16) - -* Accept MySQL charset (like `UTF8` or `UTF8MB4`) in `charset` option #808 -* Accept pool options in connection string to `mysql.createPool` #811 -* Clone connection config for new pool connections -* Default `connectTimeout` to 2 minutes -* Reject unauthorized SSL connections (use `ssl.rejectUnauthorized` to override) #816 -* Return last error when PoolCluster exhausts connection retries #818 -* Remove connection from pool after `conn.changeUser` is released #806 -* Throw on unknown SSL profile name #817 -* User newer TLS functions when available #809 - -## v2.2.0 (2014-04-27) - -* Use indexOf instead of for loops removing conn from pool #611 -* Make callback to `pool.query` optional like `conn.query` #585 -* Prevent enqueuing sequences after fatal error #400 -* Fix geometry parser for empty fields #742 -* Accept lower-case charset option -* Throw on unknown charset option #789 -* Update known charsets -* Remove console.warn from PoolCluster #744 -* Fix `pool.end` to handle queued connections #797 -* Fix `pool.releaseConnection` to keep connection queue flowing #797 -* Fix SSL handshake error to be catchable #800 -* Add `connection.threadId` to get MySQL connection ID #602 -* Ensure `pool.getConnection` retrieves good connections #434 #557 #778 -* Fix pool cluster wildcard matching #627 -* Pass query values through to `SqlString.format` #590 - -## v2.1.1 (2014-03-13) - -* fix authentication w/password failure for node.js 0.10.5 #746 #752 -* fix authentication w/password TypeError exception for node.js 0.10.0-0.10.4 #747 -* fix specifying `values` in `conn.query({...}).on(...)` pattern #755 -* fix long stack trace to include the `pool.query(...)` call #715 - -## v2.1.0 (2014-02-20) - -* crypto.createHash fix for node.js < 11 #735 -* Add `connectTimeout` option to specify a timeout for establishing a connection #726 -* SSL support #481 - -## v2.0.1 - -* internal parser speed improvement #702 -* domains support -* 'trace' connection option to control if long stack traces are generated #713 #710 #439 - -## v2.0.0 (2014-01-09) - -* stream improvements: - - node 0.8 support #692 - - Emit 'close' events from query streams #688 -* encoding fix in streaming LOAD DATA LOCAL INFILE #670 -* Doc improvements - -## v2.0.0-rc2 (2013-12-07) - -* Streaming LOAD DATA LOCAL INFILE #668 -* Doc improvements - -## v2.0.0-rc1 (2013-11-30) - -* Transaction support -* Expose SqlString.format as mysql.format() -* Many bug fixes -* Better support for dates in local time zone -* Doc improvements - -## v2.0.0-alpha9 (2013-08-27) - -* Add query to pool to execute queries directly using the pool -* Add `sqlState` property to `Error` objects #556 -* Pool option to set queue limit -* Pool sends 'connection' event when it opens a new connection -* Added stringifyObjects option to treat input as strings rather than objects (#501) -* Support for poolClusters -* Datetime improvements -* Bug fixes - -## v2.0.0-alpha8 (2013-04-30) - -* Switch to old mode for Streams 2 (Node.js v 0.10.x) -* Add stream method to Query Wraps events from the query object into a node v0.10.x Readable stream -* DECIMAL should also be treated as big number -* Removed slow unnecessary stack access -* Added charsets -* Added bigNumberStrings option for forcing BIGINT columns as strings -* Changes date parsing to return String if not a valid JS Date -* Adds support for ?? escape sequence to escape identifiers -* Changes Auth.token() to force password to be in binary, not utf8 (#378) -* Restrict debugging by packet types -* Add 'multipleStatements' option tracking to ConnectionConfig. Fixes GH-408 -* Changes Pool to handle 'error' events and dispose connection -* Allows db.query({ sql: "..." }, [ val1, ... ], cb); (#390) -* Improved documentation -* Bug fixes - -## v2.0.0-alpha7 (2013-02-03) - -* Add connection pooling (#351) - -## v2.0.0-alpha6 (2013-01-31) - -* Add supportBigNumbers option (#381, #382) -* Accept prebuilt Query object in connection.query -* Bug fixes - -## v2.0.0-alpha5 (2012-12-03) - -* Add mysql.escapeId to escape identifiers (closes #342) -* Allow custom escaping mode (config.queryFormat) -* Convert DATE columns to configured timezone instead of UTC (#332) -* Convert LONGLONG and NEWDECIMAL to numbers (#333) -* Fix Connection.escape() (fixes #330) -* Changed Readme ambiguity about custom type cast fallback -* Change typeCast to receive Connection instead of Connection.config.timezone -* Fix drain event having useless err parameter -* Add Connection.statistics() back from v0.9 -* Add Connection.ping() back from v0.9 - -## v2.0.0-alpha4 (2012-10-03) - -* Fix some OOB errors on resume() -* Fix quick pause() / resume() usage -* Properly parse host denied / similar errors -* Add Connection.ChangeUser functionality -* Make sure changeUser errors are fatal -* Enable formatting nested arrays for bulk inserts -* Add Connection.escape functionality -* Renamed 'close' to 'end' event -* Return parsed object instead of Buffer for GEOMETRY types -* Allow nestTables inline (using a string instead of a boolean) -* Check for ZEROFILL_FLAG and format number accordingly -* Add timezone support (default: local) -* Add custom typeCast functionality -* Export mysql column types -* Add connection flags functionality (#237) -* Exports drain event when queue finishes processing (#272, #271, #306) - -## v2.0.0-alpha3 (2012-06-12) - -* Implement support for `LOAD DATA LOCAL INFILE` queries (#182). -* Support OLD\_PASSWORD() accounts like 0.9.x did. You should still upgrade any - user accounts in your your MySQL user table that has short (16 byte) Password - values. Connecting to those accounts is not secure. (#204) -* Ignore function values when escaping objects, allows to use RowDataPacket - objects as query arguments. (Alex Gorbatchev, #213) -* Handle initial error packets from server such as `ER_HOST_NOT_PRIVILEGED`. -* Treat `utf8\_bin` as a String, not Buffer. (#214) -* Handle empty strings in first row column value. (#222) -* Honor Connection#nestTables setting for queries. (#221) -* Remove `CLIENT_INTERACTIVE` flag from config. Improves #225. -* Improve docs for connections settings. -* Implement url string support for Connection configs. - -## v2.0.0-alpha2 (2012-05-31) - -* Specify escaping before for NaN / Infinity (they are as unquoted constants). -* Support for unix domain socket connections (use: {socketPath: '...'}). -* Fix type casting for NULL values for Date/Number fields -* Add `fields` argument to `query()` as well as `'fields'` event. This is - similar to what was available in 0.9.x. -* Support connecting to the sphinx searchd daemon as well as MariaDB (#199). -* Implement long stack trace support, will be removed / disabled if the node - core ever supports it natively. -* Implement `nestTables` option for queries, allows fetching JOIN result sets - with overlapping column names. -* Fix ? placeholder mechanism for values containing '?' characters (#205). -* Detect when `connect()` is called more than once on a connection and provide - the user with a good error message for it (#204). -* Switch to `UTF8_GENERAL_CI` (previously `UTF8_UNICODE_CI`) as the default - charset for all connections to avoid strange MySQL performance issues (#200), - and also make the charset user configurable. -* Fix BLOB type casting for `TINY_BLOB`, `MEDIUM_BLOB` and `LONG_BLOB`. -* Add support for sending and receiving large (> 16 MB) packets. - -## v2.0.0-alpha (2012-05-15) - -This release is a rewrite. You should carefully test your application after -upgrading to avoid problems. This release features many improvements, most -importantly: - -* ~5x faster than v0.9.x for parsing query results -* Support for pause() / resume() (for streaming rows) -* Support for multiple statement queries -* Support for stored procedures -* Support for transactions -* Support for binary columns (as blobs) -* Consistent & well documented error handling -* A new Connection class that has well defined semantics (unlike the old Client class). -* Convenient escaping of objects / arrays that allows for simpler query construction -* A significantly simpler code base -* Many bug fixes & other small improvements (Closed 62 out of 66 GitHub issues) - -Below are a few notes on the upgrade process itself: - -The first thing you will run into is that the old `Client` class is gone and -has been replaced with a less ambitious `Connection` class. So instead of -`mysql.createClient()`, you now have to: - -```js -var mysql = require('mysql'); -var connection = mysql.createConnection({ - host : 'localhost', - user : 'me', - password : 'secret', -}); - -connection.query('SELECT 1', function(err, rows) { - if (err) throw err; - - console.log('Query result: ', rows); -}); - -connection.end(); -``` - -The new `Connection` class does not try to handle re-connects, please study the -`Server disconnects` section in the new Readme. - -Other than that, the interface has stayed very similar. Here are a few things -to check out so: - -* BIGINT's are now cast into strings -* Binary data is now cast to buffers -* The `'row'` event on the `Query` object is now called `'result'` and will - also be emitted for queries that produce an OK/Error response. -* Error handling is consistently defined now, check the Readme -* Escaping has become more powerful which may break your code if you are - currently using objects to fill query placeholders. -* Connections can now be established explicitly again, so you may wish to do so - if you want to handle connection errors specifically. - -That should be most of it, if you run into anything else, please send a patch -or open an issue to improve this document. - -## v0.9.6 (2012-03-12) - -* Escape array values so they produce sql arrays (Roger Castells, Colin Smith) -* docs: mention mysql transaction stop gap solution (Blake Miner) -* docs: Mention affectedRows in FAQ (Michael Baldwin) - -## v0.9.5 (2011-11-26) - -* Fix #142 Driver stalls upon reconnect attempt that's immediately closed -* Add travis build -* Switch to urun as a test runner -* Switch to utest for unit tests -* Remove fast-or-slow dependency for tests -* Split integration tests into individual files again - -## v0.9.4 (2011-08-31) - -* Expose package.json as `mysql.PACKAGE` (#104) - -## v0.9.3 (2011-08-22) - -* Set default `client.user` to root -* Fix #91: Client#format should not mutate params array -* Fix #94: TypeError in client.js -* Parse decimals as string (vadimg) - -## v0.9.2 (2011-08-07) - -* The underlaying socket connection is now managed implicitly rather than explicitly. -* Check the [upgrading guide][] for a full list of changes. - -## v0.9.1 (2011-02-20) - -* Fix issue #49 / `client.escape()` throwing exceptions on objects. (Nick Payne) -* Drop < v0.4.x compatibility. From now on you need node v0.4.x to use this module. - -## Older releases - -These releases were done before maintaining this file: - -* [v0.9.0](https://github.com/mysqljs/mysql/compare/v0.8.0...v0.9.0) - (2011-01-04) -* [v0.8.0](https://github.com/mysqljs/mysql/compare/v0.7.0...v0.8.0) - (2010-10-30) -* [v0.7.0](https://github.com/mysqljs/mysql/compare/v0.6.0...v0.7.0) - (2010-10-14) -* [v0.6.0](https://github.com/mysqljs/mysql/compare/v0.5.0...v0.6.0) - (2010-09-28) -* [v0.5.0](https://github.com/mysqljs/mysql/compare/v0.4.0...v0.5.0) - (2010-09-17) -* [v0.4.0](https://github.com/mysqljs/mysql/compare/v0.3.0...v0.4.0) - (2010-09-02) -* [v0.3.0](https://github.com/mysqljs/mysql/compare/v0.2.0...v0.3.0) - (2010-08-25) -* [v0.2.0](https://github.com/mysqljs/mysql/compare/v0.1.0...v0.2.0) - (2010-08-22) -* [v0.1.0](https://github.com/mysqljs/mysql/commits/v0.1.0) - (2010-08-22) diff --git a/node_modules/mysql/License b/node_modules/mysql/License deleted file mode 100644 index c7ff12a..0000000 --- a/node_modules/mysql/License +++ /dev/null @@ -1,19 +0,0 @@ -Copyright (c) 2012 Felix Geisendörfer (felix@debuggable.com) and contributors - - Permission is hereby granted, free of charge, to any person obtaining a copy - of this software and associated documentation files (the "Software"), to deal - in the Software without restriction, including without limitation the rights - to use, copy, modify, merge, publish, distribute, sublicense, and/or sell - copies of the Software, and to permit persons to whom the Software is - furnished to do so, subject to the following conditions: - - The above copyright notice and this permission notice shall be included in - all copies or substantial portions of the Software. - - THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR - IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, - FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE - AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER - LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, - OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN - THE SOFTWARE. diff --git a/node_modules/mysql/Readme.md b/node_modules/mysql/Readme.md deleted file mode 100644 index d7c9aa2..0000000 --- a/node_modules/mysql/Readme.md +++ /dev/null @@ -1,1548 +0,0 @@ -# mysql - -[![NPM Version][npm-version-image]][npm-url] -[![NPM Downloads][npm-downloads-image]][npm-url] -[![Node.js Version][node-image]][node-url] -[![Linux Build][travis-image]][travis-url] -[![Windows Build][appveyor-image]][appveyor-url] -[![Test Coverage][coveralls-image]][coveralls-url] - -## Table of Contents - -- [Install](#install) -- [Introduction](#introduction) -- [Contributors](#contributors) -- [Sponsors](#sponsors) -- [Community](#community) -- [Establishing connections](#establishing-connections) -- [Connection options](#connection-options) - - [SSL options](#ssl-options) - - [Connection flags](#connection-flags) -- [Terminating connections](#terminating-connections) -- [Pooling connections](#pooling-connections) -- [Pool options](#pool-options) -- [Pool events](#pool-events) - - [acquire](#acquire) - - [connection](#connection) - - [enqueue](#enqueue) - - [release](#release) -- [Closing all the connections in a pool](#closing-all-the-connections-in-a-pool) -- [PoolCluster](#poolcluster) - - [PoolCluster options](#poolcluster-options) -- [Switching users and altering connection state](#switching-users-and-altering-connection-state) -- [Server disconnects](#server-disconnects) -- [Performing queries](#performing-queries) -- [Escaping query values](#escaping-query-values) -- [Escaping query identifiers](#escaping-query-identifiers) - - [Preparing Queries](#preparing-queries) - - [Custom format](#custom-format) -- [Getting the id of an inserted row](#getting-the-id-of-an-inserted-row) -- [Getting the number of affected rows](#getting-the-number-of-affected-rows) -- [Getting the number of changed rows](#getting-the-number-of-changed-rows) -- [Getting the connection ID](#getting-the-connection-id) -- [Executing queries in parallel](#executing-queries-in-parallel) -- [Streaming query rows](#streaming-query-rows) - - [Piping results with Streams](#piping-results-with-streams) -- [Multiple statement queries](#multiple-statement-queries) -- [Stored procedures](#stored-procedures) -- [Joins with overlapping column names](#joins-with-overlapping-column-names) -- [Transactions](#transactions) -- [Ping](#ping) -- [Timeouts](#timeouts) -- [Error handling](#error-handling) -- [Exception Safety](#exception-safety) -- [Type casting](#type-casting) - - [Number](#number) - - [Date](#date) - - [Buffer](#buffer) - - [String](#string) - - [Custom type casting](#custom-type-casting) -- [Debugging and reporting problems](#debugging-and-reporting-problems) -- [Security issues](#security-issues) -- [Contributing](#contributing) -- [Running tests](#running-tests) - - [Running unit tests](#running-unit-tests) - - [Running integration tests](#running-integration-tests) -- [Todo](#todo) - -## Install - -This is a [Node.js](https://nodejs.org/en/) module available through the -[npm registry](https://www.npmjs.com/). - -Before installing, [download and install Node.js](https://nodejs.org/en/download/). -Node.js 0.6 or higher is required. - -Installation is done using the -[`npm install` command](https://docs.npmjs.com/getting-started/installing-npm-packages-locally): - -```sh -$ npm install mysql -``` - -For information about the previous 0.9.x releases, visit the [v0.9 branch][]. - -Sometimes I may also ask you to install the latest version from Github to check -if a bugfix is working. In this case, please do: - -```sh -$ npm install mysqljs/mysql -``` - -[v0.9 branch]: https://github.com/mysqljs/mysql/tree/v0.9 - -## Introduction - -This is a node.js driver for mysql. It is written in JavaScript, does not -require compiling, and is 100% MIT licensed. - -Here is an example on how to use it: - -```js -var mysql = require('mysql'); -var connection = mysql.createConnection({ - host : 'localhost', - user : 'me', - password : 'secret', - database : 'my_db' -}); - -connection.connect(); - -connection.query('SELECT 1 + 1 AS solution', function (error, results, fields) { - if (error) throw error; - console.log('The solution is: ', results[0].solution); -}); - -connection.end(); -``` - -From this example, you can learn the following: - -* Every method you invoke on a connection is queued and executed in sequence. -* Closing the connection is done using `end()` which makes sure all remaining - queries are executed before sending a quit packet to the mysql server. - -## Contributors - -Thanks goes to the people who have contributed code to this module, see the -[GitHub Contributors page][]. - -[GitHub Contributors page]: https://github.com/mysqljs/mysql/graphs/contributors - -Additionally I'd like to thank the following people: - -* [Andrey Hristov][] (Oracle) - for helping me with protocol questions. -* [Ulf Wendel][] (Oracle) - for helping me with protocol questions. - -[Ulf Wendel]: http://blog.ulf-wendel.de/ -[Andrey Hristov]: http://andrey.hristov.com/ - -## Sponsors - -The following companies have supported this project financially, allowing me to -spend more time on it (ordered by time of contribution): - -* [Transloadit](http://transloadit.com) (my startup, we do file uploading & - video encoding as a service, check it out) -* [Joyent](http://www.joyent.com/) -* [pinkbike.com](http://pinkbike.com/) -* [Holiday Extras](http://www.holidayextras.co.uk/) (they are [hiring](http://join.holidayextras.co.uk/)) -* [Newscope](http://newscope.com/) (they are [hiring](https://newscope.com/unternehmen/jobs/)) - -## Community - -If you'd like to discuss this module, or ask questions about it, please use one -of the following: - -* **Mailing list**: https://groups.google.com/forum/#!forum/node-mysql -* **IRC Channel**: #node.js (on freenode.net, I pay attention to any message - including the term `mysql`) - -## Establishing connections - -The recommended way to establish a connection is this: - -```js -var mysql = require('mysql'); -var connection = mysql.createConnection({ - host : 'example.org', - user : 'bob', - password : 'secret' -}); - -connection.connect(function(err) { - if (err) { - console.error('error connecting: ' + err.stack); - return; - } - - console.log('connected as id ' + connection.threadId); -}); -``` - -However, a connection can also be implicitly established by invoking a query: - -```js -var mysql = require('mysql'); -var connection = mysql.createConnection(...); - -connection.query('SELECT 1', function (error, results, fields) { - if (error) throw error; - // connected! -}); -``` - -Depending on how you like to handle your errors, either method may be -appropriate. Any type of connection error (handshake or network) is considered -a fatal error, see the [Error Handling](#error-handling) section for more -information. - -## Connection options - -When establishing a connection, you can set the following options: - -* `host`: The hostname of the database you are connecting to. (Default: - `localhost`) -* `port`: The port number to connect to. (Default: `3306`) -* `localAddress`: The source IP address to use for TCP connection. (Optional) -* `socketPath`: The path to a unix domain socket to connect to. When used `host` - and `port` are ignored. -* `user`: The MySQL user to authenticate as. -* `password`: The password of that MySQL user. -* `database`: Name of the database to use for this connection (Optional). -* `charset`: The charset for the connection. This is called "collation" in the SQL-level - of MySQL (like `utf8_general_ci`). If a SQL-level charset is specified (like `utf8mb4`) - then the default collation for that charset is used. (Default: `'UTF8_GENERAL_CI'`) -* `timezone`: The timezone configured on the MySQL server. This is used to type cast server date/time values to JavaScript `Date` object and vice versa. This can be `'local'`, `'Z'`, or an offset in the form `+HH:MM` or `-HH:MM`. (Default: `'local'`) -* `connectTimeout`: The milliseconds before a timeout occurs during the initial connection - to the MySQL server. (Default: `10000`) -* `stringifyObjects`: Stringify objects instead of converting to values. See -issue [#501](https://github.com/mysqljs/mysql/issues/501). (Default: `false`) -* `insecureAuth`: Allow connecting to MySQL instances that ask for the old - (insecure) authentication method. (Default: `false`) -* `typeCast`: Determines if column values should be converted to native - JavaScript types. (Default: `true`) -* `queryFormat`: A custom query format function. See [Custom format](#custom-format). -* `supportBigNumbers`: When dealing with big numbers (BIGINT and DECIMAL columns) in the database, - you should enable this option (Default: `false`). -* `bigNumberStrings`: Enabling both `supportBigNumbers` and `bigNumberStrings` forces big numbers - (BIGINT and DECIMAL columns) to be always returned as JavaScript String objects (Default: `false`). - Enabling `supportBigNumbers` but leaving `bigNumberStrings` disabled will return big numbers as String - objects only when they cannot be accurately represented with [JavaScript Number objects] (http://ecma262-5.com/ELS5_HTML.htm#Section_8.5) - (which happens when they exceed the [-2^53, +2^53] range), otherwise they will be returned as - Number objects. This option is ignored if `supportBigNumbers` is disabled. -* `dateStrings`: Force date types (TIMESTAMP, DATETIME, DATE) to be returned as strings rather than - inflated into JavaScript Date objects. Can be `true`/`false` or an array of type names to keep as - strings. (Default: `false`) -* `debug`: Prints protocol details to stdout. Can be `true`/`false` or an array of packet type names - that should be printed. (Default: `false`) -* `trace`: Generates stack traces on `Error` to include call site of library - entrance ("long stack traces"). Slight performance penalty for most calls. - (Default: `true`) -* `localInfile`: Allow `LOAD DATA INFILE` to use the `LOCAL` modifier. (Default: `true`) -* `multipleStatements`: Allow multiple mysql statements per query. Be careful - with this, it could increase the scope of SQL injection attacks. (Default: `false`) -* `flags`: List of connection flags to use other than the default ones. It is - also possible to blacklist default ones. For more information, check - [Connection Flags](#connection-flags). -* `ssl`: object with ssl parameters or a string containing name of ssl profile. See [SSL options](#ssl-options). - - -In addition to passing these options as an object, you can also use a url -string. For example: - -```js -var connection = mysql.createConnection('mysql://user:pass@host/db?debug=true&charset=BIG5_CHINESE_CI&timezone=-0700'); -``` - -Note: The query values are first attempted to be parsed as JSON, and if that -fails assumed to be plaintext strings. - -### SSL options - -The `ssl` option in the connection options takes a string or an object. When given a string, -it uses one of the predefined SSL profiles included. The following profiles are included: - -* `"Amazon RDS"`: this profile is for connecting to an Amazon RDS server and contains the - certificates from https://rds.amazonaws.com/doc/rds-ssl-ca-cert.pem and - https://s3.amazonaws.com/rds-downloads/rds-combined-ca-bundle.pem - -When connecting to other servers, you will need to provide an object of options, in the -same format as [tls.createSecureContext](https://nodejs.org/api/tls.html#tls_tls_createsecurecontext_options). -Please note the arguments expect a string of the certificate, not a file name to the -certificate. Here is a simple example: - -```js -var connection = mysql.createConnection({ - host : 'localhost', - ssl : { - ca : fs.readFileSync(__dirname + '/mysql-ca.crt') - } -}); -``` - -You can also connect to a MySQL server without properly providing the appropriate -CA to trust. _You should not do this_. - -```js -var connection = mysql.createConnection({ - host : 'localhost', - ssl : { - // DO NOT DO THIS - // set up your ca correctly to trust the connection - rejectUnauthorized: false - } -}); -``` - -### Connection flags - -If, for any reason, you would like to change the default connection flags, you -can use the connection option `flags`. Pass a string with a comma separated list -of items to add to the default flags. If you don't want a default flag to be used -prepend the flag with a minus sign. To add a flag that is not in the default list, -just write the flag name, or prefix it with a plus (case insensitive). - -```js -var connection = mysql.createConnection({ - // disable FOUND_ROWS flag, enable IGNORE_SPACE flag - flags: '-FOUND_ROWS,IGNORE_SPACE' -}); -``` - -The following flags are available: - -- `COMPRESS` - Enable protocol compression. This feature is not currently supported - by the Node.js implementation so cannot be turned on. (Default off) -- `CONNECT_WITH_DB` - Ability to specify the database on connection. (Default on) -- `FOUND_ROWS` - Send the found rows instead of the affected rows as `affectedRows`. - (Default on) -- `IGNORE_SIGPIPE` - Don't issue SIGPIPE if network failures. This flag has no effect - on this Node.js implementation. (Default on) -- `IGNORE_SPACE` - Let the parser ignore spaces before the `(` in queries. (Default on) -- `INTERACTIVE` - Indicates to the MySQL server this is an "interactive" client. This - will use the interactive timeouts on the MySQL server and report as interactive in - the process list. (Default off) -- `LOCAL_FILES` - Can use `LOAD DATA LOCAL`. This flag is controlled by the connection - option `localInfile`. (Default on) -- `LONG_FLAG` - Longer flags in Protocol::ColumnDefinition320. (Default on) -- `LONG_PASSWORD` - Use the improved version of Old Password Authentication. - (Default on) -- `MULTI_RESULTS` - Can handle multiple resultsets for queries. (Default on) -- `MULTI_STATEMENTS` - The client may send multiple statement per query or - statement prepare (separated by `;`). This flag is controlled by the connection - option `multipleStatements`. (Default off) -- `NO_SCHEMA` -- `ODBC` Special handling of ODBC behaviour. This flag has no effect on this Node.js - implementation. (Default on) -- `PLUGIN_AUTH` - Uses the plugin authentication mechanism when connecting to the - MySQL server. This feature is not currently supported by the Node.js implementation - so cannot be turned on. (Default off) -- `PROTOCOL_41` - Uses the 4.1 protocol. (Default on) -- `PS_MULTI_RESULTS` - Can handle multiple resultsets for execute. (Default on) -- `REMEMBER_OPTIONS` - This is specific to the C client, and has no effect on this - Node.js implementation. (Default off) -- `RESERVED` - Old flag for the 4.1 protocol. (Default on) -- `SECURE_CONNECTION` - Support native 4.1 authentication. (Default on) -- `SSL` - Use SSL after handshake to encrypt data in transport. This feature is - controlled though the `ssl` connection option, so the flag has no effect. - (Default off) -- `SSL_VERIFY_SERVER_CERT` - Verify the server certificate during SSL set up. This - feature is controlled though the `ssl.rejectUnauthorized` connection option, so - the flag has no effect. (Default off) -- `TRANSACTIONS` - Asks for the transaction status flags. (Default on) - -## Terminating connections - -There are two ways to end a connection. Terminating a connection gracefully is -done by calling the `end()` method: - -```js -connection.end(function(err) { - // The connection is terminated now -}); -``` - -This will make sure all previously enqueued queries are still before sending a -`COM_QUIT` packet to the MySQL server. If a fatal error occurs before the -`COM_QUIT` packet can be sent, an `err` argument will be provided to the -callback, but the connection will be terminated regardless of that. - -An alternative way to end the connection is to call the `destroy()` method. -This will cause an immediate termination of the underlying socket. -Additionally `destroy()` guarantees that no more events or callbacks will be -triggered for the connection. - -```js -connection.destroy(); -``` - -Unlike `end()` the `destroy()` method does not take a callback argument. - -## Pooling connections - -Rather than creating and managing connections one-by-one, this module also -provides built-in connection pooling using `mysql.createPool(config)`. -[Read more about connection pooling](https://en.wikipedia.org/wiki/Connection_pool). - -Create a pool and use it directly: - -```js -var mysql = require('mysql'); -var pool = mysql.createPool({ - connectionLimit : 10, - host : 'example.org', - user : 'bob', - password : 'secret', - database : 'my_db' -}); - -pool.query('SELECT 1 + 1 AS solution', function (error, results, fields) { - if (error) throw error; - console.log('The solution is: ', results[0].solution); -}); -``` - -This is a shortcut for the `pool.getConnection()` -> `connection.query()` -> -`connection.release()` code flow. Using `pool.getConnection()` is useful to -share connection state for subsequent queries. This is because two calls to -`pool.query()` may use two different connections and run in parallel. This is -the basic structure: - -```js -var mysql = require('mysql'); -var pool = mysql.createPool(...); - -pool.getConnection(function(err, connection) { - if (err) throw err; // not connected! - - // Use the connection - connection.query('SELECT something FROM sometable', function (error, results, fields) { - // When done with the connection, release it. - connection.release(); - - // Handle error after the release. - if (error) throw error; - - // Don't use the connection here, it has been returned to the pool. - }); -}); -``` - -If you would like to close the connection and remove it from the pool, use -`connection.destroy()` instead. The pool will create a new connection the next -time one is needed. - -Connections are lazily created by the pool. If you configure the pool to allow -up to 100 connections, but only ever use 5 simultaneously, only 5 connections -will be made. Connections are also cycled round-robin style, with connections -being taken from the top of the pool and returning to the bottom. - -When a previous connection is retrieved from the pool, a ping packet is sent -to the server to check if the connection is still good. - -## Pool options - -Pools accept all the same [options as a connection](#connection-options). -When creating a new connection, the options are simply passed to the connection -constructor. In addition to those options pools accept a few extras: - -* `acquireTimeout`: The milliseconds before a timeout occurs during the connection - acquisition. This is slightly different from `connectTimeout`, because acquiring - a pool connection does not always involve making a connection. If a connection - request is queued, the time the request spends in the queue does not count - towards this timeout. (Default: `10000`) -* `waitForConnections`: Determines the pool's action when no connections are - available and the limit has been reached. If `true`, the pool will queue the - connection request and call it when one becomes available. If `false`, the - pool will immediately call back with an error. (Default: `true`) -* `connectionLimit`: The maximum number of connections to create at once. - (Default: `10`) -* `queueLimit`: The maximum number of connection requests the pool will queue - before returning an error from `getConnection`. If set to `0`, there is no - limit to the number of queued connection requests. (Default: `0`) - -## Pool events - -### acquire - -The pool will emit an `acquire` event when a connection is acquired from the pool. -This is called after all acquiring activity has been performed on the connection, -right before the connection is handed to the callback of the acquiring code. - -```js -pool.on('acquire', function (connection) { - console.log('Connection %d acquired', connection.threadId); -}); -``` - -### connection - -The pool will emit a `connection` event when a new connection is made within the pool. -If you need to set session variables on the connection before it gets used, you can -listen to the `connection` event. - -```js -pool.on('connection', function (connection) { - connection.query('SET SESSION auto_increment_increment=1') -}); -``` - -### enqueue - -The pool will emit an `enqueue` event when a callback has been queued to wait for -an available connection. - -```js -pool.on('enqueue', function () { - console.log('Waiting for available connection slot'); -}); -``` - -### release - -The pool will emit a `release` event when a connection is released back to the -pool. This is called after all release activity has been performed on the connection, -so the connection will be listed as free at the time of the event. - -```js -pool.on('release', function (connection) { - console.log('Connection %d released', connection.threadId); -}); -``` - -## Closing all the connections in a pool - -When you are done using the pool, you have to end all the connections or the -Node.js event loop will stay active until the connections are closed by the -MySQL server. This is typically done if the pool is used in a script or when -trying to gracefully shutdown a server. To end all the connections in the -pool, use the `end` method on the pool: - -```js -pool.end(function (err) { - // all connections in the pool have ended -}); -``` - -The `end` method takes an _optional_ callback that you can use to know when -all the connections are ended. - -**Once `pool.end` is called, `pool.getConnection` and other operations -can no longer be performed.** Wait until all connections in the pool are -released before calling `pool.end`. If you use the shortcut method -`pool.query`, in place of `pool.getConnection` → `connection.query` → -`connection.release`, wait until it completes. - -`pool.end` calls `connection.end` on every active connection in the pool. -This queues a `QUIT` packet on the connection and sets a flag to prevent -`pool.getConnection` from creating new connections. All commands / queries -already in progress will complete, but new commands won't execute. - -## PoolCluster - -PoolCluster provides multiple hosts connection. (group & retry & selector) - -```js -// create -var poolCluster = mysql.createPoolCluster(); - -// add configurations (the config is a pool config object) -poolCluster.add(config); // add configuration with automatic name -poolCluster.add('MASTER', masterConfig); // add a named configuration -poolCluster.add('SLAVE1', slave1Config); -poolCluster.add('SLAVE2', slave2Config); - -// remove configurations -poolCluster.remove('SLAVE2'); // By nodeId -poolCluster.remove('SLAVE*'); // By target group : SLAVE1-2 - -// Target Group : ALL(anonymous, MASTER, SLAVE1-2), Selector : round-robin(default) -poolCluster.getConnection(function (err, connection) {}); - -// Target Group : MASTER, Selector : round-robin -poolCluster.getConnection('MASTER', function (err, connection) {}); - -// Target Group : SLAVE1-2, Selector : order -// If can't connect to SLAVE1, return SLAVE2. (remove SLAVE1 in the cluster) -poolCluster.on('remove', function (nodeId) { - console.log('REMOVED NODE : ' + nodeId); // nodeId = SLAVE1 -}); - -// A pattern can be passed with * as wildcard -poolCluster.getConnection('SLAVE*', 'ORDER', function (err, connection) {}); - -// The pattern can also be a regular expression -poolCluster.getConnection(/^SLAVE[12]$/, function (err, connection) {}); - -// of namespace : of(pattern, selector) -poolCluster.of('*').getConnection(function (err, connection) {}); - -var pool = poolCluster.of('SLAVE*', 'RANDOM'); -pool.getConnection(function (err, connection) {}); -pool.getConnection(function (err, connection) {}); -pool.query(function (error, results, fields) {}); - -// close all connections -poolCluster.end(function (err) { - // all connections in the pool cluster have ended -}); -``` - -### PoolCluster options - -* `canRetry`: If `true`, `PoolCluster` will attempt to reconnect when connection fails. (Default: `true`) -* `removeNodeErrorCount`: If connection fails, node's `errorCount` increases. - When `errorCount` is greater than `removeNodeErrorCount`, remove a node in the `PoolCluster`. (Default: `5`) -* `restoreNodeTimeout`: If connection fails, specifies the number of milliseconds - before another connection attempt will be made. If set to `0`, then node will be - removed instead and never re-used. (Default: `0`) -* `defaultSelector`: The default selector. (Default: `RR`) - * `RR`: Select one alternately. (Round-Robin) - * `RANDOM`: Select the node by random function. - * `ORDER`: Select the first node available unconditionally. - -```js -var clusterConfig = { - removeNodeErrorCount: 1, // Remove the node immediately when connection fails. - defaultSelector: 'ORDER' -}; - -var poolCluster = mysql.createPoolCluster(clusterConfig); -``` - -## Switching users and altering connection state - -MySQL offers a changeUser command that allows you to alter the current user and -other aspects of the connection without shutting down the underlying socket: - -```js -connection.changeUser({user : 'john'}, function(err) { - if (err) throw err; -}); -``` - -The available options for this feature are: - -* `user`: The name of the new user (defaults to the previous one). -* `password`: The password of the new user (defaults to the previous one). -* `charset`: The new charset (defaults to the previous one). -* `database`: The new database (defaults to the previous one). - -A sometimes useful side effect of this functionality is that this function also -resets any connection state (variables, transactions, etc.). - -Errors encountered during this operation are treated as fatal connection errors -by this module. - -## Server disconnects - -You may lose the connection to a MySQL server due to network problems, the -server timing you out, the server being restarted, or crashing. All of these -events are considered fatal errors, and will have the `err.code = -'PROTOCOL_CONNECTION_LOST'`. See the [Error Handling](#error-handling) section -for more information. - -Re-connecting a connection is done by establishing a new connection. Once -terminated, an existing connection object cannot be re-connected by design. - -With Pool, disconnected connections will be removed from the pool freeing up -space for a new connection to be created on the next getConnection call. - -With PoolCluster, disconnected connections will count as errors against the -related node, incrementing the error code for that node. Once there are more than -`removeNodeErrorCount` errors on a given node, it is removed from the cluster. -When this occurs, the PoolCluster may emit a `POOL_NONEONLINE` error if there are -no longer any matching nodes for the pattern. The `restoreNodeTimeout` config can -be set to restore offline nodes after a given timeout. - -## Performing queries - -The most basic way to perform a query is to call the `.query()` method on an object -(like a `Connection`, `Pool`, or `PoolNamespace` instance). - -The simplest form of .`query()` is `.query(sqlString, callback)`, where a SQL string -is the first argument and the second is a callback: - -```js -connection.query('SELECT * FROM `books` WHERE `author` = "David"', function (error, results, fields) { - // error will be an Error if one occurred during the query - // results will contain the results of the query - // fields will contain information about the returned results fields (if any) -}); -``` - -The second form `.query(sqlString, values, callback)` comes when using -placeholder values (see [escaping query values](#escaping-query-values)): - -```js -connection.query('SELECT * FROM `books` WHERE `author` = ?', ['David'], function (error, results, fields) { - // error will be an Error if one occurred during the query - // results will contain the results of the query - // fields will contain information about the returned results fields (if any) -}); -``` - -The third form `.query(options, callback)` comes when using various advanced -options on the query, like [escaping query values](#escaping-query-values), -[joins with overlapping column names](#joins-with-overlapping-column-names), -[timeouts](#timeout), and [type casting](#type-casting). - -```js -connection.query({ - sql: 'SELECT * FROM `books` WHERE `author` = ?', - timeout: 40000, // 40s - values: ['David'] -}, function (error, results, fields) { - // error will be an Error if one occurred during the query - // results will contain the results of the query - // fields will contain information about the returned results fields (if any) -}); -``` - -Note that a combination of the second and third forms can be used where the -placeholder values are passed as an argument and not in the options object. -The `values` argument will override the `values` in the option object. - -```js -connection.query({ - sql: 'SELECT * FROM `books` WHERE `author` = ?', - timeout: 40000, // 40s - }, - ['David'], - function (error, results, fields) { - // error will be an Error if one occurred during the query - // results will contain the results of the query - // fields will contain information about the returned results fields (if any) - } -); -``` - -If the query only has a single replacement character (`?`), and the value is -not `null`, `undefined`, or an array, it can be passed directly as the second -argument to `.query`: - -```js -connection.query( - 'SELECT * FROM `books` WHERE `author` = ?', - 'David', - function (error, results, fields) { - // error will be an Error if one occurred during the query - // results will contain the results of the query - // fields will contain information about the returned results fields (if any) - } -); -``` - -## Escaping query values - -**Caution** These methods of escaping values only works when the -[NO_BACKSLASH_ESCAPES](https://dev.mysql.com/doc/refman/5.7/en/sql-mode.html#sqlmode_no_backslash_escapes) -SQL mode is disabled (which is the default state for MySQL servers). - -In order to avoid SQL Injection attacks, you should always escape any user -provided data before using it inside a SQL query. You can do so using the -`mysql.escape()`, `connection.escape()` or `pool.escape()` methods: - -```js -var userId = 'some user provided value'; -var sql = 'SELECT * FROM users WHERE id = ' + connection.escape(userId); -connection.query(sql, function (error, results, fields) { - if (error) throw error; - // ... -}); -``` - -Alternatively, you can use `?` characters as placeholders for values you would -like to have escaped like this: - -```js -connection.query('SELECT * FROM users WHERE id = ?', [userId], function (error, results, fields) { - if (error) throw error; - // ... -}); -``` - -Multiple placeholders are mapped to values in the same order as passed. For example, -in the following query `foo` equals `a`, `bar` equals `b`, `baz` equals `c`, and -`id` will be `userId`: - -```js -connection.query('UPDATE users SET foo = ?, bar = ?, baz = ? WHERE id = ?', ['a', 'b', 'c', userId], function (error, results, fields) { - if (error) throw error; - // ... -}); -``` - -This looks similar to prepared statements in MySQL, however it really just uses -the same `connection.escape()` method internally. - -**Caution** This also differs from prepared statements in that all `?` are -replaced, even those contained in comments and strings. - -Different value types are escaped differently, here is how: - -* Numbers are left untouched -* Booleans are converted to `true` / `false` -* Date objects are converted to `'YYYY-mm-dd HH:ii:ss'` strings -* Buffers are converted to hex strings, e.g. `X'0fa5'` -* Strings are safely escaped -* Arrays are turned into list, e.g. `['a', 'b']` turns into `'a', 'b'` -* Nested arrays are turned into grouped lists (for bulk inserts), e.g. `[['a', - 'b'], ['c', 'd']]` turns into `('a', 'b'), ('c', 'd')` -* Objects that have a `toSqlString` method will have `.toSqlString()` called - and the returned value is used as the raw SQL. -* Objects are turned into `key = 'val'` pairs for each enumerable property on - the object. If the property's value is a function, it is skipped; if the - property's value is an object, toString() is called on it and the returned - value is used. -* `undefined` / `null` are converted to `NULL` -* `NaN` / `Infinity` are left as-is. MySQL does not support these, and trying - to insert them as values will trigger MySQL errors until they implement - support. - -This escaping allows you to do neat things like this: - -```js -var post = {id: 1, title: 'Hello MySQL'}; -var query = connection.query('INSERT INTO posts SET ?', post, function (error, results, fields) { - if (error) throw error; - // Neat! -}); -console.log(query.sql); // INSERT INTO posts SET `id` = 1, `title` = 'Hello MySQL' -``` - -And the `toSqlString` method allows you to form complex queries with functions: - -```js -var CURRENT_TIMESTAMP = { toSqlString: function() { return 'CURRENT_TIMESTAMP()'; } }; -var sql = mysql.format('UPDATE posts SET modified = ? WHERE id = ?', [CURRENT_TIMESTAMP, 42]); -console.log(sql); // UPDATE posts SET modified = CURRENT_TIMESTAMP() WHERE id = 42 -``` - -To generate objects with a `toSqlString` method, the `mysql.raw()` method can -be used. This creates an object that will be left un-touched when using in a `?` -placeholder, useful for using functions as dynamic values: - -**Caution** The string provided to `mysql.raw()` will skip all escaping -functions when used, so be careful when passing in unvalidated input. - -```js -var CURRENT_TIMESTAMP = mysql.raw('CURRENT_TIMESTAMP()'); -var sql = mysql.format('UPDATE posts SET modified = ? WHERE id = ?', [CURRENT_TIMESTAMP, 42]); -console.log(sql); // UPDATE posts SET modified = CURRENT_TIMESTAMP() WHERE id = 42 -``` - -If you feel the need to escape queries by yourself, you can also use the escaping -function directly: - -```js -var query = "SELECT * FROM posts WHERE title=" + mysql.escape("Hello MySQL"); - -console.log(query); // SELECT * FROM posts WHERE title='Hello MySQL' -``` - -## Escaping query identifiers - -If you can't trust an SQL identifier (database / table / column name) because it is -provided by a user, you should escape it with `mysql.escapeId(identifier)`, -`connection.escapeId(identifier)` or `pool.escapeId(identifier)` like this: - -```js -var sorter = 'date'; -var sql = 'SELECT * FROM posts ORDER BY ' + connection.escapeId(sorter); -connection.query(sql, function (error, results, fields) { - if (error) throw error; - // ... -}); -``` - -It also supports adding qualified identifiers. It will escape both parts. - -```js -var sorter = 'date'; -var sql = 'SELECT * FROM posts ORDER BY ' + connection.escapeId('posts.' + sorter); -// -> SELECT * FROM posts ORDER BY `posts`.`date` -``` - -If you do not want to treat `.` as qualified identifiers, you can set the second -argument to `true` in order to keep the string as a literal identifier: - -```js -var sorter = 'date.2'; -var sql = 'SELECT * FROM posts ORDER BY ' + connection.escapeId(sorter, true); -// -> SELECT * FROM posts ORDER BY `date.2` -``` - -Alternatively, you can use `??` characters as placeholders for identifiers you would -like to have escaped like this: - -```js -var userId = 1; -var columns = ['username', 'email']; -var query = connection.query('SELECT ?? FROM ?? WHERE id = ?', [columns, 'users', userId], function (error, results, fields) { - if (error) throw error; - // ... -}); - -console.log(query.sql); // SELECT `username`, `email` FROM `users` WHERE id = 1 -``` -**Please note that this last character sequence is experimental and syntax might change** - -When you pass an Object to `.escape()` or `.query()`, `.escapeId()` is used to avoid SQL injection in object keys. - -### Preparing Queries - -You can use mysql.format to prepare a query with multiple insertion points, utilizing the proper escaping for ids and values. A simple example of this follows: - -```js -var sql = "SELECT * FROM ?? WHERE ?? = ?"; -var inserts = ['users', 'id', userId]; -sql = mysql.format(sql, inserts); -``` - -Following this you then have a valid, escaped query that you can then send to the database safely. This is useful if you are looking to prepare the query before actually sending it to the database. As mysql.format is exposed from SqlString.format you also have the option (but are not required) to pass in stringifyObject and timezone, allowing you provide a custom means of turning objects into strings, as well as a location-specific/timezone-aware Date. - -### Custom format - -If you prefer to have another type of query escape format, there's a connection configuration option you can use to define a custom format function. You can access the connection object if you want to use the built-in `.escape()` or any other connection function. - -Here's an example of how to implement another format: - -```js -connection.config.queryFormat = function (query, values) { - if (!values) return query; - return query.replace(/\:(\w+)/g, function (txt, key) { - if (values.hasOwnProperty(key)) { - return this.escape(values[key]); - } - return txt; - }.bind(this)); -}; - -connection.query("UPDATE posts SET title = :title", { title: "Hello MySQL" }); -``` - -## Getting the id of an inserted row - -If you are inserting a row into a table with an auto increment primary key, you -can retrieve the insert id like this: - -```js -connection.query('INSERT INTO posts SET ?', {title: 'test'}, function (error, results, fields) { - if (error) throw error; - console.log(results.insertId); -}); -``` - -When dealing with big numbers (above JavaScript Number precision limit), you should -consider enabling `supportBigNumbers` option to be able to read the insert id as a -string, otherwise it will throw an error. - -This option is also required when fetching big numbers from the database, otherwise -you will get values rounded to hundreds or thousands due to the precision limit. - -## Getting the number of affected rows - -You can get the number of affected rows from an insert, update or delete statement. - -```js -connection.query('DELETE FROM posts WHERE title = "wrong"', function (error, results, fields) { - if (error) throw error; - console.log('deleted ' + results.affectedRows + ' rows'); -}) -``` - -## Getting the number of changed rows - -You can get the number of changed rows from an update statement. - -"changedRows" differs from "affectedRows" in that it does not count updated rows -whose values were not changed. - -```js -connection.query('UPDATE posts SET ...', function (error, results, fields) { - if (error) throw error; - console.log('changed ' + results.changedRows + ' rows'); -}) -``` - -## Getting the connection ID - -You can get the MySQL connection ID ("thread ID") of a given connection using the `threadId` -property. - -```js -connection.connect(function(err) { - if (err) throw err; - console.log('connected as id ' + connection.threadId); -}); -``` - -## Executing queries in parallel - -The MySQL protocol is sequential, this means that you need multiple connections -to execute queries in parallel. You can use a Pool to manage connections, one -simple approach is to create one connection per incoming http request. - -## Streaming query rows - -Sometimes you may want to select large quantities of rows and process each of -them as they are received. This can be done like this: - -```js -var query = connection.query('SELECT * FROM posts'); -query - .on('error', function(err) { - // Handle error, an 'end' event will be emitted after this as well - }) - .on('fields', function(fields) { - // the field packets for the rows to follow - }) - .on('result', function(row) { - // Pausing the connnection is useful if your processing involves I/O - connection.pause(); - - processRow(row, function() { - connection.resume(); - }); - }) - .on('end', function() { - // all rows have been received - }); -``` - -Please note a few things about the example above: - -* Usually you will want to receive a certain amount of rows before starting to - throttle the connection using `pause()`. This number will depend on the - amount and size of your rows. -* `pause()` / `resume()` operate on the underlying socket and parser. You are - guaranteed that no more `'result'` events will fire after calling `pause()`. -* You MUST NOT provide a callback to the `query()` method when streaming rows. -* The `'result'` event will fire for both rows as well as OK packets - confirming the success of a INSERT/UPDATE query. -* It is very important not to leave the result paused too long, or you may - encounter `Error: Connection lost: The server closed the connection.` - The time limit for this is determined by the - [net_write_timeout setting](https://dev.mysql.com/doc/refman/5.5/en/server-system-variables.html#sysvar_net_write_timeout) - on your MySQL server. - -Additionally you may be interested to know that it is currently not possible to -stream individual row columns, they will always be buffered up entirely. If you -have a good use case for streaming large fields to and from MySQL, I'd love to -get your thoughts and contributions on this. - -### Piping results with Streams - -The query object provides a convenience method `.stream([options])` that wraps -query events into a [Readable Stream](http://nodejs.org/api/stream.html#stream_class_stream_readable) -object. This stream can easily be piped downstream and provides automatic -pause/resume, based on downstream congestion and the optional `highWaterMark`. -The `objectMode` parameter of the stream is set to `true` and cannot be changed -(if you need a byte stream, you will need to use a transform stream, like -[objstream](https://www.npmjs.com/package/objstream) for example). - -For example, piping query results into another stream (with a max buffer of 5 -objects) is simply: - -```js -connection.query('SELECT * FROM posts') - .stream({highWaterMark: 5}) - .pipe(...); -``` - -## Multiple statement queries - -Support for multiple statements is disabled for security reasons (it allows for -SQL injection attacks if values are not properly escaped). To use this feature -you have to enable it for your connection: - -```js -var connection = mysql.createConnection({multipleStatements: true}); -``` - -Once enabled, you can execute multiple statement queries like any other query: - -```js -connection.query('SELECT 1; SELECT 2', function (error, results, fields) { - if (error) throw error; - // `results` is an array with one element for every statement in the query: - console.log(results[0]); // [{1: 1}] - console.log(results[1]); // [{2: 2}] -}); -``` - -Additionally you can also stream the results of multiple statement queries: - -```js -var query = connection.query('SELECT 1; SELECT 2'); - -query - .on('fields', function(fields, index) { - // the fields for the result rows that follow - }) - .on('result', function(row, index) { - // index refers to the statement this result belongs to (starts at 0) - }); -``` - -If one of the statements in your query causes an error, the resulting Error -object contains a `err.index` property which tells you which statement caused -it. MySQL will also stop executing any remaining statements when an error -occurs. - -Please note that the interface for streaming multiple statement queries is -experimental and I am looking forward to feedback on it. - -## Stored procedures - -You can call stored procedures from your queries as with any other mysql driver. -If the stored procedure produces several result sets, they are exposed to you -the same way as the results for multiple statement queries. - -## Joins with overlapping column names - -When executing joins, you are likely to get result sets with overlapping column -names. - -By default, node-mysql will overwrite colliding column names in the -order the columns are received from MySQL, causing some of the received values -to be unavailable. - -However, you can also specify that you want your columns to be nested below -the table name like this: - -```js -var options = {sql: '...', nestTables: true}; -connection.query(options, function (error, results, fields) { - if (error) throw error; - /* results will be an array like this now: - [{ - table1: { - fieldA: '...', - fieldB: '...', - }, - table2: { - fieldA: '...', - fieldB: '...', - }, - }, ...] - */ -}); -``` - -Or use a string separator to have your results merged. - -```js -var options = {sql: '...', nestTables: '_'}; -connection.query(options, function (error, results, fields) { - if (error) throw error; - /* results will be an array like this now: - [{ - table1_fieldA: '...', - table1_fieldB: '...', - table2_fieldA: '...', - table2_fieldB: '...', - }, ...] - */ -}); -``` - -## Transactions - -Simple transaction support is available at the connection level: - -```js -connection.beginTransaction(function(err) { - if (err) { throw err; } - connection.query('INSERT INTO posts SET title=?', title, function (error, results, fields) { - if (error) { - return connection.rollback(function() { - throw error; - }); - } - - var log = 'Post ' + results.insertId + ' added'; - - connection.query('INSERT INTO log SET data=?', log, function (error, results, fields) { - if (error) { - return connection.rollback(function() { - throw error; - }); - } - connection.commit(function(err) { - if (err) { - return connection.rollback(function() { - throw err; - }); - } - console.log('success!'); - }); - }); - }); -}); -``` -Please note that beginTransaction(), commit() and rollback() are simply convenience -functions that execute the START TRANSACTION, COMMIT, and ROLLBACK commands respectively. -It is important to understand that many commands in MySQL can cause an implicit commit, -as described [in the MySQL documentation](http://dev.mysql.com/doc/refman/5.5/en/implicit-commit.html) - -## Ping - -A ping packet can be sent over a connection using the `connection.ping` method. This -method will send a ping packet to the server and when the server responds, the callback -will fire. If an error occurred, the callback will fire with an error argument. - -```js -connection.ping(function (err) { - if (err) throw err; - console.log('Server responded to ping'); -}) -``` - -## Timeouts - -Every operation takes an optional inactivity timeout option. This allows you to -specify appropriate timeouts for operations. It is important to note that these -timeouts are not part of the MySQL protocol, and rather timeout operations through -the client. This means that when a timeout is reached, the connection it occurred -on will be destroyed and no further operations can be performed. - -```js -// Kill query after 60s -connection.query({sql: 'SELECT COUNT(*) AS count FROM big_table', timeout: 60000}, function (error, results, fields) { - if (error && error.code === 'PROTOCOL_SEQUENCE_TIMEOUT') { - throw new Error('too long to count table rows!'); - } - - if (error) { - throw error; - } - - console.log(results[0].count + ' rows'); -}); -``` - -## Error handling - -This module comes with a consistent approach to error handling that you should -review carefully in order to write solid applications. - -Most errors created by this module are instances of the JavaScript [Error][] -object. Additionally they typically come with two extra properties: - -* `err.code`: String, contains the MySQL server error symbol if the error is - a [MySQL server error][] (e.g. `'ER_ACCESS_DENIED_ERROR'`), a Node.js error - code if it is a Node.js error (e.g. `'ECONNREFUSED'`), or an internal error - code (e.g. `'PROTOCOL_CONNECTION_LOST'`). -* `err.errno`: Number, contains the MySQL server error number. Only populated - from [MySQL server error][]. -* `err.fatal`: Boolean, indicating if this error is terminal to the connection - object. If the error is not from a MySQL protocol operation, this property - will not be defined. -* `err.sql`: String, contains the full SQL of the failed query. This can be - useful when using a higher level interface like an ORM that is generating - the queries. -* `err.sqlState`: String, contains the five-character SQLSTATE value. Only populated from [MySQL server error][]. -* `err.sqlMessage`: String, contains the message string that provides a - textual description of the error. Only populated from [MySQL server error][]. - -[Error]: https://developer.mozilla.org/en/JavaScript/Reference/Global_Objects/Error -[MySQL server error]: https://dev.mysql.com/doc/refman/5.5/en/server-error-reference.html - -Fatal errors are propagated to *all* pending callbacks. In the example below, a -fatal error is triggered by trying to connect to an invalid port. Therefore the -error object is propagated to both pending callbacks: - -```js -var connection = require('mysql').createConnection({ - port: 84943, // WRONG PORT -}); - -connection.connect(function(err) { - console.log(err.code); // 'ECONNREFUSED' - console.log(err.fatal); // true -}); - -connection.query('SELECT 1', function (error, results, fields) { - console.log(error.code); // 'ECONNREFUSED' - console.log(error.fatal); // true -}); -``` - -Normal errors however are only delegated to the callback they belong to. So in -the example below, only the first callback receives an error, the second query -works as expected: - -```js -connection.query('USE name_of_db_that_does_not_exist', function (error, results, fields) { - console.log(error.code); // 'ER_BAD_DB_ERROR' -}); - -connection.query('SELECT 1', function (error, results, fields) { - console.log(error); // null - console.log(results.length); // 1 -}); -``` - -Last but not least: If a fatal errors occurs and there are no pending -callbacks, or a normal error occurs which has no callback belonging to it, the -error is emitted as an `'error'` event on the connection object. This is -demonstrated in the example below: - -```js -connection.on('error', function(err) { - console.log(err.code); // 'ER_BAD_DB_ERROR' -}); - -connection.query('USE name_of_db_that_does_not_exist'); -``` - -Note: `'error'` events are special in node. If they occur without an attached -listener, a stack trace is printed and your process is killed. - -**tl;dr:** This module does not want you to deal with silent failures. You -should always provide callbacks to your method calls. If you want to ignore -this advice and suppress unhandled errors, you can do this: - -```js -// I am Chuck Norris: -connection.on('error', function() {}); -``` - -## Exception Safety - -This module is exception safe. That means you can continue to use it, even if -one of your callback functions throws an error which you're catching using -'uncaughtException' or a domain. - -## Type casting - -For your convenience, this driver will cast mysql types into native JavaScript -types by default. The following mappings exist: - -### Number - -* TINYINT -* SMALLINT -* INT -* MEDIUMINT -* YEAR -* FLOAT -* DOUBLE - -### Date - -* TIMESTAMP -* DATE -* DATETIME - -### Buffer - -* TINYBLOB -* MEDIUMBLOB -* LONGBLOB -* BLOB -* BINARY -* VARBINARY -* BIT (last byte will be filled with 0 bits as necessary) - -### String - -**Note** text in the binary character set is returned as `Buffer`, rather -than a string. - -* CHAR -* VARCHAR -* TINYTEXT -* MEDIUMTEXT -* LONGTEXT -* TEXT -* ENUM -* SET -* DECIMAL (may exceed float precision) -* BIGINT (may exceed float precision) -* TIME (could be mapped to Date, but what date would be set?) -* GEOMETRY (never used those, get in touch if you do) - -It is not recommended (and may go away / change in the future) to disable type -casting, but you can currently do so on either the connection: - -```js -var connection = require('mysql').createConnection({typeCast: false}); -``` - -Or on the query level: - -```js -var options = {sql: '...', typeCast: false}; -var query = connection.query(options, function (error, results, fields) { - if (error) throw error; - // ... -}); -``` - -### Custom type casting - -You can also pass a function and handle type casting yourself. You're given some -column information like database, table and name and also type and length. If you -just want to apply a custom type casting to a specific type you can do it and then -fallback to the default. - -The function is provided two arguments `field` and `next` and is expected to -return the value for the given field by invoking the parser functions through -the `field` object. - -The `field` argument is a `Field` object and contains data about the field that -need to be parsed. The following are some of the properties on a `Field` object: - - * `db` - a string of the database the field came from. - * `table` - a string of the table the field came from. - * `name` - a string of the field name. - * `type` - a string of the field type in all caps. - * `length` - a number of the field length, as given by the database. - -The `next` argument is a `function` that, when called, will return the default -type conversion for the given field. - -When getting the field data, the following helper methods are present on the -`field` object: - - * `.string()` - parse the field into a string. - * `.buffer()` - parse the field into a `Buffer`. - * `.geometry()` - parse the field as a geometry value. - -The MySQL protocol is a text-based protocol. This means that over the wire, all -field types are represented as a string, which is why only string-like functions -are available on the `field` object. Based on the type information (like `INT`), -the type cast should convert the string field into a different JavaScript type -(like a `number`). - -Here's an example of converting `TINYINT(1)` to boolean: - -```js -connection = mysql.createConnection({ - typeCast: function (field, next) { - if (field.type === 'TINY' && field.length === 1) { - return (field.string() === '1'); // 1 = true, 0 = false - } else { - return next(); - } - } -}); -``` - -__WARNING: YOU MUST INVOKE the parser using one of these three field functions -in your custom typeCast callback. They can only be called once.__ - -## Debugging and reporting problems - -If you are running into problems, one thing that may help is enabling the -`debug` mode for the connection: - -```js -var connection = mysql.createConnection({debug: true}); -``` - -This will print all incoming and outgoing packets on stdout. You can also restrict debugging to -packet types by passing an array of types to debug: - -```js -var connection = mysql.createConnection({debug: ['ComQueryPacket', 'RowDataPacket']}); -``` - -to restrict debugging to the query and data packets. - -If that does not help, feel free to open a GitHub issue. A good GitHub issue -will have: - -* The minimal amount of code required to reproduce the problem (if possible) -* As much debugging output and information about your environment (mysql - version, node version, os, etc.) as you can gather. - -## Security issues - -Security issues should not be first reported through GitHub or another public -forum, but kept private in order for the collaborators to assess the report -and either (a) devise a fix and plan a release date or (b) assert that it is -not a security issue (in which case it can be posted in a public forum, like -a GitHub issue). - -The primary private forum is email, either by emailing the module's author or -opening a GitHub issue simply asking to whom a security issues should be -addressed to without disclosing the issue or type of issue. - -An ideal report would include a clear indication of what the security issue is -and how it would be exploited, ideally with an accompanying proof of concept -("PoC") for collaborators to work against and validate potentional fixes against. - -## Contributing - -This project welcomes contributions from the community. Contributions are -accepted using GitHub pull requests. If you're not familiar with making -GitHub pull requests, please refer to the -[GitHub documentation "Creating a pull request"](https://help.github.com/articles/creating-a-pull-request/). - -For a good pull request, we ask you provide the following: - -1. Try to include a clear description of your pull request in the description. - It should include the basic "what" and "why"s for the request. -2. The tests should pass as best as you can. See the [Running tests](#running-tests) - section on how to run the different tests. GitHub will automatically run - the tests as well, to act as a safety net. -3. The pull request should include tests for the change. A new feature should - have tests for the new feature and bug fixes should include a test that fails - without the corresponding code change and passes after they are applied. - The command `npm run test-cov` will generate a `coverage/` folder that - contains HTML pages of the code coverage, to better understand if everything - you're adding is being tested. -4. If the pull request is a new feature, please be sure to include all - appropriate documentation additions in the `Readme.md` file as well. -5. To help ensure that your code is similar in style to the existing code, - run the command `npm run lint` and fix any displayed issues. - -## Running tests - -The test suite is split into two parts: unit tests and integration tests. -The unit tests run on any machine while the integration tests require a -MySQL server instance to be setup. - -### Running unit tests - -```sh -$ FILTER=unit npm test -``` - -### Running integration tests - -Set the environment variables `MYSQL_DATABASE`, `MYSQL_HOST`, `MYSQL_PORT`, -`MYSQL_USER` and `MYSQL_PASSWORD`. `MYSQL_SOCKET` can also be used in place -of `MYSQL_HOST` and `MYSQL_PORT` to connect over a UNIX socket. Then run -`npm test`. - -For example, if you have an installation of mysql running on localhost:3306 -and no password set for the `root` user, run: - -```sh -$ mysql -u root -e "CREATE DATABASE IF NOT EXISTS node_mysql_test" -$ MYSQL_HOST=localhost MYSQL_PORT=3306 MYSQL_DATABASE=node_mysql_test MYSQL_USER=root MYSQL_PASSWORD= FILTER=integration npm test -``` - -## Todo - -* Prepared statements -* Support for encodings other than UTF-8 / ASCII - -[appveyor-image]: https://badgen.net/appveyor/ci/dougwilson/node-mysql/master?label=windows -[appveyor-url]: https://ci.appveyor.com/project/dougwilson/node-mysql -[coveralls-image]: https://badgen.net/coveralls/c/github/mysqljs/mysql/master -[coveralls-url]: https://coveralls.io/r/mysqljs/mysql?branch=master -[node-image]: https://badgen.net/npm/node/mysql -[node-url]: https://nodejs.org/en/download -[npm-downloads-image]: https://badgen.net/npm/dm/mysql -[npm-url]: https://npmjs.org/package/mysql -[npm-version-image]: https://badgen.net/npm/v/mysql -[travis-image]: https://badgen.net/travis/mysqljs/mysql/master -[travis-url]: https://travis-ci.org/mysqljs/mysql diff --git a/node_modules/mysql/index.js b/node_modules/mysql/index.js deleted file mode 100644 index 7262407..0000000 --- a/node_modules/mysql/index.js +++ /dev/null @@ -1,161 +0,0 @@ -var Classes = Object.create(null); - -/** - * Create a new Connection instance. - * @param {object|string} config Configuration or connection string for new MySQL connection - * @return {Connection} A new MySQL connection - * @public - */ -exports.createConnection = function createConnection(config) { - var Connection = loadClass('Connection'); - var ConnectionConfig = loadClass('ConnectionConfig'); - - return new Connection({config: new ConnectionConfig(config)}); -}; - -/** - * Create a new Pool instance. - * @param {object|string} config Configuration or connection string for new MySQL connections - * @return {Pool} A new MySQL pool - * @public - */ -exports.createPool = function createPool(config) { - var Pool = loadClass('Pool'); - var PoolConfig = loadClass('PoolConfig'); - - return new Pool({config: new PoolConfig(config)}); -}; - -/** - * Create a new PoolCluster instance. - * @param {object} [config] Configuration for pool cluster - * @return {PoolCluster} New MySQL pool cluster - * @public - */ -exports.createPoolCluster = function createPoolCluster(config) { - var PoolCluster = loadClass('PoolCluster'); - - return new PoolCluster(config); -}; - -/** - * Create a new Query instance. - * @param {string} sql The SQL for the query - * @param {array} [values] Any values to insert into placeholders in sql - * @param {function} [callback] The callback to use when query is complete - * @return {Query} New query object - * @public - */ -exports.createQuery = function createQuery(sql, values, callback) { - var Connection = loadClass('Connection'); - - return Connection.createQuery(sql, values, callback); -}; - -/** - * Escape a value for SQL. - * @param {*} value The value to escape - * @param {boolean} [stringifyObjects=false] Setting if objects should be stringified - * @param {string} [timeZone=local] Setting for time zone to use for Date conversion - * @return {string} Escaped string value - * @public - */ -exports.escape = function escape(value, stringifyObjects, timeZone) { - var SqlString = loadClass('SqlString'); - - return SqlString.escape(value, stringifyObjects, timeZone); -}; - -/** - * Escape an identifier for SQL. - * @param {*} value The value to escape - * @param {boolean} [forbidQualified=false] Setting to treat '.' as part of identifier - * @return {string} Escaped string value - * @public - */ -exports.escapeId = function escapeId(value, forbidQualified) { - var SqlString = loadClass('SqlString'); - - return SqlString.escapeId(value, forbidQualified); -}; - -/** - * Format SQL and replacement values into a SQL string. - * @param {string} sql The SQL for the query - * @param {array} [values] Any values to insert into placeholders in sql - * @param {boolean} [stringifyObjects=false] Setting if objects should be stringified - * @param {string} [timeZone=local] Setting for time zone to use for Date conversion - * @return {string} Formatted SQL string - * @public - */ -exports.format = function format(sql, values, stringifyObjects, timeZone) { - var SqlString = loadClass('SqlString'); - - return SqlString.format(sql, values, stringifyObjects, timeZone); -}; - -/** - * Wrap raw SQL strings from escape overriding. - * @param {string} sql The raw SQL - * @return {object} Wrapped object - * @public - */ -exports.raw = function raw(sql) { - var SqlString = loadClass('SqlString'); - - return SqlString.raw(sql); -}; - -/** - * The type constants. - * @public - */ -Object.defineProperty(exports, 'Types', { - get: loadClass.bind(null, 'Types') -}); - -/** - * Load the given class. - * @param {string} className Name of class to default - * @return {function|object} Class constructor or exports - * @private - */ -function loadClass(className) { - var Class = Classes[className]; - - if (Class !== undefined) { - return Class; - } - - // This uses a switch for static require analysis - switch (className) { - case 'Connection': - Class = require('./lib/Connection'); - break; - case 'ConnectionConfig': - Class = require('./lib/ConnectionConfig'); - break; - case 'Pool': - Class = require('./lib/Pool'); - break; - case 'PoolCluster': - Class = require('./lib/PoolCluster'); - break; - case 'PoolConfig': - Class = require('./lib/PoolConfig'); - break; - case 'SqlString': - Class = require('./lib/protocol/SqlString'); - break; - case 'Types': - Class = require('./lib/protocol/constants/types'); - break; - default: - throw new Error('Cannot find class \'' + className + '\''); - } - - // Store to prevent invoking require() - Classes[className] = Class; - - return Class; -} diff --git a/node_modules/mysql/lib/Connection.js b/node_modules/mysql/lib/Connection.js deleted file mode 100644 index 6802255..0000000 --- a/node_modules/mysql/lib/Connection.js +++ /dev/null @@ -1,529 +0,0 @@ -var Crypto = require('crypto'); -var Events = require('events'); -var Net = require('net'); -var tls = require('tls'); -var ConnectionConfig = require('./ConnectionConfig'); -var Protocol = require('./protocol/Protocol'); -var SqlString = require('./protocol/SqlString'); -var Query = require('./protocol/sequences/Query'); -var Util = require('util'); - -module.exports = Connection; -Util.inherits(Connection, Events.EventEmitter); -function Connection(options) { - Events.EventEmitter.call(this); - - this.config = options.config; - - this._socket = options.socket; - this._protocol = new Protocol({config: this.config, connection: this}); - this._connectCalled = false; - this.state = 'disconnected'; - this.threadId = null; -} - -Connection.createQuery = function createQuery(sql, values, callback) { - if (sql instanceof Query) { - return sql; - } - - var cb = callback; - var options = {}; - - if (typeof sql === 'function') { - cb = sql; - } else if (typeof sql === 'object') { - options = Object.create(sql); - - if (typeof values === 'function') { - cb = values; - } else if (values !== undefined) { - Object.defineProperty(options, 'values', { value: values }); - } - } else { - options.sql = sql; - - if (typeof values === 'function') { - cb = values; - } else if (values !== undefined) { - options.values = values; - } - } - - if (cb !== undefined) { - cb = wrapCallbackInDomain(null, cb); - - if (cb === undefined) { - throw new TypeError('argument callback must be a function when provided'); - } - } - - return new Query(options, cb); -}; - -Connection.prototype.connect = function connect(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - if (!this._connectCalled) { - this._connectCalled = true; - - // Connect either via a UNIX domain socket or a TCP socket. - this._socket = (this.config.socketPath) - ? Net.createConnection(this.config.socketPath) - : Net.createConnection(this.config.port, this.config.host); - - // Connect socket to connection domain - if (Events.usingDomains) { - this._socket.domain = this.domain; - } - - var connection = this; - this._protocol.on('data', function(data) { - connection._socket.write(data); - }); - this._socket.on('data', wrapToDomain(connection, function (data) { - connection._protocol.write(data); - })); - this._protocol.on('end', function() { - connection._socket.end(); - }); - this._socket.on('end', wrapToDomain(connection, function () { - connection._protocol.end(); - })); - - this._socket.on('error', this._handleNetworkError.bind(this)); - this._socket.on('connect', this._handleProtocolConnect.bind(this)); - this._protocol.on('handshake', this._handleProtocolHandshake.bind(this)); - this._protocol.on('initialize', this._handleProtocolInitialize.bind(this)); - this._protocol.on('unhandledError', this._handleProtocolError.bind(this)); - this._protocol.on('drain', this._handleProtocolDrain.bind(this)); - this._protocol.on('end', this._handleProtocolEnd.bind(this)); - this._protocol.on('enqueue', this._handleProtocolEnqueue.bind(this)); - - if (this.config.connectTimeout) { - var handleConnectTimeout = this._handleConnectTimeout.bind(this); - - this._socket.setTimeout(this.config.connectTimeout, handleConnectTimeout); - this._socket.once('connect', function() { - this.setTimeout(0, handleConnectTimeout); - }); - } - } - - this._protocol.handshake(options, wrapCallbackInDomain(this, callback)); -}; - -Connection.prototype.changeUser = function changeUser(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - this._implyConnect(); - - var charsetNumber = (options.charset) - ? ConnectionConfig.getCharsetNumber(options.charset) - : this.config.charsetNumber; - - return this._protocol.changeUser({ - user : options.user || this.config.user, - password : options.password || this.config.password, - database : options.database || this.config.database, - timeout : options.timeout, - charsetNumber : charsetNumber, - currentConfig : this.config - }, wrapCallbackInDomain(this, callback)); -}; - -Connection.prototype.beginTransaction = function beginTransaction(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - options = options || {}; - options.sql = 'START TRANSACTION'; - options.values = null; - - return this.query(options, callback); -}; - -Connection.prototype.commit = function commit(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - options = options || {}; - options.sql = 'COMMIT'; - options.values = null; - - return this.query(options, callback); -}; - -Connection.prototype.rollback = function rollback(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - options = options || {}; - options.sql = 'ROLLBACK'; - options.values = null; - - return this.query(options, callback); -}; - -Connection.prototype.query = function query(sql, values, cb) { - var query = Connection.createQuery(sql, values, cb); - query._connection = this; - - if (!(typeof sql === 'object' && 'typeCast' in sql)) { - query.typeCast = this.config.typeCast; - } - - if (query.sql) { - query.sql = this.format(query.sql, query.values); - } - - if (query._callback) { - query._callback = wrapCallbackInDomain(this, query._callback); - } - - this._implyConnect(); - - return this._protocol._enqueue(query); -}; - -Connection.prototype.ping = function ping(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - this._implyConnect(); - this._protocol.ping(options, wrapCallbackInDomain(this, callback)); -}; - -Connection.prototype.statistics = function statistics(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - this._implyConnect(); - this._protocol.stats(options, wrapCallbackInDomain(this, callback)); -}; - -Connection.prototype.end = function end(options, callback) { - var cb = callback; - var opts = options; - - if (!callback && typeof options === 'function') { - cb = options; - opts = null; - } - - // create custom options reference - opts = Object.create(opts || null); - - if (opts.timeout === undefined) { - // default timeout of 30 seconds - opts.timeout = 30000; - } - - this._implyConnect(); - this._protocol.quit(opts, wrapCallbackInDomain(this, cb)); -}; - -Connection.prototype.destroy = function() { - this.state = 'disconnected'; - this._implyConnect(); - this._socket.destroy(); - this._protocol.destroy(); -}; - -Connection.prototype.pause = function() { - this._socket.pause(); - this._protocol.pause(); -}; - -Connection.prototype.resume = function() { - this._socket.resume(); - this._protocol.resume(); -}; - -Connection.prototype.escape = function(value) { - return SqlString.escape(value, false, this.config.timezone); -}; - -Connection.prototype.escapeId = function escapeId(value) { - return SqlString.escapeId(value, false); -}; - -Connection.prototype.format = function(sql, values) { - if (typeof this.config.queryFormat === 'function') { - return this.config.queryFormat.call(this, sql, values, this.config.timezone); - } - return SqlString.format(sql, values, this.config.stringifyObjects, this.config.timezone); -}; - -if (tls.TLSSocket) { - // 0.11+ environment - Connection.prototype._startTLS = function _startTLS(onSecure) { - var connection = this; - - createSecureContext(this.config, function (err, secureContext) { - if (err) { - onSecure(err); - return; - } - - // "unpipe" - connection._socket.removeAllListeners('data'); - connection._protocol.removeAllListeners('data'); - - // socket <-> encrypted - var rejectUnauthorized = connection.config.ssl.rejectUnauthorized; - var secureEstablished = false; - var secureSocket = new tls.TLSSocket(connection._socket, { - rejectUnauthorized : rejectUnauthorized, - requestCert : true, - secureContext : secureContext, - isServer : false - }); - - // error handler for secure socket - secureSocket.on('_tlsError', function(err) { - if (secureEstablished) { - connection._handleNetworkError(err); - } else { - onSecure(err); - } - }); - - // cleartext <-> protocol - secureSocket.pipe(connection._protocol); - connection._protocol.on('data', function(data) { - secureSocket.write(data); - }); - - secureSocket.on('secure', function() { - secureEstablished = true; - - onSecure(rejectUnauthorized ? this.ssl.verifyError() : null); - }); - - // start TLS communications - secureSocket._start(); - }); - }; -} else { - // pre-0.11 environment - Connection.prototype._startTLS = function _startTLS(onSecure) { - // before TLS: - // _socket <-> _protocol - // after: - // _socket <-> securePair.encrypted <-> securePair.cleartext <-> _protocol - - var connection = this; - var credentials = Crypto.createCredentials({ - ca : this.config.ssl.ca, - cert : this.config.ssl.cert, - ciphers : this.config.ssl.ciphers, - key : this.config.ssl.key, - passphrase : this.config.ssl.passphrase - }); - - var rejectUnauthorized = this.config.ssl.rejectUnauthorized; - var secureEstablished = false; - var securePair = tls.createSecurePair(credentials, false, true, rejectUnauthorized); - - // error handler for secure pair - securePair.on('error', function(err) { - if (secureEstablished) { - connection._handleNetworkError(err); - } else { - onSecure(err); - } - }); - - // "unpipe" - this._socket.removeAllListeners('data'); - this._protocol.removeAllListeners('data'); - - // socket <-> encrypted - securePair.encrypted.pipe(this._socket); - this._socket.on('data', function(data) { - securePair.encrypted.write(data); - }); - - // cleartext <-> protocol - securePair.cleartext.pipe(this._protocol); - this._protocol.on('data', function(data) { - securePair.cleartext.write(data); - }); - - // secure established - securePair.on('secure', function() { - secureEstablished = true; - - if (!rejectUnauthorized) { - onSecure(); - return; - } - - var verifyError = this.ssl.verifyError(); - var err = verifyError; - - // node.js 0.6 support - if (typeof err === 'string') { - err = new Error(verifyError); - err.code = verifyError; - } - - onSecure(err); - }); - - // node.js 0.8 bug - securePair._cycle = securePair.cycle; - securePair.cycle = function cycle() { - if (this.ssl && this.ssl.error) { - this.error(); - } - - return this._cycle.apply(this, arguments); - }; - }; -} - -Connection.prototype._handleConnectTimeout = function() { - if (this._socket) { - this._socket.setTimeout(0); - this._socket.destroy(); - } - - var err = new Error('connect ETIMEDOUT'); - err.errorno = 'ETIMEDOUT'; - err.code = 'ETIMEDOUT'; - err.syscall = 'connect'; - - this._handleNetworkError(err); -}; - -Connection.prototype._handleNetworkError = function(err) { - this._protocol.handleNetworkError(err); -}; - -Connection.prototype._handleProtocolError = function(err) { - this.state = 'protocol_error'; - this.emit('error', err); -}; - -Connection.prototype._handleProtocolDrain = function() { - this.emit('drain'); -}; - -Connection.prototype._handleProtocolConnect = function() { - this.state = 'connected'; - this.emit('connect'); -}; - -Connection.prototype._handleProtocolHandshake = function _handleProtocolHandshake() { - this.state = 'authenticated'; -}; - -Connection.prototype._handleProtocolInitialize = function _handleProtocolInitialize(packet) { - this.threadId = packet.threadId; -}; - -Connection.prototype._handleProtocolEnd = function(err) { - this.state = 'disconnected'; - this.emit('end', err); -}; - -Connection.prototype._handleProtocolEnqueue = function _handleProtocolEnqueue(sequence) { - this.emit('enqueue', sequence); -}; - -Connection.prototype._implyConnect = function() { - if (!this._connectCalled) { - this.connect(); - } -}; - -function createSecureContext (config, cb) { - var context = null; - var error = null; - - try { - context = tls.createSecureContext({ - ca : config.ssl.ca, - cert : config.ssl.cert, - ciphers : config.ssl.ciphers, - key : config.ssl.key, - passphrase : config.ssl.passphrase - }); - } catch (err) { - error = err; - } - - cb(error, context); -} - -function unwrapFromDomain(fn) { - return function () { - var domains = []; - var ret; - - while (process.domain) { - domains.shift(process.domain); - process.domain.exit(); - } - - try { - ret = fn.apply(this, arguments); - } finally { - for (var i = 0; i < domains.length; i++) { - domains[i].enter(); - } - } - - return ret; - }; -} - -function wrapCallbackInDomain(ee, fn) { - if (typeof fn !== 'function') { - return undefined; - } - - if (fn.domain) { - return fn; - } - - var domain = process.domain; - - if (domain) { - return domain.bind(fn); - } else if (ee) { - return unwrapFromDomain(wrapToDomain(ee, fn)); - } else { - return fn; - } -} - -function wrapToDomain(ee, fn) { - return function () { - if (Events.usingDomains && ee.domain) { - ee.domain.enter(); - fn.apply(this, arguments); - ee.domain.exit(); - } else { - fn.apply(this, arguments); - } - }; -} diff --git a/node_modules/mysql/lib/ConnectionConfig.js b/node_modules/mysql/lib/ConnectionConfig.js deleted file mode 100644 index 06f4399..0000000 --- a/node_modules/mysql/lib/ConnectionConfig.js +++ /dev/null @@ -1,209 +0,0 @@ -var urlParse = require('url').parse; -var ClientConstants = require('./protocol/constants/client'); -var Charsets = require('./protocol/constants/charsets'); -var SSLProfiles = null; - -module.exports = ConnectionConfig; -function ConnectionConfig(options) { - if (typeof options === 'string') { - options = ConnectionConfig.parseUrl(options); - } - - this.host = options.host || 'localhost'; - this.port = options.port || 3306; - this.localAddress = options.localAddress; - this.socketPath = options.socketPath; - this.user = options.user || undefined; - this.password = options.password || undefined; - this.database = options.database; - this.connectTimeout = (options.connectTimeout === undefined) - ? (10 * 1000) - : options.connectTimeout; - this.insecureAuth = options.insecureAuth || false; - this.supportBigNumbers = options.supportBigNumbers || false; - this.bigNumberStrings = options.bigNumberStrings || false; - this.dateStrings = options.dateStrings || false; - this.debug = options.debug; - this.trace = options.trace !== false; - this.stringifyObjects = options.stringifyObjects || false; - this.timezone = options.timezone || 'local'; - this.flags = options.flags || ''; - this.queryFormat = options.queryFormat; - this.pool = options.pool || undefined; - this.ssl = (typeof options.ssl === 'string') - ? ConnectionConfig.getSSLProfile(options.ssl) - : (options.ssl || false); - this.localInfile = (options.localInfile === undefined) - ? true - : options.localInfile; - this.multipleStatements = options.multipleStatements || false; - this.typeCast = (options.typeCast === undefined) - ? true - : options.typeCast; - - if (this.timezone[0] === ' ') { - // "+" is a url encoded char for space so it - // gets translated to space when giving a - // connection string.. - this.timezone = '+' + this.timezone.substr(1); - } - - if (this.ssl) { - // Default rejectUnauthorized to true - this.ssl.rejectUnauthorized = this.ssl.rejectUnauthorized !== false; - } - - this.maxPacketSize = 0; - this.charsetNumber = (options.charset) - ? ConnectionConfig.getCharsetNumber(options.charset) - : options.charsetNumber || Charsets.UTF8_GENERAL_CI; - - // Set the client flags - var defaultFlags = ConnectionConfig.getDefaultFlags(options); - this.clientFlags = ConnectionConfig.mergeFlags(defaultFlags, options.flags); -} - -ConnectionConfig.mergeFlags = function mergeFlags(defaultFlags, userFlags) { - var allFlags = ConnectionConfig.parseFlagList(defaultFlags); - var newFlags = ConnectionConfig.parseFlagList(userFlags); - - // Merge the new flags - for (var flag in newFlags) { - if (allFlags[flag] !== false) { - allFlags[flag] = newFlags[flag]; - } - } - - // Build flags - var flags = 0x0; - for (var flag in allFlags) { - if (allFlags[flag]) { - // TODO: Throw here on some future release - flags |= ClientConstants['CLIENT_' + flag] || 0x0; - } - } - - return flags; -}; - -ConnectionConfig.getCharsetNumber = function getCharsetNumber(charset) { - var num = Charsets[charset.toUpperCase()]; - - if (num === undefined) { - throw new TypeError('Unknown charset \'' + charset + '\''); - } - - return num; -}; - -ConnectionConfig.getDefaultFlags = function getDefaultFlags(options) { - var defaultFlags = [ - '-COMPRESS', // Compression protocol *NOT* supported - '-CONNECT_ATTRS', // Does *NOT* send connection attributes in Protocol::HandshakeResponse41 - '+CONNECT_WITH_DB', // One can specify db on connect in Handshake Response Packet - '+FOUND_ROWS', // Send found rows instead of affected rows - '+IGNORE_SIGPIPE', // Don't issue SIGPIPE if network failures - '+IGNORE_SPACE', // Let the parser ignore spaces before '(' - '+LOCAL_FILES', // Can use LOAD DATA LOCAL - '+LONG_FLAG', // Longer flags in Protocol::ColumnDefinition320 - '+LONG_PASSWORD', // Use the improved version of Old Password Authentication - '+MULTI_RESULTS', // Can handle multiple resultsets for COM_QUERY - '+ODBC', // Special handling of ODBC behaviour - '-PLUGIN_AUTH', // Does *NOT* support auth plugins - '+PROTOCOL_41', // Uses the 4.1 protocol - '+PS_MULTI_RESULTS', // Can handle multiple resultsets for COM_STMT_EXECUTE - '+RESERVED', // Unused - '+SECURE_CONNECTION', // Supports Authentication::Native41 - '+TRANSACTIONS' // Expects status flags - ]; - - if (options && options.localInfile !== undefined && !options.localInfile) { - // Disable LOCAL modifier for LOAD DATA INFILE - defaultFlags.push('-LOCAL_FILES'); - } - - if (options && options.multipleStatements) { - // May send multiple statements per COM_QUERY and COM_STMT_PREPARE - defaultFlags.push('+MULTI_STATEMENTS'); - } - - return defaultFlags; -}; - -ConnectionConfig.getSSLProfile = function getSSLProfile(name) { - if (!SSLProfiles) { - SSLProfiles = require('./protocol/constants/ssl_profiles'); - } - - var ssl = SSLProfiles[name]; - - if (ssl === undefined) { - throw new TypeError('Unknown SSL profile \'' + name + '\''); - } - - return ssl; -}; - -ConnectionConfig.parseFlagList = function parseFlagList(flagList) { - var allFlags = Object.create(null); - - if (!flagList) { - return allFlags; - } - - var flags = !Array.isArray(flagList) - ? String(flagList || '').toUpperCase().split(/\s*,+\s*/) - : flagList; - - for (var i = 0; i < flags.length; i++) { - var flag = flags[i]; - var offset = 1; - var state = flag[0]; - - if (state === undefined) { - // TODO: throw here on some future release - continue; - } - - if (state !== '-' && state !== '+') { - offset = 0; - state = '+'; - } - - allFlags[flag.substr(offset)] = state === '+'; - } - - return allFlags; -}; - -ConnectionConfig.parseUrl = function(url) { - url = urlParse(url, true); - - var options = { - host : url.hostname, - port : url.port, - database : url.pathname.substr(1) - }; - - if (url.auth) { - var auth = url.auth.split(':'); - options.user = auth.shift(); - options.password = auth.join(':'); - } - - if (url.query) { - for (var key in url.query) { - var value = url.query[key]; - - try { - // Try to parse this as a JSON expression first - options[key] = JSON.parse(value); - } catch (err) { - // Otherwise assume it is a plain string - options[key] = value; - } - } - } - - return options; -}; diff --git a/node_modules/mysql/lib/Pool.js b/node_modules/mysql/lib/Pool.js deleted file mode 100644 index 87a4011..0000000 --- a/node_modules/mysql/lib/Pool.js +++ /dev/null @@ -1,294 +0,0 @@ -var mysql = require('../'); -var Connection = require('./Connection'); -var EventEmitter = require('events').EventEmitter; -var Util = require('util'); -var PoolConnection = require('./PoolConnection'); - -module.exports = Pool; - -Util.inherits(Pool, EventEmitter); -function Pool(options) { - EventEmitter.call(this); - this.config = options.config; - this.config.connectionConfig.pool = this; - - this._acquiringConnections = []; - this._allConnections = []; - this._freeConnections = []; - this._connectionQueue = []; - this._closed = false; -} - -Pool.prototype.getConnection = function (cb) { - - if (this._closed) { - var err = new Error('Pool is closed.'); - err.code = 'POOL_CLOSED'; - process.nextTick(function () { - cb(err); - }); - return; - } - - var connection; - var pool = this; - - if (this._freeConnections.length > 0) { - connection = this._freeConnections.shift(); - this.acquireConnection(connection, cb); - return; - } - - if (this.config.connectionLimit === 0 || this._allConnections.length < this.config.connectionLimit) { - connection = new PoolConnection(this, { config: this.config.newConnectionConfig() }); - - this._acquiringConnections.push(connection); - this._allConnections.push(connection); - - connection.connect({timeout: this.config.acquireTimeout}, function onConnect(err) { - spliceConnection(pool._acquiringConnections, connection); - - if (pool._closed) { - err = new Error('Pool is closed.'); - err.code = 'POOL_CLOSED'; - } - - if (err) { - pool._purgeConnection(connection); - cb(err); - return; - } - - pool.emit('connection', connection); - pool.emit('acquire', connection); - cb(null, connection); - }); - return; - } - - if (!this.config.waitForConnections) { - process.nextTick(function(){ - var err = new Error('No connections available.'); - err.code = 'POOL_CONNLIMIT'; - cb(err); - }); - return; - } - - this._enqueueCallback(cb); -}; - -Pool.prototype.acquireConnection = function acquireConnection(connection, cb) { - if (connection._pool !== this) { - throw new Error('Connection acquired from wrong pool.'); - } - - var changeUser = this._needsChangeUser(connection); - var pool = this; - - this._acquiringConnections.push(connection); - - function onOperationComplete(err) { - spliceConnection(pool._acquiringConnections, connection); - - if (pool._closed) { - err = new Error('Pool is closed.'); - err.code = 'POOL_CLOSED'; - } - - if (err) { - pool._connectionQueue.unshift(cb); - pool._purgeConnection(connection); - return; - } - - if (changeUser) { - pool.emit('connection', connection); - } - - pool.emit('acquire', connection); - cb(null, connection); - } - - if (changeUser) { - // restore user back to pool configuration - connection.config = this.config.newConnectionConfig(); - connection.changeUser({timeout: this.config.acquireTimeout}, onOperationComplete); - } else { - // ping connection - connection.ping({timeout: this.config.acquireTimeout}, onOperationComplete); - } -}; - -Pool.prototype.releaseConnection = function releaseConnection(connection) { - - if (this._acquiringConnections.indexOf(connection) !== -1) { - // connection is being acquired - return; - } - - if (connection._pool) { - if (connection._pool !== this) { - throw new Error('Connection released to wrong pool'); - } - - if (this._freeConnections.indexOf(connection) !== -1) { - // connection already in free connection pool - // this won't catch all double-release cases - throw new Error('Connection already released'); - } else { - // add connection to end of free queue - this._freeConnections.push(connection); - this.emit('release', connection); - } - } - - if (this._closed) { - // empty the connection queue - this._connectionQueue.splice(0).forEach(function (cb) { - var err = new Error('Pool is closed.'); - err.code = 'POOL_CLOSED'; - process.nextTick(function () { - cb(err); - }); - }); - } else if (this._connectionQueue.length) { - // get connection with next waiting callback - this.getConnection(this._connectionQueue.shift()); - } -}; - -Pool.prototype.end = function (cb) { - this._closed = true; - - if (typeof cb !== 'function') { - cb = function (err) { - if (err) throw err; - }; - } - - var calledBack = false; - var waitingClose = 0; - - function onEnd(err) { - if (!calledBack && (err || --waitingClose <= 0)) { - calledBack = true; - cb(err); - } - } - - while (this._allConnections.length !== 0) { - waitingClose++; - this._purgeConnection(this._allConnections[0], onEnd); - } - - if (waitingClose === 0) { - process.nextTick(onEnd); - } -}; - -Pool.prototype.query = function (sql, values, cb) { - var query = Connection.createQuery(sql, values, cb); - - if (!(typeof sql === 'object' && 'typeCast' in sql)) { - query.typeCast = this.config.connectionConfig.typeCast; - } - - if (this.config.connectionConfig.trace) { - // Long stack trace support - query._callSite = new Error(); - } - - this.getConnection(function (err, conn) { - if (err) { - query.on('error', function () {}); - query.end(err); - return; - } - - // Release connection based off event - query.once('end', function() { - conn.release(); - }); - - conn.query(query); - }); - - return query; -}; - -Pool.prototype._enqueueCallback = function _enqueueCallback(callback) { - - if (this.config.queueLimit && this._connectionQueue.length >= this.config.queueLimit) { - process.nextTick(function () { - var err = new Error('Queue limit reached.'); - err.code = 'POOL_ENQUEUELIMIT'; - callback(err); - }); - return; - } - - // Bind to domain, as dequeue will likely occur in a different domain - var cb = process.domain - ? process.domain.bind(callback) - : callback; - - this._connectionQueue.push(cb); - this.emit('enqueue'); -}; - -Pool.prototype._needsChangeUser = function _needsChangeUser(connection) { - var connConfig = connection.config; - var poolConfig = this.config.connectionConfig; - - // check if changeUser values are different - return connConfig.user !== poolConfig.user - || connConfig.database !== poolConfig.database - || connConfig.password !== poolConfig.password - || connConfig.charsetNumber !== poolConfig.charsetNumber; -}; - -Pool.prototype._purgeConnection = function _purgeConnection(connection, callback) { - var cb = callback || function () {}; - - if (connection.state === 'disconnected') { - connection.destroy(); - } - - this._removeConnection(connection); - - if (connection.state !== 'disconnected' && !connection._protocol._quitSequence) { - connection._realEnd(cb); - return; - } - - process.nextTick(cb); -}; - -Pool.prototype._removeConnection = function(connection) { - connection._pool = null; - - // Remove connection from all connections - spliceConnection(this._allConnections, connection); - - // Remove connection from free connections - spliceConnection(this._freeConnections, connection); - - this.releaseConnection(connection); -}; - -Pool.prototype.escape = function(value) { - return mysql.escape(value, this.config.connectionConfig.stringifyObjects, this.config.connectionConfig.timezone); -}; - -Pool.prototype.escapeId = function escapeId(value) { - return mysql.escapeId(value, false); -}; - -function spliceConnection(array, connection) { - var index; - if ((index = array.indexOf(connection)) !== -1) { - // Remove connection from all connections - array.splice(index, 1); - } -} diff --git a/node_modules/mysql/lib/PoolCluster.js b/node_modules/mysql/lib/PoolCluster.js deleted file mode 100644 index d0aed2c..0000000 --- a/node_modules/mysql/lib/PoolCluster.js +++ /dev/null @@ -1,288 +0,0 @@ -var Pool = require('./Pool'); -var PoolConfig = require('./PoolConfig'); -var PoolNamespace = require('./PoolNamespace'); -var PoolSelector = require('./PoolSelector'); -var Util = require('util'); -var EventEmitter = require('events').EventEmitter; - -module.exports = PoolCluster; - -/** - * PoolCluster - * @constructor - * @param {object} [config] The pool cluster configuration - * @public - */ -function PoolCluster(config) { - EventEmitter.call(this); - - config = config || {}; - this._canRetry = typeof config.canRetry === 'undefined' ? true : config.canRetry; - this._defaultSelector = config.defaultSelector || 'RR'; - this._removeNodeErrorCount = config.removeNodeErrorCount || 5; - this._restoreNodeTimeout = config.restoreNodeTimeout || 0; - - this._closed = false; - this._findCaches = Object.create(null); - this._lastId = 0; - this._namespaces = Object.create(null); - this._nodes = Object.create(null); -} - -Util.inherits(PoolCluster, EventEmitter); - -PoolCluster.prototype.add = function add(id, config) { - if (this._closed) { - throw new Error('PoolCluster is closed.'); - } - - var nodeId = typeof id === 'object' - ? 'CLUSTER::' + (++this._lastId) - : String(id); - - if (this._nodes[nodeId] !== undefined) { - throw new Error('Node ID "' + nodeId + '" is already defined in PoolCluster.'); - } - - var poolConfig = typeof id !== 'object' - ? new PoolConfig(config) - : new PoolConfig(id); - - this._nodes[nodeId] = { - id : nodeId, - errorCount : 0, - pool : new Pool({config: poolConfig}), - _offlineUntil : 0 - }; - - this._clearFindCaches(); -}; - -PoolCluster.prototype.end = function end(callback) { - var cb = callback !== undefined - ? callback - : _cb; - - if (typeof cb !== 'function') { - throw TypeError('callback argument must be a function'); - } - - if (this._closed) { - process.nextTick(cb); - return; - } - - this._closed = true; - - var calledBack = false; - var nodeIds = Object.keys(this._nodes); - var waitingClose = 0; - - function onEnd(err) { - if (!calledBack && (err || --waitingClose <= 0)) { - calledBack = true; - cb(err); - } - } - - for (var i = 0; i < nodeIds.length; i++) { - var nodeId = nodeIds[i]; - var node = this._nodes[nodeId]; - - waitingClose++; - node.pool.end(onEnd); - } - - if (waitingClose === 0) { - process.nextTick(onEnd); - } -}; - -PoolCluster.prototype.of = function(pattern, selector) { - pattern = pattern || '*'; - - selector = selector || this._defaultSelector; - selector = selector.toUpperCase(); - if (typeof PoolSelector[selector] === 'undefined') { - selector = this._defaultSelector; - } - - var key = pattern + selector; - - if (typeof this._namespaces[key] === 'undefined') { - this._namespaces[key] = new PoolNamespace(this, pattern, selector); - } - - return this._namespaces[key]; -}; - -PoolCluster.prototype.remove = function remove(pattern) { - var foundNodeIds = this._findNodeIds(pattern, true); - - for (var i = 0; i < foundNodeIds.length; i++) { - var node = this._getNode(foundNodeIds[i]); - - if (node) { - this._removeNode(node); - } - } -}; - -PoolCluster.prototype.getConnection = function(pattern, selector, cb) { - var namespace; - if (typeof pattern === 'function') { - cb = pattern; - namespace = this.of(); - } else { - if (typeof selector === 'function') { - cb = selector; - selector = this._defaultSelector; - } - - namespace = this.of(pattern, selector); - } - - namespace.getConnection(cb); -}; - -PoolCluster.prototype._clearFindCaches = function _clearFindCaches() { - this._findCaches = Object.create(null); -}; - -PoolCluster.prototype._decreaseErrorCount = function _decreaseErrorCount(node) { - var errorCount = node.errorCount; - - if (errorCount > this._removeNodeErrorCount) { - errorCount = this._removeNodeErrorCount; - } - - if (errorCount < 1) { - errorCount = 1; - } - - node.errorCount = errorCount - 1; - - if (node._offlineUntil) { - node._offlineUntil = 0; - this.emit('online', node.id); - } -}; - -PoolCluster.prototype._findNodeIds = function _findNodeIds(pattern, includeOffline) { - var currentTime = 0; - var foundNodeIds = this._findCaches[pattern]; - - if (foundNodeIds === undefined) { - var expression = patternRegExp(pattern); - var nodeIds = Object.keys(this._nodes); - - foundNodeIds = nodeIds.filter(function (id) { - return id.match(expression); - }); - - this._findCaches[pattern] = foundNodeIds; - } - - if (includeOffline) { - return foundNodeIds; - } - - return foundNodeIds.filter(function (nodeId) { - var node = this._getNode(nodeId); - - if (!node._offlineUntil) { - return true; - } - - if (!currentTime) { - currentTime = getMonotonicMilliseconds(); - } - - return node._offlineUntil <= currentTime; - }, this); -}; - -PoolCluster.prototype._getNode = function _getNode(id) { - return this._nodes[id] || null; -}; - -PoolCluster.prototype._increaseErrorCount = function _increaseErrorCount(node) { - var errorCount = ++node.errorCount; - - if (this._removeNodeErrorCount > errorCount) { - return; - } - - if (this._restoreNodeTimeout > 0) { - node._offlineUntil = getMonotonicMilliseconds() + this._restoreNodeTimeout; - this.emit('offline', node.id); - return; - } - - this._removeNode(node); - this.emit('remove', node.id); -}; - -PoolCluster.prototype._getConnection = function(node, cb) { - var self = this; - - node.pool.getConnection(function (err, connection) { - if (err) { - self._increaseErrorCount(node); - cb(err); - return; - } else { - self._decreaseErrorCount(node); - } - - connection._clusterId = node.id; - - cb(null, connection); - }); -}; - -PoolCluster.prototype._removeNode = function _removeNode(node) { - delete this._nodes[node.id]; - - this._clearFindCaches(); - - node.pool.end(_noop); -}; - -function getMonotonicMilliseconds() { - var ms; - - if (typeof process.hrtime === 'function') { - ms = process.hrtime(); - ms = ms[0] * 1e3 + ms[1] * 1e-6; - } else { - ms = process.uptime() * 1000; - } - - return Math.floor(ms); -} - -function isRegExp(val) { - return typeof val === 'object' - && Object.prototype.toString.call(val) === '[object RegExp]'; -} - -function patternRegExp(pattern) { - if (isRegExp(pattern)) { - return pattern; - } - - var source = pattern - .replace(/([.+?^=!:${}()|\[\]\/\\])/g, '\\$1') - .replace(/\*/g, '.*'); - - return new RegExp('^' + source + '$'); -} - -function _cb(err) { - if (err) { - throw err; - } -} - -function _noop() {} diff --git a/node_modules/mysql/lib/PoolConfig.js b/node_modules/mysql/lib/PoolConfig.js deleted file mode 100644 index 8c5017a..0000000 --- a/node_modules/mysql/lib/PoolConfig.js +++ /dev/null @@ -1,32 +0,0 @@ - -var ConnectionConfig = require('./ConnectionConfig'); - -module.exports = PoolConfig; -function PoolConfig(options) { - if (typeof options === 'string') { - options = ConnectionConfig.parseUrl(options); - } - - this.acquireTimeout = (options.acquireTimeout === undefined) - ? 10 * 1000 - : Number(options.acquireTimeout); - this.connectionConfig = new ConnectionConfig(options); - this.waitForConnections = (options.waitForConnections === undefined) - ? true - : Boolean(options.waitForConnections); - this.connectionLimit = (options.connectionLimit === undefined) - ? 10 - : Number(options.connectionLimit); - this.queueLimit = (options.queueLimit === undefined) - ? 0 - : Number(options.queueLimit); -} - -PoolConfig.prototype.newConnectionConfig = function newConnectionConfig() { - var connectionConfig = new ConnectionConfig(this.connectionConfig); - - connectionConfig.clientFlags = this.connectionConfig.clientFlags; - connectionConfig.maxPacketSize = this.connectionConfig.maxPacketSize; - - return connectionConfig; -}; diff --git a/node_modules/mysql/lib/PoolConnection.js b/node_modules/mysql/lib/PoolConnection.js deleted file mode 100644 index 064c99d..0000000 --- a/node_modules/mysql/lib/PoolConnection.js +++ /dev/null @@ -1,65 +0,0 @@ -var inherits = require('util').inherits; -var Connection = require('./Connection'); -var Events = require('events'); - -module.exports = PoolConnection; -inherits(PoolConnection, Connection); - -function PoolConnection(pool, options) { - Connection.call(this, options); - this._pool = pool; - - // Bind connection to pool domain - if (Events.usingDomains) { - this.domain = pool.domain; - } - - // When a fatal error occurs the connection's protocol ends, which will cause - // the connection to end as well, thus we only need to watch for the end event - // and we will be notified of disconnects. - this.on('end', this._removeFromPool); - this.on('error', function (err) { - if (err.fatal) { - this._removeFromPool(); - } - }); -} - -PoolConnection.prototype.release = function release() { - var pool = this._pool; - - if (!pool || pool._closed) { - return undefined; - } - - return pool.releaseConnection(this); -}; - -// TODO: Remove this when we are removing PoolConnection#end -PoolConnection.prototype._realEnd = Connection.prototype.end; - -PoolConnection.prototype.end = function () { - console.warn( - 'Calling conn.end() to release a pooled connection is ' + - 'deprecated. In next version calling conn.end() will be ' + - 'restored to default conn.end() behavior. Use ' + - 'conn.release() instead.' - ); - this.release(); -}; - -PoolConnection.prototype.destroy = function () { - Connection.prototype.destroy.apply(this, arguments); - this._removeFromPool(this); -}; - -PoolConnection.prototype._removeFromPool = function _removeFromPool() { - if (!this._pool || this._pool._closed) { - return; - } - - var pool = this._pool; - this._pool = null; - - pool._purgeConnection(this); -}; diff --git a/node_modules/mysql/lib/PoolNamespace.js b/node_modules/mysql/lib/PoolNamespace.js deleted file mode 100644 index d3ea786..0000000 --- a/node_modules/mysql/lib/PoolNamespace.js +++ /dev/null @@ -1,136 +0,0 @@ -var Connection = require('./Connection'); -var PoolSelector = require('./PoolSelector'); - -module.exports = PoolNamespace; - -/** - * PoolNamespace - * @constructor - * @param {PoolCluster} cluster The parent cluster for the namespace - * @param {string} pattern The selection pattern to use - * @param {string} selector The selector name to use - * @public - */ -function PoolNamespace(cluster, pattern, selector) { - this._cluster = cluster; - this._pattern = pattern; - this._selector = new PoolSelector[selector](); -} - -PoolNamespace.prototype.getConnection = function(cb) { - var clusterNode = this._getClusterNode(); - var cluster = this._cluster; - var namespace = this; - - if (clusterNode === null) { - var err = null; - - if (this._cluster._findNodeIds(this._pattern, true).length !== 0) { - err = new Error('Pool does not have online node.'); - err.code = 'POOL_NONEONLINE'; - } else { - err = new Error('Pool does not exist.'); - err.code = 'POOL_NOEXIST'; - } - - cb(err); - return; - } - - cluster._getConnection(clusterNode, function(err, connection) { - var retry = err && cluster._canRetry - && cluster._findNodeIds(namespace._pattern).length !== 0; - - if (retry) { - namespace.getConnection(cb); - return; - } - - if (err) { - cb(err); - return; - } - - cb(null, connection); - }); -}; - -PoolNamespace.prototype.query = function (sql, values, cb) { - var cluster = this._cluster; - var clusterNode = this._getClusterNode(); - var query = Connection.createQuery(sql, values, cb); - var namespace = this; - - if (clusterNode === null) { - var err = null; - - if (this._cluster._findNodeIds(this._pattern, true).length !== 0) { - err = new Error('Pool does not have online node.'); - err.code = 'POOL_NONEONLINE'; - } else { - err = new Error('Pool does not exist.'); - err.code = 'POOL_NOEXIST'; - } - - process.nextTick(function () { - query.on('error', function () {}); - query.end(err); - }); - return query; - } - - if (!(typeof sql === 'object' && 'typeCast' in sql)) { - query.typeCast = clusterNode.pool.config.connectionConfig.typeCast; - } - - if (clusterNode.pool.config.connectionConfig.trace) { - // Long stack trace support - query._callSite = new Error(); - } - - cluster._getConnection(clusterNode, function (err, conn) { - var retry = err && cluster._canRetry - && cluster._findNodeIds(namespace._pattern).length !== 0; - - if (retry) { - namespace.query(query); - return; - } - - if (err) { - query.on('error', function () {}); - query.end(err); - return; - } - - // Release connection based off event - query.once('end', function() { - conn.release(); - }); - - conn.query(query); - }); - - return query; -}; - -PoolNamespace.prototype._getClusterNode = function _getClusterNode() { - var foundNodeIds = this._cluster._findNodeIds(this._pattern); - var nodeId; - - switch (foundNodeIds.length) { - case 0: - nodeId = null; - break; - case 1: - nodeId = foundNodeIds[0]; - break; - default: - nodeId = this._selector(foundNodeIds); - break; - } - - return nodeId !== null - ? this._cluster._getNode(nodeId) - : null; -}; diff --git a/node_modules/mysql/lib/PoolSelector.js b/node_modules/mysql/lib/PoolSelector.js deleted file mode 100644 index 9a3c455..0000000 --- a/node_modules/mysql/lib/PoolSelector.js +++ /dev/null @@ -1,31 +0,0 @@ - -/** - * PoolSelector - */ -var PoolSelector = module.exports = {}; - -PoolSelector.RR = function PoolSelectorRoundRobin() { - var index = 0; - - return function(clusterIds) { - if (index >= clusterIds.length) { - index = 0; - } - - var clusterId = clusterIds[index++]; - - return clusterId; - }; -}; - -PoolSelector.RANDOM = function PoolSelectorRandom() { - return function(clusterIds) { - return clusterIds[Math.floor(Math.random() * clusterIds.length)]; - }; -}; - -PoolSelector.ORDER = function PoolSelectorOrder() { - return function(clusterIds) { - return clusterIds[0]; - }; -}; diff --git a/node_modules/mysql/lib/protocol/Auth.js b/node_modules/mysql/lib/protocol/Auth.js deleted file mode 100644 index a1033d1..0000000 --- a/node_modules/mysql/lib/protocol/Auth.js +++ /dev/null @@ -1,168 +0,0 @@ -var Buffer = require('safe-buffer').Buffer; -var Crypto = require('crypto'); -var Auth = exports; - -function auth(name, data, options) { - options = options || {}; - - switch (name) { - case 'mysql_native_password': - return Auth.token(options.password, data.slice(0, 20)); - default: - return undefined; - } -} -Auth.auth = auth; - -function sha1(msg) { - var hash = Crypto.createHash('sha1'); - hash.update(msg, 'binary'); - return hash.digest('binary'); -} -Auth.sha1 = sha1; - -function xor(a, b) { - a = Buffer.from(a, 'binary'); - b = Buffer.from(b, 'binary'); - var result = Buffer.allocUnsafe(a.length); - for (var i = 0; i < a.length; i++) { - result[i] = (a[i] ^ b[i]); - } - return result; -} -Auth.xor = xor; - -Auth.token = function(password, scramble) { - if (!password) { - return Buffer.alloc(0); - } - - // password must be in binary format, not utf8 - var stage1 = sha1((Buffer.from(password, 'utf8')).toString('binary')); - var stage2 = sha1(stage1); - var stage3 = sha1(scramble.toString('binary') + stage2); - return xor(stage3, stage1); -}; - -// This is a port of sql/password.c:hash_password which needs to be used for -// pre-4.1 passwords. -Auth.hashPassword = function(password) { - var nr = [0x5030, 0x5735]; - var add = 7; - var nr2 = [0x1234, 0x5671]; - var result = Buffer.alloc(8); - - if (typeof password === 'string'){ - password = Buffer.from(password); - } - - for (var i = 0; i < password.length; i++) { - var c = password[i]; - if (c === 32 || c === 9) { - // skip space in password - continue; - } - - // nr^= (((nr & 63)+add)*c)+ (nr << 8); - // nr = xor(nr, add(mul(add(and(nr, 63), add), c), shl(nr, 8))) - nr = this.xor32(nr, this.add32(this.mul32(this.add32(this.and32(nr, [0, 63]), [0, add]), [0, c]), this.shl32(nr, 8))); - - // nr2+=(nr2 << 8) ^ nr; - // nr2 = add(nr2, xor(shl(nr2, 8), nr)) - nr2 = this.add32(nr2, this.xor32(this.shl32(nr2, 8), nr)); - - // add+=tmp; - add += c; - } - - this.int31Write(result, nr, 0); - this.int31Write(result, nr2, 4); - - return result; -}; - -Auth.randomInit = function(seed1, seed2) { - return { - max_value : 0x3FFFFFFF, - max_value_dbl : 0x3FFFFFFF, - seed1 : seed1 % 0x3FFFFFFF, - seed2 : seed2 % 0x3FFFFFFF - }; -}; - -Auth.myRnd = function(r){ - r.seed1 = (r.seed1 * 3 + r.seed2) % r.max_value; - r.seed2 = (r.seed1 + r.seed2 + 33) % r.max_value; - - return r.seed1 / r.max_value_dbl; -}; - -Auth.scramble323 = function(message, password) { - if (!password) { - return Buffer.alloc(0); - } - - var to = Buffer.allocUnsafe(8); - var hashPass = this.hashPassword(password); - var hashMessage = this.hashPassword(message.slice(0, 8)); - var seed1 = this.int32Read(hashPass, 0) ^ this.int32Read(hashMessage, 0); - var seed2 = this.int32Read(hashPass, 4) ^ this.int32Read(hashMessage, 4); - var r = this.randomInit(seed1, seed2); - - for (var i = 0; i < 8; i++){ - to[i] = Math.floor(this.myRnd(r) * 31) + 64; - } - var extra = (Math.floor(this.myRnd(r) * 31)); - - for (var i = 0; i < 8; i++){ - to[i] ^= extra; - } - - return to; -}; - -Auth.xor32 = function(a, b){ - return [a[0] ^ b[0], a[1] ^ b[1]]; -}; - -Auth.add32 = function(a, b){ - var w1 = a[1] + b[1]; - var w2 = a[0] + b[0] + ((w1 & 0xFFFF0000) >> 16); - - return [w2 & 0xFFFF, w1 & 0xFFFF]; -}; - -Auth.mul32 = function(a, b){ - // based on this example of multiplying 32b ints using 16b - // http://www.dsprelated.com/showmessage/89790/1.php - var w1 = a[1] * b[1]; - var w2 = (((a[1] * b[1]) >> 16) & 0xFFFF) + ((a[0] * b[1]) & 0xFFFF) + (a[1] * b[0] & 0xFFFF); - - return [w2 & 0xFFFF, w1 & 0xFFFF]; -}; - -Auth.and32 = function(a, b){ - return [a[0] & b[0], a[1] & b[1]]; -}; - -Auth.shl32 = function(a, b){ - // assume b is 16 or less - var w1 = a[1] << b; - var w2 = (a[0] << b) | ((w1 & 0xFFFF0000) >> 16); - - return [w2 & 0xFFFF, w1 & 0xFFFF]; -}; - -Auth.int31Write = function(buffer, number, offset) { - buffer[offset] = (number[0] >> 8) & 0x7F; - buffer[offset + 1] = (number[0]) & 0xFF; - buffer[offset + 2] = (number[1] >> 8) & 0xFF; - buffer[offset + 3] = (number[1]) & 0xFF; -}; - -Auth.int32Read = function(buffer, offset){ - return (buffer[offset] << 24) - + (buffer[offset + 1] << 16) - + (buffer[offset + 2] << 8) - + (buffer[offset + 3]); -}; diff --git a/node_modules/mysql/lib/protocol/BufferList.js b/node_modules/mysql/lib/protocol/BufferList.js deleted file mode 100644 index 3cd0192..0000000 --- a/node_modules/mysql/lib/protocol/BufferList.js +++ /dev/null @@ -1,25 +0,0 @@ - -module.exports = BufferList; -function BufferList() { - this.bufs = []; - this.size = 0; -} - -BufferList.prototype.shift = function shift() { - var buf = this.bufs.shift(); - - if (buf) { - this.size -= buf.length; - } - - return buf; -}; - -BufferList.prototype.push = function push(buf) { - if (!buf || !buf.length) { - return; - } - - this.bufs.push(buf); - this.size += buf.length; -}; diff --git a/node_modules/mysql/lib/protocol/PacketHeader.js b/node_modules/mysql/lib/protocol/PacketHeader.js deleted file mode 100644 index 1bb282e..0000000 --- a/node_modules/mysql/lib/protocol/PacketHeader.js +++ /dev/null @@ -1,5 +0,0 @@ -module.exports = PacketHeader; -function PacketHeader(length, number) { - this.length = length; - this.number = number; -} diff --git a/node_modules/mysql/lib/protocol/PacketWriter.js b/node_modules/mysql/lib/protocol/PacketWriter.js deleted file mode 100644 index 4d0afd2..0000000 --- a/node_modules/mysql/lib/protocol/PacketWriter.js +++ /dev/null @@ -1,211 +0,0 @@ -var BIT_16 = Math.pow(2, 16); -var BIT_24 = Math.pow(2, 24); -var BUFFER_ALLOC_SIZE = Math.pow(2, 8); -// The maximum precision JS Numbers can hold precisely -// Don't panic: Good enough to represent byte values up to 8192 TB -var IEEE_754_BINARY_64_PRECISION = Math.pow(2, 53); -var MAX_PACKET_LENGTH = Math.pow(2, 24) - 1; -var Buffer = require('safe-buffer').Buffer; - -module.exports = PacketWriter; -function PacketWriter() { - this._buffer = null; - this._offset = 0; -} - -PacketWriter.prototype.toBuffer = function toBuffer(parser) { - if (!this._buffer) { - this._buffer = Buffer.alloc(0); - this._offset = 0; - } - - var buffer = this._buffer; - var length = this._offset; - var packets = Math.floor(length / MAX_PACKET_LENGTH) + 1; - - this._buffer = Buffer.allocUnsafe(length + packets * 4); - this._offset = 0; - - for (var packet = 0; packet < packets; packet++) { - var isLast = (packet + 1 === packets); - var packetLength = (isLast) - ? length % MAX_PACKET_LENGTH - : MAX_PACKET_LENGTH; - - var packetNumber = parser.incrementPacketNumber(); - - this.writeUnsignedNumber(3, packetLength); - this.writeUnsignedNumber(1, packetNumber); - - var start = packet * MAX_PACKET_LENGTH; - var end = start + packetLength; - - this.writeBuffer(buffer.slice(start, end)); - } - - return this._buffer; -}; - -PacketWriter.prototype.writeUnsignedNumber = function(bytes, value) { - this._allocate(bytes); - - for (var i = 0; i < bytes; i++) { - this._buffer[this._offset++] = (value >> (i * 8)) & 0xff; - } -}; - -PacketWriter.prototype.writeFiller = function(bytes) { - this._allocate(bytes); - - for (var i = 0; i < bytes; i++) { - this._buffer[this._offset++] = 0x00; - } -}; - -PacketWriter.prototype.writeNullTerminatedString = function(value, encoding) { - // Typecast undefined into '' and numbers into strings - value = value || ''; - value = value + ''; - - var bytes = Buffer.byteLength(value, encoding || 'utf-8') + 1; - this._allocate(bytes); - - this._buffer.write(value, this._offset, encoding); - this._buffer[this._offset + bytes - 1] = 0x00; - - this._offset += bytes; -}; - -PacketWriter.prototype.writeString = function(value) { - // Typecast undefined into '' and numbers into strings - value = value || ''; - value = value + ''; - - var bytes = Buffer.byteLength(value, 'utf-8'); - this._allocate(bytes); - - this._buffer.write(value, this._offset, 'utf-8'); - - this._offset += bytes; -}; - -PacketWriter.prototype.writeBuffer = function(value) { - var bytes = value.length; - - this._allocate(bytes); - value.copy(this._buffer, this._offset); - this._offset += bytes; -}; - -PacketWriter.prototype.writeLengthCodedNumber = function(value) { - if (value === null) { - this._allocate(1); - this._buffer[this._offset++] = 251; - return; - } - - if (value <= 250) { - this._allocate(1); - this._buffer[this._offset++] = value; - return; - } - - if (value > IEEE_754_BINARY_64_PRECISION) { - throw new Error( - 'writeLengthCodedNumber: JS precision range exceeded, your ' + - 'number is > 53 bit: "' + value + '"' - ); - } - - if (value < BIT_16) { - this._allocate(3); - this._buffer[this._offset++] = 252; - } else if (value < BIT_24) { - this._allocate(4); - this._buffer[this._offset++] = 253; - } else { - this._allocate(9); - this._buffer[this._offset++] = 254; - } - - // 16 Bit - this._buffer[this._offset++] = value & 0xff; - this._buffer[this._offset++] = (value >> 8) & 0xff; - - if (value < BIT_16) { - return; - } - - // 24 Bit - this._buffer[this._offset++] = (value >> 16) & 0xff; - - if (value < BIT_24) { - return; - } - - this._buffer[this._offset++] = (value >> 24) & 0xff; - - // Hack: Get the most significant 32 bit (JS bitwise operators are 32 bit) - value = value.toString(2); - value = value.substr(0, value.length - 32); - value = parseInt(value, 2); - - this._buffer[this._offset++] = value & 0xff; - this._buffer[this._offset++] = (value >> 8) & 0xff; - this._buffer[this._offset++] = (value >> 16) & 0xff; - - // Set last byte to 0, as we can only support 53 bits in JS (see above) - this._buffer[this._offset++] = 0; -}; - -PacketWriter.prototype.writeLengthCodedBuffer = function(value) { - var bytes = value.length; - this.writeLengthCodedNumber(bytes); - this.writeBuffer(value); -}; - -PacketWriter.prototype.writeNullTerminatedBuffer = function(value) { - this.writeBuffer(value); - this.writeFiller(1); // 0x00 terminator -}; - -PacketWriter.prototype.writeLengthCodedString = function(value) { - if (value === null) { - this.writeLengthCodedNumber(null); - return; - } - - value = (value === undefined) - ? '' - : String(value); - - var bytes = Buffer.byteLength(value, 'utf-8'); - this.writeLengthCodedNumber(bytes); - - if (!bytes) { - return; - } - - this._allocate(bytes); - this._buffer.write(value, this._offset, 'utf-8'); - this._offset += bytes; -}; - -PacketWriter.prototype._allocate = function _allocate(bytes) { - if (!this._buffer) { - this._buffer = Buffer.alloc(Math.max(BUFFER_ALLOC_SIZE, bytes)); - this._offset = 0; - return; - } - - var bytesRemaining = this._buffer.length - this._offset; - if (bytesRemaining >= bytes) { - return; - } - - var newSize = this._buffer.length + Math.max(BUFFER_ALLOC_SIZE, bytes); - var oldBuffer = this._buffer; - - this._buffer = Buffer.alloc(newSize); - oldBuffer.copy(this._buffer); -}; diff --git a/node_modules/mysql/lib/protocol/Parser.js b/node_modules/mysql/lib/protocol/Parser.js deleted file mode 100644 index e72555f..0000000 --- a/node_modules/mysql/lib/protocol/Parser.js +++ /dev/null @@ -1,491 +0,0 @@ -var PacketHeader = require('./PacketHeader'); -var BigNumber = require('bignumber.js'); -var Buffer = require('safe-buffer').Buffer; -var BufferList = require('./BufferList'); - -var MAX_PACKET_LENGTH = Math.pow(2, 24) - 1; -var MUL_32BIT = Math.pow(2, 32); -var PACKET_HEADER_LENGTH = 4; - -module.exports = Parser; -function Parser(options) { - options = options || {}; - - this._supportBigNumbers = options.config && options.config.supportBigNumbers; - this._buffer = Buffer.alloc(0); - this._nextBuffers = new BufferList(); - this._longPacketBuffers = new BufferList(); - this._offset = 0; - this._packetEnd = null; - this._packetHeader = null; - this._packetOffset = null; - this._onError = options.onError || function(err) { throw err; }; - this._onPacket = options.onPacket || function() {}; - this._nextPacketNumber = 0; - this._encoding = 'utf-8'; - this._paused = false; -} - -Parser.prototype.write = function write(chunk) { - this._nextBuffers.push(chunk); - - while (!this._paused) { - var packetHeader = this._tryReadPacketHeader(); - - if (!packetHeader) { - break; - } - - if (!this._combineNextBuffers(packetHeader.length)) { - break; - } - - this._parsePacket(packetHeader); - } -}; - -Parser.prototype.append = function append(chunk) { - if (!chunk || chunk.length === 0) { - return; - } - - // Calculate slice ranges - var sliceEnd = this._buffer.length; - var sliceStart = this._packetOffset === null - ? this._offset - : this._packetOffset; - var sliceLength = sliceEnd - sliceStart; - - // Get chunk data - var buffer = null; - var chunks = !(chunk instanceof Array || Array.isArray(chunk)) ? [chunk] : chunk; - var length = 0; - var offset = 0; - - for (var i = 0; i < chunks.length; i++) { - length += chunks[i].length; - } - - if (sliceLength !== 0) { - // Create a new Buffer - buffer = Buffer.allocUnsafe(sliceLength + length); - offset = 0; - - // Copy data slice - offset += this._buffer.copy(buffer, 0, sliceStart, sliceEnd); - - // Copy chunks - for (var i = 0; i < chunks.length; i++) { - offset += chunks[i].copy(buffer, offset); - } - } else if (chunks.length > 1) { - // Create a new Buffer - buffer = Buffer.allocUnsafe(length); - offset = 0; - - // Copy chunks - for (var i = 0; i < chunks.length; i++) { - offset += chunks[i].copy(buffer, offset); - } - } else { - // Buffer is the only chunk - buffer = chunks[0]; - } - - // Adjust data-tracking pointers - this._buffer = buffer; - this._offset = this._offset - sliceStart; - this._packetEnd = this._packetEnd !== null - ? this._packetEnd - sliceStart - : null; - this._packetOffset = this._packetOffset !== null - ? this._packetOffset - sliceStart - : null; -}; - -Parser.prototype.pause = function() { - this._paused = true; -}; - -Parser.prototype.resume = function() { - this._paused = false; - - // nextTick() to avoid entering write() multiple times within the same stack - // which would cause problems as write manipulates the state of the object. - process.nextTick(this.write.bind(this)); -}; - -Parser.prototype.peak = function peak(offset) { - return this._buffer[this._offset + (offset >>> 0)]; -}; - -Parser.prototype.parseUnsignedNumber = function parseUnsignedNumber(bytes) { - if (bytes === 1) { - return this._buffer[this._offset++]; - } - - var buffer = this._buffer; - var offset = this._offset + bytes - 1; - var value = 0; - - if (bytes > 4) { - var err = new Error('parseUnsignedNumber: Supports only up to 4 bytes'); - err.offset = (this._offset - this._packetOffset - 1); - err.code = 'PARSER_UNSIGNED_TOO_LONG'; - throw err; - } - - while (offset >= this._offset) { - value = ((value << 8) | buffer[offset]) >>> 0; - offset--; - } - - this._offset += bytes; - - return value; -}; - -Parser.prototype.parseLengthCodedString = function() { - var length = this.parseLengthCodedNumber(); - - if (length === null) { - return null; - } - - return this.parseString(length); -}; - -Parser.prototype.parseLengthCodedBuffer = function() { - var length = this.parseLengthCodedNumber(); - - if (length === null) { - return null; - } - - return this.parseBuffer(length); -}; - -Parser.prototype.parseLengthCodedNumber = function parseLengthCodedNumber() { - if (this._offset >= this._buffer.length) { - var err = new Error('Parser: read past end'); - err.offset = (this._offset - this._packetOffset); - err.code = 'PARSER_READ_PAST_END'; - throw err; - } - - var bits = this._buffer[this._offset++]; - - if (bits <= 250) { - return bits; - } - - switch (bits) { - case 251: - return null; - case 252: - return this.parseUnsignedNumber(2); - case 253: - return this.parseUnsignedNumber(3); - case 254: - break; - default: - var err = new Error('Unexpected first byte' + (bits ? ': 0x' + bits.toString(16) : '')); - err.offset = (this._offset - this._packetOffset - 1); - err.code = 'PARSER_BAD_LENGTH_BYTE'; - throw err; - } - - var low = this.parseUnsignedNumber(4); - var high = this.parseUnsignedNumber(4); - var value; - - if (high >>> 21) { - value = BigNumber(MUL_32BIT).times(high).plus(low).toString(); - - if (this._supportBigNumbers) { - return value; - } - - var err = new Error( - 'parseLengthCodedNumber: JS precision range exceeded, ' + - 'number is >= 53 bit: "' + value + '"' - ); - err.offset = (this._offset - this._packetOffset - 8); - err.code = 'PARSER_JS_PRECISION_RANGE_EXCEEDED'; - throw err; - } - - value = low + (MUL_32BIT * high); - - return value; -}; - -Parser.prototype.parseFiller = function(length) { - return this.parseBuffer(length); -}; - -Parser.prototype.parseNullTerminatedBuffer = function() { - var end = this._nullByteOffset(); - var value = this._buffer.slice(this._offset, end); - this._offset = end + 1; - - return value; -}; - -Parser.prototype.parseNullTerminatedString = function() { - var end = this._nullByteOffset(); - var value = this._buffer.toString(this._encoding, this._offset, end); - this._offset = end + 1; - - return value; -}; - -Parser.prototype._nullByteOffset = function() { - var offset = this._offset; - - while (this._buffer[offset] !== 0x00) { - offset++; - - if (offset >= this._buffer.length) { - var err = new Error('Offset of null terminated string not found.'); - err.offset = (this._offset - this._packetOffset); - err.code = 'PARSER_MISSING_NULL_BYTE'; - throw err; - } - } - - return offset; -}; - -Parser.prototype.parsePacketTerminatedBuffer = function parsePacketTerminatedBuffer() { - var length = this._packetEnd - this._offset; - return this.parseBuffer(length); -}; - -Parser.prototype.parsePacketTerminatedString = function() { - var length = this._packetEnd - this._offset; - return this.parseString(length); -}; - -Parser.prototype.parseBuffer = function(length) { - var response = Buffer.alloc(length); - this._buffer.copy(response, 0, this._offset, this._offset + length); - - this._offset += length; - return response; -}; - -Parser.prototype.parseString = function(length) { - var offset = this._offset; - var end = offset + length; - var value = this._buffer.toString(this._encoding, offset, end); - - this._offset = end; - return value; -}; - -Parser.prototype.parseGeometryValue = function() { - var buffer = this.parseLengthCodedBuffer(); - var offset = 4; - - if (buffer === null || !buffer.length) { - return null; - } - - function parseGeometry() { - var result = null; - var byteOrder = buffer.readUInt8(offset); offset += 1; - var wkbType = byteOrder ? buffer.readUInt32LE(offset) : buffer.readUInt32BE(offset); offset += 4; - switch (wkbType) { - case 1: // WKBPoint - var x = byteOrder ? buffer.readDoubleLE(offset) : buffer.readDoubleBE(offset); offset += 8; - var y = byteOrder ? buffer.readDoubleLE(offset) : buffer.readDoubleBE(offset); offset += 8; - result = {x: x, y: y}; - break; - case 2: // WKBLineString - var numPoints = byteOrder ? buffer.readUInt32LE(offset) : buffer.readUInt32BE(offset); offset += 4; - result = []; - for (var i = numPoints; i > 0; i--) { - var x = byteOrder ? buffer.readDoubleLE(offset) : buffer.readDoubleBE(offset); offset += 8; - var y = byteOrder ? buffer.readDoubleLE(offset) : buffer.readDoubleBE(offset); offset += 8; - result.push({x: x, y: y}); - } - break; - case 3: // WKBPolygon - var numRings = byteOrder ? buffer.readUInt32LE(offset) : buffer.readUInt32BE(offset); offset += 4; - result = []; - for (var i = numRings; i > 0; i--) { - var numPoints = byteOrder ? buffer.readUInt32LE(offset) : buffer.readUInt32BE(offset); offset += 4; - var line = []; - for (var j = numPoints; j > 0; j--) { - var x = byteOrder ? buffer.readDoubleLE(offset) : buffer.readDoubleBE(offset); offset += 8; - var y = byteOrder ? buffer.readDoubleLE(offset) : buffer.readDoubleBE(offset); offset += 8; - line.push({x: x, y: y}); - } - result.push(line); - } - break; - case 4: // WKBMultiPoint - case 5: // WKBMultiLineString - case 6: // WKBMultiPolygon - case 7: // WKBGeometryCollection - var num = byteOrder ? buffer.readUInt32LE(offset) : buffer.readUInt32BE(offset); offset += 4; - var result = []; - for (var i = num; i > 0; i--) { - result.push(parseGeometry()); - } - break; - } - return result; - } - return parseGeometry(); -}; - -Parser.prototype.reachedPacketEnd = function() { - return this._offset === this._packetEnd; -}; - -Parser.prototype.incrementPacketNumber = function() { - var currentPacketNumber = this._nextPacketNumber; - this._nextPacketNumber = (this._nextPacketNumber + 1) % 256; - - return currentPacketNumber; -}; - -Parser.prototype.resetPacketNumber = function() { - this._nextPacketNumber = 0; -}; - -Parser.prototype.packetLength = function packetLength() { - if (!this._packetHeader) { - return null; - } - - return this._packetHeader.length + this._longPacketBuffers.size; -}; - -Parser.prototype._combineNextBuffers = function _combineNextBuffers(bytes) { - var length = this._buffer.length - this._offset; - - if (length >= bytes) { - return true; - } - - if ((length + this._nextBuffers.size) < bytes) { - return false; - } - - var buffers = []; - var bytesNeeded = bytes - length; - - while (bytesNeeded > 0) { - var buffer = this._nextBuffers.shift(); - buffers.push(buffer); - bytesNeeded -= buffer.length; - } - - this.append(buffers); - return true; -}; - -Parser.prototype._combineLongPacketBuffers = function _combineLongPacketBuffers() { - if (!this._longPacketBuffers.size) { - return; - } - - // Calculate bytes - var remainingBytes = this._buffer.length - this._offset; - var trailingPacketBytes = this._buffer.length - this._packetEnd; - - // Create buffer - var buf = null; - var buffer = Buffer.allocUnsafe(remainingBytes + this._longPacketBuffers.size); - var offset = 0; - - // Copy long buffers - while ((buf = this._longPacketBuffers.shift())) { - offset += buf.copy(buffer, offset); - } - - // Copy remaining bytes - this._buffer.copy(buffer, offset, this._offset); - - this._buffer = buffer; - this._offset = 0; - this._packetEnd = this._buffer.length - trailingPacketBytes; - this._packetOffset = 0; -}; - -Parser.prototype._parsePacket = function _parsePacket(packetHeader) { - this._packetEnd = this._offset + packetHeader.length; - this._packetOffset = this._offset; - - if (packetHeader.length === MAX_PACKET_LENGTH) { - this._longPacketBuffers.push(this._buffer.slice(this._packetOffset, this._packetEnd)); - this._advanceToNextPacket(); - return; - } - - this._combineLongPacketBuffers(); - - var hadException = true; - try { - this._onPacket(packetHeader); - hadException = false; - } catch (err) { - if (!err || typeof err.code !== 'string' || err.code.substr(0, 7) !== 'PARSER_') { - throw err; // Rethrow non-MySQL errors - } - - // Pass down parser errors - this._onError(err); - hadException = false; - } finally { - this._advanceToNextPacket(); - - // If there was an exception, the parser while loop will be broken out - // of after the finally block. So schedule a blank write to re-enter it - // to continue parsing any bytes that may already have been received. - if (hadException) { - process.nextTick(this.write.bind(this)); - } - } -}; - -Parser.prototype._tryReadPacketHeader = function _tryReadPacketHeader() { - if (this._packetHeader) { - return this._packetHeader; - } - - if (!this._combineNextBuffers(PACKET_HEADER_LENGTH)) { - return null; - } - - this._packetHeader = new PacketHeader( - this.parseUnsignedNumber(3), - this.parseUnsignedNumber(1) - ); - - if (this._packetHeader.number !== this._nextPacketNumber) { - var err = new Error( - 'Packets out of order. Got: ' + this._packetHeader.number + ' ' + - 'Expected: ' + this._nextPacketNumber - ); - - err.code = 'PROTOCOL_PACKETS_OUT_OF_ORDER'; - err.fatal = true; - - this._onError(err); - } - - this.incrementPacketNumber(); - - return this._packetHeader; -}; - -Parser.prototype._advanceToNextPacket = function() { - this._offset = this._packetEnd; - this._packetHeader = null; - this._packetEnd = null; - this._packetOffset = null; -}; diff --git a/node_modules/mysql/lib/protocol/Protocol.js b/node_modules/mysql/lib/protocol/Protocol.js deleted file mode 100644 index ab37105..0000000 --- a/node_modules/mysql/lib/protocol/Protocol.js +++ /dev/null @@ -1,463 +0,0 @@ -var Parser = require('./Parser'); -var Sequences = require('./sequences'); -var Packets = require('./packets'); -var Stream = require('stream').Stream; -var Util = require('util'); -var PacketWriter = require('./PacketWriter'); - -module.exports = Protocol; -Util.inherits(Protocol, Stream); -function Protocol(options) { - Stream.call(this); - - options = options || {}; - - this.readable = true; - this.writable = true; - - this._config = options.config || {}; - this._connection = options.connection; - this._callback = null; - this._fatalError = null; - this._quitSequence = null; - this._handshake = false; - this._handshaked = false; - this._ended = false; - this._destroyed = false; - this._queue = []; - this._handshakeInitializationPacket = null; - - this._parser = new Parser({ - onError : this.handleParserError.bind(this), - onPacket : this._parsePacket.bind(this), - config : this._config - }); -} - -Protocol.prototype.write = function(buffer) { - this._parser.write(buffer); - return true; -}; - -Protocol.prototype.handshake = function handshake(options, callback) { - if (typeof options === 'function') { - callback = options; - options = {}; - } - - options = options || {}; - options.config = this._config; - - var sequence = this._enqueue(new Sequences.Handshake(options, callback)); - - this._handshake = true; - - return sequence; -}; - -Protocol.prototype.query = function query(options, callback) { - return this._enqueue(new Sequences.Query(options, callback)); -}; - -Protocol.prototype.changeUser = function changeUser(options, callback) { - return this._enqueue(new Sequences.ChangeUser(options, callback)); -}; - -Protocol.prototype.ping = function ping(options, callback) { - if (typeof options === 'function') { - callback = options; - options = {}; - } - - return this._enqueue(new Sequences.Ping(options, callback)); -}; - -Protocol.prototype.stats = function stats(options, callback) { - if (typeof options === 'function') { - callback = options; - options = {}; - } - - return this._enqueue(new Sequences.Statistics(options, callback)); -}; - -Protocol.prototype.quit = function quit(options, callback) { - if (typeof options === 'function') { - callback = options; - options = {}; - } - - var self = this; - var sequence = this._enqueue(new Sequences.Quit(options, callback)); - - sequence.on('end', function () { - self.end(); - }); - - return this._quitSequence = sequence; -}; - -Protocol.prototype.end = function() { - if (this._ended) { - return; - } - this._ended = true; - - if (this._quitSequence && (this._quitSequence._ended || this._queue[0] === this._quitSequence)) { - this._quitSequence.end(); - this.emit('end'); - return; - } - - var err = new Error('Connection lost: The server closed the connection.'); - err.fatal = true; - err.code = 'PROTOCOL_CONNECTION_LOST'; - - this._delegateError(err); -}; - -Protocol.prototype.pause = function() { - this._parser.pause(); - // Since there is a file stream in query, we must transmit pause/resume event to current sequence. - var seq = this._queue[0]; - if (seq && seq.emit) { - seq.emit('pause'); - } -}; - -Protocol.prototype.resume = function() { - this._parser.resume(); - // Since there is a file stream in query, we must transmit pause/resume event to current sequence. - var seq = this._queue[0]; - if (seq && seq.emit) { - seq.emit('resume'); - } -}; - -Protocol.prototype._enqueue = function(sequence) { - if (!this._validateEnqueue(sequence)) { - return sequence; - } - - if (this._config.trace) { - // Long stack trace support - sequence._callSite = sequence._callSite || new Error(); - } - - this._queue.push(sequence); - this.emit('enqueue', sequence); - - var self = this; - sequence - .on('error', function(err) { - self._delegateError(err, sequence); - }) - .on('packet', function(packet) { - sequence._timer.active(); - self._emitPacket(packet); - }) - .on('timeout', function() { - var err = new Error(sequence.constructor.name + ' inactivity timeout'); - - err.code = 'PROTOCOL_SEQUENCE_TIMEOUT'; - err.fatal = true; - err.timeout = sequence._timeout; - - self._delegateError(err, sequence); - }); - - if (sequence.constructor === Sequences.Handshake) { - sequence.on('start-tls', function () { - sequence._timer.active(); - self._connection._startTLS(function(err) { - if (err) { - // SSL negotiation error are fatal - err.code = 'HANDSHAKE_SSL_ERROR'; - err.fatal = true; - sequence.end(err); - return; - } - - sequence._timer.active(); - sequence._tlsUpgradeCompleteHandler(); - }); - }); - - sequence.on('end', function () { - self._handshaked = true; - - if (!self._fatalError) { - self.emit('handshake', self._handshakeInitializationPacket); - } - }); - } - - sequence.on('end', function () { - self._dequeue(sequence); - }); - - if (this._queue.length === 1) { - this._parser.resetPacketNumber(); - this._startSequence(sequence); - } - - return sequence; -}; - -Protocol.prototype._validateEnqueue = function _validateEnqueue(sequence) { - var err; - var prefix = 'Cannot enqueue ' + sequence.constructor.name; - - if (this._fatalError) { - err = new Error(prefix + ' after fatal error.'); - err.code = 'PROTOCOL_ENQUEUE_AFTER_FATAL_ERROR'; - } else if (this._quitSequence) { - err = new Error(prefix + ' after invoking quit.'); - err.code = 'PROTOCOL_ENQUEUE_AFTER_QUIT'; - } else if (this._destroyed) { - err = new Error(prefix + ' after being destroyed.'); - err.code = 'PROTOCOL_ENQUEUE_AFTER_DESTROY'; - } else if ((this._handshake || this._handshaked) && sequence.constructor === Sequences.Handshake) { - err = new Error(prefix + ' after already enqueuing a Handshake.'); - err.code = 'PROTOCOL_ENQUEUE_HANDSHAKE_TWICE'; - } else { - return true; - } - - var self = this; - err.fatal = false; - - // add error handler - sequence.on('error', function (err) { - self._delegateError(err, sequence); - }); - - process.nextTick(function () { - sequence.end(err); - }); - - return false; -}; - -Protocol.prototype._parsePacket = function() { - var sequence = this._queue[0]; - - if (!sequence) { - var err = new Error('Received packet with no active sequence.'); - err.code = 'PROTOCOL_STRAY_PACKET'; - err.fatal = true; - - this._delegateError(err); - return; - } - - var Packet = this._determinePacket(sequence); - var packet = new Packet({protocol41: this._config.protocol41}); - var packetName = Packet.name; - - // Special case: Faster dispatch, and parsing done inside sequence - if (Packet === Packets.RowDataPacket) { - sequence.RowDataPacket(packet, this._parser, this._connection); - - if (this._config.debug) { - this._debugPacket(true, packet); - } - - return; - } - - if (this._config.debug) { - this._parsePacketDebug(packet); - } else { - packet.parse(this._parser); - } - - if (Packet === Packets.HandshakeInitializationPacket) { - this._handshakeInitializationPacket = packet; - this.emit('initialize', packet); - } - - sequence._timer.active(); - - if (!sequence[packetName]) { - var err = new Error('Received packet in the wrong sequence.'); - err.code = 'PROTOCOL_INCORRECT_PACKET_SEQUENCE'; - err.fatal = true; - - this._delegateError(err); - return; - } - - sequence[packetName](packet); -}; - -Protocol.prototype._parsePacketDebug = function _parsePacketDebug(packet) { - try { - packet.parse(this._parser); - } finally { - this._debugPacket(true, packet); - } -}; - -Protocol.prototype._emitPacket = function(packet) { - var packetWriter = new PacketWriter(); - packet.write(packetWriter); - this.emit('data', packetWriter.toBuffer(this._parser)); - - if (this._config.debug) { - this._debugPacket(false, packet); - } -}; - -Protocol.prototype._determinePacket = function(sequence) { - var firstByte = this._parser.peak(); - - if (sequence.determinePacket) { - var Packet = sequence.determinePacket(firstByte, this._parser); - if (Packet) { - return Packet; - } - } - - switch (firstByte) { - case 0x00: return Packets.OkPacket; - case 0xfe: return Packets.EofPacket; - case 0xff: return Packets.ErrorPacket; - } - - throw new Error('Could not determine packet, firstByte = ' + firstByte); -}; - -Protocol.prototype._dequeue = function(sequence) { - sequence._timer.stop(); - - // No point in advancing the queue, we are dead - if (this._fatalError) { - return; - } - - this._queue.shift(); - - var sequence = this._queue[0]; - if (!sequence) { - this.emit('drain'); - return; - } - - this._parser.resetPacketNumber(); - - this._startSequence(sequence); -}; - -Protocol.prototype._startSequence = function(sequence) { - if (sequence._timeout > 0 && isFinite(sequence._timeout)) { - sequence._timer.start(sequence._timeout); - } - - if (sequence.constructor === Sequences.ChangeUser) { - sequence.start(this._handshakeInitializationPacket); - } else { - sequence.start(); - } -}; - -Protocol.prototype.handleNetworkError = function(err) { - err.fatal = true; - - var sequence = this._queue[0]; - if (sequence) { - sequence.end(err); - } else { - this._delegateError(err); - } -}; - -Protocol.prototype.handleParserError = function handleParserError(err) { - var sequence = this._queue[0]; - if (sequence) { - sequence.end(err); - } else { - this._delegateError(err); - } -}; - -Protocol.prototype._delegateError = function(err, sequence) { - // Stop delegating errors after the first fatal error - if (this._fatalError) { - return; - } - - if (err.fatal) { - this._fatalError = err; - } - - if (this._shouldErrorBubbleUp(err, sequence)) { - // Can't use regular 'error' event here as that always destroys the pipe - // between socket and protocol which is not what we want (unless the - // exception was fatal). - this.emit('unhandledError', err); - } else if (err.fatal) { - // Send fatal error to all sequences in the queue - var queue = this._queue; - process.nextTick(function () { - queue.forEach(function (sequence) { - sequence.end(err); - }); - queue.length = 0; - }); - } - - // Make sure the stream we are piping to is getting closed - if (err.fatal) { - this.emit('end', err); - } -}; - -Protocol.prototype._shouldErrorBubbleUp = function(err, sequence) { - if (sequence) { - if (sequence.hasErrorHandler()) { - return false; - } else if (!err.fatal) { - return true; - } - } - - return (err.fatal && !this._hasPendingErrorHandlers()); -}; - -Protocol.prototype._hasPendingErrorHandlers = function() { - return this._queue.some(function(sequence) { - return sequence.hasErrorHandler(); - }); -}; - -Protocol.prototype.destroy = function() { - this._destroyed = true; - this._parser.pause(); - - if (this._connection.state !== 'disconnected') { - if (!this._ended) { - this.end(); - } - } -}; - -Protocol.prototype._debugPacket = function(incoming, packet) { - var connection = this._connection; - var direction = incoming - ? '<--' - : '-->'; - var packetName = packet.constructor.name; - var threadId = connection && connection.threadId !== null - ? ' (' + connection.threadId + ')' - : ''; - - // check for debug packet restriction - if (Array.isArray(this._config.debug) && this._config.debug.indexOf(packetName) === -1) { - return; - } - - var packetPayload = Util.inspect(packet).replace(/^[^{]+/, ''); - - console.log('%s%s %s %s\n', direction, threadId, packetName, packetPayload); -}; diff --git a/node_modules/mysql/lib/protocol/ResultSet.js b/node_modules/mysql/lib/protocol/ResultSet.js deleted file mode 100644 index f58d74f..0000000 --- a/node_modules/mysql/lib/protocol/ResultSet.js +++ /dev/null @@ -1,7 +0,0 @@ -module.exports = ResultSet; -function ResultSet(resultSetHeaderPacket) { - this.resultSetHeaderPacket = resultSetHeaderPacket; - this.fieldPackets = []; - this.eofPackets = []; - this.rows = []; -} diff --git a/node_modules/mysql/lib/protocol/SqlString.js b/node_modules/mysql/lib/protocol/SqlString.js deleted file mode 100644 index 30c63d8..0000000 --- a/node_modules/mysql/lib/protocol/SqlString.js +++ /dev/null @@ -1 +0,0 @@ -module.exports = require('sqlstring'); diff --git a/node_modules/mysql/lib/protocol/Timer.js b/node_modules/mysql/lib/protocol/Timer.js deleted file mode 100644 index 45ed029..0000000 --- a/node_modules/mysql/lib/protocol/Timer.js +++ /dev/null @@ -1,33 +0,0 @@ -var Timers = require('timers'); - -module.exports = Timer; -function Timer(object) { - this._object = object; - this._timeout = null; -} - -Timer.prototype.active = function active() { - if (this._timeout) { - if (this._timeout.refresh) { - this._timeout.refresh(); - } else { - Timers.active(this._timeout); - } - } -}; - -Timer.prototype.start = function start(msecs) { - this.stop(); - this._timeout = Timers.setTimeout(this._onTimeout.bind(this), msecs); -}; - -Timer.prototype.stop = function stop() { - if (this._timeout) { - Timers.clearTimeout(this._timeout); - this._timeout = null; - } -}; - -Timer.prototype._onTimeout = function _onTimeout() { - return this._object._onTimeout(); -}; diff --git a/node_modules/mysql/lib/protocol/constants/charsets.js b/node_modules/mysql/lib/protocol/constants/charsets.js deleted file mode 100644 index 98b88ea..0000000 --- a/node_modules/mysql/lib/protocol/constants/charsets.js +++ /dev/null @@ -1,262 +0,0 @@ -exports.BIG5_CHINESE_CI = 1; -exports.LATIN2_CZECH_CS = 2; -exports.DEC8_SWEDISH_CI = 3; -exports.CP850_GENERAL_CI = 4; -exports.LATIN1_GERMAN1_CI = 5; -exports.HP8_ENGLISH_CI = 6; -exports.KOI8R_GENERAL_CI = 7; -exports.LATIN1_SWEDISH_CI = 8; -exports.LATIN2_GENERAL_CI = 9; -exports.SWE7_SWEDISH_CI = 10; -exports.ASCII_GENERAL_CI = 11; -exports.UJIS_JAPANESE_CI = 12; -exports.SJIS_JAPANESE_CI = 13; -exports.CP1251_BULGARIAN_CI = 14; -exports.LATIN1_DANISH_CI = 15; -exports.HEBREW_GENERAL_CI = 16; -exports.TIS620_THAI_CI = 18; -exports.EUCKR_KOREAN_CI = 19; -exports.LATIN7_ESTONIAN_CS = 20; -exports.LATIN2_HUNGARIAN_CI = 21; -exports.KOI8U_GENERAL_CI = 22; -exports.CP1251_UKRAINIAN_CI = 23; -exports.GB2312_CHINESE_CI = 24; -exports.GREEK_GENERAL_CI = 25; -exports.CP1250_GENERAL_CI = 26; -exports.LATIN2_CROATIAN_CI = 27; -exports.GBK_CHINESE_CI = 28; -exports.CP1257_LITHUANIAN_CI = 29; -exports.LATIN5_TURKISH_CI = 30; -exports.LATIN1_GERMAN2_CI = 31; -exports.ARMSCII8_GENERAL_CI = 32; -exports.UTF8_GENERAL_CI = 33; -exports.CP1250_CZECH_CS = 34; -exports.UCS2_GENERAL_CI = 35; -exports.CP866_GENERAL_CI = 36; -exports.KEYBCS2_GENERAL_CI = 37; -exports.MACCE_GENERAL_CI = 38; -exports.MACROMAN_GENERAL_CI = 39; -exports.CP852_GENERAL_CI = 40; -exports.LATIN7_GENERAL_CI = 41; -exports.LATIN7_GENERAL_CS = 42; -exports.MACCE_BIN = 43; -exports.CP1250_CROATIAN_CI = 44; -exports.UTF8MB4_GENERAL_CI = 45; -exports.UTF8MB4_BIN = 46; -exports.LATIN1_BIN = 47; -exports.LATIN1_GENERAL_CI = 48; -exports.LATIN1_GENERAL_CS = 49; -exports.CP1251_BIN = 50; -exports.CP1251_GENERAL_CI = 51; -exports.CP1251_GENERAL_CS = 52; -exports.MACROMAN_BIN = 53; -exports.UTF16_GENERAL_CI = 54; -exports.UTF16_BIN = 55; -exports.UTF16LE_GENERAL_CI = 56; -exports.CP1256_GENERAL_CI = 57; -exports.CP1257_BIN = 58; -exports.CP1257_GENERAL_CI = 59; -exports.UTF32_GENERAL_CI = 60; -exports.UTF32_BIN = 61; -exports.UTF16LE_BIN = 62; -exports.BINARY = 63; -exports.ARMSCII8_BIN = 64; -exports.ASCII_BIN = 65; -exports.CP1250_BIN = 66; -exports.CP1256_BIN = 67; -exports.CP866_BIN = 68; -exports.DEC8_BIN = 69; -exports.GREEK_BIN = 70; -exports.HEBREW_BIN = 71; -exports.HP8_BIN = 72; -exports.KEYBCS2_BIN = 73; -exports.KOI8R_BIN = 74; -exports.KOI8U_BIN = 75; -exports.LATIN2_BIN = 77; -exports.LATIN5_BIN = 78; -exports.LATIN7_BIN = 79; -exports.CP850_BIN = 80; -exports.CP852_BIN = 81; -exports.SWE7_BIN = 82; -exports.UTF8_BIN = 83; -exports.BIG5_BIN = 84; -exports.EUCKR_BIN = 85; -exports.GB2312_BIN = 86; -exports.GBK_BIN = 87; -exports.SJIS_BIN = 88; -exports.TIS620_BIN = 89; -exports.UCS2_BIN = 90; -exports.UJIS_BIN = 91; -exports.GEOSTD8_GENERAL_CI = 92; -exports.GEOSTD8_BIN = 93; -exports.LATIN1_SPANISH_CI = 94; -exports.CP932_JAPANESE_CI = 95; -exports.CP932_BIN = 96; -exports.EUCJPMS_JAPANESE_CI = 97; -exports.EUCJPMS_BIN = 98; -exports.CP1250_POLISH_CI = 99; -exports.UTF16_UNICODE_CI = 101; -exports.UTF16_ICELANDIC_CI = 102; -exports.UTF16_LATVIAN_CI = 103; -exports.UTF16_ROMANIAN_CI = 104; -exports.UTF16_SLOVENIAN_CI = 105; -exports.UTF16_POLISH_CI = 106; -exports.UTF16_ESTONIAN_CI = 107; -exports.UTF16_SPANISH_CI = 108; -exports.UTF16_SWEDISH_CI = 109; -exports.UTF16_TURKISH_CI = 110; -exports.UTF16_CZECH_CI = 111; -exports.UTF16_DANISH_CI = 112; -exports.UTF16_LITHUANIAN_CI = 113; -exports.UTF16_SLOVAK_CI = 114; -exports.UTF16_SPANISH2_CI = 115; -exports.UTF16_ROMAN_CI = 116; -exports.UTF16_PERSIAN_CI = 117; -exports.UTF16_ESPERANTO_CI = 118; -exports.UTF16_HUNGARIAN_CI = 119; -exports.UTF16_SINHALA_CI = 120; -exports.UTF16_GERMAN2_CI = 121; -exports.UTF16_CROATIAN_MYSQL561_CI = 122; -exports.UTF16_UNICODE_520_CI = 123; -exports.UTF16_VIETNAMESE_CI = 124; -exports.UCS2_UNICODE_CI = 128; -exports.UCS2_ICELANDIC_CI = 129; -exports.UCS2_LATVIAN_CI = 130; -exports.UCS2_ROMANIAN_CI = 131; -exports.UCS2_SLOVENIAN_CI = 132; -exports.UCS2_POLISH_CI = 133; -exports.UCS2_ESTONIAN_CI = 134; -exports.UCS2_SPANISH_CI = 135; -exports.UCS2_SWEDISH_CI = 136; -exports.UCS2_TURKISH_CI = 137; -exports.UCS2_CZECH_CI = 138; -exports.UCS2_DANISH_CI = 139; -exports.UCS2_LITHUANIAN_CI = 140; -exports.UCS2_SLOVAK_CI = 141; -exports.UCS2_SPANISH2_CI = 142; -exports.UCS2_ROMAN_CI = 143; -exports.UCS2_PERSIAN_CI = 144; -exports.UCS2_ESPERANTO_CI = 145; -exports.UCS2_HUNGARIAN_CI = 146; -exports.UCS2_SINHALA_CI = 147; -exports.UCS2_GERMAN2_CI = 148; -exports.UCS2_CROATIAN_MYSQL561_CI = 149; -exports.UCS2_UNICODE_520_CI = 150; -exports.UCS2_VIETNAMESE_CI = 151; -exports.UCS2_GENERAL_MYSQL500_CI = 159; -exports.UTF32_UNICODE_CI = 160; -exports.UTF32_ICELANDIC_CI = 161; -exports.UTF32_LATVIAN_CI = 162; -exports.UTF32_ROMANIAN_CI = 163; -exports.UTF32_SLOVENIAN_CI = 164; -exports.UTF32_POLISH_CI = 165; -exports.UTF32_ESTONIAN_CI = 166; -exports.UTF32_SPANISH_CI = 167; -exports.UTF32_SWEDISH_CI = 168; -exports.UTF32_TURKISH_CI = 169; -exports.UTF32_CZECH_CI = 170; -exports.UTF32_DANISH_CI = 171; -exports.UTF32_LITHUANIAN_CI = 172; -exports.UTF32_SLOVAK_CI = 173; -exports.UTF32_SPANISH2_CI = 174; -exports.UTF32_ROMAN_CI = 175; -exports.UTF32_PERSIAN_CI = 176; -exports.UTF32_ESPERANTO_CI = 177; -exports.UTF32_HUNGARIAN_CI = 178; -exports.UTF32_SINHALA_CI = 179; -exports.UTF32_GERMAN2_CI = 180; -exports.UTF32_CROATIAN_MYSQL561_CI = 181; -exports.UTF32_UNICODE_520_CI = 182; -exports.UTF32_VIETNAMESE_CI = 183; -exports.UTF8_UNICODE_CI = 192; -exports.UTF8_ICELANDIC_CI = 193; -exports.UTF8_LATVIAN_CI = 194; -exports.UTF8_ROMANIAN_CI = 195; -exports.UTF8_SLOVENIAN_CI = 196; -exports.UTF8_POLISH_CI = 197; -exports.UTF8_ESTONIAN_CI = 198; -exports.UTF8_SPANISH_CI = 199; -exports.UTF8_SWEDISH_CI = 200; -exports.UTF8_TURKISH_CI = 201; -exports.UTF8_CZECH_CI = 202; -exports.UTF8_DANISH_CI = 203; -exports.UTF8_LITHUANIAN_CI = 204; -exports.UTF8_SLOVAK_CI = 205; -exports.UTF8_SPANISH2_CI = 206; -exports.UTF8_ROMAN_CI = 207; -exports.UTF8_PERSIAN_CI = 208; -exports.UTF8_ESPERANTO_CI = 209; -exports.UTF8_HUNGARIAN_CI = 210; -exports.UTF8_SINHALA_CI = 211; -exports.UTF8_GERMAN2_CI = 212; -exports.UTF8_CROATIAN_MYSQL561_CI = 213; -exports.UTF8_UNICODE_520_CI = 214; -exports.UTF8_VIETNAMESE_CI = 215; -exports.UTF8_GENERAL_MYSQL500_CI = 223; -exports.UTF8MB4_UNICODE_CI = 224; -exports.UTF8MB4_ICELANDIC_CI = 225; -exports.UTF8MB4_LATVIAN_CI = 226; -exports.UTF8MB4_ROMANIAN_CI = 227; -exports.UTF8MB4_SLOVENIAN_CI = 228; -exports.UTF8MB4_POLISH_CI = 229; -exports.UTF8MB4_ESTONIAN_CI = 230; -exports.UTF8MB4_SPANISH_CI = 231; -exports.UTF8MB4_SWEDISH_CI = 232; -exports.UTF8MB4_TURKISH_CI = 233; -exports.UTF8MB4_CZECH_CI = 234; -exports.UTF8MB4_DANISH_CI = 235; -exports.UTF8MB4_LITHUANIAN_CI = 236; -exports.UTF8MB4_SLOVAK_CI = 237; -exports.UTF8MB4_SPANISH2_CI = 238; -exports.UTF8MB4_ROMAN_CI = 239; -exports.UTF8MB4_PERSIAN_CI = 240; -exports.UTF8MB4_ESPERANTO_CI = 241; -exports.UTF8MB4_HUNGARIAN_CI = 242; -exports.UTF8MB4_SINHALA_CI = 243; -exports.UTF8MB4_GERMAN2_CI = 244; -exports.UTF8MB4_CROATIAN_MYSQL561_CI = 245; -exports.UTF8MB4_UNICODE_520_CI = 246; -exports.UTF8MB4_VIETNAMESE_CI = 247; -exports.UTF8_GENERAL50_CI = 253; - -// short aliases -exports.ARMSCII8 = exports.ARMSCII8_GENERAL_CI; -exports.ASCII = exports.ASCII_GENERAL_CI; -exports.BIG5 = exports.BIG5_CHINESE_CI; -exports.BINARY = exports.BINARY; -exports.CP1250 = exports.CP1250_GENERAL_CI; -exports.CP1251 = exports.CP1251_GENERAL_CI; -exports.CP1256 = exports.CP1256_GENERAL_CI; -exports.CP1257 = exports.CP1257_GENERAL_CI; -exports.CP866 = exports.CP866_GENERAL_CI; -exports.CP850 = exports.CP850_GENERAL_CI; -exports.CP852 = exports.CP852_GENERAL_CI; -exports.CP932 = exports.CP932_JAPANESE_CI; -exports.DEC8 = exports.DEC8_SWEDISH_CI; -exports.EUCJPMS = exports.EUCJPMS_JAPANESE_CI; -exports.EUCKR = exports.EUCKR_KOREAN_CI; -exports.GB2312 = exports.GB2312_CHINESE_CI; -exports.GBK = exports.GBK_CHINESE_CI; -exports.GEOSTD8 = exports.GEOSTD8_GENERAL_CI; -exports.GREEK = exports.GREEK_GENERAL_CI; -exports.HEBREW = exports.HEBREW_GENERAL_CI; -exports.HP8 = exports.HP8_ENGLISH_CI; -exports.KEYBCS2 = exports.KEYBCS2_GENERAL_CI; -exports.KOI8R = exports.KOI8R_GENERAL_CI; -exports.KOI8U = exports.KOI8U_GENERAL_CI; -exports.LATIN1 = exports.LATIN1_SWEDISH_CI; -exports.LATIN2 = exports.LATIN2_GENERAL_CI; -exports.LATIN5 = exports.LATIN5_TURKISH_CI; -exports.LATIN7 = exports.LATIN7_GENERAL_CI; -exports.MACCE = exports.MACCE_GENERAL_CI; -exports.MACROMAN = exports.MACROMAN_GENERAL_CI; -exports.SJIS = exports.SJIS_JAPANESE_CI; -exports.SWE7 = exports.SWE7_SWEDISH_CI; -exports.TIS620 = exports.TIS620_THAI_CI; -exports.UCS2 = exports.UCS2_GENERAL_CI; -exports.UJIS = exports.UJIS_JAPANESE_CI; -exports.UTF16 = exports.UTF16_GENERAL_CI; -exports.UTF16LE = exports.UTF16LE_GENERAL_CI; -exports.UTF8 = exports.UTF8_GENERAL_CI; -exports.UTF8MB4 = exports.UTF8MB4_GENERAL_CI; -exports.UTF32 = exports.UTF32_GENERAL_CI; diff --git a/node_modules/mysql/lib/protocol/constants/client.js b/node_modules/mysql/lib/protocol/constants/client.js deleted file mode 100644 index 59aadc6..0000000 --- a/node_modules/mysql/lib/protocol/constants/client.js +++ /dev/null @@ -1,26 +0,0 @@ -// Manually extracted from mysql-5.5.23/include/mysql_com.h -exports.CLIENT_LONG_PASSWORD = 1; /* new more secure passwords */ -exports.CLIENT_FOUND_ROWS = 2; /* Found instead of affected rows */ -exports.CLIENT_LONG_FLAG = 4; /* Get all column flags */ -exports.CLIENT_CONNECT_WITH_DB = 8; /* One can specify db on connect */ -exports.CLIENT_NO_SCHEMA = 16; /* Don't allow database.table.column */ -exports.CLIENT_COMPRESS = 32; /* Can use compression protocol */ -exports.CLIENT_ODBC = 64; /* Odbc client */ -exports.CLIENT_LOCAL_FILES = 128; /* Can use LOAD DATA LOCAL */ -exports.CLIENT_IGNORE_SPACE = 256; /* Ignore spaces before '(' */ -exports.CLIENT_PROTOCOL_41 = 512; /* New 4.1 protocol */ -exports.CLIENT_INTERACTIVE = 1024; /* This is an interactive client */ -exports.CLIENT_SSL = 2048; /* Switch to SSL after handshake */ -exports.CLIENT_IGNORE_SIGPIPE = 4096; /* IGNORE sigpipes */ -exports.CLIENT_TRANSACTIONS = 8192; /* Client knows about transactions */ -exports.CLIENT_RESERVED = 16384; /* Old flag for 4.1 protocol */ -exports.CLIENT_SECURE_CONNECTION = 32768; /* New 4.1 authentication */ - -exports.CLIENT_MULTI_STATEMENTS = 65536; /* Enable/disable multi-stmt support */ -exports.CLIENT_MULTI_RESULTS = 131072; /* Enable/disable multi-results */ -exports.CLIENT_PS_MULTI_RESULTS = 262144; /* Multi-results in PS-protocol */ - -exports.CLIENT_PLUGIN_AUTH = 524288; /* Client supports plugin authentication */ - -exports.CLIENT_SSL_VERIFY_SERVER_CERT = 1073741824; -exports.CLIENT_REMEMBER_OPTIONS = 2147483648; diff --git a/node_modules/mysql/lib/protocol/constants/errors.js b/node_modules/mysql/lib/protocol/constants/errors.js deleted file mode 100644 index e757741..0000000 --- a/node_modules/mysql/lib/protocol/constants/errors.js +++ /dev/null @@ -1,2476 +0,0 @@ -/** - * MySQL error constants - * - * Extracted from version 5.7.29 - * - * !! Generated by generate-error-constants.js, do not modify by hand !! - */ - -exports.EE_CANTCREATEFILE = 1; -exports.EE_READ = 2; -exports.EE_WRITE = 3; -exports.EE_BADCLOSE = 4; -exports.EE_OUTOFMEMORY = 5; -exports.EE_DELETE = 6; -exports.EE_LINK = 7; -exports.EE_EOFERR = 9; -exports.EE_CANTLOCK = 10; -exports.EE_CANTUNLOCK = 11; -exports.EE_DIR = 12; -exports.EE_STAT = 13; -exports.EE_CANT_CHSIZE = 14; -exports.EE_CANT_OPEN_STREAM = 15; -exports.EE_GETWD = 16; -exports.EE_SETWD = 17; -exports.EE_LINK_WARNING = 18; -exports.EE_OPEN_WARNING = 19; -exports.EE_DISK_FULL = 20; -exports.EE_CANT_MKDIR = 21; -exports.EE_UNKNOWN_CHARSET = 22; -exports.EE_OUT_OF_FILERESOURCES = 23; -exports.EE_CANT_READLINK = 24; -exports.EE_CANT_SYMLINK = 25; -exports.EE_REALPATH = 26; -exports.EE_SYNC = 27; -exports.EE_UNKNOWN_COLLATION = 28; -exports.EE_FILENOTFOUND = 29; -exports.EE_FILE_NOT_CLOSED = 30; -exports.EE_CHANGE_OWNERSHIP = 31; -exports.EE_CHANGE_PERMISSIONS = 32; -exports.EE_CANT_SEEK = 33; -exports.EE_CAPACITY_EXCEEDED = 34; -exports.HA_ERR_KEY_NOT_FOUND = 120; -exports.HA_ERR_FOUND_DUPP_KEY = 121; -exports.HA_ERR_INTERNAL_ERROR = 122; -exports.HA_ERR_RECORD_CHANGED = 123; -exports.HA_ERR_WRONG_INDEX = 124; -exports.HA_ERR_CRASHED = 126; -exports.HA_ERR_WRONG_IN_RECORD = 127; -exports.HA_ERR_OUT_OF_MEM = 128; -exports.HA_ERR_NOT_A_TABLE = 130; -exports.HA_ERR_WRONG_COMMAND = 131; -exports.HA_ERR_OLD_FILE = 132; -exports.HA_ERR_NO_ACTIVE_RECORD = 133; -exports.HA_ERR_RECORD_DELETED = 134; -exports.HA_ERR_RECORD_FILE_FULL = 135; -exports.HA_ERR_INDEX_FILE_FULL = 136; -exports.HA_ERR_END_OF_FILE = 137; -exports.HA_ERR_UNSUPPORTED = 138; -exports.HA_ERR_TOO_BIG_ROW = 139; -exports.HA_WRONG_CREATE_OPTION = 140; -exports.HA_ERR_FOUND_DUPP_UNIQUE = 141; -exports.HA_ERR_UNKNOWN_CHARSET = 142; -exports.HA_ERR_WRONG_MRG_TABLE_DEF = 143; -exports.HA_ERR_CRASHED_ON_REPAIR = 144; -exports.HA_ERR_CRASHED_ON_USAGE = 145; -exports.HA_ERR_LOCK_WAIT_TIMEOUT = 146; -exports.HA_ERR_LOCK_TABLE_FULL = 147; -exports.HA_ERR_READ_ONLY_TRANSACTION = 148; -exports.HA_ERR_LOCK_DEADLOCK = 149; -exports.HA_ERR_CANNOT_ADD_FOREIGN = 150; -exports.HA_ERR_NO_REFERENCED_ROW = 151; -exports.HA_ERR_ROW_IS_REFERENCED = 152; -exports.HA_ERR_NO_SAVEPOINT = 153; -exports.HA_ERR_NON_UNIQUE_BLOCK_SIZE = 154; -exports.HA_ERR_NO_SUCH_TABLE = 155; -exports.HA_ERR_TABLE_EXIST = 156; -exports.HA_ERR_NO_CONNECTION = 157; -exports.HA_ERR_NULL_IN_SPATIAL = 158; -exports.HA_ERR_TABLE_DEF_CHANGED = 159; -exports.HA_ERR_NO_PARTITION_FOUND = 160; -exports.HA_ERR_RBR_LOGGING_FAILED = 161; -exports.HA_ERR_DROP_INDEX_FK = 162; -exports.HA_ERR_FOREIGN_DUPLICATE_KEY = 163; -exports.HA_ERR_TABLE_NEEDS_UPGRADE = 164; -exports.HA_ERR_TABLE_READONLY = 165; -exports.HA_ERR_AUTOINC_READ_FAILED = 166; -exports.HA_ERR_AUTOINC_ERANGE = 167; -exports.HA_ERR_GENERIC = 168; -exports.HA_ERR_RECORD_IS_THE_SAME = 169; -exports.HA_ERR_LOGGING_IMPOSSIBLE = 170; -exports.HA_ERR_CORRUPT_EVENT = 171; -exports.HA_ERR_NEW_FILE = 172; -exports.HA_ERR_ROWS_EVENT_APPLY = 173; -exports.HA_ERR_INITIALIZATION = 174; -exports.HA_ERR_FILE_TOO_SHORT = 175; -exports.HA_ERR_WRONG_CRC = 176; -exports.HA_ERR_TOO_MANY_CONCURRENT_TRXS = 177; -exports.HA_ERR_NOT_IN_LOCK_PARTITIONS = 178; -exports.HA_ERR_INDEX_COL_TOO_LONG = 179; -exports.HA_ERR_INDEX_CORRUPT = 180; -exports.HA_ERR_UNDO_REC_TOO_BIG = 181; -exports.HA_FTS_INVALID_DOCID = 182; -exports.HA_ERR_TABLE_IN_FK_CHECK = 183; -exports.HA_ERR_TABLESPACE_EXISTS = 184; -exports.HA_ERR_TOO_MANY_FIELDS = 185; -exports.HA_ERR_ROW_IN_WRONG_PARTITION = 186; -exports.HA_ERR_INNODB_READ_ONLY = 187; -exports.HA_ERR_FTS_EXCEED_RESULT_CACHE_LIMIT = 188; -exports.HA_ERR_TEMP_FILE_WRITE_FAILURE = 189; -exports.HA_ERR_INNODB_FORCED_RECOVERY = 190; -exports.HA_ERR_FTS_TOO_MANY_WORDS_IN_PHRASE = 191; -exports.HA_ERR_FK_DEPTH_EXCEEDED = 192; -exports.HA_MISSING_CREATE_OPTION = 193; -exports.HA_ERR_SE_OUT_OF_MEMORY = 194; -exports.HA_ERR_TABLE_CORRUPT = 195; -exports.HA_ERR_QUERY_INTERRUPTED = 196; -exports.HA_ERR_TABLESPACE_MISSING = 197; -exports.HA_ERR_TABLESPACE_IS_NOT_EMPTY = 198; -exports.HA_ERR_WRONG_FILE_NAME = 199; -exports.HA_ERR_NOT_ALLOWED_COMMAND = 200; -exports.HA_ERR_COMPUTE_FAILED = 201; -exports.ER_HASHCHK = 1000; -exports.ER_NISAMCHK = 1001; -exports.ER_NO = 1002; -exports.ER_YES = 1003; -exports.ER_CANT_CREATE_FILE = 1004; -exports.ER_CANT_CREATE_TABLE = 1005; -exports.ER_CANT_CREATE_DB = 1006; -exports.ER_DB_CREATE_EXISTS = 1007; -exports.ER_DB_DROP_EXISTS = 1008; -exports.ER_DB_DROP_DELETE = 1009; -exports.ER_DB_DROP_RMDIR = 1010; -exports.ER_CANT_DELETE_FILE = 1011; -exports.ER_CANT_FIND_SYSTEM_REC = 1012; -exports.ER_CANT_GET_STAT = 1013; -exports.ER_CANT_GET_WD = 1014; -exports.ER_CANT_LOCK = 1015; -exports.ER_CANT_OPEN_FILE = 1016; -exports.ER_FILE_NOT_FOUND = 1017; -exports.ER_CANT_READ_DIR = 1018; -exports.ER_CANT_SET_WD = 1019; -exports.ER_CHECKREAD = 1020; -exports.ER_DISK_FULL = 1021; -exports.ER_DUP_KEY = 1022; -exports.ER_ERROR_ON_CLOSE = 1023; -exports.ER_ERROR_ON_READ = 1024; -exports.ER_ERROR_ON_RENAME = 1025; -exports.ER_ERROR_ON_WRITE = 1026; -exports.ER_FILE_USED = 1027; -exports.ER_FILSORT_ABORT = 1028; -exports.ER_FORM_NOT_FOUND = 1029; -exports.ER_GET_ERRNO = 1030; -exports.ER_ILLEGAL_HA = 1031; -exports.ER_KEY_NOT_FOUND = 1032; -exports.ER_NOT_FORM_FILE = 1033; -exports.ER_NOT_KEYFILE = 1034; -exports.ER_OLD_KEYFILE = 1035; -exports.ER_OPEN_AS_READONLY = 1036; -exports.ER_OUTOFMEMORY = 1037; -exports.ER_OUT_OF_SORTMEMORY = 1038; -exports.ER_UNEXPECTED_EOF = 1039; -exports.ER_CON_COUNT_ERROR = 1040; -exports.ER_OUT_OF_RESOURCES = 1041; -exports.ER_BAD_HOST_ERROR = 1042; -exports.ER_HANDSHAKE_ERROR = 1043; -exports.ER_DBACCESS_DENIED_ERROR = 1044; -exports.ER_ACCESS_DENIED_ERROR = 1045; -exports.ER_NO_DB_ERROR = 1046; -exports.ER_UNKNOWN_COM_ERROR = 1047; -exports.ER_BAD_NULL_ERROR = 1048; -exports.ER_BAD_DB_ERROR = 1049; -exports.ER_TABLE_EXISTS_ERROR = 1050; -exports.ER_BAD_TABLE_ERROR = 1051; -exports.ER_NON_UNIQ_ERROR = 1052; -exports.ER_SERVER_SHUTDOWN = 1053; -exports.ER_BAD_FIELD_ERROR = 1054; -exports.ER_WRONG_FIELD_WITH_GROUP = 1055; -exports.ER_WRONG_GROUP_FIELD = 1056; -exports.ER_WRONG_SUM_SELECT = 1057; -exports.ER_WRONG_VALUE_COUNT = 1058; -exports.ER_TOO_LONG_IDENT = 1059; -exports.ER_DUP_FIELDNAME = 1060; -exports.ER_DUP_KEYNAME = 1061; -exports.ER_DUP_ENTRY = 1062; -exports.ER_WRONG_FIELD_SPEC = 1063; -exports.ER_PARSE_ERROR = 1064; -exports.ER_EMPTY_QUERY = 1065; -exports.ER_NONUNIQ_TABLE = 1066; -exports.ER_INVALID_DEFAULT = 1067; -exports.ER_MULTIPLE_PRI_KEY = 1068; -exports.ER_TOO_MANY_KEYS = 1069; -exports.ER_TOO_MANY_KEY_PARTS = 1070; -exports.ER_TOO_LONG_KEY = 1071; -exports.ER_KEY_COLUMN_DOES_NOT_EXITS = 1072; -exports.ER_BLOB_USED_AS_KEY = 1073; -exports.ER_TOO_BIG_FIELDLENGTH = 1074; -exports.ER_WRONG_AUTO_KEY = 1075; -exports.ER_READY = 1076; -exports.ER_NORMAL_SHUTDOWN = 1077; -exports.ER_GOT_SIGNAL = 1078; -exports.ER_SHUTDOWN_COMPLETE = 1079; -exports.ER_FORCING_CLOSE = 1080; -exports.ER_IPSOCK_ERROR = 1081; -exports.ER_NO_SUCH_INDEX = 1082; -exports.ER_WRONG_FIELD_TERMINATORS = 1083; -exports.ER_BLOBS_AND_NO_TERMINATED = 1084; -exports.ER_TEXTFILE_NOT_READABLE = 1085; -exports.ER_FILE_EXISTS_ERROR = 1086; -exports.ER_LOAD_INFO = 1087; -exports.ER_ALTER_INFO = 1088; -exports.ER_WRONG_SUB_KEY = 1089; -exports.ER_CANT_REMOVE_ALL_FIELDS = 1090; -exports.ER_CANT_DROP_FIELD_OR_KEY = 1091; -exports.ER_INSERT_INFO = 1092; -exports.ER_UPDATE_TABLE_USED = 1093; -exports.ER_NO_SUCH_THREAD = 1094; -exports.ER_KILL_DENIED_ERROR = 1095; -exports.ER_NO_TABLES_USED = 1096; -exports.ER_TOO_BIG_SET = 1097; -exports.ER_NO_UNIQUE_LOGFILE = 1098; -exports.ER_TABLE_NOT_LOCKED_FOR_WRITE = 1099; -exports.ER_TABLE_NOT_LOCKED = 1100; -exports.ER_BLOB_CANT_HAVE_DEFAULT = 1101; -exports.ER_WRONG_DB_NAME = 1102; -exports.ER_WRONG_TABLE_NAME = 1103; -exports.ER_TOO_BIG_SELECT = 1104; -exports.ER_UNKNOWN_ERROR = 1105; -exports.ER_UNKNOWN_PROCEDURE = 1106; -exports.ER_WRONG_PARAMCOUNT_TO_PROCEDURE = 1107; -exports.ER_WRONG_PARAMETERS_TO_PROCEDURE = 1108; -exports.ER_UNKNOWN_TABLE = 1109; -exports.ER_FIELD_SPECIFIED_TWICE = 1110; -exports.ER_INVALID_GROUP_FUNC_USE = 1111; -exports.ER_UNSUPPORTED_EXTENSION = 1112; -exports.ER_TABLE_MUST_HAVE_COLUMNS = 1113; -exports.ER_RECORD_FILE_FULL = 1114; -exports.ER_UNKNOWN_CHARACTER_SET = 1115; -exports.ER_TOO_MANY_TABLES = 1116; -exports.ER_TOO_MANY_FIELDS = 1117; -exports.ER_TOO_BIG_ROWSIZE = 1118; -exports.ER_STACK_OVERRUN = 1119; -exports.ER_WRONG_OUTER_JOIN = 1120; -exports.ER_NULL_COLUMN_IN_INDEX = 1121; -exports.ER_CANT_FIND_UDF = 1122; -exports.ER_CANT_INITIALIZE_UDF = 1123; -exports.ER_UDF_NO_PATHS = 1124; -exports.ER_UDF_EXISTS = 1125; -exports.ER_CANT_OPEN_LIBRARY = 1126; -exports.ER_CANT_FIND_DL_ENTRY = 1127; -exports.ER_FUNCTION_NOT_DEFINED = 1128; -exports.ER_HOST_IS_BLOCKED = 1129; -exports.ER_HOST_NOT_PRIVILEGED = 1130; -exports.ER_PASSWORD_ANONYMOUS_USER = 1131; -exports.ER_PASSWORD_NOT_ALLOWED = 1132; -exports.ER_PASSWORD_NO_MATCH = 1133; -exports.ER_UPDATE_INFO = 1134; -exports.ER_CANT_CREATE_THREAD = 1135; -exports.ER_WRONG_VALUE_COUNT_ON_ROW = 1136; -exports.ER_CANT_REOPEN_TABLE = 1137; -exports.ER_INVALID_USE_OF_NULL = 1138; -exports.ER_REGEXP_ERROR = 1139; -exports.ER_MIX_OF_GROUP_FUNC_AND_FIELDS = 1140; -exports.ER_NONEXISTING_GRANT = 1141; -exports.ER_TABLEACCESS_DENIED_ERROR = 1142; -exports.ER_COLUMNACCESS_DENIED_ERROR = 1143; -exports.ER_ILLEGAL_GRANT_FOR_TABLE = 1144; -exports.ER_GRANT_WRONG_HOST_OR_USER = 1145; -exports.ER_NO_SUCH_TABLE = 1146; -exports.ER_NONEXISTING_TABLE_GRANT = 1147; -exports.ER_NOT_ALLOWED_COMMAND = 1148; -exports.ER_SYNTAX_ERROR = 1149; -exports.ER_DELAYED_CANT_CHANGE_LOCK = 1150; -exports.ER_TOO_MANY_DELAYED_THREADS = 1151; -exports.ER_ABORTING_CONNECTION = 1152; -exports.ER_NET_PACKET_TOO_LARGE = 1153; -exports.ER_NET_READ_ERROR_FROM_PIPE = 1154; -exports.ER_NET_FCNTL_ERROR = 1155; -exports.ER_NET_PACKETS_OUT_OF_ORDER = 1156; -exports.ER_NET_UNCOMPRESS_ERROR = 1157; -exports.ER_NET_READ_ERROR = 1158; -exports.ER_NET_READ_INTERRUPTED = 1159; -exports.ER_NET_ERROR_ON_WRITE = 1160; -exports.ER_NET_WRITE_INTERRUPTED = 1161; -exports.ER_TOO_LONG_STRING = 1162; -exports.ER_TABLE_CANT_HANDLE_BLOB = 1163; -exports.ER_TABLE_CANT_HANDLE_AUTO_INCREMENT = 1164; -exports.ER_DELAYED_INSERT_TABLE_LOCKED = 1165; -exports.ER_WRONG_COLUMN_NAME = 1166; -exports.ER_WRONG_KEY_COLUMN = 1167; -exports.ER_WRONG_MRG_TABLE = 1168; -exports.ER_DUP_UNIQUE = 1169; -exports.ER_BLOB_KEY_WITHOUT_LENGTH = 1170; -exports.ER_PRIMARY_CANT_HAVE_NULL = 1171; -exports.ER_TOO_MANY_ROWS = 1172; -exports.ER_REQUIRES_PRIMARY_KEY = 1173; -exports.ER_NO_RAID_COMPILED = 1174; -exports.ER_UPDATE_WITHOUT_KEY_IN_SAFE_MODE = 1175; -exports.ER_KEY_DOES_NOT_EXITS = 1176; -exports.ER_CHECK_NO_SUCH_TABLE = 1177; -exports.ER_CHECK_NOT_IMPLEMENTED = 1178; -exports.ER_CANT_DO_THIS_DURING_AN_TRANSACTION = 1179; -exports.ER_ERROR_DURING_COMMIT = 1180; -exports.ER_ERROR_DURING_ROLLBACK = 1181; -exports.ER_ERROR_DURING_FLUSH_LOGS = 1182; -exports.ER_ERROR_DURING_CHECKPOINT = 1183; -exports.ER_NEW_ABORTING_CONNECTION = 1184; -exports.ER_DUMP_NOT_IMPLEMENTED = 1185; -exports.ER_FLUSH_MASTER_BINLOG_CLOSED = 1186; -exports.ER_INDEX_REBUILD = 1187; -exports.ER_MASTER = 1188; -exports.ER_MASTER_NET_READ = 1189; -exports.ER_MASTER_NET_WRITE = 1190; -exports.ER_FT_MATCHING_KEY_NOT_FOUND = 1191; -exports.ER_LOCK_OR_ACTIVE_TRANSACTION = 1192; -exports.ER_UNKNOWN_SYSTEM_VARIABLE = 1193; -exports.ER_CRASHED_ON_USAGE = 1194; -exports.ER_CRASHED_ON_REPAIR = 1195; -exports.ER_WARNING_NOT_COMPLETE_ROLLBACK = 1196; -exports.ER_TRANS_CACHE_FULL = 1197; -exports.ER_SLAVE_MUST_STOP = 1198; -exports.ER_SLAVE_NOT_RUNNING = 1199; -exports.ER_BAD_SLAVE = 1200; -exports.ER_MASTER_INFO = 1201; -exports.ER_SLAVE_THREAD = 1202; -exports.ER_TOO_MANY_USER_CONNECTIONS = 1203; -exports.ER_SET_CONSTANTS_ONLY = 1204; -exports.ER_LOCK_WAIT_TIMEOUT = 1205; -exports.ER_LOCK_TABLE_FULL = 1206; -exports.ER_READ_ONLY_TRANSACTION = 1207; -exports.ER_DROP_DB_WITH_READ_LOCK = 1208; -exports.ER_CREATE_DB_WITH_READ_LOCK = 1209; -exports.ER_WRONG_ARGUMENTS = 1210; -exports.ER_NO_PERMISSION_TO_CREATE_USER = 1211; -exports.ER_UNION_TABLES_IN_DIFFERENT_DIR = 1212; -exports.ER_LOCK_DEADLOCK = 1213; -exports.ER_TABLE_CANT_HANDLE_FT = 1214; -exports.ER_CANNOT_ADD_FOREIGN = 1215; -exports.ER_NO_REFERENCED_ROW = 1216; -exports.ER_ROW_IS_REFERENCED = 1217; -exports.ER_CONNECT_TO_MASTER = 1218; -exports.ER_QUERY_ON_MASTER = 1219; -exports.ER_ERROR_WHEN_EXECUTING_COMMAND = 1220; -exports.ER_WRONG_USAGE = 1221; -exports.ER_WRONG_NUMBER_OF_COLUMNS_IN_SELECT = 1222; -exports.ER_CANT_UPDATE_WITH_READLOCK = 1223; -exports.ER_MIXING_NOT_ALLOWED = 1224; -exports.ER_DUP_ARGUMENT = 1225; -exports.ER_USER_LIMIT_REACHED = 1226; -exports.ER_SPECIFIC_ACCESS_DENIED_ERROR = 1227; -exports.ER_LOCAL_VARIABLE = 1228; -exports.ER_GLOBAL_VARIABLE = 1229; -exports.ER_NO_DEFAULT = 1230; -exports.ER_WRONG_VALUE_FOR_VAR = 1231; -exports.ER_WRONG_TYPE_FOR_VAR = 1232; -exports.ER_VAR_CANT_BE_READ = 1233; -exports.ER_CANT_USE_OPTION_HERE = 1234; -exports.ER_NOT_SUPPORTED_YET = 1235; -exports.ER_MASTER_FATAL_ERROR_READING_BINLOG = 1236; -exports.ER_SLAVE_IGNORED_TABLE = 1237; -exports.ER_INCORRECT_GLOBAL_LOCAL_VAR = 1238; -exports.ER_WRONG_FK_DEF = 1239; -exports.ER_KEY_REF_DO_NOT_MATCH_TABLE_REF = 1240; -exports.ER_OPERAND_COLUMNS = 1241; -exports.ER_SUBQUERY_NO_1_ROW = 1242; -exports.ER_UNKNOWN_STMT_HANDLER = 1243; -exports.ER_CORRUPT_HELP_DB = 1244; -exports.ER_CYCLIC_REFERENCE = 1245; -exports.ER_AUTO_CONVERT = 1246; -exports.ER_ILLEGAL_REFERENCE = 1247; -exports.ER_DERIVED_MUST_HAVE_ALIAS = 1248; -exports.ER_SELECT_REDUCED = 1249; -exports.ER_TABLENAME_NOT_ALLOWED_HERE = 1250; -exports.ER_NOT_SUPPORTED_AUTH_MODE = 1251; -exports.ER_SPATIAL_CANT_HAVE_NULL = 1252; -exports.ER_COLLATION_CHARSET_MISMATCH = 1253; -exports.ER_SLAVE_WAS_RUNNING = 1254; -exports.ER_SLAVE_WAS_NOT_RUNNING = 1255; -exports.ER_TOO_BIG_FOR_UNCOMPRESS = 1256; -exports.ER_ZLIB_Z_MEM_ERROR = 1257; -exports.ER_ZLIB_Z_BUF_ERROR = 1258; -exports.ER_ZLIB_Z_DATA_ERROR = 1259; -exports.ER_CUT_VALUE_GROUP_CONCAT = 1260; -exports.ER_WARN_TOO_FEW_RECORDS = 1261; -exports.ER_WARN_TOO_MANY_RECORDS = 1262; -exports.ER_WARN_NULL_TO_NOTNULL = 1263; -exports.ER_WARN_DATA_OUT_OF_RANGE = 1264; -exports.WARN_DATA_TRUNCATED = 1265; -exports.ER_WARN_USING_OTHER_HANDLER = 1266; -exports.ER_CANT_AGGREGATE_2COLLATIONS = 1267; -exports.ER_DROP_USER = 1268; -exports.ER_REVOKE_GRANTS = 1269; -exports.ER_CANT_AGGREGATE_3COLLATIONS = 1270; -exports.ER_CANT_AGGREGATE_NCOLLATIONS = 1271; -exports.ER_VARIABLE_IS_NOT_STRUCT = 1272; -exports.ER_UNKNOWN_COLLATION = 1273; -exports.ER_SLAVE_IGNORED_SSL_PARAMS = 1274; -exports.ER_SERVER_IS_IN_SECURE_AUTH_MODE = 1275; -exports.ER_WARN_FIELD_RESOLVED = 1276; -exports.ER_BAD_SLAVE_UNTIL_COND = 1277; -exports.ER_MISSING_SKIP_SLAVE = 1278; -exports.ER_UNTIL_COND_IGNORED = 1279; -exports.ER_WRONG_NAME_FOR_INDEX = 1280; -exports.ER_WRONG_NAME_FOR_CATALOG = 1281; -exports.ER_WARN_QC_RESIZE = 1282; -exports.ER_BAD_FT_COLUMN = 1283; -exports.ER_UNKNOWN_KEY_CACHE = 1284; -exports.ER_WARN_HOSTNAME_WONT_WORK = 1285; -exports.ER_UNKNOWN_STORAGE_ENGINE = 1286; -exports.ER_WARN_DEPRECATED_SYNTAX = 1287; -exports.ER_NON_UPDATABLE_TABLE = 1288; -exports.ER_FEATURE_DISABLED = 1289; -exports.ER_OPTION_PREVENTS_STATEMENT = 1290; -exports.ER_DUPLICATED_VALUE_IN_TYPE = 1291; -exports.ER_TRUNCATED_WRONG_VALUE = 1292; -exports.ER_TOO_MUCH_AUTO_TIMESTAMP_COLS = 1293; -exports.ER_INVALID_ON_UPDATE = 1294; -exports.ER_UNSUPPORTED_PS = 1295; -exports.ER_GET_ERRMSG = 1296; -exports.ER_GET_TEMPORARY_ERRMSG = 1297; -exports.ER_UNKNOWN_TIME_ZONE = 1298; -exports.ER_WARN_INVALID_TIMESTAMP = 1299; -exports.ER_INVALID_CHARACTER_STRING = 1300; -exports.ER_WARN_ALLOWED_PACKET_OVERFLOWED = 1301; -exports.ER_CONFLICTING_DECLARATIONS = 1302; -exports.ER_SP_NO_RECURSIVE_CREATE = 1303; -exports.ER_SP_ALREADY_EXISTS = 1304; -exports.ER_SP_DOES_NOT_EXIST = 1305; -exports.ER_SP_DROP_FAILED = 1306; -exports.ER_SP_STORE_FAILED = 1307; -exports.ER_SP_LILABEL_MISMATCH = 1308; -exports.ER_SP_LABEL_REDEFINE = 1309; -exports.ER_SP_LABEL_MISMATCH = 1310; -exports.ER_SP_UNINIT_VAR = 1311; -exports.ER_SP_BADSELECT = 1312; -exports.ER_SP_BADRETURN = 1313; -exports.ER_SP_BADSTATEMENT = 1314; -exports.ER_UPDATE_LOG_DEPRECATED_IGNORED = 1315; -exports.ER_UPDATE_LOG_DEPRECATED_TRANSLATED = 1316; -exports.ER_QUERY_INTERRUPTED = 1317; -exports.ER_SP_WRONG_NO_OF_ARGS = 1318; -exports.ER_SP_COND_MISMATCH = 1319; -exports.ER_SP_NORETURN = 1320; -exports.ER_SP_NORETURNEND = 1321; -exports.ER_SP_BAD_CURSOR_QUERY = 1322; -exports.ER_SP_BAD_CURSOR_SELECT = 1323; -exports.ER_SP_CURSOR_MISMATCH = 1324; -exports.ER_SP_CURSOR_ALREADY_OPEN = 1325; -exports.ER_SP_CURSOR_NOT_OPEN = 1326; -exports.ER_SP_UNDECLARED_VAR = 1327; -exports.ER_SP_WRONG_NO_OF_FETCH_ARGS = 1328; -exports.ER_SP_FETCH_NO_DATA = 1329; -exports.ER_SP_DUP_PARAM = 1330; -exports.ER_SP_DUP_VAR = 1331; -exports.ER_SP_DUP_COND = 1332; -exports.ER_SP_DUP_CURS = 1333; -exports.ER_SP_CANT_ALTER = 1334; -exports.ER_SP_SUBSELECT_NYI = 1335; -exports.ER_STMT_NOT_ALLOWED_IN_SF_OR_TRG = 1336; -exports.ER_SP_VARCOND_AFTER_CURSHNDLR = 1337; -exports.ER_SP_CURSOR_AFTER_HANDLER = 1338; -exports.ER_SP_CASE_NOT_FOUND = 1339; -exports.ER_FPARSER_TOO_BIG_FILE = 1340; -exports.ER_FPARSER_BAD_HEADER = 1341; -exports.ER_FPARSER_EOF_IN_COMMENT = 1342; -exports.ER_FPARSER_ERROR_IN_PARAMETER = 1343; -exports.ER_FPARSER_EOF_IN_UNKNOWN_PARAMETER = 1344; -exports.ER_VIEW_NO_EXPLAIN = 1345; -exports.ER_FRM_UNKNOWN_TYPE = 1346; -exports.ER_WRONG_OBJECT = 1347; -exports.ER_NONUPDATEABLE_COLUMN = 1348; -exports.ER_VIEW_SELECT_DERIVED = 1349; -exports.ER_VIEW_SELECT_CLAUSE = 1350; -exports.ER_VIEW_SELECT_VARIABLE = 1351; -exports.ER_VIEW_SELECT_TMPTABLE = 1352; -exports.ER_VIEW_WRONG_LIST = 1353; -exports.ER_WARN_VIEW_MERGE = 1354; -exports.ER_WARN_VIEW_WITHOUT_KEY = 1355; -exports.ER_VIEW_INVALID = 1356; -exports.ER_SP_NO_DROP_SP = 1357; -exports.ER_SP_GOTO_IN_HNDLR = 1358; -exports.ER_TRG_ALREADY_EXISTS = 1359; -exports.ER_TRG_DOES_NOT_EXIST = 1360; -exports.ER_TRG_ON_VIEW_OR_TEMP_TABLE = 1361; -exports.ER_TRG_CANT_CHANGE_ROW = 1362; -exports.ER_TRG_NO_SUCH_ROW_IN_TRG = 1363; -exports.ER_NO_DEFAULT_FOR_FIELD = 1364; -exports.ER_DIVISION_BY_ZERO = 1365; -exports.ER_TRUNCATED_WRONG_VALUE_FOR_FIELD = 1366; -exports.ER_ILLEGAL_VALUE_FOR_TYPE = 1367; -exports.ER_VIEW_NONUPD_CHECK = 1368; -exports.ER_VIEW_CHECK_FAILED = 1369; -exports.ER_PROCACCESS_DENIED_ERROR = 1370; -exports.ER_RELAY_LOG_FAIL = 1371; -exports.ER_PASSWD_LENGTH = 1372; -exports.ER_UNKNOWN_TARGET_BINLOG = 1373; -exports.ER_IO_ERR_LOG_INDEX_READ = 1374; -exports.ER_BINLOG_PURGE_PROHIBITED = 1375; -exports.ER_FSEEK_FAIL = 1376; -exports.ER_BINLOG_PURGE_FATAL_ERR = 1377; -exports.ER_LOG_IN_USE = 1378; -exports.ER_LOG_PURGE_UNKNOWN_ERR = 1379; -exports.ER_RELAY_LOG_INIT = 1380; -exports.ER_NO_BINARY_LOGGING = 1381; -exports.ER_RESERVED_SYNTAX = 1382; -exports.ER_WSAS_FAILED = 1383; -exports.ER_DIFF_GROUPS_PROC = 1384; -exports.ER_NO_GROUP_FOR_PROC = 1385; -exports.ER_ORDER_WITH_PROC = 1386; -exports.ER_LOGGING_PROHIBIT_CHANGING_OF = 1387; -exports.ER_NO_FILE_MAPPING = 1388; -exports.ER_WRONG_MAGIC = 1389; -exports.ER_PS_MANY_PARAM = 1390; -exports.ER_KEY_PART_0 = 1391; -exports.ER_VIEW_CHECKSUM = 1392; -exports.ER_VIEW_MULTIUPDATE = 1393; -exports.ER_VIEW_NO_INSERT_FIELD_LIST = 1394; -exports.ER_VIEW_DELETE_MERGE_VIEW = 1395; -exports.ER_CANNOT_USER = 1396; -exports.ER_XAER_NOTA = 1397; -exports.ER_XAER_INVAL = 1398; -exports.ER_XAER_RMFAIL = 1399; -exports.ER_XAER_OUTSIDE = 1400; -exports.ER_XAER_RMERR = 1401; -exports.ER_XA_RBROLLBACK = 1402; -exports.ER_NONEXISTING_PROC_GRANT = 1403; -exports.ER_PROC_AUTO_GRANT_FAIL = 1404; -exports.ER_PROC_AUTO_REVOKE_FAIL = 1405; -exports.ER_DATA_TOO_LONG = 1406; -exports.ER_SP_BAD_SQLSTATE = 1407; -exports.ER_STARTUP = 1408; -exports.ER_LOAD_FROM_FIXED_SIZE_ROWS_TO_VAR = 1409; -exports.ER_CANT_CREATE_USER_WITH_GRANT = 1410; -exports.ER_WRONG_VALUE_FOR_TYPE = 1411; -exports.ER_TABLE_DEF_CHANGED = 1412; -exports.ER_SP_DUP_HANDLER = 1413; -exports.ER_SP_NOT_VAR_ARG = 1414; -exports.ER_SP_NO_RETSET = 1415; -exports.ER_CANT_CREATE_GEOMETRY_OBJECT = 1416; -exports.ER_FAILED_ROUTINE_BREAK_BINLOG = 1417; -exports.ER_BINLOG_UNSAFE_ROUTINE = 1418; -exports.ER_BINLOG_CREATE_ROUTINE_NEED_SUPER = 1419; -exports.ER_EXEC_STMT_WITH_OPEN_CURSOR = 1420; -exports.ER_STMT_HAS_NO_OPEN_CURSOR = 1421; -exports.ER_COMMIT_NOT_ALLOWED_IN_SF_OR_TRG = 1422; -exports.ER_NO_DEFAULT_FOR_VIEW_FIELD = 1423; -exports.ER_SP_NO_RECURSION = 1424; -exports.ER_TOO_BIG_SCALE = 1425; -exports.ER_TOO_BIG_PRECISION = 1426; -exports.ER_M_BIGGER_THAN_D = 1427; -exports.ER_WRONG_LOCK_OF_SYSTEM_TABLE = 1428; -exports.ER_CONNECT_TO_FOREIGN_DATA_SOURCE = 1429; -exports.ER_QUERY_ON_FOREIGN_DATA_SOURCE = 1430; -exports.ER_FOREIGN_DATA_SOURCE_DOESNT_EXIST = 1431; -exports.ER_FOREIGN_DATA_STRING_INVALID_CANT_CREATE = 1432; -exports.ER_FOREIGN_DATA_STRING_INVALID = 1433; -exports.ER_CANT_CREATE_FEDERATED_TABLE = 1434; -exports.ER_TRG_IN_WRONG_SCHEMA = 1435; -exports.ER_STACK_OVERRUN_NEED_MORE = 1436; -exports.ER_TOO_LONG_BODY = 1437; -exports.ER_WARN_CANT_DROP_DEFAULT_KEYCACHE = 1438; -exports.ER_TOO_BIG_DISPLAYWIDTH = 1439; -exports.ER_XAER_DUPID = 1440; -exports.ER_DATETIME_FUNCTION_OVERFLOW = 1441; -exports.ER_CANT_UPDATE_USED_TABLE_IN_SF_OR_TRG = 1442; -exports.ER_VIEW_PREVENT_UPDATE = 1443; -exports.ER_PS_NO_RECURSION = 1444; -exports.ER_SP_CANT_SET_AUTOCOMMIT = 1445; -exports.ER_MALFORMED_DEFINER = 1446; -exports.ER_VIEW_FRM_NO_USER = 1447; -exports.ER_VIEW_OTHER_USER = 1448; -exports.ER_NO_SUCH_USER = 1449; -exports.ER_FORBID_SCHEMA_CHANGE = 1450; -exports.ER_ROW_IS_REFERENCED_2 = 1451; -exports.ER_NO_REFERENCED_ROW_2 = 1452; -exports.ER_SP_BAD_VAR_SHADOW = 1453; -exports.ER_TRG_NO_DEFINER = 1454; -exports.ER_OLD_FILE_FORMAT = 1455; -exports.ER_SP_RECURSION_LIMIT = 1456; -exports.ER_SP_PROC_TABLE_CORRUPT = 1457; -exports.ER_SP_WRONG_NAME = 1458; -exports.ER_TABLE_NEEDS_UPGRADE = 1459; -exports.ER_SP_NO_AGGREGATE = 1460; -exports.ER_MAX_PREPARED_STMT_COUNT_REACHED = 1461; -exports.ER_VIEW_RECURSIVE = 1462; -exports.ER_NON_GROUPING_FIELD_USED = 1463; -exports.ER_TABLE_CANT_HANDLE_SPKEYS = 1464; -exports.ER_NO_TRIGGERS_ON_SYSTEM_SCHEMA = 1465; -exports.ER_REMOVED_SPACES = 1466; -exports.ER_AUTOINC_READ_FAILED = 1467; -exports.ER_USERNAME = 1468; -exports.ER_HOSTNAME = 1469; -exports.ER_WRONG_STRING_LENGTH = 1470; -exports.ER_NON_INSERTABLE_TABLE = 1471; -exports.ER_ADMIN_WRONG_MRG_TABLE = 1472; -exports.ER_TOO_HIGH_LEVEL_OF_NESTING_FOR_SELECT = 1473; -exports.ER_NAME_BECOMES_EMPTY = 1474; -exports.ER_AMBIGUOUS_FIELD_TERM = 1475; -exports.ER_FOREIGN_SERVER_EXISTS = 1476; -exports.ER_FOREIGN_SERVER_DOESNT_EXIST = 1477; -exports.ER_ILLEGAL_HA_CREATE_OPTION = 1478; -exports.ER_PARTITION_REQUIRES_VALUES_ERROR = 1479; -exports.ER_PARTITION_WRONG_VALUES_ERROR = 1480; -exports.ER_PARTITION_MAXVALUE_ERROR = 1481; -exports.ER_PARTITION_SUBPARTITION_ERROR = 1482; -exports.ER_PARTITION_SUBPART_MIX_ERROR = 1483; -exports.ER_PARTITION_WRONG_NO_PART_ERROR = 1484; -exports.ER_PARTITION_WRONG_NO_SUBPART_ERROR = 1485; -exports.ER_WRONG_EXPR_IN_PARTITION_FUNC_ERROR = 1486; -exports.ER_NO_CONST_EXPR_IN_RANGE_OR_LIST_ERROR = 1487; -exports.ER_FIELD_NOT_FOUND_PART_ERROR = 1488; -exports.ER_LIST_OF_FIELDS_ONLY_IN_HASH_ERROR = 1489; -exports.ER_INCONSISTENT_PARTITION_INFO_ERROR = 1490; -exports.ER_PARTITION_FUNC_NOT_ALLOWED_ERROR = 1491; -exports.ER_PARTITIONS_MUST_BE_DEFINED_ERROR = 1492; -exports.ER_RANGE_NOT_INCREASING_ERROR = 1493; -exports.ER_INCONSISTENT_TYPE_OF_FUNCTIONS_ERROR = 1494; -exports.ER_MULTIPLE_DEF_CONST_IN_LIST_PART_ERROR = 1495; -exports.ER_PARTITION_ENTRY_ERROR = 1496; -exports.ER_MIX_HANDLER_ERROR = 1497; -exports.ER_PARTITION_NOT_DEFINED_ERROR = 1498; -exports.ER_TOO_MANY_PARTITIONS_ERROR = 1499; -exports.ER_SUBPARTITION_ERROR = 1500; -exports.ER_CANT_CREATE_HANDLER_FILE = 1501; -exports.ER_BLOB_FIELD_IN_PART_FUNC_ERROR = 1502; -exports.ER_UNIQUE_KEY_NEED_ALL_FIELDS_IN_PF = 1503; -exports.ER_NO_PARTS_ERROR = 1504; -exports.ER_PARTITION_MGMT_ON_NONPARTITIONED = 1505; -exports.ER_FOREIGN_KEY_ON_PARTITIONED = 1506; -exports.ER_DROP_PARTITION_NON_EXISTENT = 1507; -exports.ER_DROP_LAST_PARTITION = 1508; -exports.ER_COALESCE_ONLY_ON_HASH_PARTITION = 1509; -exports.ER_REORG_HASH_ONLY_ON_SAME_NO = 1510; -exports.ER_REORG_NO_PARAM_ERROR = 1511; -exports.ER_ONLY_ON_RANGE_LIST_PARTITION = 1512; -exports.ER_ADD_PARTITION_SUBPART_ERROR = 1513; -exports.ER_ADD_PARTITION_NO_NEW_PARTITION = 1514; -exports.ER_COALESCE_PARTITION_NO_PARTITION = 1515; -exports.ER_REORG_PARTITION_NOT_EXIST = 1516; -exports.ER_SAME_NAME_PARTITION = 1517; -exports.ER_NO_BINLOG_ERROR = 1518; -exports.ER_CONSECUTIVE_REORG_PARTITIONS = 1519; -exports.ER_REORG_OUTSIDE_RANGE = 1520; -exports.ER_PARTITION_FUNCTION_FAILURE = 1521; -exports.ER_PART_STATE_ERROR = 1522; -exports.ER_LIMITED_PART_RANGE = 1523; -exports.ER_PLUGIN_IS_NOT_LOADED = 1524; -exports.ER_WRONG_VALUE = 1525; -exports.ER_NO_PARTITION_FOR_GIVEN_VALUE = 1526; -exports.ER_FILEGROUP_OPTION_ONLY_ONCE = 1527; -exports.ER_CREATE_FILEGROUP_FAILED = 1528; -exports.ER_DROP_FILEGROUP_FAILED = 1529; -exports.ER_TABLESPACE_AUTO_EXTEND_ERROR = 1530; -exports.ER_WRONG_SIZE_NUMBER = 1531; -exports.ER_SIZE_OVERFLOW_ERROR = 1532; -exports.ER_ALTER_FILEGROUP_FAILED = 1533; -exports.ER_BINLOG_ROW_LOGGING_FAILED = 1534; -exports.ER_BINLOG_ROW_WRONG_TABLE_DEF = 1535; -exports.ER_BINLOG_ROW_RBR_TO_SBR = 1536; -exports.ER_EVENT_ALREADY_EXISTS = 1537; -exports.ER_EVENT_STORE_FAILED = 1538; -exports.ER_EVENT_DOES_NOT_EXIST = 1539; -exports.ER_EVENT_CANT_ALTER = 1540; -exports.ER_EVENT_DROP_FAILED = 1541; -exports.ER_EVENT_INTERVAL_NOT_POSITIVE_OR_TOO_BIG = 1542; -exports.ER_EVENT_ENDS_BEFORE_STARTS = 1543; -exports.ER_EVENT_EXEC_TIME_IN_THE_PAST = 1544; -exports.ER_EVENT_OPEN_TABLE_FAILED = 1545; -exports.ER_EVENT_NEITHER_M_EXPR_NOR_M_AT = 1546; -exports.ER_COL_COUNT_DOESNT_MATCH_CORRUPTED = 1547; -exports.ER_CANNOT_LOAD_FROM_TABLE = 1548; -exports.ER_EVENT_CANNOT_DELETE = 1549; -exports.ER_EVENT_COMPILE_ERROR = 1550; -exports.ER_EVENT_SAME_NAME = 1551; -exports.ER_EVENT_DATA_TOO_LONG = 1552; -exports.ER_DROP_INDEX_FK = 1553; -exports.ER_WARN_DEPRECATED_SYNTAX_WITH_VER = 1554; -exports.ER_CANT_WRITE_LOCK_LOG_TABLE = 1555; -exports.ER_CANT_LOCK_LOG_TABLE = 1556; -exports.ER_FOREIGN_DUPLICATE_KEY = 1557; -exports.ER_COL_COUNT_DOESNT_MATCH_PLEASE_UPDATE = 1558; -exports.ER_TEMP_TABLE_PREVENTS_SWITCH_OUT_OF_RBR = 1559; -exports.ER_STORED_FUNCTION_PREVENTS_SWITCH_BINLOG_FORMAT = 1560; -exports.ER_NDB_CANT_SWITCH_BINLOG_FORMAT = 1561; -exports.ER_PARTITION_NO_TEMPORARY = 1562; -exports.ER_PARTITION_CONST_DOMAIN_ERROR = 1563; -exports.ER_PARTITION_FUNCTION_IS_NOT_ALLOWED = 1564; -exports.ER_DDL_LOG_ERROR = 1565; -exports.ER_NULL_IN_VALUES_LESS_THAN = 1566; -exports.ER_WRONG_PARTITION_NAME = 1567; -exports.ER_CANT_CHANGE_TX_CHARACTERISTICS = 1568; -exports.ER_DUP_ENTRY_AUTOINCREMENT_CASE = 1569; -exports.ER_EVENT_MODIFY_QUEUE_ERROR = 1570; -exports.ER_EVENT_SET_VAR_ERROR = 1571; -exports.ER_PARTITION_MERGE_ERROR = 1572; -exports.ER_CANT_ACTIVATE_LOG = 1573; -exports.ER_RBR_NOT_AVAILABLE = 1574; -exports.ER_BASE64_DECODE_ERROR = 1575; -exports.ER_EVENT_RECURSION_FORBIDDEN = 1576; -exports.ER_EVENTS_DB_ERROR = 1577; -exports.ER_ONLY_INTEGERS_ALLOWED = 1578; -exports.ER_UNSUPORTED_LOG_ENGINE = 1579; -exports.ER_BAD_LOG_STATEMENT = 1580; -exports.ER_CANT_RENAME_LOG_TABLE = 1581; -exports.ER_WRONG_PARAMCOUNT_TO_NATIVE_FCT = 1582; -exports.ER_WRONG_PARAMETERS_TO_NATIVE_FCT = 1583; -exports.ER_WRONG_PARAMETERS_TO_STORED_FCT = 1584; -exports.ER_NATIVE_FCT_NAME_COLLISION = 1585; -exports.ER_DUP_ENTRY_WITH_KEY_NAME = 1586; -exports.ER_BINLOG_PURGE_EMFILE = 1587; -exports.ER_EVENT_CANNOT_CREATE_IN_THE_PAST = 1588; -exports.ER_EVENT_CANNOT_ALTER_IN_THE_PAST = 1589; -exports.ER_SLAVE_INCIDENT = 1590; -exports.ER_NO_PARTITION_FOR_GIVEN_VALUE_SILENT = 1591; -exports.ER_BINLOG_UNSAFE_STATEMENT = 1592; -exports.ER_SLAVE_FATAL_ERROR = 1593; -exports.ER_SLAVE_RELAY_LOG_READ_FAILURE = 1594; -exports.ER_SLAVE_RELAY_LOG_WRITE_FAILURE = 1595; -exports.ER_SLAVE_CREATE_EVENT_FAILURE = 1596; -exports.ER_SLAVE_MASTER_COM_FAILURE = 1597; -exports.ER_BINLOG_LOGGING_IMPOSSIBLE = 1598; -exports.ER_VIEW_NO_CREATION_CTX = 1599; -exports.ER_VIEW_INVALID_CREATION_CTX = 1600; -exports.ER_SR_INVALID_CREATION_CTX = 1601; -exports.ER_TRG_CORRUPTED_FILE = 1602; -exports.ER_TRG_NO_CREATION_CTX = 1603; -exports.ER_TRG_INVALID_CREATION_CTX = 1604; -exports.ER_EVENT_INVALID_CREATION_CTX = 1605; -exports.ER_TRG_CANT_OPEN_TABLE = 1606; -exports.ER_CANT_CREATE_SROUTINE = 1607; -exports.ER_NEVER_USED = 1608; -exports.ER_NO_FORMAT_DESCRIPTION_EVENT_BEFORE_BINLOG_STATEMENT = 1609; -exports.ER_SLAVE_CORRUPT_EVENT = 1610; -exports.ER_LOAD_DATA_INVALID_COLUMN = 1611; -exports.ER_LOG_PURGE_NO_FILE = 1612; -exports.ER_XA_RBTIMEOUT = 1613; -exports.ER_XA_RBDEADLOCK = 1614; -exports.ER_NEED_REPREPARE = 1615; -exports.ER_DELAYED_NOT_SUPPORTED = 1616; -exports.WARN_NO_MASTER_INFO = 1617; -exports.WARN_OPTION_IGNORED = 1618; -exports.ER_PLUGIN_DELETE_BUILTIN = 1619; -exports.WARN_PLUGIN_BUSY = 1620; -exports.ER_VARIABLE_IS_READONLY = 1621; -exports.ER_WARN_ENGINE_TRANSACTION_ROLLBACK = 1622; -exports.ER_SLAVE_HEARTBEAT_FAILURE = 1623; -exports.ER_SLAVE_HEARTBEAT_VALUE_OUT_OF_RANGE = 1624; -exports.ER_NDB_REPLICATION_SCHEMA_ERROR = 1625; -exports.ER_CONFLICT_FN_PARSE_ERROR = 1626; -exports.ER_EXCEPTIONS_WRITE_ERROR = 1627; -exports.ER_TOO_LONG_TABLE_COMMENT = 1628; -exports.ER_TOO_LONG_FIELD_COMMENT = 1629; -exports.ER_FUNC_INEXISTENT_NAME_COLLISION = 1630; -exports.ER_DATABASE_NAME = 1631; -exports.ER_TABLE_NAME = 1632; -exports.ER_PARTITION_NAME = 1633; -exports.ER_SUBPARTITION_NAME = 1634; -exports.ER_TEMPORARY_NAME = 1635; -exports.ER_RENAMED_NAME = 1636; -exports.ER_TOO_MANY_CONCURRENT_TRXS = 1637; -exports.WARN_NON_ASCII_SEPARATOR_NOT_IMPLEMENTED = 1638; -exports.ER_DEBUG_SYNC_TIMEOUT = 1639; -exports.ER_DEBUG_SYNC_HIT_LIMIT = 1640; -exports.ER_DUP_SIGNAL_SET = 1641; -exports.ER_SIGNAL_WARN = 1642; -exports.ER_SIGNAL_NOT_FOUND = 1643; -exports.ER_SIGNAL_EXCEPTION = 1644; -exports.ER_RESIGNAL_WITHOUT_ACTIVE_HANDLER = 1645; -exports.ER_SIGNAL_BAD_CONDITION_TYPE = 1646; -exports.WARN_COND_ITEM_TRUNCATED = 1647; -exports.ER_COND_ITEM_TOO_LONG = 1648; -exports.ER_UNKNOWN_LOCALE = 1649; -exports.ER_SLAVE_IGNORE_SERVER_IDS = 1650; -exports.ER_QUERY_CACHE_DISABLED = 1651; -exports.ER_SAME_NAME_PARTITION_FIELD = 1652; -exports.ER_PARTITION_COLUMN_LIST_ERROR = 1653; -exports.ER_WRONG_TYPE_COLUMN_VALUE_ERROR = 1654; -exports.ER_TOO_MANY_PARTITION_FUNC_FIELDS_ERROR = 1655; -exports.ER_MAXVALUE_IN_VALUES_IN = 1656; -exports.ER_TOO_MANY_VALUES_ERROR = 1657; -exports.ER_ROW_SINGLE_PARTITION_FIELD_ERROR = 1658; -exports.ER_FIELD_TYPE_NOT_ALLOWED_AS_PARTITION_FIELD = 1659; -exports.ER_PARTITION_FIELDS_TOO_LONG = 1660; -exports.ER_BINLOG_ROW_ENGINE_AND_STMT_ENGINE = 1661; -exports.ER_BINLOG_ROW_MODE_AND_STMT_ENGINE = 1662; -exports.ER_BINLOG_UNSAFE_AND_STMT_ENGINE = 1663; -exports.ER_BINLOG_ROW_INJECTION_AND_STMT_ENGINE = 1664; -exports.ER_BINLOG_STMT_MODE_AND_ROW_ENGINE = 1665; -exports.ER_BINLOG_ROW_INJECTION_AND_STMT_MODE = 1666; -exports.ER_BINLOG_MULTIPLE_ENGINES_AND_SELF_LOGGING_ENGINE = 1667; -exports.ER_BINLOG_UNSAFE_LIMIT = 1668; -exports.ER_BINLOG_UNSAFE_INSERT_DELAYED = 1669; -exports.ER_BINLOG_UNSAFE_SYSTEM_TABLE = 1670; -exports.ER_BINLOG_UNSAFE_AUTOINC_COLUMNS = 1671; -exports.ER_BINLOG_UNSAFE_UDF = 1672; -exports.ER_BINLOG_UNSAFE_SYSTEM_VARIABLE = 1673; -exports.ER_BINLOG_UNSAFE_SYSTEM_FUNCTION = 1674; -exports.ER_BINLOG_UNSAFE_NONTRANS_AFTER_TRANS = 1675; -exports.ER_MESSAGE_AND_STATEMENT = 1676; -exports.ER_SLAVE_CONVERSION_FAILED = 1677; -exports.ER_SLAVE_CANT_CREATE_CONVERSION = 1678; -exports.ER_INSIDE_TRANSACTION_PREVENTS_SWITCH_BINLOG_FORMAT = 1679; -exports.ER_PATH_LENGTH = 1680; -exports.ER_WARN_DEPRECATED_SYNTAX_NO_REPLACEMENT = 1681; -exports.ER_WRONG_NATIVE_TABLE_STRUCTURE = 1682; -exports.ER_WRONG_PERFSCHEMA_USAGE = 1683; -exports.ER_WARN_I_S_SKIPPED_TABLE = 1684; -exports.ER_INSIDE_TRANSACTION_PREVENTS_SWITCH_BINLOG_DIRECT = 1685; -exports.ER_STORED_FUNCTION_PREVENTS_SWITCH_BINLOG_DIRECT = 1686; -exports.ER_SPATIAL_MUST_HAVE_GEOM_COL = 1687; -exports.ER_TOO_LONG_INDEX_COMMENT = 1688; -exports.ER_LOCK_ABORTED = 1689; -exports.ER_DATA_OUT_OF_RANGE = 1690; -exports.ER_WRONG_SPVAR_TYPE_IN_LIMIT = 1691; -exports.ER_BINLOG_UNSAFE_MULTIPLE_ENGINES_AND_SELF_LOGGING_ENGINE = 1692; -exports.ER_BINLOG_UNSAFE_MIXED_STATEMENT = 1693; -exports.ER_INSIDE_TRANSACTION_PREVENTS_SWITCH_SQL_LOG_BIN = 1694; -exports.ER_STORED_FUNCTION_PREVENTS_SWITCH_SQL_LOG_BIN = 1695; -exports.ER_FAILED_READ_FROM_PAR_FILE = 1696; -exports.ER_VALUES_IS_NOT_INT_TYPE_ERROR = 1697; -exports.ER_ACCESS_DENIED_NO_PASSWORD_ERROR = 1698; -exports.ER_SET_PASSWORD_AUTH_PLUGIN = 1699; -exports.ER_GRANT_PLUGIN_USER_EXISTS = 1700; -exports.ER_TRUNCATE_ILLEGAL_FK = 1701; -exports.ER_PLUGIN_IS_PERMANENT = 1702; -exports.ER_SLAVE_HEARTBEAT_VALUE_OUT_OF_RANGE_MIN = 1703; -exports.ER_SLAVE_HEARTBEAT_VALUE_OUT_OF_RANGE_MAX = 1704; -exports.ER_STMT_CACHE_FULL = 1705; -exports.ER_MULTI_UPDATE_KEY_CONFLICT = 1706; -exports.ER_TABLE_NEEDS_REBUILD = 1707; -exports.WARN_OPTION_BELOW_LIMIT = 1708; -exports.ER_INDEX_COLUMN_TOO_LONG = 1709; -exports.ER_ERROR_IN_TRIGGER_BODY = 1710; -exports.ER_ERROR_IN_UNKNOWN_TRIGGER_BODY = 1711; -exports.ER_INDEX_CORRUPT = 1712; -exports.ER_UNDO_RECORD_TOO_BIG = 1713; -exports.ER_BINLOG_UNSAFE_INSERT_IGNORE_SELECT = 1714; -exports.ER_BINLOG_UNSAFE_INSERT_SELECT_UPDATE = 1715; -exports.ER_BINLOG_UNSAFE_REPLACE_SELECT = 1716; -exports.ER_BINLOG_UNSAFE_CREATE_IGNORE_SELECT = 1717; -exports.ER_BINLOG_UNSAFE_CREATE_REPLACE_SELECT = 1718; -exports.ER_BINLOG_UNSAFE_UPDATE_IGNORE = 1719; -exports.ER_PLUGIN_NO_UNINSTALL = 1720; -exports.ER_PLUGIN_NO_INSTALL = 1721; -exports.ER_BINLOG_UNSAFE_WRITE_AUTOINC_SELECT = 1722; -exports.ER_BINLOG_UNSAFE_CREATE_SELECT_AUTOINC = 1723; -exports.ER_BINLOG_UNSAFE_INSERT_TWO_KEYS = 1724; -exports.ER_TABLE_IN_FK_CHECK = 1725; -exports.ER_UNSUPPORTED_ENGINE = 1726; -exports.ER_BINLOG_UNSAFE_AUTOINC_NOT_FIRST = 1727; -exports.ER_CANNOT_LOAD_FROM_TABLE_V2 = 1728; -exports.ER_MASTER_DELAY_VALUE_OUT_OF_RANGE = 1729; -exports.ER_ONLY_FD_AND_RBR_EVENTS_ALLOWED_IN_BINLOG_STATEMENT = 1730; -exports.ER_PARTITION_EXCHANGE_DIFFERENT_OPTION = 1731; -exports.ER_PARTITION_EXCHANGE_PART_TABLE = 1732; -exports.ER_PARTITION_EXCHANGE_TEMP_TABLE = 1733; -exports.ER_PARTITION_INSTEAD_OF_SUBPARTITION = 1734; -exports.ER_UNKNOWN_PARTITION = 1735; -exports.ER_TABLES_DIFFERENT_METADATA = 1736; -exports.ER_ROW_DOES_NOT_MATCH_PARTITION = 1737; -exports.ER_BINLOG_CACHE_SIZE_GREATER_THAN_MAX = 1738; -exports.ER_WARN_INDEX_NOT_APPLICABLE = 1739; -exports.ER_PARTITION_EXCHANGE_FOREIGN_KEY = 1740; -exports.ER_NO_SUCH_KEY_VALUE = 1741; -exports.ER_RPL_INFO_DATA_TOO_LONG = 1742; -exports.ER_NETWORK_READ_EVENT_CHECKSUM_FAILURE = 1743; -exports.ER_BINLOG_READ_EVENT_CHECKSUM_FAILURE = 1744; -exports.ER_BINLOG_STMT_CACHE_SIZE_GREATER_THAN_MAX = 1745; -exports.ER_CANT_UPDATE_TABLE_IN_CREATE_TABLE_SELECT = 1746; -exports.ER_PARTITION_CLAUSE_ON_NONPARTITIONED = 1747; -exports.ER_ROW_DOES_NOT_MATCH_GIVEN_PARTITION_SET = 1748; -exports.ER_NO_SUCH_PARTITION = 1749; -exports.ER_CHANGE_RPL_INFO_REPOSITORY_FAILURE = 1750; -exports.ER_WARNING_NOT_COMPLETE_ROLLBACK_WITH_CREATED_TEMP_TABLE = 1751; -exports.ER_WARNING_NOT_COMPLETE_ROLLBACK_WITH_DROPPED_TEMP_TABLE = 1752; -exports.ER_MTS_FEATURE_IS_NOT_SUPPORTED = 1753; -exports.ER_MTS_UPDATED_DBS_GREATER_MAX = 1754; -exports.ER_MTS_CANT_PARALLEL = 1755; -exports.ER_MTS_INCONSISTENT_DATA = 1756; -exports.ER_FULLTEXT_NOT_SUPPORTED_WITH_PARTITIONING = 1757; -exports.ER_DA_INVALID_CONDITION_NUMBER = 1758; -exports.ER_INSECURE_PLAIN_TEXT = 1759; -exports.ER_INSECURE_CHANGE_MASTER = 1760; -exports.ER_FOREIGN_DUPLICATE_KEY_WITH_CHILD_INFO = 1761; -exports.ER_FOREIGN_DUPLICATE_KEY_WITHOUT_CHILD_INFO = 1762; -exports.ER_SQLTHREAD_WITH_SECURE_SLAVE = 1763; -exports.ER_TABLE_HAS_NO_FT = 1764; -exports.ER_VARIABLE_NOT_SETTABLE_IN_SF_OR_TRIGGER = 1765; -exports.ER_VARIABLE_NOT_SETTABLE_IN_TRANSACTION = 1766; -exports.ER_GTID_NEXT_IS_NOT_IN_GTID_NEXT_LIST = 1767; -exports.ER_CANT_CHANGE_GTID_NEXT_IN_TRANSACTION = 1768; -exports.ER_SET_STATEMENT_CANNOT_INVOKE_FUNCTION = 1769; -exports.ER_GTID_NEXT_CANT_BE_AUTOMATIC_IF_GTID_NEXT_LIST_IS_NON_NULL = 1770; -exports.ER_SKIPPING_LOGGED_TRANSACTION = 1771; -exports.ER_MALFORMED_GTID_SET_SPECIFICATION = 1772; -exports.ER_MALFORMED_GTID_SET_ENCODING = 1773; -exports.ER_MALFORMED_GTID_SPECIFICATION = 1774; -exports.ER_GNO_EXHAUSTED = 1775; -exports.ER_BAD_SLAVE_AUTO_POSITION = 1776; -exports.ER_AUTO_POSITION_REQUIRES_GTID_MODE_NOT_OFF = 1777; -exports.ER_CANT_DO_IMPLICIT_COMMIT_IN_TRX_WHEN_GTID_NEXT_IS_SET = 1778; -exports.ER_GTID_MODE_ON_REQUIRES_ENFORCE_GTID_CONSISTENCY_ON = 1779; -exports.ER_GTID_MODE_REQUIRES_BINLOG = 1780; -exports.ER_CANT_SET_GTID_NEXT_TO_GTID_WHEN_GTID_MODE_IS_OFF = 1781; -exports.ER_CANT_SET_GTID_NEXT_TO_ANONYMOUS_WHEN_GTID_MODE_IS_ON = 1782; -exports.ER_CANT_SET_GTID_NEXT_LIST_TO_NON_NULL_WHEN_GTID_MODE_IS_OFF = 1783; -exports.ER_FOUND_GTID_EVENT_WHEN_GTID_MODE_IS_OFF = 1784; -exports.ER_GTID_UNSAFE_NON_TRANSACTIONAL_TABLE = 1785; -exports.ER_GTID_UNSAFE_CREATE_SELECT = 1786; -exports.ER_GTID_UNSAFE_CREATE_DROP_TEMPORARY_TABLE_IN_TRANSACTION = 1787; -exports.ER_GTID_MODE_CAN_ONLY_CHANGE_ONE_STEP_AT_A_TIME = 1788; -exports.ER_MASTER_HAS_PURGED_REQUIRED_GTIDS = 1789; -exports.ER_CANT_SET_GTID_NEXT_WHEN_OWNING_GTID = 1790; -exports.ER_UNKNOWN_EXPLAIN_FORMAT = 1791; -exports.ER_CANT_EXECUTE_IN_READ_ONLY_TRANSACTION = 1792; -exports.ER_TOO_LONG_TABLE_PARTITION_COMMENT = 1793; -exports.ER_SLAVE_CONFIGURATION = 1794; -exports.ER_INNODB_FT_LIMIT = 1795; -exports.ER_INNODB_NO_FT_TEMP_TABLE = 1796; -exports.ER_INNODB_FT_WRONG_DOCID_COLUMN = 1797; -exports.ER_INNODB_FT_WRONG_DOCID_INDEX = 1798; -exports.ER_INNODB_ONLINE_LOG_TOO_BIG = 1799; -exports.ER_UNKNOWN_ALTER_ALGORITHM = 1800; -exports.ER_UNKNOWN_ALTER_LOCK = 1801; -exports.ER_MTS_CHANGE_MASTER_CANT_RUN_WITH_GAPS = 1802; -exports.ER_MTS_RECOVERY_FAILURE = 1803; -exports.ER_MTS_RESET_WORKERS = 1804; -exports.ER_COL_COUNT_DOESNT_MATCH_CORRUPTED_V2 = 1805; -exports.ER_SLAVE_SILENT_RETRY_TRANSACTION = 1806; -exports.ER_DISCARD_FK_CHECKS_RUNNING = 1807; -exports.ER_TABLE_SCHEMA_MISMATCH = 1808; -exports.ER_TABLE_IN_SYSTEM_TABLESPACE = 1809; -exports.ER_IO_READ_ERROR = 1810; -exports.ER_IO_WRITE_ERROR = 1811; -exports.ER_TABLESPACE_MISSING = 1812; -exports.ER_TABLESPACE_EXISTS = 1813; -exports.ER_TABLESPACE_DISCARDED = 1814; -exports.ER_INTERNAL_ERROR = 1815; -exports.ER_INNODB_IMPORT_ERROR = 1816; -exports.ER_INNODB_INDEX_CORRUPT = 1817; -exports.ER_INVALID_YEAR_COLUMN_LENGTH = 1818; -exports.ER_NOT_VALID_PASSWORD = 1819; -exports.ER_MUST_CHANGE_PASSWORD = 1820; -exports.ER_FK_NO_INDEX_CHILD = 1821; -exports.ER_FK_NO_INDEX_PARENT = 1822; -exports.ER_FK_FAIL_ADD_SYSTEM = 1823; -exports.ER_FK_CANNOT_OPEN_PARENT = 1824; -exports.ER_FK_INCORRECT_OPTION = 1825; -exports.ER_FK_DUP_NAME = 1826; -exports.ER_PASSWORD_FORMAT = 1827; -exports.ER_FK_COLUMN_CANNOT_DROP = 1828; -exports.ER_FK_COLUMN_CANNOT_DROP_CHILD = 1829; -exports.ER_FK_COLUMN_NOT_NULL = 1830; -exports.ER_DUP_INDEX = 1831; -exports.ER_FK_COLUMN_CANNOT_CHANGE = 1832; -exports.ER_FK_COLUMN_CANNOT_CHANGE_CHILD = 1833; -exports.ER_FK_CANNOT_DELETE_PARENT = 1834; -exports.ER_MALFORMED_PACKET = 1835; -exports.ER_READ_ONLY_MODE = 1836; -exports.ER_GTID_NEXT_TYPE_UNDEFINED_GROUP = 1837; -exports.ER_VARIABLE_NOT_SETTABLE_IN_SP = 1838; -exports.ER_CANT_SET_GTID_PURGED_WHEN_GTID_MODE_IS_OFF = 1839; -exports.ER_CANT_SET_GTID_PURGED_WHEN_GTID_EXECUTED_IS_NOT_EMPTY = 1840; -exports.ER_CANT_SET_GTID_PURGED_WHEN_OWNED_GTIDS_IS_NOT_EMPTY = 1841; -exports.ER_GTID_PURGED_WAS_CHANGED = 1842; -exports.ER_GTID_EXECUTED_WAS_CHANGED = 1843; -exports.ER_BINLOG_STMT_MODE_AND_NO_REPL_TABLES = 1844; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED = 1845; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON = 1846; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_COPY = 1847; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_PARTITION = 1848; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_FK_RENAME = 1849; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_COLUMN_TYPE = 1850; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_FK_CHECK = 1851; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_IGNORE = 1852; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_NOPK = 1853; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_AUTOINC = 1854; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_HIDDEN_FTS = 1855; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_CHANGE_FTS = 1856; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_FTS = 1857; -exports.ER_SQL_SLAVE_SKIP_COUNTER_NOT_SETTABLE_IN_GTID_MODE = 1858; -exports.ER_DUP_UNKNOWN_IN_INDEX = 1859; -exports.ER_IDENT_CAUSES_TOO_LONG_PATH = 1860; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_NOT_NULL = 1861; -exports.ER_MUST_CHANGE_PASSWORD_LOGIN = 1862; -exports.ER_ROW_IN_WRONG_PARTITION = 1863; -exports.ER_MTS_EVENT_BIGGER_PENDING_JOBS_SIZE_MAX = 1864; -exports.ER_INNODB_NO_FT_USES_PARSER = 1865; -exports.ER_BINLOG_LOGICAL_CORRUPTION = 1866; -exports.ER_WARN_PURGE_LOG_IN_USE = 1867; -exports.ER_WARN_PURGE_LOG_IS_ACTIVE = 1868; -exports.ER_AUTO_INCREMENT_CONFLICT = 1869; -exports.WARN_ON_BLOCKHOLE_IN_RBR = 1870; -exports.ER_SLAVE_MI_INIT_REPOSITORY = 1871; -exports.ER_SLAVE_RLI_INIT_REPOSITORY = 1872; -exports.ER_ACCESS_DENIED_CHANGE_USER_ERROR = 1873; -exports.ER_INNODB_READ_ONLY = 1874; -exports.ER_STOP_SLAVE_SQL_THREAD_TIMEOUT = 1875; -exports.ER_STOP_SLAVE_IO_THREAD_TIMEOUT = 1876; -exports.ER_TABLE_CORRUPT = 1877; -exports.ER_TEMP_FILE_WRITE_FAILURE = 1878; -exports.ER_INNODB_FT_AUX_NOT_HEX_ID = 1879; -exports.ER_OLD_TEMPORALS_UPGRADED = 1880; -exports.ER_INNODB_FORCED_RECOVERY = 1881; -exports.ER_AES_INVALID_IV = 1882; -exports.ER_PLUGIN_CANNOT_BE_UNINSTALLED = 1883; -exports.ER_GTID_UNSAFE_BINLOG_SPLITTABLE_STATEMENT_AND_GTID_GROUP = 1884; -exports.ER_SLAVE_HAS_MORE_GTIDS_THAN_MASTER = 1885; -exports.ER_MISSING_KEY = 1886; -exports.WARN_NAMED_PIPE_ACCESS_EVERYONE = 1887; -exports.ER_FOUND_MISSING_GTIDS = 1888; -exports.ER_FILE_CORRUPT = 3000; -exports.ER_ERROR_ON_MASTER = 3001; -exports.ER_INCONSISTENT_ERROR = 3002; -exports.ER_STORAGE_ENGINE_NOT_LOADED = 3003; -exports.ER_GET_STACKED_DA_WITHOUT_ACTIVE_HANDLER = 3004; -exports.ER_WARN_LEGACY_SYNTAX_CONVERTED = 3005; -exports.ER_BINLOG_UNSAFE_FULLTEXT_PLUGIN = 3006; -exports.ER_CANNOT_DISCARD_TEMPORARY_TABLE = 3007; -exports.ER_FK_DEPTH_EXCEEDED = 3008; -exports.ER_COL_COUNT_DOESNT_MATCH_PLEASE_UPDATE_V2 = 3009; -exports.ER_WARN_TRIGGER_DOESNT_HAVE_CREATED = 3010; -exports.ER_REFERENCED_TRG_DOES_NOT_EXIST = 3011; -exports.ER_EXPLAIN_NOT_SUPPORTED = 3012; -exports.ER_INVALID_FIELD_SIZE = 3013; -exports.ER_MISSING_HA_CREATE_OPTION = 3014; -exports.ER_ENGINE_OUT_OF_MEMORY = 3015; -exports.ER_PASSWORD_EXPIRE_ANONYMOUS_USER = 3016; -exports.ER_SLAVE_SQL_THREAD_MUST_STOP = 3017; -exports.ER_NO_FT_MATERIALIZED_SUBQUERY = 3018; -exports.ER_INNODB_UNDO_LOG_FULL = 3019; -exports.ER_INVALID_ARGUMENT_FOR_LOGARITHM = 3020; -exports.ER_SLAVE_CHANNEL_IO_THREAD_MUST_STOP = 3021; -exports.ER_WARN_OPEN_TEMP_TABLES_MUST_BE_ZERO = 3022; -exports.ER_WARN_ONLY_MASTER_LOG_FILE_NO_POS = 3023; -exports.ER_QUERY_TIMEOUT = 3024; -exports.ER_NON_RO_SELECT_DISABLE_TIMER = 3025; -exports.ER_DUP_LIST_ENTRY = 3026; -exports.ER_SQL_MODE_NO_EFFECT = 3027; -exports.ER_AGGREGATE_ORDER_FOR_UNION = 3028; -exports.ER_AGGREGATE_ORDER_NON_AGG_QUERY = 3029; -exports.ER_SLAVE_WORKER_STOPPED_PREVIOUS_THD_ERROR = 3030; -exports.ER_DONT_SUPPORT_SLAVE_PRESERVE_COMMIT_ORDER = 3031; -exports.ER_SERVER_OFFLINE_MODE = 3032; -exports.ER_GIS_DIFFERENT_SRIDS = 3033; -exports.ER_GIS_UNSUPPORTED_ARGUMENT = 3034; -exports.ER_GIS_UNKNOWN_ERROR = 3035; -exports.ER_GIS_UNKNOWN_EXCEPTION = 3036; -exports.ER_GIS_INVALID_DATA = 3037; -exports.ER_BOOST_GEOMETRY_EMPTY_INPUT_EXCEPTION = 3038; -exports.ER_BOOST_GEOMETRY_CENTROID_EXCEPTION = 3039; -exports.ER_BOOST_GEOMETRY_OVERLAY_INVALID_INPUT_EXCEPTION = 3040; -exports.ER_BOOST_GEOMETRY_TURN_INFO_EXCEPTION = 3041; -exports.ER_BOOST_GEOMETRY_SELF_INTERSECTION_POINT_EXCEPTION = 3042; -exports.ER_BOOST_GEOMETRY_UNKNOWN_EXCEPTION = 3043; -exports.ER_STD_BAD_ALLOC_ERROR = 3044; -exports.ER_STD_DOMAIN_ERROR = 3045; -exports.ER_STD_LENGTH_ERROR = 3046; -exports.ER_STD_INVALID_ARGUMENT = 3047; -exports.ER_STD_OUT_OF_RANGE_ERROR = 3048; -exports.ER_STD_OVERFLOW_ERROR = 3049; -exports.ER_STD_RANGE_ERROR = 3050; -exports.ER_STD_UNDERFLOW_ERROR = 3051; -exports.ER_STD_LOGIC_ERROR = 3052; -exports.ER_STD_RUNTIME_ERROR = 3053; -exports.ER_STD_UNKNOWN_EXCEPTION = 3054; -exports.ER_GIS_DATA_WRONG_ENDIANESS = 3055; -exports.ER_CHANGE_MASTER_PASSWORD_LENGTH = 3056; -exports.ER_USER_LOCK_WRONG_NAME = 3057; -exports.ER_USER_LOCK_DEADLOCK = 3058; -exports.ER_REPLACE_INACCESSIBLE_ROWS = 3059; -exports.ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_GIS = 3060; -exports.ER_ILLEGAL_USER_VAR = 3061; -exports.ER_GTID_MODE_OFF = 3062; -exports.ER_UNSUPPORTED_BY_REPLICATION_THREAD = 3063; -exports.ER_INCORRECT_TYPE = 3064; -exports.ER_FIELD_IN_ORDER_NOT_SELECT = 3065; -exports.ER_AGGREGATE_IN_ORDER_NOT_SELECT = 3066; -exports.ER_INVALID_RPL_WILD_TABLE_FILTER_PATTERN = 3067; -exports.ER_NET_OK_PACKET_TOO_LARGE = 3068; -exports.ER_INVALID_JSON_DATA = 3069; -exports.ER_INVALID_GEOJSON_MISSING_MEMBER = 3070; -exports.ER_INVALID_GEOJSON_WRONG_TYPE = 3071; -exports.ER_INVALID_GEOJSON_UNSPECIFIED = 3072; -exports.ER_DIMENSION_UNSUPPORTED = 3073; -exports.ER_SLAVE_CHANNEL_DOES_NOT_EXIST = 3074; -exports.ER_SLAVE_MULTIPLE_CHANNELS_HOST_PORT = 3075; -exports.ER_SLAVE_CHANNEL_NAME_INVALID_OR_TOO_LONG = 3076; -exports.ER_SLAVE_NEW_CHANNEL_WRONG_REPOSITORY = 3077; -exports.ER_SLAVE_CHANNEL_DELETE = 3078; -exports.ER_SLAVE_MULTIPLE_CHANNELS_CMD = 3079; -exports.ER_SLAVE_MAX_CHANNELS_EXCEEDED = 3080; -exports.ER_SLAVE_CHANNEL_MUST_STOP = 3081; -exports.ER_SLAVE_CHANNEL_NOT_RUNNING = 3082; -exports.ER_SLAVE_CHANNEL_WAS_RUNNING = 3083; -exports.ER_SLAVE_CHANNEL_WAS_NOT_RUNNING = 3084; -exports.ER_SLAVE_CHANNEL_SQL_THREAD_MUST_STOP = 3085; -exports.ER_SLAVE_CHANNEL_SQL_SKIP_COUNTER = 3086; -exports.ER_WRONG_FIELD_WITH_GROUP_V2 = 3087; -exports.ER_MIX_OF_GROUP_FUNC_AND_FIELDS_V2 = 3088; -exports.ER_WARN_DEPRECATED_SYSVAR_UPDATE = 3089; -exports.ER_WARN_DEPRECATED_SQLMODE = 3090; -exports.ER_CANNOT_LOG_PARTIAL_DROP_DATABASE_WITH_GTID = 3091; -exports.ER_GROUP_REPLICATION_CONFIGURATION = 3092; -exports.ER_GROUP_REPLICATION_RUNNING = 3093; -exports.ER_GROUP_REPLICATION_APPLIER_INIT_ERROR = 3094; -exports.ER_GROUP_REPLICATION_STOP_APPLIER_THREAD_TIMEOUT = 3095; -exports.ER_GROUP_REPLICATION_COMMUNICATION_LAYER_SESSION_ERROR = 3096; -exports.ER_GROUP_REPLICATION_COMMUNICATION_LAYER_JOIN_ERROR = 3097; -exports.ER_BEFORE_DML_VALIDATION_ERROR = 3098; -exports.ER_PREVENTS_VARIABLE_WITHOUT_RBR = 3099; -exports.ER_RUN_HOOK_ERROR = 3100; -exports.ER_TRANSACTION_ROLLBACK_DURING_COMMIT = 3101; -exports.ER_GENERATED_COLUMN_FUNCTION_IS_NOT_ALLOWED = 3102; -exports.ER_UNSUPPORTED_ALTER_INPLACE_ON_VIRTUAL_COLUMN = 3103; -exports.ER_WRONG_FK_OPTION_FOR_GENERATED_COLUMN = 3104; -exports.ER_NON_DEFAULT_VALUE_FOR_GENERATED_COLUMN = 3105; -exports.ER_UNSUPPORTED_ACTION_ON_GENERATED_COLUMN = 3106; -exports.ER_GENERATED_COLUMN_NON_PRIOR = 3107; -exports.ER_DEPENDENT_BY_GENERATED_COLUMN = 3108; -exports.ER_GENERATED_COLUMN_REF_AUTO_INC = 3109; -exports.ER_FEATURE_NOT_AVAILABLE = 3110; -exports.ER_CANT_SET_GTID_MODE = 3111; -exports.ER_CANT_USE_AUTO_POSITION_WITH_GTID_MODE_OFF = 3112; -exports.ER_CANT_REPLICATE_ANONYMOUS_WITH_AUTO_POSITION = 3113; -exports.ER_CANT_REPLICATE_ANONYMOUS_WITH_GTID_MODE_ON = 3114; -exports.ER_CANT_REPLICATE_GTID_WITH_GTID_MODE_OFF = 3115; -exports.ER_CANT_SET_ENFORCE_GTID_CONSISTENCY_ON_WITH_ONGOING_GTID_VIOLATING_TRANSACTIONS = 3116; -exports.ER_SET_ENFORCE_GTID_CONSISTENCY_WARN_WITH_ONGOING_GTID_VIOLATING_TRANSACTIONS = 3117; -exports.ER_ACCOUNT_HAS_BEEN_LOCKED = 3118; -exports.ER_WRONG_TABLESPACE_NAME = 3119; -exports.ER_TABLESPACE_IS_NOT_EMPTY = 3120; -exports.ER_WRONG_FILE_NAME = 3121; -exports.ER_BOOST_GEOMETRY_INCONSISTENT_TURNS_EXCEPTION = 3122; -exports.ER_WARN_OPTIMIZER_HINT_SYNTAX_ERROR = 3123; -exports.ER_WARN_BAD_MAX_EXECUTION_TIME = 3124; -exports.ER_WARN_UNSUPPORTED_MAX_EXECUTION_TIME = 3125; -exports.ER_WARN_CONFLICTING_HINT = 3126; -exports.ER_WARN_UNKNOWN_QB_NAME = 3127; -exports.ER_UNRESOLVED_HINT_NAME = 3128; -exports.ER_WARN_ON_MODIFYING_GTID_EXECUTED_TABLE = 3129; -exports.ER_PLUGGABLE_PROTOCOL_COMMAND_NOT_SUPPORTED = 3130; -exports.ER_LOCKING_SERVICE_WRONG_NAME = 3131; -exports.ER_LOCKING_SERVICE_DEADLOCK = 3132; -exports.ER_LOCKING_SERVICE_TIMEOUT = 3133; -exports.ER_GIS_MAX_POINTS_IN_GEOMETRY_OVERFLOWED = 3134; -exports.ER_SQL_MODE_MERGED = 3135; -exports.ER_VTOKEN_PLUGIN_TOKEN_MISMATCH = 3136; -exports.ER_VTOKEN_PLUGIN_TOKEN_NOT_FOUND = 3137; -exports.ER_CANT_SET_VARIABLE_WHEN_OWNING_GTID = 3138; -exports.ER_SLAVE_CHANNEL_OPERATION_NOT_ALLOWED = 3139; -exports.ER_INVALID_JSON_TEXT = 3140; -exports.ER_INVALID_JSON_TEXT_IN_PARAM = 3141; -exports.ER_INVALID_JSON_BINARY_DATA = 3142; -exports.ER_INVALID_JSON_PATH = 3143; -exports.ER_INVALID_JSON_CHARSET = 3144; -exports.ER_INVALID_JSON_CHARSET_IN_FUNCTION = 3145; -exports.ER_INVALID_TYPE_FOR_JSON = 3146; -exports.ER_INVALID_CAST_TO_JSON = 3147; -exports.ER_INVALID_JSON_PATH_CHARSET = 3148; -exports.ER_INVALID_JSON_PATH_WILDCARD = 3149; -exports.ER_JSON_VALUE_TOO_BIG = 3150; -exports.ER_JSON_KEY_TOO_BIG = 3151; -exports.ER_JSON_USED_AS_KEY = 3152; -exports.ER_JSON_VACUOUS_PATH = 3153; -exports.ER_JSON_BAD_ONE_OR_ALL_ARG = 3154; -exports.ER_NUMERIC_JSON_VALUE_OUT_OF_RANGE = 3155; -exports.ER_INVALID_JSON_VALUE_FOR_CAST = 3156; -exports.ER_JSON_DOCUMENT_TOO_DEEP = 3157; -exports.ER_JSON_DOCUMENT_NULL_KEY = 3158; -exports.ER_SECURE_TRANSPORT_REQUIRED = 3159; -exports.ER_NO_SECURE_TRANSPORTS_CONFIGURED = 3160; -exports.ER_DISABLED_STORAGE_ENGINE = 3161; -exports.ER_USER_DOES_NOT_EXIST = 3162; -exports.ER_USER_ALREADY_EXISTS = 3163; -exports.ER_AUDIT_API_ABORT = 3164; -exports.ER_INVALID_JSON_PATH_ARRAY_CELL = 3165; -exports.ER_BUFPOOL_RESIZE_INPROGRESS = 3166; -exports.ER_FEATURE_DISABLED_SEE_DOC = 3167; -exports.ER_SERVER_ISNT_AVAILABLE = 3168; -exports.ER_SESSION_WAS_KILLED = 3169; -exports.ER_CAPACITY_EXCEEDED = 3170; -exports.ER_CAPACITY_EXCEEDED_IN_RANGE_OPTIMIZER = 3171; -exports.ER_TABLE_NEEDS_UPG_PART = 3172; -exports.ER_CANT_WAIT_FOR_EXECUTED_GTID_SET_WHILE_OWNING_A_GTID = 3173; -exports.ER_CANNOT_ADD_FOREIGN_BASE_COL_VIRTUAL = 3174; -exports.ER_CANNOT_CREATE_VIRTUAL_INDEX_CONSTRAINT = 3175; -exports.ER_ERROR_ON_MODIFYING_GTID_EXECUTED_TABLE = 3176; -exports.ER_LOCK_REFUSED_BY_ENGINE = 3177; -exports.ER_UNSUPPORTED_ALTER_ONLINE_ON_VIRTUAL_COLUMN = 3178; -exports.ER_MASTER_KEY_ROTATION_NOT_SUPPORTED_BY_SE = 3179; -exports.ER_MASTER_KEY_ROTATION_ERROR_BY_SE = 3180; -exports.ER_MASTER_KEY_ROTATION_BINLOG_FAILED = 3181; -exports.ER_MASTER_KEY_ROTATION_SE_UNAVAILABLE = 3182; -exports.ER_TABLESPACE_CANNOT_ENCRYPT = 3183; -exports.ER_INVALID_ENCRYPTION_OPTION = 3184; -exports.ER_CANNOT_FIND_KEY_IN_KEYRING = 3185; -exports.ER_CAPACITY_EXCEEDED_IN_PARSER = 3186; -exports.ER_UNSUPPORTED_ALTER_ENCRYPTION_INPLACE = 3187; -exports.ER_KEYRING_UDF_KEYRING_SERVICE_ERROR = 3188; -exports.ER_USER_COLUMN_OLD_LENGTH = 3189; -exports.ER_CANT_RESET_MASTER = 3190; -exports.ER_GROUP_REPLICATION_MAX_GROUP_SIZE = 3191; -exports.ER_CANNOT_ADD_FOREIGN_BASE_COL_STORED = 3192; -exports.ER_TABLE_REFERENCED = 3193; -exports.ER_PARTITION_ENGINE_DEPRECATED_FOR_TABLE = 3194; -exports.ER_WARN_USING_GEOMFROMWKB_TO_SET_SRID_ZERO = 3195; -exports.ER_WARN_USING_GEOMFROMWKB_TO_SET_SRID = 3196; -exports.ER_XA_RETRY = 3197; -exports.ER_KEYRING_AWS_UDF_AWS_KMS_ERROR = 3198; -exports.ER_BINLOG_UNSAFE_XA = 3199; -exports.ER_UDF_ERROR = 3200; -exports.ER_KEYRING_MIGRATION_FAILURE = 3201; -exports.ER_KEYRING_ACCESS_DENIED_ERROR = 3202; -exports.ER_KEYRING_MIGRATION_STATUS = 3203; -exports.ER_PLUGIN_FAILED_TO_OPEN_TABLES = 3204; -exports.ER_PLUGIN_FAILED_TO_OPEN_TABLE = 3205; -exports.ER_AUDIT_LOG_NO_KEYRING_PLUGIN_INSTALLED = 3206; -exports.ER_AUDIT_LOG_ENCRYPTION_PASSWORD_HAS_NOT_BEEN_SET = 3207; -exports.ER_AUDIT_LOG_COULD_NOT_CREATE_AES_KEY = 3208; -exports.ER_AUDIT_LOG_ENCRYPTION_PASSWORD_CANNOT_BE_FETCHED = 3209; -exports.ER_AUDIT_LOG_JSON_FILTERING_NOT_ENABLED = 3210; -exports.ER_AUDIT_LOG_UDF_INSUFFICIENT_PRIVILEGE = 3211; -exports.ER_AUDIT_LOG_SUPER_PRIVILEGE_REQUIRED = 3212; -exports.ER_COULD_NOT_REINITIALIZE_AUDIT_LOG_FILTERS = 3213; -exports.ER_AUDIT_LOG_UDF_INVALID_ARGUMENT_TYPE = 3214; -exports.ER_AUDIT_LOG_UDF_INVALID_ARGUMENT_COUNT = 3215; -exports.ER_AUDIT_LOG_HAS_NOT_BEEN_INSTALLED = 3216; -exports.ER_AUDIT_LOG_UDF_READ_INVALID_MAX_ARRAY_LENGTH_ARG_TYPE = 3217; -exports.ER_AUDIT_LOG_UDF_READ_INVALID_MAX_ARRAY_LENGTH_ARG_VALUE = 3218; -exports.ER_AUDIT_LOG_JSON_FILTER_PARSING_ERROR = 3219; -exports.ER_AUDIT_LOG_JSON_FILTER_NAME_CANNOT_BE_EMPTY = 3220; -exports.ER_AUDIT_LOG_JSON_USER_NAME_CANNOT_BE_EMPTY = 3221; -exports.ER_AUDIT_LOG_JSON_FILTER_DOES_NOT_EXISTS = 3222; -exports.ER_AUDIT_LOG_USER_FIRST_CHARACTER_MUST_BE_ALPHANUMERIC = 3223; -exports.ER_AUDIT_LOG_USER_NAME_INVALID_CHARACTER = 3224; -exports.ER_AUDIT_LOG_HOST_NAME_INVALID_CHARACTER = 3225; -exports.WARN_DEPRECATED_MAXDB_SQL_MODE_FOR_TIMESTAMP = 3226; -exports.ER_XA_REPLICATION_FILTERS = 3227; -exports.ER_CANT_OPEN_ERROR_LOG = 3228; -exports.ER_GROUPING_ON_TIMESTAMP_IN_DST = 3229; -exports.ER_CANT_START_SERVER_NAMED_PIPE = 3230; - -// Lookup-by-number table -exports[1] = 'EE_CANTCREATEFILE'; -exports[2] = 'EE_READ'; -exports[3] = 'EE_WRITE'; -exports[4] = 'EE_BADCLOSE'; -exports[5] = 'EE_OUTOFMEMORY'; -exports[6] = 'EE_DELETE'; -exports[7] = 'EE_LINK'; -exports[9] = 'EE_EOFERR'; -exports[10] = 'EE_CANTLOCK'; -exports[11] = 'EE_CANTUNLOCK'; -exports[12] = 'EE_DIR'; -exports[13] = 'EE_STAT'; -exports[14] = 'EE_CANT_CHSIZE'; -exports[15] = 'EE_CANT_OPEN_STREAM'; -exports[16] = 'EE_GETWD'; -exports[17] = 'EE_SETWD'; -exports[18] = 'EE_LINK_WARNING'; -exports[19] = 'EE_OPEN_WARNING'; -exports[20] = 'EE_DISK_FULL'; -exports[21] = 'EE_CANT_MKDIR'; -exports[22] = 'EE_UNKNOWN_CHARSET'; -exports[23] = 'EE_OUT_OF_FILERESOURCES'; -exports[24] = 'EE_CANT_READLINK'; -exports[25] = 'EE_CANT_SYMLINK'; -exports[26] = 'EE_REALPATH'; -exports[27] = 'EE_SYNC'; -exports[28] = 'EE_UNKNOWN_COLLATION'; -exports[29] = 'EE_FILENOTFOUND'; -exports[30] = 'EE_FILE_NOT_CLOSED'; -exports[31] = 'EE_CHANGE_OWNERSHIP'; -exports[32] = 'EE_CHANGE_PERMISSIONS'; -exports[33] = 'EE_CANT_SEEK'; -exports[34] = 'EE_CAPACITY_EXCEEDED'; -exports[120] = 'HA_ERR_KEY_NOT_FOUND'; -exports[121] = 'HA_ERR_FOUND_DUPP_KEY'; -exports[122] = 'HA_ERR_INTERNAL_ERROR'; -exports[123] = 'HA_ERR_RECORD_CHANGED'; -exports[124] = 'HA_ERR_WRONG_INDEX'; -exports[126] = 'HA_ERR_CRASHED'; -exports[127] = 'HA_ERR_WRONG_IN_RECORD'; -exports[128] = 'HA_ERR_OUT_OF_MEM'; -exports[130] = 'HA_ERR_NOT_A_TABLE'; -exports[131] = 'HA_ERR_WRONG_COMMAND'; -exports[132] = 'HA_ERR_OLD_FILE'; -exports[133] = 'HA_ERR_NO_ACTIVE_RECORD'; -exports[134] = 'HA_ERR_RECORD_DELETED'; -exports[135] = 'HA_ERR_RECORD_FILE_FULL'; -exports[136] = 'HA_ERR_INDEX_FILE_FULL'; -exports[137] = 'HA_ERR_END_OF_FILE'; -exports[138] = 'HA_ERR_UNSUPPORTED'; -exports[139] = 'HA_ERR_TOO_BIG_ROW'; -exports[140] = 'HA_WRONG_CREATE_OPTION'; -exports[141] = 'HA_ERR_FOUND_DUPP_UNIQUE'; -exports[142] = 'HA_ERR_UNKNOWN_CHARSET'; -exports[143] = 'HA_ERR_WRONG_MRG_TABLE_DEF'; -exports[144] = 'HA_ERR_CRASHED_ON_REPAIR'; -exports[145] = 'HA_ERR_CRASHED_ON_USAGE'; -exports[146] = 'HA_ERR_LOCK_WAIT_TIMEOUT'; -exports[147] = 'HA_ERR_LOCK_TABLE_FULL'; -exports[148] = 'HA_ERR_READ_ONLY_TRANSACTION'; -exports[149] = 'HA_ERR_LOCK_DEADLOCK'; -exports[150] = 'HA_ERR_CANNOT_ADD_FOREIGN'; -exports[151] = 'HA_ERR_NO_REFERENCED_ROW'; -exports[152] = 'HA_ERR_ROW_IS_REFERENCED'; -exports[153] = 'HA_ERR_NO_SAVEPOINT'; -exports[154] = 'HA_ERR_NON_UNIQUE_BLOCK_SIZE'; -exports[155] = 'HA_ERR_NO_SUCH_TABLE'; -exports[156] = 'HA_ERR_TABLE_EXIST'; -exports[157] = 'HA_ERR_NO_CONNECTION'; -exports[158] = 'HA_ERR_NULL_IN_SPATIAL'; -exports[159] = 'HA_ERR_TABLE_DEF_CHANGED'; -exports[160] = 'HA_ERR_NO_PARTITION_FOUND'; -exports[161] = 'HA_ERR_RBR_LOGGING_FAILED'; -exports[162] = 'HA_ERR_DROP_INDEX_FK'; -exports[163] = 'HA_ERR_FOREIGN_DUPLICATE_KEY'; -exports[164] = 'HA_ERR_TABLE_NEEDS_UPGRADE'; -exports[165] = 'HA_ERR_TABLE_READONLY'; -exports[166] = 'HA_ERR_AUTOINC_READ_FAILED'; -exports[167] = 'HA_ERR_AUTOINC_ERANGE'; -exports[168] = 'HA_ERR_GENERIC'; -exports[169] = 'HA_ERR_RECORD_IS_THE_SAME'; -exports[170] = 'HA_ERR_LOGGING_IMPOSSIBLE'; -exports[171] = 'HA_ERR_CORRUPT_EVENT'; -exports[172] = 'HA_ERR_NEW_FILE'; -exports[173] = 'HA_ERR_ROWS_EVENT_APPLY'; -exports[174] = 'HA_ERR_INITIALIZATION'; -exports[175] = 'HA_ERR_FILE_TOO_SHORT'; -exports[176] = 'HA_ERR_WRONG_CRC'; -exports[177] = 'HA_ERR_TOO_MANY_CONCURRENT_TRXS'; -exports[178] = 'HA_ERR_NOT_IN_LOCK_PARTITIONS'; -exports[179] = 'HA_ERR_INDEX_COL_TOO_LONG'; -exports[180] = 'HA_ERR_INDEX_CORRUPT'; -exports[181] = 'HA_ERR_UNDO_REC_TOO_BIG'; -exports[182] = 'HA_FTS_INVALID_DOCID'; -exports[183] = 'HA_ERR_TABLE_IN_FK_CHECK'; -exports[184] = 'HA_ERR_TABLESPACE_EXISTS'; -exports[185] = 'HA_ERR_TOO_MANY_FIELDS'; -exports[186] = 'HA_ERR_ROW_IN_WRONG_PARTITION'; -exports[187] = 'HA_ERR_INNODB_READ_ONLY'; -exports[188] = 'HA_ERR_FTS_EXCEED_RESULT_CACHE_LIMIT'; -exports[189] = 'HA_ERR_TEMP_FILE_WRITE_FAILURE'; -exports[190] = 'HA_ERR_INNODB_FORCED_RECOVERY'; -exports[191] = 'HA_ERR_FTS_TOO_MANY_WORDS_IN_PHRASE'; -exports[192] = 'HA_ERR_FK_DEPTH_EXCEEDED'; -exports[193] = 'HA_MISSING_CREATE_OPTION'; -exports[194] = 'HA_ERR_SE_OUT_OF_MEMORY'; -exports[195] = 'HA_ERR_TABLE_CORRUPT'; -exports[196] = 'HA_ERR_QUERY_INTERRUPTED'; -exports[197] = 'HA_ERR_TABLESPACE_MISSING'; -exports[198] = 'HA_ERR_TABLESPACE_IS_NOT_EMPTY'; -exports[199] = 'HA_ERR_WRONG_FILE_NAME'; -exports[200] = 'HA_ERR_NOT_ALLOWED_COMMAND'; -exports[201] = 'HA_ERR_COMPUTE_FAILED'; -exports[1000] = 'ER_HASHCHK'; -exports[1001] = 'ER_NISAMCHK'; -exports[1002] = 'ER_NO'; -exports[1003] = 'ER_YES'; -exports[1004] = 'ER_CANT_CREATE_FILE'; -exports[1005] = 'ER_CANT_CREATE_TABLE'; -exports[1006] = 'ER_CANT_CREATE_DB'; -exports[1007] = 'ER_DB_CREATE_EXISTS'; -exports[1008] = 'ER_DB_DROP_EXISTS'; -exports[1009] = 'ER_DB_DROP_DELETE'; -exports[1010] = 'ER_DB_DROP_RMDIR'; -exports[1011] = 'ER_CANT_DELETE_FILE'; -exports[1012] = 'ER_CANT_FIND_SYSTEM_REC'; -exports[1013] = 'ER_CANT_GET_STAT'; -exports[1014] = 'ER_CANT_GET_WD'; -exports[1015] = 'ER_CANT_LOCK'; -exports[1016] = 'ER_CANT_OPEN_FILE'; -exports[1017] = 'ER_FILE_NOT_FOUND'; -exports[1018] = 'ER_CANT_READ_DIR'; -exports[1019] = 'ER_CANT_SET_WD'; -exports[1020] = 'ER_CHECKREAD'; -exports[1021] = 'ER_DISK_FULL'; -exports[1022] = 'ER_DUP_KEY'; -exports[1023] = 'ER_ERROR_ON_CLOSE'; -exports[1024] = 'ER_ERROR_ON_READ'; -exports[1025] = 'ER_ERROR_ON_RENAME'; -exports[1026] = 'ER_ERROR_ON_WRITE'; -exports[1027] = 'ER_FILE_USED'; -exports[1028] = 'ER_FILSORT_ABORT'; -exports[1029] = 'ER_FORM_NOT_FOUND'; -exports[1030] = 'ER_GET_ERRNO'; -exports[1031] = 'ER_ILLEGAL_HA'; -exports[1032] = 'ER_KEY_NOT_FOUND'; -exports[1033] = 'ER_NOT_FORM_FILE'; -exports[1034] = 'ER_NOT_KEYFILE'; -exports[1035] = 'ER_OLD_KEYFILE'; -exports[1036] = 'ER_OPEN_AS_READONLY'; -exports[1037] = 'ER_OUTOFMEMORY'; -exports[1038] = 'ER_OUT_OF_SORTMEMORY'; -exports[1039] = 'ER_UNEXPECTED_EOF'; -exports[1040] = 'ER_CON_COUNT_ERROR'; -exports[1041] = 'ER_OUT_OF_RESOURCES'; -exports[1042] = 'ER_BAD_HOST_ERROR'; -exports[1043] = 'ER_HANDSHAKE_ERROR'; -exports[1044] = 'ER_DBACCESS_DENIED_ERROR'; -exports[1045] = 'ER_ACCESS_DENIED_ERROR'; -exports[1046] = 'ER_NO_DB_ERROR'; -exports[1047] = 'ER_UNKNOWN_COM_ERROR'; -exports[1048] = 'ER_BAD_NULL_ERROR'; -exports[1049] = 'ER_BAD_DB_ERROR'; -exports[1050] = 'ER_TABLE_EXISTS_ERROR'; -exports[1051] = 'ER_BAD_TABLE_ERROR'; -exports[1052] = 'ER_NON_UNIQ_ERROR'; -exports[1053] = 'ER_SERVER_SHUTDOWN'; -exports[1054] = 'ER_BAD_FIELD_ERROR'; -exports[1055] = 'ER_WRONG_FIELD_WITH_GROUP'; -exports[1056] = 'ER_WRONG_GROUP_FIELD'; -exports[1057] = 'ER_WRONG_SUM_SELECT'; -exports[1058] = 'ER_WRONG_VALUE_COUNT'; -exports[1059] = 'ER_TOO_LONG_IDENT'; -exports[1060] = 'ER_DUP_FIELDNAME'; -exports[1061] = 'ER_DUP_KEYNAME'; -exports[1062] = 'ER_DUP_ENTRY'; -exports[1063] = 'ER_WRONG_FIELD_SPEC'; -exports[1064] = 'ER_PARSE_ERROR'; -exports[1065] = 'ER_EMPTY_QUERY'; -exports[1066] = 'ER_NONUNIQ_TABLE'; -exports[1067] = 'ER_INVALID_DEFAULT'; -exports[1068] = 'ER_MULTIPLE_PRI_KEY'; -exports[1069] = 'ER_TOO_MANY_KEYS'; -exports[1070] = 'ER_TOO_MANY_KEY_PARTS'; -exports[1071] = 'ER_TOO_LONG_KEY'; -exports[1072] = 'ER_KEY_COLUMN_DOES_NOT_EXITS'; -exports[1073] = 'ER_BLOB_USED_AS_KEY'; -exports[1074] = 'ER_TOO_BIG_FIELDLENGTH'; -exports[1075] = 'ER_WRONG_AUTO_KEY'; -exports[1076] = 'ER_READY'; -exports[1077] = 'ER_NORMAL_SHUTDOWN'; -exports[1078] = 'ER_GOT_SIGNAL'; -exports[1079] = 'ER_SHUTDOWN_COMPLETE'; -exports[1080] = 'ER_FORCING_CLOSE'; -exports[1081] = 'ER_IPSOCK_ERROR'; -exports[1082] = 'ER_NO_SUCH_INDEX'; -exports[1083] = 'ER_WRONG_FIELD_TERMINATORS'; -exports[1084] = 'ER_BLOBS_AND_NO_TERMINATED'; -exports[1085] = 'ER_TEXTFILE_NOT_READABLE'; -exports[1086] = 'ER_FILE_EXISTS_ERROR'; -exports[1087] = 'ER_LOAD_INFO'; -exports[1088] = 'ER_ALTER_INFO'; -exports[1089] = 'ER_WRONG_SUB_KEY'; -exports[1090] = 'ER_CANT_REMOVE_ALL_FIELDS'; -exports[1091] = 'ER_CANT_DROP_FIELD_OR_KEY'; -exports[1092] = 'ER_INSERT_INFO'; -exports[1093] = 'ER_UPDATE_TABLE_USED'; -exports[1094] = 'ER_NO_SUCH_THREAD'; -exports[1095] = 'ER_KILL_DENIED_ERROR'; -exports[1096] = 'ER_NO_TABLES_USED'; -exports[1097] = 'ER_TOO_BIG_SET'; -exports[1098] = 'ER_NO_UNIQUE_LOGFILE'; -exports[1099] = 'ER_TABLE_NOT_LOCKED_FOR_WRITE'; -exports[1100] = 'ER_TABLE_NOT_LOCKED'; -exports[1101] = 'ER_BLOB_CANT_HAVE_DEFAULT'; -exports[1102] = 'ER_WRONG_DB_NAME'; -exports[1103] = 'ER_WRONG_TABLE_NAME'; -exports[1104] = 'ER_TOO_BIG_SELECT'; -exports[1105] = 'ER_UNKNOWN_ERROR'; -exports[1106] = 'ER_UNKNOWN_PROCEDURE'; -exports[1107] = 'ER_WRONG_PARAMCOUNT_TO_PROCEDURE'; -exports[1108] = 'ER_WRONG_PARAMETERS_TO_PROCEDURE'; -exports[1109] = 'ER_UNKNOWN_TABLE'; -exports[1110] = 'ER_FIELD_SPECIFIED_TWICE'; -exports[1111] = 'ER_INVALID_GROUP_FUNC_USE'; -exports[1112] = 'ER_UNSUPPORTED_EXTENSION'; -exports[1113] = 'ER_TABLE_MUST_HAVE_COLUMNS'; -exports[1114] = 'ER_RECORD_FILE_FULL'; -exports[1115] = 'ER_UNKNOWN_CHARACTER_SET'; -exports[1116] = 'ER_TOO_MANY_TABLES'; -exports[1117] = 'ER_TOO_MANY_FIELDS'; -exports[1118] = 'ER_TOO_BIG_ROWSIZE'; -exports[1119] = 'ER_STACK_OVERRUN'; -exports[1120] = 'ER_WRONG_OUTER_JOIN'; -exports[1121] = 'ER_NULL_COLUMN_IN_INDEX'; -exports[1122] = 'ER_CANT_FIND_UDF'; -exports[1123] = 'ER_CANT_INITIALIZE_UDF'; -exports[1124] = 'ER_UDF_NO_PATHS'; -exports[1125] = 'ER_UDF_EXISTS'; -exports[1126] = 'ER_CANT_OPEN_LIBRARY'; -exports[1127] = 'ER_CANT_FIND_DL_ENTRY'; -exports[1128] = 'ER_FUNCTION_NOT_DEFINED'; -exports[1129] = 'ER_HOST_IS_BLOCKED'; -exports[1130] = 'ER_HOST_NOT_PRIVILEGED'; -exports[1131] = 'ER_PASSWORD_ANONYMOUS_USER'; -exports[1132] = 'ER_PASSWORD_NOT_ALLOWED'; -exports[1133] = 'ER_PASSWORD_NO_MATCH'; -exports[1134] = 'ER_UPDATE_INFO'; -exports[1135] = 'ER_CANT_CREATE_THREAD'; -exports[1136] = 'ER_WRONG_VALUE_COUNT_ON_ROW'; -exports[1137] = 'ER_CANT_REOPEN_TABLE'; -exports[1138] = 'ER_INVALID_USE_OF_NULL'; -exports[1139] = 'ER_REGEXP_ERROR'; -exports[1140] = 'ER_MIX_OF_GROUP_FUNC_AND_FIELDS'; -exports[1141] = 'ER_NONEXISTING_GRANT'; -exports[1142] = 'ER_TABLEACCESS_DENIED_ERROR'; -exports[1143] = 'ER_COLUMNACCESS_DENIED_ERROR'; -exports[1144] = 'ER_ILLEGAL_GRANT_FOR_TABLE'; -exports[1145] = 'ER_GRANT_WRONG_HOST_OR_USER'; -exports[1146] = 'ER_NO_SUCH_TABLE'; -exports[1147] = 'ER_NONEXISTING_TABLE_GRANT'; -exports[1148] = 'ER_NOT_ALLOWED_COMMAND'; -exports[1149] = 'ER_SYNTAX_ERROR'; -exports[1150] = 'ER_DELAYED_CANT_CHANGE_LOCK'; -exports[1151] = 'ER_TOO_MANY_DELAYED_THREADS'; -exports[1152] = 'ER_ABORTING_CONNECTION'; -exports[1153] = 'ER_NET_PACKET_TOO_LARGE'; -exports[1154] = 'ER_NET_READ_ERROR_FROM_PIPE'; -exports[1155] = 'ER_NET_FCNTL_ERROR'; -exports[1156] = 'ER_NET_PACKETS_OUT_OF_ORDER'; -exports[1157] = 'ER_NET_UNCOMPRESS_ERROR'; -exports[1158] = 'ER_NET_READ_ERROR'; -exports[1159] = 'ER_NET_READ_INTERRUPTED'; -exports[1160] = 'ER_NET_ERROR_ON_WRITE'; -exports[1161] = 'ER_NET_WRITE_INTERRUPTED'; -exports[1162] = 'ER_TOO_LONG_STRING'; -exports[1163] = 'ER_TABLE_CANT_HANDLE_BLOB'; -exports[1164] = 'ER_TABLE_CANT_HANDLE_AUTO_INCREMENT'; -exports[1165] = 'ER_DELAYED_INSERT_TABLE_LOCKED'; -exports[1166] = 'ER_WRONG_COLUMN_NAME'; -exports[1167] = 'ER_WRONG_KEY_COLUMN'; -exports[1168] = 'ER_WRONG_MRG_TABLE'; -exports[1169] = 'ER_DUP_UNIQUE'; -exports[1170] = 'ER_BLOB_KEY_WITHOUT_LENGTH'; -exports[1171] = 'ER_PRIMARY_CANT_HAVE_NULL'; -exports[1172] = 'ER_TOO_MANY_ROWS'; -exports[1173] = 'ER_REQUIRES_PRIMARY_KEY'; -exports[1174] = 'ER_NO_RAID_COMPILED'; -exports[1175] = 'ER_UPDATE_WITHOUT_KEY_IN_SAFE_MODE'; -exports[1176] = 'ER_KEY_DOES_NOT_EXITS'; -exports[1177] = 'ER_CHECK_NO_SUCH_TABLE'; -exports[1178] = 'ER_CHECK_NOT_IMPLEMENTED'; -exports[1179] = 'ER_CANT_DO_THIS_DURING_AN_TRANSACTION'; -exports[1180] = 'ER_ERROR_DURING_COMMIT'; -exports[1181] = 'ER_ERROR_DURING_ROLLBACK'; -exports[1182] = 'ER_ERROR_DURING_FLUSH_LOGS'; -exports[1183] = 'ER_ERROR_DURING_CHECKPOINT'; -exports[1184] = 'ER_NEW_ABORTING_CONNECTION'; -exports[1185] = 'ER_DUMP_NOT_IMPLEMENTED'; -exports[1186] = 'ER_FLUSH_MASTER_BINLOG_CLOSED'; -exports[1187] = 'ER_INDEX_REBUILD'; -exports[1188] = 'ER_MASTER'; -exports[1189] = 'ER_MASTER_NET_READ'; -exports[1190] = 'ER_MASTER_NET_WRITE'; -exports[1191] = 'ER_FT_MATCHING_KEY_NOT_FOUND'; -exports[1192] = 'ER_LOCK_OR_ACTIVE_TRANSACTION'; -exports[1193] = 'ER_UNKNOWN_SYSTEM_VARIABLE'; -exports[1194] = 'ER_CRASHED_ON_USAGE'; -exports[1195] = 'ER_CRASHED_ON_REPAIR'; -exports[1196] = 'ER_WARNING_NOT_COMPLETE_ROLLBACK'; -exports[1197] = 'ER_TRANS_CACHE_FULL'; -exports[1198] = 'ER_SLAVE_MUST_STOP'; -exports[1199] = 'ER_SLAVE_NOT_RUNNING'; -exports[1200] = 'ER_BAD_SLAVE'; -exports[1201] = 'ER_MASTER_INFO'; -exports[1202] = 'ER_SLAVE_THREAD'; -exports[1203] = 'ER_TOO_MANY_USER_CONNECTIONS'; -exports[1204] = 'ER_SET_CONSTANTS_ONLY'; -exports[1205] = 'ER_LOCK_WAIT_TIMEOUT'; -exports[1206] = 'ER_LOCK_TABLE_FULL'; -exports[1207] = 'ER_READ_ONLY_TRANSACTION'; -exports[1208] = 'ER_DROP_DB_WITH_READ_LOCK'; -exports[1209] = 'ER_CREATE_DB_WITH_READ_LOCK'; -exports[1210] = 'ER_WRONG_ARGUMENTS'; -exports[1211] = 'ER_NO_PERMISSION_TO_CREATE_USER'; -exports[1212] = 'ER_UNION_TABLES_IN_DIFFERENT_DIR'; -exports[1213] = 'ER_LOCK_DEADLOCK'; -exports[1214] = 'ER_TABLE_CANT_HANDLE_FT'; -exports[1215] = 'ER_CANNOT_ADD_FOREIGN'; -exports[1216] = 'ER_NO_REFERENCED_ROW'; -exports[1217] = 'ER_ROW_IS_REFERENCED'; -exports[1218] = 'ER_CONNECT_TO_MASTER'; -exports[1219] = 'ER_QUERY_ON_MASTER'; -exports[1220] = 'ER_ERROR_WHEN_EXECUTING_COMMAND'; -exports[1221] = 'ER_WRONG_USAGE'; -exports[1222] = 'ER_WRONG_NUMBER_OF_COLUMNS_IN_SELECT'; -exports[1223] = 'ER_CANT_UPDATE_WITH_READLOCK'; -exports[1224] = 'ER_MIXING_NOT_ALLOWED'; -exports[1225] = 'ER_DUP_ARGUMENT'; -exports[1226] = 'ER_USER_LIMIT_REACHED'; -exports[1227] = 'ER_SPECIFIC_ACCESS_DENIED_ERROR'; -exports[1228] = 'ER_LOCAL_VARIABLE'; -exports[1229] = 'ER_GLOBAL_VARIABLE'; -exports[1230] = 'ER_NO_DEFAULT'; -exports[1231] = 'ER_WRONG_VALUE_FOR_VAR'; -exports[1232] = 'ER_WRONG_TYPE_FOR_VAR'; -exports[1233] = 'ER_VAR_CANT_BE_READ'; -exports[1234] = 'ER_CANT_USE_OPTION_HERE'; -exports[1235] = 'ER_NOT_SUPPORTED_YET'; -exports[1236] = 'ER_MASTER_FATAL_ERROR_READING_BINLOG'; -exports[1237] = 'ER_SLAVE_IGNORED_TABLE'; -exports[1238] = 'ER_INCORRECT_GLOBAL_LOCAL_VAR'; -exports[1239] = 'ER_WRONG_FK_DEF'; -exports[1240] = 'ER_KEY_REF_DO_NOT_MATCH_TABLE_REF'; -exports[1241] = 'ER_OPERAND_COLUMNS'; -exports[1242] = 'ER_SUBQUERY_NO_1_ROW'; -exports[1243] = 'ER_UNKNOWN_STMT_HANDLER'; -exports[1244] = 'ER_CORRUPT_HELP_DB'; -exports[1245] = 'ER_CYCLIC_REFERENCE'; -exports[1246] = 'ER_AUTO_CONVERT'; -exports[1247] = 'ER_ILLEGAL_REFERENCE'; -exports[1248] = 'ER_DERIVED_MUST_HAVE_ALIAS'; -exports[1249] = 'ER_SELECT_REDUCED'; -exports[1250] = 'ER_TABLENAME_NOT_ALLOWED_HERE'; -exports[1251] = 'ER_NOT_SUPPORTED_AUTH_MODE'; -exports[1252] = 'ER_SPATIAL_CANT_HAVE_NULL'; -exports[1253] = 'ER_COLLATION_CHARSET_MISMATCH'; -exports[1254] = 'ER_SLAVE_WAS_RUNNING'; -exports[1255] = 'ER_SLAVE_WAS_NOT_RUNNING'; -exports[1256] = 'ER_TOO_BIG_FOR_UNCOMPRESS'; -exports[1257] = 'ER_ZLIB_Z_MEM_ERROR'; -exports[1258] = 'ER_ZLIB_Z_BUF_ERROR'; -exports[1259] = 'ER_ZLIB_Z_DATA_ERROR'; -exports[1260] = 'ER_CUT_VALUE_GROUP_CONCAT'; -exports[1261] = 'ER_WARN_TOO_FEW_RECORDS'; -exports[1262] = 'ER_WARN_TOO_MANY_RECORDS'; -exports[1263] = 'ER_WARN_NULL_TO_NOTNULL'; -exports[1264] = 'ER_WARN_DATA_OUT_OF_RANGE'; -exports[1265] = 'WARN_DATA_TRUNCATED'; -exports[1266] = 'ER_WARN_USING_OTHER_HANDLER'; -exports[1267] = 'ER_CANT_AGGREGATE_2COLLATIONS'; -exports[1268] = 'ER_DROP_USER'; -exports[1269] = 'ER_REVOKE_GRANTS'; -exports[1270] = 'ER_CANT_AGGREGATE_3COLLATIONS'; -exports[1271] = 'ER_CANT_AGGREGATE_NCOLLATIONS'; -exports[1272] = 'ER_VARIABLE_IS_NOT_STRUCT'; -exports[1273] = 'ER_UNKNOWN_COLLATION'; -exports[1274] = 'ER_SLAVE_IGNORED_SSL_PARAMS'; -exports[1275] = 'ER_SERVER_IS_IN_SECURE_AUTH_MODE'; -exports[1276] = 'ER_WARN_FIELD_RESOLVED'; -exports[1277] = 'ER_BAD_SLAVE_UNTIL_COND'; -exports[1278] = 'ER_MISSING_SKIP_SLAVE'; -exports[1279] = 'ER_UNTIL_COND_IGNORED'; -exports[1280] = 'ER_WRONG_NAME_FOR_INDEX'; -exports[1281] = 'ER_WRONG_NAME_FOR_CATALOG'; -exports[1282] = 'ER_WARN_QC_RESIZE'; -exports[1283] = 'ER_BAD_FT_COLUMN'; -exports[1284] = 'ER_UNKNOWN_KEY_CACHE'; -exports[1285] = 'ER_WARN_HOSTNAME_WONT_WORK'; -exports[1286] = 'ER_UNKNOWN_STORAGE_ENGINE'; -exports[1287] = 'ER_WARN_DEPRECATED_SYNTAX'; -exports[1288] = 'ER_NON_UPDATABLE_TABLE'; -exports[1289] = 'ER_FEATURE_DISABLED'; -exports[1290] = 'ER_OPTION_PREVENTS_STATEMENT'; -exports[1291] = 'ER_DUPLICATED_VALUE_IN_TYPE'; -exports[1292] = 'ER_TRUNCATED_WRONG_VALUE'; -exports[1293] = 'ER_TOO_MUCH_AUTO_TIMESTAMP_COLS'; -exports[1294] = 'ER_INVALID_ON_UPDATE'; -exports[1295] = 'ER_UNSUPPORTED_PS'; -exports[1296] = 'ER_GET_ERRMSG'; -exports[1297] = 'ER_GET_TEMPORARY_ERRMSG'; -exports[1298] = 'ER_UNKNOWN_TIME_ZONE'; -exports[1299] = 'ER_WARN_INVALID_TIMESTAMP'; -exports[1300] = 'ER_INVALID_CHARACTER_STRING'; -exports[1301] = 'ER_WARN_ALLOWED_PACKET_OVERFLOWED'; -exports[1302] = 'ER_CONFLICTING_DECLARATIONS'; -exports[1303] = 'ER_SP_NO_RECURSIVE_CREATE'; -exports[1304] = 'ER_SP_ALREADY_EXISTS'; -exports[1305] = 'ER_SP_DOES_NOT_EXIST'; -exports[1306] = 'ER_SP_DROP_FAILED'; -exports[1307] = 'ER_SP_STORE_FAILED'; -exports[1308] = 'ER_SP_LILABEL_MISMATCH'; -exports[1309] = 'ER_SP_LABEL_REDEFINE'; -exports[1310] = 'ER_SP_LABEL_MISMATCH'; -exports[1311] = 'ER_SP_UNINIT_VAR'; -exports[1312] = 'ER_SP_BADSELECT'; -exports[1313] = 'ER_SP_BADRETURN'; -exports[1314] = 'ER_SP_BADSTATEMENT'; -exports[1315] = 'ER_UPDATE_LOG_DEPRECATED_IGNORED'; -exports[1316] = 'ER_UPDATE_LOG_DEPRECATED_TRANSLATED'; -exports[1317] = 'ER_QUERY_INTERRUPTED'; -exports[1318] = 'ER_SP_WRONG_NO_OF_ARGS'; -exports[1319] = 'ER_SP_COND_MISMATCH'; -exports[1320] = 'ER_SP_NORETURN'; -exports[1321] = 'ER_SP_NORETURNEND'; -exports[1322] = 'ER_SP_BAD_CURSOR_QUERY'; -exports[1323] = 'ER_SP_BAD_CURSOR_SELECT'; -exports[1324] = 'ER_SP_CURSOR_MISMATCH'; -exports[1325] = 'ER_SP_CURSOR_ALREADY_OPEN'; -exports[1326] = 'ER_SP_CURSOR_NOT_OPEN'; -exports[1327] = 'ER_SP_UNDECLARED_VAR'; -exports[1328] = 'ER_SP_WRONG_NO_OF_FETCH_ARGS'; -exports[1329] = 'ER_SP_FETCH_NO_DATA'; -exports[1330] = 'ER_SP_DUP_PARAM'; -exports[1331] = 'ER_SP_DUP_VAR'; -exports[1332] = 'ER_SP_DUP_COND'; -exports[1333] = 'ER_SP_DUP_CURS'; -exports[1334] = 'ER_SP_CANT_ALTER'; -exports[1335] = 'ER_SP_SUBSELECT_NYI'; -exports[1336] = 'ER_STMT_NOT_ALLOWED_IN_SF_OR_TRG'; -exports[1337] = 'ER_SP_VARCOND_AFTER_CURSHNDLR'; -exports[1338] = 'ER_SP_CURSOR_AFTER_HANDLER'; -exports[1339] = 'ER_SP_CASE_NOT_FOUND'; -exports[1340] = 'ER_FPARSER_TOO_BIG_FILE'; -exports[1341] = 'ER_FPARSER_BAD_HEADER'; -exports[1342] = 'ER_FPARSER_EOF_IN_COMMENT'; -exports[1343] = 'ER_FPARSER_ERROR_IN_PARAMETER'; -exports[1344] = 'ER_FPARSER_EOF_IN_UNKNOWN_PARAMETER'; -exports[1345] = 'ER_VIEW_NO_EXPLAIN'; -exports[1346] = 'ER_FRM_UNKNOWN_TYPE'; -exports[1347] = 'ER_WRONG_OBJECT'; -exports[1348] = 'ER_NONUPDATEABLE_COLUMN'; -exports[1349] = 'ER_VIEW_SELECT_DERIVED'; -exports[1350] = 'ER_VIEW_SELECT_CLAUSE'; -exports[1351] = 'ER_VIEW_SELECT_VARIABLE'; -exports[1352] = 'ER_VIEW_SELECT_TMPTABLE'; -exports[1353] = 'ER_VIEW_WRONG_LIST'; -exports[1354] = 'ER_WARN_VIEW_MERGE'; -exports[1355] = 'ER_WARN_VIEW_WITHOUT_KEY'; -exports[1356] = 'ER_VIEW_INVALID'; -exports[1357] = 'ER_SP_NO_DROP_SP'; -exports[1358] = 'ER_SP_GOTO_IN_HNDLR'; -exports[1359] = 'ER_TRG_ALREADY_EXISTS'; -exports[1360] = 'ER_TRG_DOES_NOT_EXIST'; -exports[1361] = 'ER_TRG_ON_VIEW_OR_TEMP_TABLE'; -exports[1362] = 'ER_TRG_CANT_CHANGE_ROW'; -exports[1363] = 'ER_TRG_NO_SUCH_ROW_IN_TRG'; -exports[1364] = 'ER_NO_DEFAULT_FOR_FIELD'; -exports[1365] = 'ER_DIVISION_BY_ZERO'; -exports[1366] = 'ER_TRUNCATED_WRONG_VALUE_FOR_FIELD'; -exports[1367] = 'ER_ILLEGAL_VALUE_FOR_TYPE'; -exports[1368] = 'ER_VIEW_NONUPD_CHECK'; -exports[1369] = 'ER_VIEW_CHECK_FAILED'; -exports[1370] = 'ER_PROCACCESS_DENIED_ERROR'; -exports[1371] = 'ER_RELAY_LOG_FAIL'; -exports[1372] = 'ER_PASSWD_LENGTH'; -exports[1373] = 'ER_UNKNOWN_TARGET_BINLOG'; -exports[1374] = 'ER_IO_ERR_LOG_INDEX_READ'; -exports[1375] = 'ER_BINLOG_PURGE_PROHIBITED'; -exports[1376] = 'ER_FSEEK_FAIL'; -exports[1377] = 'ER_BINLOG_PURGE_FATAL_ERR'; -exports[1378] = 'ER_LOG_IN_USE'; -exports[1379] = 'ER_LOG_PURGE_UNKNOWN_ERR'; -exports[1380] = 'ER_RELAY_LOG_INIT'; -exports[1381] = 'ER_NO_BINARY_LOGGING'; -exports[1382] = 'ER_RESERVED_SYNTAX'; -exports[1383] = 'ER_WSAS_FAILED'; -exports[1384] = 'ER_DIFF_GROUPS_PROC'; -exports[1385] = 'ER_NO_GROUP_FOR_PROC'; -exports[1386] = 'ER_ORDER_WITH_PROC'; -exports[1387] = 'ER_LOGGING_PROHIBIT_CHANGING_OF'; -exports[1388] = 'ER_NO_FILE_MAPPING'; -exports[1389] = 'ER_WRONG_MAGIC'; -exports[1390] = 'ER_PS_MANY_PARAM'; -exports[1391] = 'ER_KEY_PART_0'; -exports[1392] = 'ER_VIEW_CHECKSUM'; -exports[1393] = 'ER_VIEW_MULTIUPDATE'; -exports[1394] = 'ER_VIEW_NO_INSERT_FIELD_LIST'; -exports[1395] = 'ER_VIEW_DELETE_MERGE_VIEW'; -exports[1396] = 'ER_CANNOT_USER'; -exports[1397] = 'ER_XAER_NOTA'; -exports[1398] = 'ER_XAER_INVAL'; -exports[1399] = 'ER_XAER_RMFAIL'; -exports[1400] = 'ER_XAER_OUTSIDE'; -exports[1401] = 'ER_XAER_RMERR'; -exports[1402] = 'ER_XA_RBROLLBACK'; -exports[1403] = 'ER_NONEXISTING_PROC_GRANT'; -exports[1404] = 'ER_PROC_AUTO_GRANT_FAIL'; -exports[1405] = 'ER_PROC_AUTO_REVOKE_FAIL'; -exports[1406] = 'ER_DATA_TOO_LONG'; -exports[1407] = 'ER_SP_BAD_SQLSTATE'; -exports[1408] = 'ER_STARTUP'; -exports[1409] = 'ER_LOAD_FROM_FIXED_SIZE_ROWS_TO_VAR'; -exports[1410] = 'ER_CANT_CREATE_USER_WITH_GRANT'; -exports[1411] = 'ER_WRONG_VALUE_FOR_TYPE'; -exports[1412] = 'ER_TABLE_DEF_CHANGED'; -exports[1413] = 'ER_SP_DUP_HANDLER'; -exports[1414] = 'ER_SP_NOT_VAR_ARG'; -exports[1415] = 'ER_SP_NO_RETSET'; -exports[1416] = 'ER_CANT_CREATE_GEOMETRY_OBJECT'; -exports[1417] = 'ER_FAILED_ROUTINE_BREAK_BINLOG'; -exports[1418] = 'ER_BINLOG_UNSAFE_ROUTINE'; -exports[1419] = 'ER_BINLOG_CREATE_ROUTINE_NEED_SUPER'; -exports[1420] = 'ER_EXEC_STMT_WITH_OPEN_CURSOR'; -exports[1421] = 'ER_STMT_HAS_NO_OPEN_CURSOR'; -exports[1422] = 'ER_COMMIT_NOT_ALLOWED_IN_SF_OR_TRG'; -exports[1423] = 'ER_NO_DEFAULT_FOR_VIEW_FIELD'; -exports[1424] = 'ER_SP_NO_RECURSION'; -exports[1425] = 'ER_TOO_BIG_SCALE'; -exports[1426] = 'ER_TOO_BIG_PRECISION'; -exports[1427] = 'ER_M_BIGGER_THAN_D'; -exports[1428] = 'ER_WRONG_LOCK_OF_SYSTEM_TABLE'; -exports[1429] = 'ER_CONNECT_TO_FOREIGN_DATA_SOURCE'; -exports[1430] = 'ER_QUERY_ON_FOREIGN_DATA_SOURCE'; -exports[1431] = 'ER_FOREIGN_DATA_SOURCE_DOESNT_EXIST'; -exports[1432] = 'ER_FOREIGN_DATA_STRING_INVALID_CANT_CREATE'; -exports[1433] = 'ER_FOREIGN_DATA_STRING_INVALID'; -exports[1434] = 'ER_CANT_CREATE_FEDERATED_TABLE'; -exports[1435] = 'ER_TRG_IN_WRONG_SCHEMA'; -exports[1436] = 'ER_STACK_OVERRUN_NEED_MORE'; -exports[1437] = 'ER_TOO_LONG_BODY'; -exports[1438] = 'ER_WARN_CANT_DROP_DEFAULT_KEYCACHE'; -exports[1439] = 'ER_TOO_BIG_DISPLAYWIDTH'; -exports[1440] = 'ER_XAER_DUPID'; -exports[1441] = 'ER_DATETIME_FUNCTION_OVERFLOW'; -exports[1442] = 'ER_CANT_UPDATE_USED_TABLE_IN_SF_OR_TRG'; -exports[1443] = 'ER_VIEW_PREVENT_UPDATE'; -exports[1444] = 'ER_PS_NO_RECURSION'; -exports[1445] = 'ER_SP_CANT_SET_AUTOCOMMIT'; -exports[1446] = 'ER_MALFORMED_DEFINER'; -exports[1447] = 'ER_VIEW_FRM_NO_USER'; -exports[1448] = 'ER_VIEW_OTHER_USER'; -exports[1449] = 'ER_NO_SUCH_USER'; -exports[1450] = 'ER_FORBID_SCHEMA_CHANGE'; -exports[1451] = 'ER_ROW_IS_REFERENCED_2'; -exports[1452] = 'ER_NO_REFERENCED_ROW_2'; -exports[1453] = 'ER_SP_BAD_VAR_SHADOW'; -exports[1454] = 'ER_TRG_NO_DEFINER'; -exports[1455] = 'ER_OLD_FILE_FORMAT'; -exports[1456] = 'ER_SP_RECURSION_LIMIT'; -exports[1457] = 'ER_SP_PROC_TABLE_CORRUPT'; -exports[1458] = 'ER_SP_WRONG_NAME'; -exports[1459] = 'ER_TABLE_NEEDS_UPGRADE'; -exports[1460] = 'ER_SP_NO_AGGREGATE'; -exports[1461] = 'ER_MAX_PREPARED_STMT_COUNT_REACHED'; -exports[1462] = 'ER_VIEW_RECURSIVE'; -exports[1463] = 'ER_NON_GROUPING_FIELD_USED'; -exports[1464] = 'ER_TABLE_CANT_HANDLE_SPKEYS'; -exports[1465] = 'ER_NO_TRIGGERS_ON_SYSTEM_SCHEMA'; -exports[1466] = 'ER_REMOVED_SPACES'; -exports[1467] = 'ER_AUTOINC_READ_FAILED'; -exports[1468] = 'ER_USERNAME'; -exports[1469] = 'ER_HOSTNAME'; -exports[1470] = 'ER_WRONG_STRING_LENGTH'; -exports[1471] = 'ER_NON_INSERTABLE_TABLE'; -exports[1472] = 'ER_ADMIN_WRONG_MRG_TABLE'; -exports[1473] = 'ER_TOO_HIGH_LEVEL_OF_NESTING_FOR_SELECT'; -exports[1474] = 'ER_NAME_BECOMES_EMPTY'; -exports[1475] = 'ER_AMBIGUOUS_FIELD_TERM'; -exports[1476] = 'ER_FOREIGN_SERVER_EXISTS'; -exports[1477] = 'ER_FOREIGN_SERVER_DOESNT_EXIST'; -exports[1478] = 'ER_ILLEGAL_HA_CREATE_OPTION'; -exports[1479] = 'ER_PARTITION_REQUIRES_VALUES_ERROR'; -exports[1480] = 'ER_PARTITION_WRONG_VALUES_ERROR'; -exports[1481] = 'ER_PARTITION_MAXVALUE_ERROR'; -exports[1482] = 'ER_PARTITION_SUBPARTITION_ERROR'; -exports[1483] = 'ER_PARTITION_SUBPART_MIX_ERROR'; -exports[1484] = 'ER_PARTITION_WRONG_NO_PART_ERROR'; -exports[1485] = 'ER_PARTITION_WRONG_NO_SUBPART_ERROR'; -exports[1486] = 'ER_WRONG_EXPR_IN_PARTITION_FUNC_ERROR'; -exports[1487] = 'ER_NO_CONST_EXPR_IN_RANGE_OR_LIST_ERROR'; -exports[1488] = 'ER_FIELD_NOT_FOUND_PART_ERROR'; -exports[1489] = 'ER_LIST_OF_FIELDS_ONLY_IN_HASH_ERROR'; -exports[1490] = 'ER_INCONSISTENT_PARTITION_INFO_ERROR'; -exports[1491] = 'ER_PARTITION_FUNC_NOT_ALLOWED_ERROR'; -exports[1492] = 'ER_PARTITIONS_MUST_BE_DEFINED_ERROR'; -exports[1493] = 'ER_RANGE_NOT_INCREASING_ERROR'; -exports[1494] = 'ER_INCONSISTENT_TYPE_OF_FUNCTIONS_ERROR'; -exports[1495] = 'ER_MULTIPLE_DEF_CONST_IN_LIST_PART_ERROR'; -exports[1496] = 'ER_PARTITION_ENTRY_ERROR'; -exports[1497] = 'ER_MIX_HANDLER_ERROR'; -exports[1498] = 'ER_PARTITION_NOT_DEFINED_ERROR'; -exports[1499] = 'ER_TOO_MANY_PARTITIONS_ERROR'; -exports[1500] = 'ER_SUBPARTITION_ERROR'; -exports[1501] = 'ER_CANT_CREATE_HANDLER_FILE'; -exports[1502] = 'ER_BLOB_FIELD_IN_PART_FUNC_ERROR'; -exports[1503] = 'ER_UNIQUE_KEY_NEED_ALL_FIELDS_IN_PF'; -exports[1504] = 'ER_NO_PARTS_ERROR'; -exports[1505] = 'ER_PARTITION_MGMT_ON_NONPARTITIONED'; -exports[1506] = 'ER_FOREIGN_KEY_ON_PARTITIONED'; -exports[1507] = 'ER_DROP_PARTITION_NON_EXISTENT'; -exports[1508] = 'ER_DROP_LAST_PARTITION'; -exports[1509] = 'ER_COALESCE_ONLY_ON_HASH_PARTITION'; -exports[1510] = 'ER_REORG_HASH_ONLY_ON_SAME_NO'; -exports[1511] = 'ER_REORG_NO_PARAM_ERROR'; -exports[1512] = 'ER_ONLY_ON_RANGE_LIST_PARTITION'; -exports[1513] = 'ER_ADD_PARTITION_SUBPART_ERROR'; -exports[1514] = 'ER_ADD_PARTITION_NO_NEW_PARTITION'; -exports[1515] = 'ER_COALESCE_PARTITION_NO_PARTITION'; -exports[1516] = 'ER_REORG_PARTITION_NOT_EXIST'; -exports[1517] = 'ER_SAME_NAME_PARTITION'; -exports[1518] = 'ER_NO_BINLOG_ERROR'; -exports[1519] = 'ER_CONSECUTIVE_REORG_PARTITIONS'; -exports[1520] = 'ER_REORG_OUTSIDE_RANGE'; -exports[1521] = 'ER_PARTITION_FUNCTION_FAILURE'; -exports[1522] = 'ER_PART_STATE_ERROR'; -exports[1523] = 'ER_LIMITED_PART_RANGE'; -exports[1524] = 'ER_PLUGIN_IS_NOT_LOADED'; -exports[1525] = 'ER_WRONG_VALUE'; -exports[1526] = 'ER_NO_PARTITION_FOR_GIVEN_VALUE'; -exports[1527] = 'ER_FILEGROUP_OPTION_ONLY_ONCE'; -exports[1528] = 'ER_CREATE_FILEGROUP_FAILED'; -exports[1529] = 'ER_DROP_FILEGROUP_FAILED'; -exports[1530] = 'ER_TABLESPACE_AUTO_EXTEND_ERROR'; -exports[1531] = 'ER_WRONG_SIZE_NUMBER'; -exports[1532] = 'ER_SIZE_OVERFLOW_ERROR'; -exports[1533] = 'ER_ALTER_FILEGROUP_FAILED'; -exports[1534] = 'ER_BINLOG_ROW_LOGGING_FAILED'; -exports[1535] = 'ER_BINLOG_ROW_WRONG_TABLE_DEF'; -exports[1536] = 'ER_BINLOG_ROW_RBR_TO_SBR'; -exports[1537] = 'ER_EVENT_ALREADY_EXISTS'; -exports[1538] = 'ER_EVENT_STORE_FAILED'; -exports[1539] = 'ER_EVENT_DOES_NOT_EXIST'; -exports[1540] = 'ER_EVENT_CANT_ALTER'; -exports[1541] = 'ER_EVENT_DROP_FAILED'; -exports[1542] = 'ER_EVENT_INTERVAL_NOT_POSITIVE_OR_TOO_BIG'; -exports[1543] = 'ER_EVENT_ENDS_BEFORE_STARTS'; -exports[1544] = 'ER_EVENT_EXEC_TIME_IN_THE_PAST'; -exports[1545] = 'ER_EVENT_OPEN_TABLE_FAILED'; -exports[1546] = 'ER_EVENT_NEITHER_M_EXPR_NOR_M_AT'; -exports[1547] = 'ER_COL_COUNT_DOESNT_MATCH_CORRUPTED'; -exports[1548] = 'ER_CANNOT_LOAD_FROM_TABLE'; -exports[1549] = 'ER_EVENT_CANNOT_DELETE'; -exports[1550] = 'ER_EVENT_COMPILE_ERROR'; -exports[1551] = 'ER_EVENT_SAME_NAME'; -exports[1552] = 'ER_EVENT_DATA_TOO_LONG'; -exports[1553] = 'ER_DROP_INDEX_FK'; -exports[1554] = 'ER_WARN_DEPRECATED_SYNTAX_WITH_VER'; -exports[1555] = 'ER_CANT_WRITE_LOCK_LOG_TABLE'; -exports[1556] = 'ER_CANT_LOCK_LOG_TABLE'; -exports[1557] = 'ER_FOREIGN_DUPLICATE_KEY'; -exports[1558] = 'ER_COL_COUNT_DOESNT_MATCH_PLEASE_UPDATE'; -exports[1559] = 'ER_TEMP_TABLE_PREVENTS_SWITCH_OUT_OF_RBR'; -exports[1560] = 'ER_STORED_FUNCTION_PREVENTS_SWITCH_BINLOG_FORMAT'; -exports[1561] = 'ER_NDB_CANT_SWITCH_BINLOG_FORMAT'; -exports[1562] = 'ER_PARTITION_NO_TEMPORARY'; -exports[1563] = 'ER_PARTITION_CONST_DOMAIN_ERROR'; -exports[1564] = 'ER_PARTITION_FUNCTION_IS_NOT_ALLOWED'; -exports[1565] = 'ER_DDL_LOG_ERROR'; -exports[1566] = 'ER_NULL_IN_VALUES_LESS_THAN'; -exports[1567] = 'ER_WRONG_PARTITION_NAME'; -exports[1568] = 'ER_CANT_CHANGE_TX_CHARACTERISTICS'; -exports[1569] = 'ER_DUP_ENTRY_AUTOINCREMENT_CASE'; -exports[1570] = 'ER_EVENT_MODIFY_QUEUE_ERROR'; -exports[1571] = 'ER_EVENT_SET_VAR_ERROR'; -exports[1572] = 'ER_PARTITION_MERGE_ERROR'; -exports[1573] = 'ER_CANT_ACTIVATE_LOG'; -exports[1574] = 'ER_RBR_NOT_AVAILABLE'; -exports[1575] = 'ER_BASE64_DECODE_ERROR'; -exports[1576] = 'ER_EVENT_RECURSION_FORBIDDEN'; -exports[1577] = 'ER_EVENTS_DB_ERROR'; -exports[1578] = 'ER_ONLY_INTEGERS_ALLOWED'; -exports[1579] = 'ER_UNSUPORTED_LOG_ENGINE'; -exports[1580] = 'ER_BAD_LOG_STATEMENT'; -exports[1581] = 'ER_CANT_RENAME_LOG_TABLE'; -exports[1582] = 'ER_WRONG_PARAMCOUNT_TO_NATIVE_FCT'; -exports[1583] = 'ER_WRONG_PARAMETERS_TO_NATIVE_FCT'; -exports[1584] = 'ER_WRONG_PARAMETERS_TO_STORED_FCT'; -exports[1585] = 'ER_NATIVE_FCT_NAME_COLLISION'; -exports[1586] = 'ER_DUP_ENTRY_WITH_KEY_NAME'; -exports[1587] = 'ER_BINLOG_PURGE_EMFILE'; -exports[1588] = 'ER_EVENT_CANNOT_CREATE_IN_THE_PAST'; -exports[1589] = 'ER_EVENT_CANNOT_ALTER_IN_THE_PAST'; -exports[1590] = 'ER_SLAVE_INCIDENT'; -exports[1591] = 'ER_NO_PARTITION_FOR_GIVEN_VALUE_SILENT'; -exports[1592] = 'ER_BINLOG_UNSAFE_STATEMENT'; -exports[1593] = 'ER_SLAVE_FATAL_ERROR'; -exports[1594] = 'ER_SLAVE_RELAY_LOG_READ_FAILURE'; -exports[1595] = 'ER_SLAVE_RELAY_LOG_WRITE_FAILURE'; -exports[1596] = 'ER_SLAVE_CREATE_EVENT_FAILURE'; -exports[1597] = 'ER_SLAVE_MASTER_COM_FAILURE'; -exports[1598] = 'ER_BINLOG_LOGGING_IMPOSSIBLE'; -exports[1599] = 'ER_VIEW_NO_CREATION_CTX'; -exports[1600] = 'ER_VIEW_INVALID_CREATION_CTX'; -exports[1601] = 'ER_SR_INVALID_CREATION_CTX'; -exports[1602] = 'ER_TRG_CORRUPTED_FILE'; -exports[1603] = 'ER_TRG_NO_CREATION_CTX'; -exports[1604] = 'ER_TRG_INVALID_CREATION_CTX'; -exports[1605] = 'ER_EVENT_INVALID_CREATION_CTX'; -exports[1606] = 'ER_TRG_CANT_OPEN_TABLE'; -exports[1607] = 'ER_CANT_CREATE_SROUTINE'; -exports[1608] = 'ER_NEVER_USED'; -exports[1609] = 'ER_NO_FORMAT_DESCRIPTION_EVENT_BEFORE_BINLOG_STATEMENT'; -exports[1610] = 'ER_SLAVE_CORRUPT_EVENT'; -exports[1611] = 'ER_LOAD_DATA_INVALID_COLUMN'; -exports[1612] = 'ER_LOG_PURGE_NO_FILE'; -exports[1613] = 'ER_XA_RBTIMEOUT'; -exports[1614] = 'ER_XA_RBDEADLOCK'; -exports[1615] = 'ER_NEED_REPREPARE'; -exports[1616] = 'ER_DELAYED_NOT_SUPPORTED'; -exports[1617] = 'WARN_NO_MASTER_INFO'; -exports[1618] = 'WARN_OPTION_IGNORED'; -exports[1619] = 'ER_PLUGIN_DELETE_BUILTIN'; -exports[1620] = 'WARN_PLUGIN_BUSY'; -exports[1621] = 'ER_VARIABLE_IS_READONLY'; -exports[1622] = 'ER_WARN_ENGINE_TRANSACTION_ROLLBACK'; -exports[1623] = 'ER_SLAVE_HEARTBEAT_FAILURE'; -exports[1624] = 'ER_SLAVE_HEARTBEAT_VALUE_OUT_OF_RANGE'; -exports[1625] = 'ER_NDB_REPLICATION_SCHEMA_ERROR'; -exports[1626] = 'ER_CONFLICT_FN_PARSE_ERROR'; -exports[1627] = 'ER_EXCEPTIONS_WRITE_ERROR'; -exports[1628] = 'ER_TOO_LONG_TABLE_COMMENT'; -exports[1629] = 'ER_TOO_LONG_FIELD_COMMENT'; -exports[1630] = 'ER_FUNC_INEXISTENT_NAME_COLLISION'; -exports[1631] = 'ER_DATABASE_NAME'; -exports[1632] = 'ER_TABLE_NAME'; -exports[1633] = 'ER_PARTITION_NAME'; -exports[1634] = 'ER_SUBPARTITION_NAME'; -exports[1635] = 'ER_TEMPORARY_NAME'; -exports[1636] = 'ER_RENAMED_NAME'; -exports[1637] = 'ER_TOO_MANY_CONCURRENT_TRXS'; -exports[1638] = 'WARN_NON_ASCII_SEPARATOR_NOT_IMPLEMENTED'; -exports[1639] = 'ER_DEBUG_SYNC_TIMEOUT'; -exports[1640] = 'ER_DEBUG_SYNC_HIT_LIMIT'; -exports[1641] = 'ER_DUP_SIGNAL_SET'; -exports[1642] = 'ER_SIGNAL_WARN'; -exports[1643] = 'ER_SIGNAL_NOT_FOUND'; -exports[1644] = 'ER_SIGNAL_EXCEPTION'; -exports[1645] = 'ER_RESIGNAL_WITHOUT_ACTIVE_HANDLER'; -exports[1646] = 'ER_SIGNAL_BAD_CONDITION_TYPE'; -exports[1647] = 'WARN_COND_ITEM_TRUNCATED'; -exports[1648] = 'ER_COND_ITEM_TOO_LONG'; -exports[1649] = 'ER_UNKNOWN_LOCALE'; -exports[1650] = 'ER_SLAVE_IGNORE_SERVER_IDS'; -exports[1651] = 'ER_QUERY_CACHE_DISABLED'; -exports[1652] = 'ER_SAME_NAME_PARTITION_FIELD'; -exports[1653] = 'ER_PARTITION_COLUMN_LIST_ERROR'; -exports[1654] = 'ER_WRONG_TYPE_COLUMN_VALUE_ERROR'; -exports[1655] = 'ER_TOO_MANY_PARTITION_FUNC_FIELDS_ERROR'; -exports[1656] = 'ER_MAXVALUE_IN_VALUES_IN'; -exports[1657] = 'ER_TOO_MANY_VALUES_ERROR'; -exports[1658] = 'ER_ROW_SINGLE_PARTITION_FIELD_ERROR'; -exports[1659] = 'ER_FIELD_TYPE_NOT_ALLOWED_AS_PARTITION_FIELD'; -exports[1660] = 'ER_PARTITION_FIELDS_TOO_LONG'; -exports[1661] = 'ER_BINLOG_ROW_ENGINE_AND_STMT_ENGINE'; -exports[1662] = 'ER_BINLOG_ROW_MODE_AND_STMT_ENGINE'; -exports[1663] = 'ER_BINLOG_UNSAFE_AND_STMT_ENGINE'; -exports[1664] = 'ER_BINLOG_ROW_INJECTION_AND_STMT_ENGINE'; -exports[1665] = 'ER_BINLOG_STMT_MODE_AND_ROW_ENGINE'; -exports[1666] = 'ER_BINLOG_ROW_INJECTION_AND_STMT_MODE'; -exports[1667] = 'ER_BINLOG_MULTIPLE_ENGINES_AND_SELF_LOGGING_ENGINE'; -exports[1668] = 'ER_BINLOG_UNSAFE_LIMIT'; -exports[1669] = 'ER_BINLOG_UNSAFE_INSERT_DELAYED'; -exports[1670] = 'ER_BINLOG_UNSAFE_SYSTEM_TABLE'; -exports[1671] = 'ER_BINLOG_UNSAFE_AUTOINC_COLUMNS'; -exports[1672] = 'ER_BINLOG_UNSAFE_UDF'; -exports[1673] = 'ER_BINLOG_UNSAFE_SYSTEM_VARIABLE'; -exports[1674] = 'ER_BINLOG_UNSAFE_SYSTEM_FUNCTION'; -exports[1675] = 'ER_BINLOG_UNSAFE_NONTRANS_AFTER_TRANS'; -exports[1676] = 'ER_MESSAGE_AND_STATEMENT'; -exports[1677] = 'ER_SLAVE_CONVERSION_FAILED'; -exports[1678] = 'ER_SLAVE_CANT_CREATE_CONVERSION'; -exports[1679] = 'ER_INSIDE_TRANSACTION_PREVENTS_SWITCH_BINLOG_FORMAT'; -exports[1680] = 'ER_PATH_LENGTH'; -exports[1681] = 'ER_WARN_DEPRECATED_SYNTAX_NO_REPLACEMENT'; -exports[1682] = 'ER_WRONG_NATIVE_TABLE_STRUCTURE'; -exports[1683] = 'ER_WRONG_PERFSCHEMA_USAGE'; -exports[1684] = 'ER_WARN_I_S_SKIPPED_TABLE'; -exports[1685] = 'ER_INSIDE_TRANSACTION_PREVENTS_SWITCH_BINLOG_DIRECT'; -exports[1686] = 'ER_STORED_FUNCTION_PREVENTS_SWITCH_BINLOG_DIRECT'; -exports[1687] = 'ER_SPATIAL_MUST_HAVE_GEOM_COL'; -exports[1688] = 'ER_TOO_LONG_INDEX_COMMENT'; -exports[1689] = 'ER_LOCK_ABORTED'; -exports[1690] = 'ER_DATA_OUT_OF_RANGE'; -exports[1691] = 'ER_WRONG_SPVAR_TYPE_IN_LIMIT'; -exports[1692] = 'ER_BINLOG_UNSAFE_MULTIPLE_ENGINES_AND_SELF_LOGGING_ENGINE'; -exports[1693] = 'ER_BINLOG_UNSAFE_MIXED_STATEMENT'; -exports[1694] = 'ER_INSIDE_TRANSACTION_PREVENTS_SWITCH_SQL_LOG_BIN'; -exports[1695] = 'ER_STORED_FUNCTION_PREVENTS_SWITCH_SQL_LOG_BIN'; -exports[1696] = 'ER_FAILED_READ_FROM_PAR_FILE'; -exports[1697] = 'ER_VALUES_IS_NOT_INT_TYPE_ERROR'; -exports[1698] = 'ER_ACCESS_DENIED_NO_PASSWORD_ERROR'; -exports[1699] = 'ER_SET_PASSWORD_AUTH_PLUGIN'; -exports[1700] = 'ER_GRANT_PLUGIN_USER_EXISTS'; -exports[1701] = 'ER_TRUNCATE_ILLEGAL_FK'; -exports[1702] = 'ER_PLUGIN_IS_PERMANENT'; -exports[1703] = 'ER_SLAVE_HEARTBEAT_VALUE_OUT_OF_RANGE_MIN'; -exports[1704] = 'ER_SLAVE_HEARTBEAT_VALUE_OUT_OF_RANGE_MAX'; -exports[1705] = 'ER_STMT_CACHE_FULL'; -exports[1706] = 'ER_MULTI_UPDATE_KEY_CONFLICT'; -exports[1707] = 'ER_TABLE_NEEDS_REBUILD'; -exports[1708] = 'WARN_OPTION_BELOW_LIMIT'; -exports[1709] = 'ER_INDEX_COLUMN_TOO_LONG'; -exports[1710] = 'ER_ERROR_IN_TRIGGER_BODY'; -exports[1711] = 'ER_ERROR_IN_UNKNOWN_TRIGGER_BODY'; -exports[1712] = 'ER_INDEX_CORRUPT'; -exports[1713] = 'ER_UNDO_RECORD_TOO_BIG'; -exports[1714] = 'ER_BINLOG_UNSAFE_INSERT_IGNORE_SELECT'; -exports[1715] = 'ER_BINLOG_UNSAFE_INSERT_SELECT_UPDATE'; -exports[1716] = 'ER_BINLOG_UNSAFE_REPLACE_SELECT'; -exports[1717] = 'ER_BINLOG_UNSAFE_CREATE_IGNORE_SELECT'; -exports[1718] = 'ER_BINLOG_UNSAFE_CREATE_REPLACE_SELECT'; -exports[1719] = 'ER_BINLOG_UNSAFE_UPDATE_IGNORE'; -exports[1720] = 'ER_PLUGIN_NO_UNINSTALL'; -exports[1721] = 'ER_PLUGIN_NO_INSTALL'; -exports[1722] = 'ER_BINLOG_UNSAFE_WRITE_AUTOINC_SELECT'; -exports[1723] = 'ER_BINLOG_UNSAFE_CREATE_SELECT_AUTOINC'; -exports[1724] = 'ER_BINLOG_UNSAFE_INSERT_TWO_KEYS'; -exports[1725] = 'ER_TABLE_IN_FK_CHECK'; -exports[1726] = 'ER_UNSUPPORTED_ENGINE'; -exports[1727] = 'ER_BINLOG_UNSAFE_AUTOINC_NOT_FIRST'; -exports[1728] = 'ER_CANNOT_LOAD_FROM_TABLE_V2'; -exports[1729] = 'ER_MASTER_DELAY_VALUE_OUT_OF_RANGE'; -exports[1730] = 'ER_ONLY_FD_AND_RBR_EVENTS_ALLOWED_IN_BINLOG_STATEMENT'; -exports[1731] = 'ER_PARTITION_EXCHANGE_DIFFERENT_OPTION'; -exports[1732] = 'ER_PARTITION_EXCHANGE_PART_TABLE'; -exports[1733] = 'ER_PARTITION_EXCHANGE_TEMP_TABLE'; -exports[1734] = 'ER_PARTITION_INSTEAD_OF_SUBPARTITION'; -exports[1735] = 'ER_UNKNOWN_PARTITION'; -exports[1736] = 'ER_TABLES_DIFFERENT_METADATA'; -exports[1737] = 'ER_ROW_DOES_NOT_MATCH_PARTITION'; -exports[1738] = 'ER_BINLOG_CACHE_SIZE_GREATER_THAN_MAX'; -exports[1739] = 'ER_WARN_INDEX_NOT_APPLICABLE'; -exports[1740] = 'ER_PARTITION_EXCHANGE_FOREIGN_KEY'; -exports[1741] = 'ER_NO_SUCH_KEY_VALUE'; -exports[1742] = 'ER_RPL_INFO_DATA_TOO_LONG'; -exports[1743] = 'ER_NETWORK_READ_EVENT_CHECKSUM_FAILURE'; -exports[1744] = 'ER_BINLOG_READ_EVENT_CHECKSUM_FAILURE'; -exports[1745] = 'ER_BINLOG_STMT_CACHE_SIZE_GREATER_THAN_MAX'; -exports[1746] = 'ER_CANT_UPDATE_TABLE_IN_CREATE_TABLE_SELECT'; -exports[1747] = 'ER_PARTITION_CLAUSE_ON_NONPARTITIONED'; -exports[1748] = 'ER_ROW_DOES_NOT_MATCH_GIVEN_PARTITION_SET'; -exports[1749] = 'ER_NO_SUCH_PARTITION'; -exports[1750] = 'ER_CHANGE_RPL_INFO_REPOSITORY_FAILURE'; -exports[1751] = 'ER_WARNING_NOT_COMPLETE_ROLLBACK_WITH_CREATED_TEMP_TABLE'; -exports[1752] = 'ER_WARNING_NOT_COMPLETE_ROLLBACK_WITH_DROPPED_TEMP_TABLE'; -exports[1753] = 'ER_MTS_FEATURE_IS_NOT_SUPPORTED'; -exports[1754] = 'ER_MTS_UPDATED_DBS_GREATER_MAX'; -exports[1755] = 'ER_MTS_CANT_PARALLEL'; -exports[1756] = 'ER_MTS_INCONSISTENT_DATA'; -exports[1757] = 'ER_FULLTEXT_NOT_SUPPORTED_WITH_PARTITIONING'; -exports[1758] = 'ER_DA_INVALID_CONDITION_NUMBER'; -exports[1759] = 'ER_INSECURE_PLAIN_TEXT'; -exports[1760] = 'ER_INSECURE_CHANGE_MASTER'; -exports[1761] = 'ER_FOREIGN_DUPLICATE_KEY_WITH_CHILD_INFO'; -exports[1762] = 'ER_FOREIGN_DUPLICATE_KEY_WITHOUT_CHILD_INFO'; -exports[1763] = 'ER_SQLTHREAD_WITH_SECURE_SLAVE'; -exports[1764] = 'ER_TABLE_HAS_NO_FT'; -exports[1765] = 'ER_VARIABLE_NOT_SETTABLE_IN_SF_OR_TRIGGER'; -exports[1766] = 'ER_VARIABLE_NOT_SETTABLE_IN_TRANSACTION'; -exports[1767] = 'ER_GTID_NEXT_IS_NOT_IN_GTID_NEXT_LIST'; -exports[1768] = 'ER_CANT_CHANGE_GTID_NEXT_IN_TRANSACTION'; -exports[1769] = 'ER_SET_STATEMENT_CANNOT_INVOKE_FUNCTION'; -exports[1770] = 'ER_GTID_NEXT_CANT_BE_AUTOMATIC_IF_GTID_NEXT_LIST_IS_NON_NULL'; -exports[1771] = 'ER_SKIPPING_LOGGED_TRANSACTION'; -exports[1772] = 'ER_MALFORMED_GTID_SET_SPECIFICATION'; -exports[1773] = 'ER_MALFORMED_GTID_SET_ENCODING'; -exports[1774] = 'ER_MALFORMED_GTID_SPECIFICATION'; -exports[1775] = 'ER_GNO_EXHAUSTED'; -exports[1776] = 'ER_BAD_SLAVE_AUTO_POSITION'; -exports[1777] = 'ER_AUTO_POSITION_REQUIRES_GTID_MODE_NOT_OFF'; -exports[1778] = 'ER_CANT_DO_IMPLICIT_COMMIT_IN_TRX_WHEN_GTID_NEXT_IS_SET'; -exports[1779] = 'ER_GTID_MODE_ON_REQUIRES_ENFORCE_GTID_CONSISTENCY_ON'; -exports[1780] = 'ER_GTID_MODE_REQUIRES_BINLOG'; -exports[1781] = 'ER_CANT_SET_GTID_NEXT_TO_GTID_WHEN_GTID_MODE_IS_OFF'; -exports[1782] = 'ER_CANT_SET_GTID_NEXT_TO_ANONYMOUS_WHEN_GTID_MODE_IS_ON'; -exports[1783] = 'ER_CANT_SET_GTID_NEXT_LIST_TO_NON_NULL_WHEN_GTID_MODE_IS_OFF'; -exports[1784] = 'ER_FOUND_GTID_EVENT_WHEN_GTID_MODE_IS_OFF'; -exports[1785] = 'ER_GTID_UNSAFE_NON_TRANSACTIONAL_TABLE'; -exports[1786] = 'ER_GTID_UNSAFE_CREATE_SELECT'; -exports[1787] = 'ER_GTID_UNSAFE_CREATE_DROP_TEMPORARY_TABLE_IN_TRANSACTION'; -exports[1788] = 'ER_GTID_MODE_CAN_ONLY_CHANGE_ONE_STEP_AT_A_TIME'; -exports[1789] = 'ER_MASTER_HAS_PURGED_REQUIRED_GTIDS'; -exports[1790] = 'ER_CANT_SET_GTID_NEXT_WHEN_OWNING_GTID'; -exports[1791] = 'ER_UNKNOWN_EXPLAIN_FORMAT'; -exports[1792] = 'ER_CANT_EXECUTE_IN_READ_ONLY_TRANSACTION'; -exports[1793] = 'ER_TOO_LONG_TABLE_PARTITION_COMMENT'; -exports[1794] = 'ER_SLAVE_CONFIGURATION'; -exports[1795] = 'ER_INNODB_FT_LIMIT'; -exports[1796] = 'ER_INNODB_NO_FT_TEMP_TABLE'; -exports[1797] = 'ER_INNODB_FT_WRONG_DOCID_COLUMN'; -exports[1798] = 'ER_INNODB_FT_WRONG_DOCID_INDEX'; -exports[1799] = 'ER_INNODB_ONLINE_LOG_TOO_BIG'; -exports[1800] = 'ER_UNKNOWN_ALTER_ALGORITHM'; -exports[1801] = 'ER_UNKNOWN_ALTER_LOCK'; -exports[1802] = 'ER_MTS_CHANGE_MASTER_CANT_RUN_WITH_GAPS'; -exports[1803] = 'ER_MTS_RECOVERY_FAILURE'; -exports[1804] = 'ER_MTS_RESET_WORKERS'; -exports[1805] = 'ER_COL_COUNT_DOESNT_MATCH_CORRUPTED_V2'; -exports[1806] = 'ER_SLAVE_SILENT_RETRY_TRANSACTION'; -exports[1807] = 'ER_DISCARD_FK_CHECKS_RUNNING'; -exports[1808] = 'ER_TABLE_SCHEMA_MISMATCH'; -exports[1809] = 'ER_TABLE_IN_SYSTEM_TABLESPACE'; -exports[1810] = 'ER_IO_READ_ERROR'; -exports[1811] = 'ER_IO_WRITE_ERROR'; -exports[1812] = 'ER_TABLESPACE_MISSING'; -exports[1813] = 'ER_TABLESPACE_EXISTS'; -exports[1814] = 'ER_TABLESPACE_DISCARDED'; -exports[1815] = 'ER_INTERNAL_ERROR'; -exports[1816] = 'ER_INNODB_IMPORT_ERROR'; -exports[1817] = 'ER_INNODB_INDEX_CORRUPT'; -exports[1818] = 'ER_INVALID_YEAR_COLUMN_LENGTH'; -exports[1819] = 'ER_NOT_VALID_PASSWORD'; -exports[1820] = 'ER_MUST_CHANGE_PASSWORD'; -exports[1821] = 'ER_FK_NO_INDEX_CHILD'; -exports[1822] = 'ER_FK_NO_INDEX_PARENT'; -exports[1823] = 'ER_FK_FAIL_ADD_SYSTEM'; -exports[1824] = 'ER_FK_CANNOT_OPEN_PARENT'; -exports[1825] = 'ER_FK_INCORRECT_OPTION'; -exports[1826] = 'ER_FK_DUP_NAME'; -exports[1827] = 'ER_PASSWORD_FORMAT'; -exports[1828] = 'ER_FK_COLUMN_CANNOT_DROP'; -exports[1829] = 'ER_FK_COLUMN_CANNOT_DROP_CHILD'; -exports[1830] = 'ER_FK_COLUMN_NOT_NULL'; -exports[1831] = 'ER_DUP_INDEX'; -exports[1832] = 'ER_FK_COLUMN_CANNOT_CHANGE'; -exports[1833] = 'ER_FK_COLUMN_CANNOT_CHANGE_CHILD'; -exports[1834] = 'ER_FK_CANNOT_DELETE_PARENT'; -exports[1835] = 'ER_MALFORMED_PACKET'; -exports[1836] = 'ER_READ_ONLY_MODE'; -exports[1837] = 'ER_GTID_NEXT_TYPE_UNDEFINED_GROUP'; -exports[1838] = 'ER_VARIABLE_NOT_SETTABLE_IN_SP'; -exports[1839] = 'ER_CANT_SET_GTID_PURGED_WHEN_GTID_MODE_IS_OFF'; -exports[1840] = 'ER_CANT_SET_GTID_PURGED_WHEN_GTID_EXECUTED_IS_NOT_EMPTY'; -exports[1841] = 'ER_CANT_SET_GTID_PURGED_WHEN_OWNED_GTIDS_IS_NOT_EMPTY'; -exports[1842] = 'ER_GTID_PURGED_WAS_CHANGED'; -exports[1843] = 'ER_GTID_EXECUTED_WAS_CHANGED'; -exports[1844] = 'ER_BINLOG_STMT_MODE_AND_NO_REPL_TABLES'; -exports[1845] = 'ER_ALTER_OPERATION_NOT_SUPPORTED'; -exports[1846] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON'; -exports[1847] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_COPY'; -exports[1848] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_PARTITION'; -exports[1849] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_FK_RENAME'; -exports[1850] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_COLUMN_TYPE'; -exports[1851] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_FK_CHECK'; -exports[1852] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_IGNORE'; -exports[1853] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_NOPK'; -exports[1854] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_AUTOINC'; -exports[1855] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_HIDDEN_FTS'; -exports[1856] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_CHANGE_FTS'; -exports[1857] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_FTS'; -exports[1858] = 'ER_SQL_SLAVE_SKIP_COUNTER_NOT_SETTABLE_IN_GTID_MODE'; -exports[1859] = 'ER_DUP_UNKNOWN_IN_INDEX'; -exports[1860] = 'ER_IDENT_CAUSES_TOO_LONG_PATH'; -exports[1861] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_NOT_NULL'; -exports[1862] = 'ER_MUST_CHANGE_PASSWORD_LOGIN'; -exports[1863] = 'ER_ROW_IN_WRONG_PARTITION'; -exports[1864] = 'ER_MTS_EVENT_BIGGER_PENDING_JOBS_SIZE_MAX'; -exports[1865] = 'ER_INNODB_NO_FT_USES_PARSER'; -exports[1866] = 'ER_BINLOG_LOGICAL_CORRUPTION'; -exports[1867] = 'ER_WARN_PURGE_LOG_IN_USE'; -exports[1868] = 'ER_WARN_PURGE_LOG_IS_ACTIVE'; -exports[1869] = 'ER_AUTO_INCREMENT_CONFLICT'; -exports[1870] = 'WARN_ON_BLOCKHOLE_IN_RBR'; -exports[1871] = 'ER_SLAVE_MI_INIT_REPOSITORY'; -exports[1872] = 'ER_SLAVE_RLI_INIT_REPOSITORY'; -exports[1873] = 'ER_ACCESS_DENIED_CHANGE_USER_ERROR'; -exports[1874] = 'ER_INNODB_READ_ONLY'; -exports[1875] = 'ER_STOP_SLAVE_SQL_THREAD_TIMEOUT'; -exports[1876] = 'ER_STOP_SLAVE_IO_THREAD_TIMEOUT'; -exports[1877] = 'ER_TABLE_CORRUPT'; -exports[1878] = 'ER_TEMP_FILE_WRITE_FAILURE'; -exports[1879] = 'ER_INNODB_FT_AUX_NOT_HEX_ID'; -exports[1880] = 'ER_OLD_TEMPORALS_UPGRADED'; -exports[1881] = 'ER_INNODB_FORCED_RECOVERY'; -exports[1882] = 'ER_AES_INVALID_IV'; -exports[1883] = 'ER_PLUGIN_CANNOT_BE_UNINSTALLED'; -exports[1884] = 'ER_GTID_UNSAFE_BINLOG_SPLITTABLE_STATEMENT_AND_GTID_GROUP'; -exports[1885] = 'ER_SLAVE_HAS_MORE_GTIDS_THAN_MASTER'; -exports[1886] = 'ER_MISSING_KEY'; -exports[1887] = 'WARN_NAMED_PIPE_ACCESS_EVERYONE'; -exports[1888] = 'ER_FOUND_MISSING_GTIDS'; -exports[3000] = 'ER_FILE_CORRUPT'; -exports[3001] = 'ER_ERROR_ON_MASTER'; -exports[3002] = 'ER_INCONSISTENT_ERROR'; -exports[3003] = 'ER_STORAGE_ENGINE_NOT_LOADED'; -exports[3004] = 'ER_GET_STACKED_DA_WITHOUT_ACTIVE_HANDLER'; -exports[3005] = 'ER_WARN_LEGACY_SYNTAX_CONVERTED'; -exports[3006] = 'ER_BINLOG_UNSAFE_FULLTEXT_PLUGIN'; -exports[3007] = 'ER_CANNOT_DISCARD_TEMPORARY_TABLE'; -exports[3008] = 'ER_FK_DEPTH_EXCEEDED'; -exports[3009] = 'ER_COL_COUNT_DOESNT_MATCH_PLEASE_UPDATE_V2'; -exports[3010] = 'ER_WARN_TRIGGER_DOESNT_HAVE_CREATED'; -exports[3011] = 'ER_REFERENCED_TRG_DOES_NOT_EXIST'; -exports[3012] = 'ER_EXPLAIN_NOT_SUPPORTED'; -exports[3013] = 'ER_INVALID_FIELD_SIZE'; -exports[3014] = 'ER_MISSING_HA_CREATE_OPTION'; -exports[3015] = 'ER_ENGINE_OUT_OF_MEMORY'; -exports[3016] = 'ER_PASSWORD_EXPIRE_ANONYMOUS_USER'; -exports[3017] = 'ER_SLAVE_SQL_THREAD_MUST_STOP'; -exports[3018] = 'ER_NO_FT_MATERIALIZED_SUBQUERY'; -exports[3019] = 'ER_INNODB_UNDO_LOG_FULL'; -exports[3020] = 'ER_INVALID_ARGUMENT_FOR_LOGARITHM'; -exports[3021] = 'ER_SLAVE_CHANNEL_IO_THREAD_MUST_STOP'; -exports[3022] = 'ER_WARN_OPEN_TEMP_TABLES_MUST_BE_ZERO'; -exports[3023] = 'ER_WARN_ONLY_MASTER_LOG_FILE_NO_POS'; -exports[3024] = 'ER_QUERY_TIMEOUT'; -exports[3025] = 'ER_NON_RO_SELECT_DISABLE_TIMER'; -exports[3026] = 'ER_DUP_LIST_ENTRY'; -exports[3027] = 'ER_SQL_MODE_NO_EFFECT'; -exports[3028] = 'ER_AGGREGATE_ORDER_FOR_UNION'; -exports[3029] = 'ER_AGGREGATE_ORDER_NON_AGG_QUERY'; -exports[3030] = 'ER_SLAVE_WORKER_STOPPED_PREVIOUS_THD_ERROR'; -exports[3031] = 'ER_DONT_SUPPORT_SLAVE_PRESERVE_COMMIT_ORDER'; -exports[3032] = 'ER_SERVER_OFFLINE_MODE'; -exports[3033] = 'ER_GIS_DIFFERENT_SRIDS'; -exports[3034] = 'ER_GIS_UNSUPPORTED_ARGUMENT'; -exports[3035] = 'ER_GIS_UNKNOWN_ERROR'; -exports[3036] = 'ER_GIS_UNKNOWN_EXCEPTION'; -exports[3037] = 'ER_GIS_INVALID_DATA'; -exports[3038] = 'ER_BOOST_GEOMETRY_EMPTY_INPUT_EXCEPTION'; -exports[3039] = 'ER_BOOST_GEOMETRY_CENTROID_EXCEPTION'; -exports[3040] = 'ER_BOOST_GEOMETRY_OVERLAY_INVALID_INPUT_EXCEPTION'; -exports[3041] = 'ER_BOOST_GEOMETRY_TURN_INFO_EXCEPTION'; -exports[3042] = 'ER_BOOST_GEOMETRY_SELF_INTERSECTION_POINT_EXCEPTION'; -exports[3043] = 'ER_BOOST_GEOMETRY_UNKNOWN_EXCEPTION'; -exports[3044] = 'ER_STD_BAD_ALLOC_ERROR'; -exports[3045] = 'ER_STD_DOMAIN_ERROR'; -exports[3046] = 'ER_STD_LENGTH_ERROR'; -exports[3047] = 'ER_STD_INVALID_ARGUMENT'; -exports[3048] = 'ER_STD_OUT_OF_RANGE_ERROR'; -exports[3049] = 'ER_STD_OVERFLOW_ERROR'; -exports[3050] = 'ER_STD_RANGE_ERROR'; -exports[3051] = 'ER_STD_UNDERFLOW_ERROR'; -exports[3052] = 'ER_STD_LOGIC_ERROR'; -exports[3053] = 'ER_STD_RUNTIME_ERROR'; -exports[3054] = 'ER_STD_UNKNOWN_EXCEPTION'; -exports[3055] = 'ER_GIS_DATA_WRONG_ENDIANESS'; -exports[3056] = 'ER_CHANGE_MASTER_PASSWORD_LENGTH'; -exports[3057] = 'ER_USER_LOCK_WRONG_NAME'; -exports[3058] = 'ER_USER_LOCK_DEADLOCK'; -exports[3059] = 'ER_REPLACE_INACCESSIBLE_ROWS'; -exports[3060] = 'ER_ALTER_OPERATION_NOT_SUPPORTED_REASON_GIS'; -exports[3061] = 'ER_ILLEGAL_USER_VAR'; -exports[3062] = 'ER_GTID_MODE_OFF'; -exports[3063] = 'ER_UNSUPPORTED_BY_REPLICATION_THREAD'; -exports[3064] = 'ER_INCORRECT_TYPE'; -exports[3065] = 'ER_FIELD_IN_ORDER_NOT_SELECT'; -exports[3066] = 'ER_AGGREGATE_IN_ORDER_NOT_SELECT'; -exports[3067] = 'ER_INVALID_RPL_WILD_TABLE_FILTER_PATTERN'; -exports[3068] = 'ER_NET_OK_PACKET_TOO_LARGE'; -exports[3069] = 'ER_INVALID_JSON_DATA'; -exports[3070] = 'ER_INVALID_GEOJSON_MISSING_MEMBER'; -exports[3071] = 'ER_INVALID_GEOJSON_WRONG_TYPE'; -exports[3072] = 'ER_INVALID_GEOJSON_UNSPECIFIED'; -exports[3073] = 'ER_DIMENSION_UNSUPPORTED'; -exports[3074] = 'ER_SLAVE_CHANNEL_DOES_NOT_EXIST'; -exports[3075] = 'ER_SLAVE_MULTIPLE_CHANNELS_HOST_PORT'; -exports[3076] = 'ER_SLAVE_CHANNEL_NAME_INVALID_OR_TOO_LONG'; -exports[3077] = 'ER_SLAVE_NEW_CHANNEL_WRONG_REPOSITORY'; -exports[3078] = 'ER_SLAVE_CHANNEL_DELETE'; -exports[3079] = 'ER_SLAVE_MULTIPLE_CHANNELS_CMD'; -exports[3080] = 'ER_SLAVE_MAX_CHANNELS_EXCEEDED'; -exports[3081] = 'ER_SLAVE_CHANNEL_MUST_STOP'; -exports[3082] = 'ER_SLAVE_CHANNEL_NOT_RUNNING'; -exports[3083] = 'ER_SLAVE_CHANNEL_WAS_RUNNING'; -exports[3084] = 'ER_SLAVE_CHANNEL_WAS_NOT_RUNNING'; -exports[3085] = 'ER_SLAVE_CHANNEL_SQL_THREAD_MUST_STOP'; -exports[3086] = 'ER_SLAVE_CHANNEL_SQL_SKIP_COUNTER'; -exports[3087] = 'ER_WRONG_FIELD_WITH_GROUP_V2'; -exports[3088] = 'ER_MIX_OF_GROUP_FUNC_AND_FIELDS_V2'; -exports[3089] = 'ER_WARN_DEPRECATED_SYSVAR_UPDATE'; -exports[3090] = 'ER_WARN_DEPRECATED_SQLMODE'; -exports[3091] = 'ER_CANNOT_LOG_PARTIAL_DROP_DATABASE_WITH_GTID'; -exports[3092] = 'ER_GROUP_REPLICATION_CONFIGURATION'; -exports[3093] = 'ER_GROUP_REPLICATION_RUNNING'; -exports[3094] = 'ER_GROUP_REPLICATION_APPLIER_INIT_ERROR'; -exports[3095] = 'ER_GROUP_REPLICATION_STOP_APPLIER_THREAD_TIMEOUT'; -exports[3096] = 'ER_GROUP_REPLICATION_COMMUNICATION_LAYER_SESSION_ERROR'; -exports[3097] = 'ER_GROUP_REPLICATION_COMMUNICATION_LAYER_JOIN_ERROR'; -exports[3098] = 'ER_BEFORE_DML_VALIDATION_ERROR'; -exports[3099] = 'ER_PREVENTS_VARIABLE_WITHOUT_RBR'; -exports[3100] = 'ER_RUN_HOOK_ERROR'; -exports[3101] = 'ER_TRANSACTION_ROLLBACK_DURING_COMMIT'; -exports[3102] = 'ER_GENERATED_COLUMN_FUNCTION_IS_NOT_ALLOWED'; -exports[3103] = 'ER_UNSUPPORTED_ALTER_INPLACE_ON_VIRTUAL_COLUMN'; -exports[3104] = 'ER_WRONG_FK_OPTION_FOR_GENERATED_COLUMN'; -exports[3105] = 'ER_NON_DEFAULT_VALUE_FOR_GENERATED_COLUMN'; -exports[3106] = 'ER_UNSUPPORTED_ACTION_ON_GENERATED_COLUMN'; -exports[3107] = 'ER_GENERATED_COLUMN_NON_PRIOR'; -exports[3108] = 'ER_DEPENDENT_BY_GENERATED_COLUMN'; -exports[3109] = 'ER_GENERATED_COLUMN_REF_AUTO_INC'; -exports[3110] = 'ER_FEATURE_NOT_AVAILABLE'; -exports[3111] = 'ER_CANT_SET_GTID_MODE'; -exports[3112] = 'ER_CANT_USE_AUTO_POSITION_WITH_GTID_MODE_OFF'; -exports[3113] = 'ER_CANT_REPLICATE_ANONYMOUS_WITH_AUTO_POSITION'; -exports[3114] = 'ER_CANT_REPLICATE_ANONYMOUS_WITH_GTID_MODE_ON'; -exports[3115] = 'ER_CANT_REPLICATE_GTID_WITH_GTID_MODE_OFF'; -exports[3116] = 'ER_CANT_SET_ENFORCE_GTID_CONSISTENCY_ON_WITH_ONGOING_GTID_VIOLATING_TRANSACTIONS'; -exports[3117] = 'ER_SET_ENFORCE_GTID_CONSISTENCY_WARN_WITH_ONGOING_GTID_VIOLATING_TRANSACTIONS'; -exports[3118] = 'ER_ACCOUNT_HAS_BEEN_LOCKED'; -exports[3119] = 'ER_WRONG_TABLESPACE_NAME'; -exports[3120] = 'ER_TABLESPACE_IS_NOT_EMPTY'; -exports[3121] = 'ER_WRONG_FILE_NAME'; -exports[3122] = 'ER_BOOST_GEOMETRY_INCONSISTENT_TURNS_EXCEPTION'; -exports[3123] = 'ER_WARN_OPTIMIZER_HINT_SYNTAX_ERROR'; -exports[3124] = 'ER_WARN_BAD_MAX_EXECUTION_TIME'; -exports[3125] = 'ER_WARN_UNSUPPORTED_MAX_EXECUTION_TIME'; -exports[3126] = 'ER_WARN_CONFLICTING_HINT'; -exports[3127] = 'ER_WARN_UNKNOWN_QB_NAME'; -exports[3128] = 'ER_UNRESOLVED_HINT_NAME'; -exports[3129] = 'ER_WARN_ON_MODIFYING_GTID_EXECUTED_TABLE'; -exports[3130] = 'ER_PLUGGABLE_PROTOCOL_COMMAND_NOT_SUPPORTED'; -exports[3131] = 'ER_LOCKING_SERVICE_WRONG_NAME'; -exports[3132] = 'ER_LOCKING_SERVICE_DEADLOCK'; -exports[3133] = 'ER_LOCKING_SERVICE_TIMEOUT'; -exports[3134] = 'ER_GIS_MAX_POINTS_IN_GEOMETRY_OVERFLOWED'; -exports[3135] = 'ER_SQL_MODE_MERGED'; -exports[3136] = 'ER_VTOKEN_PLUGIN_TOKEN_MISMATCH'; -exports[3137] = 'ER_VTOKEN_PLUGIN_TOKEN_NOT_FOUND'; -exports[3138] = 'ER_CANT_SET_VARIABLE_WHEN_OWNING_GTID'; -exports[3139] = 'ER_SLAVE_CHANNEL_OPERATION_NOT_ALLOWED'; -exports[3140] = 'ER_INVALID_JSON_TEXT'; -exports[3141] = 'ER_INVALID_JSON_TEXT_IN_PARAM'; -exports[3142] = 'ER_INVALID_JSON_BINARY_DATA'; -exports[3143] = 'ER_INVALID_JSON_PATH'; -exports[3144] = 'ER_INVALID_JSON_CHARSET'; -exports[3145] = 'ER_INVALID_JSON_CHARSET_IN_FUNCTION'; -exports[3146] = 'ER_INVALID_TYPE_FOR_JSON'; -exports[3147] = 'ER_INVALID_CAST_TO_JSON'; -exports[3148] = 'ER_INVALID_JSON_PATH_CHARSET'; -exports[3149] = 'ER_INVALID_JSON_PATH_WILDCARD'; -exports[3150] = 'ER_JSON_VALUE_TOO_BIG'; -exports[3151] = 'ER_JSON_KEY_TOO_BIG'; -exports[3152] = 'ER_JSON_USED_AS_KEY'; -exports[3153] = 'ER_JSON_VACUOUS_PATH'; -exports[3154] = 'ER_JSON_BAD_ONE_OR_ALL_ARG'; -exports[3155] = 'ER_NUMERIC_JSON_VALUE_OUT_OF_RANGE'; -exports[3156] = 'ER_INVALID_JSON_VALUE_FOR_CAST'; -exports[3157] = 'ER_JSON_DOCUMENT_TOO_DEEP'; -exports[3158] = 'ER_JSON_DOCUMENT_NULL_KEY'; -exports[3159] = 'ER_SECURE_TRANSPORT_REQUIRED'; -exports[3160] = 'ER_NO_SECURE_TRANSPORTS_CONFIGURED'; -exports[3161] = 'ER_DISABLED_STORAGE_ENGINE'; -exports[3162] = 'ER_USER_DOES_NOT_EXIST'; -exports[3163] = 'ER_USER_ALREADY_EXISTS'; -exports[3164] = 'ER_AUDIT_API_ABORT'; -exports[3165] = 'ER_INVALID_JSON_PATH_ARRAY_CELL'; -exports[3166] = 'ER_BUFPOOL_RESIZE_INPROGRESS'; -exports[3167] = 'ER_FEATURE_DISABLED_SEE_DOC'; -exports[3168] = 'ER_SERVER_ISNT_AVAILABLE'; -exports[3169] = 'ER_SESSION_WAS_KILLED'; -exports[3170] = 'ER_CAPACITY_EXCEEDED'; -exports[3171] = 'ER_CAPACITY_EXCEEDED_IN_RANGE_OPTIMIZER'; -exports[3172] = 'ER_TABLE_NEEDS_UPG_PART'; -exports[3173] = 'ER_CANT_WAIT_FOR_EXECUTED_GTID_SET_WHILE_OWNING_A_GTID'; -exports[3174] = 'ER_CANNOT_ADD_FOREIGN_BASE_COL_VIRTUAL'; -exports[3175] = 'ER_CANNOT_CREATE_VIRTUAL_INDEX_CONSTRAINT'; -exports[3176] = 'ER_ERROR_ON_MODIFYING_GTID_EXECUTED_TABLE'; -exports[3177] = 'ER_LOCK_REFUSED_BY_ENGINE'; -exports[3178] = 'ER_UNSUPPORTED_ALTER_ONLINE_ON_VIRTUAL_COLUMN'; -exports[3179] = 'ER_MASTER_KEY_ROTATION_NOT_SUPPORTED_BY_SE'; -exports[3180] = 'ER_MASTER_KEY_ROTATION_ERROR_BY_SE'; -exports[3181] = 'ER_MASTER_KEY_ROTATION_BINLOG_FAILED'; -exports[3182] = 'ER_MASTER_KEY_ROTATION_SE_UNAVAILABLE'; -exports[3183] = 'ER_TABLESPACE_CANNOT_ENCRYPT'; -exports[3184] = 'ER_INVALID_ENCRYPTION_OPTION'; -exports[3185] = 'ER_CANNOT_FIND_KEY_IN_KEYRING'; -exports[3186] = 'ER_CAPACITY_EXCEEDED_IN_PARSER'; -exports[3187] = 'ER_UNSUPPORTED_ALTER_ENCRYPTION_INPLACE'; -exports[3188] = 'ER_KEYRING_UDF_KEYRING_SERVICE_ERROR'; -exports[3189] = 'ER_USER_COLUMN_OLD_LENGTH'; -exports[3190] = 'ER_CANT_RESET_MASTER'; -exports[3191] = 'ER_GROUP_REPLICATION_MAX_GROUP_SIZE'; -exports[3192] = 'ER_CANNOT_ADD_FOREIGN_BASE_COL_STORED'; -exports[3193] = 'ER_TABLE_REFERENCED'; -exports[3194] = 'ER_PARTITION_ENGINE_DEPRECATED_FOR_TABLE'; -exports[3195] = 'ER_WARN_USING_GEOMFROMWKB_TO_SET_SRID_ZERO'; -exports[3196] = 'ER_WARN_USING_GEOMFROMWKB_TO_SET_SRID'; -exports[3197] = 'ER_XA_RETRY'; -exports[3198] = 'ER_KEYRING_AWS_UDF_AWS_KMS_ERROR'; -exports[3199] = 'ER_BINLOG_UNSAFE_XA'; -exports[3200] = 'ER_UDF_ERROR'; -exports[3201] = 'ER_KEYRING_MIGRATION_FAILURE'; -exports[3202] = 'ER_KEYRING_ACCESS_DENIED_ERROR'; -exports[3203] = 'ER_KEYRING_MIGRATION_STATUS'; -exports[3204] = 'ER_PLUGIN_FAILED_TO_OPEN_TABLES'; -exports[3205] = 'ER_PLUGIN_FAILED_TO_OPEN_TABLE'; -exports[3206] = 'ER_AUDIT_LOG_NO_KEYRING_PLUGIN_INSTALLED'; -exports[3207] = 'ER_AUDIT_LOG_ENCRYPTION_PASSWORD_HAS_NOT_BEEN_SET'; -exports[3208] = 'ER_AUDIT_LOG_COULD_NOT_CREATE_AES_KEY'; -exports[3209] = 'ER_AUDIT_LOG_ENCRYPTION_PASSWORD_CANNOT_BE_FETCHED'; -exports[3210] = 'ER_AUDIT_LOG_JSON_FILTERING_NOT_ENABLED'; -exports[3211] = 'ER_AUDIT_LOG_UDF_INSUFFICIENT_PRIVILEGE'; -exports[3212] = 'ER_AUDIT_LOG_SUPER_PRIVILEGE_REQUIRED'; -exports[3213] = 'ER_COULD_NOT_REINITIALIZE_AUDIT_LOG_FILTERS'; -exports[3214] = 'ER_AUDIT_LOG_UDF_INVALID_ARGUMENT_TYPE'; -exports[3215] = 'ER_AUDIT_LOG_UDF_INVALID_ARGUMENT_COUNT'; -exports[3216] = 'ER_AUDIT_LOG_HAS_NOT_BEEN_INSTALLED'; -exports[3217] = 'ER_AUDIT_LOG_UDF_READ_INVALID_MAX_ARRAY_LENGTH_ARG_TYPE'; -exports[3218] = 'ER_AUDIT_LOG_UDF_READ_INVALID_MAX_ARRAY_LENGTH_ARG_VALUE'; -exports[3219] = 'ER_AUDIT_LOG_JSON_FILTER_PARSING_ERROR'; -exports[3220] = 'ER_AUDIT_LOG_JSON_FILTER_NAME_CANNOT_BE_EMPTY'; -exports[3221] = 'ER_AUDIT_LOG_JSON_USER_NAME_CANNOT_BE_EMPTY'; -exports[3222] = 'ER_AUDIT_LOG_JSON_FILTER_DOES_NOT_EXISTS'; -exports[3223] = 'ER_AUDIT_LOG_USER_FIRST_CHARACTER_MUST_BE_ALPHANUMERIC'; -exports[3224] = 'ER_AUDIT_LOG_USER_NAME_INVALID_CHARACTER'; -exports[3225] = 'ER_AUDIT_LOG_HOST_NAME_INVALID_CHARACTER'; -exports[3226] = 'WARN_DEPRECATED_MAXDB_SQL_MODE_FOR_TIMESTAMP'; -exports[3227] = 'ER_XA_REPLICATION_FILTERS'; -exports[3228] = 'ER_CANT_OPEN_ERROR_LOG'; -exports[3229] = 'ER_GROUPING_ON_TIMESTAMP_IN_DST'; -exports[3230] = 'ER_CANT_START_SERVER_NAMED_PIPE'; diff --git a/node_modules/mysql/lib/protocol/constants/field_flags.js b/node_modules/mysql/lib/protocol/constants/field_flags.js deleted file mode 100644 index c698da5..0000000 --- a/node_modules/mysql/lib/protocol/constants/field_flags.js +++ /dev/null @@ -1,18 +0,0 @@ -// Manually extracted from mysql-5.5.23/include/mysql_com.h -exports.NOT_NULL_FLAG = 1; /* Field can't be NULL */ -exports.PRI_KEY_FLAG = 2; /* Field is part of a primary key */ -exports.UNIQUE_KEY_FLAG = 4; /* Field is part of a unique key */ -exports.MULTIPLE_KEY_FLAG = 8; /* Field is part of a key */ -exports.BLOB_FLAG = 16; /* Field is a blob */ -exports.UNSIGNED_FLAG = 32; /* Field is unsigned */ -exports.ZEROFILL_FLAG = 64; /* Field is zerofill */ -exports.BINARY_FLAG = 128; /* Field is binary */ - -/* The following are only sent to new clients */ -exports.ENUM_FLAG = 256; /* field is an enum */ -exports.AUTO_INCREMENT_FLAG = 512; /* field is a autoincrement field */ -exports.TIMESTAMP_FLAG = 1024; /* Field is a timestamp */ -exports.SET_FLAG = 2048; /* field is a set */ -exports.NO_DEFAULT_VALUE_FLAG = 4096; /* Field doesn't have default value */ -exports.ON_UPDATE_NOW_FLAG = 8192; /* Field is set to NOW on UPDATE */ -exports.NUM_FLAG = 32768; /* Field is num (for clients) */ diff --git a/node_modules/mysql/lib/protocol/constants/server_status.js b/node_modules/mysql/lib/protocol/constants/server_status.js deleted file mode 100644 index 48880c3..0000000 --- a/node_modules/mysql/lib/protocol/constants/server_status.js +++ /dev/null @@ -1,39 +0,0 @@ -// Manually extracted from mysql-5.5.23/include/mysql_com.h - -/** - Is raised when a multi-statement transaction - has been started, either explicitly, by means - of BEGIN or COMMIT AND CHAIN, or - implicitly, by the first transactional - statement, when autocommit=off. -*/ -exports.SERVER_STATUS_IN_TRANS = 1; -exports.SERVER_STATUS_AUTOCOMMIT = 2; /* Server in auto_commit mode */ -exports.SERVER_MORE_RESULTS_EXISTS = 8; /* Multi query - next query exists */ -exports.SERVER_QUERY_NO_GOOD_INDEX_USED = 16; -exports.SERVER_QUERY_NO_INDEX_USED = 32; -/** - The server was able to fulfill the clients request and opened a - read-only non-scrollable cursor for a query. This flag comes - in reply to COM_STMT_EXECUTE and COM_STMT_FETCH commands. -*/ -exports.SERVER_STATUS_CURSOR_EXISTS = 64; -/** - This flag is sent when a read-only cursor is exhausted, in reply to - COM_STMT_FETCH command. -*/ -exports.SERVER_STATUS_LAST_ROW_SENT = 128; -exports.SERVER_STATUS_DB_DROPPED = 256; /* A database was dropped */ -exports.SERVER_STATUS_NO_BACKSLASH_ESCAPES = 512; -/** - Sent to the client if after a prepared statement reprepare - we discovered that the new statement returns a different - number of result set columns. -*/ -exports.SERVER_STATUS_METADATA_CHANGED = 1024; -exports.SERVER_QUERY_WAS_SLOW = 2048; - -/** - To mark ResultSet containing output parameter values. -*/ -exports.SERVER_PS_OUT_PARAMS = 4096; diff --git a/node_modules/mysql/lib/protocol/constants/ssl_profiles.js b/node_modules/mysql/lib/protocol/constants/ssl_profiles.js deleted file mode 100644 index bec1864..0000000 --- a/node_modules/mysql/lib/protocol/constants/ssl_profiles.js +++ /dev/null @@ -1,1480 +0,0 @@ -// Certificates for Amazon RDS -exports['Amazon RDS'] = { - ca: [ - /** - * Amazon RDS global certificate 2010 to 2015 - * - * CN = aws.amazon.com/rds/ - * OU = RDS - * O = Amazon.com - * L = Seattle - * ST = Washington - * C = US - * P = 2010-04-05T22:44:31Z/2015-04-04T22:41:31Z - * F = 7F:09:8D:A5:7D:BB:A6:EF:7C:70:D8:CA:4E:49:11:55:7E:89:A7:D3 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIDQzCCAqygAwIBAgIJAOd1tlfiGoEoMA0GCSqGSIb3DQEBBQUAMHUxCzAJBgNV\n' - + 'BAYTAlVTMRMwEQYDVQQIEwpXYXNoaW5ndG9uMRAwDgYDVQQHEwdTZWF0dGxlMRMw\n' - + 'EQYDVQQKEwpBbWF6b24uY29tMQwwCgYDVQQLEwNSRFMxHDAaBgNVBAMTE2F3cy5h\n' - + 'bWF6b24uY29tL3Jkcy8wHhcNMTAwNDA1MjI0NDMxWhcNMTUwNDA0MjI0NDMxWjB1\n' - + 'MQswCQYDVQQGEwJVUzETMBEGA1UECBMKV2FzaGluZ3RvbjEQMA4GA1UEBxMHU2Vh\n' - + 'dHRsZTETMBEGA1UEChMKQW1hem9uLmNvbTEMMAoGA1UECxMDUkRTMRwwGgYDVQQD\n' - + 'ExNhd3MuYW1hem9uLmNvbS9yZHMvMIGfMA0GCSqGSIb3DQEBAQUAA4GNADCBiQKB\n' - + 'gQDKhXGU7tizxUR5WaFoMTFcxNxa05PEjZaIOEN5ctkWrqYSRov0/nOMoZjqk8bC\n' - + 'med9vPFoQGD0OTakPs0jVe3wwmR735hyVwmKIPPsGlaBYj1O6llIpZeQVyupNx56\n' - + 'UzqtiLaDzh1KcmfqP3qP2dInzBfJQKjiRudo1FWnpPt33QIDAQABo4HaMIHXMB0G\n' - + 'A1UdDgQWBBT/H3x+cqSkR/ePSIinPtc4yWKe3DCBpwYDVR0jBIGfMIGcgBT/H3x+\n' - + 'cqSkR/ePSIinPtc4yWKe3KF5pHcwdTELMAkGA1UEBhMCVVMxEzARBgNVBAgTCldh\n' - + 'c2hpbmd0b24xEDAOBgNVBAcTB1NlYXR0bGUxEzARBgNVBAoTCkFtYXpvbi5jb20x\n' - + 'DDAKBgNVBAsTA1JEUzEcMBoGA1UEAxMTYXdzLmFtYXpvbi5jb20vcmRzL4IJAOd1\n' - + 'tlfiGoEoMAwGA1UdEwQFMAMBAf8wDQYJKoZIhvcNAQEFBQADgYEAvguZy/BDT66x\n' - + 'GfgnJlyQwnFSeVLQm9u/FIvz4huGjbq9dqnD6h/Gm56QPFdyMEyDiZWaqY6V08lY\n' - + 'LTBNb4kcIc9/6pc0/ojKciP5QJRm6OiZ4vgG05nF4fYjhU7WClUx7cxq1fKjNc2J\n' - + 'UCmmYqgiVkAGWRETVo+byOSDZ4swb10=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS global root CA 2015 to 2020 - * - * CN = Amazon RDS Root CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T09:11:31Z/2020-03-05T09:11:31Z - * F = E8:11:88:56:E7:A7:CE:3E:5E:DC:9A:31:25:1B:93:AC:DC:43:CE:B0 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID9DCCAtygAwIBAgIBQjANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUwOTExMzFaFw0y\n' - + 'MDAzMDUwOTExMzFaMIGKMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEbMBkGA1UEAwwSQW1hem9uIFJE\n' - + 'UyBSb290IENBMIIBIjANBgkqhkiG9w0BAQEFAAOCAQ8AMIIBCgKCAQEAuD8nrZ8V\n' - + 'u+VA8yVlUipCZIKPTDcOILYpUe8Tct0YeQQr0uyl018StdBsa3CjBgvwpDRq1HgF\n' - + 'Ji2N3+39+shCNspQeE6aYU+BHXhKhIIStt3r7gl/4NqYiDDMWKHxHq0nsGDFfArf\n' - + 'AOcjZdJagOMqb3fF46flc8k2E7THTm9Sz4L7RY1WdABMuurpICLFE3oHcGdapOb9\n' - + 'T53pQR+xpHW9atkcf3pf7gbO0rlKVSIoUenBlZipUlp1VZl/OD/E+TtRhDDNdI2J\n' - + 'P/DSMM3aEsq6ZQkfbz/Ilml+Lx3tJYXUDmp+ZjzMPLk/+3beT8EhrwtcG3VPpvwp\n' - + 'BIOqsqVVTvw/CwIDAQABo2MwYTAOBgNVHQ8BAf8EBAMCAQYwDwYDVR0TAQH/BAUw\n' - + 'AwEB/zAdBgNVHQ4EFgQUTgLurD72FchM7Sz1BcGPnIQISYMwHwYDVR0jBBgwFoAU\n' - + 'TgLurD72FchM7Sz1BcGPnIQISYMwDQYJKoZIhvcNAQEFBQADggEBAHZcgIio8pAm\n' - + 'MjHD5cl6wKjXxScXKtXygWH2BoDMYBJF9yfyKO2jEFxYKbHePpnXB1R04zJSWAw5\n' - + '2EUuDI1pSBh9BA82/5PkuNlNeSTB3dXDD2PEPdzVWbSKvUB8ZdooV+2vngL0Zm4r\n' - + '47QPyd18yPHrRIbtBtHR/6CwKevLZ394zgExqhnekYKIqqEX41xsUV0Gm6x4vpjf\n' - + '2u6O/+YE2U+qyyxHE5Wd5oqde0oo9UUpFETJPVb6Q2cEeQib8PBAyi0i6KnF+kIV\n' - + 'A9dY7IHSubtCK/i8wxMVqfd5GtbA8mmpeJFwnDvm9rBEsHybl08qlax9syEwsUYr\n' - + '/40NawZfTUU=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS global root CA 2019 to 2024 - * - * CN = Amazon RDS Root 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-08-22T17:08:50Z/2024-08-22T17:08:50Z - * F = D4:0D:DB:29:E3:75:0D:FF:A6:71:C3:14:0B:BF:5F:47:8D:1C:80:96 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBjCCAu6gAwIBAgIJAMc0ZzaSUK51MA0GCSqGSIb3DQEBCwUAMIGPMQswCQYD\n' - + 'VQQGEwJVUzEQMA4GA1UEBwwHU2VhdHRsZTETMBEGA1UECAwKV2FzaGluZ3RvbjEi\n' - + 'MCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1h\n' - + 'em9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJEUyBSb290IDIwMTkgQ0EwHhcNMTkw\n' - + 'ODIyMTcwODUwWhcNMjQwODIyMTcwODUwWjCBjzELMAkGA1UEBhMCVVMxEDAOBgNV\n' - + 'BAcMB1NlYXR0bGUxEzARBgNVBAgMCldhc2hpbmd0b24xIjAgBgNVBAoMGUFtYXpv\n' - + 'biBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMxIDAeBgNV\n' - + 'BAMMF0FtYXpvbiBSRFMgUm9vdCAyMDE5IENBMIIBIjANBgkqhkiG9w0BAQEFAAOC\n' - + 'AQ8AMIIBCgKCAQEArXnF/E6/Qh+ku3hQTSKPMhQQlCpoWvnIthzX6MK3p5a0eXKZ\n' - + 'oWIjYcNNG6UwJjp4fUXl6glp53Jobn+tWNX88dNH2n8DVbppSwScVE2LpuL+94vY\n' - + '0EYE/XxN7svKea8YvlrqkUBKyxLxTjh+U/KrGOaHxz9v0l6ZNlDbuaZw3qIWdD/I\n' - + '6aNbGeRUVtpM6P+bWIoxVl/caQylQS6CEYUk+CpVyJSkopwJlzXT07tMoDL5WgX9\n' - + 'O08KVgDNz9qP/IGtAcRduRcNioH3E9v981QO1zt/Gpb2f8NqAjUUCUZzOnij6mx9\n' - + 'McZ+9cWX88CRzR0vQODWuZscgI08NvM69Fn2SQIDAQABo2MwYTAOBgNVHQ8BAf8E\n' - + 'BAMCAQYwDwYDVR0TAQH/BAUwAwEB/zAdBgNVHQ4EFgQUc19g2LzLA5j0Kxc0LjZa\n' - + 'pmD/vB8wHwYDVR0jBBgwFoAUc19g2LzLA5j0Kxc0LjZapmD/vB8wDQYJKoZIhvcN\n' - + 'AQELBQADggEBAHAG7WTmyjzPRIM85rVj+fWHsLIvqpw6DObIjMWokpliCeMINZFV\n' - + 'ynfgBKsf1ExwbvJNzYFXW6dihnguDG9VMPpi2up/ctQTN8tm9nDKOy08uNZoofMc\n' - + 'NUZxKCEkVKZv+IL4oHoeayt8egtv3ujJM6V14AstMQ6SwvwvA93EP/Ug2e4WAXHu\n' - + 'cbI1NAbUgVDqp+DRdfvZkgYKryjTWd/0+1fS8X1bBZVWzl7eirNVnHbSH2ZDpNuY\n' - + '0SBd8dj5F6ld3t58ydZbrTHze7JJOd8ijySAp4/kiu9UfZWuTPABzDa/DSdz9Dk/\n' - + 'zPW4CXXvhLmE02TA9/HeCw3KEHIwicNuEfw=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-northeast-1 certificate CA 2015 to 2020 - * - * CN = Amazon RDS ap-northeast-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:06Z/2020-03-05T22:03:06Z - * F = 4B:2D:8A:E0:C1:A3:A9:AF:A7:BB:65:0C:5A:16:8A:39:3C:03:F2:C5 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEATCCAumgAwIBAgIBRDANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzMDZaFw0y\n' - + 'MDAzMDUyMjAzMDZaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1hem9uIFJE\n' - + 'UyBhcC1ub3J0aGVhc3QtMSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEPADCCAQoC\n' - + 'ggEBAMmM2B4PfTXCZjbZMWiDPyxvk/eeNwIRJAhfzesiGUiLozX6CRy3rwC1ZOPV\n' - + 'AcQf0LB+O8wY88C/cV+d4Q2nBDmnk+Vx7o2MyMh343r5rR3Na+4izd89tkQVt0WW\n' - + 'vO21KRH5i8EuBjinboOwAwu6IJ+HyiQiM0VjgjrmEr/YzFPL8MgHD/YUHehqjACn\n' - + 'C0+B7/gu7W4qJzBL2DOf7ub2qszGtwPE+qQzkCRDwE1A4AJmVE++/FLH2Zx78Egg\n' - + 'fV1sUxPtYgjGH76VyyO6GNKM6rAUMD/q5mnPASQVIXgKbupr618bnH+SWHFjBqZq\n' - + 'HvDGPMtiiWII41EmGUypyt5AbysCAwEAAaNmMGQwDgYDVR0PAQH/BAQDAgEGMBIG\n' - + 'A1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFIiKM0Q6n1K4EmLxs3ZXxINbwEwR\n' - + 'MB8GA1UdIwQYMBaAFE4C7qw+9hXITO0s9QXBj5yECEmDMA0GCSqGSIb3DQEBBQUA\n' - + 'A4IBAQBezGbE9Rw/k2e25iGjj5n8r+M3dlye8ORfCE/dijHtxqAKasXHgKX8I9Tw\n' - + 'JkBiGWiuzqn7gO5MJ0nMMro1+gq29qjZnYX1pDHPgsRjUX8R+juRhgJ3JSHijRbf\n' - + '4qNJrnwga7pj94MhcLq9u0f6dxH6dXbyMv21T4TZMTmcFduf1KgaiVx1PEyJjC6r\n' - + 'M+Ru+A0eM+jJ7uCjUoZKcpX8xkj4nmSnz9NMPog3wdOSB9cAW7XIc5mHa656wr7I\n' - + 'WJxVcYNHTXIjCcng2zMKd1aCcl2KSFfy56sRfT7J5Wp69QSr+jq8KM55gw8uqAwi\n' - + 'VPrXn2899T1rcTtFYFP16WXjGuc0\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-northeast-2 certificate CA 2015 to 2020 - * - * CN = Amazon RDS ap-northeast-2 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-11-06T00:05:46Z/2020-03-05T00:05:46Z - * F = 77:D9:33:4E:CE:56:FC:42:7B:29:57:8D:67:59:ED:29:4E:18:CB:6B - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEATCCAumgAwIBAgIBTDANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTExMDYwMDA1NDZaFw0y\n' - + 'MDAzMDUwMDA1NDZaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1hem9uIFJE\n' - + 'UyBhcC1ub3J0aGVhc3QtMiBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEPADCCAQoC\n' - + 'ggEBAKSwd+RVUzTRH0FgnbwoTK8TMm/zMT4+2BvALpAUe6YXbkisg2goycWuuWLg\n' - + 'jOpFBB3GtyvXZnkqi7MkDWUmj1a2kf8l2oLyoaZ+Hm9x/sV+IJzOqPvj1XVUGjP6\n' - + 'yYYnPJmUYqvZeI7fEkIGdFkP2m4/sgsSGsFvpD9FK1bL1Kx2UDpYX0kHTtr18Zm/\n' - + '1oN6irqWALSmXMDydb8hE0FB2A1VFyeKE6PnoDj/Y5cPHwPPdEi6/3gkDkSaOG30\n' - + 'rWeQfL3pOcKqzbHaWTxMphd0DSL/quZ64Nr+Ly65Q5PRcTrtr55ekOUziuqXwk+o\n' - + '9QpACMwcJ7ROqOznZTqTzSFVXFECAwEAAaNmMGQwDgYDVR0PAQH/BAQDAgEGMBIG\n' - + 'A1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFM6Nox/QWbhzWVvzoJ/y0kGpNPK+\n' - + 'MB8GA1UdIwQYMBaAFE4C7qw+9hXITO0s9QXBj5yECEmDMA0GCSqGSIb3DQEBBQUA\n' - + 'A4IBAQCTkWBqNvyRf3Y/W21DwFx3oT/AIWrHt0BdGZO34tavummXemTH9LZ/mqv9\n' - + 'aljt6ZuDtf5DEQjdsAwXMsyo03ffnP7doWm8iaF1+Mui77ot0TmTsP/deyGwukvJ\n' - + 'tkxX8bZjDh+EaNauWKr+CYnniNxCQLfFtXYJsfOdVBzK3xNL+Z3ucOQRhr2helWc\n' - + 'CDQgwfhP1+3pRVKqHvWCPC4R3fT7RZHuRmZ38kndv476GxRntejh+ePffif78bFI\n' - + '3rIZCPBGobrrUMycafSbyXteoGca/kA+/IqrAPlk0pWQ4aEL0yTWN2h2dnjoD7oX\n' - + 'byIuL/g9AGRh97+ssn7D6bDRPTbW\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-southeast-1 certificate CA 2015 to 2020 - * - * CN = Amazon RDS ap-southeast-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:19Z/2020-03-05T22:03:19Z - * F = 0E:EC:5D:BD:F9:80:EE:A9:A0:8D:81:AC:37:D9:8D:34:1C:CD:27:D1 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEATCCAumgAwIBAgIBRTANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzMTlaFw0y\n' - + 'MDAzMDUyMjAzMTlaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1hem9uIFJE\n' - + 'UyBhcC1zb3V0aGVhc3QtMSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEPADCCAQoC\n' - + 'ggEBANaXElmSEYt/UtxHFsARFhSUahTf1KNJzR0Dmay6hqOXQuRVbKRwPd19u5vx\n' - + 'DdF1sLT7D69IK3VDnUiQScaCv2Dpu9foZt+rLx+cpx1qiQd1UHrvqq8xPzQOqCdC\n' - + 'RFStq6yVYZ69yfpfoI67AjclMOjl2Vph3ftVnqP0IgVKZdzeC7fd+umGgR9xY0Qr\n' - + 'Ubhd/lWdsbNvzK3f1TPWcfIKQnpvSt85PIEDJir6/nuJUKMtmJRwTymJf0i+JZ4x\n' - + '7dJa341p2kHKcHMgOPW7nJQklGBA70ytjUV6/qebS3yIugr/28mwReflg3TJzVDl\n' - + 'EOvi6pqbqNbkMuEwGDCmEQIVqgkCAwEAAaNmMGQwDgYDVR0PAQH/BAQDAgEGMBIG\n' - + 'A1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFAu93/4k5xbWOsgdCdn+/KdiRuit\n' - + 'MB8GA1UdIwQYMBaAFE4C7qw+9hXITO0s9QXBj5yECEmDMA0GCSqGSIb3DQEBBQUA\n' - + 'A4IBAQBlcjSyscpPjf5+MgzMuAsCxByqUt+WFspwcMCpwdaBeHOPSQrXNqX2Sk6P\n' - + 'kth6oCivA64trWo8tFMvPYlUA1FYVD5WpN0kCK+P5pD4KHlaDsXhuhClJzp/OP8t\n' - + 'pOyUr5109RHLxqoKB5J5m1XA7rgcFjnMxwBSWFe3/4uMk/+4T53YfCVXuc6QV3i7\n' - + 'I/2LAJwFf//pTtt6fZenYfCsahnr2nvrNRNyAxcfvGZ/4Opn/mJtR6R/AjvQZHiR\n' - + 'bkRNKF2GW0ueK5W4FkZVZVhhX9xh1Aj2Ollb+lbOqADaVj+AT3PoJPZ3MPQHKCXm\n' - + 'xwG0LOLlRr/TfD6li1AfOVTAJXv9\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-southeast-2 certificate CA 2015 to 2020 - * - * CN = Amazon RDS ap-southeast-2 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:24Z/2020-03-05T22:03:24Z - * F = 20:D9:A8:82:23:AB:B9:E5:C5:24:10:D3:4D:0F:3D:B1:31:DF:E5:14 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEATCCAumgAwIBAgIBRjANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzMjRaFw0y\n' - + 'MDAzMDUyMjAzMjRaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1hem9uIFJE\n' - + 'UyBhcC1zb3V0aGVhc3QtMiBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEPADCCAQoC\n' - + 'ggEBAJqBAJutz69hFOh3BtLHZTbwE8eejGGKayn9hu98YMDPzWzGXWCmW+ZYWELA\n' - + 'cY3cNWNF8K4FqKXFr2ssorBYim1UtYFX8yhydT2hMD5zgQ2sCGUpuidijuPA6zaq\n' - + 'Z3tdhVR94f0q8mpwpv2zqR9PcqaGDx2VR1x773FupRPRo7mEW1vC3IptHCQlP/zE\n' - + '7jQiLl28bDIH2567xg7e7E9WnZToRnhlYdTaDaJsHTzi5mwILi4cihSok7Shv/ME\n' - + 'hnukvxeSPUpaVtFaBhfBqq055ePq9I+Ns4KGreTKMhU0O9fkkaBaBmPaFgmeX/XO\n' - + 'n2AX7gMouo3mtv34iDTZ0h6YCGkCAwEAAaNmMGQwDgYDVR0PAQH/BAQDAgEGMBIG\n' - + 'A1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFIlQnY0KHYWn1jYumSdJYfwj/Nfw\n' - + 'MB8GA1UdIwQYMBaAFE4C7qw+9hXITO0s9QXBj5yECEmDMA0GCSqGSIb3DQEBBQUA\n' - + 'A4IBAQA0wVU6/l41cTzHc4azc4CDYY2Wd90DFWiH9C/mw0SgToYfCJ/5Cfi0NT/Y\n' - + 'PRnk3GchychCJgoPA/k9d0//IhYEAIiIDjyFVgjbTkKV3sh4RbdldKVOUB9kumz/\n' - + 'ZpShplsGt3z4QQiVnKfrAgqxWDjR0I0pQKkxXa6Sjkicos9LQxVtJ0XA4ieG1E7z\n' - + 'zJr+6t80wmzxvkInSaWP3xNJK9azVRTrgQZQlvkbpDbExl4mNTG66VD3bAp6t3Wa\n' - + 'B49//uDdfZmPkqqbX+hsxp160OH0rxJppwO3Bh869PkDnaPEd/Pxw7PawC+li0gi\n' - + 'NRV8iCEx85aFxcyOhqn0WZOasxee\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-central-1 certificate CA 2015 to 2020 - * - * CN = Amazon RDS eu-central-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:31Z/2020-03-05T22:03:31Z - * F = 94:B4:DF:B9:6D:7E:F7:C3:B7:BF:51:E9:A6:B7:44:A0:D0:82:11:84 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/zCCAuegAwIBAgIBRzANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzMzFaFw0y\n' - + 'MDAzMDUyMjAzMzFaMIGSMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEjMCEGA1UEAwwaQW1hem9uIFJE\n' - + 'UyBldS1jZW50cmFsLTEgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIB\n' - + 'AQDFtP2dhSLuaPOI4ZrrPWsK4OY9ocQBp3yApH1KJYmI9wpQKZG/KCH2E6Oo7JAw\n' - + 'QORU519r033T+FO2Z7pFPlmz1yrxGXyHpJs8ySx3Yo5S8ncDCdZJCLmtPiq/hahg\n' - + '5/0ffexMFUCQaYicFZsrJ/cStdxUV+tSw2JQLD7UxS9J97LQWUPyyG+ZrjYVTVq+\n' - + 'zudnFmNSe4QoecXMhAFTGJFQXxP7nhSL9Ao5FGgdXy7/JWeWdQIAj8ku6cBDKPa6\n' - + 'Y6kP+ak+In+Lye8z9qsCD/afUozfWjPR2aA4JoIZVF8dNRShIMo8l0XfgfM2q0+n\n' - + 'ApZWZ+BjhIO5XuoUgHS3D2YFAgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNV\n' - + 'HRMBAf8ECDAGAQH/AgEAMB0GA1UdDgQWBBRm4GsWIA/M6q+tK8WGHWDGh2gcyTAf\n' - + 'BgNVHSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQUFAAOC\n' - + 'AQEAHpMmeVQNqcxgfQdbDIi5UIy+E7zZykmtAygN1XQrvga9nXTis4kOTN6g5/+g\n' - + 'HCx7jIXeNJzAbvg8XFqBN84Quqgpl/tQkbpco9Jh1HDs558D5NnZQxNqH5qXQ3Mm\n' - + 'uPgCw0pYcPOa7bhs07i+MdVwPBsX27CFDtsgAIru8HvKxY1oTZrWnyIRo93tt/pk\n' - + 'WuItVMVHjaQZVfTCow0aDUbte6Vlw82KjUFq+n2NMSCJDiDKsDDHT6BJc4AJHIq3\n' - + '/4Z52MSC9KMr0yAaaoWfW/yMEj9LliQauAgwVjArF4q78rxpfKTG9Rfd8U1BZANP\n' - + '7FrFMN0ThjfA1IvmOYcgskY5bQ==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-west-1 certificate CA 2015 to 2020 - * - * CN = Amazon RDS eu-west-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:35Z/2020-03-05T22:03:35Z - * F = 1A:95:F0:43:82:D2:5D:A6:AD:F5:13:27:0B:40:8A:72:D9:92:F3:E0 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBSDANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzMzVaFw0y\n' - + 'MDAzMDUyMjAzMzVaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyBldS13ZXN0LTEgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQCx\n' - + 'PdbqQ0HKRj79Pmocxvjc+P6i4Ux24kgFIl+ckiir1vzkmesc3a58gjrMlCksEObt\n' - + 'Yihs5IhzEq1ePT0gbfS9GYFp34Uj/MtPwlrfCBWG4d2TcrsKRHr1/EXUYhWqmdrb\n' - + 'RhX8XqoRhVkbF/auzFSBhTzcGGvZpQ2KIaxRcQfcXlMVhj/pxxAjh8U4F350Fb0h\n' - + 'nX1jw4/KvEreBL0Xb2lnlGTkwVxaKGSgXEnOgIyOFdOQc61vdome0+eeZsP4jqeR\n' - + 'TGYJA9izJsRbe2YJxHuazD+548hsPlM3vFzKKEVURCha466rAaYAHy3rKur3HYQx\n' - + 'Yt+SoKcEz9PXuSGj96ejAgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBTebg//h2oeXbZjQ4uuoiuLYzuiPDAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQUFAAOCAQEA\n' - + 'TikPaGeZasTPw+4RBemlsyPAjtFFQLo7ddaFdORLgdEysVf8aBqndvbA6MT/v4lj\n' - + 'GtEtUdF59ZcbWOrVm+fBZ2h/jYJ59dYF/xzb09nyRbdMSzB9+mkSsnOMqluq5y8o\n' - + 'DY/PfP2vGhEg/2ZncRC7nlQU1Dm8F4lFWEiQ2fi7O1cW852Vmbq61RIfcYsH/9Ma\n' - + 'kpgk10VZ75b8m3UhmpZ/2uRY+JEHImH5WpcTJ7wNiPNJsciZMznGtrgOnPzYco8L\n' - + 'cDleOASIZifNMQi9PKOJKvi0ITz0B/imr8KBsW0YjZVJ54HMa7W1lwugSM7aMAs+\n' - + 'E3Sd5lS+SHwWaOCHwhOEVA==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS sa-east-1 certificate CA 2015 to 2020 - * - * CN = Amazon RDS sa-east-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:40Z/2020-03-05T22:03:40Z - * F = 32:10:3D:FA:6D:42:F5:35:98:40:15:F4:4C:74:74:27:CB:CE:D4:B5 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBSTANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzNDBaFw0y\n' - + 'MDAzMDUyMjAzNDBaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyBzYS1lYXN0LTEgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQCU\n' - + 'X4OBnQ5xA6TLJAiFEI6l7bUWjoVJBa/VbMdCCSs2i2dOKmqUaXu2ix2zcPILj3lZ\n' - + 'GMk3d/2zvTK/cKhcFrewHUBamTeVHdEmynhMQamqNmkM4ptYzFcvEUw1TGxHT4pV\n' - + 'Q6gSN7+/AJewQvyHexHo8D0+LDN0/Wa9mRm4ixCYH2CyYYJNKaZt9+EZfNu+PPS4\n' - + '8iB0TWH0DgQkbWMBfCRgolLLitAZklZ4dvdlEBS7evN1/7ttBxUK6SvkeeSx3zBl\n' - + 'ww3BlXqc3bvTQL0A+RRysaVyFbvtp9domFaDKZCpMmDFAN/ntx215xmQdrSt+K3F\n' - + 'cXdGQYHx5q410CAclGnbAgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBT6iVWnm/uakS+tEX2mzIfw+8JL0zAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQUFAAOCAQEA\n' - + 'FmDD+QuDklXn2EgShwQxV13+txPRuVdOSrutHhoCgMwFWCMtPPtBAKs6KPY7Guvw\n' - + 'DpJoZSehDiOfsgMirjOWjvfkeWSNvKfjWTVneX7pZD9W5WPnsDBvTbCGezm+v87z\n' - + 'b+ZM2ZMo98m/wkMcIEAgdSKilR2fuw8rLkAjhYFfs0A7tDgZ9noKwgHvoE4dsrI0\n' - + 'KZYco6DlP/brASfHTPa2puBLN9McK3v+h0JaSqqm5Ro2Bh56tZkQh8AWy/miuDuK\n' - + '3+hNEVdxosxlkM1TPa1DGj0EzzK0yoeerXuH2HX7LlCrrxf6/wdKnjR12PMrLQ4A\n' - + 'pCqkcWw894z6bV9MAvKe6A==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-east-1 certificate CA 2015 to 2020 - * - * CN = Amazon RDS us-east-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T21:54:04Z/2020-03-05T21:54:04Z - * F = 34:47:8A:90:8A:83:AE:45:DC:B6:16:76:D2:35:EC:E9:75:C6:2C:63 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBQzANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMTU0MDRaFw0y\n' - + 'MDAzMDUyMTU0MDRaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyB1cy1lYXN0LTEgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQDI\n' - + 'UIuwh8NusKHk1SqPXcP7OqxY3S/M2ZyQWD3w7Bfihpyyy/fc1w0/suIpX3kbMhAV\n' - + '2ESwged2/2zSx4pVnjp/493r4luhSqQYzru78TuPt9bhJIJ51WXunZW2SWkisSaf\n' - + 'USYUzVN9ezR/bjXTumSUQaLIouJt3OHLX49s+3NAbUyOI8EdvgBQWD68H1epsC0n\n' - + 'CI5s+pIktyOZ59c4DCDLQcXErQ+tNbDC++oct1ANd/q8p9URonYwGCGOBy7sbCYq\n' - + '9eVHh1Iy2M+SNXddVOGw5EuruvHoCIQyOz5Lz4zSuZA9dRbrfztNOpezCNYu6NKM\n' - + 'n+hzcvdiyxv77uNm8EaxAgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBQSQG3TmMe6Sa3KufaPBa72v4QFDzAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQUFAAOCAQEA\n' - + 'L/mOZfB3187xTmjOHMqN2G2oSKHBKiQLM9uv8+97qT+XR+TVsBT6b3yoPpMAGhHA\n' - + 'Pc7nxAF5gPpuzatx0OTLPcmYucFmfqT/1qA5WlgCnMNtczyNMH97lKFTNV7Njtek\n' - + 'jWEzAEQSyEWrkNpNlC4j6kMYyPzVXQeXUeZTgJ9FNnVZqmvfjip2N22tawMjrCn5\n' - + '7KN/zN65EwY2oO9XsaTwwWmBu3NrDdMbzJnbxoWcFWj4RBwanR1XjQOVNhDwmCOl\n' - + '/1Et13b8CPyj69PC8BOVU6cfTSx8WUVy0qvYOKHNY9Bqa5BDnIL3IVmUkeTlM1mt\n' - + 'enRpyBj+Bk9rh/ICdiRKmA==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-west-1 certificate CA 2015 to 2020 - * - * CN = Amazon RDS us-west-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:45Z/2020-03-05T22:03:45Z - * F = EF:94:2F:E3:58:0E:09:D6:79:C2:16:97:91:FB:37:EA:D7:70:A8:4B - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBSjANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzNDVaFw0y\n' - + 'MDAzMDUyMjAzNDVaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyB1cy13ZXN0LTEgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQDE\n' - + 'Dhw+uw/ycaiIhhyu2pXFRimq0DlB8cNtIe8hdqndH8TV/TFrljNgR8QdzOgZtZ9C\n' - + 'zzQ2GRpInN/qJF6slEd6wO+6TaDBQkPY+07TXNt52POFUhdVkhJXHpE2BS7Xn6J7\n' - + '7RFAOeG1IZmc2DDt+sR1BgXzUqHslQGfFYNS0/MBO4P+ya6W7IhruB1qfa4HiYQS\n' - + 'dbe4MvGWnv0UzwAqdR7OF8+8/5c58YXZIXCO9riYF2ql6KNSL5cyDPcYK5VK0+Q9\n' - + 'VI6vuJHSMYcF7wLePw8jtBktqAFE/wbdZiIHhZvNyiNWPPNTGUmQbaJ+TzQEHDs5\n' - + '8en+/W7JKnPyBOkxxENbAgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBS0nw/tFR9bCjgqWTPJkyy4oOD8bzAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQUFAAOCAQEA\n' - + 'CXGAY3feAak6lHdqj6+YWjy6yyUnLK37bRxZDsyDVXrPRQaXRzPTzx79jvDwEb/H\n' - + 'Q/bdQ7zQRWqJcbivQlwhuPJ4kWPUZgSt3JUUuqkMsDzsvj/bwIjlrEFDOdHGh0mi\n' - + 'eVIngFEjUXjMh+5aHPEF9BlQnB8LfVtKj18e15UDTXFa+xJPFxUR7wDzCfo4WI1m\n' - + 'sUMG4q1FkGAZgsoyFPZfF8IVvgCuGdR8z30VWKklFxttlK0eGLlPAyIO0CQxPQlo\n' - + 'saNJrHf4tLOgZIWk+LpDhNd9Et5EzvJ3aURUsKY4pISPPF5WdvM9OE59bERwUErd\n' - + 'nuOuQWQeeadMceZnauRzJQ==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-west-2 certificate CA 2015 to 2020 - * - * CN = Amazon RDS us-west-2 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2015-02-05T22:03:50Z/2020-03-05T22:03:50Z - * F = 94:2C:A8:B0:23:48:17:F0:CD:2F:19:7F:C1:E0:21:7C:65:79:13:3A - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBSzANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNTAyMDUyMjAzNTBaFw0y\n' - + 'MDAzMDUyMjAzNTBaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyB1cy13ZXN0LTIgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQDM\n' - + 'H58SR48U6jyERC1vYTnub34smf5EQVXyzaTmspWGWGzT31NLNZGSDFaa7yef9kdO\n' - + 'mzJsgebR5tXq6LdwlIoWkKYQ7ycUaadtVKVYdI40QcI3cHn0qLFlg2iBXmWp/B+i\n' - + 'Z34VuVlCh31Uj5WmhaBoz8t/GRqh1V/aCsf3Wc6jCezH3QfuCjBpzxdOOHN6Ie2v\n' - + 'xX09O5qmZTvMoRBAvPkxdaPg/Mi7fxueWTbEVk78kuFbF1jHYw8U1BLILIAhcqlq\n' - + 'x4u8nl73t3O3l/soNUcIwUDK0/S+Kfqhwn9yQyPlhb4Wy3pfnZLJdkyHldktnQav\n' - + '9TB9u7KH5Lk0aAYslMLxAgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBT8roM4lRnlFHWMPWRz0zkwFZog1jAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQUFAAOCAQEA\n' - + 'JwrxwgwmPtcdaU7O7WDdYa4hprpOMamI49NDzmE0s10oGrqmLwZygcWU0jT+fJ+Y\n' - + 'pJe1w0CVfKaeLYNsOBVW3X4ZPmffYfWBheZiaiEflq/P6t7/Eg81gaKYnZ/x1Dfa\n' - + 'sUYkzPvCkXe9wEz5zdUTOCptDt89rBR9CstL9vE7WYUgiVVmBJffWbHQLtfjv6OF\n' - + 'NMb0QME981kGRzc2WhgP71YS2hHd1kXtsoYP1yTu4vThSKsoN4bkiHsaC1cRkLoy\n' - + '0fFA4wpB3WloMEvCDaUvvH1LZlBXTNlwi9KtcwD4tDxkkBt4tQczKLGpQ/nF/W9n\n' - + '8YDWk3IIc1sd0bkZqoau2Q==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-south-1 certificate CA 2016 to 2020 - * - * CN = Amazon RDS ap-south-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2016-05-03T21:29:22Z/2020-03-05T21:29:22Z - * F = F3:A3:C2:52:D9:82:20:AC:8C:62:31:2A:8C:AD:5D:7B:1C:31:F1:DD - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/TCCAuWgAwIBAgIBTTANBgkqhkiG9w0BAQsFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNjA1MDMyMTI5MjJaFw0y\n' - + 'MDAzMDUyMTI5MjJaMIGQMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEhMB8GA1UEAwwYQW1hem9uIFJE\n' - + 'UyBhcC1zb3V0aC0xIENBMIIBIjANBgkqhkiG9w0BAQEFAAOCAQ8AMIIBCgKCAQEA\n' - + '06eWGLE0TeqL9kyWOLkS8q0fXO97z+xyBV3DKSB2lg2GkgBz3B98MkmkeB0SZy3G\n' - + 'Ce4uCpCPbFKiFEdiUclOlhZsrBuCeaimxLM3Ig2wuenElO/7TqgaYHYUbT3d+VQW\n' - + 'GUbLn5GRZJZe1OAClYdOWm7A1CKpuo+cVV1vxbY2nGUQSJPpVn2sT9gnwvjdE60U\n' - + 'JGYU/RLCTm8zmZBvlWaNIeKDnreIc4rKn6gUnJ2cQn1ryCVleEeyc3xjYDSrjgdn\n' - + 'FLYGcp9mphqVT0byeQMOk0c7RHpxrCSA0V5V6/CreFV2LteK50qcDQzDSM18vWP/\n' - + 'p09FoN8O7QrtOeZJzH/lmwIDAQABo2YwZDAOBgNVHQ8BAf8EBAMCAQYwEgYDVR0T\n' - + 'AQH/BAgwBgEB/wIBADAdBgNVHQ4EFgQU2i83QHuEl/d0keXF+69HNJph7cMwHwYD\n' - + 'VR0jBBgwFoAUTgLurD72FchM7Sz1BcGPnIQISYMwDQYJKoZIhvcNAQELBQADggEB\n' - + 'ACqnH2VjApoDqoSQOky52QBwsGaj+xWYHW5Gm7EvCqvQuhWMkeBuD6YJmMvNyA9G\n' - + 'I2lh6/o+sUk/RIsbYbxPRdhNPTOgDR9zsNRw6qxaHztq/CEC+mxDCLa3O1hHBaDV\n' - + 'BmB3nCZb93BvO0EQSEk7aytKq/f+sjyxqOcs385gintdHGU9uM7gTZHnU9vByJsm\n' - + '/TL07Miq67X0NlhIoo3jAk+xHaeKJdxdKATQp0448P5cY20q4b8aMk1twcNaMvCP\n' - + 'dG4M5doaoUA8OQ/0ukLLae/LBxLeTw04q1/a2SyFaVUX2Twbb1S3xVWwLA8vsyGr\n' - + 'igXx7B5GgP+IHb6DTjPJAi0=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-east-2 certificate CA 2016 to 2020 - * - * CN = Amazon RDS us-east-2 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2016-08-11T19:58:45Z/2020-03-05T19:58:45Z - * F = 9B:78:E3:64:7F:74:BC:B2:52:18:CF:13:C3:62:B8:35:9D:3D:5F:B6 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBTjANBgkqhkiG9w0BAQsFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNjA4MTExOTU4NDVaFw0y\n' - + 'MDAzMDUxOTU4NDVaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyB1cy1lYXN0LTIgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQCp\n' - + 'WnnUX7wM0zzstccX+4iXKJa9GR0a2PpvB1paEX4QRCgfhEdQWDaSqyrWNgdVCKkt\n' - + '1aQkWu5j6VAC2XIG7kKoonm1ZdBVyBLqW5lXNywlaiU9yhJkwo8BR+/OqgE+PLt/\n' - + 'EO1mlN0PQudja/XkExCXTO29TG2j7F/O7hox6vTyHNHc0H88zS21uPuBE+jivViS\n' - + 'yzj/BkyoQ85hnkues3f9R6gCGdc+J51JbZnmgzUkvXjAEuKhAm9JksVOxcOKUYe5\n' - + 'ERhn0U9zjzpfbAITIkul97VVa5IxskFFTHIPJbvRKHJkiF6wTJww/tc9wm+fSCJ1\n' - + '+DbQTGZgkQ3bJrqRN29/AgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBSAHQzUYYZbepwKEMvGdHp8wzHnfDAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQsFAAOCAQEA\n' - + 'MbaEzSYZ+aZeTBxf8yi0ta8K4RdwEJsEmP6IhFFQHYUtva2Cynl4Q9tZg3RMsybT\n' - + '9mlnSQQlbN/wqIIXbkrcgFcHoXG9Odm/bDtUwwwDaiEhXVfeQom3G77QHOWMTCGK\n' - + 'qadwuh5msrb17JdXZoXr4PYHDKP7j0ONfAyFNER2+uecblHfRSpVq5UeF3L6ZJb8\n' - + 'fSw/GtAV6an+/0r+Qm+PiI2H5XuZ4GmRJYnGMhqWhBYrY7p3jtVnKcsh39wgfUnW\n' - + 'AvZEZG/yhFyAZW0Essa39LiL5VSq14Y1DOj0wgnhSY/9WHxaAo1HB1T9OeZknYbD\n' - + 'fl/EGSZ0TEvZkENrXcPlVA==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ca-central-1 certificate CA 2016 to 2020 - * - * CN = Amazon RDS ca-central-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2016-09-15T00:10:11Z/2020-03-05T00:10:11Z - * F = D7:E0:16:AB:8A:0B:63:9F:67:1F:16:87:42:F4:0A:EE:73:A6:FC:04 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/zCCAuegAwIBAgIBTzANBgkqhkiG9w0BAQsFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNjA5MTUwMDEwMTFaFw0y\n' - + 'MDAzMDUwMDEwMTFaMIGSMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEjMCEGA1UEAwwaQW1hem9uIFJE\n' - + 'UyBjYS1jZW50cmFsLTEgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIB\n' - + 'AQCZYI/iQ6DrS3ny3t1EwX1wAD+3LMgh7Fd01EW5LIuaK2kYIIQpsVKhxLCit/V5\n' - + 'AGc/1qiJS1Qz9ODLTh0Na6bZW6EakRzuHJLe32KJtoFYPC7Z09UqzXrpA/XL+1hM\n' - + 'P0ZmCWsU7Nn/EmvfBp9zX3dZp6P6ATrvDuYaVFr+SA7aT3FXpBroqBS1fyzUPs+W\n' - + 'c6zTR6+yc4zkHX0XQxC5RH6xjgpeRkoOajA/sNo7AQF7KlWmKHbdVF44cvvAhRKZ\n' - + 'XaoVs/C4GjkaAEPTCbopYdhzg+KLx9eB2BQnYLRrIOQZtRfbQI2Nbj7p3VsRuOW1\n' - + 'tlcks2w1Gb0YC6w6SuIMFkl1AgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNV\n' - + 'HRMBAf8ECDAGAQH/AgEAMB0GA1UdDgQWBBToYWxE1lawl6Ks6NsvpbHQ3GKEtzAf\n' - + 'BgNVHSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQsFAAOC\n' - + 'AQEAG/8tQ0ooi3hoQpa5EJz0/E5VYBsAz3YxA2HoIonn0jJyG16bzB4yZt4vNQMA\n' - + 'KsNlQ1uwDWYL1nz63axieUUFIxqxl1KmwfhsmLgZ0Hd2mnTPIl2Hw3uj5+wdgGBg\n' - + 'agnAZ0bajsBYgD2VGQbqjdk2Qn7Fjy3LEWIvGZx4KyZ99OJ2QxB7JOPdauURAtWA\n' - + 'DKYkP4LLJxtj07DSzG8kuRWb9B47uqUD+eKDIyjfjbnzGtd9HqqzYFau7EX3HVD9\n' - + '9Qhnjl7bTZ6YfAEZ3nH2t3Vc0z76XfGh47rd0pNRhMV+xpok75asKf/lNh5mcUrr\n' - + 'VKwflyMkQpSbDCmcdJ90N2xEXQ==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-west-2 certificate CA 2016 to 2020 - * - * CN = Amazon RDS eu-west-2 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2016-10-10T17:44:42Z/2020-03-05T17:44:42Z - * F = 47:79:51:9F:FF:07:D3:F4:27:D3:AB:64:56:7F:00:45:BB:84:C1:71 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBUDANBgkqhkiG9w0BAQsFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNjEwMTAxNzQ0NDJaFw0y\n' - + 'MDAzMDUxNzQ0NDJaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyBldS13ZXN0LTIgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQDO\n' - + 'cttLJfubB4XMMIGWNfJISkIdCMGJyOzLiMJaiWB5GYoXKhEl7YGotpy0qklwW3BQ\n' - + 'a0fmVdcCLX+dIuVQ9iFK+ZcK7zwm7HtdDTCHOCKeOh2IcnU4c/VIokFi6Gn8udM6\n' - + 'N/Zi5M5OGpVwLVALQU7Yctsn3c95el6MdVx6mJiIPVu7tCVZn88Z2koBQ2gq9P4O\n' - + 'Sb249SHFqOb03lYDsaqy1NDsznEOhaRBw7DPJFpvmw1lA3/Y6qrExRI06H2VYR2i\n' - + '7qxwDV50N58fs10n7Ye1IOxTVJsgEA7X6EkRRXqYaM39Z76R894548WHfwXWjUsi\n' - + 'MEX0RS0/t1GmnUQjvevDAgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBQBxmcuRSxERYCtNnSr5xNfySokHjAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQsFAAOCAQEA\n' - + 'UyCUQjsF3nUAABjfEZmpksTuUo07aT3KGYt+EMMFdejnBQ0+2lJJFGtT+CDAk1SD\n' - + 'RSgfEBon5vvKEtlnTf9a3pv8WXOAkhfxnryr9FH6NiB8obISHNQNPHn0ljT2/T+I\n' - + 'Y6ytfRvKHa0cu3V0NXbJm2B4KEOt4QCDiFxUIX9z6eB4Kditwu05OgQh6KcogOiP\n' - + 'JesWxBMXXGoDC1rIYTFO7szwDyOHlCcVXJDNsTJhc32oDWYdeIbW7o/5I+aQsrXZ\n' - + 'C96HykZcgWzz6sElrQxUaT3IoMw/5nmw4uWKKnZnxgI9bY4fpQwMeBZ96iHfFxvH\n' - + 'mqfEEuC7uUoPofXdBp2ObQ==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-gov-west-1 CA 2017 to 2022 - * - * CN = Amazon RDS us-gov-west-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2017-05-19T22:31:19Z/2022-05-18T12:00:00Z - * F = 77:55:8C:C4:5E:71:1F:1B:57:E3:DA:6E:5B:74:27:12:4E:E8:69:E8 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIECjCCAvKgAwIBAgICEAAwDQYJKoZIhvcNAQELBQAwgZMxCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSQwIgYDVQQDDBtBbWF6b24gUkRTIEdvdkNsb3VkIFJvb3QgQ0EwHhcNMTcwNTE5\n' - + 'MjIzMTE5WhcNMjIwNTE4MTIwMDAwWjCBkzELMAkGA1UEBhMCVVMxEzARBgNVBAgM\n' - + 'Cldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoMGUFtYXpvbiBX\n' - + 'ZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMxJDAiBgNVBAMM\n' - + 'G0FtYXpvbiBSRFMgdXMtZ292LXdlc3QtMSBDQTCCASIwDQYJKoZIhvcNAQEBBQAD\n' - + 'ggEPADCCAQoCggEBAM8YZLKAzzOdNnoi7Klih26Zkj+OCpDfwx4ZYB6f8L8UoQi5\n' - + '8z9ZtIwMjiJ/kO08P1yl4gfc7YZcNFvhGruQZNat3YNpxwUpQcr4mszjuffbL4uz\n' - + '+/8FBxALdqCVOJ5Q0EVSfz3d9Bd1pUPL7ARtSpy7bn/tUPyQeI+lODYO906C0TQ3\n' - + 'b9bjOsgAdBKkHfjLdsknsOZYYIzYWOJyFJJa0B11XjDUNBy/3IuC0KvDl6At0V5b\n' - + '8M6cWcKhte2hgjwTYepV+/GTadeube1z5z6mWsN5arOAQUtYDLH6Aztq9mCJzLHm\n' - + 'RccBugnGl3fRLJ2VjioN8PoGoN9l9hFBy5fnFgsCAwEAAaNmMGQwDgYDVR0PAQH/\n' - + 'BAQDAgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFEG7+br8KkvwPd5g\n' - + '71Rvh2stclJbMB8GA1UdIwQYMBaAFEkQz6S4NS5lOYKcDjBSuCcVpdzjMA0GCSqG\n' - + 'SIb3DQEBCwUAA4IBAQBMA327u5ABmhX+aPxljoIbxnydmAFWxW6wNp5+rZrvPig8\n' - + 'zDRqGQWWr7wWOIjfcWugSElYtf/m9KZHG/Z6+NG7nAoUrdcd1h/IQhb+lFQ2b5g9\n' - + 'sVzQv/H2JNkfZA8fL/Ko/Tm/f9tcqe0zrGCtT+5u0Nvz35Wl8CEUKLloS5xEb3k5\n' - + '7D9IhG3fsE3vHWlWrGCk1cKry3j12wdPG5cUsug0vt34u6rdhP+FsM0tHI15Kjch\n' - + 'RuUCvyQecy2ZFNAa3jmd5ycNdL63RWe8oayRBpQBxPPCbHfILxGZEdJbCH9aJ2D/\n' - + 'l8oHIDnvOLdv7/cBjyYuvmprgPtu3QEkbre5Hln/\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-west-3 certificate CA 2017 to 2020 - * - * CN = Amazon RDS eu-west-3 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2017-08-25T21:39:26Z/2020-03-05T21:39:26Z - * F = FD:35:A7:84:60:68:98:00:12:54:ED:34:26:8C:66:0F:72:DD:B2:F4 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIID/DCCAuSgAwIBAgIBUTANBgkqhkiG9w0BAQsFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNzA4MjUyMTM5MjZaFw0y\n' - + 'MDAzMDUyMTM5MjZaMIGPMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEgMB4GA1UEAwwXQW1hem9uIFJE\n' - + 'UyBldS13ZXN0LTMgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IBDwAwggEKAoIBAQC+\n' - + 'xmlEC/3a4cJH+UPwXCE02lC7Zq5NHd0dn6peMeLN8agb6jW4VfSY0NydjRj2DJZ8\n' - + 'K7wV6sub5NUGT1NuFmvSmdbNR2T59KX0p2dVvxmXHHtIpQ9Y8Aq3ZfhmC5q5Bqgw\n' - + 'tMA1xayDi7HmoPX3R8kk9ktAZQf6lDeksCvok8idjTu9tiSpDiMwds5BjMsWfyjZ\n' - + 'd13PTGGNHYVdP692BSyXzSP1Vj84nJKnciW8tAqwIiadreJt5oXyrCXi8ekUMs80\n' - + 'cUTuGm3aA3Q7PB5ljJMPqz0eVddaiIvmTJ9O3Ez3Du/HpImyMzXjkFaf+oNXf/Hx\n' - + '/EW5jCRR6vEiXJcDRDS7AgMBAAGjZjBkMA4GA1UdDwEB/wQEAwIBBjASBgNVHRMB\n' - + 'Af8ECDAGAQH/AgEAMB0GA1UdDgQWBBRZ9mRtS5fHk3ZKhG20Oack4cAqMTAfBgNV\n' - + 'HSMEGDAWgBROAu6sPvYVyEztLPUFwY+chAhJgzANBgkqhkiG9w0BAQsFAAOCAQEA\n' - + 'F/u/9L6ExQwD73F/bhCw7PWcwwqsK1mypIdrjdIsu0JSgwWwGCXmrIspA3n3Dqxq\n' - + 'sMhAJD88s9Em7337t+naar2VyLO63MGwjj+vA4mtvQRKq8ScIpiEc7xN6g8HUMsd\n' - + 'gPG9lBGfNjuAZsrGJflrko4HyuSM7zHExMjXLH+CXcv/m3lWOZwnIvlVMa4x0Tz0\n' - + 'A4fklaawryngzeEjuW6zOiYCzjZtPlP8Fw0SpzppJ8VpQfrZ751RDo4yudmPqoPK\n' - + '5EUe36L8U+oYBXnC5TlYs9bpVv9o5wJQI5qA9oQE2eFWxF1E0AyZ4V5sgGUBStaX\n' - + 'BjDDWul0wSo7rt1Tq7XpnA==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-northeast-3 certificate CA 2017 to 2020 - * - * CN = Amazon RDS ap-northeast-3 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2017-12-01T00:55:42Z/2020-03-05T00:55:42Z - * F = C0:C7:D4:B3:91:40:A0:77:43:28:BF:AF:77:57:DF:FD:98:FB:10:3F - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEATCCAumgAwIBAgIBTjANBgkqhkiG9w0BAQUFADCBijELMAkGA1UEBhMCVVMx\n' - + 'EzARBgNVBAgMCldhc2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'GzAZBgNVBAMMEkFtYXpvbiBSRFMgUm9vdCBDQTAeFw0xNzEyMDEwMDU1NDJaFw0y\n' - + 'MDAzMDUwMDU1NDJaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2FzaGluZ3Rv\n' - + 'bjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNl\n' - + 'cywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1hem9uIFJE\n' - + 'UyBhcC1ub3J0aGVhc3QtMyBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEPADCCAQoC\n' - + 'ggEBAMZtQNnm/XT19mTa10ftHLzg5UhajoI65JHv4TQNdGXdsv+CQdGYU49BJ9Eu\n' - + '3bYgiEtTzR2lQe9zGMvtuJobLhOWuavzp7IixoIQcHkFHN6wJ1CvqrxgvJfBq6Hy\n' - + 'EuCDCiU+PPDLUNA6XM6Qx3IpHd1wrJkjRB80dhmMSpxmRmx849uFafhN+P1QybsM\n' - + 'TI0o48VON2+vj+mNuQTyLMMP8D4odSQHjaoG+zyJfJGZeAyqQyoOUOFEyQaHC3TT\n' - + '3IDSNCQlpxb9LerbCoKu79WFBBq3CS5cYpg8/fsnV2CniRBFFUumBt5z4dhw9RJU\n' - + 'qlUXXO1ZyzpGd+c5v6FtrfXtnIUCAwEAAaNmMGQwDgYDVR0PAQH/BAQDAgEGMBIG\n' - + 'A1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFETv7ELNplYy/xTeIOInl6nzeiHg\n' - + 'MB8GA1UdIwQYMBaAFE4C7qw+9hXITO0s9QXBj5yECEmDMA0GCSqGSIb3DQEBBQUA\n' - + 'A4IBAQCpKxOQcd0tEKb3OtsOY8q/MPwTyustGk2Rt7t9G68idADp8IytB7M0SDRo\n' - + 'wWZqynEq7orQVKdVOanhEWksNDzGp0+FPAf/KpVvdYCd7ru3+iI+V4ZEp2JFdjuZ\n' - + 'Zz0PIjS6AgsZqE5Ri1J+NmfmjGZCPhsHnGZiBaenX6K5VRwwwmLN6xtoqrrfR5zL\n' - + 'QfBeeZNJG6KiM3R/DxJ5rAa6Fz+acrhJ60L7HprhB7SFtj1RCijau3+ZwiGmUOMr\n' - + 'yKlMv+VgmzSw7o4Hbxy1WVrA6zQsTHHSGf+vkQn2PHvnFMUEu/ZLbTDYFNmTLK91\n' - + 'K6o4nMsEvhBKgo4z7H1EqqxXhvN2\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS GovCloud Root CA 2017 to 2022 - * - * CN = Amazon RDS GovCloud Root CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2017-05-19T22:29:11Z/2022-05-18T22:29:11Z - * F = A3:61:F9:C9:A2:5B:91:FE:73:A6:52:E3:59:14:8E:CE:35:12:0F:FD - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEDjCCAvagAwIBAgIJAMM61RQn3/kdMA0GCSqGSIb3DQEBCwUAMIGTMQswCQYD\n' - + 'VQQGEwJVUzEQMA4GA1UEBwwHU2VhdHRsZTETMBEGA1UECAwKV2FzaGluZ3RvbjEi\n' - + 'MCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1h\n' - + 'em9uIFJEUzEkMCIGA1UEAwwbQW1hem9uIFJEUyBHb3ZDbG91ZCBSb290IENBMB4X\n' - + 'DTE3MDUxOTIyMjkxMVoXDTIyMDUxODIyMjkxMVowgZMxCzAJBgNVBAYTAlVTMRAw\n' - + 'DgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQKDBlB\n' - + 'bWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRTMSQw\n' - + 'IgYDVQQDDBtBbWF6b24gUkRTIEdvdkNsb3VkIFJvb3QgQ0EwggEiMA0GCSqGSIb3\n' - + 'DQEBAQUAA4IBDwAwggEKAoIBAQDGS9bh1FGiJPT+GRb3C5aKypJVDC1H2gbh6n3u\n' - + 'j8cUiyMXfmm+ak402zdLpSYMaxiQ7oL/B3wEmumIpRDAsQrSp3B/qEeY7ipQGOfh\n' - + 'q2TXjXGIUjiJ/FaoGqkymHRLG+XkNNBtb7MRItsjlMVNELXECwSiMa3nJL2/YyHW\n' - + 'nTr1+11/weeZEKgVbCUrOugFkMXnfZIBSn40j6EnRlO2u/NFU5ksK5ak2+j8raZ7\n' - + 'xW7VXp9S1Tgf1IsWHjGZZZguwCkkh1tHOlHC9gVA3p63WecjrIzcrR/V27atul4m\n' - + 'tn56s5NwFvYPUIx1dbC8IajLUrepVm6XOwdQCfd02DmOyjWJAgMBAAGjYzBhMA4G\n' - + 'A1UdDwEB/wQEAwIBBjAPBgNVHRMBAf8EBTADAQH/MB0GA1UdDgQWBBRJEM+kuDUu\n' - + 'ZTmCnA4wUrgnFaXc4zAfBgNVHSMEGDAWgBRJEM+kuDUuZTmCnA4wUrgnFaXc4zAN\n' - + 'BgkqhkiG9w0BAQsFAAOCAQEAcfA7uirXsNZyI2j4AJFVtOTKOZlQwqbyNducnmlg\n' - + '/5nug9fAkwM4AgvF5bBOD1Hw6khdsccMwIj+1S7wpL+EYb/nSc8G0qe1p/9lZ/mZ\n' - + 'ff5g4JOa26lLuCrZDqAk4TzYnt6sQKfa5ZXVUUn0BK3okhiXS0i+NloMyaBCL7vk\n' - + 'kDwkHwEqflRKfZ9/oFTcCfoiHPA7AdBtaPVr0/Kj9L7k+ouz122huqG5KqX0Zpo8\n' - + 'S0IGvcd2FZjNSNPttNAK7YuBVsZ0m2nIH1SLp//00v7yAHIgytQwwB17PBcp4NXD\n' - + 'pCfTa27ng9mMMC2YLqWQpW4TkqjDin2ZC+5X/mbrjzTvVg==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-east-1 certificate CA 2019 to 2022 - * - * CN = Amazon RDS ap-east-1 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-02-17T02:47:00Z/2022-06-01T12:00:00Z - * F = BC:F8:70:75:1F:93:3F:A7:82:86:67:63:A8:86:1F:A4:E8:07:CE:06 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBzCCAu+gAwIBAgICEAAwDQYJKoZIhvcNAQELBQAwgZQxCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSUwIwYDVQQDDBxBbWF6b24gUkRTIGFwLWVhc3QtMSBSb290IENBMB4XDTE5MDIx\n' - + 'NzAyNDcwMFoXDTIyMDYwMTEyMDAwMFowgY8xCzAJBgNVBAYTAlVTMRMwEQYDVQQI\n' - + 'DApXYXNoaW5ndG9uMRAwDgYDVQQHDAdTZWF0dGxlMSIwIAYDVQQKDBlBbWF6b24g\n' - + 'V2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRTMSAwHgYDVQQD\n' - + 'DBdBbWF6b24gUkRTIGFwLWVhc3QtMSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEP\n' - + 'ADCCAQoCggEBAOcJAUofyJuBuPr5ISHi/Ha5ed8h3eGdzn4MBp6rytPOg9NVGRQs\n' - + 'O93fNGCIKsUT6gPuk+1f1ncMTV8Y0Fdf4aqGWme+Khm3ZOP3V1IiGnVq0U2xiOmn\n' - + 'SQ4Q7LoeQC4lC6zpoCHVJyDjZ4pAknQQfsXb77Togdt/tK5ahev0D+Q3gCwAoBoO\n' - + 'DHKJ6t820qPi63AeGbJrsfNjLKiXlFPDUj4BGir4dUzjEeH7/hx37na1XG/3EcxP\n' - + '399cT5k7sY/CR9kctMlUyEEUNQOmhi/ly1Lgtihm3QfjL6K9aGLFNwX35Bkh9aL2\n' - + 'F058u+n8DP/dPeKUAcJKiQZUmzuen5n57x8CAwEAAaNmMGQwDgYDVR0PAQH/BAQD\n' - + 'AgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFFlqgF4FQlb9yP6c+Q3E\n' - + 'O3tXv+zOMB8GA1UdIwQYMBaAFK9T6sY/PBZVbnHcNcQXf58P4OuPMA0GCSqGSIb3\n' - + 'DQEBCwUAA4IBAQDeXiS3v1z4jWAo1UvVyKDeHjtrtEH1Rida1eOXauFuEQa5tuOk\n' - + 'E53Os4haZCW4mOlKjigWs4LN+uLIAe1aFXGo92nGIqyJISHJ1L+bopx/JmIbHMCZ\n' - + '0lTNJfR12yBma5VQy7vzeFku/SisKwX0Lov1oHD4MVhJoHbUJYkmAjxorcIHORvh\n' - + 'I3Vj5XrgDWtLDPL8/Id/roul/L+WX5ir+PGScKBfQIIN2lWdZoqdsx8YWqhm/ikL\n' - + 'C6qNieSwcvWL7C03ri0DefTQMY54r5wP33QU5hJ71JoaZI3YTeT0Nf+NRL4hM++w\n' - + 'Q0veeNzBQXg1f/JxfeA39IDIX1kiCf71tGlT\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-northeast-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS ap-northeast-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-18T16:56:20Z/2024-08-22T17:08:50Z - * F = 47:A3:F9:20:64:5C:9F:9D:48:8C:7D:E6:0B:86:D6:05:13:00:16:A1 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEDDCCAvSgAwIBAgICcEUwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTgxNjU2\n' - + 'MjBaFw0yNDA4MjIxNzA4NTBaMIGZMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEqMCgGA1UEAwwhQW1h\n' - + 'em9uIFJEUyBhcC1ub3J0aGVhc3QtMSAyMDE5IENBMIIBIjANBgkqhkiG9w0BAQEF\n' - + 'AAOCAQ8AMIIBCgKCAQEAndtkldmHtk4TVQAyqhAvtEHSMb6pLhyKrIFved1WO3S7\n' - + '+I+bWwv9b2W/ljJxLq9kdT43bhvzonNtI4a1LAohS6bqyirmk8sFfsWT3akb+4Sx\n' - + '1sjc8Ovc9eqIWJCrUiSvv7+cS7ZTA9AgM1PxvHcsqrcUXiK3Jd/Dax9jdZE1e15s\n' - + 'BEhb2OEPE+tClFZ+soj8h8Pl2Clo5OAppEzYI4LmFKtp1X/BOf62k4jviXuCSst3\n' - + 'UnRJzE/CXtjmN6oZySVWSe0rQYuyqRl6//9nK40cfGKyxVnimB8XrrcxUN743Vud\n' - + 'QQVU0Esm8OVTX013mXWQXJHP2c0aKkog8LOga0vobQIDAQABo2YwZDAOBgNVHQ8B\n' - + 'Af8EBAMCAQYwEgYDVR0TAQH/BAgwBgEB/wIBADAdBgNVHQ4EFgQULmoOS1mFSjj+\n' - + 'snUPx4DgS3SkLFYwHwYDVR0jBBgwFoAUc19g2LzLA5j0Kxc0LjZapmD/vB8wDQYJ\n' - + 'KoZIhvcNAQELBQADggEBAAkVL2P1M2/G9GM3DANVAqYOwmX0Xk58YBHQu6iiQg4j\n' - + 'b4Ky/qsZIsgT7YBsZA4AOcPKQFgGTWhe9pvhmXqoN3RYltN8Vn7TbUm/ZVDoMsrM\n' - + 'gwv0+TKxW1/u7s8cXYfHPiTzVSJuOogHx99kBW6b2f99GbP7O1Sv3sLq4j6lVvBX\n' - + 'Fiacf5LAWC925nvlTzLlBgIc3O9xDtFeAGtZcEtxZJ4fnGXiqEnN4539+nqzIyYq\n' - + 'nvlgCzyvcfRAxwltrJHuuRu6Maw5AGcd2Y0saMhqOVq9KYKFKuD/927BTrbd2JVf\n' - + '2sGWyuPZPCk3gq+5pCjbD0c6DkhcMGI6WwxvM5V/zSM=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-northeast-2 certificate CA 2019 to 2024 - * - * CN = Amazon RDS ap-northeast-2 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-10T17:46:21Z/2024-08-22T17:08:50Z - * F = 8E:1C:70:C1:64:BD:FC:F9:93:9B:A2:67:CA:CF:52:F0:E1:F7:B4:F0 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEDDCCAvSgAwIBAgICOFAwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTAxNzQ2\n' - + 'MjFaFw0yNDA4MjIxNzA4NTBaMIGZMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEqMCgGA1UEAwwhQW1h\n' - + 'em9uIFJEUyBhcC1ub3J0aGVhc3QtMiAyMDE5IENBMIIBIjANBgkqhkiG9w0BAQEF\n' - + 'AAOCAQ8AMIIBCgKCAQEAzU72e6XbaJbi4HjJoRNjKxzUEuChKQIt7k3CWzNnmjc5\n' - + '8I1MjCpa2W1iw1BYVysXSNSsLOtUsfvBZxi/1uyMn5ZCaf9aeoA9UsSkFSZBjOCN\n' - + 'DpKPCmfV1zcEOvJz26+1m8WDg+8Oa60QV0ou2AU1tYcw98fOQjcAES0JXXB80P2s\n' - + '3UfkNcnDz+l4k7j4SllhFPhH6BQ4lD2NiFAP4HwoG6FeJUn45EPjzrydxjq6v5Fc\n' - + 'cQ8rGuHADVXotDbEhaYhNjIrsPL+puhjWfhJjheEw8c4whRZNp6gJ/b6WEes/ZhZ\n' - + 'h32DwsDsZw0BfRDUMgUn8TdecNexHUw8vQWeC181hwIDAQABo2YwZDAOBgNVHQ8B\n' - + 'Af8EBAMCAQYwEgYDVR0TAQH/BAgwBgEB/wIBADAdBgNVHQ4EFgQUwW9bWgkWkr0U\n' - + 'lrOsq2kvIdrECDgwHwYDVR0jBBgwFoAUc19g2LzLA5j0Kxc0LjZapmD/vB8wDQYJ\n' - + 'KoZIhvcNAQELBQADggEBAEugF0Gj7HVhX0ehPZoGRYRt3PBuI2YjfrrJRTZ9X5wc\n' - + '9T8oHmw07mHmNy1qqWvooNJg09bDGfB0k5goC2emDiIiGfc/kvMLI7u+eQOoMKj6\n' - + 'mkfCncyRN3ty08Po45vTLBFZGUvtQmjM6yKewc4sXiASSBmQUpsMbiHRCL72M5qV\n' - + 'obcJOjGcIdDTmV1BHdWT+XcjynsGjUqOvQWWhhLPrn4jWe6Xuxll75qlrpn3IrIx\n' - + 'CRBv/5r7qbcQJPOgwQsyK4kv9Ly8g7YT1/vYBlR3cRsYQjccw5ceWUj2DrMVWhJ4\n' - + 'prf+E3Aa4vYmLLOUUvKnDQ1k3RGNu56V0tonsQbfsaM=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-northeast-3 certificate CA 2019 to 2024 - * - * CN = Amazon RDS ap-northeast-3 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-17T20:05:29Z/2024-08-22T17:08:50Z - * F = D1:08:B1:40:6D:6C:80:8E:F4:C1:2C:8A:1F:66:17:01:54:CD:1A:4E - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEDDCCAvSgAwIBAgICOYIwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTcyMDA1\n' - + 'MjlaFw0yNDA4MjIxNzA4NTBaMIGZMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEqMCgGA1UEAwwhQW1h\n' - + 'em9uIFJEUyBhcC1ub3J0aGVhc3QtMyAyMDE5IENBMIIBIjANBgkqhkiG9w0BAQEF\n' - + 'AAOCAQ8AMIIBCgKCAQEA4dMak8W+XW8y/2F6nRiytFiA4XLwePadqWebGtlIgyCS\n' - + 'kbug8Jv5w7nlMkuxOxoUeD4WhI6A9EkAn3r0REM/2f0aYnd2KPxeqS2MrtdxxHw1\n' - + 'xoOxk2x0piNSlOz6yog1idsKR5Wurf94fvM9FdTrMYPPrDabbGqiBMsZZmoHLvA3\n' - + 'Z+57HEV2tU0Ei3vWeGIqnNjIekS+E06KhASxrkNU5vi611UsnYZlSi0VtJsH4UGV\n' - + 'LhnHl53aZL0YFO5mn/fzuNG/51qgk/6EFMMhaWInXX49Dia9FnnuWXwVwi6uX1Wn\n' - + '7kjoHi5VtmC8ZlGEHroxX2DxEr6bhJTEpcLMnoQMqwIDAQABo2YwZDAOBgNVHQ8B\n' - + 'Af8EBAMCAQYwEgYDVR0TAQH/BAgwBgEB/wIBADAdBgNVHQ4EFgQUsUI5Cb3SWB8+\n' - + 'gv1YLN/ABPMdxSAwHwYDVR0jBBgwFoAUc19g2LzLA5j0Kxc0LjZapmD/vB8wDQYJ\n' - + 'KoZIhvcNAQELBQADggEBAJAF3E9PM1uzVL8YNdzb6fwJrxxqI2shvaMVmC1mXS+w\n' - + 'G0zh4v2hBZOf91l1EO0rwFD7+fxoI6hzQfMxIczh875T6vUXePKVOCOKI5wCrDad\n' - + 'zQbVqbFbdhsBjF4aUilOdtw2qjjs9JwPuB0VXN4/jY7m21oKEOcnpe36+7OiSPjN\n' - + 'xngYewCXKrSRqoj3mw+0w/+exYj3Wsush7uFssX18av78G+ehKPIVDXptOCP/N7W\n' - + '8iKVNeQ2QGTnu2fzWsGUSvMGyM7yqT+h1ILaT//yQS8er511aHMLc142bD4D9VSy\n' - + 'DgactwPDTShK/PXqhvNey9v/sKXm4XatZvwcc8KYlW4=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-south-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS ap-south-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-04T17:13:04Z/2024-08-22T17:08:50Z - * F = D6:AD:45:A9:54:36:E4:BA:9C:B7:9B:06:8C:0C:CD:CC:1E:81:B5:00 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIECDCCAvCgAwIBAgICVIYwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MDQxNzEz\n' - + 'MDRaFw0yNDA4MjIxNzA4NTBaMIGVMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEmMCQGA1UEAwwdQW1h\n' - + 'em9uIFJEUyBhcC1zb3V0aC0xIDIwMTkgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IB\n' - + 'DwAwggEKAoIBAQDUYOz1hGL42yUCrcsMSOoU8AeD/3KgZ4q7gP+vAz1WnY9K/kim\n' - + 'eWN/2Qqzlo3+mxSFQFyD4MyV3+CnCPnBl9Sh1G/F6kThNiJ7dEWSWBQGAB6HMDbC\n' - + 'BaAsmUc1UIz8sLTL3fO+S9wYhA63Wun0Fbm/Rn2yk/4WnJAaMZcEtYf6e0KNa0LM\n' - + 'p/kN/70/8cD3iz3dDR8zOZFpHoCtf0ek80QqTich0A9n3JLxR6g6tpwoYviVg89e\n' - + 'qCjQ4axxOkWWeusLeTJCcY6CkVyFvDAKvcUl1ytM5AiaUkXblE7zDFXRM4qMMRdt\n' - + 'lPm8d3pFxh0fRYk8bIKnpmtOpz3RIctDrZZxAgMBAAGjZjBkMA4GA1UdDwEB/wQE\n' - + 'AwIBBjASBgNVHRMBAf8ECDAGAQH/AgEAMB0GA1UdDgQWBBT99wKJftD3jb4sHoHG\n' - + 'i3uGlH6W6TAfBgNVHSMEGDAWgBRzX2DYvMsDmPQrFzQuNlqmYP+8HzANBgkqhkiG\n' - + '9w0BAQsFAAOCAQEAZ17hhr3dII3hUfuHQ1hPWGrpJOX/G9dLzkprEIcCidkmRYl+\n' - + 'hu1Pe3caRMh/17+qsoEErmnVq5jNY9X1GZL04IZH8YbHc7iRHw3HcWAdhN8633+K\n' - + 'jYEB2LbJ3vluCGnCejq9djDb6alOugdLMJzxOkHDhMZ6/gYbECOot+ph1tQuZXzD\n' - + 'tZ7prRsrcuPBChHlPjmGy8M9z8u+kF196iNSUGC4lM8vLkHM7ycc1/ZOwRq9aaTe\n' - + 'iOghbQQyAEe03MWCyDGtSmDfr0qEk+CHN+6hPiaL8qKt4s+V9P7DeK4iW08ny8Ox\n' - + 'AVS7u0OK/5+jKMAMrKwpYrBydOjTUTHScocyNw==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-southeast-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS ap-southeast-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-13T20:11:42Z/2024-08-22T17:08:50Z - * F = 0D:20:FB:91:DE:BE:D2:CF:F3:F8:F8:43:AF:68:C6:03:76:F3:DD:B8 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEDDCCAvSgAwIBAgICY4kwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTMyMDEx\n' - + 'NDJaFw0yNDA4MjIxNzA4NTBaMIGZMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEqMCgGA1UEAwwhQW1h\n' - + 'em9uIFJEUyBhcC1zb3V0aGVhc3QtMSAyMDE5IENBMIIBIjANBgkqhkiG9w0BAQEF\n' - + 'AAOCAQ8AMIIBCgKCAQEAr5u9OuLL/OF/fBNUX2kINJLzFl4DnmrhnLuSeSnBPgbb\n' - + 'qddjf5EFFJBfv7IYiIWEFPDbDG5hoBwgMup5bZDbas+ZTJTotnnxVJTQ6wlhTmns\n' - + 'eHECcg2pqGIKGrxZfbQhlj08/4nNAPvyYCTS0bEcmQ1emuDPyvJBYDDLDU6AbCB5\n' - + '6Z7YKFQPTiCBblvvNzchjLWF9IpkqiTsPHiEt21sAdABxj9ityStV3ja/W9BfgxH\n' - + 'wzABSTAQT6FbDwmQMo7dcFOPRX+hewQSic2Rn1XYjmNYzgEHisdUsH7eeXREAcTw\n' - + '61TRvaLH8AiOWBnTEJXPAe6wYfrcSd1pD0MXpoB62wIDAQABo2YwZDAOBgNVHQ8B\n' - + 'Af8EBAMCAQYwEgYDVR0TAQH/BAgwBgEB/wIBADAdBgNVHQ4EFgQUytwMiomQOgX5\n' - + 'Ichd+2lDWRUhkikwHwYDVR0jBBgwFoAUc19g2LzLA5j0Kxc0LjZapmD/vB8wDQYJ\n' - + 'KoZIhvcNAQELBQADggEBACf6lRDpfCD7BFRqiWM45hqIzffIaysmVfr+Jr+fBTjP\n' - + 'uYe/ba1omSrNGG23bOcT9LJ8hkQJ9d+FxUwYyICQNWOy6ejicm4z0C3VhphbTPqj\n' - + 'yjpt9nG56IAcV8BcRJh4o/2IfLNzC/dVuYJV8wj7XzwlvjysenwdrJCoLadkTr1h\n' - + 'eIdG6Le07sB9IxrGJL9e04afk37h7c8ESGSE4E+oS4JQEi3ATq8ne1B9DQ9SasXi\n' - + 'IRmhNAaISDzOPdyLXi9N9V9Lwe/DHcja7hgLGYx3UqfjhLhOKwp8HtoZORixAmOI\n' - + 'HfILgNmwyugAbuZoCazSKKBhQ0wgO0WZ66ZKTMG8Oho=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ap-southeast-2 certificate CA 2019 to 2024 - * - * CN = Amazon RDS ap-southeast-2 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-16T19:53:47Z/2024-08-22T17:08:50Z - * F = D5:D4:51:83:D9:A3:AC:47:B0:0A:5A:77:D8:A0:79:A9:6A:3F:6D:96 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEDDCCAvSgAwIBAgICEkYwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTYxOTUz\n' - + 'NDdaFw0yNDA4MjIxNzA4NTBaMIGZMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEqMCgGA1UEAwwhQW1h\n' - + 'em9uIFJEUyBhcC1zb3V0aGVhc3QtMiAyMDE5IENBMIIBIjANBgkqhkiG9w0BAQEF\n' - + 'AAOCAQ8AMIIBCgKCAQEAufodI2Flker8q7PXZG0P0vmFSlhQDw907A6eJuF/WeMo\n' - + 'GHnll3b4S6nC3oRS3nGeRMHbyU2KKXDwXNb3Mheu+ox+n5eb/BJ17eoj9HbQR1cd\n' - + 'gEkIciiAltf8gpMMQH4anP7TD+HNFlZnP7ii3geEJB2GGXSxgSWvUzH4etL67Zmn\n' - + 'TpGDWQMB0T8lK2ziLCMF4XAC/8xDELN/buHCNuhDpxpPebhct0T+f6Arzsiswt2j\n' - + '7OeNeLLZwIZvVwAKF7zUFjC6m7/VmTQC8nidVY559D6l0UhhU0Co/txgq3HVsMOH\n' - + 'PbxmQUwJEKAzQXoIi+4uZzHFZrvov/nDTNJUhC6DqwIDAQABo2YwZDAOBgNVHQ8B\n' - + 'Af8EBAMCAQYwEgYDVR0TAQH/BAgwBgEB/wIBADAdBgNVHQ4EFgQUwaZpaCme+EiV\n' - + 'M5gcjeHZSTgOn4owHwYDVR0jBBgwFoAUc19g2LzLA5j0Kxc0LjZapmD/vB8wDQYJ\n' - + 'KoZIhvcNAQELBQADggEBAAR6a2meCZuXO2TF9bGqKGtZmaah4pH2ETcEVUjkvXVz\n' - + 'sl+ZKbYjrun+VkcMGGKLUjS812e7eDF726ptoku9/PZZIxlJB0isC/0OyixI8N4M\n' - + 'NsEyvp52XN9QundTjkl362bomPnHAApeU0mRbMDRR2JdT70u6yAzGLGsUwMkoNnw\n' - + '1VR4XKhXHYGWo7KMvFrZ1KcjWhubxLHxZWXRulPVtGmyWg/MvE6KF+2XMLhojhUL\n' - + '+9jB3Fpn53s6KMx5tVq1x8PukHmowcZuAF8k+W4gk8Y68wIwynrdZrKRyRv6CVtR\n' - + 'FZ8DeJgoNZT3y/GT254VqMxxfuy2Ccb/RInd16tEvVk=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS ca-central-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS ca-central-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-10T20:52:25Z/2024-08-22T17:08:50Z - * F = A1:03:46:F2:BB:29:BF:4F:EC:04:7E:82:9A:A6:C0:11:4D:AB:82:25 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIECjCCAvKgAwIBAgICEzUwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTAyMDUy\n' - + 'MjVaFw0yNDA4MjIxNzA4NTBaMIGXMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEoMCYGA1UEAwwfQW1h\n' - + 'em9uIFJEUyBjYS1jZW50cmFsLTEgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQAD\n' - + 'ggEPADCCAQoCggEBAOxHqdcPSA2uBjsCP4DLSlqSoPuQ/X1kkJLusVRKiQE2zayB\n' - + 'viuCBt4VB9Qsh2rW3iYGM+usDjltGnI1iUWA5KHcvHszSMkWAOYWLiMNKTlg6LCp\n' - + 'XnE89tvj5dIH6U8WlDvXLdjB/h30gW9JEX7S8supsBSci2GxEzb5mRdKaDuuF/0O\n' - + 'qvz4YE04pua3iZ9QwmMFuTAOYzD1M72aOpj+7Ac+YLMM61qOtU+AU6MndnQkKoQi\n' - + 'qmUN2A9IFaqHFzRlSdXwKCKUA4otzmz+/N3vFwjb5F4DSsbsrMfjeHMo6o/nb6Nh\n' - + 'YDb0VJxxPee6TxSuN7CQJ2FxMlFUezcoXqwqXD0CAwEAAaNmMGQwDgYDVR0PAQH/\n' - + 'BAQDAgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFDGGpon9WfIpsggE\n' - + 'CxHq8hZ7E2ESMB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqG\n' - + 'SIb3DQEBCwUAA4IBAQAvpeQYEGZvoTVLgV9rd2+StPYykMsmFjWQcyn3dBTZRXC2\n' - + 'lKq7QhQczMAOhEaaN29ZprjQzsA2X/UauKzLR2Uyqc2qOeO9/YOl0H3qauo8C/W9\n' - + 'r8xqPbOCDLEXlOQ19fidXyyEPHEq5WFp8j+fTh+s8WOx2M7IuC0ANEetIZURYhSp\n' - + 'xl9XOPRCJxOhj7JdelhpweX0BJDNHeUFi0ClnFOws8oKQ7sQEv66d5ddxqqZ3NVv\n' - + 'RbCvCtEutQMOUMIuaygDlMn1anSM8N7Wndx8G6+Uy67AnhjGx7jw/0YPPxopEj6x\n' - + 'JXP8j0sJbcT9K/9/fPVLNT25RvQ/93T2+IQL4Ca2\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-central-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS eu-central-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-11T19:36:20Z/2024-08-22T17:08:50Z - * F = 53:46:18:4A:42:65:A2:8C:5F:5B:0A:AD:E2:2C:80:E5:E6:8A:6D:2F - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIECjCCAvKgAwIBAgICV2YwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTExOTM2\n' - + 'MjBaFw0yNDA4MjIxNzA4NTBaMIGXMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEoMCYGA1UEAwwfQW1h\n' - + 'em9uIFJEUyBldS1jZW50cmFsLTEgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQAD\n' - + 'ggEPADCCAQoCggEBAMEx54X2pHVv86APA0RWqxxRNmdkhAyp2R1cFWumKQRofoFv\n' - + 'n+SPXdkpIINpMuEIGJANozdiEz7SPsrAf8WHyD93j/ZxrdQftRcIGH41xasetKGl\n' - + 'I67uans8d+pgJgBKGb/Z+B5m+UsIuEVekpvgpwKtmmaLFC/NCGuSsJoFsRqoa6Gh\n' - + 'm34W6yJoY87UatddCqLY4IIXaBFsgK9Q/wYzYLbnWM6ZZvhJ52VMtdhcdzeTHNW0\n' - + '5LGuXJOF7Ahb4JkEhoo6TS2c0NxB4l4MBfBPgti+O7WjR3FfZHpt18A6Zkq6A2u6\n' - + 'D/oTSL6c9/3sAaFTFgMyL3wHb2YlW0BPiljZIqECAwEAAaNmMGQwDgYDVR0PAQH/\n' - + 'BAQDAgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFOcAToAc6skWffJa\n' - + 'TnreaswAfrbcMB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqG\n' - + 'SIb3DQEBCwUAA4IBAQA1d0Whc1QtspK496mFWfFEQNegLh0a9GWYlJm+Htcj5Nxt\n' - + 'DAIGXb+8xrtOZFHmYP7VLCT5Zd2C+XytqseK/+s07iAr0/EPF+O2qcyQWMN5KhgE\n' - + 'cXw2SwuP9FPV3i+YAm11PBVeenrmzuk9NrdHQ7TxU4v7VGhcsd2C++0EisrmquWH\n' - + 'mgIfmVDGxphwoES52cY6t3fbnXmTkvENvR+h3rj+fUiSz0aSo+XZUGHPgvuEKM/W\n' - + 'CBD9Smc9CBoBgvy7BgHRgRUmwtABZHFUIEjHI5rIr7ZvYn+6A0O6sogRfvVYtWFc\n' - + 'qpyrW1YX8mD0VlJ8fGKM3G+aCOsiiPKDV/Uafrm+\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-north-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS eu-north-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-12T18:19:44Z/2024-08-22T17:08:50Z - * F = D0:CA:9C:6E:47:4C:4F:DB:85:28:03:4A:60:AC:14:E0:E6:DF:D4:42 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIECDCCAvCgAwIBAgICGAcwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTIxODE5\n' - + 'NDRaFw0yNDA4MjIxNzA4NTBaMIGVMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzEmMCQGA1UEAwwdQW1h\n' - + 'em9uIFJEUyBldS1ub3J0aC0xIDIwMTkgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IB\n' - + 'DwAwggEKAoIBAQCiIYnhe4UNBbdBb/nQxl5giM0XoVHWNrYV5nB0YukA98+TPn9v\n' - + 'Aoj1RGYmtryjhrf01Kuv8SWO+Eom95L3zquoTFcE2gmxCfk7bp6qJJ3eHOJB+QUO\n' - + 'XsNRh76fwDzEF1yTeZWH49oeL2xO13EAx4PbZuZpZBttBM5zAxgZkqu4uWQczFEs\n' - + 'JXfla7z2fvWmGcTagX10O5C18XaFroV0ubvSyIi75ue9ykg/nlFAeB7O0Wxae88e\n' - + 'uhiBEFAuLYdqWnsg3459NfV8Yi1GnaitTym6VI3tHKIFiUvkSiy0DAlAGV2iiyJE\n' - + 'q+DsVEO4/hSINJEtII4TMtysOsYPpINqeEzRAgMBAAGjZjBkMA4GA1UdDwEB/wQE\n' - + 'AwIBBjASBgNVHRMBAf8ECDAGAQH/AgEAMB0GA1UdDgQWBBRR0UpnbQyjnHChgmOc\n' - + 'hnlc0PogzTAfBgNVHSMEGDAWgBRzX2DYvMsDmPQrFzQuNlqmYP+8HzANBgkqhkiG\n' - + '9w0BAQsFAAOCAQEAKJD4xVzSf4zSGTBJrmamo86jl1NHQxXUApAZuBZEc8tqC6TI\n' - + 'T5CeoSr9CMuVC8grYyBjXblC4OsM5NMvmsrXl/u5C9dEwtBFjo8mm53rOOIm1fxl\n' - + 'I1oYB/9mtO9ANWjkykuLzWeBlqDT/i7ckaKwalhLODsRDO73vRhYNjsIUGloNsKe\n' - + 'pxw3dzHwAZx4upSdEVG4RGCZ1D0LJ4Gw40OfD69hfkDfRVVxKGrbEzqxXRvovmDc\n' - + 'tKLdYZO/6REoca36v4BlgIs1CbUXJGLSXUwtg7YXGLSVBJ/U0+22iGJmBSNcoyUN\n' - + 'cjPFD9JQEhDDIYYKSGzIYpvslvGc4T5ISXFiuQ==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-west-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS eu-west-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-11T17:31:48Z/2024-08-22T17:08:50Z - * F = 2D:1A:A6:3E:0D:EB:D6:26:03:3E:A1:8A:0A:DF:14:80:78:EC:B6:63 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBzCCAu+gAwIBAgICYpgwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTExNzMx\n' - + 'NDhaFw0yNDA4MjIxNzA4NTBaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1h\n' - + 'em9uIFJEUyBldS13ZXN0LTEgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEP\n' - + 'ADCCAQoCggEBAMk3YdSZ64iAYp6MyyKtYJtNzv7zFSnnNf6vv0FB4VnfITTMmOyZ\n' - + 'LXqKAT2ahZ00hXi34ewqJElgU6eUZT/QlzdIu359TEZyLVPwURflL6SWgdG01Q5X\n' - + 'O++7fSGcBRyIeuQWs9FJNIIqK8daF6qw0Rl5TXfu7P9dBc3zkgDXZm2DHmxGDD69\n' - + '7liQUiXzoE1q2Z9cA8+jirDioJxN9av8hQt12pskLQumhlArsMIhjhHRgF03HOh5\n' - + 'tvi+RCfihVOxELyIRTRpTNiIwAqfZxxTWFTgfn+gijTmd0/1DseAe82aYic8JbuS\n' - + 'EMbrDduAWsqrnJ4GPzxHKLXX0JasCUcWyMECAwEAAaNmMGQwDgYDVR0PAQH/BAQD\n' - + 'AgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFPLtsq1NrwJXO13C9eHt\n' - + 'sLY11AGwMB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqGSIb3\n' - + 'DQEBCwUAA4IBAQAnWBKj5xV1A1mYd0kIgDdkjCwQkiKF5bjIbGkT3YEFFbXoJlSP\n' - + '0lZZ/hDaOHI8wbLT44SzOvPEEmWF9EE7SJzkvSdQrUAWR9FwDLaU427ALI3ngNHy\n' - + 'lGJ2hse1fvSRNbmg8Sc9GBv8oqNIBPVuw+AJzHTacZ1OkyLZrz1c1QvwvwN2a+Jd\n' - + 'vH0V0YIhv66llKcYDMUQJAQi4+8nbRxXWv6Gq3pvrFoorzsnkr42V3JpbhnYiK+9\n' - + 'nRKd4uWl62KRZjGkfMbmsqZpj2fdSWMY1UGyN1k+kDmCSWYdrTRDP0xjtIocwg+A\n' - + 'J116n4hV/5mbA0BaPiS2krtv17YAeHABZcvz\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-west-2 certificate CA 2019 to 2024 - * - * CN = Amazon RDS eu-west-2 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-12T21:32:32Z/2024-08-22T17:08:50Z - * F = 60:65:44:F4:74:6E:2E:29:50:19:38:7C:4B:BE:18:B9:5B:D4:CD:23 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBzCCAu+gAwIBAgICZIEwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTIyMTMy\n' - + 'MzJaFw0yNDA4MjIxNzA4NTBaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1h\n' - + 'em9uIFJEUyBldS13ZXN0LTIgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEP\n' - + 'ADCCAQoCggEBALGiwqjiF7xIjT0Sx7zB3764K2T2a1DHnAxEOr+/EIftWKxWzT3u\n' - + 'PFwS2eEZcnKqSdRQ+vRzonLBeNLO4z8aLjQnNbkizZMBuXGm4BqRm1Kgq3nlLDQn\n' - + '7YqdijOq54SpShvR/8zsO4sgMDMmHIYAJJOJqBdaus2smRt0NobIKc0liy7759KB\n' - + '6kmQ47Gg+kfIwxrQA5zlvPLeQImxSoPi9LdbRoKvu7Iot7SOa+jGhVBh3VdqndJX\n' - + '7tm/saj4NE375csmMETFLAOXjat7zViMRwVorX4V6AzEg1vkzxXpA9N7qywWIT5Y\n' - + 'fYaq5M8i6vvLg0CzrH9fHORtnkdjdu1y+0MCAwEAAaNmMGQwDgYDVR0PAQH/BAQD\n' - + 'AgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFFOhOx1yt3Z7mvGB9jBv\n' - + '2ymdZwiOMB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqGSIb3\n' - + 'DQEBCwUAA4IBAQBehqY36UGDvPVU9+vtaYGr38dBbp+LzkjZzHwKT1XJSSUc2wqM\n' - + 'hnCIQKilonrTIvP1vmkQi8qHPvDRtBZKqvz/AErW/ZwQdZzqYNFd+BmOXaeZWV0Q\n' - + 'oHtDzXmcwtP8aUQpxN0e1xkWb1E80qoy+0uuRqb/50b/R4Q5qqSfJhkn6z8nwB10\n' - + '7RjLtJPrK8igxdpr3tGUzfAOyiPrIDncY7UJaL84GFp7WWAkH0WG3H8Y8DRcRXOU\n' - + 'mqDxDLUP3rNuow3jnGxiUY+gGX5OqaZg4f4P6QzOSmeQYs6nLpH0PiN00+oS1BbD\n' - + 'bpWdZEttILPI+vAYkU4QuBKKDjJL6HbSd+cn\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS eu-west-3 certificate CA 2019 to 2024 - * - * CN = Amazon RDS eu-west-3 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-18T17:03:15Z/2024-08-22T17:08:50Z - * F = 6F:79:56:B0:74:9C:C6:3E:3B:50:26:C8:51:55:08:F0:BB:7E:32:04 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBzCCAu+gAwIBAgICJDQwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTgxNzAz\n' - + 'MTVaFw0yNDA4MjIxNzA4NTBaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1h\n' - + 'em9uIFJEUyBldS13ZXN0LTMgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEP\n' - + 'ADCCAQoCggEBAL9bL7KE0n02DLVtlZ2PL+g/BuHpMYFq2JnE2RgompGurDIZdjmh\n' - + '1pxfL3nT+QIVMubuAOy8InRfkRxfpxyjKYdfLJTPJG+jDVL+wDcPpACFVqoV7Prg\n' - + 'pVYEV0lc5aoYw4bSeYFhdzgim6F8iyjoPnObjll9mo4XsHzSoqJLCd0QC+VG9Fw2\n' - + 'q+GDRZrLRmVM2oNGDRbGpGIFg77aRxRapFZa8SnUgs2AqzuzKiprVH5i0S0M6dWr\n' - + 'i+kk5epmTtkiDHceX+dP/0R1NcnkCPoQ9TglyXyPdUdTPPRfKCq12dftqll+u4mV\n' - + 'ARdN6WFjovxax8EAP2OAUTi1afY+1JFMj+sCAwEAAaNmMGQwDgYDVR0PAQH/BAQD\n' - + 'AgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFLfhrbrO5exkCVgxW0x3\n' - + 'Y2mAi8lNMB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqGSIb3\n' - + 'DQEBCwUAA4IBAQAigQ5VBNGyw+OZFXwxeJEAUYaXVoP/qrhTOJ6mCE2DXUVEoJeV\n' - + 'SxScy/TlFA9tJXqmit8JH8VQ/xDL4ubBfeMFAIAo4WzNWDVoeVMqphVEcDWBHsI1\n' - + 'AETWzfsapRS9yQekOMmxg63d/nV8xewIl8aNVTHdHYXMqhhik47VrmaVEok1UQb3\n' - + 'O971RadLXIEbVd9tjY5bMEHm89JsZDnDEw1hQXBb67Elu64OOxoKaHBgUH8AZn/2\n' - + 'zFsL1ynNUjOhCSAA15pgd1vjwc0YsBbAEBPcHBWYBEyME6NLNarjOzBl4FMtATSF\n' - + 'wWCKRGkvqN8oxYhwR2jf2rR5Mu4DWkK5Q8Ep\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS me-south-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS me-south-1 Root CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-05-10T21:48:27Z/2024-05-08T21:48:27Z - * F = 8A:69:D7:00:FB:5D:62:9C:B0:D1:75:6F:B7:B6:38:AA:76:C4:BD:1F - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEEjCCAvqgAwIBAgIJANew34ehz5l8MA0GCSqGSIb3DQEBCwUAMIGVMQswCQYD\n' - + 'VQQGEwJVUzEQMA4GA1UEBwwHU2VhdHRsZTETMBEGA1UECAwKV2FzaGluZ3RvbjEi\n' - + 'MCAGA1UECgwZQW1hem9uIFdlYiBTZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1h\n' - + 'em9uIFJEUzEmMCQGA1UEAwwdQW1hem9uIFJEUyBtZS1zb3V0aC0xIFJvb3QgQ0Ew\n' - + 'HhcNMTkwNTEwMjE0ODI3WhcNMjQwNTA4MjE0ODI3WjCBlTELMAkGA1UEBhMCVVMx\n' - + 'EDAOBgNVBAcMB1NlYXR0bGUxEzARBgNVBAgMCldhc2hpbmd0b24xIjAgBgNVBAoM\n' - + 'GUFtYXpvbiBXZWIgU2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMx\n' - + 'JjAkBgNVBAMMHUFtYXpvbiBSRFMgbWUtc291dGgtMSBSb290IENBMIIBIjANBgkq\n' - + 'hkiG9w0BAQEFAAOCAQ8AMIIBCgKCAQEAp7BYV88MukcY+rq0r79+C8UzkT30fEfT\n' - + 'aPXbx1d6M7uheGN4FMaoYmL+JE1NZPaMRIPTHhFtLSdPccInvenRDIatcXX+jgOk\n' - + 'UA6lnHQ98pwN0pfDUyz/Vph4jBR9LcVkBbe0zdoKKp+HGbMPRU0N2yNrog9gM5O8\n' - + 'gkU/3O2csJ/OFQNnj4c2NQloGMUpEmedwJMOyQQfcUyt9CvZDfIPNnheUS29jGSw\n' - + 'ERpJe/AENu8Pxyc72jaXQuD+FEi2Ck6lBkSlWYQFhTottAeGvVFNCzKszCntrtqd\n' - + 'rdYUwurYsLTXDHv9nW2hfDUQa0mhXf9gNDOBIVAZugR9NqNRNyYLHQIDAQABo2Mw\n' - + 'YTAOBgNVHQ8BAf8EBAMCAQYwDwYDVR0TAQH/BAUwAwEB/zAdBgNVHQ4EFgQU54cf\n' - + 'DjgwBx4ycBH8+/r8WXdaiqYwHwYDVR0jBBgwFoAU54cfDjgwBx4ycBH8+/r8WXda\n' - + 'iqYwDQYJKoZIhvcNAQELBQADggEBAIIMTSPx/dR7jlcxggr+O6OyY49Rlap2laKA\n' - + 'eC/XI4ySP3vQkIFlP822U9Kh8a9s46eR0uiwV4AGLabcu0iKYfXjPkIprVCqeXV7\n' - + 'ny9oDtrbflyj7NcGdZLvuzSwgl9SYTJp7PVCZtZutsPYlbJrBPHwFABvAkMvRtDB\n' - + 'hitIg4AESDGPoCl94sYHpfDfjpUDMSrAMDUyO6DyBdZH5ryRMAs3lGtsmkkNUrso\n' - + 'aTW6R05681Z0mvkRdb+cdXtKOSuDZPoe2wJJIaz3IlNQNSrB5TImMYgmt6iAsFhv\n' - + '3vfTSTKrZDNTJn4ybG6pq1zWExoXsktZPylJly6R3RBwV6nwqBM=\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS sa-east-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS sa-east-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-05T18:46:29Z/2024-08-22T17:08:50Z - * F = 8C:34:0F:AA:FB:10:80:9C:05:CE:D7:BF:0B:12:4D:07:42:39:74:7A - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBzCCAu+gAwIBAgICQ2QwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MDUxODQ2\n' - + 'MjlaFw0yNDA4MjIxNzA4NTBaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1h\n' - + 'em9uIFJEUyBzYS1lYXN0LTEgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEP\n' - + 'ADCCAQoCggEBAMMvR+ReRnOzqJzoaPipNTt1Z2VA968jlN1+SYKUrYM3No+Vpz0H\n' - + 'M6Tn0oYB66ByVsXiGc28ulsqX1HbHsxqDPwvQTKvO7SrmDokoAkjJgLocOLUAeld\n' - + '5AwvUjxGRP6yY90NV7X786MpnYb2Il9DIIaV9HjCmPt+rjy2CZjS0UjPjCKNfB8J\n' - + 'bFjgW6GGscjeyGb/zFwcom5p4j0rLydbNaOr9wOyQrtt3ZQWLYGY9Zees/b8pmcc\n' - + 'Jt+7jstZ2UMV32OO/kIsJ4rMUn2r/uxccPwAc1IDeRSSxOrnFKhW3Cu69iB3bHp7\n' - + 'JbawY12g7zshE4I14sHjv3QoXASoXjx4xgMCAwEAAaNmMGQwDgYDVR0PAQH/BAQD\n' - + 'AgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFI1Fc/Ql2jx+oJPgBVYq\n' - + 'ccgP0pQ8MB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqGSIb3\n' - + 'DQEBCwUAA4IBAQB4VVVabVp70myuYuZ3vltQIWqSUMhkaTzehMgGcHjMf9iLoZ/I\n' - + '93KiFUSGnek5cRePyS9wcpp0fcBT3FvkjpUdCjVtdttJgZFhBxgTd8y26ImdDDMR\n' - + '4+BUuhI5msvjL08f+Vkkpu1GQcGmyFVPFOy/UY8iefu+QyUuiBUnUuEDd49Hw0Fn\n' - + '/kIPII6Vj82a2mWV/Q8e+rgN8dIRksRjKI03DEoP8lhPlsOkhdwU6Uz9Vu6NOB2Q\n' - + 'Ls1kbcxAc7cFSyRVJEhh12Sz9d0q/CQSTFsVJKOjSNQBQfVnLz1GwO/IieUEAr4C\n' - + 'jkTntH0r1LX5b/GwN4R887LvjAEdTbg1his7\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-east-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS us-east-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-19T18:16:53Z/2024-08-22T17:08:50Z - * F = F0:ED:82:3E:D1:44:47:BA:B5:57:FD:F3:E4:92:74:66:98:8C:1C:78 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBzCCAu+gAwIBAgICJVUwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTkxODE2\n' - + 'NTNaFw0yNDA4MjIxNzA4NTBaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1h\n' - + 'em9uIFJEUyB1cy1lYXN0LTEgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEP\n' - + 'ADCCAQoCggEBAM3i/k2u6cqbMdcISGRvh+m+L0yaSIoOXjtpNEoIftAipTUYoMhL\n' - + 'InXGlQBVA4shkekxp1N7HXe1Y/iMaPEyb3n+16pf3vdjKl7kaSkIhjdUz3oVUEYt\n' - + 'i8Z/XeJJ9H2aEGuiZh3kHixQcZczn8cg3dA9aeeyLSEnTkl/npzLf//669Ammyhs\n' - + 'XcAo58yvT0D4E0D/EEHf2N7HRX7j/TlyWvw/39SW0usiCrHPKDLxByLojxLdHzso\n' - + 'QIp/S04m+eWn6rmD+uUiRteN1hI5ncQiA3wo4G37mHnUEKo6TtTUh+sd/ku6a8HK\n' - + 'glMBcgqudDI90s1OpuIAWmuWpY//8xEG2YECAwEAAaNmMGQwDgYDVR0PAQH/BAQD\n' - + 'AgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFPqhoWZcrVY9mU7tuemR\n' - + 'RBnQIj1jMB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqGSIb3\n' - + 'DQEBCwUAA4IBAQB6zOLZ+YINEs72heHIWlPZ8c6WY8MDU+Be5w1M+BK2kpcVhCUK\n' - + 'PJO4nMXpgamEX8DIiaO7emsunwJzMSvavSPRnxXXTKIc0i/g1EbiDjnYX9d85DkC\n' - + 'E1LaAUCmCZBVi9fIe0H2r9whIh4uLWZA41oMnJx/MOmo3XyMfQoWcqaSFlMqfZM4\n' - + '0rNoB/tdHLNuV4eIdaw2mlHxdWDtF4oH+HFm+2cVBUVC1jXKrFv/euRVtsTT+A6i\n' - + 'h2XBHKxQ1Y4HgAn0jACP2QSPEmuoQEIa57bEKEcZsBR8SDY6ZdTd2HLRIApcCOSF\n' - + 'MRM8CKLeF658I0XgF8D5EsYoKPsA+74Z+jDH\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-east-2 certificate CA 2019 to 2024 - * - * CN = Amazon RDS us-east-2 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-13T17:06:41Z/2024-08-22T17:08:50Z - * F = E9:FE:27:2A:A0:0F:CE:DF:AD:51:03:A6:94:F7:1F:6F:BD:1E:28:D3 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIECDCCAvCgAwIBAgIDAIVCMA0GCSqGSIb3DQEBCwUAMIGPMQswCQYDVQQGEwJV\n' - + 'UzEQMA4GA1UEBwwHU2VhdHRsZTETMBEGA1UECAwKV2FzaGluZ3RvbjEiMCAGA1UE\n' - + 'CgwZQW1hem9uIFdlYiBTZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJE\n' - + 'UzEgMB4GA1UEAwwXQW1hem9uIFJEUyBSb290IDIwMTkgQ0EwHhcNMTkwOTEzMTcw\n' - + 'NjQxWhcNMjQwODIyMTcwODUwWjCBlDELMAkGA1UEBhMCVVMxEzARBgNVBAgMCldh\n' - + 'c2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoMGUFtYXpvbiBXZWIg\n' - + 'U2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMxJTAjBgNVBAMMHEFt\n' - + 'YXpvbiBSRFMgdXMtZWFzdC0yIDIwMTkgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IB\n' - + 'DwAwggEKAoIBAQDE+T2xYjUbxOp+pv+gRA3FO24+1zCWgXTDF1DHrh1lsPg5k7ht\n' - + '2KPYzNc+Vg4E+jgPiW0BQnA6jStX5EqVh8BU60zELlxMNvpg4KumniMCZ3krtMUC\n' - + 'au1NF9rM7HBh+O+DYMBLK5eSIVt6lZosOb7bCi3V6wMLA8YqWSWqabkxwN4w0vXI\n' - + '8lu5uXXFRemHnlNf+yA/4YtN4uaAyd0ami9+klwdkZfkrDOaiy59haOeBGL8EB/c\n' - + 'dbJJlguHH5CpCscs3RKtOOjEonXnKXldxarFdkMzi+aIIjQ8GyUOSAXHtQHb3gZ4\n' - + 'nS6Ey0CMlwkB8vUObZU9fnjKJcL5QCQqOfwvAgMBAAGjZjBkMA4GA1UdDwEB/wQE\n' - + 'AwIBBjASBgNVHRMBAf8ECDAGAQH/AgEAMB0GA1UdDgQWBBQUPuRHohPxx4VjykmH\n' - + '6usGrLL1ETAfBgNVHSMEGDAWgBRzX2DYvMsDmPQrFzQuNlqmYP+8HzANBgkqhkiG\n' - + '9w0BAQsFAAOCAQEAUdR9Vb3y33Yj6X6KGtuthZ08SwjImVQPtknzpajNE5jOJAh8\n' - + 'quvQnU9nlnMO85fVDU1Dz3lLHGJ/YG1pt1Cqq2QQ200JcWCvBRgdvH6MjHoDQpqZ\n' - + 'HvQ3vLgOGqCLNQKFuet9BdpsHzsctKvCVaeBqbGpeCtt3Hh/26tgx0rorPLw90A2\n' - + 'V8QSkZJjlcKkLa58N5CMM8Xz8KLWg3MZeT4DmlUXVCukqK2RGuP2L+aME8dOxqNv\n' - + 'OnOz1zrL5mR2iJoDpk8+VE/eBDmJX40IJk6jBjWoxAO/RXq+vBozuF5YHN1ujE92\n' - + 'tO8HItgTp37XT8bJBAiAnt5mxw+NLSqtxk2QdQ==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-west-1 certificate CA 2019 to 2024 - * - * CN = Amazon RDS us-west-1 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-06T17:40:21Z/2024-08-22T17:08:50Z - * F = 1C:9F:DF:84:E6:13:32:F3:91:12:2D:0D:A5:9A:16:5D:AC:DC:E8:93 - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIECDCCAvCgAwIBAgIDAIkHMA0GCSqGSIb3DQEBCwUAMIGPMQswCQYDVQQGEwJV\n' - + 'UzEQMA4GA1UEBwwHU2VhdHRsZTETMBEGA1UECAwKV2FzaGluZ3RvbjEiMCAGA1UE\n' - + 'CgwZQW1hem9uIFdlYiBTZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJE\n' - + 'UzEgMB4GA1UEAwwXQW1hem9uIFJEUyBSb290IDIwMTkgQ0EwHhcNMTkwOTA2MTc0\n' - + 'MDIxWhcNMjQwODIyMTcwODUwWjCBlDELMAkGA1UEBhMCVVMxEzARBgNVBAgMCldh\n' - + 'c2hpbmd0b24xEDAOBgNVBAcMB1NlYXR0bGUxIjAgBgNVBAoMGUFtYXpvbiBXZWIg\n' - + 'U2VydmljZXMsIEluYy4xEzARBgNVBAsMCkFtYXpvbiBSRFMxJTAjBgNVBAMMHEFt\n' - + 'YXpvbiBSRFMgdXMtd2VzdC0xIDIwMTkgQ0EwggEiMA0GCSqGSIb3DQEBAQUAA4IB\n' - + 'DwAwggEKAoIBAQDD2yzbbAl77OofTghDMEf624OvU0eS9O+lsdO0QlbfUfWa1Kd6\n' - + '0WkgjkLZGfSRxEHMCnrv4UPBSK/Qwn6FTjkDLgemhqBtAnplN4VsoDL+BkRX4Wwq\n' - + '/dSQJE2b+0hm9w9UMVGFDEq1TMotGGTD2B71eh9HEKzKhGzqiNeGsiX4VV+LJzdH\n' - + 'uM23eGisNqmd4iJV0zcAZ+Gbh2zK6fqTOCvXtm7Idccv8vZZnyk1FiWl3NR4WAgK\n' - + 'AkvWTIoFU3Mt7dIXKKClVmvssG8WHCkd3Xcb4FHy/G756UZcq67gMMTX/9fOFM/v\n' - + 'l5C0+CHl33Yig1vIDZd+fXV1KZD84dEJfEvHAgMBAAGjZjBkMA4GA1UdDwEB/wQE\n' - + 'AwIBBjASBgNVHRMBAf8ECDAGAQH/AgEAMB0GA1UdDgQWBBR+ap20kO/6A7pPxo3+\n' - + 'T3CfqZpQWjAfBgNVHSMEGDAWgBRzX2DYvMsDmPQrFzQuNlqmYP+8HzANBgkqhkiG\n' - + '9w0BAQsFAAOCAQEAHCJky2tPjPttlDM/RIqExupBkNrnSYnOK4kr9xJ3sl8UF2DA\n' - + 'PAnYsjXp3rfcjN/k/FVOhxwzi3cXJF/2Tjj39Bm/OEfYTOJDNYtBwB0VVH4ffa/6\n' - + 'tZl87jaIkrxJcreeeHqYMnIxeN0b/kliyA+a5L2Yb0VPjt9INq34QDc1v74FNZ17\n' - + '4z8nr1nzg4xsOWu0Dbjo966lm4nOYIGBRGOKEkHZRZ4mEiMgr3YLkv8gSmeitx57\n' - + 'Z6dVemNtUic/LVo5Iqw4n3TBS0iF2C1Q1xT/s3h+0SXZlfOWttzSluDvoMv5PvCd\n' - + 'pFjNn+aXLAALoihL1MJSsxydtsLjOBro5eK0Vw==\n' - + '-----END CERTIFICATE-----\n', - - /** - * Amazon RDS us-west-2 certificate CA 2019 to 2024 - * - * CN = Amazon RDS us-west-2 2019 CA - * OU = Amazon RDS - * O = Amazon Web Services, Inc. - * L = Seattle - * ST = Washington - * C = US - * P = 2019-09-16T18:21:15Z/2024-08-22T17:08:50Z - * F = C8:DE:1D:13:AD:35:9B:3D:EA:18:2A:DC:B4:79:6D:22:47:75:3C:4A - */ - '-----BEGIN CERTIFICATE-----\n' - + 'MIIEBzCCAu+gAwIBAgICUYkwDQYJKoZIhvcNAQELBQAwgY8xCzAJBgNVBAYTAlVT\n' - + 'MRAwDgYDVQQHDAdTZWF0dGxlMRMwEQYDVQQIDApXYXNoaW5ndG9uMSIwIAYDVQQK\n' - + 'DBlBbWF6b24gV2ViIFNlcnZpY2VzLCBJbmMuMRMwEQYDVQQLDApBbWF6b24gUkRT\n' - + 'MSAwHgYDVQQDDBdBbWF6b24gUkRTIFJvb3QgMjAxOSBDQTAeFw0xOTA5MTYxODIx\n' - + 'MTVaFw0yNDA4MjIxNzA4NTBaMIGUMQswCQYDVQQGEwJVUzETMBEGA1UECAwKV2Fz\n' - + 'aGluZ3RvbjEQMA4GA1UEBwwHU2VhdHRsZTEiMCAGA1UECgwZQW1hem9uIFdlYiBT\n' - + 'ZXJ2aWNlcywgSW5jLjETMBEGA1UECwwKQW1hem9uIFJEUzElMCMGA1UEAwwcQW1h\n' - + 'em9uIFJEUyB1cy13ZXN0LTIgMjAxOSBDQTCCASIwDQYJKoZIhvcNAQEBBQADggEP\n' - + 'ADCCAQoCggEBANCEZBZyu6yJQFZBJmSUZfSZd3Ui2gitczMKC4FLr0QzkbxY+cLa\n' - + 'uVONIOrPt4Rwi+3h/UdnUg917xao3S53XDf1TDMFEYp4U8EFPXqCn/GXBIWlU86P\n' - + 'PvBN+gzw3nS+aco7WXb+woTouvFVkk8FGU7J532llW8o/9ydQyDIMtdIkKTuMfho\n' - + 'OiNHSaNc+QXQ32TgvM9A/6q7ksUoNXGCP8hDOkSZ/YOLiI5TcdLh/aWj00ziL5bj\n' - + 'pvytiMZkilnc9dLY9QhRNr0vGqL0xjmWdoEXz9/OwjmCihHqJq+20MJPsvFm7D6a\n' - + '2NKybR9U+ddrjb8/iyLOjURUZnj5O+2+OPcCAwEAAaNmMGQwDgYDVR0PAQH/BAQD\n' - + 'AgEGMBIGA1UdEwEB/wQIMAYBAf8CAQAwHQYDVR0OBBYEFEBxMBdv81xuzqcK5TVu\n' - + 'pHj+Aor8MB8GA1UdIwQYMBaAFHNfYNi8ywOY9CsXNC42WqZg/7wfMA0GCSqGSIb3\n' - + 'DQEBCwUAA4IBAQBZkfiVqGoJjBI37aTlLOSjLcjI75L5wBrwO39q+B4cwcmpj58P\n' - + '3sivv+jhYfAGEbQnGRzjuFoyPzWnZ1DesRExX+wrmHsLLQbF2kVjLZhEJMHF9eB7\n' - + 'GZlTPdTzHErcnuXkwA/OqyXMpj9aghcQFuhCNguEfnROY9sAoK2PTfnTz9NJHL+Q\n' - + 'UpDLEJEUfc0GZMVWYhahc0x38ZnSY2SKacIPECQrTI0KpqZv/P+ijCEcMD9xmYEb\n' - + 'jL4en+XKS1uJpw5fIU5Sj0MxhdGstH6S84iAE5J3GM3XHklGSFwwqPYvuTXvANH6\n' - + 'uboynxRgSae59jIlAK6Jrr6GWMwQRbgcaAlW\n' - + '-----END CERTIFICATE-----\n' - ] -}; diff --git a/node_modules/mysql/lib/protocol/constants/types.js b/node_modules/mysql/lib/protocol/constants/types.js deleted file mode 100644 index a33cd50..0000000 --- a/node_modules/mysql/lib/protocol/constants/types.js +++ /dev/null @@ -1,72 +0,0 @@ -/** - * MySQL type constants - * - * Extracted from version 5.7.29 - * - * !! Generated by generate-type-constants.js, do not modify by hand !! - */ - -exports.DECIMAL = 0; -exports.TINY = 1; -exports.SHORT = 2; -exports.LONG = 3; -exports.FLOAT = 4; -exports.DOUBLE = 5; -exports.NULL = 6; -exports.TIMESTAMP = 7; -exports.LONGLONG = 8; -exports.INT24 = 9; -exports.DATE = 10; -exports.TIME = 11; -exports.DATETIME = 12; -exports.YEAR = 13; -exports.NEWDATE = 14; -exports.VARCHAR = 15; -exports.BIT = 16; -exports.TIMESTAMP2 = 17; -exports.DATETIME2 = 18; -exports.TIME2 = 19; -exports.JSON = 245; -exports.NEWDECIMAL = 246; -exports.ENUM = 247; -exports.SET = 248; -exports.TINY_BLOB = 249; -exports.MEDIUM_BLOB = 250; -exports.LONG_BLOB = 251; -exports.BLOB = 252; -exports.VAR_STRING = 253; -exports.STRING = 254; -exports.GEOMETRY = 255; - -// Lookup-by-number table -exports[0] = 'DECIMAL'; -exports[1] = 'TINY'; -exports[2] = 'SHORT'; -exports[3] = 'LONG'; -exports[4] = 'FLOAT'; -exports[5] = 'DOUBLE'; -exports[6] = 'NULL'; -exports[7] = 'TIMESTAMP'; -exports[8] = 'LONGLONG'; -exports[9] = 'INT24'; -exports[10] = 'DATE'; -exports[11] = 'TIME'; -exports[12] = 'DATETIME'; -exports[13] = 'YEAR'; -exports[14] = 'NEWDATE'; -exports[15] = 'VARCHAR'; -exports[16] = 'BIT'; -exports[17] = 'TIMESTAMP2'; -exports[18] = 'DATETIME2'; -exports[19] = 'TIME2'; -exports[245] = 'JSON'; -exports[246] = 'NEWDECIMAL'; -exports[247] = 'ENUM'; -exports[248] = 'SET'; -exports[249] = 'TINY_BLOB'; -exports[250] = 'MEDIUM_BLOB'; -exports[251] = 'LONG_BLOB'; -exports[252] = 'BLOB'; -exports[253] = 'VAR_STRING'; -exports[254] = 'STRING'; -exports[255] = 'GEOMETRY'; diff --git a/node_modules/mysql/lib/protocol/packets/AuthSwitchRequestPacket.js b/node_modules/mysql/lib/protocol/packets/AuthSwitchRequestPacket.js deleted file mode 100644 index c74e6ec..0000000 --- a/node_modules/mysql/lib/protocol/packets/AuthSwitchRequestPacket.js +++ /dev/null @@ -1,20 +0,0 @@ -module.exports = AuthSwitchRequestPacket; -function AuthSwitchRequestPacket(options) { - options = options || {}; - - this.status = 0xfe; - this.authMethodName = options.authMethodName; - this.authMethodData = options.authMethodData; -} - -AuthSwitchRequestPacket.prototype.parse = function parse(parser) { - this.status = parser.parseUnsignedNumber(1); - this.authMethodName = parser.parseNullTerminatedString(); - this.authMethodData = parser.parsePacketTerminatedBuffer(); -}; - -AuthSwitchRequestPacket.prototype.write = function write(writer) { - writer.writeUnsignedNumber(1, this.status); - writer.writeNullTerminatedString(this.authMethodName); - writer.writeBuffer(this.authMethodData); -}; diff --git a/node_modules/mysql/lib/protocol/packets/AuthSwitchResponsePacket.js b/node_modules/mysql/lib/protocol/packets/AuthSwitchResponsePacket.js deleted file mode 100644 index 488abbd..0000000 --- a/node_modules/mysql/lib/protocol/packets/AuthSwitchResponsePacket.js +++ /dev/null @@ -1,14 +0,0 @@ -module.exports = AuthSwitchResponsePacket; -function AuthSwitchResponsePacket(options) { - options = options || {}; - - this.data = options.data; -} - -AuthSwitchResponsePacket.prototype.parse = function parse(parser) { - this.data = parser.parsePacketTerminatedBuffer(); -}; - -AuthSwitchResponsePacket.prototype.write = function write(writer) { - writer.writeBuffer(this.data); -}; diff --git a/node_modules/mysql/lib/protocol/packets/ClientAuthenticationPacket.js b/node_modules/mysql/lib/protocol/packets/ClientAuthenticationPacket.js deleted file mode 100644 index 595db77..0000000 --- a/node_modules/mysql/lib/protocol/packets/ClientAuthenticationPacket.js +++ /dev/null @@ -1,54 +0,0 @@ -var Buffer = require('safe-buffer').Buffer; - -module.exports = ClientAuthenticationPacket; -function ClientAuthenticationPacket(options) { - options = options || {}; - - this.clientFlags = options.clientFlags; - this.maxPacketSize = options.maxPacketSize; - this.charsetNumber = options.charsetNumber; - this.filler = undefined; - this.user = options.user; - this.scrambleBuff = options.scrambleBuff; - this.database = options.database; - this.protocol41 = options.protocol41; -} - -ClientAuthenticationPacket.prototype.parse = function(parser) { - if (this.protocol41) { - this.clientFlags = parser.parseUnsignedNumber(4); - this.maxPacketSize = parser.parseUnsignedNumber(4); - this.charsetNumber = parser.parseUnsignedNumber(1); - this.filler = parser.parseFiller(23); - this.user = parser.parseNullTerminatedString(); - this.scrambleBuff = parser.parseLengthCodedBuffer(); - this.database = parser.parseNullTerminatedString(); - } else { - this.clientFlags = parser.parseUnsignedNumber(2); - this.maxPacketSize = parser.parseUnsignedNumber(3); - this.user = parser.parseNullTerminatedString(); - this.scrambleBuff = parser.parseBuffer(8); - this.database = parser.parseLengthCodedBuffer(); - } -}; - -ClientAuthenticationPacket.prototype.write = function(writer) { - if (this.protocol41) { - writer.writeUnsignedNumber(4, this.clientFlags); - writer.writeUnsignedNumber(4, this.maxPacketSize); - writer.writeUnsignedNumber(1, this.charsetNumber); - writer.writeFiller(23); - writer.writeNullTerminatedString(this.user); - writer.writeLengthCodedBuffer(this.scrambleBuff); - writer.writeNullTerminatedString(this.database); - } else { - writer.writeUnsignedNumber(2, this.clientFlags); - writer.writeUnsignedNumber(3, this.maxPacketSize); - writer.writeNullTerminatedString(this.user); - writer.writeBuffer(this.scrambleBuff); - if (this.database && this.database.length) { - writer.writeFiller(1); - writer.writeBuffer(Buffer.from(this.database)); - } - } -}; diff --git a/node_modules/mysql/lib/protocol/packets/ComChangeUserPacket.js b/node_modules/mysql/lib/protocol/packets/ComChangeUserPacket.js deleted file mode 100644 index 3278842..0000000 --- a/node_modules/mysql/lib/protocol/packets/ComChangeUserPacket.js +++ /dev/null @@ -1,26 +0,0 @@ -module.exports = ComChangeUserPacket; -function ComChangeUserPacket(options) { - options = options || {}; - - this.command = 0x11; - this.user = options.user; - this.scrambleBuff = options.scrambleBuff; - this.database = options.database; - this.charsetNumber = options.charsetNumber; -} - -ComChangeUserPacket.prototype.parse = function(parser) { - this.command = parser.parseUnsignedNumber(1); - this.user = parser.parseNullTerminatedString(); - this.scrambleBuff = parser.parseLengthCodedBuffer(); - this.database = parser.parseNullTerminatedString(); - this.charsetNumber = parser.parseUnsignedNumber(1); -}; - -ComChangeUserPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, this.command); - writer.writeNullTerminatedString(this.user); - writer.writeLengthCodedBuffer(this.scrambleBuff); - writer.writeNullTerminatedString(this.database); - writer.writeUnsignedNumber(2, this.charsetNumber); -}; diff --git a/node_modules/mysql/lib/protocol/packets/ComPingPacket.js b/node_modules/mysql/lib/protocol/packets/ComPingPacket.js deleted file mode 100644 index dd332c9..0000000 --- a/node_modules/mysql/lib/protocol/packets/ComPingPacket.js +++ /dev/null @@ -1,12 +0,0 @@ -module.exports = ComPingPacket; -function ComPingPacket() { - this.command = 0x0e; -} - -ComPingPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, this.command); -}; - -ComPingPacket.prototype.parse = function(parser) { - this.command = parser.parseUnsignedNumber(1); -}; diff --git a/node_modules/mysql/lib/protocol/packets/ComQueryPacket.js b/node_modules/mysql/lib/protocol/packets/ComQueryPacket.js deleted file mode 100644 index 7ac191f..0000000 --- a/node_modules/mysql/lib/protocol/packets/ComQueryPacket.js +++ /dev/null @@ -1,15 +0,0 @@ -module.exports = ComQueryPacket; -function ComQueryPacket(sql) { - this.command = 0x03; - this.sql = sql; -} - -ComQueryPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, this.command); - writer.writeString(this.sql); -}; - -ComQueryPacket.prototype.parse = function(parser) { - this.command = parser.parseUnsignedNumber(1); - this.sql = parser.parsePacketTerminatedString(); -}; diff --git a/node_modules/mysql/lib/protocol/packets/ComQuitPacket.js b/node_modules/mysql/lib/protocol/packets/ComQuitPacket.js deleted file mode 100644 index 1104061..0000000 --- a/node_modules/mysql/lib/protocol/packets/ComQuitPacket.js +++ /dev/null @@ -1,12 +0,0 @@ -module.exports = ComQuitPacket; -function ComQuitPacket() { - this.command = 0x01; -} - -ComQuitPacket.prototype.parse = function parse(parser) { - this.command = parser.parseUnsignedNumber(1); -}; - -ComQuitPacket.prototype.write = function write(writer) { - writer.writeUnsignedNumber(1, this.command); -}; diff --git a/node_modules/mysql/lib/protocol/packets/ComStatisticsPacket.js b/node_modules/mysql/lib/protocol/packets/ComStatisticsPacket.js deleted file mode 100644 index 5e3913e..0000000 --- a/node_modules/mysql/lib/protocol/packets/ComStatisticsPacket.js +++ /dev/null @@ -1,12 +0,0 @@ -module.exports = ComStatisticsPacket; -function ComStatisticsPacket() { - this.command = 0x09; -} - -ComStatisticsPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, this.command); -}; - -ComStatisticsPacket.prototype.parse = function(parser) { - this.command = parser.parseUnsignedNumber(1); -}; diff --git a/node_modules/mysql/lib/protocol/packets/EmptyPacket.js b/node_modules/mysql/lib/protocol/packets/EmptyPacket.js deleted file mode 100644 index 27dd686..0000000 --- a/node_modules/mysql/lib/protocol/packets/EmptyPacket.js +++ /dev/null @@ -1,9 +0,0 @@ -module.exports = EmptyPacket; -function EmptyPacket() { -} - -EmptyPacket.prototype.parse = function parse() { -}; - -EmptyPacket.prototype.write = function write() { -}; diff --git a/node_modules/mysql/lib/protocol/packets/EofPacket.js b/node_modules/mysql/lib/protocol/packets/EofPacket.js deleted file mode 100644 index b80ca5e..0000000 --- a/node_modules/mysql/lib/protocol/packets/EofPacket.js +++ /dev/null @@ -1,25 +0,0 @@ -module.exports = EofPacket; -function EofPacket(options) { - options = options || {}; - - this.fieldCount = undefined; - this.warningCount = options.warningCount; - this.serverStatus = options.serverStatus; - this.protocol41 = options.protocol41; -} - -EofPacket.prototype.parse = function(parser) { - this.fieldCount = parser.parseUnsignedNumber(1); - if (this.protocol41) { - this.warningCount = parser.parseUnsignedNumber(2); - this.serverStatus = parser.parseUnsignedNumber(2); - } -}; - -EofPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, 0xfe); - if (this.protocol41) { - writer.writeUnsignedNumber(2, this.warningCount); - writer.writeUnsignedNumber(2, this.serverStatus); - } -}; diff --git a/node_modules/mysql/lib/protocol/packets/ErrorPacket.js b/node_modules/mysql/lib/protocol/packets/ErrorPacket.js deleted file mode 100644 index e03de00..0000000 --- a/node_modules/mysql/lib/protocol/packets/ErrorPacket.js +++ /dev/null @@ -1,35 +0,0 @@ -module.exports = ErrorPacket; -function ErrorPacket(options) { - options = options || {}; - - this.fieldCount = options.fieldCount; - this.errno = options.errno; - this.sqlStateMarker = options.sqlStateMarker; - this.sqlState = options.sqlState; - this.message = options.message; -} - -ErrorPacket.prototype.parse = function(parser) { - this.fieldCount = parser.parseUnsignedNumber(1); - this.errno = parser.parseUnsignedNumber(2); - - // sqlStateMarker ('#' = 0x23) indicates error packet format - if (parser.peak() === 0x23) { - this.sqlStateMarker = parser.parseString(1); - this.sqlState = parser.parseString(5); - } - - this.message = parser.parsePacketTerminatedString(); -}; - -ErrorPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, 0xff); - writer.writeUnsignedNumber(2, this.errno); - - if (this.sqlStateMarker) { - writer.writeString(this.sqlStateMarker); - writer.writeString(this.sqlState); - } - - writer.writeString(this.message); -}; diff --git a/node_modules/mysql/lib/protocol/packets/Field.js b/node_modules/mysql/lib/protocol/packets/Field.js deleted file mode 100644 index a5d58ed..0000000 --- a/node_modules/mysql/lib/protocol/packets/Field.js +++ /dev/null @@ -1,26 +0,0 @@ -var Types = require('../constants/types'); - -module.exports = Field; -function Field(options) { - options = options || {}; - - this.parser = options.parser; - this.packet = options.packet; - this.db = options.packet.db; - this.table = options.packet.table; - this.name = options.packet.name; - this.type = Types[options.packet.type]; - this.length = options.packet.length; -} - -Field.prototype.string = function () { - return this.parser.parseLengthCodedString(); -}; - -Field.prototype.buffer = function () { - return this.parser.parseLengthCodedBuffer(); -}; - -Field.prototype.geometry = function () { - return this.parser.parseGeometryValue(); -}; diff --git a/node_modules/mysql/lib/protocol/packets/FieldPacket.js b/node_modules/mysql/lib/protocol/packets/FieldPacket.js deleted file mode 100644 index 12cfed1..0000000 --- a/node_modules/mysql/lib/protocol/packets/FieldPacket.js +++ /dev/null @@ -1,93 +0,0 @@ -module.exports = FieldPacket; -function FieldPacket(options) { - options = options || {}; - - this.catalog = options.catalog; - this.db = options.db; - this.table = options.table; - this.orgTable = options.orgTable; - this.name = options.name; - this.orgName = options.orgName; - this.charsetNr = options.charsetNr; - this.length = options.length; - this.type = options.type; - this.flags = options.flags; - this.decimals = options.decimals; - this.default = options.default; - this.zeroFill = options.zeroFill; - this.protocol41 = options.protocol41; -} - -FieldPacket.prototype.parse = function(parser) { - if (this.protocol41) { - this.catalog = parser.parseLengthCodedString(); - this.db = parser.parseLengthCodedString(); - this.table = parser.parseLengthCodedString(); - this.orgTable = parser.parseLengthCodedString(); - this.name = parser.parseLengthCodedString(); - this.orgName = parser.parseLengthCodedString(); - - if (parser.parseLengthCodedNumber() !== 0x0c) { - var err = new TypeError('Received invalid field length'); - err.code = 'PARSER_INVALID_FIELD_LENGTH'; - throw err; - } - - this.charsetNr = parser.parseUnsignedNumber(2); - this.length = parser.parseUnsignedNumber(4); - this.type = parser.parseUnsignedNumber(1); - this.flags = parser.parseUnsignedNumber(2); - this.decimals = parser.parseUnsignedNumber(1); - - var filler = parser.parseBuffer(2); - if (filler[0] !== 0x0 || filler[1] !== 0x0) { - var err = new TypeError('Received invalid filler'); - err.code = 'PARSER_INVALID_FILLER'; - throw err; - } - - // parsed flags - this.zeroFill = (this.flags & 0x0040 ? true : false); - - if (parser.reachedPacketEnd()) { - return; - } - - this.default = parser.parseLengthCodedString(); - } else { - this.table = parser.parseLengthCodedString(); - this.name = parser.parseLengthCodedString(); - this.length = parser.parseUnsignedNumber(parser.parseUnsignedNumber(1)); - this.type = parser.parseUnsignedNumber(parser.parseUnsignedNumber(1)); - } -}; - -FieldPacket.prototype.write = function(writer) { - if (this.protocol41) { - writer.writeLengthCodedString(this.catalog); - writer.writeLengthCodedString(this.db); - writer.writeLengthCodedString(this.table); - writer.writeLengthCodedString(this.orgTable); - writer.writeLengthCodedString(this.name); - writer.writeLengthCodedString(this.orgName); - - writer.writeLengthCodedNumber(0x0c); - writer.writeUnsignedNumber(2, this.charsetNr || 0); - writer.writeUnsignedNumber(4, this.length || 0); - writer.writeUnsignedNumber(1, this.type || 0); - writer.writeUnsignedNumber(2, this.flags || 0); - writer.writeUnsignedNumber(1, this.decimals || 0); - writer.writeFiller(2); - - if (this.default !== undefined) { - writer.writeLengthCodedString(this.default); - } - } else { - writer.writeLengthCodedString(this.table); - writer.writeLengthCodedString(this.name); - writer.writeUnsignedNumber(1, 0x01); - writer.writeUnsignedNumber(1, this.length); - writer.writeUnsignedNumber(1, 0x01); - writer.writeUnsignedNumber(1, this.type); - } -}; diff --git a/node_modules/mysql/lib/protocol/packets/HandshakeInitializationPacket.js b/node_modules/mysql/lib/protocol/packets/HandshakeInitializationPacket.js deleted file mode 100644 index b251063..0000000 --- a/node_modules/mysql/lib/protocol/packets/HandshakeInitializationPacket.js +++ /dev/null @@ -1,103 +0,0 @@ -var Buffer = require('safe-buffer').Buffer; -var Client = require('../constants/client'); - -module.exports = HandshakeInitializationPacket; -function HandshakeInitializationPacket(options) { - options = options || {}; - - this.protocolVersion = options.protocolVersion; - this.serverVersion = options.serverVersion; - this.threadId = options.threadId; - this.scrambleBuff1 = options.scrambleBuff1; - this.filler1 = options.filler1; - this.serverCapabilities1 = options.serverCapabilities1; - this.serverLanguage = options.serverLanguage; - this.serverStatus = options.serverStatus; - this.serverCapabilities2 = options.serverCapabilities2; - this.scrambleLength = options.scrambleLength; - this.filler2 = options.filler2; - this.scrambleBuff2 = options.scrambleBuff2; - this.filler3 = options.filler3; - this.pluginData = options.pluginData; - this.protocol41 = options.protocol41; - - if (this.protocol41) { - // force set the bit in serverCapabilities1 - this.serverCapabilities1 |= Client.CLIENT_PROTOCOL_41; - } -} - -HandshakeInitializationPacket.prototype.parse = function(parser) { - this.protocolVersion = parser.parseUnsignedNumber(1); - this.serverVersion = parser.parseNullTerminatedString(); - this.threadId = parser.parseUnsignedNumber(4); - this.scrambleBuff1 = parser.parseBuffer(8); - this.filler1 = parser.parseFiller(1); - this.serverCapabilities1 = parser.parseUnsignedNumber(2); - this.serverLanguage = parser.parseUnsignedNumber(1); - this.serverStatus = parser.parseUnsignedNumber(2); - - this.protocol41 = (this.serverCapabilities1 & (1 << 9)) > 0; - - if (this.protocol41) { - this.serverCapabilities2 = parser.parseUnsignedNumber(2); - this.scrambleLength = parser.parseUnsignedNumber(1); - this.filler2 = parser.parseFiller(10); - // scrambleBuff2 should be 0x00 terminated, but sphinx does not do this - // so we assume scrambleBuff2 to be 12 byte and treat the next byte as a - // filler byte. - this.scrambleBuff2 = parser.parseBuffer(12); - this.filler3 = parser.parseFiller(1); - } else { - this.filler2 = parser.parseFiller(13); - } - - if (parser.reachedPacketEnd()) { - return; - } - - // According to the docs this should be 0x00 terminated, but MariaDB does - // not do this, so we assume this string to be packet terminated. - this.pluginData = parser.parsePacketTerminatedString(); - - // However, if there is a trailing '\0', strip it - var lastChar = this.pluginData.length - 1; - if (this.pluginData[lastChar] === '\0') { - this.pluginData = this.pluginData.substr(0, lastChar); - } -}; - -HandshakeInitializationPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, this.protocolVersion); - writer.writeNullTerminatedString(this.serverVersion); - writer.writeUnsignedNumber(4, this.threadId); - writer.writeBuffer(this.scrambleBuff1); - writer.writeFiller(1); - writer.writeUnsignedNumber(2, this.serverCapabilities1); - writer.writeUnsignedNumber(1, this.serverLanguage); - writer.writeUnsignedNumber(2, this.serverStatus); - if (this.protocol41) { - writer.writeUnsignedNumber(2, this.serverCapabilities2); - writer.writeUnsignedNumber(1, this.scrambleLength); - writer.writeFiller(10); - } - writer.writeNullTerminatedBuffer(this.scrambleBuff2); - - if (this.pluginData !== undefined) { - writer.writeNullTerminatedString(this.pluginData); - } -}; - -HandshakeInitializationPacket.prototype.scrambleBuff = function() { - var buffer = null; - - if (typeof this.scrambleBuff2 === 'undefined') { - buffer = Buffer.from(this.scrambleBuff1); - } else { - buffer = Buffer.allocUnsafe(this.scrambleBuff1.length + this.scrambleBuff2.length); - this.scrambleBuff1.copy(buffer, 0); - this.scrambleBuff2.copy(buffer, this.scrambleBuff1.length); - } - - return buffer; -}; diff --git a/node_modules/mysql/lib/protocol/packets/LocalDataFilePacket.js b/node_modules/mysql/lib/protocol/packets/LocalDataFilePacket.js deleted file mode 100644 index af7aaa0..0000000 --- a/node_modules/mysql/lib/protocol/packets/LocalDataFilePacket.js +++ /dev/null @@ -1,15 +0,0 @@ -module.exports = LocalDataFilePacket; - -/** - * Create a new LocalDataFilePacket - * @constructor - * @param {Buffer} data The data contents of the packet - * @public - */ -function LocalDataFilePacket(data) { - this.data = data; -} - -LocalDataFilePacket.prototype.write = function(writer) { - writer.writeBuffer(this.data); -}; diff --git a/node_modules/mysql/lib/protocol/packets/LocalInfileRequestPacket.js b/node_modules/mysql/lib/protocol/packets/LocalInfileRequestPacket.js deleted file mode 100644 index b1f68ba..0000000 --- a/node_modules/mysql/lib/protocol/packets/LocalInfileRequestPacket.js +++ /dev/null @@ -1,21 +0,0 @@ -module.exports = LocalInfileRequestPacket; -function LocalInfileRequestPacket(options) { - options = options || {}; - - this.filename = options.filename; -} - -LocalInfileRequestPacket.prototype.parse = function parse(parser) { - if (parser.parseLengthCodedNumber() !== null) { - var err = new TypeError('Received invalid field length'); - err.code = 'PARSER_INVALID_FIELD_LENGTH'; - throw err; - } - - this.filename = parser.parsePacketTerminatedString(); -}; - -LocalInfileRequestPacket.prototype.write = function write(writer) { - writer.writeLengthCodedNumber(null); - writer.writeString(this.filename); -}; diff --git a/node_modules/mysql/lib/protocol/packets/OkPacket.js b/node_modules/mysql/lib/protocol/packets/OkPacket.js deleted file mode 100644 index 7caf3b0..0000000 --- a/node_modules/mysql/lib/protocol/packets/OkPacket.js +++ /dev/null @@ -1,44 +0,0 @@ - -// Language-neutral expression to match ER_UPDATE_INFO -var ER_UPDATE_INFO_REGEXP = /^[^:0-9]+: [0-9]+[^:0-9]+: ([0-9]+)[^:0-9]+: [0-9]+[^:0-9]*$/; - -module.exports = OkPacket; -function OkPacket(options) { - options = options || {}; - - this.fieldCount = undefined; - this.affectedRows = undefined; - this.insertId = undefined; - this.serverStatus = undefined; - this.warningCount = undefined; - this.message = undefined; - this.protocol41 = options.protocol41; -} - -OkPacket.prototype.parse = function(parser) { - this.fieldCount = parser.parseUnsignedNumber(1); - this.affectedRows = parser.parseLengthCodedNumber(); - this.insertId = parser.parseLengthCodedNumber(); - if (this.protocol41) { - this.serverStatus = parser.parseUnsignedNumber(2); - this.warningCount = parser.parseUnsignedNumber(2); - } - this.message = parser.parsePacketTerminatedString(); - this.changedRows = 0; - - var m = ER_UPDATE_INFO_REGEXP.exec(this.message); - if (m !== null) { - this.changedRows = parseInt(m[1], 10); - } -}; - -OkPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, 0x00); - writer.writeLengthCodedNumber(this.affectedRows || 0); - writer.writeLengthCodedNumber(this.insertId || 0); - if (this.protocol41) { - writer.writeUnsignedNumber(2, this.serverStatus || 0); - writer.writeUnsignedNumber(2, this.warningCount || 0); - } - writer.writeString(this.message); -}; diff --git a/node_modules/mysql/lib/protocol/packets/OldPasswordPacket.js b/node_modules/mysql/lib/protocol/packets/OldPasswordPacket.js deleted file mode 100644 index a729510..0000000 --- a/node_modules/mysql/lib/protocol/packets/OldPasswordPacket.js +++ /dev/null @@ -1,14 +0,0 @@ -module.exports = OldPasswordPacket; -function OldPasswordPacket(options) { - options = options || {}; - - this.scrambleBuff = options.scrambleBuff; -} - -OldPasswordPacket.prototype.parse = function(parser) { - this.scrambleBuff = parser.parsePacketTerminatedBuffer(); -}; - -OldPasswordPacket.prototype.write = function(writer) { - writer.writeBuffer(this.scrambleBuff); -}; diff --git a/node_modules/mysql/lib/protocol/packets/ResultSetHeaderPacket.js b/node_modules/mysql/lib/protocol/packets/ResultSetHeaderPacket.js deleted file mode 100644 index a097ea1..0000000 --- a/node_modules/mysql/lib/protocol/packets/ResultSetHeaderPacket.js +++ /dev/null @@ -1,14 +0,0 @@ -module.exports = ResultSetHeaderPacket; -function ResultSetHeaderPacket(options) { - options = options || {}; - - this.fieldCount = options.fieldCount; -} - -ResultSetHeaderPacket.prototype.parse = function(parser) { - this.fieldCount = parser.parseLengthCodedNumber(); -}; - -ResultSetHeaderPacket.prototype.write = function(writer) { - writer.writeLengthCodedNumber(this.fieldCount); -}; diff --git a/node_modules/mysql/lib/protocol/packets/RowDataPacket.js b/node_modules/mysql/lib/protocol/packets/RowDataPacket.js deleted file mode 100644 index b8ec4b8..0000000 --- a/node_modules/mysql/lib/protocol/packets/RowDataPacket.js +++ /dev/null @@ -1,130 +0,0 @@ -var Types = require('../constants/types'); -var Charsets = require('../constants/charsets'); -var Field = require('./Field'); -var IEEE_754_BINARY_64_PRECISION = Math.pow(2, 53); - -module.exports = RowDataPacket; -function RowDataPacket() { -} - -Object.defineProperty(RowDataPacket.prototype, 'parse', { - configurable : true, - enumerable : false, - value : parse -}); - -Object.defineProperty(RowDataPacket.prototype, '_typeCast', { - configurable : true, - enumerable : false, - value : typeCast -}); - -function parse(parser, fieldPackets, typeCast, nestTables, connection) { - var self = this; - var next = function () { - return self._typeCast(fieldPacket, parser, connection.config.timezone, connection.config.supportBigNumbers, connection.config.bigNumberStrings, connection.config.dateStrings); - }; - - for (var i = 0; i < fieldPackets.length; i++) { - var fieldPacket = fieldPackets[i]; - var value; - - if (typeof typeCast === 'function') { - value = typeCast.apply(connection, [ new Field({ packet: fieldPacket, parser: parser }), next ]); - } else { - value = (typeCast) - ? this._typeCast(fieldPacket, parser, connection.config.timezone, connection.config.supportBigNumbers, connection.config.bigNumberStrings, connection.config.dateStrings) - : ( (fieldPacket.charsetNr === Charsets.BINARY) - ? parser.parseLengthCodedBuffer() - : parser.parseLengthCodedString() ); - } - - if (typeof nestTables === 'string' && nestTables.length) { - this[fieldPacket.table + nestTables + fieldPacket.name] = value; - } else if (nestTables) { - this[fieldPacket.table] = this[fieldPacket.table] || {}; - this[fieldPacket.table][fieldPacket.name] = value; - } else { - this[fieldPacket.name] = value; - } - } -} - -function typeCast(field, parser, timeZone, supportBigNumbers, bigNumberStrings, dateStrings) { - var numberString; - - switch (field.type) { - case Types.TIMESTAMP: - case Types.TIMESTAMP2: - case Types.DATE: - case Types.DATETIME: - case Types.DATETIME2: - case Types.NEWDATE: - var dateString = parser.parseLengthCodedString(); - - if (typeMatch(field.type, dateStrings)) { - return dateString; - } - - if (dateString === null) { - return null; - } - - var originalString = dateString; - if (field.type === Types.DATE) { - dateString += ' 00:00:00'; - } - - if (timeZone !== 'local') { - dateString += ' ' + timeZone; - } - - var dt = new Date(dateString); - if (isNaN(dt.getTime())) { - return originalString; - } - - return dt; - case Types.TINY: - case Types.SHORT: - case Types.LONG: - case Types.INT24: - case Types.YEAR: - case Types.FLOAT: - case Types.DOUBLE: - numberString = parser.parseLengthCodedString(); - return (numberString === null || (field.zeroFill && numberString[0] === '0')) - ? numberString : Number(numberString); - case Types.NEWDECIMAL: - case Types.LONGLONG: - numberString = parser.parseLengthCodedString(); - return (numberString === null || (field.zeroFill && numberString[0] === '0')) - ? numberString - : ((supportBigNumbers && (bigNumberStrings || (Number(numberString) >= IEEE_754_BINARY_64_PRECISION) || Number(numberString) <= -IEEE_754_BINARY_64_PRECISION)) - ? numberString - : Number(numberString)); - case Types.BIT: - return parser.parseLengthCodedBuffer(); - case Types.STRING: - case Types.VAR_STRING: - case Types.TINY_BLOB: - case Types.MEDIUM_BLOB: - case Types.LONG_BLOB: - case Types.BLOB: - return (field.charsetNr === Charsets.BINARY) - ? parser.parseLengthCodedBuffer() - : parser.parseLengthCodedString(); - case Types.GEOMETRY: - return parser.parseGeometryValue(); - default: - return parser.parseLengthCodedString(); - } -} - -function typeMatch(type, list) { - if (Array.isArray(list)) { - return list.indexOf(Types[type]) !== -1; - } else { - return Boolean(list); - } -} diff --git a/node_modules/mysql/lib/protocol/packets/SSLRequestPacket.js b/node_modules/mysql/lib/protocol/packets/SSLRequestPacket.js deleted file mode 100644 index a57cfc1..0000000 --- a/node_modules/mysql/lib/protocol/packets/SSLRequestPacket.js +++ /dev/null @@ -1,27 +0,0 @@ -// http://dev.mysql.com/doc/internals/en/ssl.html -// http://dev.mysql.com/doc/internals/en/connection-phase-packets.html#packet-Protocol::SSLRequest - -var ClientConstants = require('../constants/client'); - -module.exports = SSLRequestPacket; - -function SSLRequestPacket(options) { - options = options || {}; - this.clientFlags = options.clientFlags | ClientConstants.CLIENT_SSL; - this.maxPacketSize = options.maxPacketSize; - this.charsetNumber = options.charsetNumber; -} - -SSLRequestPacket.prototype.parse = function(parser) { - // TODO: check SSLRequest packet v41 vs pre v41 - this.clientFlags = parser.parseUnsignedNumber(4); - this.maxPacketSize = parser.parseUnsignedNumber(4); - this.charsetNumber = parser.parseUnsignedNumber(1); -}; - -SSLRequestPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(4, this.clientFlags); - writer.writeUnsignedNumber(4, this.maxPacketSize); - writer.writeUnsignedNumber(1, this.charsetNumber); - writer.writeFiller(23); -}; diff --git a/node_modules/mysql/lib/protocol/packets/StatisticsPacket.js b/node_modules/mysql/lib/protocol/packets/StatisticsPacket.js deleted file mode 100644 index 5f70b3b..0000000 --- a/node_modules/mysql/lib/protocol/packets/StatisticsPacket.js +++ /dev/null @@ -1,20 +0,0 @@ -module.exports = StatisticsPacket; -function StatisticsPacket() { - this.message = undefined; -} - -StatisticsPacket.prototype.parse = function(parser) { - this.message = parser.parsePacketTerminatedString(); - - var items = this.message.split(/\s\s/); - for (var i = 0; i < items.length; i++) { - var m = items[i].match(/^(.+)\:\s+(.+)$/); - if (m !== null) { - this[m[1].toLowerCase().replace(/\s/g, '_')] = Number(m[2]); - } - } -}; - -StatisticsPacket.prototype.write = function(writer) { - writer.writeString(this.message); -}; diff --git a/node_modules/mysql/lib/protocol/packets/UseOldPasswordPacket.js b/node_modules/mysql/lib/protocol/packets/UseOldPasswordPacket.js deleted file mode 100644 index d73bf44..0000000 --- a/node_modules/mysql/lib/protocol/packets/UseOldPasswordPacket.js +++ /dev/null @@ -1,14 +0,0 @@ -module.exports = UseOldPasswordPacket; -function UseOldPasswordPacket(options) { - options = options || {}; - - this.firstByte = options.firstByte || 0xfe; -} - -UseOldPasswordPacket.prototype.parse = function(parser) { - this.firstByte = parser.parseUnsignedNumber(1); -}; - -UseOldPasswordPacket.prototype.write = function(writer) { - writer.writeUnsignedNumber(1, this.firstByte); -}; diff --git a/node_modules/mysql/lib/protocol/packets/index.js b/node_modules/mysql/lib/protocol/packets/index.js deleted file mode 100644 index 5e93524..0000000 --- a/node_modules/mysql/lib/protocol/packets/index.js +++ /dev/null @@ -1,23 +0,0 @@ -exports.AuthSwitchRequestPacket = require('./AuthSwitchRequestPacket'); -exports.AuthSwitchResponsePacket = require('./AuthSwitchResponsePacket'); -exports.ClientAuthenticationPacket = require('./ClientAuthenticationPacket'); -exports.ComChangeUserPacket = require('./ComChangeUserPacket'); -exports.ComPingPacket = require('./ComPingPacket'); -exports.ComQueryPacket = require('./ComQueryPacket'); -exports.ComQuitPacket = require('./ComQuitPacket'); -exports.ComStatisticsPacket = require('./ComStatisticsPacket'); -exports.EmptyPacket = require('./EmptyPacket'); -exports.EofPacket = require('./EofPacket'); -exports.ErrorPacket = require('./ErrorPacket'); -exports.Field = require('./Field'); -exports.FieldPacket = require('./FieldPacket'); -exports.HandshakeInitializationPacket = require('./HandshakeInitializationPacket'); -exports.LocalDataFilePacket = require('./LocalDataFilePacket'); -exports.LocalInfileRequestPacket = require('./LocalInfileRequestPacket'); -exports.OkPacket = require('./OkPacket'); -exports.OldPasswordPacket = require('./OldPasswordPacket'); -exports.ResultSetHeaderPacket = require('./ResultSetHeaderPacket'); -exports.RowDataPacket = require('./RowDataPacket'); -exports.SSLRequestPacket = require('./SSLRequestPacket'); -exports.StatisticsPacket = require('./StatisticsPacket'); -exports.UseOldPasswordPacket = require('./UseOldPasswordPacket'); diff --git a/node_modules/mysql/lib/protocol/sequences/ChangeUser.js b/node_modules/mysql/lib/protocol/sequences/ChangeUser.js deleted file mode 100644 index e1cc1fb..0000000 --- a/node_modules/mysql/lib/protocol/sequences/ChangeUser.js +++ /dev/null @@ -1,67 +0,0 @@ -var Sequence = require('./Sequence'); -var Util = require('util'); -var Packets = require('../packets'); -var Auth = require('../Auth'); - -module.exports = ChangeUser; -Util.inherits(ChangeUser, Sequence); -function ChangeUser(options, callback) { - Sequence.call(this, options, callback); - - this._user = options.user; - this._password = options.password; - this._database = options.database; - this._charsetNumber = options.charsetNumber; - this._currentConfig = options.currentConfig; -} - -ChangeUser.prototype.determinePacket = function determinePacket(firstByte) { - switch (firstByte) { - case 0xfe: return Packets.AuthSwitchRequestPacket; - case 0xff: return Packets.ErrorPacket; - default: return undefined; - } -}; - -ChangeUser.prototype.start = function(handshakeInitializationPacket) { - var scrambleBuff = handshakeInitializationPacket.scrambleBuff(); - scrambleBuff = Auth.token(this._password, scrambleBuff); - - var packet = new Packets.ComChangeUserPacket({ - user : this._user, - scrambleBuff : scrambleBuff, - database : this._database, - charsetNumber : this._charsetNumber - }); - - this._currentConfig.user = this._user; - this._currentConfig.password = this._password; - this._currentConfig.database = this._database; - this._currentConfig.charsetNumber = this._charsetNumber; - - this.emit('packet', packet); -}; - -ChangeUser.prototype['AuthSwitchRequestPacket'] = function (packet) { - var name = packet.authMethodName; - var data = Auth.auth(name, packet.authMethodData, { - password: this._password - }); - - if (data !== undefined) { - this.emit('packet', new Packets.AuthSwitchResponsePacket({ - data: data - })); - } else { - var err = new Error('MySQL is requesting the ' + name + ' authentication method, which is not supported.'); - err.code = 'UNSUPPORTED_AUTH_METHOD'; - err.fatal = true; - this.end(err); - } -}; - -ChangeUser.prototype['ErrorPacket'] = function(packet) { - var err = this._packetToError(packet); - err.fatal = true; - this.end(err); -}; diff --git a/node_modules/mysql/lib/protocol/sequences/Handshake.js b/node_modules/mysql/lib/protocol/sequences/Handshake.js deleted file mode 100644 index 8fad0fc..0000000 --- a/node_modules/mysql/lib/protocol/sequences/Handshake.js +++ /dev/null @@ -1,126 +0,0 @@ -var Sequence = require('./Sequence'); -var Util = require('util'); -var Packets = require('../packets'); -var Auth = require('../Auth'); -var ClientConstants = require('../constants/client'); - -module.exports = Handshake; -Util.inherits(Handshake, Sequence); -function Handshake(options, callback) { - Sequence.call(this, options, callback); - - options = options || {}; - - this._config = options.config; - this._handshakeInitializationPacket = null; -} - -Handshake.prototype.determinePacket = function determinePacket(firstByte, parser) { - if (firstByte === 0xff) { - return Packets.ErrorPacket; - } - - if (!this._handshakeInitializationPacket) { - return Packets.HandshakeInitializationPacket; - } - - if (firstByte === 0xfe) { - return (parser.packetLength() === 1) - ? Packets.UseOldPasswordPacket - : Packets.AuthSwitchRequestPacket; - } - - return undefined; -}; - -Handshake.prototype['AuthSwitchRequestPacket'] = function (packet) { - var name = packet.authMethodName; - var data = Auth.auth(name, packet.authMethodData, { - password: this._config.password - }); - - if (data !== undefined) { - this.emit('packet', new Packets.AuthSwitchResponsePacket({ - data: data - })); - } else { - var err = new Error('MySQL is requesting the ' + name + ' authentication method, which is not supported.'); - err.code = 'UNSUPPORTED_AUTH_METHOD'; - err.fatal = true; - this.end(err); - } -}; - -Handshake.prototype['HandshakeInitializationPacket'] = function(packet) { - this._handshakeInitializationPacket = packet; - - this._config.protocol41 = packet.protocol41; - - var serverSSLSupport = packet.serverCapabilities1 & ClientConstants.CLIENT_SSL; - - if (this._config.ssl) { - if (!serverSSLSupport) { - var err = new Error('Server does not support secure connection'); - - err.code = 'HANDSHAKE_NO_SSL_SUPPORT'; - err.fatal = true; - - this.end(err); - return; - } - - this._config.clientFlags |= ClientConstants.CLIENT_SSL; - this.emit('packet', new Packets.SSLRequestPacket({ - clientFlags : this._config.clientFlags, - maxPacketSize : this._config.maxPacketSize, - charsetNumber : this._config.charsetNumber - })); - this.emit('start-tls'); - } else { - this._sendCredentials(); - } -}; - -Handshake.prototype._tlsUpgradeCompleteHandler = function() { - this._sendCredentials(); -}; - -Handshake.prototype._sendCredentials = function() { - var packet = this._handshakeInitializationPacket; - this.emit('packet', new Packets.ClientAuthenticationPacket({ - clientFlags : this._config.clientFlags, - maxPacketSize : this._config.maxPacketSize, - charsetNumber : this._config.charsetNumber, - user : this._config.user, - database : this._config.database, - protocol41 : packet.protocol41, - scrambleBuff : (packet.protocol41) - ? Auth.token(this._config.password, packet.scrambleBuff()) - : Auth.scramble323(packet.scrambleBuff(), this._config.password) - })); -}; - -Handshake.prototype['UseOldPasswordPacket'] = function() { - if (!this._config.insecureAuth) { - var err = new Error( - 'MySQL server is requesting the old and insecure pre-4.1 auth mechanism. ' + - 'Upgrade the user password or use the {insecureAuth: true} option.' - ); - - err.code = 'HANDSHAKE_INSECURE_AUTH'; - err.fatal = true; - - this.end(err); - return; - } - - this.emit('packet', new Packets.OldPasswordPacket({ - scrambleBuff: Auth.scramble323(this._handshakeInitializationPacket.scrambleBuff(), this._config.password) - })); -}; - -Handshake.prototype['ErrorPacket'] = function(packet) { - var err = this._packetToError(packet, true); - err.fatal = true; - this.end(err); -}; diff --git a/node_modules/mysql/lib/protocol/sequences/Ping.js b/node_modules/mysql/lib/protocol/sequences/Ping.js deleted file mode 100644 index 230f3c1..0000000 --- a/node_modules/mysql/lib/protocol/sequences/Ping.js +++ /dev/null @@ -1,19 +0,0 @@ -var Sequence = require('./Sequence'); -var Util = require('util'); -var Packets = require('../packets'); - -module.exports = Ping; -Util.inherits(Ping, Sequence); - -function Ping(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - Sequence.call(this, options, callback); -} - -Ping.prototype.start = function() { - this.emit('packet', new Packets.ComPingPacket()); -}; diff --git a/node_modules/mysql/lib/protocol/sequences/Query.js b/node_modules/mysql/lib/protocol/sequences/Query.js deleted file mode 100644 index b763295..0000000 --- a/node_modules/mysql/lib/protocol/sequences/Query.js +++ /dev/null @@ -1,228 +0,0 @@ -var ClientConstants = require('../constants/client'); -var fs = require('fs'); -var Packets = require('../packets'); -var ResultSet = require('../ResultSet'); -var Sequence = require('./Sequence'); -var ServerStatus = require('../constants/server_status'); -var Readable = require('readable-stream'); -var Util = require('util'); - -module.exports = Query; -Util.inherits(Query, Sequence); -function Query(options, callback) { - Sequence.call(this, options, callback); - - this.sql = options.sql; - this.values = options.values; - this.typeCast = (options.typeCast === undefined) - ? true - : options.typeCast; - this.nestTables = options.nestTables || false; - - this._resultSet = null; - this._results = []; - this._fields = []; - this._index = 0; - this._loadError = null; -} - -Query.prototype.start = function() { - this.emit('packet', new Packets.ComQueryPacket(this.sql)); -}; - -Query.prototype.determinePacket = function determinePacket(byte, parser) { - var resultSet = this._resultSet; - - if (!resultSet) { - switch (byte) { - case 0x00: return Packets.OkPacket; - case 0xfb: return Packets.LocalInfileRequestPacket; - case 0xff: return Packets.ErrorPacket; - default: return Packets.ResultSetHeaderPacket; - } - } - - if (resultSet.eofPackets.length === 0) { - return (resultSet.fieldPackets.length < resultSet.resultSetHeaderPacket.fieldCount) - ? Packets.FieldPacket - : Packets.EofPacket; - } - - if (byte === 0xff) { - return Packets.ErrorPacket; - } - - if (byte === 0xfe && parser.packetLength() < 9) { - return Packets.EofPacket; - } - - return Packets.RowDataPacket; -}; - -Query.prototype['OkPacket'] = function(packet) { - // try...finally for exception safety - try { - if (!this._callback) { - this.emit('result', packet, this._index); - } else { - this._results.push(packet); - this._fields.push(undefined); - } - } finally { - this._index++; - this._resultSet = null; - this._handleFinalResultPacket(packet); - } -}; - -Query.prototype['ErrorPacket'] = function(packet) { - var err = this._packetToError(packet); - - var results = (this._results.length > 0) - ? this._results - : undefined; - - var fields = (this._fields.length > 0) - ? this._fields - : undefined; - - err.index = this._index; - err.sql = this.sql; - - this.end(err, results, fields); -}; - -Query.prototype['LocalInfileRequestPacket'] = function(packet) { - if (this._connection.config.clientFlags & ClientConstants.CLIENT_LOCAL_FILES) { - this._sendLocalDataFile(packet.filename); - } else { - this._loadError = new Error('Load local files command is disabled'); - this._loadError.code = 'LOCAL_FILES_DISABLED'; - this._loadError.fatal = false; - - this.emit('packet', new Packets.EmptyPacket()); - } -}; - -Query.prototype['ResultSetHeaderPacket'] = function(packet) { - this._resultSet = new ResultSet(packet); -}; - -Query.prototype['FieldPacket'] = function(packet) { - this._resultSet.fieldPackets.push(packet); -}; - -Query.prototype['EofPacket'] = function(packet) { - this._resultSet.eofPackets.push(packet); - - if (this._resultSet.eofPackets.length === 1 && !this._callback) { - this.emit('fields', this._resultSet.fieldPackets, this._index); - } - - if (this._resultSet.eofPackets.length !== 2) { - return; - } - - if (this._callback) { - this._results.push(this._resultSet.rows); - this._fields.push(this._resultSet.fieldPackets); - } - - this._index++; - this._resultSet = null; - this._handleFinalResultPacket(packet); -}; - -Query.prototype._handleFinalResultPacket = function(packet) { - if (packet.serverStatus & ServerStatus.SERVER_MORE_RESULTS_EXISTS) { - return; - } - - var results = (this._results.length > 1) - ? this._results - : this._results[0]; - - var fields = (this._fields.length > 1) - ? this._fields - : this._fields[0]; - - this.end(this._loadError, results, fields); -}; - -Query.prototype['RowDataPacket'] = function(packet, parser, connection) { - packet.parse(parser, this._resultSet.fieldPackets, this.typeCast, this.nestTables, connection); - - if (this._callback) { - this._resultSet.rows.push(packet); - } else { - this.emit('result', packet, this._index); - } -}; - -Query.prototype._sendLocalDataFile = function(path) { - var self = this; - var localStream = fs.createReadStream(path, { - flag : 'r', - encoding : null, - autoClose : true - }); - - this.on('pause', function () { - localStream.pause(); - }); - - this.on('resume', function () { - localStream.resume(); - }); - - localStream.on('data', function (data) { - self.emit('packet', new Packets.LocalDataFilePacket(data)); - }); - - localStream.on('error', function (err) { - self._loadError = err; - localStream.emit('end'); - }); - - localStream.on('end', function () { - self.emit('packet', new Packets.EmptyPacket()); - }); -}; - -Query.prototype.stream = function(options) { - var self = this; - - options = options || {}; - options.objectMode = true; - - var stream = new Readable(options); - - stream._read = function() { - self._connection && self._connection.resume(); - }; - - stream.once('end', function() { - process.nextTick(function () { - stream.emit('close'); - }); - }); - - this.on('result', function(row, i) { - if (!stream.push(row)) self._connection.pause(); - stream.emit('result', row, i); // replicate old emitter - }); - - this.on('error', function(err) { - stream.emit('error', err); // Pass on any errors - }); - - this.on('end', function() { - stream.push(null); // pushing null, indicating EOF - }); - - this.on('fields', function(fields, i) { - stream.emit('fields', fields, i); // replicate old emitter - }); - - return stream; -}; diff --git a/node_modules/mysql/lib/protocol/sequences/Quit.js b/node_modules/mysql/lib/protocol/sequences/Quit.js deleted file mode 100644 index 3c34c58..0000000 --- a/node_modules/mysql/lib/protocol/sequences/Quit.js +++ /dev/null @@ -1,40 +0,0 @@ -var Sequence = require('./Sequence'); -var Util = require('util'); -var Packets = require('../packets'); - -module.exports = Quit; -Util.inherits(Quit, Sequence); -function Quit(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - Sequence.call(this, options, callback); - - this._started = false; -} - -Quit.prototype.end = function end(err) { - if (this._ended) { - return; - } - - if (!this._started) { - Sequence.prototype.end.call(this, err); - return; - } - - if (err && err.code === 'ECONNRESET' && err.syscall === 'read') { - // Ignore read errors after packet sent - Sequence.prototype.end.call(this); - return; - } - - Sequence.prototype.end.call(this, err); -}; - -Quit.prototype.start = function() { - this._started = true; - this.emit('packet', new Packets.ComQuitPacket()); -}; diff --git a/node_modules/mysql/lib/protocol/sequences/Sequence.js b/node_modules/mysql/lib/protocol/sequences/Sequence.js deleted file mode 100644 index de82dc2..0000000 --- a/node_modules/mysql/lib/protocol/sequences/Sequence.js +++ /dev/null @@ -1,125 +0,0 @@ -var Util = require('util'); -var EventEmitter = require('events').EventEmitter; -var Packets = require('../packets'); -var ErrorConstants = require('../constants/errors'); -var Timer = require('../Timer'); - -// istanbul ignore next: Node.js < 0.10 not covered -var listenerCount = EventEmitter.listenerCount - || function(emitter, type){ return emitter.listeners(type).length; }; - -var LONG_STACK_DELIMITER = '\n --------------------\n'; - -module.exports = Sequence; -Util.inherits(Sequence, EventEmitter); -function Sequence(options, callback) { - if (typeof options === 'function') { - callback = options; - options = {}; - } - - EventEmitter.call(this); - - options = options || {}; - - this._callback = callback; - this._callSite = null; - this._ended = false; - this._timeout = options.timeout; - this._timer = new Timer(this); -} - -Sequence.determinePacket = function(byte) { - switch (byte) { - case 0x00: return Packets.OkPacket; - case 0xfe: return Packets.EofPacket; - case 0xff: return Packets.ErrorPacket; - default: return undefined; - } -}; - -Sequence.prototype.hasErrorHandler = function() { - return Boolean(this._callback) || listenerCount(this, 'error') > 1; -}; - -Sequence.prototype._packetToError = function(packet) { - var code = ErrorConstants[packet.errno] || 'UNKNOWN_CODE_PLEASE_REPORT'; - var err = new Error(code + ': ' + packet.message); - err.code = code; - err.errno = packet.errno; - - err.sqlMessage = packet.message; - err.sqlState = packet.sqlState; - - return err; -}; - -Sequence.prototype.end = function(err) { - if (this._ended) { - return; - } - - this._ended = true; - - if (err) { - this._addLongStackTrace(err); - } - - // Without this we are leaking memory. This problem was introduced in - // 8189925374e7ce3819bbe88b64c7b15abac96b16. I suspect that the error object - // causes a cyclic reference that the GC does not detect properly, but I was - // unable to produce a standalone version of this leak. This would be a great - // challenge for somebody interested in difficult problems : )! - this._callSite = null; - - // try...finally for exception safety - try { - if (err) { - this.emit('error', err); - } - } finally { - try { - if (this._callback) { - this._callback.apply(this, arguments); - } - } finally { - this.emit('end'); - } - } -}; - -Sequence.prototype['OkPacket'] = function(packet) { - this.end(null, packet); -}; - -Sequence.prototype['ErrorPacket'] = function(packet) { - this.end(this._packetToError(packet)); -}; - -// Implemented by child classes -Sequence.prototype.start = function() {}; - -Sequence.prototype._addLongStackTrace = function _addLongStackTrace(err) { - var callSiteStack = this._callSite && this._callSite.stack; - - if (!callSiteStack || typeof callSiteStack !== 'string') { - // No recorded call site - return; - } - - if (err.stack.indexOf(LONG_STACK_DELIMITER) !== -1) { - // Error stack already looks long - return; - } - - var index = callSiteStack.indexOf('\n'); - - if (index !== -1) { - // Append recorded call site - err.stack += LONG_STACK_DELIMITER + callSiteStack.substr(index + 1); - } -}; - -Sequence.prototype._onTimeout = function _onTimeout() { - this.emit('timeout'); -}; diff --git a/node_modules/mysql/lib/protocol/sequences/Statistics.js b/node_modules/mysql/lib/protocol/sequences/Statistics.js deleted file mode 100644 index c75b5d9..0000000 --- a/node_modules/mysql/lib/protocol/sequences/Statistics.js +++ /dev/null @@ -1,30 +0,0 @@ -var Sequence = require('./Sequence'); -var Util = require('util'); -var Packets = require('../packets'); - -module.exports = Statistics; -Util.inherits(Statistics, Sequence); -function Statistics(options, callback) { - if (!callback && typeof options === 'function') { - callback = options; - options = {}; - } - - Sequence.call(this, options, callback); -} - -Statistics.prototype.start = function() { - this.emit('packet', new Packets.ComStatisticsPacket()); -}; - -Statistics.prototype['StatisticsPacket'] = function (packet) { - this.end(null, packet); -}; - -Statistics.prototype.determinePacket = function determinePacket(firstByte) { - if (firstByte === 0x55) { - return Packets.StatisticsPacket; - } - - return undefined; -}; diff --git a/node_modules/mysql/lib/protocol/sequences/index.js b/node_modules/mysql/lib/protocol/sequences/index.js deleted file mode 100644 index 0eae5ce..0000000 --- a/node_modules/mysql/lib/protocol/sequences/index.js +++ /dev/null @@ -1,7 +0,0 @@ -exports.ChangeUser = require('./ChangeUser'); -exports.Handshake = require('./Handshake'); -exports.Ping = require('./Ping'); -exports.Query = require('./Query'); -exports.Quit = require('./Quit'); -exports.Sequence = require('./Sequence'); -exports.Statistics = require('./Statistics'); diff --git a/node_modules/mysql/package.json b/node_modules/mysql/package.json deleted file mode 100644 index 8c31f8b..0000000 --- a/node_modules/mysql/package.json +++ /dev/null @@ -1,98 +0,0 @@ -{ - "_from": "mysql", - "_id": "mysql@2.18.1", - "_inBundle": false, - "_integrity": "sha512-Bca+gk2YWmqp2Uf6k5NFEurwY/0td0cpebAucFpY/3jhrwrVGuxU2uQFCHjU19SJfje0yQvi+rVWdq78hR5lig==", - "_location": "/mysql", - "_phantomChildren": {}, - "_requested": { - "type": "tag", - "registry": true, - "raw": "mysql", - "name": "mysql", - "escapedName": "mysql", - "rawSpec": "", - "saveSpec": null, - "fetchSpec": "latest" - }, - "_requiredBy": [ - "#USER", - "/" - ], - "_resolved": "https://registry.npmjs.org/mysql/-/mysql-2.18.1.tgz", - "_shasum": "2254143855c5a8c73825e4522baf2ea021766717", - "_spec": "mysql", - "_where": "/Users/daphnedemekas/Desktop/Rare Diagnostics/RareDiagnosticsAlgorithm", - "author": { - "name": "Felix Geisendörfer", - "email": "felix@debuggable.com", - "url": "http://debuggable.com/" - }, - "bugs": { - "url": "https://github.com/mysqljs/mysql/issues" - }, - "bundleDependencies": false, - "contributors": [ - { - "name": "Andrey Sidorov", - "email": "sidorares@yandex.ru" - }, - { - "name": "Bradley Grainger", - "email": "bgrainger@gmail.com" - }, - { - "name": "Douglas Christopher Wilson", - "email": "doug@somethingdoug.com" - }, - { - "name": "Diogo Resende", - "email": "dresende@thinkdigital.pt" - }, - { - "name": "Nathan Woltman", - "email": "nwoltman@outlook.com" - } - ], - "dependencies": { - "bignumber.js": "9.0.0", - "readable-stream": "2.3.7", - "safe-buffer": "5.1.2", - "sqlstring": "2.3.1" - }, - "deprecated": false, - "description": "A node.js driver for mysql. It is written in JavaScript, does not require compiling, and is 100% MIT licensed.", - "devDependencies": { - "after": "0.8.2", - "eslint": "5.16.0", - "seedrandom": "3.0.5", - "timezone-mock": "0.0.7", - "urun": "0.0.8", - "utest": "0.0.8" - }, - "engines": { - "node": ">= 0.6" - }, - "files": [ - "lib/", - "Changes.md", - "License", - "Readme.md", - "index.js" - ], - "homepage": "https://github.com/mysqljs/mysql#readme", - "license": "MIT", - "name": "mysql", - "repository": { - "type": "git", - "url": "git+https://github.com/mysqljs/mysql.git" - }, - "scripts": { - "lint": "eslint . && node tool/lint-readme.js", - "test": "node test/run.js", - "test-ci": "node tool/install-nyc.js --nyc-optional --reporter=text -- npm test", - "test-cov": "node tool/install-nyc.js --reporter=html --reporter=text -- npm test", - "version": "node tool/version-changes.js && git add Changes.md" - }, - "version": "2.18.1" -} diff --git a/node_modules/process-nextick-args/index.js b/node_modules/process-nextick-args/index.js deleted file mode 100644 index 3eecf11..0000000 --- a/node_modules/process-nextick-args/index.js +++ /dev/null @@ -1,45 +0,0 @@ -'use strict'; - -if (typeof process === 'undefined' || - !process.version || - process.version.indexOf('v0.') === 0 || - process.version.indexOf('v1.') === 0 && process.version.indexOf('v1.8.') !== 0) { - module.exports = { nextTick: nextTick }; -} else { - module.exports = process -} - -function nextTick(fn, arg1, arg2, arg3) { - if (typeof fn !== 'function') { - throw new TypeError('"callback" argument must be a function'); - } - var len = arguments.length; - var args, i; - switch (len) { - case 0: - case 1: - return process.nextTick(fn); - case 2: - return process.nextTick(function afterTickOne() { - fn.call(null, arg1); - }); - case 3: - return process.nextTick(function afterTickTwo() { - fn.call(null, arg1, arg2); - }); - case 4: - return process.nextTick(function afterTickThree() { - fn.call(null, arg1, arg2, arg3); - }); - default: - args = new Array(len - 1); - i = 0; - while (i < args.length) { - args[i++] = arguments[i]; - } - return process.nextTick(function afterTick() { - fn.apply(null, args); - }); - } -} - diff --git a/node_modules/process-nextick-args/license.md b/node_modules/process-nextick-args/license.md deleted file mode 100644 index c67e353..0000000 --- a/node_modules/process-nextick-args/license.md +++ /dev/null @@ -1,19 +0,0 @@ -# Copyright (c) 2015 Calvin Metcalf - -Permission is hereby granted, free of charge, to any person obtaining a copy -of this software and associated documentation files (the "Software"), to deal -in the Software without restriction, including without limitation the rights -to use, copy, modify, merge, publish, distribute, sublicense, and/or sell -copies of the Software, and to permit persons to whom the Software is -furnished to do so, subject to the following conditions: - -The above copyright notice and this permission notice shall be included in all -copies or substantial portions of the Software. - -**THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR -IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, -FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE -AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER -LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, -OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE -SOFTWARE.** diff --git a/node_modules/process-nextick-args/package.json b/node_modules/process-nextick-args/package.json deleted file mode 100644 index 0404b5d..0000000 --- a/node_modules/process-nextick-args/package.json +++ /dev/null @@ -1,50 +0,0 @@ -{ - "_from": "process-nextick-args@~2.0.0", - "_id": "process-nextick-args@2.0.1", - "_inBundle": false, - "_integrity": "sha512-3ouUOpQhtgrbOa17J7+uxOTpITYWaGP7/AhoR3+A+/1e9skrzelGi/dXzEYyvbxubEF6Wn2ypscTKiKJFFn1ag==", - "_location": "/process-nextick-args", - "_phantomChildren": {}, - "_requested": { - "type": "range", - "registry": true, - "raw": "process-nextick-args@~2.0.0", - "name": "process-nextick-args", - "escapedName": "process-nextick-args", - "rawSpec": "~2.0.0", - "saveSpec": null, - "fetchSpec": "~2.0.0" - }, - "_requiredBy": [ - "/readable-stream" - ], - "_resolved": "https://registry.npmjs.org/process-nextick-args/-/process-nextick-args-2.0.1.tgz", - "_shasum": "7820d9b16120cc55ca9ae7792680ae7dba6d7fe2", - "_spec": "process-nextick-args@~2.0.0", - "_where": "/Users/daphnedemekas/Desktop/Rare Diagnostics/RareDiagnosticsAlgorithm/node_modules/readable-stream", - "author": "", - "bugs": { - "url": "https://github.com/calvinmetcalf/process-nextick-args/issues" - }, - "bundleDependencies": false, - "deprecated": false, - "description": "process.nextTick but always with args", - "devDependencies": { - "tap": "~0.2.6" - }, - "files": [ - "index.js" - ], - "homepage": "https://github.com/calvinmetcalf/process-nextick-args", - "license": "MIT", - "main": "index.js", - "name": "process-nextick-args", - "repository": { - "type": "git", - "url": "git+https://github.com/calvinmetcalf/process-nextick-args.git" - }, - "scripts": { - "test": "node test.js" - }, - "version": "2.0.1" -} diff --git a/node_modules/process-nextick-args/readme.md b/node_modules/process-nextick-args/readme.md deleted file mode 100644 index ecb432c..0000000 --- a/node_modules/process-nextick-args/readme.md +++ /dev/null @@ -1,18 +0,0 @@ -process-nextick-args -===== - -[![Build Status](https://travis-ci.org/calvinmetcalf/process-nextick-args.svg?branch=master)](https://travis-ci.org/calvinmetcalf/process-nextick-args) - -```bash -npm install --save process-nextick-args -``` - -Always be able to pass arguments to process.nextTick, no matter the platform - -```js -var pna = require('process-nextick-args'); - -pna.nextTick(function (a, b, c) { - console.log(a, b, c); -}, 'step', 3, 'profit'); -``` diff --git a/node_modules/q/CHANGES.md b/node_modules/q/CHANGES.md deleted file mode 100644 index 766fcdc..0000000 --- a/node_modules/q/CHANGES.md +++ /dev/null @@ -1,800 +0,0 @@ - -## 1.5.1 - - - Q.any now annotates its error message to clarify that Q.any was involved and - includes only the last error emitted. (Ivan Etchart) - - Avoid domain.dispose during tests in preparation for Node.js 9. (Anna - Henningsen) - -## 1.5.0 - - - Q.any gives an error message from the last rejected promise - - Throw if callback supplied to "finally" is invalid (@grahamrhay) - - Long stack trace improvements, can now construct long stack traces - across rethrows. - -## 1.4.1 - - - Address an issue that prevented Q from being used as a `